Ana Rath Annie Olry Boulares Ouchenne Caterina Lucano David Lagorce Marc Hanauer Valérie Lanneau 2013-06-20T12:00:00 2024-12-03T08:01:56 4.6 curator_inference manual_assertion Relationship between a clinical entity and modes of inheritance. has_inheritance Relationship between clinical entity and age of onset. has_age_of_onset Relationship between a clinical entity and the geographical area for which epidemiological data (Epidemiology) is available. present_in Stable URL pointing to the specific page of a given disease on the Orphanet website expertlink Relation between two clinical entities, one being included in the other. Ex : clinical subtype part_of disease. part_of A mutation of a gene in a germ cell that is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) in A mutation of a gene in a somatic cell that is sufficient to cause the disorder but can not be transmitted to the offspring. disease-causing somatic mutation(s) in A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder. major susceptibility factor in A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring. modifying germline mutation in A coding or regulatory DNA sequence from a gene that has fused with another coding and/or regulatory DNA sequence from a different gene. part of a fusion gene in A gene included in a chromosomal rearrangement, and proved to have a major influence in the phenotype of the chromosomal rearrangement. role in the phenotype of A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, but for which a genetic test (s) is (are) available candidate gene tested in A mutation of a gene in a germ cell that alters the function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) (loss of function) in A mutation of a gene in a germ cell that results in a new function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) (gain of function) in A gene in which a variation is used to monitor disorder activity and/or patient outcome. biomarker tested in This relation is generated between the deprecated entity and the active clinical entity (designated as the target entity) that is now recognized. The targeted ORPHAcode must be used as the code of replacement. Moved to This relation is generated between an obsolete entity and an active clinical entity (designated as the target entity) for appropriate redirection towards a code of replacement in coding settings. The targeted ORPHAcode should be viewed as a suggestion. Referred to Relationship between a gene with protein product, non-coding RNA or disorder-associated locus and its cytogenetic location on the chromosome. has_chromosomal location A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations. Orphanet ICD-10:Q98.8 ICD-11:LD50.3Y MeSH:D007713 MedDRA:10048230 UMLS:C2936741 Not applicable Unknown Adolescent Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=10 48,XXYY syndrome ORPHA:10 UMLS:C2936741 E (Exact mapping: the two concepts are equivalent) ICD-10:Q98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD50.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007713 E (Exact mapping: the two concepts are equivalent) MedDRA:10048230 E (Exact mapping: the two concepts are equivalent) Louis-Bar syndrome A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments. Orphanet ICD-10:G11.3 ICD-11:4A01.31 MeSH:D001260 MedDRA:10003594 OMIM:208900 OMIM:208910 UMLS:C0004135 Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100 Ataxia-telangiectasia ORPHA:100 ICD-10:G11.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A01.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D001260 E (Exact mapping: the two concepts are equivalent) MedDRA:10003594 E (Exact mapping: the two concepts are equivalent) OMIM:208900 E (Exact mapping: the two concepts are equivalent) OMIM:208910 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0004135 E (Exact mapping: the two concepts are equivalent) Ocular albinism with late-onset sensorineural hearing loss Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Orphanet ICD-10:E70.3 ICD-11:LD2H.Y MeSH:C537043 OMIM:300650 UMLS:C1845069 X-linked recessive Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1000 Ocular albinism with late-onset sensorineural deafness ORPHA:1000 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537043 E (Exact mapping: the two concepts are equivalent) OMIM:300650 E (Exact mapping: the two concepts are equivalent) UMLS:C1845069 E (Exact mapping: the two concepts are equivalent) ICD-10:D36.1 ICD-11:2F3Y UMLS:C5681810 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100000 Reticular perineurioma Clinical subtype ORPHA:100000 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681810 E (Exact mapping: the two concepts are equivalent) ICD-10:D36.1 ICD-11:2F3Y UMLS:C5681811 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100001 Sclerosing perineurioma Clinical subtype ORPHA:100001 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681811 E (Exact mapping: the two concepts are equivalent) Soft tissue perineurioma Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. Orphanet ICD-10:D36.1 ICD-11:2F3Y UMLS:C4708595 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100002 Extraneural perineurioma ORPHA:100002 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4708595 E (Exact mapping: the two concepts are equivalent) Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare. Orphanet ICD-10:D36.1 ICD-11:2F3Y ICD-11:XH4BQ8 UMLS:C1370658 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100003 Intraneural perineurioma ORPHA:100003 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH4BQ8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1370658 E (Exact mapping: the two concepts are equivalent) ABetaE22Q amyloidosis HCHWA, Dutch type HCHWA-D Hereditary cerebral hemorrhage with amyloidosis, Dutch type A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:605714 UMLS:C2931672 Autosomal dominant Adult Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100006 ABeta amyloidosis, Dutch type Clinical subtype ORPHA:100006 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605714 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2931672 E (Exact mapping: the two concepts are equivalent) CST3-related amyloidosis Cystatin amyloidosis HCHWA, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cystatin C amyloid angiopathy A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the <i>CST3</i> gene (20p11.2), encoding the precursor protein cystatin C. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:105150 UMLS:C1527338 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 9.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100008 ACys amyloidosis Clinical subtype ORPHA:100008 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105150 E (Exact mapping: the two concepts are equivalent) UMLS:C1527338 E (Exact mapping: the two concepts are equivalent) A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C5191423 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100011 Lissencephaly with cerebellar hypoplasia type A ORPHA:100011 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5191423 E (Exact mapping: the two concepts are equivalent) A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C4274993 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100012 Lissencephaly with cerebellar hypoplasia type B ORPHA:100012 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274993 E (Exact mapping: the two concepts are equivalent) A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C4274992 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100013 Lissencephaly with cerebellar hypoplasia type C ORPHA:100013 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274992 E (Exact mapping: the two concepts are equivalent) A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (&#8804; -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C4274991 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100014 Lissencephaly with cerebellar hypoplasia type D ORPHA:100014 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274991 E (Exact mapping: the two concepts are equivalent) A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C5191422 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100015 Lissencephaly with cerebellar hypoplasia type E ORPHA:100015 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5191422 E (Exact mapping: the two concepts are equivalent) A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C4274989 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100016 Lissencephaly with cerebellar hypoplasia type F ORPHA:100016 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274989 E (Exact mapping: the two concepts are equivalent) MDS-IB1 RAEB-1 Refractory anemia with excess blasts type 1 A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. Orphanet ICD-10:D46.2 ICD-11:2A35 UMLS:C1318550 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100019 Myelodysplastic neoplasm with increased blasts type 1 Clinical subtype ORPHA:100019 ICD-10:D46.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A35 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1318550 E (Exact mapping: the two concepts are equivalent) MDS-IB2 RAEB-2 Refractory anemia with excess blasts type 2 A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. Orphanet ICD-10:D46.2 ICD-11:2A35 UMLS:C1318551 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100020 Myelodysplastic neoplasm with increased blasts type 2 Clinical subtype ORPHA:100020 ICD-10:D46.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A35 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1318551 E (Exact mapping: the two concepts are equivalent) ICD-10:C90.3 ICD-11:2A83.2 United States AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100021 Primary plasmacytoma of the bone Clinical subtype ORPHA:100021 ICD-10:C90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:C90.2 ICD-11:2A83.2 UMLS:C2211567 United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100022 Extramedullary soft tissue plasmacytoma Clinical subtype ORPHA:100022 ICD-10:C90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2211567 E (Exact mapping: the two concepts are equivalent) mu-HCD A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Orphanet ICD-10:C88.2 ICD-11:2A84.2 ICD-11:XH2JK2 UMLS:C0242310 Adult Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100024 Mu-heavy chain disease Clinical subtype ORPHA:100024 ICD-10:C88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A84.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH2JK2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0242310 E (Exact mapping: the two concepts are equivalent) Alpha-HCD IPSID Immunoproliferative small intestinal disease Mediterranean lymphoma A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. Orphanet ICD-10:C88.3 ICD-11:2A84.0 ICD-11:XH1Y65 MeSH:D007161 UMLS:C0021071 Adolescent Adult Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100025 Alpha-heavy chain disease Clinical subtype ORPHA:100025 ICD-10:C88.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A84.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH1Y65 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007161 E (Exact mapping: the two concepts are equivalent) UMLS:C0021071 E (Exact mapping: the two concepts are equivalent) Franklin disease Gamma-HCD A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. Orphanet ICD-10:C88.2 ICD-11:2A84.1 UMLS:C0018854 Adult Worldwide AND has_cases/families_value : 120.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100026 Gamma-heavy chain disease Clinical subtype ORPHA:100026 ICD-10:C88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A84.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0018854 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 1 ICD-10:K00.5 ICD-11:LA30.6 MeSH:C538240 OMIM:104500 OMIM:104530 OMIM:204650 OMIM:301201 OMIM:616221 OMIM:616270 OMIM:617297 UMLS:C0399367 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100031 Hypoplastic amelogenesis imperfecta Clinical subtype ORPHA:100031 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538240 E (Exact mapping: the two concepts are equivalent) OMIM:104500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:104530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:204650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301201 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616221 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617297 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0399367 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 3 ICD-10:K00.5 ICD-11:LA30.6 MeSH:C562880 OMIM:130900 OMIM:616221 OMIM:617607 UMLS:C0399376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100032 Hypocalcified amelogenesis imperfecta Clinical subtype ORPHA:100032 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562880 E (Exact mapping: the two concepts are equivalent) OMIM:130900 E (Exact mapping: the two concepts are equivalent) OMIM:616221 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617607 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0399376 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 2 ICD-10:K00.5 ICD-11:LA30.6 MeSH:C536606 OMIM:204700 OMIM:301200 OMIM:612529 OMIM:613211 OMIM:614832 OMIM:615887 OMIM:617217 UMLS:C0399372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100033 Hypomaturation amelogenesis imperfecta Clinical subtype ORPHA:100033 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536606 E (Exact mapping: the two concepts are equivalent) OMIM:204700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612529 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613211 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614832 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617217 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0399372 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 4 ICD-10:K00.5 ICD-11:LA30.6 OMIM:104510 UMLS:C5680382 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Clinical subtype ORPHA:100034 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:104510 E (Exact mapping: the two concepts are equivalent) UMLS:C5680382 E (Exact mapping: the two concepts are equivalent) Hepatic solitary necrotic nodule A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. Orphanet ICD-10:D13.4 ICD-11:DB99.Y UMLS:C2960192 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100035 Solitary necrotic nodule of the liver ORPHA:100035 ICD-10:D13.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB99.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2960192 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dehydrated hereditary stomatocytosis Familial pseudohyperkalemia type 1 ORPHA:100039 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial pseudohyperkalemia OBSOLETE: Familial pseudohyperkalemia type 2 ORPHA:100040 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial pseudohyperkalemia OBSOLETE: Familial pseudohyperkalemia, Cardiff type ORPHA:100041 CMTDIA A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MeSH:C564702 OMIM:606483 UMLS:C1847896 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ORPHA:100043 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564702 E (Exact mapping: the two concepts are equivalent) OMIM:606483 E (Exact mapping: the two concepts are equivalent) UMLS:C1847896 E (Exact mapping: the two concepts are equivalent) CMTDIB A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MeSH:C564703 OMIM:606482 UMLS:C1847902 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ORPHA:100044 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564703 E (Exact mapping: the two concepts are equivalent) OMIM:606482 E (Exact mapping: the two concepts are equivalent) UMLS:C1847902 E (Exact mapping: the two concepts are equivalent) CMTDIC A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MeSH:C564257 OMIM:608323 UMLS:C1842237 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ORPHA:100045 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564257 E (Exact mapping: the two concepts are equivalent) OMIM:608323 E (Exact mapping: the two concepts are equivalent) UMLS:C1842237 E (Exact mapping: the two concepts are equivalent) CMTDID A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MeSH:C564333 OMIM:607791 UMLS:C1843075 Autosomal dominant Adult Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ORPHA:100046 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564333 E (Exact mapping: the two concepts are equivalent) OMIM:607791 E (Exact mapping: the two concepts are equivalent) UMLS:C1843075 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported. Orphanet ICD-10:Q39.8 ICD-11:LB12.Y UMLS:C4303524 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100047 Esophageal duplication cyst ORPHA:100047 ICD-10:Q39.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303524 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood. Orphanet ICD-10:Q39.8 ICD-11:LB12.Y UMLS:C4274729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100048 Tubular duplication of the esophagus ORPHA:100048 ICD-10:Q39.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274729 E (Exact mapping: the two concepts are equivalent) Primary ILD specific to childhood due to pulmonary surfactant protein anomalies A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. Orphanet UMLS:C5680383 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Category ORPHA:100049 UMLS:C5680383 E (Exact mapping: the two concepts are equivalent) HAE 1 HAE-I Hereditary angioneurotic edema type 1 A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:D84.1 ICD-11:4A00.14 OMIM:106100 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.54 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100050 Hereditary angioedema type 1 Etiological subtype ORPHA:100050 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:106100 E (Exact mapping: the two concepts are equivalent) HAE 2 HAE-II Hereditary angioneurotic edema type 2 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:D84.1 ICD-11:4A00.14 OMIM:106100 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100051 Hereditary angioedema type 2 Etiological subtype ORPHA:100051 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:106100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) F12-related HAE with normal C1 inhibitor HAE 3 HAE-III Hereditary angioedema type 3 Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives). Orphanet ICD-10:T78.3 ICD-11:4A00.14 MeSH:D056828 OMIM:610618 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100054 F12-related hereditary angioedema with normal C1Inh Clinical subtype ORPHA:100054 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D056828 E (Exact mapping: the two concepts are equivalent) OMIM:610618 E (Exact mapping: the two concepts are equivalent) AAE 2 AAE II Acquired angioneurotic edema type 2 A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 ICD-11:4A00.15 UMLS:C5680381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100055 Acquired angioedema type 2 Clinical subtype ORPHA:100055 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.15 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680381 E (Exact mapping: the two concepts are equivalent) Acquired angioneurotic edema type 1 A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 ICD-11:4A00.15 UMLS:C5680380 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100056 Acquired angioedema type 1 Clinical subtype ORPHA:100056 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.15 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680380 E (Exact mapping: the two concepts are equivalent) ACE inhibitor-related acquired angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1 inhibitor Acquired angioedema with normal C1INH RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 ICD-11:EH61.1 OMIM:300909 UMLS:C1268945 Multigenic/multifactorial Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema ORPHA:100057 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EH61.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300909 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1268945 E (Exact mapping: the two concepts are equivalent) ICD-10:A39.1+ ICD-10:E35.1* ICD-11:1C1C.1 MeSH:D014884 MedDRA:10047847 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100067 Waterhouse-Friderichsen syndrome Clinical subtype ORPHA:100067 ICD-10:A39.1+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E35.1* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1C.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014884 E (Exact mapping: the two concepts are equivalent) MedDRA:10047847 E (Exact mapping: the two concepts are equivalent) Semantic primary progressive aphasia Semantic variant PPA Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. Orphanet ICD-10:G31.0 ICD-11:6D83 OMIM:172700 OMIM:600274 UMLS:C0338462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100069 Semantic dementia ORPHA:100069 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:172700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600274 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0338462 E (Exact mapping: the two concepts are equivalent) Agramatic variant of PPA Agramatic variant of primary progressive aphasia Non-fluent variant PPA Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. Orphanet ICD-10:G31.0 ICD-11:6D83 MeSH:D057178 MedDRA:10029542 OMIM:172700 OMIM:600274 OMIM:607485 UMLS:C0751706 Multigenic/multifactorial Not applicable Adult Europe AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100070 Progressive non-fluent aphasia ORPHA:100070 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D057178 E (Exact mapping: the two concepts are equivalent) MedDRA:10029542 E (Exact mapping: the two concepts are equivalent) OMIM:172700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600274 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:607485 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751706 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 3 Trisomy 3 mosaicism Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C4707012 Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100071 Mosaic trisomy 3 syndrome ORPHA:100071 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707012 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Thoracic outlet syndrome OBSOLETE: True vascular thoracic outlet syndrome ORPHA:100072 NTOS Neurogenic TOS Neurogenic cervical rib syndrome Neurogenic costoclavicular syndrome Neurogenic thoracic outlet compression syndrome Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. Orphanet ICD-10:G54.0 ICD-11:8B91.Y UMLS:C0751549 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100073 Neurogenic thoracic outlet syndrome Clinical subtype ORPHA:100073 ICD-10:G54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0751549 E (Exact mapping: the two concepts are equivalent) GNET Gastric NET Gastric neuroendocrine tumor NET of stomach A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported. Orphanet ICD-10:C16.9 ICD-11:2B72.1 UMLS:C1333783 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100075 Neuroendocrine tumor of stomach ORPHA:100075 ICD-10:C16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1333783 E (Exact mapping: the two concepts are equivalent) UMLS:C4525619 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100076 Duodenal neuroendocrine tumor Category ORPHA:100076 UMLS:C4525619 E (Exact mapping: the two concepts are equivalent) Jejunal neuroendocrine neoplasm Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100077 Jejunal neuroendocrine tumor Category ORPHA:100077 Ileal neuroendocrine neoplasm Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred. Orphanet ICD-10:C17.2 UMLS:C4081841 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100078 Ileal neuroendocrine tumor ORPHA:100078 ICD-10:C17.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4081841 E (Exact mapping: the two concepts are equivalent) Appendiceal NEN Appendiceal neuroendocrine neoplasm NEN of appendix A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC). Orphanet ICD-10:C18.1 ICD-10:D37.3 ICD-11:2B81.2 UMLS:C1879718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100079 Neuroendocrine neoplasm of appendix ORPHA:100079 ICD-10:C18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D37.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1879718 E (Exact mapping: the two concepts are equivalent) Colonic NET NET of the colon Neuroendocrine neoplasm of the colon A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities). Orphanet ICD-10:C18.8 ICD-11:2B90.Y UMLS:C1333097 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100080 Neuroendocrine tumor of the colon ORPHA:100080 ICD-10:C18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1333097 E (Exact mapping: the two concepts are equivalent) NET of the rectum Rectal NET Rectal neuroendocrine tumor Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility. Orphanet ICD-10:C20 ICD-11:2B92.1 MedDRA:10085767 UMLS:C5554035 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100081 Neuroendocrine tumor of the rectum ORPHA:100081 ICD-10:C20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B92.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10085767 E (Exact mapping: the two concepts are equivalent) UMLS:C5554035 E (Exact mapping: the two concepts are equivalent) NET of anal canal A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise). Orphanet ICD-10:C21.1 ICD-11:2C00.2 UMLS:C3272849 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100082 Neuroendocrine tumor of anal canal ORPHA:100082 ICD-10:C21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3272849 E (Exact mapping: the two concepts are equivalent) A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis. Orphanet ICD-10:C32.1 ICD-11:2F00.2 UMLS:C5681809 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100083 Laryngeal neuroendocrine tumor ORPHA:100083 ICD-10:C32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681809 E (Exact mapping: the two concepts are equivalent) Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis. Orphanet ICD-10:C30.1 ICD-11:2F00.0 UMLS:C4305468 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100084 Middle ear neuroendocrine tumor ORPHA:100084 ICD-10:C30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4305468 E (Exact mapping: the two concepts are equivalent) Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. Orphanet ICD-10:C22.7 UMLS:C3273031 Not applicable Adult Worldwide AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100085 Primary hepatic neuroendocrine carcinoma ORPHA:100085 ICD-10:C22.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3273031 E (Exact mapping: the two concepts are equivalent) A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated. Orphanet ICD-10:C23 ICD-11:2C13.Y UMLS:C3273115 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100086 Gallbladder neuroendocrine tumor ORPHA:100086 ICD-10:C23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C13.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3273115 E (Exact mapping: the two concepts are equivalent) UMLS:C0040136 Europe AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 5.7 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100087 Rare thyroid tumor Category ORPHA:100087 UMLS:C0040136 E (Exact mapping: the two concepts are equivalent) UMLS:C0549473 Adult Austria AND has_annual_incidence_average_value : 7.679 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 3.74 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 2.921 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 8.329 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 6.382 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 4.803 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 3.65 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 61.7 AND has_lifetime_prevalence_range : 6-9 / 10 000 Finland AND has_annual_incidence_average_value : 6.375 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 5.526 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 2.45 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 12.86 AND has_annual_incidence_range : 1-5 / 10 000 Latvia AND has_annual_incidence_average_value : 4.563 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 7.905 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 6.344 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 2.373 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 4.472 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 4.488 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 8.628 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 3.991 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 5.649 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 5.162 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 6.39 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 2.733 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 12.2 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 3.1 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 12.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100088 Rare thyroid carcinoma Category ORPHA:100088 UMLS:C0549473 E (Exact mapping: the two concepts are equivalent) UMLS:C5681807 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100090 Rare parathyroid tumor Category ORPHA:100090 UMLS:C5681807 E (Exact mapping: the two concepts are equivalent) UMLS:C5681806 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100091 Adrenal/paraganglial tumor Category ORPHA:100091 UMLS:C5681806 E (Exact mapping: the two concepts are equivalent) GEP-NEN https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100092 Gastroenteropancreatic neuroendocrine neoplasm Category ORPHA:100092 Malignant carcinoid syndrome A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves. Orphanet ICD-10:E34.0 ICD-11:5B10 MeSH:D008303 MedDRA:10007270 UMLS:C0024586 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100093 Carcinoid syndrome ORPHA:100093 ICD-10:E34.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5B10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008303 E (Exact mapping: the two concepts are equivalent) MedDRA:10007270 E (Exact mapping: the two concepts are equivalent) UMLS:C0024586 E (Exact mapping: the two concepts are equivalent) ICD-11:2F7A.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100094 Multiple polyglandular tumor Category ORPHA:100094 ICD-11:2F7A.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Albright hereditary osteodystrophy type 3 Albright hereditary osteodystrophy-like syndrome Brachydactyly-intellectual disability syndrome Del(2)(q37) Deletion 2q37 Monosomy 2q37qter A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis. Orphanet ICD-10:Q93.5 ICD-11:LD44.20 MeSH:C538317 OMIM:600430 UMLS:C2931817 Autosomal dominant Not applicable Neonatal Worldwide AND has_cases/families_value : 115.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1001 2q37 microdeletion syndrome ORPHA:1001 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538317 E (Exact mapping: the two concepts are equivalent) OMIM:600430 E (Exact mapping: the two concepts are equivalent) UMLS:C2931817 E (Exact mapping: the two concepts are equivalent) MeSH:D013953 MedDRA:10056296 UMLS:C3714644 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100100 Thymic tumor Category ORPHA:100100 MeSH:D013953 E (Exact mapping: the two concepts are equivalent) MedDRA:10056296 E (Exact mapping: the two concepts are equivalent) UMLS:C3714644 E (Exact mapping: the two concepts are equivalent) UMLS:C5681808 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100101 Neuroendocrine tumor with other location Category ORPHA:100101 UMLS:C5681808 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Ciliary neuralgia NON RARE IN EUROPE: Cluster migraine NON RARE IN EUROPE: Erythromelalgia of the head NON RARE IN EUROPE: Erythroprosopalgia of Bing NON RARE IN EUROPE: Histamine cephalalgia NON RARE IN EUROPE: Histamine headache NON RARE IN EUROPE: Histaminic cephalalgia NON RARE IN EUROPE: Horton headache NON RARE IN EUROPE: Migrainous neuralgia NON RARE IN EUROPE: Red migraine This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G44.0 NON RARE IN EUROPE: Cluster headache ORPHA:1002 ICD-10:G44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.2 MeSH:C536622 OMIM:181250 UMLS:C4511971 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1003 Scalp defects-postaxial polydactyly syndrome ORPHA:1003 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536622 E (Exact mapping: the two concepts are equivalent) OMIM:181250 E (Exact mapping: the two concepts are equivalent) UMLS:C4511971 E (Exact mapping: the two concepts are equivalent) ACD-intellectual disability syndrome A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C537051 OMIM:203550 UMLS:C4303742 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1005 Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537051 E (Exact mapping: the two concepts are equivalent) OMIM:203550 E (Exact mapping: the two concepts are equivalent) UMLS:C4303742 E (Exact mapping: the two concepts are equivalent) Ipp-Gelfand syndrome A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. Orphanet ICD-10:D80.8 UMLS:C5190867 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1006 Alopecia antibody deficiency ORPHA:1006 ICD-10:D80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190867 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Gonorrhea ORPHA:100642 Shokeir syndrome A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Orphanet ICD-10:Q87.8 ICD-11:LD90.Y MeSH:C537057 OMIM:104130 UMLS:C1863090 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ORPHA:1008 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537057 E (Exact mapping: the two concepts are equivalent) OMIM:104130 E (Exact mapping: the two concepts are equivalent) UMLS:C1863090 E (Exact mapping: the two concepts are equivalent) ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms. Orphanet ICD-10:E80.2 ICD-11:5C58.1Y OMIM:612740 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency ORPHA:100924 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612740 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare ophthalmic disorder with cranial nerve involvement OBSOLETE: Nuclear oculomotor paralysis ORPHA:100932 Intellectual disability associated with fragile site FRAXE A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. Orphanet ICD-10:Q99.2 ICD-11:LD90.Y OMIM:309548 UMLS:C4274328 X-linked recessive Antenatal Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100973 FRAXE intellectual disability ORPHA:100973 ICD-10:Q99.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309548 E (Exact mapping: the two concepts are equivalent) UMLS:C4274328 E (Exact mapping: the two concepts are equivalent) FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Orphanet ICD-10:Q99.2 UMLS:C4274329 Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100974 FRAXF syndrome ORPHA:100974 ICD-10:Q99.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274329 E (Exact mapping: the two concepts are equivalent) BSI Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body. Orphanet ICD-10:Q80.2 ICD-11:EC20.02 OMIM:242300 UMLS:C4511230 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100976 Bathing suit ichthyosis ORPHA:100976 ICD-10:Q80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:242300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4511230 E (Exact mapping: the two concepts are equivalent) Benallegue-Lacete syndrome A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.5 ICD-11:LD24.GY UMLS:C5190852 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190852 E (Exact mapping: the two concepts are equivalent) Autosomal dominant complex HSP Autosomal dominant complex SPG Autosomal dominant complicated HSP Autosomal dominant complicated SPG Autosomal dominant complicated spastic paraplegia UMLS:C5680379 Autosomal dominant Europe AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100979 Autosomal dominant complex spastic paraplegia Clinical group ORPHA:100979 UMLS:C5680379 E (Exact mapping: the two concepts are equivalent) Autosomal dominant pure HSP Autosomal dominant pure SPG Autosomal dominant uncomplicated HSP Autosomal dominant uncomplicated SPG Autosomal dominant uncomplicated spastic paraplegia UMLS:C5680378 Autosomal dominant Europe AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100980 Autosomal dominant pure spastic paraplegia Clinical group ORPHA:100980 UMLS:C5680378 E (Exact mapping: the two concepts are equivalent) Autosomal recessive complex HSP Autosomal recessive complex SPG Autosomal recessive complicated HSP Autosomal recessive complicated SPG Autosomal recessive complicated spastic paraplegia UMLS:C5680377 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100981 Autosomal recessive complex spastic paraplegia Clinical group ORPHA:100981 UMLS:C5680377 E (Exact mapping: the two concepts are equivalent) Autosomal recessive pure HSP Autosomal recessive pure SPG Autosomal recessive uncomplicated HSP Autosomal recessive uncomplicated SPG Autosomal recessive uncomplicated spastic paraplegia UMLS:C5680376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100982 Autosomal recessive pure spastic paraplegia Clinical group ORPHA:100982 UMLS:C5680376 E (Exact mapping: the two concepts are equivalent) Autosomal dominant spastic paraplegia type 3A SPG3A Strümpell disease A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with <i>pes cavus</i>, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C536864 OMIM:182600 UMLS:C2931355 Autosomal dominant Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100984 Autosomal dominant spastic paraplegia type 3 ORPHA:100984 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536864 E (Exact mapping: the two concepts are equivalent) OMIM:182600 E (Exact mapping: the two concepts are equivalent) UMLS:C2931355 E (Exact mapping: the two concepts are equivalent) SPG4 A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C536865 OMIM:182601 UMLS:C1866855 Autosomal dominant Adolescent Adult Childhood Infancy Portugal AND has_point_prevalence_average_value : 0.91 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100985 Autosomal dominant spastic paraplegia type 4 ORPHA:100985 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536865 E (Exact mapping: the two concepts are equivalent) OMIM:182601 E (Exact mapping: the two concepts are equivalent) UMLS:C1866855 E (Exact mapping: the two concepts are equivalent) SPG5A Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C564811 OMIM:270800 UMLS:C1849115 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100986 Autosomal recessive spastic paraplegia type 5A ORPHA:100986 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564811 E (Exact mapping: the two concepts are equivalent) OMIM:270800 E (Exact mapping: the two concepts are equivalent) UMLS:C1849115 E (Exact mapping: the two concepts are equivalent) SPG6 A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C536866 OMIM:600363 UMLS:C1838192 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100988 Autosomal dominant spastic paraplegia type 6 ORPHA:100988 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536866 E (Exact mapping: the two concepts are equivalent) OMIM:600363 E (Exact mapping: the two concepts are equivalent) UMLS:C1838192 E (Exact mapping: the two concepts are equivalent) SPG8 A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C580458 OMIM:603563 UMLS:C1863704 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100989 Autosomal dominant spastic paraplegia type 8 ORPHA:100989 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580458 E (Exact mapping: the two concepts are equivalent) OMIM:603563 E (Exact mapping: the two concepts are equivalent) UMLS:C1863704 E (Exact mapping: the two concepts are equivalent) OBSOLETE: SPG9 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal dominant complex spastic paraplegia OBSOLETE: Autosomal dominant spastic paraplegia type 9 ORPHA:100990 SPG10 A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C537482 OMIM:604187 UMLS:C1858712 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100991 Autosomal dominant spastic paraplegia type 10 ORPHA:100991 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537482 E (Exact mapping: the two concepts are equivalent) OMIM:604187 E (Exact mapping: the two concepts are equivalent) UMLS:C1858712 E (Exact mapping: the two concepts are equivalent) SPG12 A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C537484 OMIM:604805 UMLS:C1858106 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100993 Autosomal dominant spastic paraplegia type 12 ORPHA:100993 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537484 E (Exact mapping: the two concepts are equivalent) OMIM:604805 E (Exact mapping: the two concepts are equivalent) UMLS:C1858106 E (Exact mapping: the two concepts are equivalent) SPG13 A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C537485 OMIM:605280 UMLS:C1854467 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100994 Autosomal dominant spastic paraplegia type 13 ORPHA:100994 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537485 E (Exact mapping: the two concepts are equivalent) OMIM:605280 E (Exact mapping: the two concepts are equivalent) UMLS:C1854467 E (Exact mapping: the two concepts are equivalent) SPG14 Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C537486 OMIM:605229 UMLS:C1854568 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100995 Autosomal recessive spastic paraplegia type 14 ORPHA:100995 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537486 E (Exact mapping: the two concepts are equivalent) OMIM:605229 E (Exact mapping: the two concepts are equivalent) UMLS:C1854568 E (Exact mapping: the two concepts are equivalent) Hereditary spastic paraparesis type 15 Kjellin syndrome SPG15 Spastic paraplegia-retinal degeneration syndrome Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C536642 OMIM:270700 UMLS:C1849128 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100996 Autosomal recessive spastic paraplegia type 15 ORPHA:100996 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536642 E (Exact mapping: the two concepts are equivalent) OMIM:270700 E (Exact mapping: the two concepts are equivalent) UMLS:C1849128 E (Exact mapping: the two concepts are equivalent) SPG16 A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. Orphanet ICD-10:G11.4 ICD-11:8B44.02 MeSH:C536643 OMIM:300266 UMLS:C1846046 X-linked recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100997 X-linked spastic paraplegia type 16 ORPHA:100997 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536643 E (Exact mapping: the two concepts are equivalent) OMIM:300266 E (Exact mapping: the two concepts are equivalent) UMLS:C1846046 E (Exact mapping: the two concepts are equivalent) SPG17 Silver syndrome Spastic paraplegia-amyotrophy of hands and feet A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C536644 OMIM:270685 UMLS:C2931276 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100998 Autosomal dominant spastic paraplegia type 17 ORPHA:100998 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536644 E (Exact mapping: the two concepts are equivalent) OMIM:270685 E (Exact mapping: the two concepts are equivalent) UMLS:C2931276 E (Exact mapping: the two concepts are equivalent) SPG19 A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C536856 OMIM:607152 UMLS:C1846685 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100999 Autosomal dominant spastic paraplegia type 19 ORPHA:100999 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536856 E (Exact mapping: the two concepts are equivalent) OMIM:607152 E (Exact mapping: the two concepts are equivalent) UMLS:C1846685 E (Exact mapping: the two concepts are equivalent) DRPLA Dentatorubropallidoluysian atrophy Naito-Oyanagi disease A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. Orphanet ICD-10:G11.8 ICD-11:8A01.12 MedDRA:10075298 OMIM:125370 UMLS:C0751781 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.48 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.71 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101 Dentatorubral pallidoluysian atrophy ORPHA:101 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A01.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10075298 E (Exact mapping: the two concepts are equivalent) OMIM:125370 E (Exact mapping: the two concepts are equivalent) UMLS:C0751781 E (Exact mapping: the two concepts are equivalent) Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia PPK-CA, Stevanovic type Palmoplantar keratoderma and congenital alopecia, Stevanovic type A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y OMIM:104100 UMLS:C4304669 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:104100 E (Exact mapping: the two concepts are equivalent) UMLS:C4304669 E (Exact mapping: the two concepts are equivalent) Childhood-onset spastic paraparesis-distal muscle wasting syndrome SPG20 Troyer syndrome Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C536858 OMIM:275900 UMLS:C0393559 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101000 Autosomal recessive spastic paraplegia type 20 ORPHA:101000 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536858 E (Exact mapping: the two concepts are equivalent) OMIM:275900 E (Exact mapping: the two concepts are equivalent) UMLS:C0393559 E (Exact mapping: the two concepts are equivalent) Mast syndrome SPG21 Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C565409 OMIM:248900 UMLS:C1855346 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101001 Autosomal recessive spastic paraplegia type 21 ORPHA:101001 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565409 E (Exact mapping: the two concepts are equivalent) OMIM:248900 E (Exact mapping: the two concepts are equivalent) UMLS:C1855346 E (Exact mapping: the two concepts are equivalent) Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C536859 OMIM:270750 UMLS:C0796019 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101003 Autosomal recessive spastic paraplegia type 23 ORPHA:101003 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536859 E (Exact mapping: the two concepts are equivalent) OMIM:270750 E (Exact mapping: the two concepts are equivalent) UMLS:C0796019 E (Exact mapping: the two concepts are equivalent) SPG24 A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C564375 OMIM:607584 UMLS:C1843569 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101004 Autosomal recessive spastic paraplegia type 24 ORPHA:101004 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564375 E (Exact mapping: the two concepts are equivalent) OMIM:607584 E (Exact mapping: the two concepts are equivalent) UMLS:C1843569 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spastic paraplegia-disc herniation syndrome SPG25 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C536861 OMIM:608220 UMLS:C2936860 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101005 Autosomal recessive spastic paraplegia type 25 ORPHA:101005 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536861 E (Exact mapping: the two concepts are equivalent) OMIM:608220 E (Exact mapping: the two concepts are equivalent) UMLS:C2936860 E (Exact mapping: the two concepts are equivalent) GM2 synthase deficiency SPG26 Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the <i>B4GALNT1</i> gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C536862 OMIM:609195 UMLS:C1836632 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101006 Autosomal recessive spastic paraplegia type 26 ORPHA:101006 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536862 E (Exact mapping: the two concepts are equivalent) OMIM:609195 E (Exact mapping: the two concepts are equivalent) UMLS:C1836632 E (Exact mapping: the two concepts are equivalent) SPG27 Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C563807 OMIM:609041 UMLS:C1836899 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101007 Autosomal recessive spastic paraplegia type 27 ORPHA:101007 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563807 E (Exact mapping: the two concepts are equivalent) OMIM:609041 E (Exact mapping: the two concepts are equivalent) UMLS:C1836899 E (Exact mapping: the two concepts are equivalent) SPG28 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C563732 OMIM:609340 UMLS:C1836295 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101008 Autosomal recessive spastic paraplegia type 28 ORPHA:101008 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563732 E (Exact mapping: the two concepts are equivalent) OMIM:609340 E (Exact mapping: the two concepts are equivalent) UMLS:C1836295 E (Exact mapping: the two concepts are equivalent) SPG29 A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C536863 OMIM:609727 UMLS:C1857855 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101009 Autosomal dominant spastic paraplegia type 29 ORPHA:101009 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536863 E (Exact mapping: the two concepts are equivalent) OMIM:609727 E (Exact mapping: the two concepts are equivalent) UMLS:C1857855 E (Exact mapping: the two concepts are equivalent) SPG30 A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. Orphanet ICD-10:G11.4 ICD-11:8B44.0Y OMIM:610357 UMLS:C5235139 Autosomal dominant Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101010 Autosomal spastic paraplegia type 30 ORPHA:101010 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610357 E (Exact mapping: the two concepts are equivalent) UMLS:C5235139 E (Exact mapping: the two concepts are equivalent) SPG31 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C565210 OMIM:610250 UMLS:C1853247 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101011 Autosomal dominant spastic paraplegia type 31 ORPHA:101011 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565210 E (Exact mapping: the two concepts are equivalent) OMIM:610250 E (Exact mapping: the two concepts are equivalent) UMLS:C1853247 E (Exact mapping: the two concepts are equivalent) Romano-Ward long QT syndrome A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia). Orphanet ICD-10:I45.8 ICD-11:BC65.0 MeSH:D029597 MedDRA:10039211 OMIM:192500 OMIM:600919 OMIM:603830 OMIM:611818 OMIM:611819 OMIM:611820 OMIM:612955 OMIM:613485 OMIM:613688 OMIM:613693 OMIM:613695 OMIM:616247 OMIM:616249 UMLS:C4551647 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101016 Romano-Ward syndrome ORPHA:101016 ICD-10:I45.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D029597 E (Exact mapping: the two concepts are equivalent) MedDRA:10039211 E (Exact mapping: the two concepts are equivalent) OMIM:192500 E (Exact mapping: the two concepts are equivalent) OMIM:600919 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611818 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611819 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611820 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612955 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613485 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613688 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613693 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613695 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616247 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616249 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551647 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sitosterolemia UMLS:C0272281 Mediterranean macrothrombocytopenia ORPHA:101022 UMLS:C0272281 E (Exact mapping: the two concepts are equivalent) ICD-10:Q35.1 ICD-11:LA42.0 UMLS:C0432090 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101023 Cleft hard palate ORPHA:101023 ICD-10:Q35.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA42.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0432090 E (Exact mapping: the two concepts are equivalent) TALDO deficiency Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Orphanet ICD-10:E74.8 ICD-11:5C51.0 MeSH:C563207 OMIM:606003 UMLS:C1291329 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101028 Transaldolase deficiency ORPHA:101028 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563207 E (Exact mapping: the two concepts are equivalent) OMIM:606003 E (Exact mapping: the two concepts are equivalent) UMLS:C1291329 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.8 ICD-11:LA05.5Y UMLS:C5681805 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101029 Sub-cortical nodular heterotopia Clinical subtype ORPHA:101029 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681805 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.8 ICD-11:LA05.5Y MedDRA:10071150 UMLS:C3160906 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101030 Subependymal nodular heterotopia Clinical subtype ORPHA:101030 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10071150 E (Exact mapping: the two concepts are equivalent) UMLS:C3160906 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Peters anomaly OBSOLETE: Peters anomaly-cataract syndrome ORPHA:101033 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Cleft lip/palate-ectodermal dysplasia syndrome OBSOLETE: Zlotogura-Martinez syndrome ORPHA:101036 EFMR Juberg-Hellman syndrome Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. Orphanet ICD-10:G40.8 ICD-11:8A61.1Y MeSH:C564715 OMIM:300088 UMLS:C1848137 Unknown Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101039 Female restricted epilepsy with intellectual disability ORPHA:101039 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564715 E (Exact mapping: the two concepts are equivalent) OMIM:300088 E (Exact mapping: the two concepts are equivalent) UMLS:C1848137 E (Exact mapping: the two concepts are equivalent) Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. Orphanet ICD-10:D68.2 ICD-11:3B14.0 OMIM:202400 UMLS:C5681803 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101041 Familial hypofibrinogenemia Clinical subtype ORPHA:101041 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:202400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681803 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Double outlet right ventricle with subpulmonary ventricular septal defect OBSOLETE: Taussig-Bing syndrome ORPHA:101042 ICD-10:Q23.0 UMLS:C5397239 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101043 Congenital aortic valve dysplasia Clinical subtype ORPHA:101043 ICD-10:Q23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5397239 E (Exact mapping: the two concepts are equivalent) ADEAF ADLTE ADPEAF Autosomal dominant lateral temporal lobe epilepsy Partial epilepsy with auditory aura Partial epilepsy with auditory features A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. Orphanet ICD-10:G40.0 ICD-11:8A61.3Y MeSH:C537297 OMIM:600512 OMIM:616436 OMIM:616461 UMLS:C1838062 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101046 Autosomal dominant epilepsy with auditory features ORPHA:101046 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537297 E (Exact mapping: the two concepts are equivalent) OMIM:600512 E (Exact mapping: the two concepts are equivalent) OMIM:616436 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616461 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1838062 E (Exact mapping: the two concepts are equivalent) FHH type 2 ICD-10:E83.5 ICD-11:5A51.2 MeSH:C537146 OMIM:145981 UMLS:C1840347 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101049 Familial hypocalciuric hypercalcemia type 2 Etiological subtype ORPHA:101049 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537146 E (Exact mapping: the two concepts are equivalent) OMIM:145981 E (Exact mapping: the two concepts are equivalent) UMLS:C1840347 E (Exact mapping: the two concepts are equivalent) FHH type 3 ICD-10:E83.5 ICD-11:5A51.2 MeSH:C537147 OMIM:600740 UMLS:C1833372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101050 Familial hypocalciuric hypercalcemia type 3 Etiological subtype ORPHA:101050 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537147 E (Exact mapping: the two concepts are equivalent) OMIM:600740 E (Exact mapping: the two concepts are equivalent) UMLS:C1833372 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Microlissencephaly OBSOLETE: Microlissencephaly type B ORPHA:101052 Complete situs inversus Complete situs inversus viscerum Situs inversus A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated. Orphanet ICD-10:Q89.3 ICD-11:LA82 UMLS:C0037221 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101063 Situs inversus totalis ORPHA:101063 ICD-10:Q89.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA82 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0037221 E (Exact mapping: the two concepts are equivalent) CSCD Congenital hereditary stromal dystrophy Witschel dystrophy Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C566452 OMIM:610048 UMLS:C1864738 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101068 Congenital stromal corneal dystrophy ORPHA:101068 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566452 E (Exact mapping: the two concepts are equivalent) OMIM:610048 E (Exact mapping: the two concepts are equivalent) UMLS:C1864738 E (Exact mapping: the two concepts are equivalent) Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Orphanet ICD-10:Q04.3 ICD-11:LA05.50 MeSH:C564652 OMIM:606854 UMLS:C1847352 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101070 Bilateral frontoparietal polymicrogyria Clinical subtype ORPHA:101070 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564652 E (Exact mapping: the two concepts are equivalent) OMIM:606854 E (Exact mapping: the two concepts are equivalent) UMLS:C1847352 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 ICD-11:LA05.50 UMLS:C5681804 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101071 Unilateral hemispheric polymicrogyria Clinical subtype ORPHA:101071 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681804 E (Exact mapping: the two concepts are equivalent) CMT1X CMTX1 A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535919 OMIM:302800 UMLS:C0393808 X-linked dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101075 X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535919 E (Exact mapping: the two concepts are equivalent) OMIM:302800 E (Exact mapping: the two concepts are equivalent) UMLS:C0393808 E (Exact mapping: the two concepts are equivalent) CMTX2 A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. Orphanet ICD-10:G60.0 ICD-11:LD90.Y MeSH:C535302 OMIM:302801 UMLS:C1844873 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101076 X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535302 E (Exact mapping: the two concepts are equivalent) OMIM:302801 E (Exact mapping: the two concepts are equivalent) UMLS:C1844873 E (Exact mapping: the two concepts are equivalent) CMT3X CMTX3 A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Orphanet ICD-10:G60.0 ICD-11:LD90.Y MeSH:C535303 OMIM:302802 UMLS:C1844865 X-linked recessive Adolescent Childhood Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101077 X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535303 E (Exact mapping: the two concepts are equivalent) OMIM:302802 E (Exact mapping: the two concepts are equivalent) UMLS:C1844865 E (Exact mapping: the two concepts are equivalent) CMT4X CMTX4 Cowchock syndrome A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. Orphanet ICD-10:G60.0 ICD-11:LD90.Y MeSH:C536450 OMIM:310490 UMLS:C0795910 X-linked recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101078 X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536450 E (Exact mapping: the two concepts are equivalent) OMIM:310490 E (Exact mapping: the two concepts are equivalent) UMLS:C0795910 E (Exact mapping: the two concepts are equivalent) CMT1A Microduplication 17p12 ICD-10:G60.0 ICD-11:LD41.G1 OMIM:118220 UMLS:C0270911 Autosomal dominant Childhood Norway AND has_point_prevalence_average_value : 82.37 AND has_point_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101081 Charcot-Marie-Tooth disease type 1A ORPHA:101081 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:118220 E (Exact mapping: the two concepts are equivalent) UMLS:C0270911 E (Exact mapping: the two concepts are equivalent) CMT1B Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the <i>MPZ</i> gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases. Orphanet ICD-10:G60.0 ICD-11:8C20.0 OMIM:118200 UMLS:C0270912 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101082 Charcot-Marie-Tooth disease type 1B ORPHA:101082 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:118200 E (Exact mapping: the two concepts are equivalent) UMLS:C0270912 E (Exact mapping: the two concepts are equivalent) CMT1C A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C537984 OMIM:601098 UMLS:C0270913 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101083 Charcot-Marie-Tooth disease type 1C ORPHA:101083 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537984 E (Exact mapping: the two concepts are equivalent) OMIM:601098 E (Exact mapping: the two concepts are equivalent) UMLS:C0270913 E (Exact mapping: the two concepts are equivalent) CMT1D Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C537985 OMIM:607678 UMLS:C1843247 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101084 Charcot-Marie-Tooth disease type 1D ORPHA:101084 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537985 E (Exact mapping: the two concepts are equivalent) OMIM:607678 E (Exact mapping: the two concepts are equivalent) UMLS:C1843247 E (Exact mapping: the two concepts are equivalent) CMT1F Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the <i>NEFL</i> gene (8p21.2). Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C537987 OMIM:607734 UMLS:C1843164 Autosomal dominant Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101085 Charcot-Marie-Tooth disease type 1F ORPHA:101085 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537987 E (Exact mapping: the two concepts are equivalent) OMIM:607734 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1843164 E (Exact mapping: the two concepts are equivalent) HIGM1 Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome type 1 XHIGM ICD-10:D80.5 ICD-11:4A01.1Y MeSH:D053307 OMIM:308230 UMLS:C0398689 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101088 X-linked hyper-IgM syndrome Clinical subtype ORPHA:101088 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053307 E (Exact mapping: the two concepts are equivalent) OMIM:308230 E (Exact mapping: the two concepts are equivalent) UMLS:C0398689 E (Exact mapping: the two concepts are equivalent) AID deficiency Activation-induced cytidine deaminase deficiency HIGM2 ICD-10:D80.5 ICD-11:4A01.05 OMIM:605258 UMLS:C1720956 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101089 Hyper-IgM syndrome type 2 Clinical subtype ORPHA:101089 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.05 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605258 E (Exact mapping: the two concepts are equivalent) UMLS:C1720956 E (Exact mapping: the two concepts are equivalent) HIGM3 Hyper-IgM syndrome due to CD40 deficiency ICD-10:D80.5 ICD-11:4A01.1Y OMIM:606843 UMLS:C1720957 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101090 Hyper-IgM syndrome type 3 Clinical subtype ORPHA:101090 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606843 E (Exact mapping: the two concepts are equivalent) UMLS:C1720957 E (Exact mapping: the two concepts are equivalent) HIGM4 ICD-10:D80.5 ICD-11:4A01.1Y MeSH:C564277 OMIM:608184 UMLS:C1842413 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101091 Hyper-IgM syndrome type 4 Clinical subtype ORPHA:101091 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564277 E (Exact mapping: the two concepts are equivalent) OMIM:608184 E (Exact mapping: the two concepts are equivalent) UMLS:C1842413 E (Exact mapping: the two concepts are equivalent) HIGM5 Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N-glycosylase ICD-10:D80.5 ICD-11:4A01.05 OMIM:608106 UMLS:C1720958 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101092 Hyper-IgM syndrome type 5 Clinical subtype ORPHA:101092 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.05 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608106 E (Exact mapping: the two concepts are equivalent) UMLS:C1720958 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Myelodysplastic syndrome OBSOLETE: Aregenerative anemia ORPHA:101096 ARCMT2K Autosomal recessive axonal CMT4C4 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C535418 OMIM:607706 OMIM:607831 UMLS:C1842983 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ORPHA:101097 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535418 E (Exact mapping: the two concepts are equivalent) OMIM:607706 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607831 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842983 E (Exact mapping: the two concepts are equivalent) Devriendt-Legius-Fryns syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woodhouse-Sakati syndrome MeSH:C537053 UMLS:C2931406 Alopecia-hypogonadism-extrapyramidal syndrome ORPHA:1011 MeSH:C537053 E (Exact mapping: the two concepts are equivalent) UMLS:C2931406 E (Exact mapping: the two concepts are equivalent) AR-CMT2B2 Autosomal recessive axonal CMT4C3 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C537991 OMIM:605589 UMLS:C1854150 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101101 Charcot-Marie-Tooth disease type 2B2 ORPHA:101101 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537991 E (Exact mapping: the two concepts are equivalent) OMIM:605589 E (Exact mapping: the two concepts are equivalent) UMLS:C1854150 E (Exact mapping: the two concepts are equivalent) AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C535415 OMIM:607731 UMLS:C1843173 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101102 Charcot-Marie-Tooth disease type 2H ORPHA:101102 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535415 E (Exact mapping: the two concepts are equivalent) OMIM:607731 E (Exact mapping: the two concepts are equivalent) UMLS:C1843173 E (Exact mapping: the two concepts are equivalent) ICD-10:Q07.8 ICD-11:9A03.00 UMLS:C5681802 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101104 Marin-Amat syndrome Clinical subtype ORPHA:101104 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A03.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681802 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-functioning paraganglioma OBSOLETE: Non-secreting chemodectoma ORPHA:101106 SCA22 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 19/22 MeSH:C542540 UMLS:C2746067 Spinocerebellar ataxia type 22 ORPHA:101107 MeSH:C542540 E (Exact mapping: the two concepts are equivalent) UMLS:C2746067 E (Exact mapping: the two concepts are equivalent) SCA23 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C537201 OMIM:610245 UMLS:C1853250 Autosomal dominant Adult Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101108 Spinocerebellar ataxia type 23 ORPHA:101108 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537201 E (Exact mapping: the two concepts are equivalent) OMIM:610245 E (Exact mapping: the two concepts are equivalent) UMLS:C1853250 E (Exact mapping: the two concepts are equivalent) SCA28 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. Orphanet ICD-10:G11.1 ICD-11:8A03.16 MeSH:C537205 OMIM:610246 UMLS:C1853249 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101109 Spinocerebellar ataxia type 28 ORPHA:101109 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537205 E (Exact mapping: the two concepts are equivalent) OMIM:610246 E (Exact mapping: the two concepts are equivalent) UMLS:C1853249 E (Exact mapping: the two concepts are equivalent) SCA20 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C537199 OMIM:608687 UMLS:C1837541 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101110 Spinocerebellar ataxia type 20 ORPHA:101110 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537199 E (Exact mapping: the two concepts are equivalent) OMIM:608687 E (Exact mapping: the two concepts are equivalent) UMLS:C1837541 E (Exact mapping: the two concepts are equivalent) SCA25 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MeSH:C537202 OMIM:608703 UMLS:C1837518 Autosomal dominant All ages Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101111 Spinocerebellar ataxia type 25 ORPHA:101111 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537202 E (Exact mapping: the two concepts are equivalent) OMIM:608703 E (Exact mapping: the two concepts are equivalent) UMLS:C1837518 E (Exact mapping: the two concepts are equivalent) SCA26 A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C537203 OMIM:609306 UMLS:C1836395 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101112 Spinocerebellar ataxia type 26 ORPHA:101112 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537203 E (Exact mapping: the two concepts are equivalent) OMIM:609306 E (Exact mapping: the two concepts are equivalent) UMLS:C1836395 E (Exact mapping: the two concepts are equivalent) Autosomal recessive Segawa syndrome DYT5b Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. Orphanet ICD-10:G24.1 ICD-11:8A02.11 MeSH:C537537 OMIM:605407 UMLS:C2673535 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101150 Autosomal recessive dopa-responsive dystonia ORPHA:101150 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537537 E (Exact mapping: the two concepts are equivalent) OMIM:605407 E (Exact mapping: the two concepts are equivalent) UMLS:C2673535 E (Exact mapping: the two concepts are equivalent) DYT14 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant dopa-responsive dystonia Dystonia 14 ORPHA:101151 APV/ADA, Fallot type Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome PVA/ADA, Fallot type Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Orphanet ICD-10:Q22.2 UMLS:C4707896 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome ORPHA:101206 ICD-10:Q22.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707896 E (Exact mapping: the two concepts are equivalent) PCT A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis. Orphanet ICD-10:E80.1 ICD-11:5C58.10 MeSH:D017119 MedDRA:10036183 OMIM:176090 OMIM:176100 UMLS:C0162566 Autosomal dominant Multigenic/multifactorial Adult Europe AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101330 Porphyria cutanea tarda ORPHA:101330 ICD-10:E80.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C58.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017119 E (Exact mapping: the two concepts are equivalent) MedDRA:10036183 E (Exact mapping: the two concepts are equivalent) OMIM:176090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:176100 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0162566 E (Exact mapping: the two concepts are equivalent) A rare bacterial infectious disease caused by the tick-borne bacterium <i>Rickettsia africae</i>, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent. Orphanet ICD-10:A77.1 ICD-11:1C31.1 UMLS:C1320317 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101334 African tick typhus ORPHA:101334 ICD-10:A77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1C31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1320317 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever OBSOLETE: Indian tick typhus ORPHA:101335 OBSOLETE: Kenya tick-bite fever This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever OBSOLETE: Kenya tick typhus ORPHA:101336 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever OBSOLETE: Marseilles fever ORPHA:101337 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever OBSOLETE: Mediterranean spotted fever ORPHA:101338 Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. Orphanet ICD-10:Q89.0 ICD-11:LB22.0 OMIM:271400 UMLS:C4512055 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101351 Familial isolated congenital asplenia ORPHA:101351 ICD-10:Q89.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:271400 E (Exact mapping: the two concepts are equivalent) UMLS:C4512055 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with a central nervous system malformation as a major feature OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome ORPHA:101356 Devriendt-Vandenberghe-Fryns syndrome A rare multiple congential anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Orphanet ICD-10:Q87.8 OMIM:601217 UMLS:C4303740 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601217 E (Exact mapping: the two concepts are equivalent) UMLS:C4303740 E (Exact mapping: the two concepts are equivalent) UMLS:C5681790 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101433 Rare urogenital disease Category Head of classification ORPHA:101433 UMLS:C5681790 E (Exact mapping: the two concepts are equivalent) Rare genetic ophthalmologic disease UMLS:C5680375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101435 Rare genetic eye disease Category ORPHA:101435 UMLS:C5680375 E (Exact mapping: the two concepts are equivalent) Rare NSID Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Orphanet ICD-10:F70 ICD-10:F71 ICD-10:F72 ICD-10:F73 UMLS:C4751233 Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Childhood Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101685 Rare non-syndromic intellectual disability ORPHA:101685 ICD-10:F70 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F71 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F72 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F73 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751233 E (Exact mapping: the two concepts are equivalent) Xq22.3 microdeletion syndrome A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y OMIM:150700 OMIM:308940 UMLS:C4511693 X-linked dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1018 X-linked Alport syndrome-diffuse leiomyomatosis Clinical subtype ORPHA:1018 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:150700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308940 E (Exact mapping: the two concepts are equivalent) UMLS:C4511693 E (Exact mapping: the two concepts are equivalent) Alport syndrome with macrothrombocytopenia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease UMLS:C0398641 Epstein syndrome ORPHA:1019 UMLS:C0398641 E (Exact mapping: the two concepts are equivalent) A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association. Orphanet ICD-10:Q23.8 ICD-11:LA87.13 UMLS:C3164517 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101932 Anomaly of the mitral subvalvular apparatus ORPHA:101932 ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.13 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3164517 E (Exact mapping: the two concepts are equivalent) UMLS:C5681782 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101934 Genetic cardiac rhythm disease Category ORPHA:101934 UMLS:C5681782 E (Exact mapping: the two concepts are equivalent) UMLS:C5681788 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101936 Rare gastroesophageal disease Category ORPHA:101936 UMLS:C5681788 E (Exact mapping: the two concepts are equivalent) UMLS:C5681789 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101937 Rare pancreatic disease Category ORPHA:101937 UMLS:C5681789 E (Exact mapping: the two concepts are equivalent) UMLS:C5681786 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101938 Rare vascular liver disease Category ORPHA:101938 UMLS:C5681786 E (Exact mapping: the two concepts are equivalent) UMLS:C5681787 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101939 Rare parenchymal liver disease Category ORPHA:101939 UMLS:C5681787 E (Exact mapping: the two concepts are equivalent) MedDRA:10019689 UMLS:C5681784 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101940 Rare metabolic liver disease Category ORPHA:101940 MedDRA:10019689 E (Exact mapping: the two concepts are equivalent) UMLS:C5681784 E (Exact mapping: the two concepts are equivalent) UMLS:C5681785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101941 Rare biliary tract disease Category ORPHA:101941 UMLS:C5681785 E (Exact mapping: the two concepts are equivalent) UMLS:C5681783 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101943 Rare hepatic and biliary tract tumor Category ORPHA:101943 UMLS:C5681783 E (Exact mapping: the two concepts are equivalent) UMLS:C5681796 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101944 Rare pulmonary disease Category ORPHA:101944 UMLS:C5681796 E (Exact mapping: the two concepts are equivalent) UMLS:C5681795 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101945 Rare bronchopulmonary and pleural cavity tumors Category ORPHA:101945 UMLS:C5681795 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare ophthalmic disorder OBSOLETE: Rare acquired eye disease ORPHA:101949 UMLS:C5681794 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101950 Rare eye tumor Category ORPHA:101950 UMLS:C5681794 E (Exact mapping: the two concepts are equivalent) UMLS:C5681799 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101952 Rare diabetes mellitus Category ORPHA:101952 UMLS:C5681799 E (Exact mapping: the two concepts are equivalent) UMLS:C5681798 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101953 Rare dyslipidemia Category ORPHA:101953 UMLS:C5681798 E (Exact mapping: the two concepts are equivalent) UMLS:C5681801 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101954 Rare adrenal disease Category ORPHA:101954 UMLS:C5681801 E (Exact mapping: the two concepts are equivalent) UMLS:C5681800 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101955 Rare thyroid disease Category ORPHA:101955 UMLS:C5681800 E (Exact mapping: the two concepts are equivalent) UMLS:C5681797 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101956 Polyendocrinopathy Category ORPHA:101956 UMLS:C5681797 E (Exact mapping: the two concepts are equivalent) ICD-10:E23.0 ICD-11:5A61.0 UMLS:C0020635 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101957 Pituitary deficiency Category ORPHA:101957 ICD-10:E23.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0020635 E (Exact mapping: the two concepts are equivalent) MedDRA:10052381 UMLS:C3887896 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101958 Primary adrenal insufficiency Category ORPHA:101958 MedDRA:10052381 E (Exact mapping: the two concepts are equivalent) UMLS:C3887896 E (Exact mapping: the two concepts are equivalent) CPAI Chronic adrenocorticoid insufficiency Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. Orphanet Multigenic/multifactorial All ages Europe AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101959 Chronic primary adrenal insufficiency Category ORPHA:101959 UMLS:C5681791 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101960 Genetic chronic primary adrenal insufficiency Category ORPHA:101960 UMLS:C5681791 E (Exact mapping: the two concepts are equivalent) UMLS:C5681792 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101963 Acquired chronic primary adrenal insufficiency Category ORPHA:101963 UMLS:C5681792 E (Exact mapping: the two concepts are equivalent) ICD-10:D81 ICD-11:4A01.1 UMLS:C5681793 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101972 Combined T and B cell immunodeficiency Clinical group ORPHA:101972 ICD-10:D81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681793 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01.0 UMLS:C5681776 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101977 Immunodeficiency predominantly affecting antibody production Category ORPHA:101977 ICD-11:4A01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681776 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Immunodeficiency predominantly affecting antibody production OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells ORPHA:101978 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells ORPHA:101980 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells ORPHA:101982 UMLS:C5681777 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101985 Quantitative and/or qualitative congenital phagocyte defect Category ORPHA:101985 UMLS:C5681777 E (Exact mapping: the two concepts are equivalent) Constitutional neutropenia ICD-10:D70 ICD-11:4B00.00 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101987 Congenital neutropenia Category ORPHA:101987 ICD-10:D70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B00.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A00 UMLS:C5681778 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101988 Primary immunodeficiency due to a defect in innate immunity Category ORPHA:101988 ICD-11:4A00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681778 E (Exact mapping: the two concepts are equivalent) ICD-10:D84.1 ICD-11:4A00.1 UMLS:C5681769 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101992 Immunodeficiency due to a complement cascade protein anomaly Category ORPHA:101992 ICD-10:D84.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A00.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681769 E (Exact mapping: the two concepts are equivalent) MedDRA:10034533 UMLS:C3889979 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101995 Periodic fever syndrome Category ORPHA:101995 MedDRA:10034533 E (Exact mapping: the two concepts are equivalent) UMLS:C3889979 E (Exact mapping: the two concepts are equivalent) MeSH:D000081207 MedDRA:10064859 UMLS:C0398686 Australia AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.79 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000 Oman AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 1.33 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.84 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101997 Primary immunodeficiency Category ORPHA:101997 MeSH:D000081207 E (Exact mapping: the two concepts are equivalent) MedDRA:10064859 E (Exact mapping: the two concepts are equivalent) UMLS:C0398686 E (Exact mapping: the two concepts are equivalent) UMLS:C5681770 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101998 Rare epilepsy Category ORPHA:101998 UMLS:C5681770 E (Exact mapping: the two concepts are equivalent) MSA Multisystem atrophy Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. Orphanet ICD-10:G23.2 ICD-10:G23.3 ICD-11:8D87.0 MeSH:D019578 MedDRA:10064060 OMIM:146500 UMLS:C0393571 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Faroe Islands AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 10.3 AND has_point_prevalence_range : 1-5 / 10 000 Russian Federation AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102 Multiple system atrophy ORPHA:102 ICD-10:G23.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G23.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D87.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D019578 E (Exact mapping: the two concepts are equivalent) MedDRA:10064060 E (Exact mapping: the two concepts are equivalent) OMIM:146500 E (Exact mapping: the two concepts are equivalent) UMLS:C0393571 E (Exact mapping: the two concepts are equivalent) EOFAD Early-onset familial autosomal dominant Alzheimer disease Familial Alzheimer disease Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. Orphanet ICD-10:G30.0 ICD-11:6D80.0 OMIM:104300 OMIM:104310 OMIM:602096 OMIM:604154 OMIM:605055 OMIM:605526 OMIM:606187 OMIM:606889 OMIM:607116 OMIM:607822 OMIM:609636 OMIM:609790 OMIM:611073 OMIM:611152 OMIM:611154 UMLS:C0276496 Autosomal dominant Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1020 Early-onset autosomal dominant Alzheimer disease ORPHA:1020 ICD-10:G30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D80.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:104300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:104310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602096 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604154 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605055 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605526 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606187 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606889 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607116 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607822 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609636 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609790 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611073 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611152 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611154 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0276496 E (Exact mapping: the two concepts are equivalent) UMLS:C5681773 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102000 Medullar disease Category ORPHA:102000 UMLS:C5681773 E (Exact mapping: the two concepts are equivalent) UMLS:C5681771 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102002 Rare ataxia Category ORPHA:102002 UMLS:C5681771 E (Exact mapping: the two concepts are equivalent) UMLS:C5681772 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102003 Rare movement disorder Category ORPHA:102003 UMLS:C5681772 E (Exact mapping: the two concepts are equivalent) UMLS:C5681775 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102005 Brain inflammatory disease Category ORPHA:102005 UMLS:C5681775 E (Exact mapping: the two concepts are equivalent) UMLS:C5681774 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102006 Neurovascular malformation Category ORPHA:102006 UMLS:C5681774 E (Exact mapping: the two concepts are equivalent) Lissencephaly type 1 ICD-11:LD20.1 UMLS:C0431375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102009 Classic lissencephaly Clinical group ORPHA:102009 ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431375 E (Exact mapping: the two concepts are equivalent) ICD-11:LD20.1 UMLS:C5681781 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102010 Other syndrome with lissencephaly as a major feature Category ORPHA:102010 ICD-11:LD20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681781 E (Exact mapping: the two concepts are equivalent) ICD-11:LD20.1 MeSH:C566908 UMLS:C1969029 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102011 Lissencephaly type 3 Clinical group ORPHA:102011 ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566908 E (Exact mapping: the two concepts are equivalent) UMLS:C1969029 E (Exact mapping: the two concepts are equivalent) Pure HSP Pure SPG Pure familial spastic paraplegia Uncomplicated HSP Uncomplicated SPG Uncomplicated familial spastic paraplegia Uncomplicated hereditary spastic paraplegia UMLS:C0393555 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102012 Pure hereditary spastic paraplegia Clinical group ORPHA:102012 UMLS:C0393555 E (Exact mapping: the two concepts are equivalent) Complex HSP Complex SPG Complex familial spastic paraplegia Complicated HSP Complicated SPG Complicated familial spastic paraplegia Complicated hereditary spastic paraplegia UMLS:C0393556 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102013 Complex hereditary spastic paraplegia Clinical group ORPHA:102013 UMLS:C0393556 E (Exact mapping: the two concepts are equivalent) ICD-11:8C70.40 UMLS:C5675009 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102014 Autosomal dominant limb-girdle muscular dystrophy Category ORPHA:102014 ICD-11:8C70.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5675009 E (Exact mapping: the two concepts are equivalent) ICD-11:8C70.41 MeSH:C538640 UMLS:C2931907 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102015 Autosomal recessive limb-girdle muscular dystrophy Category ORPHA:102015 ICD-11:8C70.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538640 E (Exact mapping: the two concepts are equivalent) UMLS:C2931907 E (Exact mapping: the two concepts are equivalent) Autosomal deletion ICD-11:LD43 ICD-11:LD44 UMLS:C0026499 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102020 Autosomal monosomy syndrome Category ORPHA:102020 ICD-11:LD43 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD44 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0026499 E (Exact mapping: the two concepts are equivalent) Rickettsiae disease MeSH:D012282 UMLS:C0035585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102021 Rickettsial disease Category ORPHA:102021 MeSH:D012282 E (Exact mapping: the two concepts are equivalent) UMLS:C0035585 E (Exact mapping: the two concepts are equivalent) Spotted fever rickettsiae disease ICD-11:1C31 UMLS:C5680374 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102022 Spotted fever rickettsiosis Category ORPHA:102022 ICD-11:1C31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680374 E (Exact mapping: the two concepts are equivalent) Typhus-group rickettsiae disease ICD-11:1C30 UMLS:C0343758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102023 Typhus-group rickettsiosis Category ORPHA:102023 ICD-11:1C30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0343758 E (Exact mapping: the two concepts are equivalent) HHV-8-related disorder UMLS:C5680371 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102024 Human herpesvirus 8-related disorder Category ORPHA:102024 UMLS:C5680371 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Nuclear cell envelopathy ORPHA:102025 OBSOLETE: Cholestatic hepatic amyloidosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary localized amyloidosis OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis ORPHA:102069 A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C536604 OMIM:204110 UMLS:C4303739 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1021 Amaurosis-hypertrichosis syndrome ORPHA:1021 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536604 E (Exact mapping: the two concepts are equivalent) OMIM:204110 E (Exact mapping: the two concepts are equivalent) UMLS:C4303739 E (Exact mapping: the two concepts are equivalent) UMLS:C5681779 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102237 Unexplained periodic fever syndrome Category ORPHA:102237 UMLS:C5681779 E (Exact mapping: the two concepts are equivalent) MCA/MR Multiple congenital anomalies-intellectual disability with or without dysmorphism UMLS:C5680372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability Category ORPHA:102283 UMLS:C5680372 E (Exact mapping: the two concepts are equivalent) OBSOLETE: MCA/variable MR OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ORPHA:102284 MCA without intellectual disability Multiple congenital anomalies without intellectual disability with or without dysmorphism UMLS:C5680373 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability Category ORPHA:102285 UMLS:C5680373 E (Exact mapping: the two concepts are equivalent) Ambras syndrome Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. Orphanet ICD-10:Q84.2 ICD-11:LD27.0Y MeSH:C536605 OMIM:145701 UMLS:C1840362 Unknown Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1023 Congenital generalized hypertrichosis, Ambras type Clinical subtype ORPHA:1023 ICD-10:Q84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536605 E (Exact mapping: the two concepts are equivalent) OMIM:145701 E (Exact mapping: the two concepts are equivalent) UMLS:C1840362 E (Exact mapping: the two concepts are equivalent) UMLS:C5681780 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102369 Rare syndromic intellectual disability Category ORPHA:102369 UMLS:C5681780 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Glomerular disease OBSOLETE: Primary glomerular disease ORPHA:102373 AML and myelodysplastic syndromes related to alkylating agent A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). Orphanet ICD-10:C92.8 ICD-11:2A60.20 UMLS:C1332234 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent ORPHA:102379 ICD-10:C92.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1332234 E (Exact mapping: the two concepts are equivalent) AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. Orphanet ICD-10:C92.0 ICD-11:2A60.20 UMLS:C4707659 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ORPHA:102381 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707659 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tetraamelia-multiple malformations syndrome MeSH:C563338 OMIM:601360 UMLS:C1832432 Autosomal recessive amelia ORPHA:1027 MeSH:C563338 E (Exact mapping: the two concepts are equivalent) OMIM:601360 E (Exact mapping: the two concepts are equivalent) UMLS:C1832432 E (Exact mapping: the two concepts are equivalent) AML with t(8;21)(q22;q22) translocation A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count. Orphanet ICD-10:C92.0 ICD-11:2A60.0 UMLS:C5680370 Adolescent Adult Childhood Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation ORPHA:102724 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680370 E (Exact mapping: the two concepts are equivalent) Ameloonychohypohidrotic ectodermal dysplasia Ameloonychohypohidrotic syndrome A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal puncta may be occasionally absent. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C538245 OMIM:104570 UMLS:C1863006 No data available Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1028 Amelo-onycho-hypohidrotic syndrome ORPHA:1028 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538245 E (Exact mapping: the two concepts are equivalent) OMIM:104570 E (Exact mapping: the two concepts are equivalent) UMLS:C1863006 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hereditary optic neuropathy OBSOLETE: Genetic optic atrophy ORPHA:103 Amelogenesis imperfecta-nephrocalcinosis syndrome A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure. Orphanet ICD-10:K00.5 ICD-11:LA30.6 MeSH:C538241 OMIM:204690 UMLS:C2931783 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1031 Enamel-renal syndrome ORPHA:1031 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538241 E (Exact mapping: the two concepts are equivalent) OMIM:204690 E (Exact mapping: the two concepts are equivalent) UMLS:C2931783 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Lysinuric protein intolerance OBSOLETE: Hyperdibasic aminoaciduria type 1 ORPHA:1032 OBSOLETE: ADAM syndrome OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Amniotic bands ORPHA:1034 3-mercaptopyruvate sulfurtransferase deficiency Ampola syndrome MCDU An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:E72.1 OMIM:249650 UMLS:C0796055 No data available Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1035 Beta-mercaptolactate cysteine disulfiduria ORPHA:1035 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:249650 E (Exact mapping: the two concepts are equivalent) UMLS:C0796055 E (Exact mapping: the two concepts are equivalent) AMC Multiple congenital arthrogryposis A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. Orphanet ICD-10:Q74.3 ICD-11:LD26.41 MedDRA:10051643 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Neonatal Australia AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1037 Arthrogryposis multiplex congenita Clinical group ORPHA:1037 ICD-10:Q74.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD26.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10051643 E (Exact mapping: the two concepts are equivalent) Maltase-glucoamylase deficiency A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. Orphanet ICD-10:E74.3 ICD-11:5C61.1 UMLS:C4275068 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103907 Chronic diarrhea due to glucoamylase deficiency ORPHA:103907 ICD-10:E74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C61.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4275068 E (Exact mapping: the two concepts are equivalent) CSD NHE3 deficiency Na-H exchanger 3 deficiency Non-syndromic congenital sodium diarrhea Sodium/proton exchanger-3 deficiency A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. Orphanet ICD-10:K90.8 ICD-11:DA90.1 OMIM:270420 OMIM:616868 UMLS:C0267663 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103908 Congenital sodium diarrhea ORPHA:103908 ICD-10:K90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:270420 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616868 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0267663 E (Exact mapping: the two concepts are equivalent) Isolated trehalose intolerance A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere. Orphanet ICD-10:E74.3 ICD-11:5C61.3 MeSH:C562603 OMIM:612119 UMLS:C0268187 Autosomal dominant Adolescent Adult Greenland AND has_annual_incidence_average_value : 7700.0 AND has_annual_incidence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103909 Trehalase deficiency ORPHA:103909 ICD-10:E74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C61.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562603 E (Exact mapping: the two concepts are equivalent) OMIM:612119 E (Exact mapping: the two concepts are equivalent) UMLS:C0268187 E (Exact mapping: the two concepts are equivalent) A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal. Orphanet ICD-10:P78.3 ICD-11:DA90.Y UMLS:C4511238 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103910 Congenital enterocyte heparan sulfate deficiency ORPHA:103910 ICD-10:P78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4511238 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inflammatory bowel disease OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome ORPHA:103912 OBSOLETE: IPSID OBSOLETE: Mediterranean lymphoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Alpha-heavy chain disease OBSOLETE: Immunoproliferative small intestinal disease ORPHA:103915 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic autoimmune enteropathy OBSOLETE: Autoimmune enteropathy type 2 ORPHA:103916 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic autoimmune enteropathy OBSOLETE: Autoimmune enteropathy type 3 ORPHA:103917 TCP Tropical calcific chronic pancreatitis A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. Orphanet ICD-10:K86.1 ICD-11:DC32.5 MeSH:C564276 OMIM:608189 UMLS:C1842402 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103918 Tropical pancreatitis ORPHA:103918 ICD-10:K86.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DC32.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C564276 E (Exact mapping: the two concepts are equivalent) OMIM:608189 E (Exact mapping: the two concepts are equivalent) UMLS:C1842402 E (Exact mapping: the two concepts are equivalent) AIP A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1, which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2, which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. Orphanet ICD-11:DC33 MeSH:D000081012 MedDRA:10069002 UMLS:C2609129 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103919 Autoimmune pancreatitis Clinical group ORPHA:103919 ICD-11:DC33 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000081012 E (Exact mapping: the two concepts are equivalent) MedDRA:10069002 E (Exact mapping: the two concepts are equivalent) UMLS:C2609129 E (Exact mapping: the two concepts are equivalent) Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. Orphanet ICD-10:K52.3 ICD-11:DD72 UMLS:C5681748 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103920 Undetermined colitis ORPHA:103920 ICD-10:K52.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DD72 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681748 E (Exact mapping: the two concepts are equivalent) LHON Leber optic atrophy A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy. Orphanet ICD-10:H47.2 ICD-11:8C73.Y MeSH:D029242 OMIM:308905 OMIM:535000 OMIM:619382 UMLS:C0917796 Mitochondrial inheritance Adolescent Adult Denmark AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.9743 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 3.22 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104 Leber hereditary optic neuropathy ORPHA:104 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D029242 E (Exact mapping: the two concepts are equivalent) OMIM:308905 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:535000 E (Exact mapping: the two concepts are equivalent) OMIM:619382 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0917796 E (Exact mapping: the two concepts are equivalent) Maroteaux-Verloes-Stanescu syndrome Regressive metaphyseal dysplasia A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. Orphanet ICD-10:Q78.5 ICD-11:LD24.7 MeSH:C537351 OMIM:602111 OMIM:613073 UMLS:C0432226 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1040 Metaphyseal anadysplasia ORPHA:1040 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537351 E (Exact mapping: the two concepts are equivalent) OMIM:602111 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613073 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432226 E (Exact mapping: the two concepts are equivalent) ICD-11:DA90.1 UMLS:C5681747 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104003 Congenital intestinal transport defect Category ORPHA:104003 ICD-11:DA90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681747 E (Exact mapping: the two concepts are equivalent) UMLS:C5681746 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104004 Intestinal disease due to vitamin absorption anomaly Category ORPHA:104004 UMLS:C5681746 E (Exact mapping: the two concepts are equivalent) UMLS:C5681745 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104005 Intestinal disease due to fat malabsorption Category ORPHA:104005 UMLS:C5681745 E (Exact mapping: the two concepts are equivalent) UMLS:C5681744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104006 Congenital intestinal disease due to an enzymatic defect Category ORPHA:104006 UMLS:C5681744 E (Exact mapping: the two concepts are equivalent) UMLS:C5681743 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104007 Congenital enteropathy involving intestinal mucosa development Category ORPHA:104007 UMLS:C5681743 E (Exact mapping: the two concepts are equivalent) Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. Orphanet ICD-11:DA96.04 MeSH:D012778 MedDRA:10049416 UMLS:C0036992 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104008 Short bowel syndrome Clinical group ORPHA:104008 ICD-11:DA96.04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012778 E (Exact mapping: the two concepts are equivalent) MedDRA:10049416 E (Exact mapping: the two concepts are equivalent) UMLS:C0036992 E (Exact mapping: the two concepts are equivalent) UMLS:C5681742 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104009 Rare disease involving intestinal motility Category ORPHA:104009 UMLS:C5681742 E (Exact mapping: the two concepts are equivalent) MeSH:D044483 MedDRA:10057018 UMLS:C0345891 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104010 Intestinal polyposis syndrome Clinical group ORPHA:104010 MeSH:D044483 E (Exact mapping: the two concepts are equivalent) MedDRA:10057018 E (Exact mapping: the two concepts are equivalent) UMLS:C0345891 E (Exact mapping: the two concepts are equivalent) Rare intestinal tumor Rare tumor of bowel UMLS:C5680369 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104011 Rare tumor of intestine Category ORPHA:104011 UMLS:C5680369 E (Exact mapping: the two concepts are equivalent) UMLS:C5681741 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104012 Rare inflammatory bowel disease Category ORPHA:104012 UMLS:C5681741 E (Exact mapping: the two concepts are equivalent) UMLS:C5681740 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104013 Metabolic disease with intestinal involvement Category ORPHA:104013 UMLS:C5681740 E (Exact mapping: the two concepts are equivalent) Adenocarcinoma of the small bowel Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis. Orphanet ICD-10:D01.4 ICD-11:2B80.20 MedDRA:10073373 UMLS:C0278803 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.734 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.174 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.308 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.588 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.574 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.657 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.551 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.724 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.564 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.79 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.265 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.277 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.377 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.626 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.788 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.219 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.743 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.462 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.477 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.679 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104075 Adenocarcinoma of the small intestine ORPHA:104075 ICD-10:D01.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B80.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10073373 E (Exact mapping: the two concepts are equivalent) UMLS:C0278803 E (Exact mapping: the two concepts are equivalent) Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases. Orphanet ICD-10:C17.0 ICD-10:C17.1 ICD-10:C17.2 ICD-10:C17.3 ICD-10:C17.8 ICD-11:2B58.Y MedDRA:10041127 UMLS:C0920305 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104076 Leiomyosarcoma of small intestine ORPHA:104076 ICD-10:C17.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B58.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10041127 E (Exact mapping: the two concepts are equivalent) UMLS:C0920305 E (Exact mapping: the two concepts are equivalent) ICD-10:K59.8 ICD-11:DA90.2 UMLS:C5681739 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104077 Myopathic intestinal pseudoobstruction Etiological subtype ORPHA:104077 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681739 E (Exact mapping: the two concepts are equivalent) ICD-10:K59.8 ICD-11:DA90.2 UMLS:C5681767 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104078 Unclassified intestinal pseudoobstruction Etiological subtype ORPHA:104078 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681767 E (Exact mapping: the two concepts are equivalent) Fetal anasarca Fetal hydrops Generalized fetal edema HF Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). Orphanet ICD-10:P56.0 ICD-10:P56.9 ICD-10:P83.2 ICD-11:KA85 ICD-11:KA85.0 ICD-11:KA85.Y ICD-11:KC41.1 MeSH:D015160 MedDRA:10020529 OMIM:236750 UMLS:C0020305 Not applicable Antenatal Ireland AND has_birth_prevalence_average_value : 134.0 AND has_birth_prevalence_range : >1 / 1000 Thailand AND has_birth_prevalence_average_value : 180.0 AND has_birth_prevalence_range : >1 / 1000 Turkey AND has_birth_prevalence_average_value : 380.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1041 Hydrops fetalis ORPHA:1041 ICD-10:P56.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:P56.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:P83.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA85 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA85.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA85.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KC41.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015160 E (Exact mapping: the two concepts are equivalent) MedDRA:10020529 E (Exact mapping: the two concepts are equivalent) OMIM:236750 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020305 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare constitutional hemolytic anemia due to an enzyme disorder OBSOLETE: Anemia due to adenosine triphosphatase deficiency ORPHA:1044 Water-West syndrome A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:D58.8 OMIM:600461 UMLS:C4304746 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1046 Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:600461 E (Exact mapping: the two concepts are equivalent) UMLS:C4304746 E (Exact mapping: the two concepts are equivalent) Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms). Orphanet MeSH:D000756 MedDRA:10040661 OMIM:182170 OMIM:205950 OMIM:300751 OMIM:619523 UMLS:C0002896 Autosomal dominant Autosomal recessive Mitochondrial inheritance Not applicable X-linked dominant X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1047 Sideroblastic anemia Category ORPHA:1047 MeSH:D000756 E (Exact mapping: the two concepts are equivalent) MedDRA:10040661 E (Exact mapping: the two concepts are equivalent) OMIM:182170 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:205950 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300751 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619523 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0002896 E (Exact mapping: the two concepts are equivalent) A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain). Orphanet ICD-10:Q04.8 ICD-11:LA00.0 ICD-11:LA00.Y OMIM:206500 OMIM:619452 UMLS:C5680972 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 35.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 India AND has_birth_prevalence_average_value : 210.0 AND has_birth_prevalence_range : >1 / 1000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 120.0 AND has_birth_prevalence_range : >1 / 1000 Singapore AND has_birth_prevalence_average_value : 58.0 AND has_birth_prevalence_range : 1-5 / 10 000 Thailand AND has_birth_prevalence_average_value : 26.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 20.6 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1048 Isolated anencephaly/exencephaly ORPHA:1048 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA00.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA00.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:206500 E (Exact mapping: the two concepts are equivalent) OMIM:619452 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680972 E (Exact mapping: the two concepts are equivalent) Urethral atresia A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting <i>in utero</i> as megacystis, oligohydramnios or anhydramnios, and potter sequence. Orphanet ICD-10:Q64.3 ICD-11:LB31.2 MedDRA:10064895 UMLS:C0345345 Not applicable Antenatal Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=105 Atresia of urethra ORPHA:105 ICD-10:Q64.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064895 E (Exact mapping: the two concepts are equivalent) UMLS:C0345345 E (Exact mapping: the two concepts are equivalent) Corneal anesthesia-deafness-intellectual disability syndrome Corneal anesthesia-hearing loss-intellectual disability syndrome Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C535286 OMIM:122430 UMLS:C2930866 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1051 Ramos-Arroyo syndrome ORPHA:1051 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535286 E (Exact mapping: the two concepts are equivalent) OMIM:122430 E (Exact mapping: the two concepts are equivalent) UMLS:C2930866 E (Exact mapping: the two concepts are equivalent) Warburton-Anyane-Yeboa syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. Orphanet ICD-10:Q99.8 ICD-11:LD7Y MeSH:C536682 OMIM:257300 OMIM:614114 OMIM:617598 OMIM:620153 OMIM:620189 UMLS:C4551972 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 41.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1052 Mosaic variegated aneuploidy syndrome ORPHA:1052 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536682 E (Exact mapping: the two concepts are equivalent) OMIM:257300 E (Exact mapping: the two concepts are equivalent) OMIM:614114 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617598 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620153 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620189 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551972 E (Exact mapping: the two concepts are equivalent) Vein of Galen arteriovenous malformations A rare intracranial congenital high-flow vascular malformation characterized by arteriovenous shunts draining into the median prosencephalic vein of Markowski, embryonic precursor of the vein of Galen, typically presenting in neonates or infants. Orphanet ICD-10:Q28.2 ICD-11:LA90.20 MeSH:C536535 MedDRA:10077889 UMLS:C0431420 Not applicable Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1053 Vein of Galen aneurysmal malformation ORPHA:1053 ICD-10:Q28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536535 E (Exact mapping: the two concepts are equivalent) MedDRA:10077889 E (Exact mapping: the two concepts are equivalent) UMLS:C0431420 E (Exact mapping: the two concepts are equivalent) SOVA SVA Sinus of Valsalva aneurysm A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. Orphanet ICD-10:Q25.4 ICD-11:LA8A.4 UMLS:C2239253 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1054 Aneurysm of sinus of Valsalva ORPHA:1054 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8A.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2239253 E (Exact mapping: the two concepts are equivalent) A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. Orphanet ICD-10:Q24.8 ICD-11:LA88.Y UMLS:C0344915 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1055 Congenital left ventricular aneurysm ORPHA:1055 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344915 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare disease with thoracic aortic aneurysm and aortic dissection OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome ORPHA:1057 BRBN Bean syndrome A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. Orphanet ICD-10:Q27.8 ICD-11:LC51 MeSH:C536240 OMIM:112200 UMLS:C0346072 Autosomal dominant Not applicable Childhood Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1059 Blue rubber bleb nevus ORPHA:1059 ICD-10:Q27.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536240 E (Exact mapping: the two concepts are equivalent) OMIM:112200 E (Exact mapping: the two concepts are equivalent) UMLS:C0346072 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:F84.0 NON RARE IN EUROPE: Autism ORPHA:106 ICD-10:F84.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Brunzell syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital generalized lipodystrophy Systemic cystic angiomatosis-Seip syndrome ORPHA:1060 A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:D18.0 ICD-11:LD2D.Y MeSH:C536364 OMIM:106070 UMLS:C5680615 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1062 Hereditary neurocutaneous malformation ORPHA:1062 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536364 E (Exact mapping: the two concepts are equivalent) OMIM:106070 E (Exact mapping: the two concepts are equivalent) UMLS:C5680615 E (Exact mapping: the two concepts are equivalent) Nakagawa angioblastoma A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation. Orphanet ICD-10:D18.0 ICD-11:2F2Y MeSH:C536924 OMIM:607859 UMLS:C0346073 Multigenic/multifactorial Not applicable Childhood Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1063 Tufted angioma ORPHA:1063 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536924 E (Exact mapping: the two concepts are equivalent) OMIM:607859 E (Exact mapping: the two concepts are equivalent) UMLS:C0346073 E (Exact mapping: the two concepts are equivalent) Sommer-Rathbun-Battles syndrome An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q87.8 MeSH:C536371 OMIM:206750 UMLS:C4518585 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1064 Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536371 E (Exact mapping: the two concepts are equivalent) OMIM:206750 E (Exact mapping: the two concepts are equivalent) UMLS:C4518585 E (Exact mapping: the two concepts are equivalent) Gillespie syndrome A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. Orphanet ICD-10:G11.0 MeSH:C536370 MedDRA:10083858 OMIM:206700 UMLS:C0431401 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1065 Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536370 E (Exact mapping: the two concepts are equivalent) MedDRA:10083858 E (Exact mapping: the two concepts are equivalent) OMIM:206700 E (Exact mapping: the two concepts are equivalent) UMLS:C0431401 E (Exact mapping: the two concepts are equivalent) An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q13.1 UMLS:C4303736 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067 ICD-10:Q13.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303736 E (Exact mapping: the two concepts are equivalent) Walker-Dyson syndrome An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q13.1 MeSH:C536568 UMLS:C2931243 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1068 Aniridia-intellectual disability syndrome ORPHA:1068 ICD-10:Q13.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536568 E (Exact mapping: the two concepts are equivalent) UMLS:C2931243 E (Exact mapping: the two concepts are equivalent) A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q87.8 MeSH:C566281 OMIM:106220 UMLS:C1862868 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1069 Aniridia-absent patella syndrome ORPHA:1069 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566281 E (Exact mapping: the two concepts are equivalent) OMIM:106220 E (Exact mapping: the two concepts are equivalent) UMLS:C1862868 E (Exact mapping: the two concepts are equivalent) Branchiootorenal spectrum disorder Branchiootorenal syndrome Melnick-Fraser syndrome A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:D019280 MedDRA:10071135 OMIM:113650 OMIM:610896 UMLS:C0265234 Autosomal dominant Childhood Infancy Neonatal Canada AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=107 BOR syndrome ORPHA:107 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019280 E (Exact mapping: the two concepts are equivalent) MedDRA:10071135 E (Exact mapping: the two concepts are equivalent) OMIM:113650 E (Exact mapping: the two concepts are equivalent) OMIM:610896 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265234 E (Exact mapping: the two concepts are equivalent) A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus <i>Anisakis</i>, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock). Orphanet ICD-10:B81.0 ICD-11:1F61 MeSH:D017129 MedDRA:10002533 UMLS:C0162576 Adolescent Adult Childhood Elderly Japan AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1070 Anisakiasis ORPHA:1070 ICD-10:B81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017129 E (Exact mapping: the two concepts are equivalent) MedDRA:10002533 E (Exact mapping: the two concepts are equivalent) UMLS:C0162576 E (Exact mapping: the two concepts are equivalent) AEC syndrome Hay-Wells syndrome An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C535847 OMIM:106260 UMLS:C0406709 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535847 E (Exact mapping: the two concepts are equivalent) OMIM:106260 E (Exact mapping: the two concepts are equivalent) UMLS:C0406709 E (Exact mapping: the two concepts are equivalent) A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y OMIM:106250 UMLS:C1862866 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome Clinical subtype ORPHA:1072 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:106250 E (Exact mapping: the two concepts are equivalent) UMLS:C1862866 E (Exact mapping: the two concepts are equivalent) Aughton-Hufnagle syndrome A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y UMLS:C4751231 Unknown Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Clinical subtype ORPHA:1074 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751231 E (Exact mapping: the two concepts are equivalent) Ankylosis of teeth A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility. Orphanet ICD-10:K03.5 ICD-11:DA07.61 MeSH:D020254 MedDRA:10044019 UMLS:C0155930 Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1077 Dental ankylosis ORPHA:1077 ICD-10:K03.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DA07.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020254 E (Exact mapping: the two concepts are equivalent) MedDRA:10044019 E (Exact mapping: the two concepts are equivalent) UMLS:C0155930 E (Exact mapping: the two concepts are equivalent) Piussan-Lenaerts-Mathieu syndrome A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.2 MeSH:C537511 OMIM:188201 UMLS:C2931515 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1078 Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537511 E (Exact mapping: the two concepts are equivalent) OMIM:188201 E (Exact mapping: the two concepts are equivalent) UMLS:C2931515 E (Exact mapping: the two concepts are equivalent) Babesiosis is an infectious disease caused by protozoa of the genus <i>Babesia</i> and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death. Orphanet ICD-10:B60.0 ICD-11:1F52 MeSH:D001404 MedDRA:10003965 UMLS:C0004576 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108 Babesiosis ORPHA:108 ICD-10:B60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001404 E (Exact mapping: the two concepts are equivalent) MedDRA:10003965 E (Exact mapping: the two concepts are equivalent) UMLS:C0004576 E (Exact mapping: the two concepts are equivalent) ICD-10:Q24.5 ICD-11:LA8C MedDRA:10061060 UMLS:C0158623 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1081 Coronary artery congenital malformation Category ORPHA:1081 ICD-10:Q24.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10061060 E (Exact mapping: the two concepts are equivalent) UMLS:C0158623 E (Exact mapping: the two concepts are equivalent) Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:614019 OMIM:616212 UMLS:C1956147 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1083 Microlissencephaly ORPHA:1083 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614019 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616212 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1956147 E (Exact mapping: the two concepts are equivalent) Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 UMLS:C4275151 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1084 Isolated lissencephaly type 1 without known genetic defects ORPHA:1084 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275151 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Rommen-Mueller-Sybert syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome ORPHA:1088 UMLS:C5681768 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108959 Non-syndromic esophageal malformation Category ORPHA:108959 UMLS:C5681768 E (Exact mapping: the two concepts are equivalent) UMLS:C5681763 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108961 Syndromic esophageal malformation Category ORPHA:108961 UMLS:C5681763 E (Exact mapping: the two concepts are equivalent) UMLS:C5681764 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108963 Non-syndromic gastroduodenal malformation Category ORPHA:108963 UMLS:C5681764 E (Exact mapping: the two concepts are equivalent) UMLS:C5681765 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108965 Syndromic gastroduodenal malformation Category ORPHA:108965 UMLS:C5681765 E (Exact mapping: the two concepts are equivalent) UMLS:C5681766 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108967 Non-syndromic intestinal malformation Category ORPHA:108967 UMLS:C5681766 E (Exact mapping: the two concepts are equivalent) UMLS:C5681760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108969 Syndromic intestinal malformation Category ORPHA:108969 UMLS:C5681760 E (Exact mapping: the two concepts are equivalent) UMLS:C5681761 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108971 Non-syndromic visceral malformation Category ORPHA:108971 UMLS:C5681761 E (Exact mapping: the two concepts are equivalent) UMLS:C5681762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108973 Syndromic visceral malformation Category ORPHA:108973 UMLS:C5681762 E (Exact mapping: the two concepts are equivalent) UMLS:C5681758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108977 Non-syndromic diaphragmatic or abdominal wall malformation Category ORPHA:108977 UMLS:C5681758 E (Exact mapping: the two concepts are equivalent) UMLS:C5681759 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108979 Syndromic diaphragmatic or abdominal wall malformation Category ORPHA:108979 UMLS:C5681759 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Structural developmental eye defect OBSOLETE: Non-syndromic developmental defect of the eye ORPHA:108985 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Structural developmental eye defect OBSOLETE: Syndromic developmental defect of the eye ORPHA:108987 UMLS:C5681757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108989 Non-syndromic central nervous system malformation Category ORPHA:108989 UMLS:C5681757 E (Exact mapping: the two concepts are equivalent) UMLS:C5681756 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108991 Syndrome with a central nervous system malformation as a major feature Category ORPHA:108991 UMLS:C5681756 E (Exact mapping: the two concepts are equivalent) UMLS:C5681753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108993 Non-syndromic respiratory or mediastinal malformation Category ORPHA:108993 UMLS:C5681753 E (Exact mapping: the two concepts are equivalent) UMLS:C5681752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108995 Syndromic respiratory or mediastinal malformation Category ORPHA:108995 UMLS:C5681752 E (Exact mapping: the two concepts are equivalent) UMLS:C5681755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108997 Rare anemia Category ORPHA:108997 UMLS:C5681755 E (Exact mapping: the two concepts are equivalent) UMLS:C5681754 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108999 Rare disorder due to toxic effects Category Head of classification ORPHA:108999 UMLS:C5681754 E (Exact mapping: the two concepts are equivalent) BRRS Myhre-Riley-Smith syndrome A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. Orphanet ICD-10:Q87.8 ICD-11:LD2D.Y MedDRA:10080314 OMIM:158350 UMLS:C0265326 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109 Bannayan-Riley-Ruvalcaba syndrome ORPHA:109 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10080314 E (Exact mapping: the two concepts are equivalent) OMIM:158350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0265326 E (Exact mapping: the two concepts are equivalent) ICD-11:LD26.4 MeSH:D001176 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109007 Arthrogryposis syndrome Category ORPHA:109007 ICD-11:LD26.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001176 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.2 UMLS:C5681750 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109009 Syndrome with limb malformations as a major feature Category ORPHA:109009 ICD-10:Q87.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681750 E (Exact mapping: the two concepts are equivalent) UMLS:C5681749 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109011 Non-syndromic limb malformation Category ORPHA:109011 UMLS:C5681749 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mayer-Rokitansky-Küster-Hauser syndrome type 2 OMIM:267400 UMLS:C1849432 Renal-genital-middle ear anomalies ORPHA:1092 OMIM:267400 E (Exact mapping: the two concepts are equivalent) UMLS:C1849432 E (Exact mapping: the two concepts are equivalent) Teebi-Kaurah syndrome A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. Orphanet ICD-10:Q87.8 MeSH:C536948 OMIM:607214 UMLS:C2931373 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1094 Anonychia-microcephaly syndrome ORPHA:1094 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536948 E (Exact mapping: the two concepts are equivalent) OMIM:607214 E (Exact mapping: the two concepts are equivalent) UMLS:C2931373 E (Exact mapping: the two concepts are equivalent) 49,XXXXX syndrome Penta-X Poly-X Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). Orphanet ICD-10:Q97.1 ICD-11:LD50.Y MeSH:C535319 UMLS:C2937419 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=11 Pentasomy X syndrome ORPHA:11 ICD-10:Q97.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535319 E (Exact mapping: the two concepts are equivalent) UMLS:C2937419 E (Exact mapping: the two concepts are equivalent) BBS A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations. Orphanet ICD-10:Q87.8 ICD-11:5A61.0 MeSH:D020788 MedDRA:10056715 OMIM:209900 OMIM:600151 OMIM:605231 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615985 OMIM:615986 OMIM:615987 OMIM:615988 OMIM:615989 OMIM:615990 OMIM:615991 OMIM:615992 OMIM:615993 OMIM:615994 OMIM:615995 OMIM:615996 OMIM:617119 OMIM:617406 UMLS:C0752166 Autosomal recessive Oligogenic Antenatal Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Tunisia AND has_point_prevalence_average_value : 0.64 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=110 Bardet-Biedl syndrome ORPHA:110 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020788 E (Exact mapping: the two concepts are equivalent) MedDRA:10056715 E (Exact mapping: the two concepts are equivalent) OMIM:209900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600151 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605231 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615981 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615982 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615983 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615984 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615985 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615986 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615987 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615988 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615989 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615991 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615992 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615993 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615994 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615995 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615996 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617119 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617406 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0752166 E (Exact mapping: the two concepts are equivalent) Cassia Stocco dos Santos syndrome A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 UMLS:C4304035 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome ORPHA:1101 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304035 E (Exact mapping: the two concepts are equivalent) 14q22 microdeletion syndrome Al Frayh-Facharzt-Haque syndrome Monosomy 14q22 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum Anophthalmia-hypothalamo-pituitary insufficiency syndrome ORPHA:1102 Fryns microphthalmia syndrome Microphthalmia with facial clefting A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Orphanet ICD-10:Q87.8 ICD-11:LD21.0 MeSH:C537767 OMIM:600776 UMLS:C1833339 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1104 Anophthalmia plus syndrome ORPHA:1104 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537767 E (Exact mapping: the two concepts are equivalent) OMIM:600776 E (Exact mapping: the two concepts are equivalent) UMLS:C1833339 E (Exact mapping: the two concepts are equivalent) Anophthalmia-syndactyly syndrome OAS Ophthalmoacromelic syndrome Waardenburg anophthalmia syndrome A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. Orphanet ICD-10:Q87.2 ICD-11:LD21.0 MeSH:C537769 OMIM:206920 UMLS:C0599973 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 35.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1106 Microphthalmia with limb anomalies ORPHA:1106 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537769 E (Exact mapping: the two concepts are equivalent) OMIM:206920 E (Exact mapping: the two concepts are equivalent) UMLS:C0599973 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathy-neutropenia syndrome MGA2 X-linked cardioskeletal myopathy and neutropenia Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:D056889 MedDRA:10078537 OMIM:302060 UMLS:C0574083 X-linked recessive Childhood Europe AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=111 Barth syndrome ORPHA:111 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056889 E (Exact mapping: the two concepts are equivalent) MedDRA:10078537 E (Exact mapping: the two concepts are equivalent) OMIM:302060 E (Exact mapping: the two concepts are equivalent) UMLS:C0574083 E (Exact mapping: the two concepts are equivalent) A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. Orphanet ICD-10:Q87.8 MeSH:C537785 OMIM:107500 UMLS:C4706520 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537785 E (Exact mapping: the two concepts are equivalent) OMIM:107500 E (Exact mapping: the two concepts are equivalent) UMLS:C4706520 E (Exact mapping: the two concepts are equivalent) Johnson-Munson syndrome An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q87.8 MeSH:C535881 OMIM:207620 UMLS:C1859754 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535881 E (Exact mapping: the two concepts are equivalent) OMIM:207620 E (Exact mapping: the two concepts are equivalent) UMLS:C1859754 E (Exact mapping: the two concepts are equivalent) An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Orphanet ICD-10:Q87.2 OMIM:600384 UMLS:C4304033 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1113 Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:600384 E (Exact mapping: the two concepts are equivalent) UMLS:C4304033 E (Exact mapping: the two concepts are equivalent) A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies. Orphanet ICD-10:Q84.8 ICD-11:LC60 MedDRA:10002963 OMIM:107600 OMIM:600360 UMLS:C0282160 Autosomal dominant Autosomal recessive Not applicable Antenatal Neonatal Denmark AND has_birth_prevalence_average_value : 7.69 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1114 Aplasia cutis congenita ORPHA:1114 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002963 E (Exact mapping: the two concepts are equivalent) OMIM:107600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600360 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0282160 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Aplasia cutis congenita OBSOLETE: Recessive aplasia cutis congenita of limbs ORPHA:1115 Bronspiegel-Zelnick syndrome An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q84.8 ICD-11:LD27.Y MeSH:C537788 OMIM:207731 UMLS:C4304031 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537788 E (Exact mapping: the two concepts are equivalent) OMIM:207731 E (Exact mapping: the two concepts are equivalent) UMLS:C4304031 E (Exact mapping: the two concepts are equivalent) Gershoni-Baruch-Leibo syndrome A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. Orphanet ICD-10:Q84.8 ICD-11:LD27.Y OMIM:601075 UMLS:C4304032 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1117 Aplasia cutis-myopia syndrome ORPHA:1117 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601075 E (Exact mapping: the two concepts are equivalent) UMLS:C4304032 E (Exact mapping: the two concepts are equivalent) A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Orphanet ICD-10:Q73.8 ICD-11:LD26.0 MeSH:C537930 OMIM:113310 UMLS:C4303759 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1118 Fibular aplasia-ectrodactyly syndrome ORPHA:1118 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537930 E (Exact mapping: the two concepts are equivalent) OMIM:113310 E (Exact mapping: the two concepts are equivalent) UMLS:C4303759 E (Exact mapping: the two concepts are equivalent) Renal tubular normotensive hypokalemic alkalosis with hypercalciuria Salt-losing tubular disorder, Henle's loop type Salt-wasting tubulopathy, Henle's loop type Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Orphanet ICD-10:E26.8 ICD-11:GB90.43 MeSH:D001477 MedDRA:10050839 OMIM:241200 OMIM:300971 OMIM:601198 OMIM:601678 OMIM:602522 OMIM:607364 OMIM:613090 UMLS:C0004775 Autosomal dominant Autosomal recessive X-linked recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Kuwait AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=112 Bartter syndrome ORPHA:112 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:GB90.43 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001477 E (Exact mapping: the two concepts are equivalent) MedDRA:10050839 E (Exact mapping: the two concepts are equivalent) OMIM:241200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300971 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601198 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:601678 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602522 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607364 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613090 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0004775 E (Exact mapping: the two concepts are equivalent) Mardini-Nyhan syndrome A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. Orphanet ICD-10:Q87.8 OMIM:601612 UMLS:C4302918 Antenatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1120 Lung agenesis-heart defect-thumb anomalies syndrome ORPHA:1120 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601612 E (Exact mapping: the two concepts are equivalent) UMLS:C4302918 E (Exact mapping: the two concepts are equivalent) Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q73.8 UMLS:C5190823 Antenatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1121 Radial deficiency-tibial hypoplasia syndrome ORPHA:1121 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190823 E (Exact mapping: the two concepts are equivalent) Ulnar hypoplasia-lobster-claw deformity of feet syndrome Van den Berghe-Dequecker syndrome A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q73.8 MeSH:C536936 OMIM:314360 UMLS:C4518553 Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1122 Ulnar hypoplasia-split foot syndrome ORPHA:1122 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536936 E (Exact mapping: the two concepts are equivalent) OMIM:314360 E (Exact mapping: the two concepts are equivalent) UMLS:C4518553 E (Exact mapping: the two concepts are equivalent) Caudal appendage-hearing loss syndrome Lynch-Lee-Murday syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by caudal appendage, short terminal phalanges and deafness. Additional clinical features may include short stature, intellectual disability, facial dysmorphism and cryptorchidism. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C537713 UMLS:C2931593 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1123 Caudal appendage-deafness syndrome ORPHA:1123 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537713 E (Exact mapping: the two concepts are equivalent) UMLS:C2931593 E (Exact mapping: the two concepts are equivalent) Oculomotor apraxia, Cogan type Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the <i>NPHP1</i> gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. Orphanet ICD-10:H51.8 ICD-11:9C82.4 MeSH:C537423 OMIM:257550 UMLS:C0543874 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1125 Ocular motor apraxia, Cogan type ORPHA:1125 ICD-10:H51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9C82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537423 E (Exact mapping: the two concepts are equivalent) OMIM:257550 E (Exact mapping: the two concepts are equivalent) UMLS:C0543874 E (Exact mapping: the two concepts are equivalent) A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. Orphanet ICD-10:Q04.3 ICD-11:LA05.Y MeSH:C563331 OMIM:601374 UMLS:C1832412 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1126 Aprosencephaly cerebellar dysgenesis ORPHA:1126 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563331 E (Exact mapping: the two concepts are equivalent) OMIM:601374 E (Exact mapping: the two concepts are equivalent) UMLS:C1832412 E (Exact mapping: the two concepts are equivalent) Kosztolanyi syndrome A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. Orphanet ICD-10:Q87.8 MeSH:C537024 UMLS:C2931398 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537024 E (Exact mapping: the two concepts are equivalent) UMLS:C2931398 E (Exact mapping: the two concepts are equivalent) BDCS Follicular atrophoderma and basal cell carcinomas Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Orphanet ICD-10:L98.8 ICD-11:LD27.5 MeSH:C537663 OMIM:301845 UMLS:C0346104 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 143.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=113 Bazex-Dupré-Christol syndrome ORPHA:113 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537663 E (Exact mapping: the two concepts are equivalent) OMIM:301845 E (Exact mapping: the two concepts are equivalent) UMLS:C0346104 E (Exact mapping: the two concepts are equivalent) De Die-Smulders-Vles-Fryns syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.8 UMLS:C4304030 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1130 Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304030 E (Exact mapping: the two concepts are equivalent) Mandibulofacial dysostosis, Toriello type X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MeSH:C537102 OMIM:301950 UMLS:C1844918 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1131 X-linked mandibulofacial dysostosis ORPHA:1131 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537102 E (Exact mapping: the two concepts are equivalent) OMIM:301950 E (Exact mapping: the two concepts are equivalent) UMLS:C1844918 E (Exact mapping: the two concepts are equivalent) UMLS:C5680872 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1132 Aortic arch defects Category ORPHA:1132 UMLS:C5680872 E (Exact mapping: the two concepts are equivalent) Acrorenal defect-ectodermal dysplasia-diabetes syndrome A rare genetic ectodermal dysplasia syndrome characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C537427 OMIM:207780 UMLS:C0342280 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1133 AREDYLD syndrome ORPHA:1133 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537427 E (Exact mapping: the two concepts are equivalent) OMIM:207780 E (Exact mapping: the two concepts are equivalent) UMLS:C0342280 E (Exact mapping: the two concepts are equivalent) Isolated nose agenesis An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. Orphanet ICD-10:Q30.1 ICD-11:LA70.0 MeSH:C537438 UMLS:C0265740 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1134 Isolated arrhinia ORPHA:1134 ICD-10:Q30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537438 E (Exact mapping: the two concepts are equivalent) UMLS:C0265740 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome UMLS:C1863878 Arrhinia-choanal atresia-microphthalmia syndrome ORPHA:1135 UMLS:C1863878 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Arnold-Chiari malformation type 2 OBSOLETE: Chiari malformation type 2 OBSOLETE: Chiari malformation type II This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism with a myelomeningocele OBSOLETE: Arnold-Chiari malformation type II ORPHA:1136 OBSOLETE: Kashani-Strom-Utley syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Pulmonary aortic stenosis obstructive uropathy ORPHA:1137 ICD-11:LA8B.1 UMLS:C0265912 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1138 Abnormal origin of the pulmonary artery Clinical group ORPHA:1138 ICD-11:LA8B.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265912 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic cerebral malformation due to abnormal neuronal migration OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome ORPHA:1139 A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967. Orphanet ICD-10:Q87.5 ICD-11:LD24.E MeSH:C538271 OMIM:109000 UMLS:C1862381 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=114 Auriculoosteodysplasia ORPHA:114 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538271 E (Exact mapping: the two concepts are equivalent) OMIM:109000 E (Exact mapping: the two concepts are equivalent) UMLS:C1862381 E (Exact mapping: the two concepts are equivalent) A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. Orphanet ICD-10:Q74.3 ICD-11:LD26.41 MeSH:C536614 OMIM:208100 UMLS:C1859721 Autosomal recessive Neonatal Europe AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1143 Neurogenic arthrogryposis multiplex congenita ORPHA:1143 ICD-10:Q74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536614 E (Exact mapping: the two concepts are equivalent) OMIM:208100 E (Exact mapping: the two concepts are equivalent) UMLS:C1859721 E (Exact mapping: the two concepts are equivalent) Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome Distal arthrogryposis type 6 A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C535386 OMIM:108200 UMLS:C1862471 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535386 E (Exact mapping: the two concepts are equivalent) OMIM:108200 E (Exact mapping: the two concepts are equivalent) UMLS:C1862471 E (Exact mapping: the two concepts are equivalent) SMAX2 Spinal muscular atrophy with arthrogryposis X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements <i>in utero</i> and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Orphanet ICD-10:G12.1 ICD-11:8B61.Y MeSH:C535380 OMIM:301830 UMLS:C1844934 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 14.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1145 Infantile-onset X-linked spinal muscular atrophy ORPHA:1145 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535380 E (Exact mapping: the two concepts are equivalent) OMIM:301830 E (Exact mapping: the two concepts are equivalent) UMLS:C1844934 E (Exact mapping: the two concepts are equivalent) DA1 Digitotalar dysmorphism A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C535378 OMIM:108120 OMIM:126050 OMIM:614335 OMIM:618435 OMIM:619110 UMLS:C0220662 Autosomal dominant Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1146 Distal arthrogryposis type 1 ORPHA:1146 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535378 E (Exact mapping: the two concepts are equivalent) OMIM:108120 E (Exact mapping: the two concepts are equivalent) OMIM:126050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614335 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619110 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220662 E (Exact mapping: the two concepts are equivalent) DA2B Distal arthrogryposis multiplex congenita type 2B Distal arthrogryposis type 2B Freeman-Sheldon syndrome variant SSH A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C538400 OMIM:601680 OMIM:616266 OMIM:618435 UMLS:C1834523 Autosomal dominant Not applicable Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1147 Sheldon-Hall syndrome ORPHA:1147 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538400 E (Exact mapping: the two concepts are equivalent) OMIM:601680 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616266 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618435 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1834523 E (Exact mapping: the two concepts are equivalent) Arthrogryposis-like syndrome Kuskokwim disease A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. Orphanet ICD-10:Q87.2 MeSH:C538124 OMIM:259450 UMLS:C1859709 Autosomal recessive Childhood Neonatal Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1149 Kuskokwim syndrome ORPHA:1149 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538124 E (Exact mapping: the two concepts are equivalent) OMIM:259450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1859709 E (Exact mapping: the two concepts are equivalent) Beals syndrome Beals-Hecht syndrome CCA syndrome Distal arthrogryposis type 9 A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Orphanet ICD-10:Q68.8 ICD-11:LD28.00 MeSH:C536211 OMIM:121050 UMLS:C0220668 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=115 Congenital contractural arachnodactyly ORPHA:115 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536211 E (Exact mapping: the two concepts are equivalent) OMIM:121050 E (Exact mapping: the two concepts are equivalent) UMLS:C0220668 E (Exact mapping: the two concepts are equivalent) Illum syndrome An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. Orphanet ICD-10:Q87.8 ICD-11:LD26.41 MeSH:C538401 OMIM:208155 UMLS:C1859711 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1150 Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538401 E (Exact mapping: the two concepts are equivalent) OMIM:208155 E (Exact mapping: the two concepts are equivalent) UMLS:C1859711 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrogryposis multiplex congenita OBSOLETE: Transient neonatal arthrogryposis ORPHA:1153 Distal arthrogryposis type 5 Distal arthrogryposis type IIB Distal arthrogryposis with ophthalmoplegia Oculomelic amyoplasia An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C537737 OMIM:108145 UMLS:C1862472 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome ORPHA:1154 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537737 E (Exact mapping: the two concepts are equivalent) OMIM:108145 E (Exact mapping: the two concepts are equivalent) UMLS:C1862472 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrogryposis multiplex congenita OBSOLETE: Arthrogryposis due to muscular dystrophy ORPHA:1155 PPD Progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome A rare spondyloepiphyseal dysplasia (SED) characterized by an association with progressive arthropathy. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535387 OMIM:208230 UMLS:C0432215 Autosomal recessive Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1159 Progressive pseudorheumatoid dysplasia ORPHA:1159 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535387 E (Exact mapping: the two concepts are equivalent) OMIM:208230 E (Exact mapping: the two concepts are equivalent) UMLS:C0432215 E (Exact mapping: the two concepts are equivalent) BWS Exomphalos-macroglossia-gigantism syndrome Wiedemann-Beckwith syndrome Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:D001506 MedDRA:10050344 OMIM:130650 UMLS:C0004903 Autosomal dominant Unknown Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Jamaica AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 5.25 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=116 Beckwith-Wiedemann syndrome ORPHA:116 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D001506 E (Exact mapping: the two concepts are equivalent) MedDRA:10050344 E (Exact mapping: the two concepts are equivalent) OMIM:130650 E (Exact mapping: the two concepts are equivalent) UMLS:C0004903 E (Exact mapping: the two concepts are equivalent) Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. Orphanet ICD-10:I89.8 ICD-11:DC51.0 MeSH:D002915 MedDRA:10003446 OMIM:208300 UMLS:C0008732 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1160 Chylous ascites ORPHA:1160 ICD-10:I89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:DC51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002915 E (Exact mapping: the two concepts are equivalent) MedDRA:10003446 E (Exact mapping: the two concepts are equivalent) OMIM:208300 E (Exact mapping: the two concepts are equivalent) UMLS:C0008732 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:F84.5 NON RARE IN EUROPE: Asperger syndrome ORPHA:1162 ICD-10:F84.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar. Orphanet ICD-10:B44.0 ICD-10:B44.1 ICD-10:B44.2 ICD-10:B44.7 ICD-10:B44.8 ICD-10:B44.9 ICD-11:1F20 ICD-11:1F20.0 ICD-11:1F20.1 MeSH:D001228 MedDRA:10003488 OMIM:614079 UMLS:C0004030 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1163 Aspergillosis ORPHA:1163 ICD-10:B44.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F20.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F20.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001228 E (Exact mapping: the two concepts are equivalent) MedDRA:10003488 E (Exact mapping: the two concepts are equivalent) OMIM:614079 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0004030 E (Exact mapping: the two concepts are equivalent) ABPA Allergic aspergillosis Hinson-Pepys disease A rare immunologic pulmonary disorder caused by hypersensitivity to <i>Aspergillus fumigatus</i>, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. Orphanet ICD-10:B44.1+ ICD-10:J99.8* ICD-11:CA82.4 MeSH:D001229 MedDRA:10006474 OMIM:103920 UMLS:C0004031 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1164 Allergic bronchopulmonary aspergillosis ORPHA:1164 ICD-10:B44.1+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:J99.8* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D001229 E (Exact mapping: the two concepts are equivalent) MedDRA:10006474 E (Exact mapping: the two concepts are equivalent) OMIM:103920 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0004031 E (Exact mapping: the two concepts are equivalent) Isolated asymmetric crying facies A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. Orphanet ICD-10:Q87.0 MeSH:C535349 UMLS:C0431406 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1166 Congenital unilateral hypoplasia of depressor anguli oris ORPHA:1166 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535349 E (Exact mapping: the two concepts are equivalent) UMLS:C0431406 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial partial epilepsy OBSOLETE: Facial asymmetry-temporal seizures syndrome ORPHA:1167 AOA1 A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Orphanet ICD-10:G11.3 ICD-11:5C53.22 MeSH:C538013 OMIM:208920 UMLS:C1859598 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1168 Ataxia-oculomotor apraxia type 1 ORPHA:1168 ICD-10:G11.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538013 E (Exact mapping: the two concepts are equivalent) OMIM:208920 E (Exact mapping: the two concepts are equivalent) UMLS:C1859598 E (Exact mapping: the two concepts are equivalent) A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. Orphanet ICD-10:M35.2 ICD-11:4A62 MeSH:D001528 MedDRA:10004213 OMIM:109650 UMLS:C0004943 Multigenic/multifactorial Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000 Israel AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_annual_incidence_average_value : 1.51 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 225.0 AND has_point_prevalence_range : >1 / 1000 United Kingdom AND has_point_prevalence_average_value : 11.1 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=117 Behçet disease ORPHA:117 ICD-10:M35.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001528 E (Exact mapping: the two concepts are equivalent) MedDRA:10004213 E (Exact mapping: the two concepts are equivalent) OMIM:109650 E (Exact mapping: the two concepts are equivalent) UMLS:C0004943 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 2 SCAR2 A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. Orphanet ICD-10:G11.0 MeSH:C565865 OMIM:213200 UMLS:C1859298 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1170 Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565865 E (Exact mapping: the two concepts are equivalent) OMIM:213200 E (Exact mapping: the two concepts are equivalent) UMLS:C1859298 E (Exact mapping: the two concepts are equivalent) CAPOS syndrome Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. Orphanet ICD-10:G11.1 MeSH:C535351 OMIM:601338 UMLS:C1832466 Autosomal dominant Mitochondrial inheritance Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535351 E (Exact mapping: the two concepts are equivalent) OMIM:601338 E (Exact mapping: the two concepts are equivalent) UMLS:C1832466 E (Exact mapping: the two concepts are equivalent) ARCA A group of rare early-onset ataxias with dementia characterized by degeneration or abnormal development of the cerebellum and spinal cord. It is a heterogeneous group including disorders that involves both the central and peripheral nervous system (and in some cases other systems and organs), therefore besides ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. It comprises more than half of the known genetic forms of ataxia including congenital ataxias, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias and ataxias associated with other features. Orphanet UMLS:C5575375 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1172 Autosomal recessive cerebellar ataxia Category ORPHA:1172 UMLS:C5575375 E (Exact mapping: the two concepts are equivalent) Gordon-Holmes syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term). Orphanet ICD-10:G11.8 MeSH:C565870 OMIM:212840 OMIM:605672 UMLS:C1859305 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1173 Cerebellar ataxia-hypogonadism syndrome ORPHA:1173 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565870 E (Exact mapping: the two concepts are equivalent) OMIM:212840 E (Exact mapping: the two concepts are equivalent) OMIM:605672 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1859305 E (Exact mapping: the two concepts are equivalent) A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Orphanet ICD-10:G11.1 ICD-11:LD27.0Y MeSH:C535350 OMIM:212835 UMLS:C1859306 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1174 Cerebellar ataxia-ectodermal dysplasia syndrome ORPHA:1174 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535350 E (Exact mapping: the two concepts are equivalent) OMIM:212835 E (Exact mapping: the two concepts are equivalent) UMLS:C1859306 E (Exact mapping: the two concepts are equivalent) A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y OMIM:302500 OMIM:302800 UMLS:C5231313 X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1175 X-linked progressive cerebellar ataxia ORPHA:1175 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:302500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:302800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5231313 E (Exact mapping: the two concepts are equivalent) UMLS:C5681751 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=117569 Rare intestinal disease Category ORPHA:117569 UMLS:C5681751 E (Exact mapping: the two concepts are equivalent) UMLS:C5681738 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=117573 Syndromic anorectal malformation Category ORPHA:117573 UMLS:C5681738 E (Exact mapping: the two concepts are equivalent) Xq26.2 CENP-31 KIAA1823 MGC14797 centromere protein 31 ClinVar:PHF6 Ensembl:ENSG00000156531 Genatlas:PHF6 HGNC:18145 OMIM:300414 SwissProt:Q8IWS0 PHF6 PHD finger protein 6 17q25.3 AF17q25 KIAA0991 MSF1 Ov/Br septin PNUTL4 SeptD1 peanut-like 4 (Drosophila) ClinVar:SEPTIN9 Ensembl:ENSG00000184640 Genatlas:SEPT9 HGNC:7323 OMIM:604061 SwissProt:Q9UHD8 SEPTIN9 septin 9 12q13.13 Allgrove, triple-A adracalin aladin ClinVar:AAAS Ensembl:ENSG00000094914 Genatlas:AAAS HGNC:13666 OMIM:605378 Reactome:Q9NRG9 SwissProt:Q9NRG9 AAAS aladin WD repeat nucleoporin 16p13.2 4-aminobutyrate transaminase GABA transaminase GABA-T GABAT gamma-aminobutyrate aminotransferase ClinVar:ABAT Ensembl:ENSG00000183044 Genatlas:ABAT HGNC:23 IUPHAR:2464 OMIM:137150 Reactome:P80404 SwissProt:P80404 ABAT 4-aminobutyrate aminotransferase 2q35 DKFZP434G232 LI2 ClinVar:ABCA12 Ensembl:ENSG00000144452 Genatlas:ABCA12 HGNC:14637 IUPHAR:766 OMIM:607800 Reactome:Q86UK0 SwissProt:Q86UK0 ABCA12 ATP binding cassette subfamily A member 12 1p22.1 ARMD2 CORD3 FFM Stargardt disease ClinVar:ABCA4 Ensembl:ENSG00000198691 Genatlas:ABCA4 HGNC:34 IUPHAR:759 OMIM:601691 Reactome:P78363 SwissProt:P78363 ABCA4 ATP binding cassette subfamily A member 4 2q31.1 ABC member 16, MDR/TAP subfamily ABC16 PFIC-2 PGY4 SPGP ClinVar:ABCB11 Ensembl:ENSG00000073734 Genatlas:ABCB11 HGNC:42 IUPHAR:778 OMIM:603201 Reactome:O95342 SwissProt:O95342 ABCB11 ATP binding cassette subfamily B member 11 7q21.12 GBD1 MDR2 PFIC-3 ClinVar:ABCB4 Ensembl:ENSG00000005471 Genatlas:ABCB4 HGNC:45 IUPHAR:771 OMIM:171060 Reactome:P21439 SwissProt:P21439 ABCB4 ATP binding cassette subfamily B member 4 Xq13.3 ASAT Atm1p EST140535 ClinVar:ABCB7 Ensembl:ENSG00000131269 Genatlas:ABCB7 HGNC:48 IUPHAR:774 OMIM:300135 Reactome:O75027 SwissProt:O75027 ABCB7 ATP binding cassette subfamily B member 7 10q24.2 DJS MRP2 cMRP ClinVar:ABCC2 Ensembl:ENSG00000023839 Genatlas:ABCC2 HGNC:53 IUPHAR:780 OMIM:601107 Reactome:Q92887 SwissProt:Q92887 ABCC2 ATP binding cassette subfamily C member 2 16p13.11 EST349056 MLP1 MRP6 URG7 ClinVar:ABCC6 Ensembl:ENSG00000091262 Genatlas:ABCC6 HGNC:57 IUPHAR:784 OMIM:603234 Reactome:O95255 SwissProt:O95255 ABCC6 ATP binding cassette subfamily C member 6 11p15.1 ABC36 HHF1 HI MRP8 PHHI SUR1 TNDM2 sulfonylurea receptor (hyperinsulinemia) ClinVar:ABCC8 Ensembl:ENSG00000006071 Genatlas:ABCC8 HGNC:59 IUPHAR:2594 OMIM:600509 Reactome:Q09428 SwissProt:Q09428 ABCC8 ATP binding cassette subfamily C member 8 12p12.1 CMD1O SUR2 sulfonylurea receptor 2 ClinVar:ABCC9 Ensembl:ENSG00000069431 Genatlas:ABCC9 HGNC:60 IUPHAR:2746 OMIM:601439 Reactome:O60706 SwissProt:O60706 ABCC9 ATP binding cassette subfamily C member 9 Xq28 ALDP AMN adrenoleukodystrophy ClinVar:ABCD1 Ensembl:ENSG00000101986 Genatlas:ABCD1 HGNC:61 IUPHAR:788 OMIM:300371 Reactome:P33897 SwissProt:P33897 ABCD1 ATP binding cassette subfamily D member 1 2p21 STSL sterolin 1 ClinVar:ABCG5 Ensembl:ENSG00000138075 Genatlas:ABCG5 HGNC:13886 IUPHAR:794 OMIM:605459 Reactome:Q9H222 SwissProt:Q9H222 ABCG5 ATP binding cassette subfamily G member 5 2p21 GBD4 gallbladder disease 4 sterolin 2 ClinVar:ABCG8 Ensembl:ENSG00000143921 Genatlas:ABCG8 HGNC:13887 IUPHAR:795 OMIM:605460 Reactome:Q9H221 SwissProt:Q9H221 ABCG8 ATP binding cassette subfamily G member 8 3p21.33 CGI-58 NCIE2 ClinVar:ABHD5 Ensembl:ENSG00000011198 Genatlas:ABHD5 HGNC:21396 OMIM:604780 Reactome:Q8WTS1 SwissProt:Q8WTS1 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase 9q34.12 JTK7 c-ABL p150 ClinVar:ABL1 Ensembl:ENSG00000097007 Genatlas:ABL1 HGNC:76 IUPHAR:1923 OMIM:189980 Reactome:P00519 SwissProt:P00519 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase EOCA EOCARR Harding ataxia Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MeSH:C535633 OMIM:212895 UMLS:C0393520 Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 2.08 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1177 Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535633 E (Exact mapping: the two concepts are equivalent) OMIM:212895 E (Exact mapping: the two concepts are equivalent) UMLS:C0393520 E (Exact mapping: the two concepts are equivalent) 1p31.1 ACAD1 MCAD MCADH medium-chain acyl-CoA dehydrogenase ClinVar:ACADM Ensembl:ENSG00000117054 Genatlas:ACADM HGNC:89 OMIM:607008 Reactome:P11310 SwissProt:P11310 ACADM acyl-CoA dehydrogenase medium chain 12q24.31 ACAD3 SCAD ClinVar:ACADS Ensembl:ENSG00000122971 Genatlas:ACADS HGNC:90 OMIM:606885 Reactome:P16219 SwissProt:P16219 ACADS acyl-CoA dehydrogenase short chain 10q26.13 ACAD7 SBCAD ClinVar:ACADSB Ensembl:ENSG00000196177 Genatlas:ACADSB HGNC:91 OMIM:600301 Reactome:P45954 SwissProt:P45954 ACADSB acyl-CoA dehydrogenase short/branched chain 17p13.1 ACAD6 LCACD VLCAD ClinVar:ACADVL Ensembl:ENSG00000072778 Genatlas:ACADVL HGNC:92 OMIM:609575 Reactome:P49748 SwissProt:P49748 ACADVL acyl-CoA dehydrogenase very long chain 15q26.1 CSPGCP aggrecan proteoglycan ClinVar:ACAN Ensembl:ENSG00000157766 Genatlas:ACAN HGNC:319 OMIM:155760 Reactome:P16112 SwissProt:P16112 ACAN aggrecan 11q22.3 THIL acetoacetyl Coenzyme A thiolase ClinVar:ACAT1 Ensembl:ENSG00000075239 Genatlas:ACAT1 HGNC:93 IUPHAR:2435 OMIM:607809 Reactome:P24752 SwissProt:P24752 ACAT1 acetyl-CoA acetyltransferase 1 17q23.3 ACE1 CD143 peptidyl-dipeptidase A ClinVar:ACE Ensembl:ENSG00000159640 Genatlas:ACE HGNC:2707 IUPHAR:1613 OMIM:106180 Reactome:P12821 SwissProt:P12821 ACE angiotensin I converting enzyme 17q25.1 PALMCOX palmitoyl-CoA oxidase ClinVar:ACOX1 Ensembl:ENSG00000161533 Genatlas:ACOX1 HGNC:119 OMIM:609751 Reactome:Q15067 SwissProt:Q15067 ACOX1 acyl-CoA oxidase 1 Xq23 ACS4 LACS4 lignoceroyl-CoA synthase long-chain fatty-acid-Coenzyme A ligase 4 ClinVar:ACSL4 Ensembl:ENSG00000068366 Genatlas:ACSL4 HGNC:3571 OMIM:300157 Reactome:O60488 SwissProt:O60488 ACSL4 acyl-CoA synthetase long chain family member 4 1q42.13 NEM3 nemaline myopathy type 3 ClinVar:ACTA1 Ensembl:ENSG00000143632 Genatlas:ACTA1 HGNC:129 OMIM:102610 Reactome:P68133 SwissProt:P68133 ACTA1 actin alpha 1, skeletal muscle 15q14 CMD1R ClinVar:ACTC1 Ensembl:ENSG00000159251 Genatlas:ACTC1 HGNC:143 OMIM:102540 Reactome:P68032 SwissProt:P68032 ACTC1 actin alpha cardiac muscle 1 19q13.2 ClinVar:ACTN4 Ensembl:ENSG00000130402 Genatlas:ACTN4 HGNC:166 OMIM:604638 Reactome:O43707 SwissProt:O43707 ACTN4 actinin alpha 4 2q24.1 ACVR1A ALK2 SKR1 ClinVar:ACVR1 Ensembl:ENSG00000115170 Genatlas:ACVR1 HGNC:171 IUPHAR:1785 OMIM:102576 SwissProt:Q04771 ACVR1 activin A receptor type 1 12q13.13 ALK1 HHT HHT2 activin receptor-like kinase 1 ClinVar:ACVRL1 Ensembl:ENSG00000139567 Genatlas:ACVRL1 HGNC:175 IUPHAR:1784 OMIM:601284 Reactome:P37023 SwissProt:P37023 ACVRL1 activin A receptor like type 1 20q13.12 ADA1 ClinVar:ADA Ensembl:ENSG00000196839 Genatlas:ADA HGNC:186 IUPHAR:1230 OMIM:608958 Reactome:P00813 SwissProt:P00813 ADA adenosine deaminase 19p13.2 ADAM-TS10 ClinVar:ADAMTS10 Ensembl:ENSG00000142303 Genatlas:ADAMTS10 HGNC:13201 IUPHAR:1683 OMIM:608990 Reactome:Q9H324 SwissProt:Q9H324 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 9q34.2 DKFZp434C2322 FLJ42993 MGC118899 MGC118900 TTP VWFCP vWF-CP ClinVar:ADAMTS13 Ensembl:ENSG00000160323 Genatlas:ADAMTS13 HGNC:1366 IUPHAR:1685 OMIM:604134 Reactome:Q76LX8 SwissProt:Q76LX8 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 5q35.3 ADAM-TS2 ADAMTS-3 NPI PCINP hPCPNI procollagen I N-proteinase procollagen N-endopeptidase ClinVar:ADAMTS2 Ensembl:ENSG00000087116 Genatlas:ADAMTS2 HGNC:218 IUPHAR:1675 OMIM:604539 Reactome:O95450 SwissProt:O95450 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 1p12 D-3-phosphoglycerate dehydrogenase PDG PGDH SERA ClinVar:PHGDH Ensembl:ENSG00000092621 Genatlas:PHGDH HGNC:8923 OMIM:606879 Reactome:O43175 SwissProt:O43175 PHGDH phosphoglycerate dehydrogenase Xq13.1 ClinVar:PHKA1 Ensembl:ENSG00000067177 Genatlas:PHKA1 HGNC:8925 OMIM:311870 Reactome:P46020 SwissProt:P46020 PHKA1 phosphorylase kinase regulatory subunit alpha 1 Xp22.13 ClinVar:PHKA2 Ensembl:ENSG00000044446 Genatlas:PHKA2 HGNC:8926 OMIM:300798 Reactome:P46019 SwissProt:P46019 PHKA2 phosphorylase kinase regulatory subunit alpha 2 16q12.1 ClinVar:PHKB Ensembl:ENSG00000102893 Genatlas:PHKB HGNC:8927 OMIM:172490 Reactome:Q93100 SwissProt:Q93100 PHKB phosphorylase kinase regulatory subunit beta 11q13.4 CFEOM2 PMX2A ClinVar:PHOX2A Ensembl:ENSG00000165462 Genatlas:PHOX2A HGNC:691 OMIM:602753 SwissProt:O14813 PHOX2A paired like homeobox 2A A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. Orphanet ICD-10:G11.1 OMIM:272600 UMLS:C5190865 Unknown Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1178 Ataxia-tapetoretinal degeneration syndrome ORPHA:1178 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:272600 E (Exact mapping: the two concepts are equivalent) UMLS:C5190865 E (Exact mapping: the two concepts are equivalent) 4p13 NBPhox Phox2b ClinVar:PHOX2B Ensembl:ENSG00000109132 Genatlas:PHOX2B HGNC:9143 OMIM:603851 SwissProt:Q99453 PHOX2B paired like homeobox 2B 10p13 PAHX PHYH1 RD Refsum disease phytanoyl-CoA dioxygenase ClinVar:PHYH Ensembl:ENSG00000107537 Genatlas:PHYH HGNC:8940 OMIM:602026 Reactome:O14832 SwissProt:O14832 PHYH phytanoyl-CoA 2-hydroxylase 1q23.2 DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase ClinVar:PIGM Ensembl:ENSG00000143315 Genatlas:PIGM HGNC:18858 OMIM:610273 Reactome:Q9H3S5 SwissProt:Q9H3S5 PIGM phosphatidylinositol glycan anchor biosynthesis class M 3q26.32 PI3K ClinVar:PIK3CA Ensembl:ENSG00000121879 Genatlas:PIK3CA HGNC:8975 IUPHAR:2153 OMIM:171834 Reactome:P42336 SwissProt:P42336 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 1p36.12 BRPK ClinVar:PINK1 Ensembl:ENSG00000158828 Genatlas:PINK1 HGNC:14581 IUPHAR:2161 OMIM:608309 Reactome:Q9BXM7 SwissProt:Q9BXM7 PINK1 PTEN induced kinase 1 2q34 FAB1 KIAA0981 MGC40423 PIKfyve PIP5K ZFYVE29 p235 zinc finger, FYVE domain containing 29 ClinVar:PIKFYVE Ensembl:ENSG00000115020 Genatlas:PIKFYVE HGNC:23785 IUPHAR:2857 OMIM:609414 Reactome:Q9Y2I7 SwissProt:Q9Y2I7 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing 4q25 ARP1 Brx1 IGDS Otlx2 RS ClinVar:PITX2 Ensembl:ENSG00000164093 Genatlas:PITX2 HGNC:9005 OMIM:601542 Reactome:Q99697 SwissProt:Q99697 PITX2 paired like homeodomain 2 10q24.32 ClinVar:PITX3 Ensembl:ENSG00000107859 Genatlas:PITX3 HGNC:9006 OMIM:602669 SwissProt:O75364 PITX3 paired like homeodomain 3 16p13.3 PBP Pc-1 TRPP1 polycystin 1 transient receptor potential cation channel, subfamily P, member 1 ClinVar:PKD1 Ensembl:ENSG00000008710 Genatlas:PKD1 HGNC:9008 OMIM:601313 Reactome:P98161 SwissProt:P98161 PKD1 polycystin 1, transient receptor potential channel interacting 4q22.1 PC2 PKD4 Pc-2 TRPP2 transient receptor potential cation channel, subfamily P, member 2 ClinVar:PKD2 Ensembl:ENSG00000118762 Genatlas:PKD2 HGNC:9009 IUPHAR:504 OMIM:173910 Reactome:Q13563 SwissProt:Q13563 PKD2 polycystin 2, transient receptor potential cation channel 6p12.3-p12.2 ARPKD FCYT FPC fibrocystin fibrocystin/polyductin complex polyductin tigmin ClinVar:PKHD1 Ensembl:ENSG00000170927 Genatlas:PKHD1 HGNC:9016 OMIM:606702 SwissProt:P08F94 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1q22 ClinVar:PKLR Ensembl:ENSG00000143627 Genatlas:PKLR HGNC:9020 IUPHAR:3007 OMIM:609712 Reactome:P30613 SwissProt:P30613 PKLR pyruvate kinase L/R 1q32.1 B6P ectodermal dysplasia/skin fragility syndrome ClinVar:PKP1 Ensembl:ENSG00000081277 Genatlas:PKP1 HGNC:9023 OMIM:601975 Reactome:Q13835 SwissProt:Q13835 PKP1 plakophilin 1 12p11.21 ClinVar:PKP2 Ensembl:ENSG00000057294 Genatlas:PKP2 HGNC:9024 OMIM:602861 Reactome:Q99959 SwissProt:Q99959 PKP2 plakophilin 2 22q13.1 NBIA2 Neurodegeneration with brain iron accumulation 2 PARK14 PNPLA9 iPLA2 iPLA2beta neurodegeneration with brain iron accumulation 2 ClinVar:PLA2G6 Ensembl:ENSG00000184381 Genatlas:PLA2G6 HGNC:9039 IUPHAR:1431 OMIM:603604 Reactome:O60733 SwissProt:O60733 PLA2G6 phospholipase A2 group VI 8q24.3 PCN PLTN ClinVar:PLEC Ensembl:ENSG00000178209 Genatlas:PLEC HGNC:9069 OMIM:601282 Reactome:Q15149 SwissProt:Q15149 PLEC plectin 16q22.1 ARHGEF44 DKFZP434I216 puratrophin-1 ClinVar:PLEKHG4 Ensembl:ENSG00000196155 Genatlas:PLEKHG4 HGNC:24501 OMIM:609526 Reactome:Q58EX7 SwissProt:Q58EX7 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 6q26 ClinVar:PLG Ensembl:ENSG00000122194 Genatlas:PLG HGNC:9071 IUPHAR:2394 OMIM:173350 Reactome:P00747 SwissProt:P00747 PLG plasminogen 1p36.22 LH1 lysyl hydroxlase 1 procollagen lysyl hydroxylase 1 ClinVar:PLOD1 Ensembl:ENSG00000083444 Genatlas:PLOD1 HGNC:9081 OMIM:153454 Reactome:Q02809 SwissProt:Q02809 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 3q24 LH2 TLH lysyl hydroxlase 2 procollagen lysyl hydroxylase 2 procollagen-lysine 5-dioxygenase telopeptidyl lysyl hydroxylase ClinVar:PLOD2 Ensembl:ENSG00000152952 Genatlas:PLOD2 HGNC:9082 OMIM:601865 Reactome:O00469 SwissProt:O00469 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Xq22.2 GPM6C Pelizaeus-Merzbacher disease ClinVar:PLP1 Ensembl:ENSG00000123560 Genatlas:PLP1 HGNC:9086 OMIM:300401 SwissProt:P60201 PLP1 proteolipid protein 1 15q24.1 MYL RNF71 TRIM19 ClinVar:PML Ensembl:ENSG00000140464 Genatlas:PML HGNC:9113 OMIM:102578 Reactome:P29590 SwissProt:P29590 PML PML nuclear body scaffold Ouvrier-Billson syndrome Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. Orphanet ICD-10:G96.8 ICD-11:9C83.11 MeSH:C566817 OMIM:168885 UMLS:C1868576 Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1179 Benign paroxysmal tonic upgaze of childhood with ataxia ORPHA:1179 ICD-10:G96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C83.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566817 E (Exact mapping: the two concepts are equivalent) OMIM:168885 E (Exact mapping: the two concepts are equivalent) UMLS:C1868576 E (Exact mapping: the two concepts are equivalent) 16p13.2 CDG1a CDGS Congenital disorder of glycosylation, type Ia PMI PMI1 mannose-6-phosphate isomerase phosphomannose isomerase 1 ClinVar:PMM2 Ensembl:ENSG00000140650 Genatlas:PMM2 HGNC:9115 OMIM:601785 Reactome:O15305 SwissProt:O15305 PMM2 phosphomannomutase 2 17p12 GAS3 HMSNIA HNPP Sp110 ClinVar:PMP22 Ensembl:ENSG00000109099 Genatlas:PMP22 HGNC:9118 OMIM:601097 Reactome:Q01453 SwissProt:Q01453 PMP22 peripheral myelin protein 22 2q32.2 MLH2 ClinVar:PMS1 Ensembl:ENSG00000064933 Genatlas:PMS1 HGNC:9121 OMIM:600258 SwissProt:P54277 PMS1 PMS1 homolog 1, mismatch repair system component 7p22.1 HNPCC4 H_DJ0042M02.9 MLH4 PMS-2 ClinVar:PMS2 Ensembl:ENSG00000122512 Genatlas:PMS2 HGNC:9122 OMIM:600259 Reactome:P54278 SwissProt:P54278 PMS2 PMS1 homolog 2, mismatch repair system component 15q26.1 POLG1 POLGA ClinVar:POLG Ensembl:ENSG00000140521 Genatlas:POLG HGNC:9179 OMIM:174763 Reactome:P54098 SwissProt:P54098 POLG DNA polymerase gamma, catalytic subunit 17q23.3 HP55 MTPOLB ClinVar:POLG2 Ensembl:ENSG00000256525 Genatlas:POLG2 HGNC:9180 OMIM:604983 Reactome:Q9UHN1 SwissProt:Q9UHN1 POLG2 DNA polymerase gamma 2, accessory subunit 6p21.1 RAD30A XP-V ClinVar:POLH Ensembl:ENSG00000170734 Genatlas:POLH HGNC:9181 OMIM:603968 Reactome:Q9Y253 SwissProt:Q9Y253 POLH DNA polymerase eta 1p34.1 FLJ20277 LGMD2O MGAT1.2 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase ClinVar:POMGNT1 Ensembl:ENSG00000085998 Genatlas:POMGNT1 HGNC:19139 OMIM:606822 Reactome:Q8WZA1 SwissProt:Q8WZA1 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 9q34.13 LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase ClinVar:POMT1 Ensembl:ENSG00000130714 Genatlas:POMT1 HGNC:9202 OMIM:607423 Reactome:Q9Y6A1 SwissProt:Q9Y6A1 POMT1 protein O-mannosyltransferase 1 14q24.3 Dolichyl-phosphate-mannose--protein mannosyltransferase LGMD2N ClinVar:POMT2 Ensembl:ENSG00000009830 Genatlas:POMT2 HGNC:19743 OMIM:607439 Reactome:Q9UKY4 SwissProt:Q9UKY4 POMT2 protein O-mannosyltransferase 2 7q11.23 CYPOR FLJ26468 NADPH--hemoprotein reductase ClinVar:POR Ensembl:ENSG00000127948 Genatlas:POR HGNC:9208 OMIM:124015 Reactome:P16435 SwissProt:P16435 POR cytochrome p450 oxidoreductase 3p11.2 GHF-1 PIT-1 POU1F1a growth hormone factor 1 pituitary transcript factor 1 ClinVar:POU1F1 Ensembl:ENSG00000064835 Genatlas:POU1F1 HGNC:9210 OMIM:173110 SwissProt:P28069 POU1F1 POU class 1 homeobox 1 Xq21.1 BRN4 DFNX2 OTF9 Octamer-binding transcription factor 9 brain-4 ClinVar:POU3F4 Ensembl:ENSG00000196767 Genatlas:POU3F4 HGNC:9217 OMIM:300039 SwissProt:P49335 POU3F4 POU class 3 homeobox 4 5q32 BRN3C ClinVar:POU4F3 Ensembl:ENSG00000091010 Genatlas:POU4F3 HGNC:9220 OMIM:602460 Reactome:Q15319 SwissProt:Q15319 POU4F3 POU class 4 homeobox 3 7p14.1 RPF-1 Retina-derived POU-domain factor-1 ClinVar:POU6F2 Ensembl:ENSG00000106536 Genatlas:POU6F2 HGNC:21694 OMIM:609062 Reactome:P78424 SwissProt:P78424 POU6F2 POU class 6 homeobox 2 3p25.2 NR1C3 PPARG1 PPARG2 PPARgamma ClinVar:PPARG Ensembl:ENSG00000132170 Genatlas:PPARG HGNC:9236 IUPHAR:595 OMIM:601487 Reactome:P37231 SwissProt:P37231 PPARG peroxisome proliferator activated receptor gamma 1q23.3 PPO ClinVar:PPOX Ensembl:ENSG00000143224 Genatlas:PPOX HGNC:9280 OMIM:600923 Reactome:P50336 SwissProt:P50336 PPOX protoporphyrinogen oxidase 5q32 B55beta PP2A subunit B isoform beta PR52B PR55-BETA ClinVar:PPP2R2B Ensembl:ENSG00000156475 Genatlas:PPP2R2B HGNC:9305 OMIM:604325 Reactome:Q00005 SwissProt:Q00005 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta 1p34.2 CLN1 INCL ceroid-lipofuscinosis, neuronal 1, infantile ClinVar:PPT1 Ensembl:ENSG00000131238 Genatlas:PPT1 HGNC:9325 IUPHAR:3199 OMIM:600722 Reactome:P50897 SwissProt:P50897 PPT1 palmitoyl-protein thioesterase 1 Xp11.23 ClinVar:PQBP1 Ensembl:ENSG00000102103 Genatlas:PQBP1 HGNC:9330 OMIM:300463 Reactome:O60828 SwissProt:O60828 PQBP1 polyglutamine binding protein 1 1q23.1 RCCP1 ClinVar:PRCC Ensembl:ENSG00000143294 Genatlas:PRCC HGNC:9343 OMIM:179755 Reactome:Q92733 SwissProt:Q92733 PRCC proline rich mitotic checkpoint control factor 17q25.1 RP36 ClinVar:PRCD Ensembl:ENSG00000214140 Genatlas:PRCD HGNC:32528 OMIM:610598 SwissProt:Q00LT1 PRCD photoreceptor disc component 10q22.1 HPLH2 P1 PFP Perforin perforin 1 (preforming protein) ClinVar:PRF1 Ensembl:ENSG00000180644 Genatlas:PRF1 HGNC:9360 IUPHAR:3100 OMIM:170280 SwissProt:P14222 PRF1 perforin 1 Beta-mannosidase deficiency Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Orphanet ICD-10:E77.1 ICD-11:5C56.21 MeSH:D044905 OMIM:248510 UMLS:C4048196 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Czech Republic AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=118 Beta-mannosidosis ORPHA:118 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D044905 E (Exact mapping: the two concepts are equivalent) OMIM:248510 E (Exact mapping: the two concepts are equivalent) UMLS:C4048196 E (Exact mapping: the two concepts are equivalent) Boucher-Neuhäuser syndrome A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term). Orphanet ICD-10:G11.8 MeSH:C565850 OMIM:215470 UMLS:C1859093 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1180 Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565850 E (Exact mapping: the two concepts are equivalent) OMIM:215470 E (Exact mapping: the two concepts are equivalent) UMLS:C1859093 E (Exact mapping: the two concepts are equivalent) 1q31.1 FLJ32635 HAPO JCAP Jacobs camptodactyly-arthropathy-pericarditis syndrome MSF SZP articular superficial zone protein bG174L6.2 bG174L6.2 (MSF: megakaryocyte stimulating factor ) camptodactyly, arthropathy, coxa vara, pericarditis syndrome lubricin megakaryocyte stimulating factor ClinVar:PRG4 Ensembl:ENSG00000116690 Genatlas:PRG4 HGNC:9364 OMIM:604283 SwissProt:Q92954 PRG4 proteoglycan 4 7q36.1 AAKG AAKG2 AMPK gamma2 CMH6 H91620p WPWS ClinVar:PRKAG2 Ensembl:ENSG00000106617 Genatlas:PRKAG2 HGNC:9386 IUPHAR:1546 OMIM:602743 Reactome:Q9UGJ0 SwissProt:Q9UGJ0 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 17q24.2 CNC1 Carney complex type 1 ClinVar:PRKAR1A Ensembl:ENSG00000108946 Genatlas:PRKAR1A HGNC:9388 IUPHAR:1472 OMIM:188830 Reactome:P10644 SwissProt:P10644 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha 19q13.42 MGC57564 PKC-gamma PKC? PKCC ClinVar:PRKCG Ensembl:ENSG00000126583 Genatlas:PRKCG HGNC:9402 IUPHAR:1484 OMIM:176980 Reactome:P05129 SwissProt:P05129 PRKCG protein kinase C gamma 19p13.2 80K-H AGE-R2 GIIB GIIbeta GluIIbeta PKCSH VASAP-60 advanced glycation end-product receptor 2 glucosidase 2 subunit beta glucosidase II beta subunit hepatocystin ClinVar:PRKCSH Ensembl:ENSG00000130175 Genatlas:PRKCSH HGNC:9411 OMIM:177060 Reactome:P14314 SwissProt:P14314 PRKCSH PRKCSH beta subunit of glucosidase II 20p13 AltPrP CD230 Creutzfeldt-Jakob disease Gerstmann-Strausler-Scheinker syndrome PRP fatal familial insomnia p27-30 ClinVar:PRNP Ensembl:ENSG00000171867 Genatlas:PRNP HGNC:9449 OMIM:176640 Reactome:P04156 SwissProt:P04156 PRNP prion protein (Kanno blood group) 2q14.3 coagulation factor XIV prepro-protein C ClinVar:PROC Ensembl:ENSG00000115718 Genatlas:PROC HGNC:9451 IUPHAR:2396 OMIM:612283 Reactome:P04070 SwissProt:P04070 PROC protein C, inactivator of coagulation factors Va and VIIIa 22q11.21 HSPOX2 PIG6 POX PRODH1 PRODH2 TP53I6 p53 Inducible gene 6 proline oxidase ClinVar:PRODH Ensembl:ENSG00000100033 Genatlas:PRODH HGNC:9453 OMIM:606810 Reactome:O43272 SwissProt:O43272 PRODH proline dehydrogenase 1 3p13 BV8 KAL4 MIT1 PK2 protein Bv8 homolog ClinVar:PROK2 Ensembl:ENSG00000163421 Genatlas:PROK2 HGNC:18455 OMIM:607002 Reactome:Q9HC23 SwissProt:Q9HC23 PROK2 prokineticin 2 20p12.3 GPR73b GPRg2 PKR2 dJ680N4.3 ClinVar:PROKR2 Ensembl:ENSG00000101292 Genatlas:PROKR2 HGNC:15836 IUPHAR:336 OMIM:607123 Reactome:Q8NFJ6 SwissProt:Q8NFJ6 PROKR2 prokineticin receptor 2 5q35.3 ClinVar:PROP1 Ensembl:ENSG00000175325 Genatlas:PROP1 HGNC:9455 OMIM:601538 Reactome:O75360 SwissProt:O75360 PROP1 PROP paired-like homeobox 1 3q11.1 ClinVar:PROS1 Ensembl:ENSG00000184500 Genatlas:PROS1 HGNC:9456 OMIM:176880 Reactome:P07225 SwissProt:P07225 PROS1 protein S 1q21.2 HPRP3 Prp3 SNRNP90 U4/U6 small nuclear ribonucleoprotein Prp3 hPrp3 ClinVar:PRPF3 Ensembl:ENSG00000117360 Genatlas:PRPF3 HGNC:17348 OMIM:607301 Reactome:O43395 SwissProt:O43395 PRPF3 pre-mRNA processing factor 3 19q13.42 NY-BR-99 PRP31 SNRNP61 U4/U6 small nuclear ribonucleoprotein Prp31 hPrp31 ClinVar:PRPF31 Ensembl:ENSG00000105618 Genatlas:PRPF31 HGNC:15446 OMIM:606419 Reactome:Q8WWY3 SwissProt:Q8WWY3 PRPF31 pre-mRNA processing factor 31 17p13.3 PRPC8 Prp8 SNRNP220 hPrp8 ClinVar:PRPF8 Ensembl:ENSG00000174231 Genatlas:PRPF8 HGNC:17340 OMIM:607300 Reactome:Q6P2Q9 SwissProt:Q6P2Q9 PRPF8 pre-mRNA processing factor 8 6p21.1 CACD2 TSPAN22 choroidal dystrophy, central areolar 2 rd2 retinal peripherin tetraspanin-22 ClinVar:PRPH2 Ensembl:ENSG00000112619 Genatlas:PRPH2 HGNC:9942 OMIM:179605 SwissProt:P23942 PRPH2 peripherin 2 Xq22.3 CMTX5 DFNX1 PPRibP PRS I PRS-I ribose-phosphate diphosphokinase 1 ClinVar:PRPS1 Ensembl:ENSG00000147224 Genatlas:PRPS1 HGNC:9462 OMIM:311850 Reactome:P60891 SwissProt:P60891 PRPS1 phosphoribosyl pyrophosphate synthetase 1 7q34 ClinVar:PRSS1 Ensembl:ENSG00000204983 Genatlas:PRSS1 HGNC:9475 IUPHAR:2397 OMIM:276000 Reactome:P07477 SwissProt:P07477 PRSS1 serine protease 1 4q26 BSSP-3 MRT1 brain-specific serine protease 3 mental retardation, autosomal recessive 1 motopsin neurotrypsin ClinVar:PRSS12 Ensembl:ENSG00000164099 Genatlas:PRSS12 HGNC:9477 OMIM:606709 SwissProt:P56730 PRSS12 serine protease 12 19p13.3 ACPA AGP7 C-ANCA MBT P29 PR-3 Wegener granulomatosis autoantigen myeloblastin serine proteinase, neutrophil ClinVar:PRTN3 Ensembl:ENSG00000196415 Genatlas:PRTN3 HGNC:9495 IUPHAR:2401 OMIM:177020 Reactome:P24158 SwissProt:P24158 PRTN3 proteinase 3 19q13.2 KIAA1620 ClinVar:PRX Ensembl:ENSG00000105227 Genatlas:PRX HGNC:13797 OMIM:605725 SwissProt:Q9BXM0 PRX periaxin 10q22.1 precursor of saposins saposin-A saposin-B saposin-C saposin-D variant Gaucher disease and variant metachromatic leukodystrophy ClinVar:PSAP Ensembl:ENSG00000197746 Genatlas:PSAP HGNC:9498 OMIM:176801 Reactome:P07602 SwissProt:P07602 PSAP prosaposin 14q24.2 FAD PS-1 PS1 PSNL1 S182 familial Alzheimer Disease ClinVar:PSEN1 Ensembl:ENSG00000080815 Genatlas:PSEN1 HGNC:9508 IUPHAR:2402 OMIM:104311 Reactome:P49768 SwissProt:P49768 PSEN1 presenilin 1 1q42.13 AD3L Alzheimer disease 3-like E5-1 PS-2 PS2 STM2 ClinVar:PSEN2 Ensembl:ENSG00000143801 Genatlas:PSEN2 HGNC:9509 IUPHAR:2403 OMIM:600759 Reactome:P49810 SwissProt:P49810 PSEN2 presenilin 2 7p11.2 ClinVar:PSPH Ensembl:ENSG00000146733 Genatlas:PSPH HGNC:9577 OMIM:172480 Reactome:P78330 SwissProt:P78330 PSPH phosphoserine phosphatase 15q24.3 CD2 antigen-binding protein 1 CD2 cytoplasmic tail-binding protein CD2BP1 CD2BP1L CD2BP1S H-PIP PAPAS PEST phosphatase-interacting protein 1 PSTPIP ClinVar:PSTPIP1 Ensembl:ENSG00000140368 Genatlas:PSTPIP1 HGNC:9580 OMIM:606347 Reactome:O43586 SwissProt:O43586 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 9q22.32 BCNS ClinVar:PTCH1 Ensembl:ENSG00000185920 Genatlas:PTCH1 HGNC:9585 OMIM:601309 Reactome:Q13635 SwissProt:Q13635 PTCH1 patched 1 1p34.1 ClinVar:PTCH2 Ensembl:ENSG00000117425 Genatlas:PTCH2 HGNC:9586 OMIM:603673 Reactome:Q9Y6C5 SwissProt:Q9Y6C5 PTCH2 patched 2 10q23.31 MMAC1 PTEN1 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN TEP1 mutated in multiple advanced cancers 1 ClinVar:PTEN Ensembl:ENSG00000171862 Genatlas:PTEN HGNC:9588 IUPHAR:2497 OMIM:601728 Reactome:P60484 SwissProt:P60484 PTEN phosphatase and tensin homolog 10p12.2 PTF1-p48 bHLHa29 p48 ClinVar:PTF1A Ensembl:ENSG00000168267 Genatlas:PTF1A HGNC:23734 OMIM:607194 Reactome:Q7RTS3 SwissProt:Q7RTS3 PTF1A pancreas associated transcription factor 1a 11p15.3 PTH1 parathormone parathyrin parathyroid hormone 1 prepro-PTH preproparathyroid hormone ClinVar:PTH Ensembl:ENSG00000152266 Genatlas:PTH HGNC:9606 OMIM:168450 Reactome:P01270 SwissProt:P01270 PTH parathyroid hormone 3p21.31 ClinVar:PTH1R Ensembl:ENSG00000160801 Genatlas:PTH1R HGNC:9608 IUPHAR:331 OMIM:168468 Reactome:Q03431 SwissProt:Q03431 PTH1R parathyroid hormone 1 receptor 12q24.13 BPTP3 PTP2C SH-PTP2 SH2 domain-containing protein tyrosine phosphatase 2 SHP-2 SHP2 ClinVar:PTPN11 Ensembl:ENSG00000179295 Genatlas:PTPN11 HGNC:9644 IUPHAR:3203 OMIM:176876 Reactome:Q06124 SwissProt:Q06124 PTPN11 protein tyrosine phosphatase non-receptor type 11 1q31.3-q32.1 B220 CD45R GP180 LCA LY5 T200 glycoprotein 180 leukocyte-common antigen ClinVar:PTPRC Ensembl:ENSG00000081237 Genatlas:PTPRC HGNC:9666 IUPHAR:1852 OMIM:151460 Reactome:P08575 SwissProt:P08575 PTPRC protein tyrosine phosphatase receptor type C 11q23.1 PTPS ClinVar:PTS Ensembl:ENSG00000150787 Genatlas:PTS HGNC:9689 OMIM:612719 Reactome:Q03393 SwissProt:Q03393 PTS 6-pyruvoyltetrahydropterin synthase 12q24.33 MLASA1 mitochondrial myopathy and sideroblastic anemia 1 tRNA pseudouridine(38-40) synthase ClinVar:PUS1 Ensembl:ENSG00000177192 Genatlas:PUS1 HGNC:15508 OMIM:608109 Reactome:Q9Y606 SwissProt:Q9Y606 PUS1 pseudouridine synthase 1 11q23.3 CD111 CLPED1 HIgR Nectin-1 OFC7 PRR PRR1 PVRR1 SK-12 nectin ClinVar:NECTIN1 Ensembl:ENSG00000110400 Genatlas:PVRL1 HGNC:9706 OMIM:600644 Reactome:Q15223 SwissProt:Q15223 NECTIN1 nectin cell adhesion molecule 1 8q21.13 PAF-1 PMP35 RNF72 ZWS3 Zellweger syndrome peroxin 2 ClinVar: ClinVar:PEX2 Ensembl:ENSG00000164751 Genatlas:PXMP3 HGNC:9717 OMIM:170993 Reactome:P28328 SwissProt:P28328 PEX2 peroxisomal biogenesis factor 2 14q22.1 GSD6 Hers disease glycogen phosphorylase, liver form glycogen storage disease type VI ClinVar:PYGL Ensembl:ENSG00000100504 Genatlas:PYGL HGNC:9725 OMIM:613741 Reactome:P06737 SwissProt:P06737 PYGL glycogen phosphorylase L 11q13.1 GSD5 McArdle syndrome glycogen phosphorylase, muscle form glycogen storage disease type V myophosphorylase ClinVar:PYGM Ensembl:ENSG00000068976 Genatlas:PYGM HGNC:9726 OMIM:608455 Reactome:P11217 SwissProt:P11217 PYGM glycogen phosphorylase, muscle associated 4p15.32 6,7-dihydropteridine reductase DHPR PKU2 SDR33C1 short chain dehydrogenase/reductase family 33C, member 1 ClinVar:QDPR Ensembl:ENSG00000151552 Genatlas:QDPR HGNC:9752 OMIM:612676 Reactome:P09417 SwissProt:P09417 QDPR quinoid dihydropteridine reductase 15q21.3 GS2 HsT18676 RAB27 RAM ClinVar:RAB27A Ensembl:ENSG00000069974 Genatlas:RAB27A HGNC:9766 IUPHAR:2916 OMIM:603868 Reactome:P51159 SwissProt:P51159 RAB27A RAB27A, member RAS oncogene family 2q21.3 KIAA0066 RAB3GAP RAB3GAP130 WARBM1 ClinVar:RAB3GAP1 Ensembl:ENSG00000115839 Genatlas:RAB3GAP1 HGNC:17063 OMIM:602536 Reactome:Q15042 SwissProt:Q15042 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 Autosomal dominant spastic ataxia type 7 SPAX7 Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. Orphanet ICD-10:G11.4 MeSH:C566247 OMIM:108650 UMLS:C1862441 Autosomal dominant Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1182 Spastic ataxia with congenital miosis ORPHA:1182 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566247 E (Exact mapping: the two concepts are equivalent) OMIM:108650 E (Exact mapping: the two concepts are equivalent) UMLS:C1862441 E (Exact mapping: the two concepts are equivalent) 1q41 DKFZP434D245 KIAA0839 RAB3-GAP150 SPG69 ClinVar:RAB3GAP2 Ensembl:ENSG00000118873 Genatlas:RAB3GAP2 HGNC:17168 OMIM:609275 Reactome:Q9H2M9 SwissProt:Q9H2M9 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 3q21.3 ClinVar:RAB7A Ensembl:ENSG00000075785 Genatlas:RAB7A HGNC:9788 OMIM:602298 Reactome:P51149 SwissProt:P51149 RAB7A RAB7A, member RAS oncogene family 15q15.1 BRCA1/BRCA2-containing complex, subunit 5 BRCC5 FANCR HsRad51 HsT16930 ClinVar:RAD51 Ensembl:ENSG00000051180 Genatlas:RAD51 HGNC:9817 OMIM:179617 Reactome:Q06609 SwissProt:Q06609 RAD51 RAD51 recombinase 11p12 MGC43321 RING finger protein 74 RNF74 V(D)J recombination-activating protein 1 recombination activating protein 1 ClinVar:RAG1 Ensembl:ENSG00000166349 Genatlas:RAG1 HGNC:9831 OMIM:179615 Reactome:P15918 SwissProt:P15918 RAG1 recombination activating 1 11p12 ClinVar:RAG2 Ensembl:ENSG00000175097 Genatlas:RAG2 HGNC:9832 OMIM:179616 Reactome:P55895 SwissProt:P55895 RAG2 recombination activating 2 17p11.2 DKFZP434A139 KIAA1820 MGC12824 SMS ClinVar:RAI1 Ensembl:ENSG00000108557 Genatlas:RAI1 HGNC:9834 OMIM:607642 Reactome:Q7Z5J4 SwissProt:Q7Z5J4 RAI1 retinoic acid induced 1 11p11.2 CMS1D CMS1E RNF205 rapsyn ClinVar:RAPSN Ensembl:ENSG00000165917 Genatlas:RAPSN HGNC:9863 OMIM:601592 SwissProt:Q13702 RAPSN receptor associated protein of the synapse 17q21.2 NR1B1 RAR RAR-alpha RARalpha ClinVar:RARA Ensembl:ENSG00000131759 Genatlas:RARA HGNC:9864 IUPHAR:590 OMIM:180240 Reactome:P10276 SwissProt:P10276 RARA retinoic acid receptor alpha 5q14.3 CM-AVM GAP Ras GTPase-activating protein 1 capillary malformation-arteriovenous malformation p120 p120 RAS GTPase activating protein p120GAP p120RASGAP ClinVar:RASA1 Ensembl:ENSG00000145715 Genatlas:RASA1 HGNC:9871 OMIM:139150 Reactome:P20936 SwissProt:P20936 RASA1 RAS p21 protein activator 1 13q14.2 PPP1R130 RB prepro-retinoblastoma-associated protein protein phosphatase 1, regulatory subunit 130 ClinVar:RB1 Ensembl:ENSG00000139687 Genatlas:RB1 HGNC:9884 OMIM:614041 Reactome:P06400 SwissProt:P06400 RB1 RB transcriptional corepressor 1 1q32.3 LCA12 ClinVar:RD3 Ensembl:ENSG00000198570 Genatlas:RD3 HGNC:19689 OMIM:180040 Reactome:Q7Z3Z2 SwissProt:Q7Z3Z2 RD3 RD3 regulator of GUCY2D 14q24.1 FLJ30273 LCA13 RP53 SDR7C2 short chain dehydrogenase/reductase family 7C, member 2 ClinVar:RDH12 Ensembl:ENSG00000139988 Genatlas:RDH12 HGNC:19977 OMIM:608830 Reactome:Q96NR8 SwissProt:Q96NR8 RDH12 retinol dehydrogenase 12 12q13.2 HSD17B9 SDR9C5 short chain dehydrogenase/reductase family 9C, member 5 ClinVar:RDH5 Ensembl:ENSG00000135437 Genatlas:RDH5 HGNC:9940 OMIM:601617 Reactome:Q92781 SwissProt:Q92781 RDH5 retinol dehydrogenase 5 8q24.3 RecQ4 ClinVar:RECQL4 Ensembl:ENSG00000160957 Genatlas:RECQL4 HGNC:9949 OMIM:603780 SwissProt:O94761 RECQL4 RecQ like helicase 4 2p11.2 FLJ13110 SPG31 Yip2a receptor expression enhancing protein 1 ClinVar:REEP1 Ensembl:ENSG00000068615 Genatlas:REEP1 HGNC:25786 OMIM:609139 Reactome:Q9H902 SwissProt:Q9H902 REEP1 receptor accessory protein 1 7q22.1 PRO1598 RL ClinVar:RELN Ensembl:ENSG00000189056 Genatlas:RELN HGNC:9957 OMIM:600514 Reactome:P78509 SwissProt:P78509 RELN reelin 10q11.21 CDHF12 CDHR16 PTC RET receptor tyrosine kinase RET51 cadherin-related family member 16 rearranged during transfection ClinVar:RET Ensembl:ENSG00000165731 Genatlas:RET HGNC:9967 IUPHAR:2185 OMIM:164761 Reactome:P07949 SwissProt:P07949 RET ret proto-oncogene 7q11.23 A1 RFC40 activator 1 ClinVar:RFC2 Ensembl:ENSG00000049541 Genatlas:RFC2 HGNC:9970 OMIM:600404 Reactome:P35250 SwissProt:P35250 RFC2 replication factor C subunit 2 1q21.3 ClinVar:RFX5 Ensembl:ENSG00000143390 Genatlas:RFX5 HGNC:9986 OMIM:601863 Reactome:P48382 SwissProt:P48382 RFX5 regulatory factor X5 19p13.11 ANKRA1 BLS DNA-binding protein RFXANK F14150_1 MGC138628 RFX-B RFX-Bdelta4 ankyrin repeat-containing regulatory factor X-associated protein regulatory factor X subunit B ClinVar:RFXANK Ensembl:ENSG00000064490 Genatlas:RFXANK HGNC:9987 OMIM:603200 SwissProt:O14593 RFXANK regulatory factor X associated ankyrin containing protein 13q13.3 ClinVar:RFXAP Ensembl:ENSG00000133111 Genatlas:RFXAP HGNC:9988 OMIM:601861 SwissProt:O00287 RFXAP regulatory factor X associated protein 10q23.1 RGR-opsin RP44 ClinVar:RGR Ensembl:ENSG00000148604 Genatlas:RGR HGNC:9990 OMIM:600342 Reactome:P47804 SwissProt:P47804 RGR retinal G protein coupled receptor 17q24.1 MGC111763 MGC26458 PERRS RGS9L regulator of G protein signalling 9 regulator of G protein signalling 9L regulator of G-protein signaling 9L ClinVar:RGS9 Ensembl:ENSG00000108370 Genatlas:RGS9 HGNC:10004 IUPHAR:2817 OMIM:604067 Reactome:O75916 SwissProt:O75916 RGS9 regulator of G protein signaling 9 Ataxo-opso-myoclonus syndrome Dancing eye syndrome Dancing eye-dancing feet syndrome Kinsbourne syndrome OMA syndrome OMS Opsoclonus-myoclonus-ataxia syndrome POMA syndrome Paraneoplastic opsoclonus-myoclonus Paraneoplastic opsoclonus-myoclonus-ataxia syndrome Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. Orphanet ICD-10:G25.3 ICD-11:9C85.02 MeSH:D053578 MedDRA:10053854 UMLS:C0393626 Not applicable Childhood Infancy Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1183 Opsoclonus-myoclonus syndrome ORPHA:1183 ICD-10:G25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C85.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053578 E (Exact mapping: the two concepts are equivalent) MedDRA:10053854 E (Exact mapping: the two concepts are equivalent) UMLS:C0393626 E (Exact mapping: the two concepts are equivalent) 19q13.11 FLJ45744 PERRS R9AP RGS9 ClinVar:RGS9BP Ensembl:ENSG00000186326 Genatlas:RGS9BP HGNC:30304 OMIM:607814 Reactome:Q6ZS82 SwissProt:Q6ZS82 RGS9BP regulator of G protein signaling 9 binding protein 6p12.3 Ammonium transporter Rh type A CD241 RH50A SLC42A1 ClinVar:RHAG Ensembl:ENSG00000112077 Genatlas:RHAG HGNC:10006 IUPHAR:1198 OMIM:180297 Reactome:Q02094 SwissProt:Q02094 RHAG Rh associated glycoprotein 1p36.11 CD240CE SLC42A4 ClinVar:RHCE Ensembl:ENSG00000188672 Genatlas:RHCE HGNC:10008 OMIM:111700 SwissProt:P18577 RHCE Rh blood group CcEe antigens 3q22.1 CSNBAD1 OPN2 opsin 2, rod pigment ClinVar:RHO Ensembl:ENSG00000163914 Genatlas:RHO HGNC:10012 IUPHAR:2963 OMIM:180380 Reactome:P08100 SwissProt:P08100 RHO rhodopsin 6q13 KIAA0340 RIM RIM1 Rab3-interacting molecule ClinVar:RIMS1 Ensembl:ENSG00000079841 Genatlas:RIMS1 HGNC:17282 OMIM:606629 Reactome:Q86UR5 SwissProt:Q86UR5 RIMS1 regulating synaptic membrane exocytosis 1 15q26.1 CRALBP ClinVar:RLBP1 Ensembl:ENSG00000140522 Genatlas:RLBP1 HGNC:10024 IUPHAR:2545 OMIM:180090 Reactome:P12271 SwissProt:P12271 RLBP1 retinaldehyde binding protein 1 19p13.13 AGS4 RNASEHI RNHIA RNHL ClinVar:RNASEH2A Ensembl:ENSG00000104889 Genatlas:RNASEH2A HGNC:18518 OMIM:606034 SwissProt:O75792 RNASEH2A ribonuclease H2 subunit A 13q14.3 FLJ11712 ClinVar:RNASEH2B Ensembl:ENSG00000136104 Genatlas:RNASEH2B HGNC:25671 OMIM:610326 SwissProt:Q5TBB1 RNASEH2B ribonuclease H2 subunit B 11q13.1 AGS3 AYP1 Aicardi-Goutieres syndrome 3 ClinVar:RNASEH2C Ensembl:ENSG00000172922 Genatlas:RNASEH2C HGNC:24116 OMIM:610330 SwissProt:Q8TDP1 RNASEH2C ribonuclease H2 subunit C 1q25.3 ClinVar:RNASEL Ensembl:ENSG00000135828 Genatlas:RNASEL HGNC:10050 OMIM:180435 Reactome:Q05823 SwissProt:Q05823 RNASEL ribonuclease L 8q24.13 HRCA1 RCA1 TRC8 translocation in renal carcinoma, chromosome 8 ClinVar:RNF139 Ensembl:ENSG00000170881 Genatlas:RNF139 HGNC:17023 OMIM:603046 Reactome:Q8WU17 SwissProt:Q8WU17 RNF139 ring finger protein 139 11q24.2 FLJ21044 HGPS RBIG1 ClinVar:ROBO3 Ensembl:ENSG00000154134 Genatlas:ROBO3 HGNC:13433 OMIM:608630 Reactome:Q96MS0 SwissProt:Q96MS0 ROBO3 roundabout guidance receptor 3 11q12.3 ROM TSPAN23 ClinVar:ROM1 Ensembl:ENSG00000149489 Genatlas:ROM1 HGNC:10254 OMIM:180721 SwissProt:Q03395 ROM1 retinal outer segment membrane protein 1 9q22.31 ClinVar:ROR2 Ensembl:ENSG00000169071 Genatlas:ROR2 HGNC:10257 IUPHAR:1846 OMIM:602337 Reactome:Q01974 SwissProt:Q01974 ROR2 receptor tyrosine kinase like orphan receptor 2 8q11.23-q12.1 DCDC4A ORP1 doublecortin domain containing 4A oxygen-regulated protein 1 ClinVar:RP1 Ensembl:ENSG00000104237 Genatlas:RP1 HGNC:10263 OMIM:603937 SwissProt:P56715 RP1 RP1 axonemal microtubule associated Xp11.3 NM23-H10 NME10 TBCCD2 ClinVar:RP2 Ensembl:ENSG00000102218 Genatlas:RP2 HGNC:10274 OMIM:300757 Reactome:O75695 SwissProt:O75695 RP2 RP2 activator of ARL3 GTPase 7p14.3 PAP-1 Pim-1 kinase associated protein ClinVar:RP9 Ensembl:ENSG00000164610 Genatlas:RP9 HGNC:10288 OMIM:607331 Reactome:Q8TA86 SwissProt:Q8TA86 RP9 RP9 pre-mRNA splicing factor 1p31.3 BCO family, member 3 BCO3 LCA2 all-trans-retinyl-palmitate hydrolase rd12 retinol isomerase ClinVar:RPE65 Ensembl:ENSG00000116745 Genatlas:RPE65 HGNC:10294 OMIM:180069 Reactome:Q16518 SwissProt:Q16518 RPE65 retinoid isomerohydrolase RPE65 Xp11.4 CORDX1 ClinVar:RPGR Ensembl:ENSG00000156313 Genatlas:RPGR HGNC:10295 OMIM:312610 Reactome:Q92834 SwissProt:Q92834 RPGR retinitis pigmentosa GTPase regulator 14q11.2 CORD13 LCA6 RGI1 ClinVar:RPGRIP1 Ensembl:ENSG00000092200 Genatlas:RPGRIP1 HGNC:13436 OMIM:605446 Reactome:Q96KN7 SwissProt:Q96KN7 RPGRIP1 RPGR interacting protein 1 Xq28 DXS648 DXS648E FLJ23544 L10 NOV QM uL16 ClinVar:RPL10 Ensembl:ENSG00000147403 Genatlas:RPL10 HGNC:10298 OMIM:312173 Reactome:P27635 SwissProt:P27635 RPL10 ribosomal protein L10 Fenton-Wilkinson-Toselano syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q87.8 UMLS:C4751230 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1184 Ataxia-photosensitivity-short stature syndrome ORPHA:1184 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751230 E (Exact mapping: the two concepts are equivalent) 19q13.2 DBA Diamond-Blackfan anemia S19 eS19 ClinVar:RPS19 Ensembl:ENSG00000105372 Genatlas:RPS19 HGNC:10402 OMIM:603474 Reactome:P39019 SwissProt:P39019 RPS19 ribosomal protein S19 10q22.3 S24 eS24 ClinVar:RPS24 Ensembl:ENSG00000138326 Genatlas:RPS24 HGNC:10411 OMIM:602412 Reactome:P62847 SwissProt:P62847 RPS24 ribosomal protein S24 Xp22.12 HU-3 RSK RSK2 ClinVar:RPS6KA3 Ensembl:ENSG00000177189 Genatlas:RPS6KA3 HGNC:10432 IUPHAR:1528 OMIM:300075 Reactome:P51812 SwissProt:P51812 RPS6KA3 ribosomal protein S6 kinase A3 Xp22.13 XLRS1 ClinVar:RS1 Ensembl:ENSG00000102104 Genatlas:RS1 HGNC:10457 OMIM:300839 SwissProt:O15537 RS1 retinoschisin 1 1p34.3 FLJ40906 RSPONDIN ClinVar:RSPO1 Ensembl:ENSG00000169218 Genatlas:RSPO1 HGNC:21679 OMIM:609595 Reactome:Q2MKA7 SwissProt:Q2MKA7 RSPO1 R-spondin 1 20p13 dJ824F16.3 ClinVar:RSPO4 Ensembl:ENSG00000101282 Genatlas:RSPO4 HGNC:16175 OMIM:610573 Reactome:Q2I0M5 SwissProt:Q2I0M5 RSPO4 R-spondin 4 21q22.12 AMLCR1 PEBP2A2 aml1 oncogene ClinVar:RUNX1 Ensembl:ENSG00000159216 Genatlas:RUNX1 HGNC:10471 OMIM:151385 Reactome:Q01196 SwissProt:Q01196 RUNX1 RUNX family transcription factor 1 6p21.1 AML3 PEBP2A1 PEBP2aA1 ClinVar:RUNX2 Ensembl:ENSG00000124813 Genatlas:RUNX2 HGNC:10472 OMIM:600211 Reactome:Q13950 SwissProt:Q13950 RUNX2 RUNX family transcription factor 2 19q13.2 PPP1R137 RYR protein phosphatase 1, regulatory subunit 137 ClinVar:RYR1 Ensembl:ENSG00000196218 Genatlas:RYR1 HGNC:10483 IUPHAR:747 OMIM:180901 Reactome:P21817 SwissProt:P21817 RYR1 ryanodine receptor 1 1q43 ARVC2 VTSIP ClinVar:RYR2 Ensembl:ENSG00000198626 Genatlas:RYR2 HGNC:10484 IUPHAR:748 OMIM:180902 Reactome:Q92736 SwissProt:Q92736 RYR2 ryanodine receptor 2 13q12.12 ARSACS DKFZp686B15167 DNAJC29 KIAA0730 PPP1R138 SPAX6 protein phosphatase 1, regulatory subunit 138 ClinVar:SACS Ensembl:ENSG00000151835 Genatlas:SACS HGNC:10519 OMIM:604490 SwissProt:Q9NZJ4 SACS sacsin molecular chaperone 2q37.1 ARRESTIN RP47 arrestin 1 rod arrestin ClinVar:SAG Ensembl:ENSG00000130561 Genatlas:SAG HGNC:10521 OMIM:181031 Reactome:P10523 SwissProt:P10523 SAG S-antigen visual arrestin 16q12.1 Hsal1 ZNF794 ClinVar:SALL1 Ensembl:ENSG00000103449 Genatlas:SALL1 HGNC:10524 OMIM:602218 Reactome:Q9NSC2 SwissProt:Q9NSC2 SALL1 spalt like transcription factor 1 20q13.2 ZNF797 dJ1112F19.1 ClinVar:SALL4 Ensembl:ENSG00000101115 Genatlas:SALL4 HGNC:15924 OMIM:607343 Reactome:Q9UJQ4 SwissProt:Q9UJQ4 SALL4 spalt like transcription factor 4 7q21.2 FLJ20073 KIAA2004 ClinVar:SAMD9 Ensembl:ENSG00000205413 Genatlas:SAMD9 HGNC:1348 OMIM:610456 SwissProt:Q5K651 SAMD9 sterile alpha motif domain containing 9 5q31.1 ClinVar:SAR1B Ensembl:ENSG00000152700 Genatlas:SAR1B HGNC:10535 OMIM:607690 Reactome:Q9Y6B6 SwissProt:Q9Y6B6 SAR1B secretion associated Ras related GTPase 1B 9q34.2 SDH ClinVar:SARDH Ensembl:ENSG00000123453 Genatlas:SARDH HGNC:10536 OMIM:604455 Reactome:Q9UL12 SwissProt:Q9UL12 SARDH sarcosine dehydrogenase 7q11.21 CGI-97 FLJ10917 SDO1 SDS SWDS ClinVar:SBDS Ensembl:ENSG00000126524 Genatlas:SBDS HGNC:19440 OMIM:607444 SwissProt:Q9Y3A5 SBDS SBDS ribosome maturation factor 11p15.4 DENND7B KIAA1766 MTMR13 myotubularin related 13 ClinVar:SBF2 Ensembl:ENSG00000133812 Genatlas:SBF2 HGNC:2135 OMIM:607697 Reactome:Q86WG5 SwissProt:Q86WG5 SBF2 SET binding factor 2 11q23.3-q24.1 delta(7)-sterol 5(6)-desaturase lathosterol oxidase ClinVar:SC5DL Ensembl:ENSG00000109929 Genatlas:SC5DL HGNC:10547 OMIM:602286 Reactome:O75845 SwissProt:O75845 SC5D sterol-C5-desaturase 2q24.3 GEFSP2 HBSCI NAC1 Nav1.1 SMEI ClinVar:SCN1A Ensembl:ENSG00000144285 Genatlas:SCN1A HGNC:10585 IUPHAR:578 OMIM:182389 Reactome:P35498 SwissProt:P35498 SCN1A sodium voltage-gated channel alpha subunit 1 19q13.11 ClinVar:SCN1B Ensembl:ENSG00000105711 Genatlas:SCN1B HGNC:10586 OMIM:600235 Reactome:Q07699 SwissProt:Q07699 SCN1B sodium voltage-gated channel beta subunit 1 A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:G11.8 OMIM:271270 UMLS:C0796166 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1185 Spinocerebellar ataxia-dysmorphism syndrome ORPHA:1185 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:271270 E (Exact mapping: the two concepts are equivalent) UMLS:C0796166 E (Exact mapping: the two concepts are equivalent) 2q24.3 HBSCI HBSCII Nav1.2 ClinVar:SCN2A Ensembl:ENSG00000136531 Genatlas:SCN2A HGNC:10588 IUPHAR:579 OMIM:182390 Reactome:Q99250 SwissProt:Q99250 SCN2A sodium voltage-gated channel alpha subunit 2 17q23.3 HYPP Nav1.4 SkM1 ClinVar:SCN4A Ensembl:ENSG00000007314 Genatlas:SCN4A HGNC:10591 IUPHAR:581 OMIM:603967 Reactome:P35499 SwissProt:P35499 SCN4A sodium voltage-gated channel alpha subunit 4 3p22.2 CDCD2 CMPD2 HB1 HB2 HBBD HH1 ICCD IVF LQT3 Nav1.5 PFHB1 SSS1 long QT syndrome 3 ClinVar:SCN5A Ensembl:ENSG00000183873 Genatlas:SCN5A HGNC:10593 IUPHAR:582 OMIM:600163 Reactome:Q14524 SwissProt:Q14524 SCN5A sodium voltage-gated channel alpha subunit 5 2q24.3 ETHA NE-NA NENA Nav1.7 PN1 ClinVar:SCN9A Ensembl:ENSG00000169432 Genatlas:SCN9A HGNC:10597 IUPHAR:584 OMIM:603415 Reactome:Q15858 SwissProt:Q15858 SCN9A sodium voltage-gated channel alpha subunit 9 12p13.31 ENaCalpha amiloride-sensitive sodium channel subunit alpha ClinVar:SCNN1A Ensembl:ENSG00000111319 Genatlas:SCNN1A HGNC:10599 IUPHAR:738 OMIM:600228 Reactome:P37088 SwissProt:P37088 SCNN1A sodium channel epithelial 1 subunit alpha 16p12.2 ENaCbeta Liddle syndrome amiloride-sensitive sodium channel subunit beta ClinVar:SCNN1B Ensembl:ENSG00000168447 Genatlas:SCNN1B HGNC:10600 IUPHAR:739 OMIM:600760 Reactome:P51168 SwissProt:P51168 SCNN1B sodium channel epithelial 1 subunit beta 16p12.2 ENaCgamma SCNEG amiloride-sensitive sodium channel subunit gamma ClinVar:SCNN1G Ensembl:ENSG00000166828 Genatlas:SCNN1G HGNC:10602 IUPHAR:741 OMIM:600761 Reactome:P51170 SwissProt:P51170 SCNN1G sodium channel epithelial 1 subunit gamma 17p13.1 ClinVar:SCO1 Ensembl:ENSG00000133028 Genatlas:SCO1 HGNC:10603 OMIM:603644 Reactome:O75880 SwissProt:O75880 SCO1 synthesis of cytochrome C oxidase 1 22q13.33 SCO1L ClinVar:SCO2 Ensembl:ENSG00000284194 Genatlas:SCO2 HGNC:10604 OMIM:604272 Reactome:O43819 SwissProt:O43819 SCO2 synthesis of cytochrome C oxidase 2 5p15.33 FP SDHF flavoprotein subunit of complex II succinate dehydrogenase [ubiquinone] flavoprotein subunit ClinVar:SDHA Ensembl:ENSG00000073578 Genatlas:SDHA HGNC:10680 OMIM:600857 Reactome:P31040 SwissProt:P31040 SDHA succinate dehydrogenase complex flavoprotein subunit A 1p36.13 iron-sulfur subunit of complex II succinate dehydrogenase [ubiquinone] iron-sulfur subunit ClinVar:SDHB Ensembl:ENSG00000117118 Genatlas:SDHB HGNC:10681 OMIM:185470 Reactome:P21912 SwissProt:P21912 SDHB succinate dehydrogenase complex iron sulfur subunit B 1q23.3 CYB560 cybL large subunit of cytochrome b succinate dehydrgenase cytochrome b succinate dehydrogenase cytochrome b560 subunit ClinVar:SDHC Ensembl:ENSG00000143252 Genatlas:SDHC HGNC:10682 OMIM:602413 Reactome:Q99643 SwissProt:Q99643 SDHC succinate dehydrogenase complex subunit C 11q23.1 cybS small subunit of cytochrome b ClinVar:SDHD Ensembl:ENSG00000204370 Genatlas:SDHD HGNC:10683 OMIM:602690 Reactome:O14521 SwissProt:O14521 SDHD succinate dehydrogenase complex subunit D 14q21.1 ClinVar:SEC23A Ensembl:ENSG00000100934 Genatlas:SEC23A HGNC:10701 OMIM:610511 Reactome:Q15436 SwissProt:Q15436 SEC23A SEC23 homolog A, COPII coat complex component 6q21 DNAJC23 ERdj2 PRO2507 SEC63L ClinVar:SEC63 Ensembl:ENSG00000025796 Genatlas:SEC63 HGNC:21082 OMIM:608648 Reactome:Q9UGP8 SwissProt:Q9UGP8 SEC63 SEC63 homolog, protein translocation regulator 7q21.11 KIAA0331 M-SemaK M-sema H coll-5 ClinVar:SEMA3E Ensembl:ENSG00000170381 Genatlas:SEMA3E HGNC:10727 OMIM:608166 Reactome:O15041 SwissProt:O15041 SEMA3E semaphorin 3E 1p36.11 RSS SELN ClinVar:SEPN1 Ensembl:ENSG00000162430 Genatlas:SEPN1 HGNC:15999 OMIM:606210 SwissProt:Q9NZV5 SELENON selenoprotein N IOSCA Ohaha syndrome Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Orphanet ICD-10:G11.1 ICD-11:LD90.Y MeSH:C535523 OMIM:271245 UMLS:C1849096 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1186 Infantile-onset spinocerebellar ataxia ORPHA:1186 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535523 E (Exact mapping: the two concepts are equivalent) OMIM:271245 E (Exact mapping: the two concepts are equivalent) UMLS:C1849096 E (Exact mapping: the two concepts are equivalent) 14q32.13 A1A A1AT AAT PI1 alpha-1 antitrypsin alpha-1 proteinase inhibitor alpha-1-antitrypsin alpha1AT anti-elastase protease inhibitor 1 protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin ClinVar:SERPINA1 Ensembl:ENSG00000197249 Genatlas:SERPINA1 HGNC:8941 OMIM:107400 Reactome:P01009 SwissProt:P01009 SERPINA1 serpin family A member 1 1q25.1 ATIII MGC22579 antithrombin (aa 375-432) antithrombin III coding sequence signal peptide antithrombin part 1 signal peptide antithrombin part 1 ClinVar:SERPINC1 Ensembl:ENSG00000117601 Genatlas:SERPINC1 HGNC:775 IUPHAR:2632 OMIM:107300 Reactome:P01008 SwissProt:P01008 SERPINC1 serpin family C member 1 7q22.1 PAI plasminogen activator inhibitor, type I ClinVar:SERPINE1 Ensembl:ENSG00000106366 Genatlas:SERPINE1 HGNC:8583 OMIM:173360 Reactome:P05121 SwissProt:P05121 SERPINE1 serpin family E member 1 11q12.1 C1-INH C1-inhibitor C1IN C1INH HAE1 HAE2 angioedema, hereditary plasma protease C1 inhibitor ClinVar:SERPING1 Ensembl:ENSG00000149131 Genatlas:SERPING1 HGNC:1228 OMIM:606860 Reactome:P05155 SwissProt:P05155 SERPING1 serpin family G member 1 3q26.1 neuroserpin ClinVar:SERPINI1 Ensembl:ENSG00000163536 Genatlas:SERPINI1 HGNC:8943 OMIM:602445 SwissProt:Q99574 SERPINI1 serpin family I member 1 9q34.13 AOA2 KIAA0625 STEX Sen1 ClinVar:SETX Ensembl:ENSG00000107290 Genatlas:SETX HGNC:445 OMIM:608465 Reactome:Q7Z333 SwissProt:Q7Z333 SETX senataxin 10q22.3 COLEC4 SP-A SP-A1 surfactant, pulmonary-associated protein A1A ClinVar:SFTPA1 Ensembl:ENSG00000122852 Genatlas:SFTPA1 HGNC:10798 OMIM:178630 Reactome:Q8IWL2 SwissProt:Q8IWL2 SFTPA1 surfactant protein A1 2p11.2 SP-B ClinVar:SFTPB Ensembl:ENSG00000168878 Genatlas:SFTPB HGNC:10801 OMIM:178640 Reactome:P07988 SwissProt:P07988 SFTPB surfactant protein B 8p21.3 BRICD6 BRICHOS domain containing 6 PSP-C SMDP2 SP-C ClinVar:SFTPC Ensembl:ENSG00000168484 Genatlas:SFTPC HGNC:10802 OMIM:178620 Reactome:P11686 SwissProt:P11686 SFTPC surfactant protein C 17q21.33 50kD DAG A2 DMDA2 LGMD2D SCARMD1 adhalin limb girdle muscular dystrophy 2D ClinVar:SGCA Ensembl:ENSG00000108823 Genatlas:SGCA HGNC:10805 OMIM:600119 SwissProt:Q16586 SGCA sarcoglycan alpha 4q12 A3b SGC ClinVar:SGCB Ensembl:ENSG00000163069 Genatlas:SGCB HGNC:10806 OMIM:600900 Reactome:Q16585 SwissProt:Q16585 SGCB sarcoglycan beta 5q33.2-q33.3 CMD1L DAGD LGMD2F ClinVar:SGCD Ensembl:ENSG00000170624 Genatlas:SGCD HGNC:10807 OMIM:601411 SwissProt:Q92629 SGCD sarcoglycan delta 7q21.3 ClinVar:SGCE Ensembl:ENSG00000127990 Genatlas:SGCE HGNC:10808 OMIM:604149 SwissProt:O43556 SGCE sarcoglycan epsilon 13q12.12 35kD dystrophin-associated glycoprotein A4 DAGA4 DMDA MGC130048 Maghrebian myopathy (autosomal recessive) SCARMD2 SCG3 TYPE gamma sarcoglycan limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive) ClinVar:SGCG Ensembl:ENSG00000102683 Genatlas:SGCG HGNC:10809 OMIM:608896 Reactome:Q13326 SwissProt:Q13326 SGCG sarcoglycan gamma 17q25.3 HSS MPS3A SFMD mucopolysaccharidosis type IIIA sulfamidase ClinVar:SGSH Ensembl:ENSG00000181523 Genatlas:SGSH HGNC:10818 OMIM:605270 Reactome:P51688 SwissProt:P51688 SGSH N-sulfoglucosamine sulfohydrolase Xq25 DSHP Duncan's disease EBVS MTCP1 SAP XLP XLPD ClinVar:SH2D1A Ensembl:ENSG00000183918 Genatlas:SH2D1A HGNC:10820 OMIM:300490 Reactome:O60880 SwissProt:O60880 SH2D1A SH2 domain containing 1A 4p16.3 CRBM RES4-23 ClinVar:SH3BP2 Ensembl:ENSG00000087266 Genatlas:SH3BP2 HGNC:10825 OMIM:602104 Reactome:P78314 SwissProt:P78314 SH3BP2 SH3 domain binding protein 2 5q32 CMT4C KIAA1985 ClinVar:SH3TC2 Ensembl:ENSG00000169247 Genatlas:SH3TC2 HGNC:29427 OMIM:608206 SwissProt:Q8TF17 SH3TC2 SH3 domain and tetratricopeptide repeats 2 22q13.33 KIAA1650 PSAP2 SPANK-2 proline rich synapse associated protein 2 prosap2 shank postsynaptic density protein shank3 postsynaptic density protein ClinVar:SHANK3 Ensembl:ENSG00000251322 Genatlas:SHANK3 HGNC:14294 OMIM:606230 Reactome:Q9BYB0 SwissProt:Q9BYB0 SHANK3 SH3 and multiple ankyrin repeat domains 3 Arts syndrome Lethal ataxia with hearing loss and optic atrophy Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Orphanet ICD-10:E79.8 ICD-11:LD2H.Y MeSH:C535388 OMIM:301835 UMLS:C0796028 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1187 Lethal ataxia with deafness and optic atrophy ORPHA:1187 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535388 E (Exact mapping: the two concepts are equivalent) OMIM:301835 E (Exact mapping: the two concepts are equivalent) UMLS:C0796028 E (Exact mapping: the two concepts are equivalent) 7q36.3 HHG1 MCOPCB5 SMMCI TPT TPTPS ClinVar:SHH Ensembl:ENSG00000164690 Genatlas:SHH HGNC:10848 OMIM:600725 Reactome:Q15465 SwissProt:Q15465 SHH sonic hedgehog signaling molecule Xp22.33 and Yp11.32 GCFX PHOG SHOX1 SHOXY SS pseudoautosomal homeobox-containing osteogenic gene ClinVar:SHOX Ensembl:ENSG00000185960 Genatlas:SHOX HGNC:10853 OMIM:312865 OMIM:400020 SwissProt:O15266 SHOX SHOX homeobox Xp11.22 KIAA1202 Protein Shroom4 SHAP Second homolog of apical protein Shrm4 ClinVar:SHROOM4 Ensembl:ENSG00000158352 Genatlas:SHROOM4 HGNC:29215 OMIM:300579 SwissProt:Q9ULL8 SHROOM4 shroom family member 4 3q26.1 Alpha-methylglucosidase Oligo-1,6-glucosidase Oligosaccharide alpha-1,6-glucosidase alpha-glucosidase ClinVar:SI Ensembl:ENSG00000090402 Genatlas:SI HGNC:10856 OMIM:609845 Reactome:P14410 SwissProt:P14410 SI sucrase-isomaltase 5q31.2 BAP ULG5 ClinVar:SIL1 Ensembl:ENSG00000120725 Genatlas:SIL1 HGNC:24624 OMIM:608005 SwissProt:Q9H173 SIL1 SIL1 nucleotide exchange factor 14q23.1 ClinVar:SIX1 Ensembl:ENSG00000126778 Genatlas:SIX1 HGNC:10887 OMIM:601205 Reactome:Q15475 SwissProt:Q15475 SIX1 SIX homeobox 1 2p21 ClinVar:SIX3 Ensembl:ENSG00000138083 Genatlas:SIX3 HGNC:10889 OMIM:603714 Reactome:O95343 SwissProt:O95343 SIX3 SIX homeobox 3 14q23.1 Six9 ClinVar:SIX6 Ensembl:ENSG00000184302 Genatlas:SIX6 HGNC:10892 OMIM:606326 SwissProt:O95475 SIX6 SIX homeobox 6 12q13.12 DCT1 DMT-1 DMT1 FLJ37416 Natural resistance-associated macrophage protein 2 divalent cation transporter 1 divalent metal transporter 1 ClinVar:SLC11A2 Ensembl:ENSG00000110911 Genatlas:SLC11A2 HGNC:10908 IUPHAR:967 OMIM:600523 Reactome:P49281 SwissProt:P49281 SLC11A2 solute carrier family 11 member 2 16q13 NCC NCCT Na-Cl symporter TSC Thiazide-sensitive sodium-chloride cotransporter sodium-chloride co-transporter ClinVar:SLC12A3 Ensembl:ENSG00000070915 Genatlas:SLC12A3 HGNC:10912 IUPHAR:970 OMIM:600968 Reactome:P55017 SwissProt:P55017 SLC12A3 solute carrier family 12 member 3 15q14 K-Cl cotransporter 3 KCC3A KCC3B ClinVar:SLC12A6 Ensembl:ENSG00000140199 Genatlas:SLC12A6 HGNC:10914 IUPHAR:973 OMIM:604878 Reactome:Q9UHW9 SwissProt:Q9UHW9 SLC12A6 solute carrier family 12 member 6 Xq13.2 DXS128E MCT7 MCT8 X-linked PEST-containing transporter XPCT monocarboxylate transporter 8 ClinVar:SLC16A2 Ensembl:ENSG00000147100 Genatlas:SLC16A2 HGNC:10923 IUPHAR:992 OMIM:300095 Reactome:P36021 SwissProt:P36021 SLC16A2 solute carrier family 16 member 2 6q13 AST ISSD NSD SD SIALIN SLD Salla disease acidic sugar transporter infantile sialic acid storage disorder ClinVar:SLC17A5 Ensembl:ENSG00000119899 Genatlas:SLC17A5 HGNC:10933 IUPHAR:1006 OMIM:604322 Reactome:Q9NRA2 SwissProt:Q9NRA2 SLC17A5 solute carrier family 17 member 5 1q24.2 THTR1 ThT1 Thiamine transporter 1 thiamine-responsive megaloblastic anaemia ClinVar:SLC19A2 Ensembl:ENSG00000117479 Genatlas:SLC19A2 HGNC:10938 IUPHAR:1015 OMIM:603941 Reactome:O60779 SwissProt:O60779 SLC19A2 solute carrier family 19 member 2 2q36.3 THTR2 hTHTR2 thTr-2 thiamine transporter 2 ClinVar:SLC19A3 Ensembl:ENSG00000135917 Genatlas:SLC19A3 HGNC:16266 IUPHAR:1016 OMIM:606152 Reactome:Q9BZV2 SwissProt:Q9BZV2 SLC19A3 solute carrier family 19 member 3 5q31.1 OCTN2 SCD organic cation/carnitine transporter 2 systemic carnitine deficiency ClinVar:SLC22A5 Ensembl:ENSG00000197375 Genatlas:SLC22A5 HGNC:10969 IUPHAR:1023 OMIM:603377 Reactome:O76082 SwissProt:O76082 SLC22A5 solute carrier family 22 member 5 7q21.3 ARALAR2 CITRIN Calcium-binding mitochondrial carrier protein Aralar2 citrullinemia type II mitochondrial aspartate glutamate carrier 2 ClinVar:SLC25A13 Ensembl:ENSG00000004864 Genatlas:SLC25A13 HGNC:10983 IUPHAR:1055 OMIM:603859 Reactome:Q9UJS0 SwissProt:Q9UJS0 SLC25A13 solute carrier family 25 member 13 13q14.11 D13S327 Mitochondrial ornithine transporter 1 ORC1 ornithine carrier 1 ornithine transporter 1 ClinVar:SLC25A15 Ensembl:ENSG00000102743 Genatlas:SLC25A15 HGNC:10985 IUPHAR:1060 OMIM:603861 Reactome:Q9Y619 SwissProt:Q9Y619 SLC25A15 solute carrier family 25 member 15 17q25.1 DNC Deoxynucleotide carrier MUP1 Mitochondrial thiamine pyrophosphate carrier TPC mitochondrial uncoupling protein 1 ClinVar:SLC25A19 Ensembl:ENSG00000125454 Genatlas:SLC25A19 HGNC:14409 IUPHAR:1073 OMIM:606521 Reactome:Q9HC21 SwissProt:Q9HC21 SLC25A19 solute carrier family 25 member 19 3p21.31 CAC Mitochondrial carnitine/acylcarnitine carrier protein carnitine-acylcarnitine carrier carnitine/acylcarnitine translocase ClinVar:SLC25A20 Ensembl:ENSG00000178537 Genatlas:SLC25A20 HGNC:1421 IUPHAR:1076 OMIM:613698 Reactome:O43772 SwissProt:O43772 SLC25A20 solute carrier family 25 member 20 Ataxia-hearing loss-intellectual disability syndrome Reardon-Baraitser syndrome A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:G11.1 ICD-11:LD2H.Y OMIM:208850 UMLS:C4304023 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1188 Ataxia-deafness-intellectual disability syndrome ORPHA:1188 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:208850 E (Exact mapping: the two concepts are equivalent) UMLS:C4304023 E (Exact mapping: the two concepts are equivalent) 11p15.5 EIEE3 Early infantile epileptic encephalopathy 3 FLJ13044 GC-1 GC1 NET44 ClinVar:SLC25A22 Ensembl:ENSG00000177542 Genatlas:SLC25A22 HGNC:19954 IUPHAR:1058 OMIM:609302 Reactome:Q9H936 SwissProt:Q9H936 SLC25A22 solute carrier family 25 member 22 4q35.1 AAC1 ADP/ATP carrier 1 ADP/ATP translocase 1 T1 ClinVar:SLC25A4 Ensembl:ENSG00000151729 Genatlas:SLC25A4 HGNC:10990 IUPHAR:1062 OMIM:103220 Reactome:P12235 SwissProt:P12235 SLC25A4 solute carrier family 25 member 4 5q32 DTDST diastrophic dysplasia sulfate transporter ClinVar:SLC26A2 Ensembl:ENSG00000155850 Genatlas:SLC26A2 HGNC:10994 IUPHAR:1098 OMIM:606718 Reactome:P50443 SwissProt:P50443 SLC26A2 solute carrier family 26 member 2 7q22.3-q31.1 Chloride anion exchanger ClinVar:SLC26A3 Ensembl:ENSG00000091138 Genatlas:SLC26A3 HGNC:3018 IUPHAR:1099 OMIM:126650 Reactome:P40879 SwissProt:P40879 SLC26A3 solute carrier family 26 member 3 7q22.3 PDS Pendred syndrome pendrin ClinVar:SLC26A4 Ensembl:ENSG00000091137 Genatlas:SLC26A4 HGNC:8818 IUPHAR:1100 OMIM:605646 Reactome:O43511 SwissProt:O43511 SLC26A4 solute carrier family 26 member 4 20q13.12 GLUT-10 GLUT10 facilitative glucose transporter GLUT10 ClinVar:SLC2A10 Ensembl:ENSG00000197496 Genatlas:SLC2A10 HGNC:13444 IUPHAR:886 OMIM:606145 Reactome:O95528 SwissProt:O95528 SLC2A10 solute carrier family 2 member 10 3q26.2 GLUT-2 ClinVar:SLC2A2 Ensembl:ENSG00000163581 Genatlas:SLC2A2 HGNC:11006 IUPHAR:876 OMIM:138160 Reactome:P11168 SwissProt:P11168 SLC2A2 solute carrier family 2 member 2 4p15.2 NAPI-3B NAPI-IIb NPTIIb NaPi-2b NaPi2b Sodium-dependent phosphate transport protein 2B ClinVar:SLC34A2 Ensembl:ENSG00000157765 Genatlas:SLC34A2 HGNC:11020 IUPHAR:1136 OMIM:604217 Reactome:O95436 SwissProt:O95436 SLC34A2 solute carrier family 34 member 2 9q34.3 FLJ38680 NPT2C NPTIIc NaPi-2c Sodium-dependent phosphate transport protein 2C ClinVar:SLC34A3 Ensembl:ENSG00000198569 Genatlas:SLC34A3 HGNC:20305 IUPHAR:1137 OMIM:609826 Reactome:Q8N130 SwissProt:Q8N130 SLC34A3 solute carrier family 34 member 3 11p11.2 FLJ11320 FUCT1 GDP-fucose transporter 1 ClinVar:SLC35C1 Ensembl:ENSG00000181830 Genatlas:SLC35C1 HGNC:20197 IUPHAR:1147 OMIM:605881 Reactome:Q96A29 SwissProt:Q96A29 SLC35C1 solute carrier family 35 member C1 16p11.2 SERCA1 calcium pump 1 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 ClinVar:ATP2A1 Ensembl:ENSG00000196296 Genatlas:ATP2A1 HGNC:811 IUPHAR:840 OMIM:108730 Reactome:O14983 SwissProt:O14983 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 12q24.11 SERCA2 calcium pump 2 sarcoplasmic/endoplasmic reticulum calcium ATPase 2 ClinVar:ATP2A2 Ensembl:ENSG00000174437 Genatlas:ATP2A2 HGNC:812 IUPHAR:841 OMIM:108740 Reactome:P16615 SwissProt:P16615 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 3q22.1 ATP2C1A KIAA1347 PMR1 SPCA1 calcium-transporting ATPase type 2C member 1 secretory pathway Ca2+/Mn2+ ATPase 1 ClinVar:ATP2C1 Ensembl:ENSG00000017260 Genatlas:ATP2C1 HGNC:13211 IUPHAR:847 OMIM:604384 Reactome:P98194 SwissProt:P98194 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 Xp11.4 APT6M8-9 ATP6M8-9 M8-9 PRR RENR V-ATPase M8.9 subunit prorenin receptor renin receptor ClinVar:ATP6AP2 Ensembl:ENSG00000182220 Genatlas:ATP6AP2 HGNC:18305 OMIM:300556 Reactome:O75787 SwissProt:O75787 ATP6AP2 ATPase H+ transporting accessory protein 2 7q34 RDRTA2 RTADR Stv1 V-ATPase subunit a4 VPP2 Vph1 a4 vacuolar proton pump subunit 2 ClinVar:ATP6V0A4 Ensembl:ENSG00000105929 Genatlas:ATP6V0A4 HGNC:866 IUPHAR:826 OMIM:605239 Reactome:Q9HBG4 SwissProt:Q9HBG4 ATP6V0A4 ATPase H+ transporting V0 subunit a4 2p13.3 RTA1B Renal tubular acidosis with deafness V-ATPase subunit B1 VATB Vma2 ClinVar:ATP6V1B1 Ensembl:ENSG00000116039 Genatlas:ATP6V1B1 HGNC:853 IUPHAR:811 OMIM:192132 Reactome:P15313 SwissProt:P15313 ATP6V1B1 ATPase H+ transporting V1 subunit B1 Xq21.1 copper pump 1 copper-transporting ATPase 1 ClinVar:ATP7A Ensembl:ENSG00000165240 Genatlas:ATP7A HGNC:869 IUPHAR:852 OMIM:300011 Reactome:Q04656 SwissProt:Q04656 ATP7A ATPase copper transporting alpha 13q14.3 Wilson disease copper pump 2 copper-transporting ATPase 2 ClinVar:ATP7B Ensembl:ENSG00000123191 Genatlas:ATP7B HGNC:870 IUPHAR:853 OMIM:606882 Reactome:P35670 SwissProt:P35670 ATP7B ATPase copper transporting beta 18q21.31 ATPIC PFIC ClinVar:ATP8B1 Ensembl:ENSG00000081923 Genatlas:ATP8B1 HGNC:3706 IUPHAR:856 OMIM:602397 Reactome:O43520 SwissProt:O43520 ATP8B1 ATPase phospholipid transporting 8B1 17p11.2 ATP12 Atp12p LP3663 MGC29736 ClinVar:ATPAF2 Ensembl:ENSG00000171953 Genatlas:ATPAF2 HGNC:18802 OMIM:608918 Reactome:Q8N5M1 SwissProt:Q8N5M1 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 3q23 FRP1 MEC1 MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) SCKL SCKL1 ClinVar:ATR Ensembl:ENSG00000175054 Genatlas:ATR HGNC:882 IUPHAR:1935 OMIM:601215 Reactome:Q13535 SwissProt:Q13535 ATR ATR serine/threonine kinase Xq21.1 RAD54 homolog (S. cerevisiae) XH2 XNP ClinVar:ATRX Ensembl:ENSG00000085224 Genatlas:ATRX HGNC:886 OMIM:300032 Reactome:P46100 SwissProt:P46100 ATRX ATRX chromatin remodeler 6p22.3 ATX1 D6S504E ClinVar:ATXN1 Ensembl:ENSG00000124788 Genatlas:ATXN1 HGNC:10548 OMIM:601556 Reactome:P54253 SwissProt:P54253 ATXN1 ataxin 1 22q13.31 ATX10 E46L FLJ37990 ClinVar:ATXN10 Ensembl:ENSG00000130638 Genatlas:ATXN10 HGNC:10549 OMIM:611150 Reactome:Q9UBB4 SwissProt:Q9UBB4 ATXN10 ataxin 10 12q24.12 ATX2 trinucleotide repeat containing 13 ClinVar:ATXN2 Ensembl:ENSG00000204842 Genatlas:ATXN2 HGNC:10555 OMIM:601517 Reactome:Q99700 SwissProt:Q99700 ATXN2 ataxin 2 14q32.12 ATX3 JOS ClinVar:ATXN3 Ensembl:ENSG00000066427 Genatlas:ATXN3 HGNC:7106 OMIM:607047 Reactome:P54252 SwissProt:P54252 ATXN3 ataxin 3 3p14.1 ADCAII Autosomal dominant cerebellar ataxia with retinal degeneration OPCA3 SAGA associated factor 73 kDa homolog (S. cerevisiae) SGF73 ClinVar:ATXN7 Ensembl:ENSG00000163635 Genatlas:ATXN7 HGNC:10560 OMIM:607640 Reactome:O15265 SwissProt:O15265 ATXN7 ataxin 7 13q21.33 ClinVar:ATXN8 Genatlas:ATXN8 HGNC:32925 OMIM:613289 SwissProt:Q156A1 ATXN8 ataxin 8 9q22.31 ClinVar:AUH Ensembl:ENSG00000148090 Genatlas:AUH HGNC:890 OMIM:600529 Reactome:Q13825 SwissProt:Q13825 AUH AU RNA binding methylglutaconyl-CoA hydratase 20p13 ADH antidiuretic hormone copeptin diabetes insipidus neurohypophyseal neurophysin II prepro-AVP-NP II prepro-arginine-vasopressin-neurophysin II ClinVar:AVP Ensembl:ENSG00000101200 Genatlas:AVP HGNC:894 OMIM:192340 Reactome:P01185 SwissProt:P01185 AVP arginine vasopressin Xq28 V2R nephrogenic diabetes insipidus ClinVar:AVPR2 Ensembl:ENSG00000126895 Genatlas:AVPR2 HGNC:897 IUPHAR:368 OMIM:300538 Reactome:P30518 SwissProt:P30518 AVPR2 arginine vasopressin receptor 2 17q24.1 DKFZp781B0869 MGC126582 axil conductin ClinVar:AXIN2 Ensembl:ENSG00000168646 Genatlas:AXIN2 HGNC:904 IUPHAR:3237 OMIM:604025 Reactome:Q9Y2T1 SwissProt:Q9Y2T1 AXIN2 axin 2 13q12.3 B3GTL B3Glc-T beta-1,3-glucosyltransferase ClinVar:B3GALTL Ensembl:ENSG00000187676 Genatlas:B3GALTL HGNC:20207 OMIM:610308 Reactome:Q6Y288 SwissProt:Q6Y288 B3GLCT beta 3-glucosyltransferase 9p21.1 Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase N-acetyllactosamine synthase beta4Gal-T1 lactose synthase A ClinVar:B4GALT1 Ensembl:ENSG00000086062 Genatlas:B4GALT1 HGNC:924 OMIM:137060 Reactome:P15291 SwissProt:P15291 B4GALT1 beta-1,4-galactosyltransferase 1 5q35.3 XGALT-1 beta4Gal-T7 galactosyltransferase I ClinVar:B4GALT7 Ensembl:ENSG00000027847 Genatlas:B4GALT7 HGNC:930 OMIM:604327 Reactome:Q9UBV7 SwissProt:Q9UBV7 B4GALT7 beta-1,4-galactosyltransferase 7 7q11.23 WSTF Williams-Beuren syndrome chromosome region 10 Williams-Beuren syndrome chromosome region 9 transcription factor WSTF ClinVar:BAZ1B Ensembl:ENSG00000009954 Genatlas:BAZ1B HGNC:961 IUPHAR:2774 OMIM:605681 Reactome:Q9UIG0 SwissProt:Q9UIG0 BAZ1B bromodomain adjacent to zinc finger domain 1B 11q13.2 FLJ23590 ClinVar:BBS1 Ensembl:ENSG00000174483 Genatlas:BBS1 HGNC:966 OMIM:209901 Reactome:Q8NFJ9 SwissProt:Q8NFJ9 BBS1 Bardet-Biedl syndrome 1 12q21.2 FLJ23560 ClinVar:BBS10 Ensembl:ENSG00000179941 Genatlas:BBS10 HGNC:26291 OMIM:610148 Reactome:Q8TAM1 SwissProt:Q8TAM1 BBS10 Bardet-Biedl syndrome 10 16q13 ClinVar:BBS2 Ensembl:ENSG00000125124 Genatlas:BBS2 HGNC:967 OMIM:606151 Reactome:Q9BXC9 SwissProt:Q9BXC9 BBS2 Bardet-Biedl syndrome 2 15q24.1 ClinVar:BBS4 Ensembl:ENSG00000140463 Genatlas:BBS4 HGNC:969 OMIM:600374 Reactome:Q96RK4 SwissProt:Q96RK4 BBS4 Bardet-Biedl syndrome 4 2q31.1 DKFZp762I194 ClinVar:BBS5 Ensembl:ENSG00000163093 Genatlas:BBS5 HGNC:970 OMIM:603650 Reactome:Q8N3I7 SwissProt:Q8N3I7 BBS5 Bardet-Biedl syndrome 5 4q27 BBS2L1 FLJ10715 ClinVar:BBS7 Ensembl:ENSG00000138686 Genatlas:BBS7 HGNC:18758 OMIM:607590 Reactome:Q8IWZ6 SwissProt:Q8IWZ6 BBS7 Bardet-Biedl syndrome 7 7p14.3 B1 PTHB1 parathyroid hormone responsive B1 gene ClinVar:BBS9 Ensembl:ENSG00000122507 Genatlas:BBS9 HGNC:30000 OMIM:607968 Reactome:Q3SYG4 SwissProt:Q3SYG4 BBS9 Bardet-Biedl syndrome 9 3q26.1 E1 ClinVar:BCHE Ensembl:ENSG00000114200 Genatlas:BCHE HGNC:983 IUPHAR:2471 OMIM:177400 Reactome:P06276 SwissProt:P06276 BCHE butyrylcholinesterase Autosomal recessive limb-girdle muscular dystrophy type 2E Beta-sarcoglycan-related LGMD R4 Beta-sarcoglycanopathy LGMD due to beta-sarcoglycan deficiency LGMD type 2E LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2E A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C535902 OMIM:604286 UMLS:C1858593 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 ORPHA:119 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535902 E (Exact mapping: the two concepts are equivalent) OMIM:604286 E (Exact mapping: the two concepts are equivalent) UMLS:C1858593 E (Exact mapping: the two concepts are equivalent) AO1 AOI Atelosteogenesis type 1 Giant cell chondrodysplasia Spondylo-humero-femoral dysplasia A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Orphanet ICD-10:Q78.8 ICD-11:LD24.E MeSH:C535396 OMIM:108720 UMLS:C0265283 Autosomal dominant Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1190 Atelosteogenesis type I ORPHA:1190 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535396 E (Exact mapping: the two concepts are equivalent) OMIM:108720 E (Exact mapping: the two concepts are equivalent) UMLS:C0265283 E (Exact mapping: the two concepts are equivalent) 19q13.2 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial MSU maple syrup urine disease ClinVar:BCKDHA Ensembl:ENSG00000248098 Genatlas:BCKDHA HGNC:986 OMIM:608348 Reactome:P12694 SwissProt:P12694 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha 6q14.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial OVD1B maple syrup urine disease ClinVar:BCKDHB Ensembl:ENSG00000083123 Genatlas:BCKDHB HGNC:987 OMIM:248611 Reactome:P21953 SwissProt:P21953 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta 18q21.33 Bcl-2 PPP1R50 protein phosphatase 1, regulatory subunit 50 ClinVar:BCL2 Ensembl:ENSG00000171791 Genatlas:BCL2 HGNC:990 IUPHAR:2844 OMIM:151430 Reactome:P10415 SwissProt:P10415 BCL2 BCL2 apoptosis regulator Xp11.4 BCL-6 coreceptor BCL6 interacting corepressor FLJ20285 KIAA1575 ClinVar:BCOR Ensembl:ENSG00000183337 Genatlas:BCOR HGNC:20893 OMIM:300485 Reactome:Q6W2J9 SwissProt:Q6W2J9 BCOR BCL6 corepressor 22q11.23 ALL CML D22S662 PHL ClinVar:BCR Ensembl:ENSG00000186716 Genatlas:BCR HGNC:1014 IUPHAR:2755 OMIM:151410 Reactome:P11274 SwissProt:P11274 BCR BCR activator of RhoGEF and GTPase 2q35 BCS BJS Bjornstad syndrome GRACILE syndrome Hs.6719 h-BCS ClinVar:BCS1L Ensembl:ENSG00000074582 Genatlas:BCS1L HGNC:1020 OMIM:603647 Reactome:Q9Y276 SwissProt:Q9Y276 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 11p14.1 neurotrophin ClinVar:BDNF Ensembl:ENSG00000176697 Genatlas:BDNF HGNC:1033 OMIM:113505 SwissProt:P23560 BDNF brain derived neurotrophic factor 11q12.3 BEST BMD Best disease RP50 ClinVar:BEST1 Ensembl:ENSG00000167995 Genatlas:BEST1 HGNC:12703 OMIM:607854 Reactome:O76090 SwissProt:O76090 BEST1 bestrophin 1 3q22.1 CP47 CP49 LIFL-L phakinin ClinVar:BFSP2 Ensembl:ENSG00000170819 Genatlas:BFSP2 HGNC:1041 OMIM:603212 Reactome:Q13515 SwissProt:Q13515 BFSP2 beaded filament structural protein 2 19q13.32 BLOC-1 subunit 3 BLOS3 Biogenesis of Lysosome-related Organelles complex-1 Subunit 3 HPS8 Hermansky-Pudlak syndrome 8 ClinVar:BLOC1S3 Ensembl:ENSG00000189114 Genatlas:BLOC1S3 HGNC:20914 OMIM:609762 Reactome:Q6QNY0 SwissProt:Q6QNY0 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 10q23.2 ALK3 CD292 ClinVar:BMPR1A Ensembl:ENSG00000107779 Genatlas:BMPR1A HGNC:1076 IUPHAR:1786 OMIM:601299 Reactome:P36894 SwissProt:P36894 BMPR1A bone morphogenetic protein receptor type 1A 4q22.3 ALK6 CDw293 ClinVar:BMPR1B Ensembl:ENSG00000138696 Genatlas:BMPR1B HGNC:1077 IUPHAR:1789 OMIM:603248 Reactome:O00238 SwissProt:O00238 BMPR1B bone morphogenetic protein receptor type 1B 2q33.1-q33.2 BMPR-II BMPR3 BRK-3 T-ALK ClinVar:BMPR2 Ensembl:ENSG00000204217 Genatlas:BMPR2 HGNC:1078 IUPHAR:1794 OMIM:600799 Reactome:Q13873 SwissProt:Q13873 BMPR2 bone morphogenetic protein receptor type 2 7q33 ClinVar:BPGM Ensembl:ENSG00000172331 Genatlas:BPGM HGNC:1093 OMIM:613896 Reactome:P07738 SwissProt:P07738 BPGM bisphosphoglycerate mutase 7q34 BRAF-1 BRAF1 ClinVar:BRAF Ensembl:ENSG00000157764 Genatlas:BRAF HGNC:1097 IUPHAR:1943 OMIM:164757 Reactome:P15056 SwissProt:P15056 BRAF B-Raf proto-oncogene, serine/threonine kinase 17q21.31 BRCA1/BRCA2-containing complex, subunit 1 BRCC1 FANCS Fanconi anemia, complementation group S PPP1R53 RNF53 protein phosphatase 1, regulatory subunit 53 ClinVar:BRCA1 Ensembl:ENSG00000012048 Genatlas:BRCA1 HGNC:1100 OMIM:113705 Reactome:P38398 SwissProt:P38398 BRCA1 BRCA1 DNA repair associated 13q13.1 BRCA1/BRCA2-containing complex, subunit 2 BRCC2 FAD FAD1 XRCC11 ClinVar:BRCA2 Ensembl:ENSG00000139618 Genatlas:BRCA2 HGNC:1101 OMIM:600185 Reactome:P51587 SwissProt:P51587 BRCA2 BRCA2 DNA repair associated 17q23.2 BACH1 BRCA1 interacting protein 1 BRCA1-associated C-terminal helicase BRCA1/BRCA2-associated helicase 1 FANCJ FANCJ helicase OF ClinVar:BRIP1 Ensembl:ENSG00000136492 Genatlas:BRIP1 HGNC:20473 OMIM:605882 Reactome:Q9BX63 SwissProt:Q9BX63 BRIP1 BRCA1 interacting helicase 1 11q12.3 seipin ClinVar:BSCL2 Ensembl:ENSG00000168000 Genatlas:BSCL2 HGNC:15832 OMIM:606158 SwissProt:Q96G97 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin 1p32.3 BART ClinVar:BSND Ensembl:ENSG00000162399 Genatlas:BSND HGNC:16512 OMIM:606412 Reactome:Q8WZ55 SwissProt:Q8WZ55 BSND barttin CLCNK type accessory subunit beta 3p25.1 biotinase ClinVar:BTD Ensembl:ENSG00000169814 Genatlas:BTD HGNC:1122 OMIM:609019 Reactome:P43251 SwissProt:P43251 BTD biotinidase Xq22.1 ATK Bruton's tyrosine kinase PSCTK1 XLA ClinVar:BTK Ensembl:ENSG00000010671 Genatlas:BTK HGNC:1133 IUPHAR:1948 OMIM:300300 Reactome:Q06187 SwissProt:Q06187 BTK Bruton tyrosine kinase 15q15.1 BUBR1 Bub1A MAD3L SSK1 ClinVar:BUB1B Ensembl:ENSG00000156970 Genatlas:BUB1B HGNC:1149 IUPHAR:1950 OMIM:602860 Reactome:O60566 SwissProt:O60566 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 6p21.33 ClinVar:C2 Ensembl:ENSG00000166278 Genatlas:C2 HGNC:1248 OMIM:613927 Reactome:P06681 SwissProt:P06681 C2 complement C2 7p14.1 ORF20 TTDN1 tricothiodystrophy, non-photosensitive 1 ClinVar:C7orf11 Ensembl:ENSG00000168303 Genatlas:C7orf11 HGNC:16002 OMIM:609188 SwissProt:Q8TAP9 MPLKIP M-phase specific PLK1 interacting protein 8q21.2 CA-II CAII Car2 ClinVar:CA2 Ensembl:ENSG00000104267 Genatlas:CA2 HGNC:1373 IUPHAR:3092 OMIM:611492 Reactome:P00918 SwissProt:P00918 CA2 carbonic anhydrase 2 17q23.1 CAIV Car4 ClinVar:CA4 Ensembl:ENSG00000167434 Genatlas:CA4 HGNC:1375 IUPHAR:2599 OMIM:114760 Reactome:P22748 SwissProt:P22748 CA4 carbonic anhydrase 4 11q13.2 CSNB2B ClinVar:CABP4 Ensembl:ENSG00000175544 Genatlas:CABP4 HGNC:1386 OMIM:608965 SwissProt:P57796 CABP4 calcium binding protein 4 19p13.13 APCA Cav2.1 EA2 FHM HPCA ClinVar:CACNA1A Ensembl:ENSG00000141837 Genatlas:CACNA1A HGNC:1388 IUPHAR:532 OMIM:601011 Reactome:O00555 SwissProt:O00555 CACNA1A calcium voltage-gated channel subunit alpha1 A 12p13.33 CACH2 CACN2 Cav1.2 LQT8 TS ClinVar:CACNA1C Ensembl:ENSG00000151067 Genatlas:CACNA1C HGNC:1390 IUPHAR:529 OMIM:114205 Reactome:Q13936 SwissProt:Q13936 CACNA1C calcium voltage-gated channel subunit alpha1 C Xp11.23 CORDX3 CSNB2A CSNBX2 Cav1.4 JM8 JMC8 OA2 ClinVar:CACNA1F Ensembl:ENSG00000102001 Genatlas:CACNA1F HGNC:1393 IUPHAR:531 OMIM:300110 Reactome:O60840 SwissProt:O60840 CACNA1F calcium voltage-gated channel subunit alpha1 F 1q32.1 Cav1.1 hypoPP ClinVar:CACNA1S Ensembl:ENSG00000081248 Genatlas:CACNA1S HGNC:1397 IUPHAR:528 OMIM:114208 Reactome:Q13698 SwissProt:Q13698 CACNA1S calcium voltage-gated channel subunit alpha1 S 10p12 ClinVar:CACNB2 Ensembl:ENSG00000165995 Genatlas:CACNB2 HGNC:1402 OMIM:600003 Reactome:Q08289 SwissProt:Q08289 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 2q23.3 EJM4 ClinVar:CACNB4 Ensembl:ENSG00000182389 Genatlas:CACNB4 HGNC:1404 OMIM:601949 Reactome:O00305 SwissProt:O00305 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 15q15.1 CANP3 nCL-1 p94 ClinVar:CAPN3 Ensembl:ENSG00000092529 Genatlas:CAPN3 HGNC:1480 OMIM:114240 Reactome:P20807 SwissProt:P20807 CAPN3 calpain 3 2q33.1 FAS-associated death domain protein interleukin-1B-converting enzyme 2 FLICE-2 MCH4 ClinVar:CASP10 Ensembl:ENSG00000003400 Genatlas:CASP10 HGNC:1500 IUPHAR:1626 OMIM:601762 Reactome:Q92851 SwissProt:Q92851 CASP10 caspase 10 1p13.1 PDIB2 ClinVar:CASQ2 Ensembl:ENSG00000118729 Genatlas:CASQ2 HGNC:1513 OMIM:114251 Reactome:O14958 SwissProt:O14958 CASQ2 calsequestrin 2 3q13.33-q21.1 FHH GPRC2A NSHPT severe neonatal hyperparathyroidism ClinVar:CASR Ensembl:ENSG00000036828 Genatlas:CASR HGNC:1514 IUPHAR:54 OMIM:601199 Reactome:P41180 SwissProt:P41180 CASR calcium sensing receptor 11p13 ClinVar:CAT Ensembl:ENSG00000121691 Genatlas:CAT HGNC:1516 IUPHAR:2979 OMIM:115500 Reactome:P04040 SwissProt:P04040 CAT catalase 3p25.3 LGMD1C LQT9 M-caveolin VIP-21 VIP21 ClinVar:CAV3 Ensembl:ENSG00000182533 Genatlas:CAV3 HGNC:1529 OMIM:601253 Reactome:P56539 SwissProt:P56539 CAV3 caveolin 3 21q22.3 HIP4 ClinVar:CBS Ensembl:ENSG00000160200 Genatlas:CBS HGNC:1550 IUPHAR:1443 OMIM:613381 Reactome:P35520 SwissProt:P35520 CBS cystathionine beta-synthase Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome Feigenbaum-Bergeron-Richardson syndrome A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:I70.9 ICD-11:LD2H.Y MeSH:C536178 OMIM:209010 UMLS:C2931125 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192 ICD-10:I70.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536178 E (Exact mapping: the two concepts are equivalent) OMIM:209010 E (Exact mapping: the two concepts are equivalent) UMLS:C2931125 E (Exact mapping: the two concepts are equivalent) 19p13.12 Aki-1 Akt Kinase-Interacting Protein 1 FLJ20241 Five prime repressor element under dual repression-binding protein 1 Freud-1 Lgd2 MRT3 TAPE TBK1-associated protein in endolysosomes lethal (2) giant discs homolog 2 mental retardation, nonsyndromic, autosomal recessive, 3 ClinVar:CC2D1A Ensembl:ENSG00000132024 Genatlas:CC2D1A HGNC:30237 OMIM:610055 SwissProt:Q6P1N0 CC2D1A coiled-coil and C2 domain containing 1A 10q21.2 DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1 H4 PTC PTC1 TPC thyroid papillary carcinoma ClinVar:CCDC6 Ensembl:ENSG00000108091 Genatlas:CCDC6 HGNC:18782 OMIM:601985 SwissProt:Q16204 CCDC6 coiled-coil domain containing 6 7p13 MGC4607 OSM malcavernin osmosensing scaffold for MEKK3 ClinVar:CCM2 Ensembl:ENSG00000136280 Genatlas:CCM2 HGNC:21708 OMIM:607929 SwissProt:Q9BSQ5 CCM2 CCM2 scaffold protein 11q13.3 B-cell CLL/lymphoma 1 G1/S-specific cyclin D1 U21B31 parathyroid adenomatosis 1 ClinVar:CCND1 Ensembl:ENSG00000110092 Genatlas:CCND1 HGNC:1582 OMIM:168461 Reactome:P24385 SwissProt:P24385 CCND1 cyclin D1 5p15.2 CCT-epsilon CCTE KIAA0098 ClinVar:CCT5 Ensembl:ENSG00000150753 Genatlas:CCT5 HGNC:1618 OMIM:610150 Reactome:P48643 SwissProt:P48643 CCT5 chaperonin containing TCP1 subunit 5 16p11.2 ClinVar:CD19 Ensembl:ENSG00000177455 Genatlas:CD19 HGNC:1633 IUPHAR:2764 OMIM:107265 Reactome:P15391 SwissProt:P15391 CD19 CD19 molecule 20q13.12 Bp50 p50 ClinVar:CD40 Ensembl:ENSG00000101017 Genatlas:CD40 HGNC:11919 IUPHAR:1874 OMIM:109535 Reactome:P25942 SwissProt:P25942 CD40 CD40 molecule Xq26.3 CD154 CD40 antigen ligand CD40-L CD40L T-B cell-activating molecule T-BAM TNF-related activation protein TRAP gp39 hCD40L hyper-IgM syndrome tumor necrosis factor (ligand) superfamily member 5 ClinVar:CD40LG Ensembl:ENSG00000102245 Genatlas:CD40LG HGNC:11935 OMIM:300386 Reactome:P29965 SwissProt:P29965 CD40LG CD40 ligand 1q32.2 MGC26544 TLX TRA2.10 trophoblast-lymphocyte cross-reactive antigen ClinVar:CD46 Ensembl:ENSG00000117335 Genatlas:CD46 HGNC:6953 OMIM:120920 Reactome:P15529 SwissProt:P15529 CD46 CD46 molecule 15q15.2 CDA-I CDAI ClinVar:CDAN1 Ensembl:ENSG00000140326 Genatlas:CDAN1 HGNC:1713 OMIM:607465 Reactome:Q8IWY9 SwissProt:Q8IWY9 CDAN1 codanin 1 1q31.2 FIHP Paf1/RNA polymerase II complex component parafibromin ClinVar:CDC73 Ensembl:ENSG00000134371 Genatlas:CDC73 HGNC:16783 OMIM:607393 Reactome:Q6P1J9 SwissProt:Q6P1J9 CDC73 cell division cycle 73 16q22.1 CD324 E-Cadherin uvomorulin ClinVar:CDH1 Ensembl:ENSG00000039068 Genatlas:CDH1 HGNC:1748 OMIM:192090 Reactome:P12830 SwissProt:P12830 CDH1 cadherin 1 10q22.1 CDHR23 cadherin-related family member 23 ClinVar:CDH23 Ensembl:ENSG00000107736 Genatlas:CDH23 HGNC:13733 OMIM:605516 SwissProt:Q9H251 CDH23 cadherin related 23 16q22.1 CDHP P-cadherin PCAD ClinVar:CDH3 Ensembl:ENSG00000062038 Genatlas:CDH3 HGNC:1762 OMIM:114021 Reactome:P22223 SwissProt:P22223 CDH3 cadherin 3 12q14.1 PSK-J3 ClinVar:CDK4 Ensembl:ENSG00000135446 Genatlas:CDK4 HGNC:1773 IUPHAR:1976 OMIM:123829 Reactome:P11802 SwissProt:P11802 CDK4 cyclin dependent kinase 4 9q33.2 C48 CEP215 FLJ10867 centrosomin ClinVar:CDK5RAP2 Ensembl:ENSG00000136861 Genatlas:CDK5RAP2 HGNC:18672 OMIM:608201 Reactome:Q96SN8 SwissProt:Q96SN8 CDK5RAP2 CDK5 regulatory subunit associated protein 2 Xp22.13 CFAP247 EIEE2 ClinVar:CDKL5 Ensembl:ENSG00000008086 Genatlas:CDKL5 HGNC:11411 IUPHAR:1986 OMIM:300203 Reactome:O76039 SwissProt:O76039 CDKL5 cyclin dependent kinase like 5 X-linked intellectual disability, Atkin type A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Orphanet ICD-10:Q87.8 MeSH:C538195 OMIM:300431 UMLS:C0796206 X-linked dominant Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1193 Atkin-Flaitz syndrome ORPHA:1193 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538195 E (Exact mapping: the two concepts are equivalent) OMIM:300431 E (Exact mapping: the two concepts are equivalent) UMLS:C0796206 E (Exact mapping: the two concepts are equivalent) 11p15.4 KIP2 P57 ClinVar:CDKN1C Ensembl:ENSG00000129757 Genatlas:CDKN1C HGNC:1786 OMIM:600856 Reactome:P49918 SwissProt:P49918 CDKN1C cyclin dependent kinase inhibitor 1C 9p21.3 ARF CAI2 CDK4I CDKN2A/ARF Intron 2 lncRNA CMM2 INK4 INK4a MTS1 P16-INK4A cyclin-dependent kinase 4 inhibitor A inhibitor of cdk4 A multiple tumour suppressor 1 p14 p14 alternate open reading frame p14ARF p16 p16INK4a p19 p19 alternate open reading frame p19Arf ClinVar:CDKN2A Ensembl:ENSG00000147889 Genatlas:CDKN2A HGNC:1787 OMIM:600160 Reactome:P42771 SwissProt:P42771 CDKN2A cyclin dependent kinase inhibitor 2A 6p21.33 D6S586E ClinVar:CDSN Ensembl:ENSG00000204539 Genatlas:CDSN HGNC:1802 OMIM:602593 Reactome:Q15517 SwissProt:Q15517 CDSN corneodesmosin 9q34.13 BSSL MODY8 bile salt-stimulated lipase ClinVar:CEL Ensembl:ENSG00000170835 Genatlas:CEL HGNC:1848 IUPHAR:2872 OMIM:114840 Reactome:P19835 SwissProt:P19835 CEL carboxyl ester lipase 13q12.12-q12.13 BM032 CPAP LAG-3-associated protein LAP LIP1 SASS4 SCKL4 Sas-4 Seckel syndrome 4 Spindle assembly abnormal 4 centrosomal P4.1-associated protein ClinVar:CENPJ Ensembl:ENSG00000151849 Genatlas:CENPJ HGNC:17272 OMIM:609279 Reactome:Q9HC77 SwissProt:Q9HC77 CENPJ centromere protein J 12q21.32 3H11Ag BBS14 Bardet-Biedl syndrome 14 CT87 FLJ13615 JBTS5 Joubert syndrome 5 KIAA0373 LCA10 MKS4 Meckel syndrome, type 4 NPHP6 POC3 POC3 centriolar protein homolog (Chlamydomonas) SLSN6 cancer/testis antigen 87 nephrocystin-6 rd16 ClinVar:CEP290 Ensembl:ENSG00000198707 Genatlas:CEP290 HGNC:29021 OMIM:610142 Reactome:O15078 SwissProt:O15078 CEP290 centrosomal protein 290 2q31.3 ClinVar:CERKL Ensembl:ENSG00000188452 Genatlas:CERKL HGNC:21699 OMIM:608381 SwissProt:Q49MI3 CERKL ceramide kinase like 16q13 BPI fold containing family F BPIFF ClinVar:CETP Ensembl:ENSG00000087237 Genatlas:CETP HGNC:1869 IUPHAR:3248 OMIM:118470 Reactome:P11597 SwissProt:P11597 CETP cholesteryl ester transfer protein 2q21.1 CRYPTIC ClinVar:CFC1 Ensembl:ENSG00000136698 Genatlas:CFC1 HGNC:18292 OMIM:605194 Reactome:P0CG37 SwissProt:P0CG37 CFC1 cryptic, EGF-CFC family member 1 1q31.3 ARMD4 ARMS1 FHL1 H factor 2 (complement) HUS age-related maculopathy susceptibility 1 beta-1H ClinVar:CFH Ensembl:ENSG00000000971 Genatlas:CFH HGNC:4883 OMIM:134370 Reactome:P08603 SwissProt:P08603 CFH complement factor H 4q25 C3b-INA C3b-inactivator FI KAF Konglutinogen-activating factor ClinVar:CFI Ensembl:ENSG00000205403 Genatlas:CFI HGNC:5394 OMIM:217030 Reactome:P05156 SwissProt:P05156 CFI complement factor I 14q13.1 NEM7 nemaline myopathy type 7 ClinVar:CFL2 Ensembl:ENSG00000165410 Genatlas:CFL2 HGNC:1875 OMIM:601443 Reactome:Q9Y281 SwissProt:Q9Y281 CFL2 cofilin 2 Xp11.23 ClinVar:CFP Ensembl:ENSG00000126759 Genatlas:CFP HGNC:8864 OMIM:300383 Reactome:P27918 SwissProt:P27918 CFP complement factor properdin 7q31.2 ABC35 ATP-binding cassette sub-family C, member 7 CFTR/MRP MRP7 TNR-CFTR dJ760C5.1 ClinVar:CFTR Ensembl:ENSG00000001626 Genatlas:CFTR HGNC:1884 IUPHAR:707 OMIM:602421 Reactome:P13569 SwissProt:P13569 CFTR CF transmembrane conductance regulator 10q11.23 ClinVar:CHAT Ensembl:ENSG00000070748 Genatlas:CHAT HGNC:1912 IUPHAR:2480 OMIM:118490 Reactome:P28329 SwissProt:P28329 CHAT choline O-acetyltransferase 8q12.2 FLJ20357 FLJ20361 KIAA1416 ClinVar:CHD7 Ensembl:ENSG00000171316 Genatlas:CHD7 HGNC:20626 OMIM:608892 SwissProt:Q9P2D1 CHD7 chromodomain helicase DNA binding protein 7 22q12.1 CDS1 CHK2 HuCds1 PP1425 bA444G7 ClinVar:CHEK2 Ensembl:ENSG00000183765 Genatlas:CHEK2 HGNC:16627 IUPHAR:1988 OMIM:604373 Reactome:O96017 SwissProt:O96017 CHEK2 checkpoint kinase 2 Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Orphanet ICD-10:G71.3 ICD-11:5C53.2Y OMIM:614052 UMLS:C4273660 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1194 TMEM70-related mitochondrial encephalo-cardio-myopathy ORPHA:1194 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614052 E (Exact mapping: the two concepts are equivalent) UMLS:C4273660 E (Exact mapping: the two concepts are equivalent) Xq21.2 REP-1 Rab escort protein 1 ClinVar:CHM Ensembl:ENSG00000188419 Genatlas:CHM HGNC:1940 OMIM:300390 Reactome:P24386 SwissProt:P24386 CHM CHM Rab escort protein 3p11.2 CHMP2.5 DKFZP564O123 VPS2 homolog B (S. cerevisiae) VPS2B ClinVar:CHMP2B Ensembl:ENSG00000083937 Genatlas:CHMP2B HGNC:24537 OMIM:609512 Reactome:Q9UQN3 SwissProt:Q9UQN3 CHMP2B charged multivesicular body protein 2B 2q31.1 acetylcholine receptor, nicotinic, alpha 1 (muscle) ClinVar:CHRNA1 Ensembl:ENSG00000138435 Genatlas:CHRNA1 HGNC:1955 IUPHAR:462 OMIM:100690 Reactome:P02708 SwissProt:P02708 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit 20q13.33 BFNC acetylcholine receptor, nicotinic, alpha 4 (neuronal) ClinVar:CHRNA4 Ensembl:ENSG00000101204 Genatlas:CHRNA4 HGNC:1958 IUPHAR:465 OMIM:118504 Reactome:P43681 SwissProt:P43681 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit 17p13.1 acetylcholine receptor, nicotinic, beta 1 (muscle) ClinVar:CHRNB1 Ensembl:ENSG00000170175 Genatlas:CHRNB1 HGNC:1961 IUPHAR:471 OMIM:100710 SwissProt:P11230 CHRNB1 cholinergic receptor nicotinic beta 1 subunit 2q37.1 acetylcholine receptor, nicotinic, delta (muscle) ClinVar:CHRND Ensembl:ENSG00000135902 Genatlas:CHRND HGNC:1965 IUPHAR:476 OMIM:100720 Reactome:Q07001 SwissProt:Q07001 CHRND cholinergic receptor nicotinic delta subunit 17p13.2 ACHRE acetylcholine receptor, nicotinic, epsilon (muscle) ClinVar:CHRNE Ensembl:ENSG00000108556 Genatlas:CHRNE HGNC:1966 IUPHAR:477 OMIM:100725 Reactome:Q04844 SwissProt:Q04844 CHRNE cholinergic receptor nicotinic epsilon subunit 2q37.1 acetylcholine receptor, nicotinic, gamma (muscle) ClinVar:CHRNG Ensembl:ENSG00000196811 Genatlas:CHRNG HGNC:1967 IUPHAR:475 OMIM:100730 Reactome:P07510 SwissProt:P07510 CHRNG cholinergic receptor nicotinic gamma subunit 10q22.1 C6ST C6ST1 chondroitin 6 sulfotransferase 1 ClinVar:CHST3 Ensembl:ENSG00000122863 Genatlas:CHST3 HGNC:1971 OMIM:603799 Reactome:Q7LGC8 SwissProt:Q7LGC8 CHST3 carbohydrate sulfotransferase 3 16q23.1 ClinVar:CHST6 Ensembl:ENSG00000183196 Genatlas:CHST6 HGNC:6938 OMIM:605294 Reactome:Q9GZX3 SwissProt:Q9GZX3 CHST6 carbohydrate sulfotransferase 6 16p13.13 C2TA NLR family, acid domain containing NLRA nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing ClinVar:CIITA Ensembl:ENSG00000179583 Genatlas:CIITA HGNC:7067 IUPHAR:1767 OMIM:600005 Reactome:P33076 SwissProt:P33076 CIITA class II major histocompatibility complex transactivator 7q34 CLC1 ClC-1 Thomsen disease, autosomal dominant ClinVar:CLCN1 Ensembl:ENSG00000188037 Genatlas:CLCN1 HGNC:2019 IUPHAR:698 OMIM:118425 Reactome:P35523 SwissProt:P35523 CLCN1 chloride voltage-gated channel 1 Xp11.23 CLC5 ClC-5 DENTS Dent disease XLRH XRN hCIC-K2 hClC-K2 ClinVar:CLCN5 Ensembl:ENSG00000171365 Genatlas:CLCN5 HGNC:2023 IUPHAR:704 OMIM:300008 Reactome:P51795 SwissProt:P51795 CLCN5 chloride voltage-gated channel 5 16p13.3 CLC-7 CLC7 ClC-7 OPTA2 PPP1R63 protein phosphatase 1, regulatory subunit 63 ClinVar:CLCN7 Ensembl:ENSG00000103249 Genatlas:CLCN7 HGNC:2025 IUPHAR:706 OMIM:602727 Reactome:P51798 SwissProt:P51798 CLCN7 chloride voltage-gated channel 7 1p36.13 CLCKB Chloride channel protein ClC-Kb ClC-K2 ClC-Kb hClC-Kb ClinVar:CLCNKB Ensembl:ENSG00000184908 Genatlas:CLCNKB HGNC:2027 IUPHAR:701 OMIM:602023 Reactome:P51801 SwissProt:P51801 CLCNKB chloride voltage-gated channel Kb 3q28 ILVASC SEMP1 senescence-associated epithelial membrane protein 1 ClinVar:CLDN1 Ensembl:ENSG00000163347 Genatlas:CLDN1 HGNC:2032 OMIM:603718 Reactome:O95832 SwissProt:O95832 CLDN1 claudin 1 11q23.3 G6PT GSD1b GSD1c GSD1d Glucose-6-phosphate exchanger SLC37A4 SPX4 glucose-6-phosphatase transporter sugar-phosphate exchange protein 4 ClinVar:SLC37A4 Ensembl:ENSG00000137700 Genatlas:SLC37A4 HGNC:4061 IUPHAR:1168 OMIM:602671 Reactome:O43826 SwissProt:O43826 SLC37A4 solute carrier family 37 member 4 8q24.3 AWMS2 ZIP-4 ZIP4 ZRT/IRT-like protein 4 Zinc transporter ZIP4 zinc transporter 4 ClinVar:SLC39A4 Ensembl:ENSG00000147804 Genatlas:SLC39A4 HGNC:17129 IUPHAR:1183 OMIM:607059 Reactome:Q6P5W5 SwissProt:Q6P5W5 SLC39A4 solute carrier family 39 member 4 2q32.2 FPN FPN1 HFE4 IREG1 MTP1 SLC40 iron transporter ferroportin 1 iron regulated gene 1 ClinVar:SLC40A1 Ensembl:ENSG00000138449 Genatlas:SLC40A1 HGNC:10909 IUPHAR:1194 OMIM:604653 Reactome:Q9NP59 SwissProt:Q9NP59 SLC40A1 solute carrier family 40 member 1 Congenital hypotransferrinemia Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. Orphanet ICD-10:E88.0 ICD-11:5D0Y MeSH:C538259 OMIM:209300 UMLS:C0521802 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1195 Congenital atransferrinemia ORPHA:1195 ICD-10:E88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5D0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538259 E (Exact mapping: the two concepts are equivalent) OMIM:209300 E (Exact mapping: the two concepts are equivalent) UMLS:C0521802 E (Exact mapping: the two concepts are equivalent) 1q21.3 ADAR1 DRADA Double-stranded RNA-specific adenosine deaminase ClinVar:ADAR Ensembl:ENSG00000160710 Genatlas:ADAR HGNC:225 OMIM:146920 Reactome:P55265 SwissProt:P55265 ADAR adenosine deaminase RNA specific 22q13.1 ClinVar:ADSL Ensembl:ENSG00000239900 Genatlas:ADSL HGNC:291 OMIM:608222 Reactome:P30566 SwissProt:P30566 ADSL adenylosuccinate lyase Xq28 FRAXE ClinVar:AFF2 Ensembl:ENSG00000155966 Genatlas:AFF2 HGNC:3776 OMIM:300806 SwissProt:P51816 AFF2 ALF transcription elongation factor 2 4q34.3 ASRG N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase glycosylasparaginase ClinVar:AGA Ensembl:ENSG00000038002 Genatlas:AGA HGNC:318 OMIM:613228 Reactome:P20933 SwissProt:P20933 AGA aspartylglucosaminidase 5q13.3 FLJ10283 GPATC7 GPATCH7 HSU84971 VG5Q ClinVar:AGGF1 Ensembl:ENSG00000164252 Genatlas:AGGF1 HGNC:24684 OMIM:608464 Reactome:Q8N302 SwissProt:Q8N302 AGGF1 angiogenic factor with G-patch and FHA domains 1 1p21.2 GDE glycogen debranching enzyme glycogen storage disease type III ClinVar:AGL Ensembl:ENSG00000162688 Genatlas:AGL HGNC:321 OMIM:610860 Reactome:P35573 SwissProt:P35573 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 9q34.3 1-acyl-sn-glycerol-3-phosphate acyltransferase beta LPAAT-beta LPLAT2 lysophosphatidic acid acyltransferase, beta lysophosphatidic acid acyltransferase-beta lysophospholipid acyltransferase 2 ClinVar:AGPAT2 Ensembl:ENSG00000169692 Genatlas:AGPAT2 HGNC:325 OMIM:603100 Reactome:O15120 SwissProt:O15120 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 2q31.2 ADAP-S ADAS ADHAPS ADPS ALDHPSY Alkyldihydroxyacetonephosphate synthase, peroxisomal ClinVar:AGPS Ensembl:ENSG00000018510 Genatlas:AGPS HGNC:327 OMIM:603051 Reactome:O00116 SwissProt:O00116 AGPS alkylglycerone phosphate synthase 1q42.2 alpha-1 antiproteinase, antitrypsin ClinVar:AGT Ensembl:ENSG00000135744 Genatlas:AGT HGNC:333 OMIM:106150 Reactome:P01019 SwissProt:P01019 AGT angiotensinogen 2q37.3 AGT AGT1 AGXT1 L-alanine: glyoxylate aminotransferase 1 PH1 SPT Ser-PyrAT TLH6 glycolicaciduria oxalosis I primary hyperoxaluria type 1 serine:pyruvate aminotransferase ClinVar:AGXT Ensembl:ENSG00000172482 Genatlas:AGXT HGNC:341 OMIM:604285 Reactome:P21549 SwissProt:P21549 AGXT alanine--glyoxylate aminotransferase 20q11.22 AdoHcyase SAHH ClinVar:AHCY Ensembl:ENSG00000101444 Genatlas:AHCY HGNC:343 IUPHAR:1233 OMIM:180960 Reactome:P23526 SwissProt:P23526 AHCY adenosylhomocysteinase 6q23.3 FLJ20069 JBTS3 Jouberin ORF1 ClinVar:AHI1 Ensembl:ENSG00000135541 Genatlas:AHI1 HGNC:21575 OMIM:608894 Reactome:Q8N157 SwissProt:Q8N157 AHI1 Abelson helper integration site 1 12p13.31 AID ARP2 CDA2 HIGM2 ClinVar:AICDA Ensembl:ENSG00000111732 Genatlas:AICDA HGNC:13203 OMIM:605257 Reactome:Q9GZX7 SwissProt:Q9GZX7 AICDA activation induced cytidine deaminase 17p13.2 ClinVar:AIPL1 Ensembl:ENSG00000129221 Genatlas:AIPL1 HGNC:359 OMIM:604392 Reactome:Q9NZN9 SwissProt:Q9NZN9 AIPL1 aryl hydrocarbon receptor interacting protein like 1 21q22.3 APS1 PGA1 autoimmune polyendocrinopathy candidiasis ectodermal dystrophy ClinVar:AIRE Ensembl:ENSG00000160224 Genatlas:AIRE HGNC:360 OMIM:607358 Reactome:O43918 SwissProt:O43918 AIRE autoimmune regulator 9q34.11 ClinVar:AK1 Ensembl:ENSG00000106992 Genatlas:AK1 HGNC:361 OMIM:103000 Reactome:P00568 SwissProt:P00568 AK1 adenylate kinase 1 9q32 ALADH PBGS porphobilinogen synthase ClinVar:ALAD Ensembl:ENSG00000148218 Genatlas:ALAD HGNC:395 OMIM:125270 Reactome:P13716 SwissProt:P13716 ALAD aminolevulinate dehydratase Xp11.21 ALAS-E erythroid-specific delta-aminolevulinate synthase sideroblastic/hypochromic anemia ClinVar:ALAS2 Ensembl:ENSG00000158578 Genatlas:ALAS2 HGNC:397 OMIM:301300 Reactome:P22557 SwissProt:P22557 ALAS2 5'-aminolevulinate synthase 2 4q13.3 ClinVar:ALB Ensembl:ENSG00000163631 Genatlas:ALB HGNC:399 OMIM:103600 Reactome:P02768 SwissProt:P02768 ALB albumin 10q24.1 P5CS delta-1-pyrroline-5-carboxylate synthase ClinVar:ALDH18A1 Ensembl:ENSG00000059573 Genatlas:ALDH18A1 HGNC:9722 OMIM:138250 Reactome:P54886 SwissProt:P54886 ALDH18A1 aldehyde dehydrogenase 18 family member A1 17p11.2 FALDH fatty aldehyde dehydrogenase ClinVar:ALDH3A2 Ensembl:ENSG00000072210 Genatlas:ALDH3A2 HGNC:403 OMIM:609523 Reactome:P51648 SwissProt:P51648 ALDH3A2 aldehyde dehydrogenase 3 family member A2 1p36.13 Delta-1-pyrroline-5-carboxylate dehydrogenase L-glutamate gamma-semialdehyde dehydrogenase P5CDh ClinVar:ALDH4A1 Ensembl:ENSG00000159423 Genatlas:ALDH4A1 HGNC:406 OMIM:606811 Reactome:P30038 SwissProt:P30038 ALDH4A1 aldehyde dehydrogenase 4 family member A1 6p22.3 SSADH SSDH succinate-semialdehyde dehydrogenase ClinVar:ALDH5A1 Ensembl:ENSG00000112294 Genatlas:ALDH5A1 HGNC:408 IUPHAR:2466 OMIM:610045 Reactome:P51649 SwissProt:P51649 ALDH5A1 aldehyde dehydrogenase 5 family member A1 5q23.2 26g turgor protein homolog EPD P6c dehydrogenase PDE alpha-AASA dehydrogenase alpha-aminoadipic semialdehyde dehydrogenase antiquitin 1 delta1-piperideine-6-carboxylate dehydrogenease ClinVar:ALDH7A1 Ensembl:ENSG00000164904 Genatlas:ALDH7A1 HGNC:877 OMIM:107323 Reactome:P49419 SwissProt:P49419 ALDH7A1 aldehyde dehydrogenase 7 family member A1 16p11.2 ClinVar:ALDOA Ensembl:ENSG00000149925 Genatlas:ALDOA HGNC:414 OMIM:103850 Reactome:P04075 SwissProt:P04075 ALDOA aldolase, fructose-bisphosphate A 9q31.1 ClinVar:ALDOB Ensembl:ENSG00000136872 Genatlas:ALDOB HGNC:417 OMIM:612724 Reactome:P05062 SwissProt:P05062 ALDOB aldolase, fructose-bisphosphate B 16p13.3 CDG1K HMAT1 HMT-1 Mat-1 ClinVar:ALG1 Ensembl:ENSG00000033011 Genatlas:ALG1 HGNC:18294 OMIM:605907 Reactome:Q9BT22 SwissProt:Q9BT22 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 22q13.33 CDG1G ECM39 dol-P-Man dependent alpha-1,6-mannosyltransferase dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase ClinVar:ALG12 Ensembl:ENSG00000182858 Genatlas:ALG12 HGNC:19358 OMIM:607144 Reactome:Q9BV10 SwissProt:Q9BV10 ALG12 ALG12 alpha-1,6-mannosyltransferase 9q22.33 CDG1I CDGIi FLJ14511 NET38 hALPG2 ClinVar:ALG2 Ensembl:ENSG00000119523 Genatlas:ALG2 HGNC:23159 OMIM:607905 Reactome:Q9H553 SwissProt:Q9H553 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase 3q27.1 CDGS4 D16Ertd36e NOT56L Not56 carbohydrate deficient glycoprotein syndrome type IV dol-P-Man dependent alpha-1,3- mannosyltransferase dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase ClinVar:ALG3 Ensembl:ENSG00000214160 Genatlas:ALG3 HGNC:23056 OMIM:608750 Reactome:Q92685 SwissProt:Q92685 ALG3 ALG3 alpha-1,3- mannosyltransferase 1p31.3 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase ClinVar:ALG6 Ensembl:ENSG00000088035 Genatlas:ALG6 HGNC:23157 OMIM:604566 Reactome:Q9Y672 SwissProt:Q9Y672 ALG6 ALG6 alpha-1,3-glucosyltransferase 11q14.1 MGC2840 dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase ClinVar:ALG8 Ensembl:ENSG00000159063 Genatlas:ALG8 HGNC:23161 OMIM:608103 Reactome:Q9BVK2 SwissProt:Q9BVK2 ALG8 ALG8 alpha-1,3-glucosyltransferase 11q23.1 dol-P-Man dependent alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase ClinVar:ALG9 Ensembl:ENSG00000086848 Genatlas:ALG9 HGNC:15672 OMIM:606941 Reactome:Q9H6U8 SwissProt:Q9H6U8 ALG9 ALG9 alpha-1,2-mannosyltransferase 2p13.1 KIAA0328 ClinVar:ALMS1 Ensembl:ENSG00000116127 Genatlas:ALMS1 HGNC:428 OMIM:606844 Reactome:Q8TCU4 SwissProt:Q8TCU4 ALMS1 ALMS1 centrosome and basal body associated protein 17p13.1 12R-LOX 12R-lipoxygenase ClinVar:ALOX12B Ensembl:ENSG00000179477 Genatlas:ALOX12B HGNC:430 IUPHAR:1386 OMIM:603741 Reactome:O75342 SwissProt:O75342 ALOX12B arachidonate 12-lipoxygenase, 12R type 17p13.1 E-LOX Epidermal lipoxygenase-3 eLOX3 hydroperoxide isomerase ClinVar:ALOXE3 Ensembl:ENSG00000179148 Genatlas:ALOXE3 HGNC:13743 IUPHAR:1390 OMIM:607206 Reactome:Q9BYJ1 SwissProt:Q9BYJ1 ALOXE3 arachidonate lipoxygenase 3 1p36.12 TNALP TNAP TNSALP tissue non-specific alkaline phosphatase ClinVar:ALPL Ensembl:ENSG00000162551 Genatlas:ALPL HGNC:438 OMIM:171760 Reactome:P05186 SwissProt:P05186 ALPL alkaline phosphatase, biomineralization associated 2q33.1 alsin ClinVar:ALS2 Ensembl:ENSG00000003393 Genatlas:ALS2 HGNC:443 OMIM:606352 Reactome:Q96Q42 SwissProt:Q96Q42 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 11p11.2 FPP KIAA1788 PFM ClinVar:ALX4 Ensembl:ENSG00000052850 Genatlas:ALX4 HGNC:450 OMIM:605420 SwissProt:Q9H161 ALX4 ALX homeobox 4 Xp22.2 amelogenesis imperfecta 1 ClinVar:AMELX Ensembl:ENSG00000125363 Genatlas:AMELX HGNC:461 OMIM:300391 Reactome:Q99217 SwissProt:Q99217 AMELX amelogenin X-linked 19p13.3 MIF MIS Muellerian-inhibiting factor Muellerian-inhibiting substance ClinVar:AMH Ensembl:ENSG00000104899 Genatlas:AMH HGNC:464 OMIM:600957 Reactome:P03971 SwissProt:P03971 AMH anti-Mullerian hormone 12q13.13 MISR2 MISRII Muellerian inhibiting substance type II receptor ClinVar:AMHR2 Ensembl:ENSG00000135409 Genatlas:AMHR2 HGNC:465 IUPHAR:1793 OMIM:600956 Reactome:Q16671 SwissProt:Q16671 AMHR2 anti-Mullerian hormone receptor type 2 Xq23 ClinVar:AMMECR1 Ensembl:ENSG00000101935 Genatlas:AMMECR1 HGNC:467 OMIM:300195 Reactome:Q9Y4X0 SwissProt:Q9Y4X0 AMMECR1 AMMECR nuclear protein 1 5p13.2 AIM-1 OCA4 antigen in melanoma 1 oculocutaneous albinism type 4 ClinVar:SLC45A2 Ensembl:ENSG00000164175 Genatlas:SLC45A2 HGNC:16472 IUPHAR:1210 OMIM:606202 Reactome:Q9UMX9 SwissProt:Q9UMX9 SLC45A2 solute carrier family 45 member 2 17q21.31 Band 3 anion transport protein CD233 EMPB3 FR Froese blood group RTA1A SW Swann blood group WR Wright blood group ClinVar:SLC4A1 Ensembl:ENSG00000004939 Genatlas:SLC4A1 HGNC:11027 IUPHAR:904 OMIM:109270 Reactome:P02730 SwissProt:P02730 SLC4A1 solute carrier family 4 member 1 (Diego blood group) 20p13 BTR1 FECD4 NaBC1 bicarbonate transporter related protein 1 dJ794I6.2 sodium-coupled borate cotransporter 1 ClinVar:SLC4A11 Ensembl:ENSG00000088836 Genatlas:SLC4A11 HGNC:16438 IUPHAR:913 OMIM:610206 SwissProt:Q8NBS3 SLC4A11 solute carrier family 4 member 11 4q13.3 Electrogenic sodium bicarbonate cotransporter 1 HNBC1 KNBC NBC1 NBC2 NBCe1 hhNMC kNBC1 kidney type Na+/HCO3- cotransporter pNBC pancreatic sodium bicarbonate cotransporter ClinVar:SLC4A4 Ensembl:ENSG00000080493 Genatlas:SLC4A4 HGNC:11030 IUPHAR:908 OMIM:603345 Reactome:Q9Y6R1 SwissProt:Q9Y6R1 SLC4A4 solute carrier family 4 member 4 22q12.3 D22S675 NAGT SGLT-1 sodium/glucose cotransporter 1 ClinVar:SLC5A1 Ensembl:ENSG00000100170 Genatlas:SLC5A1 HGNC:11036 IUPHAR:915 OMIM:182380 Reactome:P13866 SwissProt:P13866 SLC5A1 solute carrier family 5 member 1 16p11.2 ClinVar:SLC5A2 Ensembl:ENSG00000140675 Genatlas:SLC5A2 HGNC:11037 IUPHAR:916 OMIM:182381 Reactome:P31639 SwissProt:P31639 SLC5A2 solute carrier family 5 member 2 19p13.11 NIS sodium iodide symporter ClinVar:SLC5A5 Ensembl:ENSG00000105641 Genatlas:SLC5A5 HGNC:11040 IUPHAR:920 OMIM:601843 Reactome:Q92911 SwissProt:Q92911 SLC5A5 solute carrier family 5 member 5 5p15.33 B0AT1 Hartnup disease Sodium-dependent neutral amino acid transporter B(0)AT1 broad neutral amino acid transporter 1 ClinVar:SLC6A19 Ensembl:ENSG00000174358 Genatlas:SLC6A19 HGNC:27960 IUPHAR:939 OMIM:608893 Reactome:Q695T7 SwissProt:Q695T7 SLC6A19 solute carrier family 6 member 19 Xq28 CRT CRT-1 CRT1 CRTR CT1 Sodium- and chloride-dependent creatine transporter 1 creatine transporter ClinVar:SLC6A8 Ensembl:ENSG00000130821 Genatlas:SLC6A8 HGNC:11055 IUPHAR:934 OMIM:300036 Reactome:P48029 SwissProt:P48029 SLC6A8 solute carrier family 6 member 8 14q11.2 Y+L amino acid transporter 1 Y+LAT1 y+LAT-1 ClinVar:SLC7A7 Ensembl:ENSG00000155465 Genatlas:SLC7A7 HGNC:11065 IUPHAR:898 OMIM:603593 Reactome:Q9UM01 SwissProt:Q9UM01 SLC7A7 solute carrier family 7 member 7 19q13.11 BAT1 b(0,+)-type amino acid transporter 1 ClinVar:SLC7A9 Ensembl:ENSG00000021488 Genatlas:SLC7A9 HGNC:11067 IUPHAR:900 OMIM:604144 Reactome:P82251 SwissProt:P82251 SLC7A9 solute carrier family 7 member 9 8q24.3 ANUP ARS ARS component B ArsB LY6-MT LY6LS MDM lymphocyte antigen 6-like secreted ClinVar:SLURP1 Ensembl:ENSG00000126233 Genatlas:SLURP1 HGNC:18746 OMIM:606119 SwissProt:P55000 SLURP1 secreted LY6/PLAUR domain containing 1 18q21.2 DPC4 ClinVar:SMAD4 Ensembl:ENSG00000141646 Genatlas:SMAD4 HGNC:6770 OMIM:600993 Reactome:Q13485 SwissProt:Q13485 SMAD4 SMAD family member 4 2q35 ATP-driven annealing helicase HARP HHARP HepA-related protein ClinVar:SMARCAL1 Ensembl:ENSG00000138375 Genatlas:SMARCAL1 HGNC:11102 OMIM:606622 SwissProt:Q9NZC9 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 22q11.23 BAF47 INI-1 Ini1 PPP1R144 RDT SNF5 Sfh1p Snr1 hSNFS integrase interactor 1 malignant rhabdoid tumor suppressor protein phosphatase 1, regulatory subunit 144 sucrose nonfermenting, yeast, homolog-like 1 ClinVar:SMARCB1 Ensembl:ENSG00000099956 Genatlas:SMARCB1 HGNC:11103 OMIM:601607 Reactome:Q12824 SwissProt:Q12824 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Xp11.22 DXS423E KIAA0178 SB1.8 Smcb ClinVar:SMC1A Ensembl:ENSG00000072501 Genatlas:SMC1A HGNC:11111 OMIM:300040 Reactome:Q14683 SwissProt:Q14683 SMC1A structural maintenance of chromosomes 1A 5q13.2 BCD541 GEMIN1 SMNC TDRD16B tudor domain containing 16B ClinVar:SMN2 Ensembl:ENSG00000205571 Genatlas:SMN2 HGNC:11118 OMIM:601627 Reactome:Q16637 SwissProt:Q16637 SMN2 survival of motor neuron 2, centromeric 11p15.4 ASM Niemann-Pick type A/B acid sphingomyelinase ClinVar:SMPD1 Ensembl:ENSG00000166311 Genatlas:SMPD1 HGNC:11120 IUPHAR:2514 OMIM:607608 Reactome:P17405 SwissProt:P17405 SMPD1 sphingomyelin phosphodiesterase 1 8q11.21 SLUGH SLUGH1 SNAIL2 ClinVar:SNAI2 Ensembl:ENSG00000019549 Genatlas:SNAI2 HGNC:11094 OMIM:602150 Reactome:O43623 SwissProt:O43623 SNAI2 snail family transcriptional repressor 2 22q11.21 CEDNIK SNAP-29 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome soluble 29 kDa NSF attachment protein ClinVar:SNAP29 Ensembl:ENSG00000099940 Genatlas:SNAP29 HGNC:11133 OMIM:604202 Reactome:O95721 SwissProt:O95721 SNAP29 synaptosome associated protein 29 4q22.1 NACP PD1 a-synuclein alpha-synuclein non A4 component of amyloid precursor ClinVar:SNCA Ensembl:ENSG00000145335 Genatlas:SNCA HGNC:11138 IUPHAR:3285 OMIM:163890 Reactome:P37840 SwissProt:P37840 SNCA synuclein alpha 15q11.2 HCERN3 RT-LI SM protein N SM-D SMN SNRNP-N SNURF-SNRPN small nuclear ribonucleoprotein N tissue-specific splicing protein ClinVar:SNRPN Ensembl:ENSG00000128739 Genatlas:SNRPN HGNC:11164 OMIM:182279 Reactome:P63162 SwissProt:P63162 SNRPN small nuclear ribonucleoprotein polypeptide N 21q22.11 IPOA ClinVar:SOD1 Ensembl:ENSG00000142168 Genatlas:SOD1 HGNC:11179 OMIM:147450 Reactome:P00441 SwissProt:P00441 SOD1 superoxide dismutase 1 2p22.1 GF1 HGF ClinVar:SOS1 Ensembl:ENSG00000115904 Genatlas:SOS1 HGNC:11187 IUPHAR:3096 OMIM:182530 Reactome:Q07889 SwissProt:Q07889 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 22q13.1 DOM SOX-10 WS2E WS4 dominant megacolon, mouse, human homolog of ClinVar:SOX10 Ensembl:ENSG00000100146 Genatlas:SOX10 HGNC:11190 OMIM:602229 Reactome:P56693 SwissProt:P56693 SOX10 SRY-box transcription factor 10 20q13.33 ClinVar:SOX18 Ensembl:ENSG00000203883 Genatlas:SOX18 HGNC:11194 OMIM:601618 SwissProt:P35713 SOX18 SRY-box transcription factor 18 3q26.33 ClinVar:SOX2 Ensembl:ENSG00000181449 Genatlas:SOX2 HGNC:11195 OMIM:184429 Reactome:P48431 SwissProt:P48431 SOX2 SRY-box transcription factor 2 17q24.3 SRA1 ClinVar:SOX9 Ensembl:ENSG00000125398 Genatlas:SOX9 HGNC:11204 OMIM:608160 Reactome:P48436 SwissProt:P48436 SOX9 SRY-box transcription factor 9 2q37.1 ClinVar:SP110 Ensembl:ENSG00000135899 Genatlas:SP110 HGNC:5401 IUPHAR:2778 OMIM:604457 SwissProt:Q9HB58 SP110 SP110 nuclear body protein Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns. Orphanet ICD-10:Q42.9 ICD-11:LB16.0 MeSH:C562562 OMIM:303650 UMLS:C0266190 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1198 Colonic atresia ORPHA:1198 ICD-10:Q42.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB16.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562562 E (Exact mapping: the two concepts are equivalent) OMIM:303650 E (Exact mapping: the two concepts are equivalent) UMLS:C0266190 E (Exact mapping: the two concepts are equivalent) 2p22.3 ADPSP FSP2 KIAA1083 ClinVar:SPAST Ensembl:ENSG00000021574 Genatlas:SPAST HGNC:11233 OMIM:604277 SwissProt:Q9UBP0 SPAST spastin 15q21.1 FLJ21439 spatacsin ClinVar:SPG11 Ensembl:ENSG00000104133 Genatlas:SPG11 HGNC:11226 OMIM:610844 SwissProt:Q96JI7 SPG11 SPG11 vesicle trafficking associated, spatacsin 13q13.3 KIAA0610 TAHCCP1 ClinVar:SPG20 Ensembl:ENSG00000133104 Genatlas:SPG20 HGNC:18514 OMIM:607111 Reactome:Q8N0X7 SwissProt:Q8N0X7 SPART spartin 15q22.31 ABHD21 ACP33 BM-019 GL010 MAST ClinVar:SPG21 Ensembl:ENSG00000090487 Genatlas:SPG21 HGNC:20373 OMIM:608181 Reactome:Q9NZD8 SwissProt:Q9NZD8 SPG21 SPG21 abhydrolase domain containing, maspardin 14q22.1 AD-FSP FSP1 atlastin ClinVar:ATL1 Ensembl:ENSG00000198513 Genatlas:ATL1 HGNC:11231 OMIM:606439 Reactome:Q8WXF7 SwissProt:Q8WXF7 ATL1 atlastin GTPase 1 16q24.3 CAR SPG5C paraplegin ClinVar:SPG7 Ensembl:ENSG00000197912 Genatlas:SPG7 HGNC:11237 OMIM:602783 Reactome:Q9UQ90 SwissProt:Q9UQ90 SPG7 SPG7 matrix AAA peptidase subunit, paraplegin 5q32 PCTT PSTI Spink3 TATI ClinVar:SPINK1 Ensembl:ENSG00000164266 Genatlas:SPINK1 HGNC:11244 OMIM:167790 SwissProt:P00995 SPINK1 serine peptidase inhibitor Kazal type 1 5q32 DKFZp686K19184 FLJ21544 FLJ97536 FLJ97596 FLJ99794 LEKTI LETKI NETS NS VAKTI lymphoepithelial Kazal-type-related inhibitor ClinVar:SPINK5 Ensembl:ENSG00000133710 Genatlas:SPINK5 HGNC:15464 OMIM:605010 Reactome:Q9NQ38 SwissProt:Q9NQ38 SPINK5 serine peptidase inhibitor Kazal type 5 2p13.2 SDR38C1 Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) short chain dehydrogenase/reductase family 38C, member 1 ClinVar:SPR Ensembl:ENSG00000116096 Genatlas:SPR HGNC:11257 IUPHAR:3020 OMIM:182125 Reactome:P35270 SwissProt:P35270 SPR sepiapterin reductase 1q23.1 EL2 elliptocytosis 2 ClinVar:SPTA1 Ensembl:ENSG00000163554 Genatlas:SPTA1 HGNC:11272 OMIM:182860 Reactome:P02549 SwissProt:P02549 SPTA1 spectrin alpha, erythrocytic 1 14q23.3 spherocytosis, clinical type I ClinVar:SPTB Ensembl:ENSG00000070182 Genatlas:SPTB HGNC:11274 OMIM:182870 Reactome:P11277 SwissProt:P11277 SPTB spectrin beta, erythrocytic 11q13.2 ClinVar:SPTBN2 Ensembl:ENSG00000173898 Genatlas:SPTBN2 HGNC:11276 OMIM:604985 Reactome:O15020 SwissProt:O15020 SPTBN2 spectrin beta, non-erythrocytic 2 9q22.31 HSAN1 LCB1 SPTI hLCB1 ClinVar:SPTLC1 Ensembl:ENSG00000090054 Genatlas:SPTLC1 HGNC:11277 IUPHAR:2509 OMIM:605712 Reactome:O15269 SwissProt:O15269 SPTLC1 serine palmitoyltransferase long chain base subunit 1 2p23.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 ClinVar:SRD5A2 Ensembl:ENSG00000277893 Genatlas:SRD5A2 HGNC:11285 IUPHAR:2633 OMIM:607306 Reactome:P31213 SwissProt:P31213 SRD5A2 steroid 5 alpha-reductase 2 Xq22.1 SRPUL ClinVar:SRPX2 Ensembl:ENSG00000102359 Genatlas:SRPX2 HGNC:30668 OMIM:300642 SwissProt:O60687 SRPX2 sushi repeat containing protein X-linked 2 Yp11.2 TDF testis-determining factor ClinVar:SRY Ensembl:ENSG00000184895 Genatlas:SRY HGNC:11311 OMIM:480000 Reactome:Q05066 SwissProt:Q05066 SRY sex determining region Y 18q11.2 SMARCL1 SYT ClinVar:SS18 Ensembl:ENSG00000141380 Genatlas:SS18 HGNC:11340 OMIM:600192 SwissProt:Q15532 SS18 SS18 subunit of BAF chromatin remodeling complex Xp11.23 CT5.1 cancer/testis antigen family 5, member 1 ClinVar:SSX1 Ensembl:ENSG00000126752 Genatlas:SSX1 HGNC:11335 OMIM:312820 SwissProt:Q16384 SSX1 SSX family member 1 8p11.23 STARD1 StAR StAR related lipid transfer (START) domain containing 1 ClinVar:STAR Ensembl:ENSG00000147465 Genatlas:STAR HGNC:11359 OMIM:600617 Reactome:P49675 SwissProt:P49675 STAR steroidogenic acute regulatory protein 2q32.2 ISGF-3 STAT91 transcription factor ISGF-3 components p91/p84 ClinVar:STAT1 Ensembl:ENSG00000115415 Genatlas:STAT1 HGNC:11362 OMIM:600555 Reactome:P42224 SwissProt:P42224 STAT1 signal transducer and activator of transcription 1 17q21.2 ClinVar:STAT5B Ensembl:ENSG00000173757 Genatlas:STAT5B HGNC:11367 OMIM:604260 Reactome:P51692 SwissProt:P51692 STAT5B signal transducer and activator of transcription 5B 19p13.3 LKB1 PJS polarization-related protein LKB1 ClinVar:STK11 Ensembl:ENSG00000118046 Genatlas:STK11 HGNC:11389 IUPHAR:2212 OMIM:602216 Reactome:Q15831 SwissProt:Q15831 STK11 serine/threonine kinase 11 Xp22.31 ARSC arylsulfatase C steryl-sulfatase ClinVar:STS Ensembl:ENSG00000101846 Genatlas:STS HGNC:11425 OMIM:300747 Reactome:P08842 SwissProt:P08842 STS steroid sulfatase 6q24.2 ClinVar:STX11 Ensembl:ENSG00000135604 Genatlas:STX11 HGNC:11429 OMIM:605014 Reactome:O75558 SwissProt:O75558 STX11 syntaxin 11 13q14.2 succinate--CoA ligase (ADP-forming) ClinVar:SUCLA2 Ensembl:ENSG00000136143 Genatlas:SUCLA2 HGNC:11448 OMIM:603921 Reactome:Q9P2R7 SwissProt:Q9P2R7 SUCLA2 succinate-CoA ligase ADP-forming subunit beta 10q24.32 PRO1280 SUFUH SUFUXL ClinVar:SUFU Ensembl:ENSG00000107882 Genatlas:SUFU HGNC:16466 OMIM:607035 Reactome:Q9UMX1 SwissProt:Q9UMX1 SUFU SUFU negative regulator of hedgehog signaling 3p26.1 FGE UNQ3037 ClinVar:SUMF1 Ensembl:ENSG00000144455 Genatlas:SUMF1 HGNC:20376 OMIM:607939 Reactome:Q8NBK3 SwissProt:Q8NBK3 SUMF1 sulfatase modifying factor 1 CEA Congenital esophageal atresia EA/TEF Esophageal atresia with or without trachea-esophageal fistula Oesophageal atresia A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress. Orphanet ICD-10:Q39.0 ICD-10:Q39.1 ICD-11:LB12.1 MeSH:D004933 MedDRA:10030146 OMIM:189960 UMLS:C0014850 Not applicable Neonatal Austria AND has_birth_prevalence_average_value : 19.5 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 24.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 11.8 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 23.8 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 26.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 10.8 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 18.4 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 17.1 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 34.4 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 22.4 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1199 Esophageal atresia ORPHA:1199 ICD-10:Q39.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q39.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB12.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004933 E (Exact mapping: the two concepts are equivalent) MedDRA:10030146 E (Exact mapping: the two concepts are equivalent) OMIM:189960 E (Exact mapping: the two concepts are equivalent) UMLS:C0014850 E (Exact mapping: the two concepts are equivalent) 12q13.2 ClinVar:SUOX Ensembl:ENSG00000139531 Genatlas:SUOX HGNC:11460 OMIM:606887 Reactome:P51687 SwissProt:P51687 SUOX sulfite oxidase 9q34.2 SHY1 surfeit locus protein 1 ClinVar:SURF1 Ensembl:ENSG00000148290 Genatlas:SURF1 HGNC:11474 OMIM:185620 Reactome:Q15526 SwissProt:Q15526 SURF1 SURF1 cytochrome c oxidase assembly factor Xp11.3-p11.23 Synapsin-1 ClinVar:SYN1 Ensembl:ENSG00000008056 Genatlas:SYN1 HGNC:11494 OMIM:313440 Reactome:P17600 SwissProt:P17600 SYN1 synapsin I 6q27 ClinVar:T Ensembl:ENSG00000164458 Genatlas:T HGNC:11515 OMIM:601397 SwissProt:O15178 TBXT T-box transcription factor T 1p32.1 EGP-1 GA733-1 TROP2 epithelial glycoprotein-1 trophoblast cell surface antigen 2 ClinVar:TACSTD2 Ensembl:ENSG00000184292 Genatlas:TACSTD2 HGNC:11530 IUPHAR:2837 OMIM:137290 SwissProt:P09758 TACSTD2 tumor associated calcium signal transducer 2 1p33 SCL bHLHa17 ClinVar:TAL1 Ensembl:ENSG00000162367 Genatlas:TAL1 HGNC:11556 OMIM:187040 Reactome:P17542 SwissProt:P17542 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor 6p21.32 D6S217E PSF2 RING11 ClinVar:TAP2 Ensembl:ENSG00000204267 Genatlas:TAP2 HGNC:44 IUPHAR:770 OMIM:170261 Reactome:Q03519 SwissProt:Q03519 TAP2 transporter 2, ATP binding cassette subfamily B member 16q22.2 ClinVar:TAT Ensembl:ENSG00000198650 Genatlas:TAT HGNC:11573 IUPHAR:2527 OMIM:613018 Reactome:P17735 SwissProt:P17735 TAT tyrosine aminotransferase Xq28 BTHS Barth syndrome G4.5 TAZ1 XAP-2 transcriptional coactivator with PDZ-binding motif ClinVar:TAZ Ensembl:ENSG00000102125 Genatlas:TAZ HGNC:11577 OMIM:300394 Reactome:Q16635 SwissProt:Q16635 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase 1q42.3 KCS1 pac2 ClinVar:TBCE Ensembl:ENSG00000284770 Genatlas:TBCE HGNC:11582 OMIM:604934 Reactome:Q15813 SwissProt:Q15813 TBCE tubulin folding cofactor E 7q11.23 DKFZP43N024 WBSCR13 WS-betaTRP Williams-Beuren syndrome chromosome region 13 ClinVar:TBL2 Ensembl:ENSG00000106638 Genatlas:TBL2 HGNC:11586 OMIM:605842 SwissProt:Q9Y4P3 TBL2 transducin beta like 2 6q27 Spinocerebellar ataxia 17 TBP1 TFIID ClinVar:TBP Ensembl:ENSG00000112592 Genatlas:TBP HGNC:11588 OMIM:600075 Reactome:P20226 SwissProt:P20226 TBP TATA-box binding protein 22q11.21 CATCH22 ClinVar:TBX1 Ensembl:ENSG00000184058 Genatlas:TBX1 HGNC:11592 OMIM:602054 SwissProt:O43435 TBX1 T-box transcription factor 1 1q24.2 TBS 19 TPIT dj747L4.1 ClinVar:TBX19 Ensembl:ENSG00000143178 Genatlas:TBX19 HGNC:11596 OMIM:604614 Reactome:O60806 SwissProt:O60806 TBX19 T-box transcription factor 19 Xq21.1 ClinVar:TBX22 Ensembl:ENSG00000122145 Genatlas:TBX22 HGNC:11600 OMIM:300307 SwissProt:Q9Y458 TBX22 T-box transcription factor 22 12q24.21 TBX3-ISO XHL ClinVar:TBX3 Ensembl:ENSG00000135111 Genatlas:TBX3 HGNC:11602 OMIM:601621 Reactome:O15119 SwissProt:O15119 TBX3 T-box transcription factor 3 17q23.2 ClinVar:TBX4 Ensembl:ENSG00000121075 Genatlas:TBX4 HGNC:11603 OMIM:601719 SwissProt:P57082 TBX4 T-box transcription factor 4 12q24.21 ClinVar:TBX5 Ensembl:ENSG00000089225 Genatlas:TBX5 HGNC:11604 OMIM:601620 Reactome:Q99593 SwissProt:Q99593 TBX5 T-box transcription factor 5 17q12 19 kDa sarcomeric protein CMD1N T-cap TELE telethonin teneurin C-terminal associated peptide ClinVar:TCAP Ensembl:ENSG00000173991 Genatlas:TCAP HGNC:11610 OMIM:604488 Reactome:O15273 SwissProt:O15273 TCAP titin-cap 11q13.2 ATP6N1C ATP6V0A3 Atp6i OC-116 OC116 T-cell immune response cDNA 7 TIRC7 V-ATPase subunit a3 a3 ClinVar:TCIRG1 Ensembl:ENSG00000110719 Genatlas:TCIRG1 HGNC:11647 IUPHAR:825 OMIM:604592 Reactome:Q13488 SwissProt:Q13488 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 22q12.2 D22S676 D22S750 TC2 macrocytic anemia ClinVar:TCN2 Ensembl:ENSG00000185339 Genatlas:TCN2 HGNC:11653 OMIM:613441 Reactome:P20062 SwissProt:P20062 TCN2 transcobalamin 2 NON RARE IN EUROPE: Acquired pernicious anemia NON RARE IN EUROPE: Addison-Biermer anemia NON RARE IN EUROPE: Addisonian anemia NON RARE IN EUROPE: Biermer anemia NON RARE IN EUROPE: Biermer disease NON RARE IN EUROPE: Juvenile onset pernicious anemia This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:D51.0 NON RARE IN EUROPE: Pernicious anemia ORPHA:120 ICD-10:D51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. Orphanet ICD-10:Q87.8 MeSH:C537411 OMIM:608572 OMIM:616462 UMLS:C1837822 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1200 Burn-McKeown syndrome ORPHA:1200 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537411 E (Exact mapping: the two concepts are equivalent) OMIM:608572 E (Exact mapping: the two concepts are equivalent) OMIM:616462 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1837822 E (Exact mapping: the two concepts are equivalent) 5q32-q33.1 TCS treacle ClinVar:TCOF1 Ensembl:ENSG00000070814 Genatlas:TCOF1 HGNC:11654 OMIM:606847 Reactome:Q13428 SwissProt:Q13428 TCOF1 treacle ribosome biogenesis factor 1 14q32.11 FLJ11090 SCAN1 ClinVar:TDP1 Ensembl:ENSG00000042088 Genatlas:TDP1 HGNC:18884 OMIM:607198 Reactome:Q9NUW8 SwissProt:Q9NUW8 TDP1 tyrosyl-DNA phosphodiesterase 1 11p15.3 TEF-1 transcriptional enhancer factor 1 ClinVar:TEAD1 Ensembl:ENSG00000187079 Genatlas:TEAD1 HGNC:11714 IUPHAR:3240 OMIM:189967 Reactome:P28347 SwissProt:P28347 TEAD1 TEA domain transcription factor 1 11q23.3 ClinVar:TECTA Ensembl:ENSG00000109927 Genatlas:TECTA HGNC:11720 OMIM:602574 Reactome:O75443 SwissProt:O75443 TECTA tectorin alpha 9p21.2 CD202b TIE-2 TIE2 VMCM1 angiopoietin-1 receptor ClinVar:TEK Ensembl:ENSG00000120156 Genatlas:TEK HGNC:11724 IUPHAR:1842 OMIM:600221 Reactome:Q02763 SwissProt:Q02763 TEK TEK receptor tyrosine kinase 3q22.1 PRO1557 PRO2086 serotransferrin ClinVar:TF Ensembl:ENSG00000091513 Genatlas:TF HGNC:11740 OMIM:190000 Reactome:P02787 SwissProt:P02787 TF transferrin 6p12.3 AP-2beta AP2-B ClinVar:TFAP2B Ensembl:ENSG00000008196 Genatlas:TFAP2B HGNC:11743 OMIM:601601 Reactome:Q92481 SwissProt:Q92481 TFAP2B transcription factor AP-2 beta 6q25.3 CGI-75 dimethyladenosine transferase 1, mitochondrial mtTFB ClinVar:TFB1M Ensembl:ENSG00000029639 Genatlas:TFB1M HGNC:17037 OMIM:607033 Reactome:Q8WVM0 SwissProt:Q8WVM0 TFB1M transcription factor B1, mitochondrial Xp11.23 TFEA bHLHe33 transcription factor E family, member A ClinVar:TFE3 Ensembl:ENSG00000068323 Genatlas:TFE3 HGNC:11752 OMIM:314310 Reactome:P19532 SwissProt:P19532 TFE3 transcription factor binding to IGHM enhancer 3 3q12.2 FLJ36137 SPG57 TF6 ClinVar:TFG Ensembl:ENSG00000114354 Genatlas:TFG HGNC:11758 OMIM:602498 Reactome:Q92734 SwissProt:Q92734 TFG trafficking from ER to golgi regulator 7q22.1 HFE3 TFRC2 ClinVar:TFR2 Ensembl:ENSG00000106327 Genatlas:TFR2 HGNC:11762 OMIM:604720 Reactome:Q9UP52 SwissProt:Q9UP52 TFR2 transferrin receptor 2 19q13.2 CED Camurati-Engelmann disease Diaphyseal dysplasia 1, progressive TGFbeta prepro-transforming growth factor beta-1 ClinVar:TGFB1 Ensembl:ENSG00000105329 Genatlas:TGFB1 HGNC:11766 OMIM:190180 Reactome:P01137 SwissProt:P01137 TGFB1 transforming growth factor beta 1 1q41 prepro-transforming growth factor beta-2 ClinVar:TGFB2 Ensembl:ENSG00000092969 Genatlas:TGFB2 HGNC:11768 OMIM:190220 Reactome:P61812 SwissProt:P61812 TGFB2 transforming growth factor beta 2 14q24.3 prepro-transforming growth factor beta-3 ClinVar:TGFB3 Ensembl:ENSG00000119699 Genatlas:TGFB3 HGNC:11769 OMIM:190230 Reactome:P10600 SwissProt:P10600 TGFB3 transforming growth factor beta 3 5q31.1 BIGH3 CDB1 CDGG1 ClinVar:TGFBI Ensembl:ENSG00000120708 Genatlas:TGFBI HGNC:11771 OMIM:601692 Reactome:Q15582 SwissProt:Q15582 TGFBI transforming growth factor beta induced 9q22.33 ACVRLK4 ALK-5 ALK5 TBR-i TBRI activin A receptor type II-like kinase, 53kDa ClinVar:TGFBR1 Ensembl:ENSG00000106799 Genatlas:TGFBR1 HGNC:11772 IUPHAR:1788 OMIM:190181 Reactome:P36897 SwissProt:P36897 TGFBR1 transforming growth factor beta receptor 1 3p24.1 TBR-ii TBRII ClinVar:TGFBR2 Ensembl:ENSG00000163513 Genatlas:TGFBR2 HGNC:11773 IUPHAR:1795 OMIM:190182 Reactome:P37173 SwissProt:P37173 TGFBR2 transforming growth factor beta receptor 2 18p11.31 ClinVar:TGIF1 Ensembl:ENSG00000177426 Genatlas:TGIF1 HGNC:11776 OMIM:602630 Reactome:Q15583 SwissProt:Q15583 TGIF1 TGFB induced factor homeobox 1 14q12 K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase LI LI1 TGASE TGK ClinVar:TGM1 Ensembl:ENSG00000092295 Genatlas:TGM1 HGNC:11777 OMIM:190195 Reactome:P22735 SwissProt:P22735 TGM1 transglutaminase 1 15q15.2 TGMX TGX protein-glutamine gamma-glutamyltransferase 5 ClinVar:TGM5 Ensembl:ENSG00000104055 Genatlas:TGM5 HGNC:11781 OMIM:603805 Reactome:O43548 SwissProt:O43548 TGM5 transglutaminase 5 11p15.5 DYT5b tyrosine 3-monooxygenase ClinVar:TH Ensembl:ENSG00000180176 Genatlas:TH HGNC:11782 IUPHAR:1243 OMIM:191290 Reactome:P07101 SwissProt:P07101 TH tyrosine hydroxylase 20p11.21 BDCA-3 CD141 THRM fetomodulin ClinVar:THBD Ensembl:ENSG00000178726 Genatlas:THBD HGNC:11784 OMIM:188040 Reactome:P07204 SwissProt:P07204 THBD thrombomodulin 3q27.1 MPL ligand MPLLG TPO c-mpl ligand megakaryocyte colony-stimulating factor megakaryocyte growth and development factor megakaryocyte stimulating factor myeloproliferative leukemia virus oncogene ligand prepro-thrombopoietin thrombopoietin nirs ClinVar:THPO Ensembl:ENSG00000090534 Genatlas:THPO HGNC:11795 OMIM:600044 Reactome:P40225 SwissProt:P40225 THPO thrombopoietin Atresia of small bowel Atresia of small intestine Jejunal atresia Jejunoileal atresia SBA Small intestinal atresia A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction. Orphanet ICD-10:Q41.0 ICD-10:Q41.1 ICD-10:Q41.2 ICD-10:Q41.8 ICD-10:Q41.9 ICD-11:LB15.1 MeSH:C538260 MedDRA:10010626 OMIM:243600 UMLS:C0266172 Autosomal recessive Not applicable Unknown Antenatal Austria AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 19.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 14.5 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Reunion AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1201 Small bowel atresia ORPHA:1201 ICD-10:Q41.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB15.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538260 E (Exact mapping: the two concepts are equivalent) MedDRA:10010626 E (Exact mapping: the two concepts are equivalent) OMIM:243600 E (Exact mapping: the two concepts are equivalent) UMLS:C0266172 E (Exact mapping: the two concepts are equivalent) 3p24.2 ERBA-BETA GRTH NR1A2 THR1 THRB1 THRB2 THRbeta THRbeta1 TRb TRbeta TRbeta1 Thrbeta2 avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2 c-erbA-2 c-erbA-beta generalized resistance to thyroid hormone nuclear receptor subfamily 1 group A member 2 oncogene ERBA2 thyroid hormone receptor beta 1 ClinVar:THRB Ensembl:ENSG00000151090 Genatlas:THRB HGNC:11799 IUPHAR:589 OMIM:190160 Reactome:P10828 SwissProt:P10828 THRB thyroid hormone receptor beta Xq22.1 DDP MTS ClinVar:TIMM8A Ensembl:ENSG00000126953 Genatlas:TIMM8A HGNC:11817 OMIM:300356 Reactome:O60220 SwissProt:O60220 TIMM8A translocase of inner mitochondrial membrane 8A 22q12.3 ClinVar:TIMP3 Ensembl:ENSG00000100234 Genatlas:TIMP3 HGNC:11822 OMIM:188826 Reactome:P35625 SwissProt:P35625 TIMP3 TIMP metallopeptidase inhibitor 3 16q21 SCA31 mitochondrial thymidine kinase ClinVar:TK2 Ensembl:ENSG00000166548 Genatlas:TK2 HGNC:11831 OMIM:188250 Reactome:O00142 SwissProt:O00142 TK2 thymidine kinase 2 9q21.13 ClinVar:TMC1 Ensembl:ENSG00000165091 Genatlas:TMC1 HGNC:16513 OMIM:606706 SwissProt:Q8TDI8 TMC1 transmembrane channel like 1 11p14.3 GDD1 ClinVar:ANO5 Ensembl:ENSG00000171714 Genatlas:ANO5 HGNC:27337 OMIM:608662 Reactome:Q75V66 SwissProt:Q75V66 ANO5 anoctamin 5 8q22.1 JBTS6 MGC26979 Meckelin NPHP11 ClinVar:TMEM67 Ensembl:ENSG00000164953 Genatlas:TMEM67 HGNC:28396 OMIM:609884 Reactome:Q5HYA8 SwissProt:Q5HYA8 TMEM67 transmembrane protein 67 3p21.31 ClinVar:TMIE Ensembl:ENSG00000181585 Genatlas:TMIE HGNC:30800 OMIM:607237 SwissProt:Q8NEW7 TMIE transmembrane inner ear 21q22.3 ClinVar:TMPRSS3 Ensembl:ENSG00000160183 Genatlas:TMPRSS3 HGNC:11877 OMIM:605511 SwissProt:P57727 TMPRSS3 transmembrane serine protease 3 18q21.33 CD265 FEO ODFR RANK TRANCE receptor TRANCE-R familial expansile osteolysis osteoclast differentiation factor receptor receptor activator of nuclear factor kappa B ClinVar:TNFRSF11A Ensembl:ENSG00000141655 Genatlas:TNFRSF11A HGNC:11908 IUPHAR:1881 OMIM:603499 Reactome:Q9Y6Q6 SwissProt:Q9Y6Q6 TNFRSF11A TNF receptor superfamily member 11a 8q24.12 OCIF TR1 osteoclastogenesis inhibitory factor ClinVar:TNFRSF11B Ensembl:ENSG00000164761 Genatlas:TNFRSF11B HGNC:11909 IUPHAR:1882 OMIM:602643 Reactome:O00300 SwissProt:O00300 TNFRSF11B TNF receptor superfamily member 11b 17p11.2 CD267 IGAD2 TACI ClinVar:TNFRSF13B Ensembl:ENSG00000240505 Genatlas:TNFRSF13B HGNC:18153 IUPHAR:1885 OMIM:604907 Reactome:O14836 SwissProt:O14836 TNFRSF13B TNF receptor superfamily member 13B 12p13.31 CD120a TNF-R TNF-R-I TNF-R55 TNFAR TNFR60 ClinVar:TNFRSF1A Ensembl:ENSG00000067182 Genatlas:TNFRSF1A HGNC:11916 IUPHAR:1870 OMIM:191190 Reactome:P19438 SwissProt:P19438 TNFRSF1A TNF receptor superfamily member 1A 11p15.5 DA2B FSSV fsTnI troponin I fast twitch 2 troponin I, fast-twitch skeletal muscle isoform ClinVar:TNNI2 Ensembl:ENSG00000130598 Genatlas:TNNI2 HGNC:11946 OMIM:191043 Reactome:P48788 SwissProt:P48788 TNNI2 troponin I2, fast skeletal type 19q13.42 CMH7 TNNC1 cTNI ClinVar:TNNI3 Ensembl:ENSG00000129991 Genatlas:TNNI3 HGNC:11947 OMIM:191044 Reactome:P19429 SwissProt:P19429 TNNI3 troponin I3, cardiac type 19q13.42 ANM FLJ98147 MGC104241 NEM5 STNT TNT TNTS nemaline myopathy type 5 slow skeletal muscle troponin T troponin T1, skeletal, slow ClinVar:TNNT1 Ensembl:ENSG00000105048 Genatlas:TNNT1 HGNC:11948 OMIM:191041 Reactome:P13805 SwissProt:P13805 TNNT1 troponin T1, slow skeletal type 1q32.1 CMPD2 ClinVar:TNNT2 Ensembl:ENSG00000118194 Genatlas:TNNT2 HGNC:11949 OMIM:191045 Reactome:P45379 SwissProt:P45379 TNNT2 troponin T2, cardiac type 11p15.5 AMCD2B DA2B DKFZp779M2348 FSSV troponin-T3, skeletal, fast ClinVar:TNNT3 Ensembl:ENSG00000130595 Genatlas:TNNT3 HGNC:11950 OMIM:600692 Reactome:P45378 SwissProt:P45378 TNNT3 troponin T3, fast skeletal type 6p21.33-p21.32 HXBL Hexabrachion-like protein TN-X TNX TNXBS XB XBS tenascin-X ClinVar:TNXB Ensembl:ENSG00000168477 Genatlas:TNXB HGNC:11976 OMIM:600985 Reactome:P22105 SwissProt:P22105 TNXB tenascin XB A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities. Orphanet ICD-10:Q31.8 ICD-11:LA71.Y OMIM:150300 UMLS:C0265756 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1202 Larynx atresia ORPHA:1202 ICD-10:Q31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:150300 E (Exact mapping: the two concepts are equivalent) UMLS:C0265756 E (Exact mapping: the two concepts are equivalent) 9q34.11 DQ2 torsin A torsin-1A torsinA ClinVar:TOR1A Ensembl:ENSG00000136827 Genatlas:TOR1A HGNC:3098 OMIM:605204 Reactome:O14656 SwissProt:O14656 TOR1A torsin family 1 member A 17p13.1 LFS1 Li-Fraumeni syndrome P53 p53 ClinVar:TP53 Ensembl:ENSG00000141510 Genatlas:TP53 HGNC:11998 OMIM:191170 Reactome:P04637 SwissProt:P04637 TP53 tumor protein p53 3q28 EEC3 KET NBP OFC8 SHFM4 p40 p51 p53CP p63 p73H p73L ClinVar:TP63 Ensembl:ENSG00000073282 Genatlas:TP63 HGNC:15979 OMIM:603273 Reactome:Q9H3D4 SwissProt:Q9H3D4 TP63 tumor protein p63 12p13.31 ClinVar:TPI1 Ensembl:ENSG00000111669 Genatlas:TPI1 HGNC:12009 OMIM:190450 Reactome:P60174 SwissProt:P60174 TPI1 triosephosphate isomerase 1 15q22.2 ClinVar:TPM1 Ensembl:ENSG00000140416 Genatlas:TPM1 HGNC:12010 OMIM:191010 Reactome:P09493 SwissProt:P09493 TPM1 tropomyosin 1 9p13.3 DA1 NEM4 nemaline myopathy type 4 ClinVar:TPM2 Ensembl:ENSG00000198467 Genatlas:TPM2 HGNC:12011 OMIM:190990 Reactome:P07951 SwissProt:P07951 TPM2 tropomyosin 2 1q21.3 TRK ClinVar:TPM3 Ensembl:ENSG00000143549 Genatlas:TPM3 HGNC:12012 OMIM:191030 Reactome:P06753 SwissProt:P06753 TPM3 tropomyosin 3 2p25.3 TPX ClinVar:TPO Ensembl:ENSG00000115705 Genatlas:TPO HGNC:12015 IUPHAR:2526 OMIM:606765 Reactome:P07202 SwissProt:P07202 TPO thyroid peroxidase 11p15.4 LPIC TPP I TPP-1 lysosomal pepstatin-insensitive carboxypeptidase ClinVar:TPP1 Ensembl:ENSG00000166340 Genatlas:TPP1 HGNC:2073 OMIM:607998 Reactome:O14773 SwissProt:O14773 TPP1 tripeptidyl peptidase 1 1q31.1 ClinVar:TPR Ensembl:ENSG00000047410 Genatlas:TPR HGNC:12017 OMIM:189940 Reactome:P12270 SwissProt:P12270 TPR translocated promoter region, nuclear basket protein Xp22.2 MIP-2A SEDT TRS20 ZNF547L hYP38334 ClinVar:TRAPPC2 Ensembl:ENSG00000196459 Genatlas:TRAPPC2 HGNC:23068 OMIM:300202 Reactome:P0DI81 SwissProt:P0DI81 TRAPPC2 trafficking protein particle complex subunit 2 6p21.1 TREM-2 Trem2a Trem2b Trem2c ClinVar:TREM2 Ensembl:ENSG00000095970 Genatlas:TREM2 HGNC:17761 OMIM:605086 Reactome:Q9NZC2 SwissProt:Q9NZC2 TREM2 triggering receptor expressed on myeloid cells 2 3p21.31 DRN3 ClinVar:TREX1 Ensembl:ENSG00000213689 Genatlas:TREX1 HGNC:12269 OMIM:606609 Reactome:Q9NSU2 SwissProt:Q9NSU2 TREX1 three prime repair exonuclease 1 3q22.1 prothyroliberin ClinVar:TRH Ensembl:ENSG00000170893 Genatlas:TRH HGNC:12298 OMIM:613879 Reactome:P20396 SwissProt:P20396 TRH thyrotropin releasing hormone 8q23.1 ClinVar:TRHR Ensembl:ENSG00000174417 Genatlas:TRHR HGNC:12299 IUPHAR:363 OMIM:188545 Reactome:P34981 SwissProt:P34981 TRHR thyrotropin releasing hormone receptor 7q33-q34 RNF82 TIF1A Tif1a hTIF1 ClinVar:TRIM24 Ensembl:ENSG00000122779 Genatlas:TRIM24 HGNC:11812 IUPHAR:2252 OMIM:603406 Reactome:O15164 SwissProt:O15164 TRIM24 tripartite motif containing 24 6p22.1 RNF76 ClinVar:TRIM27 Ensembl:ENSG00000204713 Genatlas:TRIM27 HGNC:9975 OMIM:602165 Reactome:P14373 SwissProt:P14373 TRIM27 tripartite motif containing 27 9q33.1 BBS11 HT2A TATIP ClinVar:TRIM32 Ensembl:ENSG00000119401 Genatlas:TRIM32 HGNC:16380 OMIM:602290 Reactome:Q13049 SwissProt:Q13049 TRIM32 tripartite motif containing 32 1p13.2 FLJ11429 KIAA1113 PTC7 RFG7 TF1G TIF1G TIF1GAMMA TIFGAMMA ret-fused gene 7 transcriptional intermediary factor 1 gamma ClinVar:TRIM33 Ensembl:ENSG00000197323 Genatlas:TRIM33 HGNC:16290 IUPHAR:2254 OMIM:605769 Reactome:Q9UPN9 SwissProt:Q9UPN9 TRIM33 tripartite motif containing 33 17q22 E3 ubiquitin-protein ligase TRIM37 KIAA0898 POB1 RING-B-box-coiled-coil protein TEF3 ClinVar:TRIM37 Ensembl:ENSG00000108395 Genatlas:TRIM37 HGNC:7523 OMIM:605073 Reactome:O94972 SwissProt:O94972 TRIM37 tripartite motif containing 37 22q13.31 FLJ10140 MTO2 MTU1 mitochondrial tRNA-specific 2-thiouridylase 1 ClinVar:TRMU Ensembl:ENSG00000100416 Genatlas:TRMU HGNC:25481 OMIM:610230 Reactome:O75648 SwissProt:O75648 TRMU tRNA mitochondrial 2-thiouridylase 11q22.1 TRP6 ClinVar:TRPC6 Ensembl:ENSG00000137672 Genatlas:TRPC6 HGNC:12338 IUPHAR:491 OMIM:603652 Reactome:Q9Y210 SwissProt:Q9Y210 TRPC6 transient receptor potential cation channel subfamily C member 6 A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen. Orphanet ICD-10:Q41.0 ICD-11:LB14 MeSH:C535720 MedDRA:10013812 OMIM:223400 UMLS:C0266174 Unknown Antenatal Childhood Infancy Neonatal Austria AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Austria AND has_point_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_range : 1-9 / 100 000 Reunion AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Reunion AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1203 Duodenal atresia ORPHA:1203 ICD-10:Q41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535720 E (Exact mapping: the two concepts are equivalent) MedDRA:10013812 E (Exact mapping: the two concepts are equivalent) OMIM:223400 E (Exact mapping: the two concepts are equivalent) UMLS:C0266174 E (Exact mapping: the two concepts are equivalent) 9q21.13 CHAK2 FLJ22628 ClinVar:TRPM6 Ensembl:ENSG00000119121 Genatlas:TRPM6 HGNC:17995 IUPHAR:498 OMIM:607009 Reactome:Q9BX84 SwissProt:Q9BX84 TRPM6 transient receptor potential cation channel subfamily M member 6 8q23.3 GC79 LGCR ClinVar:TRPS1 Ensembl:ENSG00000104447 Genatlas:TRPS1 HGNC:12340 OMIM:604386 SwissProt:Q9UHF7 TRPS1 transcriptional repressor GATA binding 1 9q34.13 KIAA0243 LAM hamartin ClinVar:TSC1 Ensembl:ENSG00000165699 Genatlas:TSC1 HGNC:12362 OMIM:605284 Reactome:Q92574 SwissProt:Q92574 TSC1 TSC complex subunit 1 16p13.3 LAM PPP1R160 protein phosphatase 1, regulatory subunit 160 tuberin ClinVar:TSC2 Ensembl:ENSG00000103197 Genatlas:TSC2 HGNC:12363 OMIM:191092 Reactome:P49815 SwissProt:P49815 TSC2 TSC complex subunit 2 14q24-q31 LGR3 ClinVar:TSHR Ensembl:ENSG00000165409 Genatlas:TSHR HGNC:12373 IUPHAR:255 OMIM:603372 Reactome:P16473 SwissProt:P16473 TSHR thyroid stimulating hormone receptor 14q31.3 BBS8 RP51 ClinVar:TTC8 Ensembl:ENSG00000165533 Genatlas:TTC8 HGNC:20087 OMIM:608132 Reactome:Q8TAM2 SwissProt:Q8TAM2 TTC8 tetratricopeptide repeat domain 8 2q31.2 CMH9 CMPD4 FLJ32040 LGMD2J MYLK5 TMD ClinVar:TTN Ensembl:ENSG00000155657 Genatlas:TTN HGNC:12403 IUPHAR:2265 OMIM:188840 Reactome:Q8WZ42 SwissProt:Q8WZ42 TTN titin 8q12.3 ClinVar:TTPA Ensembl:ENSG00000137561 Genatlas:TTPA HGNC:12404 OMIM:600415 Reactome:P49638 SwissProt:P49638 TTPA alpha tocopherol transfer protein 18q12.1 CTS HsT2651 ClinVar:TTR Ensembl:ENSG00000118271 Genatlas:TTR HGNC:12405 IUPHAR:2851 OMIM:176300 Reactome:P02766 SwissProt:P02766 TTR transthyretin 6p21.31 LCA15 TUBL1 ClinVar:TULP1 Ensembl:ENSG00000112041 Genatlas:TULP1 HGNC:12423 OMIM:602280 Reactome:O00294 SwissProt:O00294 TULP1 TUB like protein 1 7p21.1 BPES2 CRS1 H-twist SCS Saethre-Chotzen syndrome bHLHa38 ClinVar:TWIST1 Ensembl:ENSG00000122691 Genatlas:TWIST1 HGNC:12428 OMIM:601622 Reactome:Q15672 SwissProt:Q15672 TWIST1 twist family bHLH transcription factor 1 11q14.3 OCA1 OCA1A OCAIA oculocutaneous albinism IA ClinVar:TYR Ensembl:ENSG00000077498 Genatlas:TYR HGNC:12442 IUPHAR:2643 OMIM:606933 Reactome:P14679 SwissProt:P14679 TYR tyrosinase 19q13.12 DAP12 DNAX adaptor protein 12 DNAX-activation protein 12 KARAP PLO-SL killer activating receptor associated protein ClinVar:TYROBP Ensembl:ENSG00000011600 Genatlas:TYROBP HGNC:12449 OMIM:604142 Reactome:O43914 SwissProt:O43914 TYROBP transmembrane immune signaling adaptor TYROBP 9p23 CATB GP75 OCA3 TRP b-PROTEIN ClinVar:TYRP1 Ensembl:ENSG00000107165 Genatlas:TYRP1 HGNC:12450 OMIM:115501 Reactome:P17643 SwissProt:P17643 TYRP1 tyrosinase related protein 1 15q11.2 ANCR AS Angelman syndrome E6-AP FLJ26981 ClinVar:UBE3A Ensembl:ENSG00000114062 Genatlas:UBE3A HGNC:12496 OMIM:601623 Reactome:Q05086 SwissProt:Q05086 UBE3A ubiquitin protein ligase E3A 15q15.2 ClinVar:UBR1 Ensembl:ENSG00000159459 Genatlas:UBR1 HGNC:16808 OMIM:605981 Reactome:Q8IWV7 SwissProt:Q8IWV7 UBR1 ubiquitin protein ligase E3 component n-recognin 1 4p13 PGP9.5 UCHL-1 Uch-L1 ubiquitin thiolesterase ClinVar:UCHL1 Ensembl:ENSG00000154277 Genatlas:UCHL1 HGNC:12513 IUPHAR:2426 OMIM:191342 Reactome:P09936 SwissProt:P09936 UCHL1 ubiquitin C-terminal hydrolase L1 2q37.1 UGT1A ClinVar:UGT1A1 Ensembl:ENSG00000241635 Genatlas:UGT1A1 HGNC:12530 IUPHAR:2990 OMIM:191740 Reactome:P22309 SwissProt:P22309 UGT1A1 UDP glucuronosyltransferase family 1 member A1 16p12.3 Tamm-Horsfall glycoprotein uromucoid ClinVar:UMOD Ensembl:ENSG00000169344 Genatlas:UMOD HGNC:12559 OMIM:191845 Reactome:P07911 SwissProt:P07911 UMOD uromodulin 3q21.2 orotate phosphoribosyl transferase and orotidine-5'-decarboxylase ClinVar:UMPS Ensembl:ENSG00000114491 Genatlas:UMPS HGNC:12563 OMIM:613891 Reactome:P11172 SwissProt:P11172 UMPS uridine monophosphate synthetase 17q25.3 Munc13-4 ClinVar:UNC13D Ensembl:ENSG00000092929 Genatlas:UNC13D HGNC:23147 OMIM:608897 Reactome:Q70J99 SwissProt:Q70J99 UNC13D unc-13 homolog D 11q13.2 UNC93 ClinVar:UNC93B1 Ensembl:ENSG00000110057 Genatlas:UNC93B1 HGNC:13481 OMIM:608204 Reactome:Q9H1C4 SwissProt:Q9H1C4 UNC93B1 unc-93 homolog B1, TLR signaling regulator 12q24.11 HIGM4 UDG UNG1 UNG2 uracil-DNA glycosylase 1, uracil-DNA glycosylase 2 ClinVar:UNG Ensembl:ENSG00000076248 Genatlas:UNG HGNC:12572 OMIM:191525 Reactome:P13051 SwissProt:P13051 UNG uracil DNA glycosylase 22q11.23 BUP1 ClinVar:UPB1 Ensembl:ENSG00000100024 Genatlas:UPB1 HGNC:16297 OMIM:606673 Reactome:Q9UBR1 SwissProt:Q9UBR1 UPB1 beta-ureidopropionase 1 1p34.1 ClinVar:UROD Ensembl:ENSG00000126088 Genatlas:UROD HGNC:12591 OMIM:613521 Reactome:P06132 SwissProt:P06132 UROD uroporphyrinogen decarboxylase 10q26.2 congenital erythropoietic porphyria ClinVar:UROS Ensembl:ENSG00000188690 Genatlas:UROS HGNC:12592 OMIM:606938 Reactome:P10746 SwissProt:P10746 UROS uroporphyrinogen III synthase 11p15.1 AIE-75 NY-CO-37 NY-CO-38 PDZ-73 PDZ73 PDZD7C harmonin ClinVar:USH1C Ensembl:ENSG00000006611 Genatlas:USH1C HGNC:12597 OMIM:605242 Reactome:Q9Y6N9 SwissProt:Q9Y6N9 USH1C USH1 protein network component harmonin 17q25.1 ANKS4A FLJ33924 Sans ClinVar:USH1G Ensembl:ENSG00000182040 Genatlas:USH1G HGNC:16356 OMIM:607696 Reactome:Q495M9 SwissProt:Q495M9 USH1G USH1 protein network component sans 1q41 RP39 ClinVar:USH2A Ensembl:ENSG00000042781 Genatlas:USH2A HGNC:12601 OMIM:608400 SwissProt:O75445 USH2A usherin Yq11.221 AZFA DFFRY FAF-Y azoospermia factor A fat facets-like homolog (Drosophila) ClinVar:USP9Y Ensembl:ENSG00000114374 Genatlas:USP9Y HGNC:12633 OMIM:400005 SwissProt:O00507 USP9Y ubiquitin specific peptidase 9 Y-linked 20q13.32 ALS8 VAP-B VAP-C ClinVar:VAPB Ensembl:ENSG00000124164 Genatlas:VAPB HGNC:12649 OMIM:605704 Reactome:O95292 SwissProt:O95292 VAPB VAMP associated protein B and C 5q14.2-q14.3 PG-M versican proteoglycan ClinVar:VCAN Ensembl:ENSG00000038427 Genatlas:VCAN HGNC:2464 OMIM:118661 Reactome:P13611 SwissProt:P13611 VCAN versican 9p13.3 CDC48 IBMPFD TERA p97 transitional endoplasmic reticulum ATPase ClinVar:VCP Ensembl:ENSG00000165280 Genatlas:VCP HGNC:12666 OMIM:601023 Reactome:P55072 SwissProt:P55072 VCP valosin containing protein 12q13.11 1,25- dihydroxyvitamin D3 receptor NR1I1 PPP1R163 protein phosphatase 1, regulatory subunit 163 ClinVar:VDR Ensembl:ENSG00000111424 Genatlas:VDR HGNC:12679 IUPHAR:605 OMIM:601769 Reactome:P11473 SwissProt:P11473 VDR vitamin D receptor 3p25.3 VHL1 ClinVar:VHL Ensembl:ENSG00000134086 Genatlas:VHL HGNC:12687 IUPHAR:3204 OMIM:608537 Reactome:P40337 SwissProt:P40337 VHL von Hippel-Lindau tumor suppressor 9p24.2 CARMQ1 CHRMQ1 VLDLRCH ClinVar:VLDLR Ensembl:ENSG00000147852 Genatlas:VLDLR HGNC:12698 OMIM:192977 Reactome:P98155 SwissProt:P98155 VLDLR very low density lipoprotein receptor 9q21.2 BLTP5A KIAA0986 bridge-like lipid transfer protein family member 5A chorein ClinVar:VPS13A Ensembl:ENSG00000197969 Genatlas:VPS13A HGNC:1908 OMIM:605978 SwissProt:Q96RL7 VPS13A vacuolar protein sorting 13 homolog A 8q22.2 BLTP5B bridge-like lipid transfer protein family member 5B ClinVar:VPS13B Ensembl:ENSG00000132549 Genatlas:VPS13B HGNC:2183 OMIM:607817 SwissProt:Q7Z7G8 VPS13B vacuolar protein sorting 13 homolog B 15q26.1 FLJ14848 ClinVar:VPS33B Ensembl:ENSG00000184056 Genatlas:VPS33B HGNC:12712 OMIM:608552 SwissProt:Q9H267 VPS33B VPS33B late endosome and lysosome associated 20p11.21 PPCD1 PPD ClinVar:VSX1 Ensembl:ENSG00000100987 Genatlas:VSX1 HGNC:12723 OMIM:605020 SwissProt:Q9NZR4 VSX1 visual system homeobox 1 12p13.31 Factor VIII related antigen ClinVar:VWF Ensembl:ENSG00000110799 Genatlas:VWF HGNC:12726 OMIM:613160 Reactome:P04275 SwissProt:P04275 VWF von Willebrand factor Xp11.23 WASP WASPA eczema-thrombocytopenia ClinVar:WAS Ensembl:ENSG00000015285 Genatlas:WAS HGNC:12731 OMIM:300392 Reactome:P42768 SwissProt:P42768 WAS WASP actin nucleation promoting factor A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia). Orphanet ICD-10:Q23.2 ICD-11:LA89.2 UMLS:C0344760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1205 Mitral atresia ORPHA:1205 ICD-10:Q23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA89.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0344760 E (Exact mapping: the two concepts are equivalent) 4p16.1 DIDMOAD WFS ClinVar:WFS1 Ensembl:ENSG00000109501 Genatlas:WFS1 HGNC:12762 OMIM:606201 Reactome:O76024 SwissProt:O76024 WFS1 wolframin ER transmembrane glycoprotein 4p16.3 KMT3G MMSET multiple myeloma SET domain containing protein ClinVar:WHSC1 Ensembl:ENSG00000109685 Genatlas:WHSC1 HGNC:12766 IUPHAR:3220 OMIM:602952 Reactome:O96028 SwissProt:O96028 NSD2 nuclear receptor binding SET domain protein 2 4p16.3 NELF-A ClinVar:NELFA Ensembl:ENSG00000185049 Genatlas:NELFA HGNC:12768 OMIM:606026 Reactome:Q9H3P2 SwissProt:Q9H3P2 NELFA negative elongation factor complex member A 6q21 CCN6 WISP-3 ClinVar:WISP3 Ensembl:ENSG00000112761 Genatlas:WISP3 HGNC:12771 OMIM:603400 SwissProt:O95389 CCN6 cellular communication network factor 6 12p13.33 HSAN2 PPP1R167 protein phosphatase 1, regulatory subunit 167 ClinVar:WNK1 Ensembl:ENSG00000060237 Genatlas:WNK1 HGNC:14540 IUPHAR:2280 OMIM:605232 Reactome:Q9H4A3 SwissProt:Q9H4A3 WNK1 WNK lysine deficient protein kinase 1 17q21.2 ClinVar:WNK4 Ensembl:ENSG00000126562 Genatlas:WNK4 HGNC:14544 IUPHAR:2283 OMIM:601844 Reactome:Q96J92 SwissProt:Q96J92 WNK4 WNK lysine deficient protein kinase 4 17q21.31-q21.32 MGC131950 MGC138321 MGC138323 WNT-3 proto-oncogene protein ClinVar:WNT3 Ensembl:ENSG00000108379 Genatlas:WNT3 HGNC:12782 OMIM:165330 Reactome:P56703 SwissProt:P56703 WNT3 Wnt family member 3 1p36.12 WNT-4 ClinVar:WNT4 Ensembl:ENSG00000162552 Genatlas:WNT4 HGNC:12783 OMIM:603490 Reactome:P56705 SwissProt:P56705 WNT4 Wnt family member 4 3p25.1 Wnt-7a proto-oncogene Wnt7a protein ClinVar:WNT7A Ensembl:ENSG00000154764 Genatlas:WNT7A HGNC:12786 OMIM:601570 Reactome:O00755 SwissProt:O00755 WNT7A Wnt family member 7A 8p12 RECQ3 RECQL2 ClinVar:WRN Ensembl:ENSG00000165392 Genatlas:WRN HGNC:12791 IUPHAR:3259 OMIM:604611 Reactome:Q14191 SwissProt:Q14191 WRN WRN RecQ like helicase 11p13 AWT1 NPHS4 WAGR WIT-2 WT-1 ClinVar:WT1 Ensembl:ENSG00000184937 Genatlas:WT1 HGNC:12796 OMIM:607102 Reactome:P19544 SwissProt:P19544 WT1 WT1 transcription factor 16q23.1-q23.2 FOR SDR41C1 WOX1 short chain dehydrogenase/reductase family 41C, member 1 ClinVar:WWOX Ensembl:ENSG00000186153 Genatlas:WWOX HGNC:12799 OMIM:605131 Reactome:Q9NZC7 SwissProt:Q9NZC7 WWOX WW domain containing oxidoreductase 2p23.1 XO XOR ClinVar:XDH Ensembl:ENSG00000158125 Genatlas:XDH HGNC:12805 IUPHAR:2646 OMIM:607633 Reactome:P47989 SwissProt:P47989 XDH xanthine dehydrogenase Xp21.1 Kx Kx antigen McLeod syndrome X1k XKR1 ClinVar:XK Ensembl:ENSG00000047597 Genatlas:XK HGNC:12811 OMIM:314850 Reactome:P51811 SwissProt:P51811 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein 9q22.33 XP1 XPAC ClinVar:XPA Ensembl:ENSG00000136936 Genatlas:XPA HGNC:12814 OMIM:611153 Reactome:P23025 SwissProt:P23025 XPA XPA, DNA damage recognition and repair factor 3p25.1 RAD4 XPCC xeroderma pigmentosum group C protein ClinVar:XPC Ensembl:ENSG00000154767 Genatlas:XPC HGNC:12816 OMIM:613208 Reactome:Q01831 SwissProt:Q01831 XPC XPC complex subunit, DNA damage recognition and repair factor 2q11.2 STD ZAP-70 tyrosine-protein kinase ZAP-70 ClinVar:ZAP70 Ensembl:ENSG00000115085 Genatlas:ZAP70 HGNC:12858 IUPHAR:2285 OMIM:176947 Reactome:P43403 SwissProt:P43403 ZAP70 zeta chain of T-cell receptor associated protein kinase 70 10p11.22 AREB6 BZP FECD6 NIL-2-A ZEB Zfhep Zfhx1a ClinVar:ZEB1 Ensembl:ENSG00000148516 Genatlas:ZEB1 HGNC:11642 OMIM:189909 Reactome:P37275 SwissProt:P37275 ZEB1 zinc finger E-box binding homeobox 1 2q22.3 KIAA0569 SIP-1 SIP1 SMAD interacting protein 1 ClinVar:ZEB2 Ensembl:ENSG00000169554 Genatlas:ZEB2 HGNC:14881 OMIM:605802 Reactome:O60315 SwissProt:O60315 ZEB2 zinc finger E-box binding homeobox 2 8q23 FOG2 ZC2HC11B ZNF89B hFOG-2 ClinVar:ZFPM2 Ensembl:ENSG00000169946 Genatlas:ZFPM2 HGNC:16700 OMIM:603693 Reactome:Q8WW38 SwissProt:Q8WW38 ZFPM2 zinc finger protein, FOG family member 2 3q24 ZIC ZNF201 ClinVar:ZIC1 Ensembl:ENSG00000152977 Genatlas:ZIC1 HGNC:12872 OMIM:600470 Reactome:Q15915 SwissProt:Q15915 ZIC1 Zic family member 1 13q32.3 HPE5 Zinc finger protein of the cerebellum 2 ClinVar:ZIC2 Ensembl:ENSG00000043355 Genatlas:ZIC2 HGNC:12873 OMIM:603073 SwissProt:O95409 ZIC2 Zic family member 2 Xq26.3 HTX ZNF203 ClinVar:ZIC3 Ensembl:ENSG00000156925 Genatlas:ZIC3 HGNC:12874 OMIM:300265 Reactome:O60481 SwissProt:O60481 ZIC3 Zic family member 3 3q24 ClinVar:ZIC4 Ensembl:ENSG00000174963 Genatlas:ZIC4 HGNC:20393 OMIM:608948 SwissProt:Q8N9L1 ZIC4 Zic family member 4 1p34.2 CAAX prenyl protease 1 homolog FACE-1 HGPS Hutchinson-Gilford progeria syndrome PRO1 STE24 Ste24p ClinVar:ZMPSTE24 Ensembl:ENSG00000084073 Genatlas:ZMPSTE24 HGNC:12877 OMIM:606480 Reactome:O75844 SwissProt:O75844 ZMPSTE24 zinc metallopeptidase STE24 3q28 HOMG3 PCLN1 hypomagnesemia 3, with hypercalciuria and nephrocalcinosis paracellin-1 ClinVar:CLDN16 Ensembl:ENSG00000113946 Genatlas:CLDN16 HGNC:2037 OMIM:603959 Reactome:Q9Y5I7 SwissProt:Q9Y5I7 CLDN16 claudin 16 1p34.2 ClinVar:CLDN19 Ensembl:ENSG00000164007 Genatlas:CLDN19 HGNC:2040 OMIM:610036 Reactome:Q8N6F1 SwissProt:Q8N6F1 CLDN19 claudin 19 7q11.23 CLIP CLIP-115 KIAA0291 WSCR3 WSCR4 ClinVar:CLIP2 Ensembl:ENSG00000106665 Genatlas:CLIP2 HGNC:2586 OMIM:603432 SwissProt:Q9UDT6 CLIP2 CAP-Gly domain containing linker protein 2 16p12.1 BTN1 JNCL juvenile neuronal ceroid lipofuscinosis ClinVar:CLN3 Ensembl:ENSG00000188603 Genatlas:CLN3 HGNC:2074 OMIM:607042 SwissProt:Q13286 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin 13q22.3 ClinVar:CLN5 Ensembl:ENSG00000102805 Genatlas:CLN5 HGNC:2076 OMIM:608102 SwissProt:O75503 CLN5 CLN5 intracellular trafficking protein 15q23 FLJ20561 HsT18960 nclf ClinVar:CLN6 Ensembl:ENSG00000128973 Genatlas:CLN6 HGNC:2077 OMIM:606725 Reactome:Q9NWW5 SwissProt:Q9NWW5 CLN6 CLN6 transmembrane ER protein 8p23.3 FLJ39417 TLCD6 ClinVar:CLN8 Ensembl:ENSG00000182372 Genatlas:CLN8 HGNC:2079 OMIM:607837 SwissProt:Q9UBY8 CLN8 CLN8 transmembrane ER and ERGIC protein 3q25.1 ClinVar:CLRN1 Ensembl:ENSG00000163646 Genatlas:CLRN1 HGNC:12605 OMIM:606397 SwissProt:P58418 CLRN1 clarin 1 3q21.3 CNBP1 RNF163 ZCCHC22 ClinVar:CNBP Ensembl:ENSG00000169714 Genatlas:CNBP HGNC:13164 OMIM:116955 Reactome:P62633 SwissProt:P62633 CNBP CCHC-type zinc finger nucleic acid binding protein 4p12 CNG1 RCNC1 RCNCa RP49 cGMP-gated cation channel alpha-1 ClinVar:CNGA1 Ensembl:ENSG00000198515 Genatlas:CNGA1 HGNC:2148 IUPHAR:394 OMIM:123825 Reactome:P29973 SwissProt:P29973 CNGA1 cyclic nucleotide gated channel subunit alpha 1 2q11.2 CCNC1 CCNCa CNG3 ClinVar:CNGA3 Ensembl:ENSG00000144191 Genatlas:CNGA3 HGNC:2150 IUPHAR:396 OMIM:600053 SwissProt:Q16281 CNGA3 cyclic nucleotide gated channel subunit alpha 3 8q21.3 ClinVar:CNGB3 Ensembl:ENSG00000170289 Genatlas:CNGB3 HGNC:2153 IUPHAR:399 OMIM:605080 SwissProt:Q9NQW8 CNGB3 cyclic nucleotide gated channel subunit beta 3 14q12 COCH-5B2 ClinVar:COCH Ensembl:ENSG00000100473 Genatlas:COCH HGNC:2180 OMIM:603196 SwissProt:O43405 COCH cochlin 16p12.2 ClinVar:COG7 Ensembl:ENSG00000168434 Genatlas:COG7 HGNC:18622 OMIM:606978 Reactome:P83436 SwissProt:P83436 COG7 component of oligomeric golgi complex 7 6q22.1 Schmid metaphyseal chondrodysplasia ClinVar:COL10A1 Ensembl:ENSG00000123500 Genatlas:COL10A1 HGNC:2185 OMIM:120110 Reactome:Q03692 SwissProt:Q03692 COL10A1 collagen type X alpha 1 chain 1p21.1 CO11A1 STL2 collagen XI, alpha-1 polypeptide ClinVar:COL11A1 Ensembl:ENSG00000060718 Genatlas:COL11A1 HGNC:2186 OMIM:120280 Reactome:P12107 SwissProt:P12107 COL11A1 collagen type XI alpha 1 chain 6p21.32 HKE5 ClinVar:COL11A2 Ensembl:ENSG00000204248 Genatlas:COL11A2 HGNC:2187 OMIM:120290 Reactome:P13942 SwissProt:P13942 COL11A2 collagen type XI alpha 2 chain 10q25.1 BP180 ClinVar:COL17A1 Ensembl:ENSG00000065618 Genatlas:COL17A1 HGNC:2194 OMIM:113811 Reactome:Q9UMD9 SwissProt:Q9UMD9 COL17A1 collagen type XVII alpha 1 chain Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term). Orphanet ICD-10:Q25.5 ICD-11:LA88.21 MeSH:C562833 OMIM:178370 UMLS:C0344976 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1207 Pulmonary atresia with ventricular septal defect ORPHA:1207 ICD-10:Q25.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA88.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562833 E (Exact mapping: the two concepts are equivalent) OMIM:178370 E (Exact mapping: the two concepts are equivalent) UMLS:C0344976 E (Exact mapping: the two concepts are equivalent) 21q22.3 KNO1 KS endostatin ClinVar:COL18A1 Ensembl:ENSG00000182871 Genatlas:COL18A1 HGNC:2195 OMIM:120328 Reactome:P39060 SwissProt:P39060 COL18A1 collagen type XVIII alpha 1 chain 17q21.33 OI4 ClinVar:COL1A1 Ensembl:ENSG00000108821 Genatlas:COL1A1 HGNC:2197 OMIM:120150 Reactome:P02452 SwissProt:P02452 COL1A1 collagen type I alpha 1 chain 7q21.3 alpha 2(I)-collagen alpha-2 collagen type I collagen I, alpha-2 polypeptide collagen of skin, tendon and bone, alpha-2 chain type I procollagen ClinVar:COL1A2 Ensembl:ENSG00000164692 Genatlas:COL1A2 HGNC:2198 OMIM:120160 Reactome:P08123 SwissProt:P08123 COL1A2 collagen type I alpha 2 chain 12q13.11 STL1 ClinVar:COL2A1 Ensembl:ENSG00000139219 Genatlas:COL2A1 HGNC:2200 OMIM:120140 Reactome:P02458 SwissProt:P02458 COL2A1 collagen type II alpha 1 chain 2q32.2 ClinVar:COL3A1 Ensembl:ENSG00000168542 Genatlas:COL3A1 HGNC:2201 OMIM:120180 Reactome:P02461 SwissProt:P02461 COL3A1 collagen type III alpha 1 chain 13q34 ClinVar:COL4A1 Ensembl:ENSG00000187498 Genatlas:COL4A1 HGNC:2202 OMIM:120130 Reactome:P02462 SwissProt:P02462 COL4A1 collagen type IV alpha 1 chain 2q36.3 tumstatin ClinVar:COL4A3 Ensembl:ENSG00000169031 Genatlas:COL4A3 HGNC:2204 OMIM:120070 Reactome:Q01955 SwissProt:Q01955 COL4A3 collagen type IV alpha 3 chain 2q36.3 CA44 collagen of basement membrane, alpha-4 chain ClinVar:COL4A4 Ensembl:ENSG00000081052 Genatlas:COL4A4 HGNC:2206 OMIM:120131 Reactome:P53420 SwissProt:P53420 COL4A4 collagen type IV alpha 4 chain Xq22.3 ClinVar:COL4A5 Ensembl:ENSG00000188153 Genatlas:COL4A5 HGNC:2207 OMIM:303630 Reactome:P29400 SwissProt:P29400 COL4A5 collagen type IV alpha 5 chain Xq22.3 ClinVar:COL4A6 Ensembl:ENSG00000197565 Genatlas:COL4A6 HGNC:2208 OMIM:303631 Reactome:Q14031 SwissProt:Q14031 COL4A6 collagen type IV alpha 6 chain 9q34.3 alpha 1 type V collagen ClinVar:COL5A1 Ensembl:ENSG00000130635 Genatlas:COL5A1 HGNC:2209 OMIM:120215 Reactome:P20908 SwissProt:P20908 COL5A1 collagen type V alpha 1 chain 2q32.2 AB collagen ClinVar:COL5A2 Ensembl:ENSG00000204262 Genatlas:COL5A2 HGNC:2210 OMIM:120190 Reactome:P05997 SwissProt:P05997 COL5A2 collagen type V alpha 2 chain 21q22.3 ClinVar:COL6A1 Ensembl:ENSG00000142156 Genatlas:COL6A1 HGNC:2211 OMIM:120220 Reactome:P12109 SwissProt:P12109 COL6A1 collagen type VI alpha 1 chain 21q22.3 ClinVar:COL6A2 Ensembl:ENSG00000142173 Genatlas:COL6A2 HGNC:2212 OMIM:120240 Reactome:P12110 SwissProt:P12110 COL6A2 collagen type VI alpha 2 chain 2q37.3 ClinVar:COL6A3 Ensembl:ENSG00000163359 Genatlas:COL6A3 HGNC:2213 OMIM:120250 Reactome:P12111 SwissProt:P12111 COL6A3 collagen type VI alpha 3 chain 3p21.31 LC collagen collagen VII, alpha-1 polypeptide ClinVar:COL7A1 Ensembl:ENSG00000114270 Genatlas:COL7A1 HGNC:2214 OMIM:120120 Reactome:Q02388 SwissProt:Q02388 COL7A1 collagen type VII alpha 1 chain 1p34.3 FECD1 PPCD PPCD2 ClinVar:COL8A2 Ensembl:ENSG00000171812 Genatlas:COL8A2 HGNC:2216 OMIM:120252 Reactome:P25067 SwissProt:P25067 COL8A2 collagen type VIII alpha 2 chain 6q13 ClinVar:COL9A1 Ensembl:ENSG00000112280 Genatlas:COL9A1 HGNC:2217 OMIM:120210 Reactome:P20849 SwissProt:P20849 COL9A1 collagen type IX alpha 1 chain 1p34.2 MED ClinVar:COL9A2 Ensembl:ENSG00000049089 Genatlas:COL9A2 HGNC:2218 OMIM:120260 Reactome:Q14055 SwissProt:Q14055 COL9A2 collagen type IX alpha 2 chain 20q13.33 DJ885L7.4.1 EDM3 FLJ90759 IDD MED collagen type IX proteoglycan ClinVar:COL9A3 Ensembl:ENSG00000092758 Genatlas:COL9A3 HGNC:2219 OMIM:120270 Reactome:Q14050 SwissProt:Q14050 COL9A3 collagen type IX alpha 3 chain 3p25.1 AChE Q subunit EAD acetylcholinesterase-associated collagen collagenic tail of endplate acetylcholinesterase single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase ClinVar:COLQ Ensembl:ENSG00000206561 Genatlas:COLQ HGNC:2226 OMIM:603033 SwissProt:Q9Y215 COLQ collagen like tail subunit of asymmetric acetylcholinesterase 19p13.11 MED THBS5 TSP-5 TSP5 multiple epiphyseal dysplasia thrombospondin-5 ClinVar:COMP Ensembl:ENSG00000105664 Genatlas:COMP HGNC:2227 OMIM:600310 Reactome:P49747 SwissProt:P49747 COMP cartilage oligomeric matrix protein 4q21.23 4-hydroxybenzoate polyprenyltransferase CL640 FLJ26072 ClinVar:COQ2 Ensembl:ENSG00000173085 Genatlas:COQ2 HGNC:25223 OMIM:609825 Reactome:Q96H96 SwissProt:Q96H96 COQ2 coenzyme Q2, polyprenyltransferase 17p12 heme O synthase protoheme IX farnesyltransferase, mitochondrial ClinVar:COX10 Ensembl:ENSG00000006695 Genatlas:COX10 HGNC:2260 OMIM:602125 Reactome:Q12887 SwissProt:Q12887 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 10q24.2 CEMCOX2 ClinVar:COX15 Ensembl:ENSG00000014919 Genatlas:COX15 HGNC:2263 OMIM:603646 Reactome:Q7KZN9 SwissProt:Q7KZN9 COX15 cytochrome c oxidase assembly homolog COX15 3q24-q25.1 AB073614 ferroxidase ClinVar:CP Ensembl:ENSG00000047457 Genatlas:CP HGNC:2295 OMIM:117700 Reactome:P00450 SwissProt:P00450 CP ceruloplasmin 8q13.2 CPAH ClinVar:CPA6 Ensembl:ENSG00000165078 Genatlas:CPA6 HGNC:17245 IUPHAR:1592 OMIM:609562 SwissProt:Q8N4T0 CPA6 carboxypeptidase A6 3q11.2 CPX HCP coproporphyria homozygous coproporphyria ClinVar:CPOX Ensembl:ENSG00000080819 Genatlas:CPOX HGNC:2321 OMIM:612732 Reactome:P36551 SwissProt:P36551 CPOX coproporphyrinogen oxidase 2q34 GATD6 carbamoyl-phosphate synthase (ammonia) ClinVar:CPS1 Ensembl:ENSG00000021826 Genatlas:CPS1 HGNC:2323 OMIM:608307 Reactome:P31327 SwissProt:P31327 CPS1 carbamoyl-phosphate synthase 1 11q13.3 CPT1-L L-CPT1 ClinVar:CPT1A Ensembl:ENSG00000110090 Genatlas:CPT1A HGNC:2328 IUPHAR:3249 OMIM:600528 Reactome:P50416 SwissProt:P50416 CPT1A carnitine palmitoyltransferase 1A 1p32.3 CPTASE ClinVar:CPT2 Ensembl:ENSG00000157184 Genatlas:CPT2 HGNC:2330 IUPHAR:3252 OMIM:600650 Reactome:P23786 SwissProt:P23786 CPT2 carnitine palmitoyltransferase 2 A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation. Orphanet ICD-10:Q22.6 ICD-11:LA8A.10 MeSH:C562832 OMIM:265150 UMLS:C0344975 Antenatal Infancy Neonatal Sweden AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_range : Unknown United Kingdom AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1208 Pulmonary atresia-intact ventricular septum syndrome ORPHA:1208 ICD-10:Q22.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562832 E (Exact mapping: the two concepts are equivalent) OMIM:265150 E (Exact mapping: the two concepts are equivalent) UMLS:C0344975 E (Exact mapping: the two concepts are equivalent) 1q31.3 LCA8 ClinVar:CRB1 Ensembl:ENSG00000134376 Genatlas:CRB1 HGNC:2343 OMIM:604210 Reactome:P82279 SwissProt:P82279 CRB1 crumbs cell polarity complex component 1 3p26.2 MRT2 ClinVar:CRBN Ensembl:ENSG00000113851 Genatlas:CRBN HGNC:30185 IUPHAR:3086 OMIM:609262 SwissProt:Q96SW2 CRBN cereblon 16p13.3 CBP KAT3A RTS ClinVar:CREBBP Ensembl:ENSG00000005339 Genatlas:CREBBP HGNC:2348 IUPHAR:2734 OMIM:600140 Reactome:Q92793 SwissProt:Q92793 CREBBP CREB binding protein 3p25.3 CIRRIN ClinVar:CRELD1 Ensembl:ENSG00000163703 Genatlas:CRELD1 HGNC:14630 OMIM:607170 SwissProt:Q96HD1 CRELD1 cysteine rich with EGF like domains 1 19q13.33 CRD LCA7 OTX3 orthodenticle homeobox 3 ClinVar:CRX Ensembl:ENSG00000105392 Genatlas:CRX HGNC:2383 OMIM:602225 Reactome:O43186 SwissProt:O43186 CRX cone-rod homeobox 21q22.3 HSPB4 ClinVar:CRYAA Ensembl:ENSG00000160202 Genatlas:CRYAA HGNC:2388 OMIM:123580 SwissProt:P02489 CRYAA crystallin alpha A 11q23.1 HSPB5 ClinVar:CRYAB Ensembl:ENSG00000109846 Genatlas:CRYAB HGNC:2389 OMIM:123590 Reactome:P02511 SwissProt:P02511 CRYAB crystallin alpha B 17q11.2 eye lens structural protein ClinVar:CRYBA1 Ensembl:ENSG00000108255 Genatlas:CRYBA1 HGNC:2394 OMIM:123610 Reactome:P05813 SwissProt:P05813 CRYBA1 crystallin beta A1 22q12.1 ClinVar:CRYBA4 Ensembl:ENSG00000196431 Genatlas:CRYBA4 HGNC:2396 OMIM:123631 Reactome:P53673 SwissProt:P53673 CRYBA4 crystallin beta A4 22q11.23 ClinVar:CRYBB2 Ensembl:ENSG00000244752 Genatlas:CRYBB2 HGNC:2398 OMIM:123620 SwissProt:P43320 CRYBB2 crystallin beta B2 22q11.23 ClinVar:CRYBB3 Ensembl:ENSG00000100053 Genatlas:CRYBB3 HGNC:2400 OMIM:123630 SwissProt:P26998 CRYBB3 crystallin beta B3 2q33.3 ClinVar:CRYGC Ensembl:ENSG00000163254 Genatlas:CRYGC HGNC:2410 OMIM:123680 SwissProt:P07315 CRYGC crystallin gamma C 2q33.3 ClinVar:CRYGD Ensembl:ENSG00000118231 Genatlas:CRYGD HGNC:2411 OMIM:123690 SwissProt:P07320 CRYGD crystallin gamma D 22q12.3 CD131 IL5RB beta common cytokine receptor beta-GM-CSF receptor betaGMR ClinVar:CSF2RB Ensembl:ENSG00000100368 Genatlas:CSF2RB HGNC:2436 IUPHAR:2306 OMIM:138981 Reactome:P32927 SwissProt:P32927 CSF2RB colony stimulating factor 2 receptor subunit beta 11p15.1 CLP CMD1M MLP cardiac LIM protein muscle LIM protein ClinVar:CSRP3 Ensembl:ENSG00000129170 Genatlas:CSRP3 HGNC:2472 OMIM:600824 SwissProt:P50461 CSRP3 cysteine and glycine rich protein 3 20p11.21 ClinVar:CST3 Ensembl:ENSG00000101439 Genatlas:CST3 HGNC:2475 OMIM:604312 Reactome:P01034 SwissProt:P01034 CST3 cystatin C 21q22.3 CST6 Epilepsy, progressive myoclonic 1 PME stefin B ClinVar:CSTB Ensembl:ENSG00000160213 Genatlas:CSTB HGNC:2482 OMIM:601145 Reactome:P04080 SwissProt:P04080 CSTB cystatin B 18q23 FCP1 ClinVar:CTDP1 Ensembl:ENSG00000060069 Genatlas:CTDP1 HGNC:2498 OMIM:604927 Reactome:Q9Y5B0 SwissProt:Q9Y5B0 CTDP1 CTD phosphatase subunit 1 1p31.1 CSE ClinVar:CTH Ensembl:ENSG00000116761 Genatlas:CTH HGNC:2501 IUPHAR:1444 OMIM:607657 Reactome:P32929 SwissProt:P32929 CTH cystathionine gamma-lyase 2q33.2 CD CD152 CTLA-4 GSE celiac disease gluten-sensitive enteropathy ClinVar:CTLA4 Ensembl:ENSG00000163599 Genatlas:CTLA4 HGNC:2505 IUPHAR:2743 OMIM:123890 Reactome:P16410 SwissProt:P16410 CTLA4 cytotoxic T-lymphocyte associated protein 4 3p22.1 armadillo beta-catenin ClinVar:CTNNB1 Ensembl:ENSG00000168036 Genatlas:CTNNB1 HGNC:2514 OMIM:116806 Reactome:P35222 SwissProt:P35222 CTNNB1 catenin beta 1 17p13.2 CTNS-LSB PQLC4 SLC66A4 ClinVar:CTNS Ensembl:ENSG00000040531 Genatlas:CTNS HGNC:2518 IUPHAR:3163 OMIM:606272 Reactome:O60931 SwissProt:O60931 CTNS cystinosin, lysosomal cystine transporter 20q13.12 carboxypeptidase C carboxypeptidase Y-like kininase carboxypeptidase-L deamidase lysosomal carboxypeptidase A lysosomal protective protein urinary kininase ClinVar:CTSA Ensembl:ENSG00000064601 Genatlas:CTSA HGNC:9251 IUPHAR:1581 OMIM:613111 Reactome:P10619 SwissProt:P10619 CTSA cathepsin A 11q14.2 DPP1 dipeptidyl peptidase 1 ClinVar:CTSC Ensembl:ENSG00000109861 Genatlas:CTSC HGNC:2528 IUPHAR:2344 OMIM:602365 Reactome:P53634 SwissProt:P53634 CTSC cathepsin C 1q21.3 PKND ClinVar:CTSK Ensembl:ENSG00000143387 Genatlas:CTSK HGNC:2536 IUPHAR:2350 OMIM:601105 Reactome:P43235 SwissProt:P43235 CTSK cathepsin K A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption. Orphanet ICD-10:Q22.4 ICD-11:LA89.1 MeSH:D018785 MedDRA:10049767 OMIM:605067 UMLS:C0243002 Not applicable Antenatal Neonatal Belgium AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 5.5625 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 10.5 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 11.1 AND has_birth_prevalence_range : 1-5 / 10 000 Slovakia AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1209 Tricuspid atresia ORPHA:1209 ICD-10:Q22.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA89.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018785 E (Exact mapping: the two concepts are equivalent) MedDRA:10049767 E (Exact mapping: the two concepts are equivalent) OMIM:605067 E (Exact mapping: the two concepts are equivalent) UMLS:C0243002 E (Exact mapping: the two concepts are equivalent) 10p13 IFCR gp280 intrinsic factor-cobalamin receptor ClinVar:CUBN Ensembl:ENSG00000107611 Genatlas:CUBN HGNC:2548 OMIM:602997 Reactome:O60494 SwissProt:O60494 CUBN cubilin Xq24 ClinVar:CUL4B Ensembl:ENSG00000158290 Genatlas:CUL4B HGNC:2555 OMIM:300304 Reactome:Q13620 SwissProt:Q13620 CUL4B cullin 4B 6p21.1 dJ20C7.5 ClinVar:CUL7 Ensembl:ENSG00000044090 Genatlas:CUL7 HGNC:21024 OMIM:609577 Reactome:Q14999 SwissProt:Q14999 CUL7 cullin 7 2q22.1 CD184 D2S201E HM89 HSY3RR LESTR NPY3R NPYR NPYY3R fusin ClinVar:CXCR4 Ensembl:ENSG00000121966 Genatlas:CXCR4 HGNC:2561 IUPHAR:71 OMIM:162643 Reactome:P61073 SwissProt:P61073 CXCR4 C-X-C motif chemokine receptor 4 18q22.3 MCB5 Microsomal cytochrome b5 ClinVar:CYB5A Ensembl:ENSG00000166347 Genatlas:CYB5A HGNC:2570 OMIM:613218 Reactome:P00167 SwissProt:P00167 CYB5A cytochrome b5 type A 22q13.2 B5R NADH-cytochrome b5 reductase 3 ClinVar:CYB5R3 Ensembl:ENSG00000100243 Genatlas:CYB5R3 HGNC:2873 OMIM:613213 Reactome:P00387 SwissProt:P00387 CYB5R3 cytochrome b5 reductase 3 Xp21.1-p11.4 Cytochrome b-245 heavy chain Cytochrome b558 subunit beta GP91-PHOX GP91PHOX NADPH oxidase 2 NOX2 p91-PHOX ClinVar:CYBB Ensembl:ENSG00000165168 Genatlas:CYBB HGNC:2578 IUPHAR:3002 OMIM:300481 Reactome:P04839 SwissProt:P04839 CYBB cytochrome b-245 beta chain 16q12.1 KIAA0849 USPL2 ubiquitin specific peptidase like 2 ClinVar:CYLD Ensembl:ENSG00000083799 Genatlas:CYLD HGNC:2584 OMIM:605018 Reactome:Q9NQC7 SwissProt:Q9NQC7 CYLD CYLD lysine 63 deubiquitinase 15q24.1 P450SCC cholesterol monooxygenase (side-chain-cleaving) ClinVar:CYP11A1 Ensembl:ENSG00000140459 Genatlas:CYP11A1 HGNC:2590 IUPHAR:1358 OMIM:118485 Reactome:P05108 SwissProt:P05108 CYP11A1 cytochrome P450 family 11 subfamily A member 1 8q24.3 CPN1 FHI P450C11 steroid 11-beta-monooxygenase ClinVar:CYP11B1 Ensembl:ENSG00000160882 Genatlas:CYP11B1 HGNC:2591 IUPHAR:1359 OMIM:610613 Reactome:P15538 SwissProt:P15538 CYP11B1 cytochrome P450 family 11 subfamily B member 1 8q24.3 ALDOS CPN2 CYP11BL P-450C18 P450aldo steroid 11-beta-monooxygenase ClinVar:CYP11B2 Ensembl:ENSG00000179142 Genatlas:CYP11B2 HGNC:2592 IUPHAR:1360 OMIM:124080 Reactome:P19099 SwissProt:P19099 CYP11B2 cytochrome P450 family 11 subfamily B member 2 10q24.32 CPT7 P450C17 S17AH Steroid 17-alpha-monooxygenase ClinVar:CYP17A1 Ensembl:ENSG00000148795 Genatlas:CYP17A1 HGNC:2593 IUPHAR:1361 OMIM:609300 Reactome:P05093 SwissProt:P05093 CYP17A1 cytochrome P450 family 17 subfamily A member 1 15q21.2 ARO ARO1 CPV1 CYAR P-450AROM aromatase ClinVar:CYP19A1 Ensembl:ENSG00000137869 Genatlas:CYP19A1 HGNC:2594 IUPHAR:1362 OMIM:107910 Reactome:P11511 SwissProt:P11511 CYP19A1 cytochrome P450 family 19 subfamily A member 1 2p22.2 CP1B ClinVar:CYP1B1 Ensembl:ENSG00000138061 Genatlas:CYP1B1 HGNC:2597 IUPHAR:1320 OMIM:601771 Reactome:Q16678 SwissProt:Q16678 CYP1B1 cytochrome P450 family 1 subfamily B member 1 6p21.33 CA21H CAH1 CPS1 P450c21B Steroid 21-monooxygenase ClinVar:CYP21A2 Ensembl:ENSG00000231852 Genatlas:CYP21A2 HGNC:2600 IUPHAR:1364 OMIM:613815 Reactome:P08686 SwissProt:P08686 CYP21A2 cytochrome P450 family 21 subfamily A member 2 2q35 CP27 CTX cerebrotendinous xanthomatosis ClinVar:CYP27A1 Ensembl:ENSG00000135929 Genatlas:CYP27A1 HGNC:2605 IUPHAR:1369 OMIM:606530 Reactome:Q02318 SwissProt:Q02318 CYP27A1 cytochrome P450 family 27 subfamily A member 1 12q14.1 1alpha(OH)ase 25-Hydroxyvitamin D3 1alpha-hydroxylase CYP1 Calcidiol 1-monooxygenase P450c1 VDDR I ClinVar:CYP27B1 Ensembl:ENSG00000111012 Genatlas:CYP27B1 HGNC:2606 IUPHAR:1370 OMIM:609506 Reactome:O15528 SwissProt:O15528 CYP27B1 cytochrome P450 family 27 subfamily B member 1 11p15.2 Vitamin D 25-hydroxylase ClinVar:CYP2R1 Ensembl:ENSG00000186104 Genatlas:CYP2R1 HGNC:20580 IUPHAR:1333 OMIM:608713 Reactome:Q6VVX0 SwissProt:Q6VVX0 CYP2R1 cytochrome P450 family 2 subfamily R member 1 4q35.1-q35.2 CYP4AH1 ClinVar:CYP4V2 Ensembl:ENSG00000145476 Genatlas:CYP4V2 HGNC:23198 IUPHAR:1350 OMIM:608614 Reactome:Q6ZWL3 SwissProt:Q6ZWL3 CYP4V2 cytochrome P450 family 4 subfamily V member 2 8q12.3 ClinVar:CYP7B1 Ensembl:ENSG00000172817 Genatlas:CYP7B1 HGNC:2652 IUPHAR:1355 OMIM:603711 Reactome:O75881 SwissProt:O75881 CYP7B1 cytochrome P450 family 7 subfamily B member 1 2q37.3 D2HGD FLJ42195 MGC25181 ClinVar:D2HGDH Ensembl:ENSG00000180902 Genatlas:D2HGDH HGNC:28358 OMIM:609186 Reactome:Q8N465 SwissProt:Q8N465 D2HGDH D-2-hydroxyglutarate dehydrogenase Yq11.223 SPGY ClinVar:DAZ1 Ensembl:ENSG00000188120 Genatlas:DAZ1 HGNC:2682 OMIM:400003 SwissProt:Q9NQZ3 DAZ1 deleted in azoospermia 1 Yq11.223 MGC126442 pDP1678 ClinVar:DAZ2 Ensembl:ENSG00000205944 Genatlas:DAZ2 HGNC:15964 OMIM:400026 SwissProt:Q13117 DAZ2 deleted in azoospermia 2 Yq11.23 ClinVar:DAZ3 Ensembl:ENSG00000187191 Genatlas:DAZ3 HGNC:15965 OMIM:400027 SwissProt:Q9NR90 DAZ3 deleted in azoospermia 3 Yq11.23 ClinVar:DAZ4 Ensembl:ENSG00000205916 Genatlas:DAZ4 HGNC:15966 OMIM:400048 SwissProt:Q86SG3 DAZ4 deleted in azoospermia 4 9q34.2 DBM dopamine beta-monooxygenase ClinVar:DBH Ensembl:ENSG00000123454 Genatlas:DBH HGNC:2689 IUPHAR:2486 OMIM:609312 Reactome:P09172 SwissProt:P09172 DBH dopamine beta-hydroxylase 1p21.2 BCKAD-E2 BCKDH-E2 BCOADC-E2 branched chain 2-oxo-acid dehydrogenase complex component E2 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial ClinVar:DBT Ensembl:ENSG00000137992 Genatlas:DBT HGNC:2698 OMIM:248610 Reactome:P11182 SwissProt:P11182 DBT dihydrolipoamide branched chain transacylase E2 10p13 A-SCID ARTEMIS FLJ11360 PSO2 homolog (S. cerevisiae) SNM1C ClinVar:DCLRE1C Ensembl:ENSG00000152457 Genatlas:DCLRE1C HGNC:17642 OMIM:605988 Reactome:Q96SD1 SwissProt:Q96SD1 DCLRE1C DNA cross-link repair 1C 12q21.33 DSPG2 SLRR1B decorin proteoglycan ClinVar:DCN Ensembl:ENSG00000011465 Genatlas:DCN HGNC:2705 OMIM:125255 Reactome:P07585 SwissProt:P07585 DCN decorin Xq23 DBCN DC LISX SCLH XLIS doublecortex ClinVar:DCX Ensembl:ENSG00000077279 Genatlas:DCX HGNC:2714 OMIM:300121 Reactome:O43602 SwissProt:O43602 DCX doublecortin 11p11.2 DDB p48 subunit DDBB FLJ34321 UV-DDB2 UV-damaged DNA-binding protein 2 XPE xeroderma pigmentosum group E protein ClinVar:DDB2 Ensembl:ENSG00000134574 Genatlas:DDB2 HGNC:2718 OMIM:600811 Reactome:Q92466 SwissProt:Q92466 DDB2 damage specific DNA binding protein 2 7p12.2-p12.1 AADC aromatic L-amino acid decarboxylase ClinVar:DDC Ensembl:ENSG00000132437 Genatlas:DDC HGNC:2719 IUPHAR:1271 OMIM:107930 Reactome:P20711 SwissProt:P20711 DDC dopa decarboxylase 2q35 CMD1I CSM1 CSM2 LGMD2R cardiomyopathy, dilated 1I intermediate filament protein ClinVar:DES Ensembl:ENSG00000175084 Genatlas:DES HGNC:2770 OMIM:125660 Reactome:P17661 SwissProt:P17661 DES desmin 7p15.3 ICERE-1 inversely correlated with estrogen receptor expression ClinVar:DFNA5 Ensembl:ENSG00000105928 Genatlas:DFNA5 HGNC:2810 OMIM:608798 SwissProt:O60443 GSDME gasdermin E 2p13.1 dGK ClinVar:DGUOK Ensembl:ENSG00000114956 Genatlas:DGUOK HGNC:2858 OMIM:601465 Reactome:Q16854 SwissProt:Q16854 DGUOK deoxyguanosine kinase 1p32.3 3beta-hydroxysterol delta24 reductase Delta(24)-sterol reductase KIAA0018 seladin-1 ClinVar:DHCR24 Ensembl:ENSG00000116133 Genatlas:DHCR24 HGNC:2859 OMIM:606418 Reactome:Q15392 SwissProt:Q15392 DHCR24 24-dehydrocholesterol reductase 11q13.4 ClinVar:DHCR7 Ensembl:ENSG00000172893 Genatlas:DHCR7 HGNC:2860 OMIM:602858 Reactome:Q9UBM7 SwissProt:Q9UBM7 DHCR7 7-dehydrocholesterol reductase 12q13.12 HHG-3 MGC35145 ClinVar:DHH Ensembl:ENSG00000139549 Genatlas:DHH HGNC:2865 OMIM:605423 Reactome:O43323 SwissProt:O43323 DHH desert hedgehog signaling molecule 5q31.3 LFHL1 hDIA1 mDia1 mammalian diaphanous related formin 1 ClinVar:DIAPH1 Ensembl:ENSG00000131504 Genatlas:DIAPH1 HGNC:2876 OMIM:602121 Reactome:O60610 SwissProt:O60610 DIAPH1 diaphanous related formin 1 Xq28 Cbf5 H/ACA ribonucleoprotein complex subunit 4 NAP57 NOLA4 XAP101 dyskerin ClinVar:DKC1 Ensembl:ENSG00000130826 Genatlas:DKC1 HGNC:2890 OMIM:300126 Reactome:O60832 SwissProt:O60832 DKC1 dyskerin pseudouridine synthase 1 11q23.1 E2 E2 component of pyruvate dehydrogenase complex PDC-E2 dihydrolipoyllysine-residue acetyltransferase ClinVar:DLAT Ensembl:ENSG00000150768 Genatlas:DLAT HGNC:2896 OMIM:608770 Reactome:P10515 SwissProt:P10515 DLAT dihydrolipoamide S-acetyltransferase This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atrichia with papular lesions OBSOLETE: Atrichia-intellectual disability and growth delay syndrome ORPHA:1211 7q31.1 DLDH E3 E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex OGDC-E3 ClinVar:DLD Ensembl:ENSG00000091140 Genatlas:DLD HGNC:2898 OMIM:238331 Reactome:P09622 SwissProt:P09622 DLD dihydrolipoamide dehydrogenase 19q13.2 SCDO1 ClinVar:DLL3 Ensembl:ENSG00000090932 Genatlas:DLL3 HGNC:2909 OMIM:602768 SwissProt:Q9NYJ7 DLL3 delta like canonical Notch ligand 3 17q21.33 ClinVar:DLX3 Ensembl:ENSG00000064195 Genatlas:DLX3 HGNC:2916 OMIM:600525 SwissProt:O60479 DLX3 distal-less homeobox 3 Xp21.2-p21.1 BMD DXS142 DXS164 DXS206 DXS230 DXS239 DXS268 DXS269 DXS270 DXS272 muscular dystrophy, Duchenne and Becker types ClinVar:DMD Ensembl:ENSG00000198947 Genatlas:DMD HGNC:2928 OMIM:300377 Reactome:P11532 SwissProt:P11532 DMD dystrophin 4q22.1 ClinVar:DMP1 Ensembl:ENSG00000152592 Genatlas:DMP1 HGNC:2932 OMIM:600980 Reactome:Q13316 SwissProt:Q13316 DMP1 dentin matrix acidic phosphoprotein 1 19q13.32 DM protein kinase DM1PK DMK MDPK MT-PK Myotonin-protein kinase dystrophia myotonica 1 myotonic dystrophy associated protein kinase myotonin protein kinase A thymopoietin homolog ClinVar:DMPK Ensembl:ENSG00000104936 Genatlas:DMPK HGNC:2933 IUPHAR:1505 OMIM:605377 Reactome:Q09013 SwissProt:Q09013 DMPK DM1 protein kinase 7p15.3 CILD7 DNAHBL DNAHC11 DNHBL DPL11 Dnahc11 dynein, ciliary, heavy chain 11 dynein, heavy chain beta-like ClinVar:DNAH11 Ensembl:ENSG00000105877 Genatlas:DNAH11 HGNC:2942 OMIM:603339 SwissProt:Q96DT5 DNAH11 dynein axonemal heavy chain 11 5p15.2 CILD3 Dnahc5 HL1 KTGNR PCD dynein heavy chain 5 ClinVar:DNAH5 Ensembl:ENSG00000039139 Genatlas:DNAH5 HGNC:2950 OMIM:603335 SwissProt:Q8TE73 DNAH5 dynein axonemal heavy chain 5 9p13.3 CILD1 DIC1 PCD oda6 ClinVar:DNAI1 Ensembl:ENSG00000122735 Genatlas:DNAI1 HGNC:2954 OMIM:604366 SwissProt:Q9UI46 DNAI1 dynein axonemal intermediate chain 1 19p13.2 CMT2M CMTDI1 CMTDIB DI-CMTB DYN2 DYNII cytoskeletal protein dynamin II ClinVar:DNM2 Ensembl:ENSG00000079805 Genatlas:DNM2 HGNC:2974 OMIM:602378 Reactome:P50570 SwissProt:P50570 DNM2 dynamin 2 20q11.21 ClinVar:DNMT3B Ensembl:ENSG00000088305 Genatlas:DNMT3B HGNC:2979 OMIM:602900 Reactome:Q9UBC3 SwissProt:Q9UBC3 DNMT3B DNA methyltransferase 3 beta 4p16.3 Dok-7 FLJ33718 FLJ39137 ClinVar:DOK7 Ensembl:ENSG00000175920 Genatlas:DOK7 HGNC:26594 OMIM:610285 Reactome:Q18PE1 SwissProt:Q18PE1 DOK7 docking protein 7 11q23.3 ALG7 CDG-Ij D11S366 DGPT GPT GlcNAc-1-P transferase 1 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ClinVar:DPAGT1 Ensembl:ENSG00000172269 Genatlas:DPAGT1 HGNC:2995 OMIM:191350 Reactome:Q9H3H5 SwissProt:Q9H3H5 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 20q13.13 CDGIE DPM synthase complex, catalytic subunit MPDS ClinVar:DPM1 Ensembl:ENSG00000000419 Genatlas:DPM1 HGNC:3005 OMIM:603503 Reactome:O60762 SwissProt:O60762 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic 1p21.3 DHPDHase DPD Dihydrothymine dehydrogenase Dihydrouracil dehydrogenase ClinVar:DPYD Ensembl:ENSG00000188641 Genatlas:DPYD HGNC:3012 IUPHAR:3102 OMIM:612779 Reactome:Q12882 SwissProt:Q12882 DPYD dihydropyrimidine dehydrogenase 8q22.3 DHPase ClinVar:DPYS Ensembl:ENSG00000147647 Genatlas:DPYS HGNC:3013 OMIM:613326 Reactome:Q14117 SwissProt:Q14117 DPYS dihydropyrimidinase 11q23.2 D2R dopamine D2 receptor ClinVar:DRD2 Ensembl:ENSG00000149295 Genatlas:DRD2 HGNC:3023 IUPHAR:215 OMIM:126450 Reactome:P14416 SwissProt:P14416 DRD2 dopamine receptor D2 18q12.1 CDHF2 ClinVar:DSC2 Ensembl:ENSG00000134755 Genatlas:DSC2 HGNC:3036 OMIM:125645 Reactome:Q02487 SwissProt:Q02487 DSC2 desmocollin 2 18q12.1 CDHF4 ClinVar:DSG1 Ensembl:ENSG00000134760 Genatlas:DSG1 HGNC:3048 OMIM:125670 Reactome:Q02413 SwissProt:Q02413 DSG1 desmoglein 1 18q12.1 CDHF5 ClinVar:DSG2 Ensembl:ENSG00000046604 Genatlas:DSG2 HGNC:3049 OMIM:125671 Reactome:Q14126 SwissProt:Q14126 DSG2 desmoglein 2 6p24.3 DPI DPII KPPS2 PPKS2 ClinVar:DSP Ensembl:ENSG00000096696 Genatlas:DSP HGNC:3052 OMIM:125647 Reactome:P15924 SwissProt:P15924 DSP desmoplakin 4q22.1 DMP3 ClinVar:DSPP Ensembl:ENSG00000152591 Genatlas:DSPP HGNC:3054 OMIM:125485 Reactome:Q9NZW4 SwissProt:Q9NZW4 DSPP dentin sialophosphoprotein 18q12.1 D18S892E DRP3 DTN DTN-1 DTN-2 DTN-3 dystrophin-related protein 3 ClinVar:DTNA Ensembl:ENSG00000134769 Genatlas:DTNA HGNC:3057 OMIM:601239 Reactome:Q9Y4J8 SwissProt:Q9Y4J8 DTNA dystrobrevin alpha 6p22.3 BLOC1S8 DBND Dysbindin HPS7 My031 biogenesis of lysosomal organelles complex-1, subunit 8 dysbindin-1 ClinVar:DTNBP1 Ensembl:ENSG00000047579 Genatlas:DTNBP1 HGNC:17328 OMIM:607145 Reactome:Q96EV8 SwissProt:Q96EV8 DTNBP1 dystrobrevin binding protein 1 15q21.1 LNOX2 NADH/NADPH thyroid oxidase p138-tox NADPH oxidase/peroxidase DUOX2 NADPH thyroid oxidase 2 P138(TOX) P138-TOX THOX2 dual oxidase-like domains 2 flavoprotein NADPH oxidase nicotinamide adenine dinucleotide phosphate oxidase ClinVar:DUOX2 Ensembl:ENSG00000140279 Genatlas:DUOX2 HGNC:13273 IUPHAR:2999 OMIM:606759 Reactome:Q9NRD8 SwissProt:Q9NRD8 DUOX2 dual oxidase 2 4q35.2 Ensembl:ENSG00000280757 HGNC:3082 DUX4L1 double homeobox 4 like 1 (pseudogene) 18q21.1 DMC FLJ20071 SMC ClinVar:DYM Ensembl:ENSG00000141627 Genatlas:DYM HGNC:21317 OMIM:607461 SwissProt:Q7RTS9 DYM dymeclin 2p13.2 FER1L1 fer-1-like family member 1 ClinVar:DYSF Ensembl:ENSG00000135636 Genatlas:DYSF HGNC:3097 OMIM:603009 Reactome:O75923 SwissProt:O75923 DYSF dysferlin Xp11.23 3-beta-hydroxysteroid-delta-8,delta-7-isomerase CHO2 CPX CPXD Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) sterol 8-isomerase ClinVar:EBP Ensembl:ENSG00000147155 Genatlas:EBP HGNC:3133 OMIM:300205 Reactome:Q15125 SwissProt:Q15125 EBP EBP cholestenol delta-isomerase 1p36.12 ClinVar:ECE1 Ensembl:ENSG00000117298 Genatlas:ECE1 HGNC:3146 IUPHAR:1615 OMIM:600423 Reactome:P42892 SwissProt:P42892 ECE1 endothelin converting enzyme 1 1q21.2 ClinVar:ECM1 Ensembl:ENSG00000143369 Genatlas:ECM1 HGNC:3153 OMIM:602201 Reactome:Q16610 SwissProt:Q16610 ECM1 extracellular matrix protein 1 Xq13.1 ED1-A1 ED1-A2 EDA-A1 EDA-A2 EDA1 HED XHED XLHED ClinVar:EDA Ensembl:ENSG00000158813 Genatlas:EDA HGNC:3157 OMIM:300451 Reactome:Q92838 SwissProt:Q92838 EDA ectodysplasin A 2q13 ED1R ED5 EDA1R EDA3 Edar Tumor necrosis factor receptor superfamily member EDAR ectodysplasin A1 receptor ClinVar:EDAR Ensembl:ENSG00000135960 Genatlas:EDAR HGNC:2895 IUPHAR:2325 OMIM:604095 Reactome:Q9UNE0 SwissProt:Q9UNE0 EDAR ectodysplasin A receptor 1q42.3-q43 CR Ectodysplasin-A receptor-associated adapter protein crinkled ClinVar:EDARADD Ensembl:ENSG00000186197 Genatlas:EDARADD HGNC:14341 OMIM:606603 Reactome:Q8WWZ3 SwissProt:Q8WWZ3 EDARADD EDAR associated via death domain 20q13.32 ET3 ClinVar:EDN3 Ensembl:ENSG00000124205 Genatlas:EDN3 HGNC:3178 OMIM:131242 Reactome:P14138 SwissProt:P14138 EDN3 endothelin 3 13q22.3 ETB ClinVar:EDNRB Ensembl:ENSG00000136160 Genatlas:EDNRB HGNC:3180 IUPHAR:220 OMIM:131244 Reactome:P24530 SwissProt:P24530 EDNRB endothelin receptor type B 2p16.1 FBLN3 MTLV S1-5 fibulin 3 ClinVar:EFEMP1 Ensembl:ENSG00000115380 Genatlas:EFEMP1 HGNC:3218 OMIM:601548 Reactome:Q12805 SwissProt:Q12805 EFEMP1 EGF containing fibulin extracellular matrix protein 1 11q13.1 FBLN4 UPH1 fibulin 4 ClinVar:EFEMP2 Ensembl:ENSG00000172638 Genatlas:EFEMP2 HGNC:3219 OMIM:604633 Reactome:O95967 SwissProt:O95967 EFEMP2 EGF containing fibulin extracellular matrix protein 2 6p12.2 FLJ10466 POC9 RIB72 myoclonin-1 ClinVar:EFHC1 Ensembl:ENSG00000096093 Genatlas:EFHC1 HGNC:16406 OMIM:608815 Reactome:Q5JVL4 SwissProt:Q5JVL4 EFHC1 EF-hand domain containing 1 Xq13.1 EPH-related receptor tyrosine kinase ligand 2 Elk-L LERK2 ClinVar:EFNB1 Ensembl:ENSG00000090776 Genatlas:EFNB1 HGNC:3226 OMIM:300035 Reactome:P98172 SwissProt:P98172 EFNB1 ephrin B1 7p11.2 ERBB1 ERRP erb-b2 receptor tyrosine kinase 1 erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) ClinVar:EGFR Ensembl:ENSG00000146648 Genatlas:EGFR HGNC:3236 IUPHAR:1797 OMIM:131550 Reactome:P00533 SwissProt:P00533 EGFR epidermal growth factor receptor 10q21.3 Krox-20 homolog, Drosophila ClinVar:EGR2 Ensembl:ENSG00000122877 Genatlas:EGR2 HGNC:3239 OMIM:129010 Reactome:P11161 SwissProt:P11161 EGR2 early growth response 2 2p11.2 PEK PERK PKR-like ER kinase PRKR-like endoplasmic reticulum kinase pancreatic eIF-2alpha kinase ClinVar:EIF2AK3 Ensembl:ENSG00000172071 Genatlas:EIF2AK3 HGNC:3255 IUPHAR:2017 OMIM:604032 Reactome:Q9NZJ5 SwissProt:Q9NZJ5 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 12q24.31 EIF-2B EIF-2Balpha EIF2BA EIF2Balpha ClinVar:EIF2B1 Ensembl:ENSG00000111361 Genatlas:EIF2B1 HGNC:3257 OMIM:606686 Reactome:Q14232 SwissProt:Q14232 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha 14q24.3 EIF-2Bbeta EIF2B EIF2Bbeta ClinVar:EIF2B2 Ensembl:ENSG00000119718 Genatlas:EIF2B2 HGNC:3258 OMIM:606454 Reactome:P49770 SwissProt:P49770 EIF2B2 eukaryotic translation initiation factor 2B subunit beta 1p34.1 EIF-2B EIF2Bgamma ClinVar:EIF2B3 Ensembl:ENSG00000070785 Genatlas:EIF2B3 HGNC:3259 OMIM:606273 Reactome:Q9NR50 SwissProt:Q9NR50 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma 2p23.3 DKFZP586J0119 EIF-2B EIF2B EIF2Bdelta ClinVar:EIF2B4 Ensembl:ENSG00000115211 Genatlas:EIF2B4 HGNC:3260 OMIM:606687 Reactome:Q9UI10 SwissProt:Q9UI10 EIF2B4 eukaryotic translation initiation factor 2B subunit delta 3q27.1 EIF-2B EIF2Bepsilon ClinVar:EIF2B5 Ensembl:ENSG00000145191 Genatlas:EIF2B5 HGNC:3261 OMIM:603945 Reactome:Q13144 SwissProt:Q13144 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon 1p13.2 AMPD isoform M MAD MADA myoadenylate deaminase skeletal muscle AMPD ClinVar:AMPD1 Ensembl:ENSG00000116748 Genatlas:AMPD1 HGNC:468 OMIM:102770 Reactome:P23109 SwissProt:P23109 AMPD1 adenosine monophosphate deaminase 1 11p15.4 erythrocyte-specific AMP deaminase ClinVar:AMPD3 Ensembl:ENSG00000133805 Genatlas:AMPD3 HGNC:470 OMIM:102772 Reactome:Q01432 SwissProt:Q01432 AMPD3 adenosine monophosphate deaminase 3 3p21.31 GCST NKH glycine cleavage system protein T nonketotic hyperglycinemia ClinVar:AMT Ensembl:ENSG00000145020 Genatlas:AMT HGNC:473 OMIM:238310 Reactome:P48728 SwissProt:P48728 AMT aminomethyltransferase 8p11.21 SPH1 ClinVar:ANK1 Ensembl:ENSG00000029534 Genatlas:ANK1 HGNC:492 OMIM:612641 Reactome:P16157 SwissProt:P16157 ANK1 ankyrin 1 4q25-q26 CFAP87 FAP87 ClinVar:ANK2 Ensembl:ENSG00000145362 Genatlas:ANK2 HGNC:493 OMIM:106410 Reactome:Q01484 SwissProt:Q01484 ANK2 ankyrin 2 5p15.2 ANK CPPDD HANK Mineralization regulator ANKH SLC62A1 solute carrier family 62, member 1 ClinVar:ANKH Ensembl:ENSG00000154122 Genatlas:ANKH HGNC:15492 IUPHAR:3046 OMIM:605145 Reactome:Q9HCJ1 SwissProt:Q9HCJ1 ANKH ANKH inorganic pyrophosphate transport regulator 4q21.21 CMG-2 CMG2 FLJ31074 capillary morphogenesis protein 2 ClinVar:ANTXR2 Ensembl:ENSG00000163297 Genatlas:ANTXR2 HGNC:21732 OMIM:608041 Reactome:P58335 SwissProt:P58335 ANTXR2 ANTXR cell adhesion molecule 2 5q14.1 ADTB3A HPS2 beta-3A ClinVar:AP3B1 Ensembl:ENSG00000132842 Genatlas:AP3B1 HGNC:566 OMIM:603401 Reactome:O00203 SwissProt:O00203 AP3B1 adaptor related protein complex 3 subunit beta 1 11q23.3 ClinVar:APOA1 Ensembl:ENSG00000118137 Genatlas:APOA1 HGNC:600 OMIM:107680 Reactome:P02647 SwissProt:P02647 APOA1 apolipoprotein A1 11q23.3 APOA-V RAP3 ClinVar:APOA5 Ensembl:ENSG00000110243 Genatlas:APOA5 HGNC:17288 OMIM:606368 Reactome:Q6Q788 SwissProt:Q6Q788 APOA5 apolipoprotein A5 2p24.1 ApoB-100 ClinVar:APOB Ensembl:ENSG00000084674 Genatlas:APOB HGNC:603 OMIM:107730 Reactome:P04114 SwissProt:P04114 APOB apolipoprotein B 19q13.32 ClinVar:APOC2 Ensembl:ENSG00000234906 Genatlas:APOC2 HGNC:609 OMIM:608083 Reactome:P02655 SwissProt:P02655 APOC2 apolipoprotein C2 19q13.32 ClinVar:APOE Ensembl:ENSG00000130203 Genatlas:APOE HGNC:613 OMIM:107741 Reactome:P02649 SwissProt:P02649 APOE apolipoprotein E 21q21.3 alpha-sAPP peptidase nexin-II ClinVar:APP Ensembl:ENSG00000142192 Genatlas:APP HGNC:620 OMIM:104760 Reactome:P05067 SwissProt:P05067 APP amyloid beta precursor protein Hemifacial atrophy PHA Parry-Romberg syndrome Progressive facial hemiatrophy Romberg syndrome Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Orphanet ICD-10:G51.8 ICD-11:EB61.Y MedDRA:10073006 OMIM:141300 UMLS:C0015458 Not applicable Adolescent Adult Childhood United States AND has_point_prevalence_average_value : 0.143 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1214 Progressive hemifacial atrophy ORPHA:1214 ICD-10:G51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EB61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073006 E (Exact mapping: the two concepts are equivalent) OMIM:141300 E (Exact mapping: the two concepts are equivalent) UMLS:C0015458 E (Exact mapping: the two concepts are equivalent) 16q24.3 ClinVar:APRT Ensembl:ENSG00000198931 Genatlas:APRT HGNC:626 OMIM:102600 Reactome:P07741 SwissProt:P07741 APRT adenine phosphoribosyltransferase 9p21.1 AOA AOA1 EAOH EOAHA FLJ20157 ClinVar:APTX Ensembl:ENSG00000137074 Genatlas:APTX HGNC:15984 OMIM:606350 Reactome:Q7Z2E3 SwissProt:Q7Z2E3 APTX aprataxin 12q13.12 ClinVar:AQP2 Ensembl:ENSG00000167580 Genatlas:AQP2 HGNC:634 IUPHAR:689 OMIM:107777 Reactome:P41181 SwissProt:P41181 AQP2 aquaporin 2 20q13.13 BIG2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 ClinVar:ARFGEF2 Ensembl:ENSG00000124198 Genatlas:ARFGEF2 HGNC:15853 OMIM:605371 Reactome:Q9Y6D5 SwissProt:Q9Y6D5 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 6q23.2 arginase-1 ClinVar:ARG1 Ensembl:ENSG00000118520 Genatlas:ARG1 HGNC:663 IUPHAR:1244 OMIM:608313 Reactome:P05089 SwissProt:P05089 ARG1 arginase 1 13q14.2 ADP-ribosylation factor-like tumor suppressor gene 1 ARLTS1 FLJ33930 ClinVar:ARL11 Ensembl:ENSG00000152213 Genatlas:ARL11 HGNC:24046 OMIM:609351 SwissProt:Q969Q4 ARL11 ADP ribosylation factor like GTPase 11 3q11.2 RP55 ClinVar:ARL6 Ensembl:ENSG00000113966 Genatlas:ARL6 HGNC:13210 OMIM:608845 Reactome:Q9H0F7 SwissProt:Q9H0F7 ARL6 ADP ribosylation factor like GTPase 6 22q13.33 ASA metachromatic leucodystrophy ClinVar:ARSA Ensembl:ENSG00000100299 Genatlas:ARSA HGNC:713 OMIM:607574 Reactome:P15289 SwissProt:P15289 ARSA arylsulfatase A 5q14.1 ASB ClinVar:ARSB Ensembl:ENSG00000113273 Genatlas:ARSB HGNC:714 OMIM:611542 Reactome:P15848 SwissProt:P15848 ARSB arylsulfatase B Xp22.33 chondrodysplasia punctata 1 ClinVar:ARSE Ensembl:ENSG00000157399 Genatlas:ARSE HGNC:719 OMIM:300180 Reactome:P51690 SwissProt:P51690 ARSL arylsulfatase L 22q11.21 ClinVar:ARVCF Ensembl:ENSG00000099889 Genatlas:ARVCF HGNC:728 OMIM:602269 SwissProt:O00192 ARVCF ARVCF delta catenin family member Xp21.3 CT121 EIEE1 ISSX cancer/testis antigen 121 ClinVar:ARX Ensembl:ENSG00000004848 Genatlas:ARX HGNC:18060 OMIM:300382 SwissProt:Q96QS3 ARX aristaless related homeobox 8p22 AC ACDase FLJ21558 PHP32 acid ceramidase acylsphingosine deacylase ClinVar:ASAH1 Ensembl:ENSG00000104763 Genatlas:ASAH1 HGNC:735 IUPHAR:2491 OMIM:613468 Reactome:Q13510 SwissProt:Q13510 ASAH1 N-acylsphingosine amidohydrolase 1 7q11.21 ASAL ClinVar:ASL Ensembl:ENSG00000126522 Genatlas:ASL HGNC:746 OMIM:608310 Reactome:P04424 SwissProt:P04424 ASL argininosuccinate lyase 17p13.2 ACY2 ASP Canavan disease aminoacylase 2 “cytosolic aspartoacylase” ClinVar:ASPA Ensembl:ENSG00000108381 Genatlas:ASPA HGNC:756 OMIM:608034 Reactome:P45381 SwissProt:P45381 ASPA aspartoacylase 1q31.3 ASP Calmbp1 FLJ10517 FLJ10549 ClinVar:ASPM Ensembl:ENSG00000066279 Genatlas:ASPM HGNC:19048 OMIM:605481 Reactome:Q8IZT6 SwissProt:Q8IZT6 ASPM assembly factor for spindle microtubules 9q34.11 CTLN1 ClinVar:ASS1 Ensembl:ENSG00000130707 Genatlas:ASS1 HGNC:758 OMIM:603470 Reactome:P00966 SwissProt:P00966 ASS1 argininosuccinate synthase 1 19p13.3 BNIP-H Cayman ataxia caytaxin ClinVar:ATCAY Ensembl:ENSG00000167654 Genatlas:ATCAY HGNC:779 OMIM:608179 Reactome:Q86WG3 SwissProt:Q86WG3 ATCAY ATCAY kinesin light chain interacting caytaxin 11q22.3 TEL1 TEL1, telomere maintenance 1, homolog (S. cerevisiae) TELO1 ClinVar:ATM Ensembl:ENSG00000149311 Genatlas:ATM HGNC:795 IUPHAR:1934 OMIM:607585 Reactome:Q13315 SwissProt:Q13315 ATM ATM serine/threonine kinase 12p13.31 B37 ClinVar:ATN1 Ensembl:ENSG00000111676 Genatlas:ATN1 HGNC:3033 OMIM:607462 Reactome:P54259 SwissProt:P54259 ATN1 atrophin 1 15q12 ATPVA ATPVC KIAA0566 ClinVar:ATP10A Ensembl:ENSG00000206190 Genatlas:ATP10A HGNC:13542 IUPHAR:862 OMIM:605855 Reactome:O60312 SwissProt:O60312 ATP10A ATPase phospholipid transporting 10A (putative) 1p36.13 CLN12 HSA9947 ClinVar:ATP13A2 Ensembl:ENSG00000159363 Genatlas:ATP13A2 HGNC:30213 IUPHAR:3156 OMIM:610513 Reactome:Q9NQ11 SwissProt:Q9NQ11 ATP13A2 ATPase cation transporting 13A2 1q23.2 FHM2 sodium pump subunit alpha-2 sodium-potassium ATPase catalytic subunit alpha-2 sodium/potassium-transporting ATPase subunit alpha-2 ClinVar:ATP1A2 Ensembl:ENSG00000018625 Genatlas:ATP1A2 HGNC:800 IUPHAR:834 OMIM:182340 Reactome:P50993 SwissProt:P50993 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ADOA+ DOA+ Optic atrophy-deafness-polyneuropathy-myopathy syndrome Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness. Orphanet ICD-10:H47.2 ICD-11:9C40.8 OMIM:125250 OMIM:165199 OMIM:616648 UMLS:C3276549 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1215 Autosomal dominant optic atrophy plus syndrome ORPHA:1215 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:125250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:165199 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616648 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3276549 E (Exact mapping: the two concepts are equivalent) 19q13.2 sodium pump subunit alpha-3 sodium-potassium ATPase catalytic subunit alpha-3 sodium/potassium-transporting ATPase subunit alpha-3 ClinVar:ATP1A3 Ensembl:ENSG00000105409 Genatlas:ATP1A3 HGNC:801 IUPHAR:835 OMIM:182350 Reactome:P13637 SwissProt:P13637 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19p13.3 HLE HNE NE PMN Elastase PMN-E leukocyte elastase medullasin neutrophil elastase polymorphonuclear leukocyte elastase ClinVar:ELANE Ensembl:ENSG00000197561 Genatlas:ELANE HGNC:3309 IUPHAR:2358 OMIM:130130 Reactome:P08246 SwissProt:P08246 ELANE elastase, neutrophil expressed 17p12 FLJ10530 HPC2 tRNase Z (long form) ClinVar:ELAC2 Ensembl:ENSG00000006744 Genatlas:ELAC2 HGNC:14198 OMIM:605367 Reactome:Q9BQ52 SwissProt:Q9BQ52 ELAC2 elaC ribonuclease Z 2 7q11.23 SVAS WBS WS Williams-Beuren syndrome supravalvular aortic stenosis tropoelastin ClinVar:ELN Ensembl:ENSG00000049540 Genatlas:ELN HGNC:3327 OMIM:130160 Reactome:P15502 SwissProt:P15502 ELN elastin 6q14.1 CT118 cancer/testis antigen 118 ClinVar:ELOVL4 Ensembl:ENSG00000118402 Genatlas:ELOVL4 HGNC:14415 OMIM:605512 Reactome:Q9GZR5 SwissProt:Q9GZR5 ELOVL4 ELOVL fatty acid elongase 4 Xq28 LEM domain containing 5 LEMD5 STA ClinVar:EMD Ensembl:ENSG00000102119 Genatlas:EMD HGNC:3331 OMIM:300384 Reactome:P50402 SwissProt:P50402 EMD emerin 10q26.11 ClinVar:EMX2 Ensembl:ENSG00000170370 Genatlas:EMX2 HGNC:3341 OMIM:600035 Reactome:Q04743 SwissProt:Q04743 EMX2 empty spiracles homeobox 2 4q13.3 ClinVar:ENAM Ensembl:ENSG00000132464 Genatlas:ENAM HGNC:3344 OMIM:606585 Reactome:Q9NRM1 SwissProt:Q9NRM1 ENAM enamelin 9q34.11 CD105 END HHT1 ClinVar:ENG Ensembl:ENSG00000106991 Genatlas:ENG HGNC:3349 IUPHAR:2895 OMIM:131195 Reactome:P17813 SwissProt:P17813 ENG endoglin 17p13.2 beta-enolase muscle enriched enolase ClinVar:ENO3 Ensembl:ENSG00000108515 Genatlas:ENO3 HGNC:3354 OMIM:131370 Reactome:P13929 SwissProt:P13929 ENO3 enolase 3 6q23.2 PC-1 PCA1 ClinVar:ENPP1 Ensembl:ENSG00000197594 Genatlas:ENPP1 HGNC:3356 OMIM:173335 Reactome:P22413 SwissProt:P22413 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 22q13.2 KAT3B histone acetyltransferase p300 p300 ClinVar:EP300 Ensembl:ENSG00000100393 Genatlas:EP300 HGNC:3373 IUPHAR:2735 OMIM:602700 Reactome:Q09472 SwissProt:Q09472 EP300 E1A binding protein p300 1p35.3 4.1R ClinVar:EPB41 Ensembl:ENSG00000159023 Genatlas:EPB41 HGNC:3377 IUPHAR:3151 OMIM:130500 Reactome:P11171 SwissProt:P11171 EPB41 erythrocyte membrane protein band 4.1 1p36.12 Hek5 Tyro5 ClinVar:EPHB2 Ensembl:ENSG00000133216 Genatlas:EPHB2 HGNC:3393 IUPHAR:1831 OMIM:600997 Reactome:P29323 SwissProt:P29323 EPHB2 EPH receptor B2 1q42.12 ClinVar:EPHX1 Ensembl:ENSG00000143819 Genatlas:EPHX1 HGNC:3401 OMIM:132810 Reactome:P07099 SwissProt:P07099 EPHX1 epoxide hydrolase 1 6q24.3 LD LDE ClinVar:EPM2A Ensembl:ENSG00000112425 Genatlas:EPM2A HGNC:3413 OMIM:607566 Reactome:O95278 SwissProt:O95278 EPM2A EPM2A glucan phosphatase, laforin 19p13.2 EPO-R ClinVar:EPOR Ensembl:ENSG00000187266 Genatlas:EPOR HGNC:3416 IUPHAR:1718 OMIM:133171 Reactome:P19235 SwissProt:P19235 EPOR erythropoietin receptor 12p13.33 CAST2 ELKS KIAA1081 MGC12974 ClinVar:ERC1 Ensembl:ENSG00000082805 Genatlas:ERC1 HGNC:17072 OMIM:607127 SwissProt:Q8IUD2 ERC1 ELKS/RAB6-interacting/CAST family member 1 19q13.32 EM9 MAG MGC102762 MGC126218 MGC126219 TFIIH TFIIH basal transcription factor complex helicase XPB subunit excision repair cross-complementing rodent repair deficiency, complementation group 2 protein ClinVar:ERCC2 Ensembl:ENSG00000104884 Genatlas:ERCC2 HGNC:3434 OMIM:126340 Reactome:P18074 SwissProt:P18074 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 16p13.12 FANCQ RAD1 xeroderma pigmentosum, complementation group F ClinVar:ERCC4 Ensembl:ENSG00000175595 Genatlas:ERCC4 HGNC:3436 OMIM:133520 Reactome:Q92889 SwissProt:Q92889 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit 10q11.23 ARMD5 CSB Cockayne syndrome B protein RAD26 ClinVar:ERCC6 Ensembl:ENSG00000225830 Genatlas:ERCC6 HGNC:3438 OMIM:609413 Reactome:Q03468 SwissProt:Q03468 ERCC6 ERCC excision repair 6, chromatin remodeling factor Autosomal dominant benign distal spinal muscular atrophy Congenital benign spinal muscular atrophy with contractures Congenital nonprogressive spinal muscular atrophy A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated. Orphanet ICD-10:G12.1 ICD-11:8B61.4 MeSH:C563981 OMIM:600175 UMLS:C1838492 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1216 Autosomal dominant congenital benign spinal muscular atrophy ORPHA:1216 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563981 E (Exact mapping: the two concepts are equivalent) OMIM:600175 E (Exact mapping: the two concepts are equivalent) UMLS:C1838492 E (Exact mapping: the two concepts are equivalent) 5q12.1 CSA ClinVar:ERCC8 Ensembl:ENSG00000049167 Genatlas:ERCC8 HGNC:3439 OMIM:609412 Reactome:Q13216 SwissProt:Q13216 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 21q22.2 ETS-related gene TMPRSS2-ERG prostate cancer specific erg-3 p55 transcriptional regulator ERG (transforming protein ERG) v-ets erythroblastosis virus E26 oncogene like ClinVar:ERG Ensembl:ENSG00000157554 Genatlas:ERG HGNC:3446 OMIM:165080 Reactome:P11308 SwissProt:P11308 ERG ETS transcription factor ERG 8p21.1 EFO2 ClinVar:ESCO2 Ensembl:ENSG00000171320 Genatlas:ESCO2 HGNC:27230 OMIM:609353 Reactome:Q56NI9 SwissProt:Q56NI9 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 6q25.1-q25.2 E2 receptor alpha ER ER-alpha Era NR3A1 estradiol receptor estrogen receptor alpha nuclear receptor subfamily 3 group A member 1 oestrogen receptor alpha ClinVar:ESR1 Ensembl:ENSG00000091831 Genatlas:ESR1 HGNC:3467 IUPHAR:620 OMIM:133430 Reactome:P03372 SwissProt:P03372 ESR1 estrogen receptor 1 15q24.2-q24.3 EMA GA2 MADD glutaric aciduria II multiple acyl-CoA dehydrogenase deficiency ClinVar:ETFA Ensembl:ENSG00000140374 Genatlas:ETFA HGNC:3481 OMIM:608053 Reactome:P13804 SwissProt:P13804 ETFA electron transfer flavoprotein subunit alpha 19q13.41 ClinVar:ETFB Ensembl:ENSG00000105379 Genatlas:ETFB HGNC:3482 OMIM:130410 Reactome:P38117 SwissProt:P38117 ETFB electron transfer flavoprotein subunit beta 4q32.1 ETFQO ClinVar:ETFDH Ensembl:ENSG00000171503 Genatlas:ETFDH HGNC:3483 OMIM:231675 Reactome:Q16134 SwissProt:Q16134 ETFDH electron transfer flavoprotein dehydrogenase 19q13.31 HSCO YF13H12 ClinVar:ETHE1 Ensembl:ENSG00000105755 Genatlas:ETHE1 HGNC:23287 OMIM:608451 Reactome:O95571 SwissProt:O95571 ETHE1 ETHE1 persulfide dioxygenase 7p21.2 ER81 ClinVar:ETV1 Ensembl:ENSG00000006468 Genatlas:ETV1 HGNC:3490 OMIM:600541 Reactome:P50549 SwissProt:P50549 ETV1 ETS variant transcription factor 1 4p16.2 DWF-1 EVC1 ClinVar:EVC Ensembl:ENSG00000072840 Genatlas:EVC HGNC:3497 OMIM:604831 Reactome:P57679 SwissProt:P57679 EVC EvC ciliary complex subunit 1 4p16.2 LBN limbin ClinVar:EVC2 Ensembl:ENSG00000173040 Genatlas:EVC2 HGNC:19747 OMIM:607261 Reactome:Q86UK5 SwissProt:Q86UK5 EVC2 EvC ciliary complex subunit 2 22q12.2 EWS ClinVar:EWSR1 Ensembl:ENSG00000182944 Genatlas:EWSR1 HGNC:3508 OMIM:133450 Reactome:Q01844 SwissProt:Q01844 EWSR1 EWS RNA binding protein 1 8q24.11 Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase ttv ClinVar:EXT1 Ensembl:ENSG00000182197 Genatlas:EXT1 HGNC:3512 OMIM:608177 Reactome:Q16394 SwissProt:Q16394 EXT1 exostosin glycosyltransferase 1 11p11.2 Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase SOTV ClinVar:EXT2 Ensembl:ENSG00000151348 Genatlas:EXT2 HGNC:3513 OMIM:608210 Reactome:Q93063 SwissProt:Q93063 EXT2 exostosin glycosyltransferase 2 8q13.3 ClinVar:EYA1 Ensembl:ENSG00000104313 Genatlas:EYA1 HGNC:3519 OMIM:601653 Reactome:Q99502 SwissProt:Q99502 EYA1 EYA transcriptional coactivator and phosphatase 1 6q23.2 ClinVar:EYA4 Ensembl:ENSG00000112319 Genatlas:EYA4 HGNC:3522 OMIM:603550 Reactome:O95677 SwissProt:O95677 EYA4 EYA transcriptional coactivator and phosphatase 4 13q34 ClinVar:F10 Ensembl:ENSG00000126218 Genatlas:F10 HGNC:3528 IUPHAR:2359 OMIM:613872 Reactome:P00742 SwissProt:P00742 F10 coagulation factor X 4q35.2 FXI plasma thromboplastin antecedent ClinVar:F11 Ensembl:ENSG00000088926 Genatlas:F11 HGNC:3529 IUPHAR:2360 OMIM:264900 Reactome:P03951 SwissProt:P03951 F11 coagulation factor XI 5q35.3 Plasma coagulation Factor XIIa ClinVar:F12 Ensembl:ENSG00000131187 Genatlas:F12 HGNC:3530 IUPHAR:2361 OMIM:610619 Reactome:P00748 SwissProt:P00748 F12 coagulation factor XII 6p25.1 ClinVar:F13A1 Ensembl:ENSG00000124491 Genatlas:F13A1 HGNC:3531 OMIM:134570 Reactome:P00488 SwissProt:P00488 F13A1 coagulation factor XIII A chain 1q31.3 FXIIIB ClinVar:F13B Ensembl:ENSG00000143278 Genatlas:F13B HGNC:3534 OMIM:134580 Reactome:P05160 SwissProt:P05160 F13B coagulation factor XIII B chain 11p11.2 prepro-coagulation factor II ClinVar:F2 Ensembl:ENSG00000180210 Genatlas:F2 HGNC:3535 IUPHAR:2362 OMIM:176930 Reactome:P00734 SwissProt:P00734 F2 coagulation factor II, thrombin 1q24.2 ClinVar:F5 Ensembl:ENSG00000198734 Genatlas:F5 HGNC:3542 IUPHAR:2606 OMIM:612309 Reactome:P12259 SwissProt:P12259 F5 coagulation factor V 13q34 FVII coagulation protein eptacog alfa factor VII ClinVar:F7 Ensembl:ENSG00000057593 Genatlas:F7 HGNC:3544 IUPHAR:2363 OMIM:613878 Reactome:P08709 SwissProt:P08709 F7 coagulation factor VII Xq28 DXS1253E FVIII Factor VIIIF8B HEMA hemophilia A ClinVar:F8 Ensembl:ENSG00000185010 Genatlas:F8 HGNC:3546 IUPHAR:2607 OMIM:300841 Reactome:P00451 SwissProt:P00451 F8 coagulation factor VIII Xq27.1 Christmas disease FIX Factor IX hemophilia B plasma thromboplastic component ClinVar:F9 Ensembl:ENSG00000101981 Genatlas:F9 HGNC:3551 IUPHAR:2364 OMIM:300746 Reactome:P00740 SwissProt:P00740 F9 coagulation factor IX 15q25.1 fumarylacetoacetase ClinVar:FAH Ensembl:ENSG00000103876 Genatlas:FAH HGNC:3579 OMIM:613871 Reactome:P16930 SwissProt:P16930 FAH fumarylacetoacetate hydrolase 7p15.3 DRCTNNB1A HCC HYCC1 down regulated by Ctnnb1, a hyccin ClinVar:FAM126A Ensembl:ENSG00000122591 Genatlas:FAM126A HGNC:24587 OMIM:610531 SwissProt:Q9BYI3 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 16q24.3 FA-H FAA FAH ClinVar:FANCA Ensembl:ENSG00000187741 Genatlas:FANCA HGNC:3582 OMIM:607139 Reactome:O15360 SwissProt:O15360 FANCA FA complementation group A Hamano-Tsukamoto syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:G12.2 MeSH:C535625 UMLS:C2930956 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome ORPHA:1217 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535625 E (Exact mapping: the two concepts are equivalent) UMLS:C2930956 E (Exact mapping: the two concepts are equivalent) Xp22.2 FAAP95 FAB FLJ34064 ClinVar:FANCB Ensembl:ENSG00000181544 Genatlas:FANCB HGNC:3583 OMIM:300515 Reactome:Q8NB91 SwissProt:Q8NB91 FANCB FA complementation group B 9q22.32 FA3 FAC ClinVar:FANCC Ensembl:ENSG00000158169 Genatlas:FANCC HGNC:3584 OMIM:613899 Reactome:Q00597 SwissProt:Q00597 FANCC FA complementation group C 3p25.3 FA-D2 FAD ClinVar:FANCD2 Ensembl:ENSG00000144554 Genatlas:FANCD2 HGNC:3585 OMIM:613984 Reactome:Q9BXW9 SwissProt:Q9BXW9 FANCD2 FA complementation group D2 6p21.31 FAE ClinVar:FANCE Ensembl:ENSG00000112039 Genatlas:FANCE HGNC:3586 OMIM:613976 Reactome:Q9HB96 SwissProt:Q9HB96 FANCE FA complementation group E 11p14.3 FAF ClinVar:FANCF Ensembl:ENSG00000183161 Genatlas:FANCF HGNC:3587 OMIM:613897 Reactome:Q9NPI8 SwissProt:Q9NPI8 FANCF FA complementation group F 9p13.3 DNA repair protein XRCC9 FAG X-ray repair complementing defective repair in Chinese hamster cells 9 X-ray repair, complementing defective, in Chinese hamster, 9 ClinVar:FANCG Ensembl:ENSG00000221829 Genatlas:FANCG HGNC:3588 OMIM:602956 Reactome:O15287 SwissProt:O15287 FANCG FA complementation group G 2p16.1 FAAP43 FLJ10335 Pog ClinVar:FANCL Ensembl:ENSG00000115392 Genatlas:FANCL HGNC:20748 OMIM:608111 Reactome:Q9NW38 SwissProt:Q9NW38 FANCL FA complementation group L 14q21.2 FAAP250 ClinVar:FANCM Ensembl:ENSG00000187790 Genatlas:FANCM HGNC:23168 OMIM:609644 Reactome:Q8IYD8 SwissProt:Q8IYD8 FANCM FA complementation group M 10q23.31 APO-1 CD95 TNF receptor superfamily member 6 ClinVar:FAS Ensembl:ENSG00000026103 Genatlas:FAS HGNC:11920 IUPHAR:1875 OMIM:134637 Reactome:P25445 SwissProt:P25445 FAS Fas cell surface death receptor 1q24.3 CD178 FasL ClinVar:FASLG Ensembl:ENSG00000117560 Genatlas:FASLG HGNC:11936 OMIM:134638 Reactome:P48023 SwissProt:P48023 FASLG Fas ligand 14q32.12 ARMD3 DANCE EVEC UP50 developmental arteries and neural crest EGF-like embryonic vascular EGF-like repeat-containing protein ClinVar:FBLN5 Ensembl:ENSG00000140092 Genatlas:FBLN5 HGNC:3602 OMIM:604580 Reactome:Q9UBX5 SwissProt:Q9UBX5 FBLN5 fibulin 5 15q21.1 MASS Marfan syndrome OCTD SGS asprosin ClinVar:FBN1 Ensembl:ENSG00000166147 Genatlas:FBN1 HGNC:3603 OMIM:134797 Reactome:P35555 SwissProt:P35555 FBN1 fibrillin 1 5q23.3 DA9 fibrillin 5 ClinVar:FBN2 Ensembl:ENSG00000138829 Genatlas:FBN2 HGNC:3604 OMIM:612570 Reactome:P35556 SwissProt:P35556 FBN2 fibrillin 2 9q22.32 ClinVar:FBP1 Ensembl:ENSG00000165140 Genatlas:FBP1 HGNC:3606 OMIM:611570 Reactome:P09467 SwissProt:P09467 FBP1 fructose-bisphosphatase 1 9q31.2 LGMD2M Ribitol-5-phosphate transferase ClinVar:FKTN Ensembl:ENSG00000106692 Genatlas:FKTN HGNC:3622 OMIM:607440 SwissProt:O75072 FKTN fukutin 18q21.31 protoporphyria ClinVar:FECH Ensembl:ENSG00000066926 Genatlas:FECH HGNC:3647 OMIM:612386 Reactome:P22830 SwissProt:P22830 FECH ferrochelatase 4q31.3 ClinVar:FGA Ensembl:ENSG00000171560 Genatlas:FGA HGNC:3661 OMIM:134820 Reactome:P02671 SwissProt:P02671 FGA fibrinogen alpha chain 4q31.3 ClinVar:FGB Ensembl:ENSG00000171564 Genatlas:FGB HGNC:3662 OMIM:134830 Reactome:P02675 SwissProt:P02675 FGB fibrinogen beta chain Xp11.22 ZFYVE3 ClinVar:FGD1 Ensembl:ENSG00000102302 Genatlas:FGD1 HGNC:3663 OMIM:300546 Reactome:P98174 SwissProt:P98174 FGD1 FYVE, RhoGEF and PH domain containing 1 5p12 ClinVar:FGF10 Ensembl:ENSG00000070193 Genatlas:FGF10 HGNC:3666 OMIM:602115 Reactome:O15520 SwissProt:O15520 FGF10 fibroblast growth factor 10 13q33.1 FHF4 SCA27 ClinVar:FGF14 Ensembl:ENSG00000102466 Genatlas:FGF14 HGNC:3671 OMIM:601515 Reactome:Q92915 SwissProt:Q92915 FGF14 fibroblast growth factor 14 12p13.32 ClinVar:FGF23 Ensembl:ENSG00000118972 Genatlas:FGF23 HGNC:3680 OMIM:605380 Reactome:Q9GZV9 SwissProt:Q9GZV9 FGF23 fibroblast growth factor 23 8p11.23 BFGFR CD331 CEK FLG H2 H3 H4 H5 N-SAM Pfeiffer syndrome ClinVar:FGFR1 Ensembl:ENSG00000077782 Genatlas:FGFR1 HGNC:3688 IUPHAR:1808 OMIM:136350 Reactome:P11362 SwissProt:P11362 FGFR1 fibroblast growth factor receptor 1 4p16.3 CD333 CEK2 JTK4 ClinVar:FGFR3 Ensembl:ENSG00000068078 Genatlas:FGFR3 HGNC:3690 IUPHAR:1810 OMIM:134934 Reactome:P22607 SwissProt:P22607 FGFR3 fibroblast growth factor receptor 3 4q32.1 ClinVar:FGG Ensembl:ENSG00000171557 Genatlas:FGG HGNC:3694 OMIM:134850 Reactome:P02679 SwissProt:P02679 FGG fibrinogen gamma chain 1q43 fumarase ClinVar:FH Ensembl:ENSG00000091483 Genatlas:FH HGNC:3700 OMIM:136850 Reactome:P07954 SwissProt:P07954 FH fumarate hydratase 3p14.2 AP3Aase FRA3B bis(5'-adenosyl)-triphosphatase ClinVar:FHIT Ensembl:ENSG00000189283 Genatlas:FHIT HGNC:3701 OMIM:601153 Reactome:P49789 SwissProt:P49789 FHIT fragile histidine triad diadenosine triphosphatase 4q12 DKFZp586K0717 FIP1 hFip1 ClinVar:FIP1L1 Ensembl:ENSG00000145216 Genatlas:FIP1L1 HGNC:19124 OMIM:607686 Reactome:Q6UN15 SwissProt:Q6UN15 FIP1L1 factor interacting with PAPOLA and CPSF1 19q13.32 FKTR LGMD2I MDC1C Ribitol 5-phosphate transferase ClinVar:FKRP Ensembl:ENSG00000181027 Genatlas:FKRP HGNC:17997 OMIM:606596 SwissProt:Q9H9S5 FKRP fukutin related protein 17p11.2 BHD DENND8B MGC17998 MGC23445 ClinVar:FLCN Ensembl:ENSG00000154803 Genatlas:FLCN HGNC:27310 OMIM:607273 SwissProt:Q8NFG4 FLCN folliculin 1q21.3 FLG-1 FLG1 ClinVar:FLG Ensembl:ENSG00000143631 Genatlas:FLG HGNC:3748 OMIM:135940 Reactome:P20930 SwissProt:P20930 FLG filaggrin 11q24.3 EWSR2 FLI-1 SIC-1 ClinVar:FLI1 Ensembl:ENSG00000151702 Genatlas:FLI1 HGNC:3749 OMIM:193067 Reactome:Q01543 SwissProt:Q01543 FLI1 Fli-1 proto-oncogene, ETS transcription factor 17p11.2 FLI FLIL Fli1 MGC39265 ClinVar:FLII Ensembl:ENSG00000177731 Genatlas:FLII HGNC:3750 OMIM:600362 SwissProt:Q13045 FLII FLII actin remodeling protein Xq28 ABP-280 actin binding protein 280 alpha filamin ClinVar:FLNA Ensembl:ENSG00000196924 Genatlas:FLNA HGNC:3754 OMIM:300017 Reactome:P21333 SwissProt:P21333 FLNA filamin A 3p14.3 ABP-278 FH1 TABP TAP actin binding protein 278 beta filamin ClinVar:FLNB Ensembl:ENSG00000136068 Genatlas:FLNB HGNC:3755 OMIM:603381 Reactome:O75369 SwissProt:O75369 FLNB filamin B 7q32.1 ABP-280 ABPL actin binding protein 280 gamma filamin ClinVar:FLNC Ensembl:ENSG00000128591 Genatlas:FLNC HGNC:3756 OMIM:102565 Reactome:Q14315 SwissProt:Q14315 FLNC filamin C 5q35.3 Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4 PCL VEGF receptor-3 VEGFR-3 VEGFR3 primary congenital lymphedema vascular endothelial growth factor receptor 3 ClinVar:FLT4 Ensembl:ENSG00000037280 Genatlas:FLT4 HGNC:3767 IUPHAR:1814 OMIM:136352 Reactome:P35916 SwissProt:P35916 FLT4 fms related receptor tyrosine kinase 4 1q24.3 Dimethylaniline monooxygenase [N-oxide-forming] 3 FMOII ClinVar:FMO3 Ensembl:ENSG00000007933 Genatlas:FMO3 HGNC:3771 OMIM:136132 Reactome:P31513 SwissProt:P31513 FMO3 flavin containing dimethylaniline monoxygenase 3 Xq27.3 FMRP FRAXA MGC87458 ClinVar:FMR1 Ensembl:ENSG00000102081 Genatlas:FMR1 HGNC:3775 OMIM:309550 SwissProt:Q06787 FMR1 fragile X messenger ribonucleoprotein 1 6p25.3 ARA FREAC3 IGDA IHG1 ClinVar:FOXC1 Ensembl:ENSG00000054598 Genatlas:FOXC1 HGNC:3800 OMIM:601090 Reactome:Q12948 SwissProt:Q12948 FOXC1 forkhead box C1 16q24.1 MFH-1 mesenchyme forkhead 1 ClinVar:FOXC2 Ensembl:ENSG00000176692 Genatlas:FOXC2 HGNC:3801 OMIM:602402 Reactome:Q99958 SwissProt:Q99958 FOXC2 forkhead box C2 9q22.33 HFKH4 TTF-2 thyroid transcription factor 2 ClinVar:FOXE1 Ensembl:ENSG00000178919 Genatlas:FOXE1 HGNC:3806 OMIM:602617 SwissProt:O00358 FOXE1 forkhead box E1 Auralcephalosyndactyly Kurczynski-Casperson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Saethre-Chotzen syndrome MeSH:D000168 MedDRA:10000590 OMIM:109050 UMLS:C1862380 Aurocephalosyndactyly ORPHA:1219 MeSH:D000168 E (Exact mapping: the two concepts are equivalent) MedDRA:10000590 E (Exact mapping: the two concepts are equivalent) OMIM:109050 E (Exact mapping: the two concepts are equivalent) UMLS:C1862380 E (Exact mapping: the two concepts are equivalent) 1p33 FREAC8 ClinVar:FOXE3 Ensembl:ENSG00000186790 Genatlas:FOXE3 HGNC:3808 OMIM:601094 SwissProt:Q13461 FOXE3 forkhead box E3 3q22.3 BPES1 ClinVar:FOXL2 Ensembl:ENSG00000183770 Genatlas:FOXL2 HGNC:1092 OMIM:605597 Reactome:P58012 SwissProt:P58012 FOXL2 forkhead box L2 13q14.11 FKH1 ClinVar:FOXO1 Ensembl:ENSG00000150907 Genatlas:FOXO1 HGNC:3819 OMIM:136533 Reactome:Q12778 SwissProt:Q12778 FOXO1 forkhead box O1 Xp11.23 AIID DIETER JM2 PIDX SCURFIN XPID ClinVar:FOXP3 Ensembl:ENSG00000049768 Genatlas:FOXP3 HGNC:6106 OMIM:300292 Reactome:Q9BZS1 SwissProt:Q9BZS1 FOXP3 forkhead box P3 4q21.21 FLJ14927 FLJ22031 KIAA1500 ClinVar:FRAS1 Ensembl:ENSG00000138759 Genatlas:FRAS1 HGNC:19185 OMIM:607830 SwissProt:Q86XX4 FRAS1 Fraser extracellular matrix complex subunit 1 13q13.3 DKFZp686J0811 ClinVar:FREM2 Ensembl:ENSG00000150893 Genatlas:FREM2 HGNC:25396 OMIM:608945 SwissProt:Q5SZK8 FREM2 FRAS1 related extracellular matrix 2 4q35.2 FRG1A FSG1 ClinVar:FRG1 Ensembl:ENSG00000109536 Genatlas:FRG1 HGNC:3954 OMIM:601278 Reactome:Q14331 SwissProt:Q14331 FRG1 FSHD region gene 1 17q25.3 RFSN RP30 retinal fascin ClinVar:FSCN2 Ensembl:ENSG00000186765 Genatlas:FSCN2 HGNC:3960 OMIM:607643 SwissProt:O14926 FSCN2 fascin actin-bundling protein 2, retinal 11p14.1 follitropin, beta chain ClinVar:FSHB Ensembl:ENSG00000131808 Genatlas:FSHB HGNC:3964 OMIM:136530 Reactome:P01225 SwissProt:P01225 FSHB follicle stimulating hormone subunit beta 2p16.3 FSHRO LGR1 ClinVar:FSHR Ensembl:ENSG00000170820 Genatlas:FSHR HGNC:3969 IUPHAR:253 OMIM:136435 Reactome:P23945 SwissProt:P23945 FSHR follicle stimulating hormone receptor 21q22.3 ClinVar:FTCD Ensembl:ENSG00000160282 Genatlas:FTCD HGNC:3974 OMIM:606806 Reactome:O95954 SwissProt:O95954 FTCD formimidoyltransferase cyclodeaminase 19q13.33 FTL1 L apoferritin MGC71996 NBIA3 ferritin L subunit ferritin L-chain ferritin light polypeptide-like 3 neurodegeneration with brain iron accumulation 3 ClinVar:FTL Ensembl:ENSG00000087086 Genatlas:FTL HGNC:3999 OMIM:134790 Reactome:P02792 SwissProt:P02792 FTL ferritin light chain Xp11.23 CDLIV JM23 SPB1 TRM7 TRMT7 tRNA methyltransferase 7 homolog (S. cerevisiae) ClinVar:FTSJ1 Ensembl:ENSG00000068438 Genatlas:FTSJ1 HGNC:13254 OMIM:300499 Reactome:Q9UET6 SwissProt:Q9UET6 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 1p36.11 a-L-fucosidase 1 tissue fucosidase ClinVar:FUCA1 Ensembl:ENSG00000179163 Genatlas:FUCA1 HGNC:4006 OMIM:612280 Reactome:P04066 SwissProt:P04066 FUCA1 alpha-L-fucosidase 1 9q21.11 CyaY FA FARR X25 ClinVar:FXN Ensembl:ENSG00000165060 Genatlas:FXN HGNC:3951 OMIM:606829 Reactome:Q16595 SwissProt:Q16595 FXN frataxin 11q23.3 MGC12372 ClinVar:FXYD2 Ensembl:ENSG00000137731 Genatlas:FXYD2 HGNC:4026 IUPHAR:2610 OMIM:601814 Reactome:P54710 SwissProt:P54710 FXYD2 FXYD domain containing ion transport regulator 2 11q14.2 CD344 ClinVar:FZD4 Ensembl:ENSG00000174804 Genatlas:FZD4 HGNC:4042 IUPHAR:232 OMIM:604579 Reactome:Q9ULV1 SwissProt:Q9ULV1 FZD4 frizzled class receptor 4 17q21.31 G6PC1 GSD1a glycogen storage disease type I, von Gierke disease ClinVar:G6PC Ensembl:ENSG00000131482 Genatlas:G6PC HGNC:4056 OMIM:613742 Reactome:P35575 SwissProt:P35575 G6PC1 glucose-6-phosphatase catalytic subunit 1 Xq28 G6PD1 ClinVar:G6PD Ensembl:ENSG00000160211 Genatlas:G6PD HGNC:4057 OMIM:305900 Reactome:P11413 SwissProt:P11413 G6PD glucose-6-phosphate dehydrogenase 17q25.3 Pompe disease glycogen storage disease type II ClinVar:GAA Ensembl:ENSG00000171298 Genatlas:GAA HGNC:4065 IUPHAR:2611 OMIM:606800 Reactome:P10253 SwissProt:P10253 GAA alpha glucosidase 5q34 EJM5 GABA(A) receptor, alpha 1 ClinVar:GABRA1 Ensembl:ENSG00000022355 Genatlas:GABRA1 HGNC:4075 IUPHAR:404 OMIM:137160 Reactome:P14867 SwissProt:P14867 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 1p36.33 GABA(A) receptor, delta GABAARdelta ClinVar:GABRD Ensembl:ENSG00000187730 Genatlas:GABRD HGNC:4084 IUPHAR:416 OMIM:137163 SwissProt:O14764 GABRD gamma-aminobutyric acid type A receptor subunit delta 5q34 GABA(A) receptor, gamma 2 ClinVar:GABRG2 Ensembl:ENSG00000113327 Genatlas:GABRG2 HGNC:4087 IUPHAR:414 OMIM:137164 Reactome:P18507 SwissProt:P18507 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 14q31.3 Krabbe disease ClinVar:GALC Ensembl:ENSG00000054983 Genatlas:GALC HGNC:4115 OMIM:606890 Reactome:P54803 SwissProt:P54803 GALC galactosylceramidase 1p36.11 SDR1E1 UDP-glucose 4-epimerase short chain dehydrogenase/reductase family 1E, member 1 ClinVar:GALE Ensembl:ENSG00000117308 Genatlas:GALE HGNC:4116 OMIM:606953 Reactome:Q14376 SwissProt:Q14376 GALE UDP-galactose-4-epimerase 17q25.1 ClinVar:GALK1 Ensembl:ENSG00000108479 Genatlas:GALK1 HGNC:4118 OMIM:604313 Reactome:P51570 SwissProt:P51570 GALK1 galactokinase 1 Hornstein-Knickenberg syndrome A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax. Orphanet ICD-10:C44.9 ICD-11:LD27.5 MeSH:D058249 MedDRA:10067736 OMIM:135150 UMLS:C0346010 Autosomal dominant Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=122 Birt-Hogg-Dubé syndrome ORPHA:122 ICD-10:C44.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058249 E (Exact mapping: the two concepts are equivalent) MedDRA:10067736 E (Exact mapping: the two concepts are equivalent) OMIM:135150 E (Exact mapping: the two concepts are equivalent) UMLS:C0346010 E (Exact mapping: the two concepts are equivalent) 16q24.3 GALNAC6S GAS GalN6S Morquio syndrome N-acetylgalactosamine-6-sulfatase chondroitinase chondroitinsulfatase galactose-6-sulfate sulfatase mucopolysaccharidosis type IVA ClinVar:GALNS Ensembl:ENSG00000141012 Genatlas:GALNS HGNC:4122 IUPHAR:2765 OMIM:612222 Reactome:P34059 SwissProt:P34059 GALNS galactosamine (N-acetyl)-6-sulfatase 2q24.3 GalNAc-T3 HFTC HHS polypeptide GalNAc transferase 3 ClinVar:GALNT3 Ensembl:ENSG00000115339 Genatlas:GALNT3 HGNC:4125 OMIM:601756 Reactome:Q14435 SwissProt:Q14435 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 9p13.3 ClinVar:GALT Ensembl:ENSG00000213930 Genatlas:GALT HGNC:4135 OMIM:606999 Reactome:P07902 SwissProt:P07902 GALT galactose-1-phosphate uridylyltransferase 19p13.3 PIG2 TP53I2 ClinVar:GAMT Ensembl:ENSG00000130005 Genatlas:GAMT HGNC:4136 OMIM:601240 Reactome:Q14353 SwissProt:Q14353 GAMT guanidinoacetate N-methyltransferase 16q23.2 GAN1 GIG KLHL16 kelch-like family member 16 ClinVar:GAN Ensembl:ENSG00000261609 Genatlas:GAN HGNC:4137 OMIM:605379 Reactome:Q9H2C0 SwissProt:Q9H2C0 GAN gigaxonin 7p14.3 DSMAV GlyRS SMAD1 glycine tRNA ligase ClinVar:GARS Ensembl:ENSG00000106105 Genatlas:GARS HGNC:4162 OMIM:600287 Reactome:P41250 SwissProt:P41250 GARS1 glycyl-tRNA synthetase 1 Xp11.23 ERYF1 GATA-1 NF-E1 NFE1 nuclear factor, erythroid 1 ClinVar:GATA1 Ensembl:ENSG00000102145 Genatlas:GATA1 HGNC:4170 OMIM:305371 Reactome:P15976 SwissProt:P15976 GATA1 GATA binding protein 1 10p14 HDR ClinVar:GATA3 Ensembl:ENSG00000107485 Genatlas:GATA3 HGNC:4172 OMIM:131320 Reactome:P23771 SwissProt:P23771 GATA3 GATA binding protein 3 8p23.1 ClinVar:GATA4 Ensembl:ENSG00000136574 Genatlas:GATA4 HGNC:4173 OMIM:600576 Reactome:P43694 SwissProt:P43694 GATA4 GATA binding protein 4 15q21.1 AGAT L-arginine:glycine amidinotransferase ClinVar:GATM Ensembl:ENSG00000171766 Genatlas:GATM HGNC:4175 IUPHAR:1246 OMIM:602360 Reactome:P50440 SwissProt:P50440 GATM glycine amidinotransferase 1q22 GBA1 glucocerebrosidase ClinVar:GBA Ensembl:ENSG00000177628 Genatlas:GBA HGNC:4177 IUPHAR:2978 OMIM:606463 Reactome:P04062 SwissProt:P04062 GBA1 glucosylceramidase beta 1 3p12.2 Andersen disease glycogen branching enzyme glycogen storage disease type IV ClinVar:GBE1 Ensembl:ENSG00000114480 Genatlas:GBE1 HGNC:4180 OMIM:607839 Reactome:Q04446 SwissProt:Q04446 GBE1 1,4-alpha-glucan branching enzyme 1 19p13.13 ACAD5 GCD ClinVar:GCDH Ensembl:ENSG00000105607 Genatlas:GCDH HGNC:4189 OMIM:608801 Reactome:Q92947 SwissProt:Q92947 GCDH glutaryl-CoA dehydrogenase 14q22.2 DYT5a GTP cyclohydrolase I GTPCH1 dopa-responsive dystonia ClinVar:GCH1 Ensembl:ENSG00000131979 Genatlas:GCH1 HGNC:4193 OMIM:600225 Reactome:P30793 SwissProt:P30793 GCH1 GTP cyclohydrolase 1 7p13 HK4 hexokinase 4 ClinVar:GCK Ensembl:ENSG00000106633 Genatlas:GCK HGNC:4195 IUPHAR:2798 OMIM:138079 Reactome:P35557 SwissProt:P35557 GCK glucokinase 6p12.1 GCS ClinVar:GCLC Ensembl:ENSG00000001084 Genatlas:GCLC HGNC:4311 OMIM:606857 Reactome:P48506 SwissProt:P48506 GCLC glutamate-cysteine ligase catalytic subunit 16q23.2 lipoic acid-containing protein ClinVar:GCSH Ensembl:ENSG00000140905 Genatlas:GCSH HGNC:4208 IUPHAR:3098 OMIM:238330 Reactome:P23434 SwissProt:P23434 GCSH glycine cleavage system protein H 8q21.11 CMT2K CMT4 ClinVar:GDAP1 Ensembl:ENSG00000104381 Genatlas:GDAP1 HGNC:15968 OMIM:606598 SwissProt:Q8TB36 GDAP1 ganglioside induced differentiation associated protein 1 20q11.22 BMP14 CDMP1 cartilage-derived morphogenetic protein-1 ClinVar:GDF5 Ensembl:ENSG00000125965 Genatlas:GDF5 HGNC:4220 OMIM:601146 Reactome:P43026 SwissProt:P43026 GDF5 growth differentiation factor 5 Xq28 FLJ41411 OPHN2 RABGDIA XAP-4 mental retardation, X-linked 41 mental retardation, X-linked 48 oligophrenin-2 rab GDP-dissociation inhibitor, alpha ClinVar:GDI1 Ensembl:ENSG00000203879 Genatlas:GDI1 HGNC:4226 OMIM:300104 Reactome:P31150 SwissProt:P31150 GDI1 GDP dissociation inhibitor 1 5p13.2 ATF1 ATF2 HFB1-GDNF astrocyte-derived trophic factor glial cell line derived neurotrophic factor glial derived neurotrophic factor ClinVar:GDNF Ensembl:ENSG00000168621 Genatlas:GDNF HGNC:4232 OMIM:600837 Reactome:P39905 SwissProt:P39905 GDNF glial cell derived neurotrophic factor 17q21.31 FLJ45472 intermediate filament protein ClinVar:GFAP Ensembl:ENSG00000131095 Genatlas:GFAP HGNC:4235 OMIM:137780 Reactome:P14136 SwissProt:P14136 GFAP glial fibrillary acidic protein 1p22.1 GFI-1 GFI1A ClinVar:GFI1 Ensembl:ENSG00000162676 Genatlas:GFI1 HGNC:4237 OMIM:600871 Reactome:Q99684 SwissProt:Q99684 GFI1 growth factor independent 1 transcriptional repressor 2p11.2 VKCFD1 peptidyl-glutamate 4-carboxylase vitamin K-dependent gamma-carboxylase ClinVar:GGCX Ensembl:ENSG00000115486 Genatlas:GGCX HGNC:4247 IUPHAR:1268 OMIM:137167 Reactome:P38435 SwissProt:P38435 GGCX gamma-glutamyl carboxylase 17q23.3 GH GH-N GHN hGH-N pituitary growth hormone somatotropin ClinVar:GH1 Ensembl:ENSG00000259384 Genatlas:GH1 HGNC:4261 OMIM:139250 Reactome:P01241 SwissProt:P01241 GH1 growth hormone 1 5p13.1-p12 GHBP growth hormone binding protein ClinVar:GHR Ensembl:ENSG00000112964 Genatlas:GHR HGNC:4263 IUPHAR:1720 OMIM:600946 Reactome:P10912 SwissProt:P10912 GHR growth hormone receptor 7p14.3 ClinVar:GHRHR Ensembl:ENSG00000106128 Genatlas:GHRHR HGNC:4266 IUPHAR:247 OMIM:139191 Reactome:Q02643 SwissProt:Q02643 GHRHR growth hormone releasing hormone receptor 11q12.1 IF IFMH INF TCN3 ClinVar:GIF Ensembl:ENSG00000134812 Genatlas:GIF HGNC:4268 OMIM:609342 Reactome:P27352 SwissProt:P27352 CBLIF cobalamin binding intrinsic factor A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands. Orphanet ICD-10:K13.0 ICD-11:DA00.0 MeSH:C535921 OMIM:118330 UMLS:C0267034 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1221 Cheilitis glandularis ORPHA:1221 ICD-10:K13.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DA00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535921 E (Exact mapping: the two concepts are equivalent) OMIM:118330 E (Exact mapping: the two concepts are equivalent) UMLS:C0267034 E (Exact mapping: the two concepts are equivalent) 6q22.31 CX43 ODD ODOD SDTY3 connexin 43 oculodentodigital dysplasia (syndactyly type III) ClinVar:GJA1 Ensembl:ENSG00000152661 Genatlas:GJA1 HGNC:4274 IUPHAR:728 OMIM:121014 Reactome:P17302 SwissProt:P17302 GJA1 gap junction protein alpha 1 1q42.13 CX46.6 CX47 SPG44 connexin 47 ClinVar:GJC2 Ensembl:ENSG00000198835 Genatlas:GJC2 HGNC:17494 IUPHAR:731 OMIM:608803 Reactome:Q5T442 SwissProt:Q5T442 GJC2 gap junction protein gamma 2 13q12.11 CX46 connexin 46 ClinVar:GJA3 Ensembl:ENSG00000121743 Genatlas:GJA3 HGNC:4277 IUPHAR:730 OMIM:121015 Reactome:Q9Y6H8 SwissProt:Q9Y6H8 GJA3 gap junction protein alpha 3 1q21.2 CX50 connexin 50 ClinVar:GJA8 Ensembl:ENSG00000121634 Genatlas:GJA8 HGNC:4281 IUPHAR:732 OMIM:600897 Reactome:P48165 SwissProt:P48165 GJA8 gap junction protein alpha 8 Xq13.1 CX32 Charcot-Marie-Tooth neuropathy, X-linked connexin 32 ClinVar:GJB1 Ensembl:ENSG00000169562 Genatlas:GJB1 HGNC:4283 IUPHAR:723 OMIM:304040 Reactome:P08034 SwissProt:P08034 GJB1 gap junction protein beta 1 13q12.11 CX26 NSRD1 connexin 26 ClinVar:GJB2 Ensembl:ENSG00000165474 Genatlas:GJB2 HGNC:4284 IUPHAR:716 OMIM:121011 Reactome:P29033 SwissProt:P29033 GJB2 gap junction protein beta 2 1p34.3 CX31 connexin 31 ClinVar:GJB3 Ensembl:ENSG00000188910 Genatlas:GJB3 HGNC:4285 IUPHAR:720 OMIM:603324 Reactome:O75712 SwissProt:O75712 GJB3 gap junction protein beta 3 1p34.3 CX30.3 connexin 30.3 ClinVar:GJB4 Ensembl:ENSG00000189433 Genatlas:GJB4 HGNC:4286 IUPHAR:719 OMIM:605425 Reactome:Q9NTQ9 SwissProt:Q9NTQ9 GJB4 gap junction protein beta 4 13q12.11 CX30 EDH HED connexin 30 ClinVar:GJB6 Ensembl:ENSG00000121742 Genatlas:GJB6 HGNC:4288 IUPHAR:717 OMIM:604418 Reactome:O95452 SwissProt:O95452 GJB6 gap junction protein beta 6 Xp21.2 GK1 GKD ClinVar:GK Ensembl:ENSG00000198814 Genatlas:GK HGNC:4289 OMIM:300474 Reactome:P32189 SwissProt:P32189 GK glycerol kinase Xq22.1 GALA ClinVar:GLA Ensembl:ENSG00000102393 Genatlas:GLA HGNC:4296 OMIM:300644 Reactome:P06280 SwissProt:P06280 GLA galactosidase alpha 3p22.3 EBP elastin binding protein ClinVar:GLB1 Ensembl:ENSG00000170266 Genatlas:GLB1 HGNC:4298 OMIM:611458 Reactome:P16278 SwissProt:P16278 GLB1 galactosidase beta 1 9p24.1 GCSP NKH glycine cleavage system protein P glycine dehydrogenase nonketotic hyperglycinemia ClinVar:GLDC Ensembl:ENSG00000178445 Genatlas:GLDC HGNC:4313 OMIM:238300 Reactome:P23378 SwissProt:P23378 GLDC glycine decarboxylase 7p14.1 ACLS DNA-binding protein PAP-A PAPA PAPA1 PAPB PPDIV oncogene GLI3 zinc finger protein GLI3 ClinVar:GLI3 Ensembl:ENSG00000106571 Genatlas:GLI3 HGNC:4319 OMIM:165240 Reactome:P10071 SwissProt:P10071 GLI3 GLI family zinc finger 3 1p22.1 FAP48 FAP68 FKBPAP GLML GVM ClinVar:GLMN Ensembl:ENSG00000174842 Genatlas:GLMN HGNC:14373 OMIM:601749 Reactome:Q92990 SwissProt:Q92990 GLMN glomulin, FKBP associated protein 5q33.1 stiff person syndrome ClinVar:GLRA1 Ensembl:ENSG00000145888 Genatlas:GLRA1 HGNC:4326 IUPHAR:423 OMIM:138491 Reactome:P23415 SwissProt:P23415 GLRA1 glycine receptor alpha 1 4q32.1 ClinVar:GLRB Ensembl:ENSG00000109738 Genatlas:GLRB HGNC:4329 IUPHAR:427 OMIM:138492 Reactome:P48167 SwissProt:P48167 GLRB glycine receptor beta 10q23.2 GDH GDH1 hGDH1 ClinVar:GLUD1 Ensembl:ENSG00000148672 Genatlas:GLUD1 HGNC:4335 OMIM:138130 Reactome:P00367 SwissProt:P00367 GLUD1 glutamate dehydrogenase 1 5q33.1 GM2-AP GM2-activator protein GM2AP SAP-3 cerebroside sulfate activator protein sphingolipid activator protein 3 ClinVar:GM2A Ensembl:ENSG00000196743 Genatlas:GM2A HGNC:4367 OMIM:613109 Reactome:P17900 SwissProt:P17900 GM2A ganglioside GM2 activator 20q13.32 G protein subunit alpha S GNASXL GPSA NESP NESP55 SCG6 SgVI secretogranin VI ClinVar:GNAS Ensembl:ENSG00000087460 Genatlas:GNAS HGNC:4392 OMIM:139320 Reactome:P63092 SwissProt:O95467 SwissProt:P63092 SwissProt:P84996 SwissProt:Q5JWF2 GNAS GNAS complex locus 3p21.31 CSNBAD3 ClinVar:GNAT1 Ensembl:ENSG00000114349 Genatlas:GNAT1 HGNC:4393 OMIM:139330 Reactome:P11488 SwissProt:P11488 GNAT1 G protein subunit alpha transducin 1 1p13.3 ACHM4 ClinVar:GNAT2 Ensembl:ENSG00000134183 Genatlas:GNAT2 HGNC:4394 OMIM:139340 Reactome:P19087 SwissProt:P19087 GNAT2 G protein subunit alpha transducin 2 9p13.3 Uae1 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase ClinVar:GNE Ensembl:ENSG00000159921 Genatlas:GNE HGNC:23657 OMIM:603824 Reactome:Q9Y223 SwissProt:Q9Y223 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 1q42.2 DAP-AT DAPAT DHAPAT dihydroxyacetone phosphate acyltransferase glycerone-phosphate O-acyltransferase ClinVar:GNPAT Ensembl:ENSG00000116906 Genatlas:GNPAT HGNC:4416 OMIM:602744 Reactome:O15228 SwissProt:O15228 GNPAT glyceronephosphate O-acyltransferase 12q23.2 KIAA1208 MGC4170 ClinVar:GNPTAB Ensembl:ENSG00000111670 Genatlas:GNPTAB HGNC:29670 OMIM:607840 Reactome:Q3T906 SwissProt:Q3T906 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 16p13.3 CAB56184 GlcNAc-phosphotransferase gamma-subunit c316G12.3 ClinVar:GNPTG Ensembl:ENSG00000090581 Genatlas:GNPTG HGNC:23026 OMIM:607838 SwissProt:Q9UJJ9 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma 4q13.2 LHRHR ClinVar:GNRHR Ensembl:ENSG00000109163 Genatlas:GNRHR HGNC:4421 IUPHAR:256 OMIM:138850 Reactome:P30968 SwissProt:P30968 GNRHR gonadotropin releasing hormone receptor 12q14.3 N-acetylglucosamine-6-sulfatase Sanfilippo disease IIID ClinVar:GNS Ensembl:ENSG00000135677 Genatlas:GNS HGNC:4422 OMIM:607664 Reactome:P15586 SwissProt:P15586 GNS glucosamine (N-acetyl)-6-sulfatase 14q32.12 GOLIM5 golgi integral membrane protein 5 golgin-84 ret-II rfg5 ClinVar:GOLGA5 Ensembl:ENSG00000066455 Genatlas:GOLGA5 HGNC:4428 OMIM:606918 Reactome:Q8TBA6 SwissProt:Q8TBA6 GOLGA5 golgin A5 17p13.2 CD42b GPIbalpha platelet glycoprotein Ib alpha chain ClinVar:GP1BA Ensembl:ENSG00000185245 Genatlas:GP1BA HGNC:4439 OMIM:606672 Reactome:P07359 SwissProt:P07359 GP1BA glycoprotein Ib platelet subunit alpha 22q11.21 CD42c GPIbbeta platelet glycoprotein Ib beta chain ClinVar:GP1BB Ensembl:ENSG00000203618 Genatlas:GP1BB HGNC:4440 OMIM:138720 Reactome:P13224 SwissProt:P13224 GP1BB glycoprotein Ib platelet subunit beta 3q21.3 CD42a GPIX platelet glycoprotein IX ClinVar:GP9 Ensembl:ENSG00000169704 Genatlas:GP9 HGNC:4444 OMIM:173515 Reactome:P14770 SwissProt:P14770 GP9 glycoprotein IX platelet Xq26.2 DGSX OCI-5 SGB SGBS SGBS1 glypican proteoglycan 3 ClinVar:GPC3 Ensembl:ENSG00000147257 Genatlas:GPC3 HGNC:4451 IUPHAR:2959 OMIM:300037 Reactome:P51654 SwissProt:P51654 GPC3 glypican 3 14q23.3 GEPH GPH KIAA1385 ClinVar:GPHN Ensembl:ENSG00000171723 Genatlas:GPHN HGNC:15465 OMIM:603930 Reactome:Q9NQX3 SwissProt:Q9NQX3 GPHN gephyrin 19q13.11 AMF NLK ClinVar:GPI Ensembl:ENSG00000105220 Genatlas:GPI HGNC:4458 OMIM:172400 Reactome:P06744 SwissProt:P06744 GPI glucose-6-phosphate isomerase Xp22.2 ocular albinism 1 ClinVar:GPR143 Ensembl:ENSG00000101850 Genatlas:GPR143 HGNC:20145 IUPHAR:203 OMIM:300808 Reactome:P51810 SwissProt:P51810 GPR143 G protein-coupled receptor 143 16q21 TM7LN4 TM7XN1 ClinVar:GPR56 Ensembl:ENSG00000205336 Genatlas:GPR56 HGNC:4512 IUPHAR:186 OMIM:604110 SwissProt:Q9Y653 ADGRG1 adhesion G protein-coupled receptor G1 5q14.3 DKFZp761P0710 FEB4 KIAA0686 VLGR1 ClinVar:ADGRV1 Ensembl:ENSG00000164199 Genatlas:ADGRV1 HGNC:17416 IUPHAR:189 OMIM:602851 SwissProt:Q8WXG9 ADGRV1 adhesion G protein-coupled receptor V1 9p13.2 PH2 primary hyperoxaluria type 2 ClinVar:GRHPR Ensembl:ENSG00000137106 Genatlas:GRHPR HGNC:4570 OMIM:604296 Reactome:Q9UBQ7 SwissProt:Q9UBQ7 GRHPR glyoxylate and hydroxypyruvate reductase Xq25 AMPA receptor subunit GluA3 GLURC GluA3 GluR-3 GluR-C GluR-K3 Glutamate receptor 3 MRX94 iGluR3 ClinVar:GRIA3 Ensembl:ENSG00000125675 Genatlas:GRIA3 HGNC:4573 IUPHAR:446 OMIM:305915 Reactome:P42263 SwissProt:P42263 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 13q34 GPRK1 RK ClinVar:GRK1 Ensembl:ENSG00000185974 Genatlas:GRK1 HGNC:10013 IUPHAR:1465 OMIM:180381 Reactome:Q15835 SwissProt:Q15835 GRK1 G protein-coupled receptor kinase 1 5q35.3 CSNB1B GPRC1F MGLUR6 mGlu6 ClinVar:GRM6 Ensembl:ENSG00000113262 Genatlas:GRM6 HGNC:4598 IUPHAR:294 OMIM:604096 Reactome:O15303 SwissProt:O15303 GRM6 glutamate metabotropic receptor 6 9q33.2 DKFZp313L0718 amyloidosis, Finnish type ClinVar:GSN Ensembl:ENSG00000148180 Genatlas:GSN HGNC:4620 OMIM:137350 Reactome:P06396 SwissProt:P06396 GSN gelsolin 8p12 glutathione S-reductase ClinVar:GSR Ensembl:ENSG00000104687 Genatlas:GSR HGNC:4623 IUPHAR:2613 OMIM:138300 Reactome:P00390 SwissProt:P00390 GSR glutathione-disulfide reductase Balantidiosis Ciliary dysentery Balantidiasis is an infectious disease, rare in western countries. It is caused by <I>Balantidium coli</I>, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice. Orphanet ICD-10:A07.0 ICD-11:1A30 MeSH:D001447 MedDRA:10004080 UMLS:C0004692 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1223 Balantidiasis ORPHA:1223 ICD-10:A07.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001447 E (Exact mapping: the two concepts are equivalent) MedDRA:10004080 E (Exact mapping: the two concepts are equivalent) UMLS:C0004692 E (Exact mapping: the two concepts are equivalent) 20q11.22 ClinVar:GSS Ensembl:ENSG00000100983 Genatlas:GSS HGNC:4624 OMIM:601002 Reactome:P48637 SwissProt:P48637 GSS glutathione synthetase 6q25.3 DNA repair syndrome trichothiodystrophy group A FLJ30544 TFB5 TFIIH TTD-A TTDA bA120J8.2 ClinVar:GTF2H5 Ensembl:ENSG00000272047 Genatlas:GTF2H5 HGNC:21157 OMIM:608780 Reactome:Q6ZYL4 SwissProt:Q6ZYL4 GTF2H5 general transcription factor IIH subunit 5 7q11.23 BAP-135 BTKAP1 DIWS IB291 SPIN TFII-I ClinVar:GTF2I Ensembl:ENSG00000263001 Genatlas:GTF2I HGNC:4659 OMIM:601679 Reactome:P78347 SwissProt:P78347 GTF2I general transcription factor IIi 7q11.23 BEN Cream1 GTF3 MusTRD1 RBAP2 WBSCR12 binding factor for early enhancer ClinVar:GTF2IRD1 Ensembl:ENSG00000006704 Genatlas:GTF2IRD1 HGNC:4661 OMIM:604318 Reactome:Q9UHL9 SwissProt:Q9UHL9 GTF2IRD1 GTF2I repeat domain containing 1 6p21.1 COD3 CORD14 GCAP GCAP-1 GCAP-I GCAP1 cone dystrophy 3 dJ139D8.6 ClinVar:GUCA1A Ensembl:ENSG00000048545 Genatlas:GUCA1A HGNC:4678 OMIM:600364 Reactome:P43080 SwissProt:P43080 GUCA1A guanylate cyclase activator 1A 17p13.1 CYGD LCA1 Leber congenital amaurosis 1 RETGC-1 ROS-GC ROS-GC1 retGC retinal guanylate cyclase 1 rod outer segment membrane guanylate cyclase ClinVar:GUCY2D Ensembl:ENSG00000132518 Genatlas:GUCY2D HGNC:4689 IUPHAR:2031 OMIM:600179 Reactome:Q02846 SwissProt:Q02846 GUCY2D guanylate cyclase 2D, retinal 7q11.21 ClinVar:GUSB Ensembl:ENSG00000169919 Genatlas:GUSB HGNC:4696 OMIM:611499 Reactome:P08236 SwissProt:P08236 GUSB glucuronidase beta 12p12.1 ClinVar:GYS2 Ensembl:ENSG00000111713 Genatlas:GYS2 HGNC:4707 OMIM:138571 Reactome:P54840 SwissProt:P54840 GYS2 glycogen synthase 2 4q25 HADH1 SCHAD ClinVar:HADH Ensembl:ENSG00000138796 Genatlas:HADH HGNC:4799 OMIM:601609 Reactome:Q16836 SwissProt:Q16836 HADH hydroxyacyl-CoA dehydrogenase 12q23.1 ClinVar:HAL Ensembl:ENSG00000084110 Genatlas:HAL HGNC:4806 OMIM:609457 Reactome:P42357 SwissProt:P42357 HAL histidine ammonia-lyase 19q13.12 HEPC HFE2B LEAP-1 LEAP1 ClinVar:HAMP Ensembl:ENSG00000105697 Genatlas:HAMP HGNC:15598 OMIM:606464 SwissProt:P81172 HAMP hepcidin antimicrobial peptide 1q21.3 HAX-1 HCLS1 (and PKD2) associated protein HCLSBP1 HS1BP1 ClinVar:HAX1 Ensembl:ENSG00000143575 Genatlas:HAX1 HGNC:16915 OMIM:605998 Reactome:O00165 SwissProt:O00165 HAX1 HCLS1 associated protein X-1 16p13.3 HBA-T2 ClinVar:HBA2 Ensembl:ENSG00000188536 Genatlas:HBA2 HGNC:4824 OMIM:141850 Reactome:P69905 SwissProt:P69905 HBA2 hemoglobin subunit alpha 2 11p15.4 CD113t-C beta-globin ClinVar:HBB Ensembl:ENSG00000244734 Genatlas:HBB HGNC:4827 OMIM:141900 Reactome:P68871 SwissProt:P68871 HBB hemoglobin subunit beta Xp22.2 CCHL cytochrome c heme-lyase holocytochrome-c synthetase ClinVar:HCCS Ensembl:ENSG00000004961 Genatlas:HCCS HGNC:4837 OMIM:300056 SwissProt:P53701 HCCS holocytochrome c synthase 15q24.1 ClinVar:HCN4 Ensembl:ENSG00000138622 Genatlas:HCN4 HGNC:16882 IUPHAR:403 OMIM:605206 Reactome:Q9Y3Q4 SwissProt:Q9Y3Q4 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 17q21.2 OX PPOX orexin prepro-orexin ClinVar:HCRT Ensembl:ENSG00000161610 Genatlas:HCRT HGNC:4847 OMIM:602358 Reactome:O43612 SwissProt:O43612 HCRT hypocretin neuropeptide precursor 4p16.3 IT15 ClinVar:HTT Ensembl:ENSG00000197386 Genatlas:HTT HGNC:4851 OMIM:613004 Reactome:P42858 SwissProt:P42858 HTT huntingtin 3p14.3 ANF RPX Rathke's pouch homeobox ClinVar:HESX1 Ensembl:ENSG00000163666 Genatlas:HESX1 HGNC:4877 OMIM:601802 Reactome:Q9UBX0 SwissProt:Q9UBX0 HESX1 HESX homeobox 1 15q23 GM2 gangliosidosis Tay Sachs disease beta-hexosaminidase subunit alpha ClinVar:HEXA Ensembl:ENSG00000213614 Genatlas:HEXA HGNC:4878 OMIM:606869 Reactome:P06865 SwissProt:P06865 HEXA hexosaminidase subunit alpha 5q13.3 beta-hexosaminidase subunit beta ClinVar:HEXB Ensembl:ENSG00000049860 Genatlas:HEXB HGNC:4879 OMIM:606873 Reactome:P07686 SwissProt:P07686 HEXB hexosaminidase subunit beta 3q13.33 HGO homogentisate oxidase ClinVar:HGD Ensembl:ENSG00000113924 Genatlas:HGD HGNC:4892 OMIM:607474 Reactome:Q93099 SwissProt:Q93099 HGD homogentisate 1,2-dioxygenase 8p11.21-p11.1 FLJ32731 HGNAT ClinVar:HGSNAT Ensembl:ENSG00000165102 Genatlas:HGSNAT HGNC:26527 OMIM:610453 Reactome:Q68CP4 SwissProt:Q68CP4 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 17p13.3 ZBTB29 ZNF901 ClinVar:HIC1 Ensembl:ENSG00000177374 Genatlas:HIC1 HGNC:4909 OMIM:603825 Reactome:Q14526 SwissProt:Q14526 HIC1 HIC ZBTB transcriptional repressor 1 10q22.1 ClinVar:HK1 Ensembl:ENSG00000156515 Genatlas:HK1 HGNC:4922 OMIM:142600 Reactome:P19367 SwissProt:P19367 HK1 hexokinase 1 6p21.33 ClinVar:HLA-B Ensembl:ENSG00000234745 Genatlas:HLA-B HGNC:4932 OMIM:142830 Reactome:P30486 SwissProt:P01889 HLA-B major histocompatibility complex, class I, B 6p21.32 ClinVar:HLA-DRA Ensembl:ENSG00000204287 Genatlas:HLA-DRA HGNC:4947 OMIM:142860 Reactome:P01903 SwissProt:P01903 HLA-DRA major histocompatibility complex, class II, DR alpha 6p21.32 ClinVar:HLA-DRB1 Ensembl:ENSG00000196126 Genatlas:HLA-DRB1 HGNC:4948 OMIM:142857 Reactome:P04229 SwissProt:P01911 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 21q22.13 HCS biotin--protein ligase ClinVar:HLCS Ensembl:ENSG00000159267 Genatlas:HLCS HGNC:4976 OMIM:609018 Reactome:P50747 SwissProt:P50747 HLCS holocarboxylase synthetase 11q23.3 ClinVar:HMBS Ensembl:ENSG00000256269 Genatlas:HMBS HGNC:4982 OMIM:609806 Reactome:P08397 SwissProt:P08397 HMBS hydroxymethylbilane synthase 1p36.11 HL HMG-CoA lyase HMGCL1 Hydroxymethylglutaryl-CoA lyase, mitochondrial hydroxymethylglutaricaciduria hydroxymethylglutaryl-CoA lyase ClinVar:HMGCL Ensembl:ENSG00000117305 Genatlas:HMGCL HGNC:5005 OMIM:613898 Reactome:P35914 SwissProt:P35914 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase 1p12 ClinVar:HMGCS2 Ensembl:ENSG00000134240 Genatlas:HMGCS2 HGNC:5008 IUPHAR:2432 OMIM:600234 Reactome:P54868 SwissProt:P54868 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 20q13.12 HNF4 NR2A1 ClinVar:HNF4A Ensembl:ENSG00000101076 Genatlas:HNF4A HGNC:5024 IUPHAR:608 OMIM:600281 Reactome:P41235 SwissProt:P41235 HNF4A hepatocyte nuclear factor 4 alpha 7p15.2 ClinVar:HOXA13 Ensembl:ENSG00000106031 Genatlas:HOXA13 HGNC:5102 OMIM:142959 SwissProt:P31271 HOXA13 homeobox A13 2q31.1 synpolydactyly ClinVar:HOXD13 Ensembl:ENSG00000128714 Genatlas:HOXD13 HGNC:5136 OMIM:142989 Reactome:P35453 SwissProt:P35453 HOXD13 homeobox D13 12q24.31 4-HPPD 4HPPD GLOD3 HPPD glyoxalase domain containing 3 ClinVar:HPD Ensembl:ENSG00000158104 Genatlas:HPD HGNC:5147 IUPHAR:2621 OMIM:609695 Reactome:P32754 SwissProt:P32754 HPD 4-hydroxyphenylpyruvate dioxygenase Xq26.2-q26.3 HGPRT Lesch-Nyhan syndrome hypoxanthine guanine phosphoribosyl transferase ClinVar:HPRT1 Ensembl:ENSG00000165704 Genatlas:HPRT1 HGNC:5157 OMIM:308000 Reactome:P00492 SwissProt:P00492 HPRT1 hypoxanthine phosphoribosyltransferase 1 10q24.2 BLOC3S1 ClinVar:HPS1 Ensembl:ENSG00000107521 Genatlas:HPS1 HGNC:5163 OMIM:604982 Reactome:Q92902 SwissProt:Q92902 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 3q24 BLOC2S1 SUTAL ClinVar:HPS3 Ensembl:ENSG00000163755 Genatlas:HPS3 HGNC:15597 OMIM:606118 SwissProt:Q969F9 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 22q12.1 BLOC3S2 KIAA1667 LE ClinVar:HPS4 Ensembl:ENSG00000100099 Genatlas:HPS4 HGNC:15844 OMIM:606682 Reactome:Q9NQG7 SwissProt:Q9NQG7 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 11p15.1 AIBP63 BLOC2S2 RU2 Ruby-eye protein 2 homolog alpha-integrin-binding protein 63 ClinVar:HPS5 Ensembl:ENSG00000110756 Genatlas:HPS5 HGNC:17022 OMIM:607521 SwissProt:Q9UPZ3 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 10q24.32 BLOC2S3 FLJ22501 ClinVar:HPS6 Ensembl:ENSG00000166189 Genatlas:HPS6 HGNC:18817 OMIM:607522 SwissProt:Q86YV9 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 8p21.3 AU ClinVar:HR Ensembl:ENSG00000168453 Genatlas:HR HGNC:5172 OMIM:602302 Reactome:O43593 SwissProt:O43593 HR HR lysine demethylase and nuclear receptor corepressor 11p15.5 ClinVar:HRAS Ensembl:ENSG00000174775 Genatlas:HRAS HGNC:5173 IUPHAR:2822 OMIM:190020 Reactome:P01112 SwissProt:P01112 HRAS HRas proto-oncogene, GTPase Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). Orphanet ICD-10:Q75.0 ICD-11:LD24.GY MeSH:C536788 MedDRA:10083963 OMIM:218600 UMLS:C0265308 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1225 Baller-Gerold syndrome ORPHA:1225 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536788 E (Exact mapping: the two concepts are equivalent) MedDRA:10083963 E (Exact mapping: the two concepts are equivalent) OMIM:218600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265308 E (Exact mapping: the two concepts are equivalent) 16q22.1 SDR9C3 short chain dehydrogenase/reductase family 9C, member 3 ClinVar:HSD11B2 Ensembl:ENSG00000176387 Genatlas:HSD11B2 HGNC:5209 IUPHAR:3143 OMIM:614232 Reactome:P80365 SwissProt:P80365 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 Xp11.22 17b-HSD10 AB-binding alcohol dehydrogenase ABAD CAMR ERAB MHBD MRPP2 SDR5C1 mitochondrial RNase P subunit 2 short chain dehydrogenase/reductase family 5C, member 1 type 10 17b-HSD type 10 17beta-hydroxysteroid dehydrogenase ClinVar:HSD17B10 Ensembl:ENSG00000072506 Genatlas:HSD17B10 HGNC:4800 OMIM:300256 Reactome:Q99714 SwissProt:Q99714 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 9q22.32 SDR12C2 short chain dehydrogenase/reductase family 12C, member 2 ClinVar:HSD17B3 Ensembl:ENSG00000130948 Genatlas:HSD17B3 HGNC:5212 OMIM:605573 Reactome:P37058 SwissProt:P37058 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 5q23.1 17-beta-HSD IV 17-beta-hydroxysteroid dehydrogenase 4 17beta-estradiol dehydrogenase type IV 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase D-3-hydroxyacyl-CoA dehydratase D-bifunctional protein, peroxisomal DBP MFE-2 SDR8C1 beta-hydroxyacyl dehydrogenase beta-keto-reductase peroxisomal multifunctional protein 2 short chain dehydrogenase/reductase family 8C, member 1 ClinVar:HSD17B4 Ensembl:ENSG00000133835 Genatlas:HSD17B4 HGNC:5213 OMIM:601860 Reactome:P51659 SwissProt:P51659 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 1p12 SDR11E2 short chain dehydrogenase/reductase family 11E, member 2 ClinVar:HSD3B2 Ensembl:ENSG00000203859 Genatlas:HSD3B2 HGNC:5218 IUPHAR:2622 OMIM:613890 Reactome:P26439 SwissProt:P26439 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 16p11.2 C(27)-3BETA-HSD SDR11E3 short chain dehydrogenase/reductase family 11E, member 3 ClinVar:HSD3B7 Ensembl:ENSG00000099377 Genatlas:HSD3B7 HGNC:18324 OMIM:607764 Reactome:Q9H2F3 SwissProt:Q9H2F3 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 16q22.1 ClinVar:HSF4 Ensembl:ENSG00000102878 Genatlas:HSF4 HGNC:5227 OMIM:602438 SwissProt:Q9ULV5 HSF4 heat shock transcription factor 4 7q11.23 CMT2F HSP27 HSP28 Hs.76067 Hsp25 ClinVar:HSPB1 Ensembl:ENSG00000106211 Genatlas:HSPB1 HGNC:5246 OMIM:602195 Reactome:P04792 SwissProt:P04792 HSPB1 heat shock protein family B (small) member 1 12q24.23 CMT2L E2IG1 H11 HSP22 HspB8 ClinVar:HSPB8 Ensembl:ENSG00000152137 Genatlas:HSPB8 HGNC:30171 OMIM:608014 Reactome:Q9UJY1 SwissProt:Q9UJY1 HSPB8 heat shock protein family B (small) member 8 3q21.1 FLJ22623 PASS1 ClinVar:HSPBAP1 Ensembl:ENSG00000169087 Genatlas:HSPBAP1 HGNC:16389 OMIM:608263 SwissProt:Q96EW2 HSPBAP1 HSPB1 associated protein 1 2q33.1 GROEL GroEL HSP60 ClinVar:HSPD1 Ensembl:ENSG00000144381 Genatlas:HSPD1 HGNC:5261 OMIM:118190 Reactome:P10809 SwissProt:P10809 HSPD1 heat shock protein family D (Hsp60) member 1 1p36.12 PRCAN endorepellin perlecan perlecan proteoglycan ClinVar:HSPG2 Ensembl:ENSG00000142798 Genatlas:HSPG2 HGNC:5273 OMIM:142461 Reactome:P98160 SwissProt:P98160 HSPG2 heparan sulfate proteoglycan 2 2p13.1 OMI PARK13 ClinVar:HTRA2 Ensembl:ENSG00000115317 Genatlas:HTRA2 HGNC:14348 OMIM:606441 Reactome:O43464 SwissProt:O43464 HTRA2 HtrA serine peptidase 2 3p21.31 FUS2 HYAL-1 LUCA1 NAT6 ClinVar:HYAL1 Ensembl:ENSG00000114378 Genatlas:HYAL1 HGNC:5320 OMIM:607071 Reactome:Q12794 SwissProt:Q12794 HYAL1 hyaluronidase 1 11q24.2 FLJ32915 ClinVar:HYLS1 Ensembl:ENSG00000198331 Genatlas:HYLS1 HGNC:26558 OMIM:610693 Reactome:Q96M11 SwissProt:Q96M11 HYLS1 HYLS1 centriolar and ciliogenesis associated 2q33.2 AILIM CD278 activation-inducible lymphocyte immunomediatory molecule ClinVar:ICOS Ensembl:ENSG00000163600 Genatlas:ICOS HGNC:5351 IUPHAR:2939 OMIM:604558 Reactome:Q9Y6W8 SwissProt:Q9Y6W8 ICOS inducible T cell costimulator Xq28 Hunter syndrome ID2S ClinVar:IDS Ensembl:ENSG00000010404 Genatlas:IDS HGNC:5389 OMIM:300823 Reactome:P22304 SwissProt:P22304 IDS iduronate 2-sulfatase 4p16.3 MPS1 MPSI mucopolysaccharidosis type I ClinVar:IDUA Ensembl:ENSG00000127415 Genatlas:IDUA HGNC:5391 OMIM:252800 Reactome:P35475 SwissProt:P35475 IDUA alpha-L-iduronidase 12q15 ClinVar:IFNG Ensembl:ENSG00000111537 Genatlas:IFNG HGNC:5438 OMIM:147570 Reactome:P01579 SwissProt:P01579 IFNG interferon gamma 6q23.3 CD119 ClinVar:IFNGR1 Ensembl:ENSG00000027697 Genatlas:IFNGR1 HGNC:5439 IUPHAR:1725 OMIM:107470 Reactome:P15260 SwissProt:P15260 IFNGR1 interferon gamma receptor 1 21q22.11 AF-1 ClinVar:IFNGR2 Ensembl:ENSG00000159128 Genatlas:IFNGR2 HGNC:5440 IUPHAR:1726 OMIM:147569 Reactome:P38484 SwissProt:P38484 IFNGR2 interferon gamma receptor 2 Xq13.1 a4 alpha 4 ClinVar:IGBP1 Ensembl:ENSG00000089289 Genatlas:IGBP1 HGNC:5461 OMIM:300139 Reactome:P78318 SwissProt:P78318 IGBP1 immunoglobulin binding protein 1 12q23.2 IGF IGF-I IGF1A IGFI somatomedin C ClinVar:IGF1 Ensembl:ENSG00000017427 Genatlas:IGF1 HGNC:5464 OMIM:147440 Reactome:P05019 SwissProt:P05019 IGF1 insulin like growth factor 1 14q32.33 ClinVar:IGHG1 Ensembl:ENSG00000211896 Genatlas:IGHG1 HGNC:5525 OMIM:147100 Reactome:P01857 SwissProt:P01857 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) 14q32.33 ClinVar:IGHM Ensembl:ENSG00000211899 Genatlas:IGHM HGNC:5541 OMIM:147020 Reactome:P01871 SwissProt:P01871 IGHM immunoglobulin heavy constant mu 11q13.3 CATF1 CMT2S HCSA HMN6 SMARD1 SMUBP2 ZFAND7 cardiac transcription factor 1 zinc finger, AN1-type domain 7 ClinVar:IGHMBP2 Ensembl:ENSG00000132740 Genatlas:IGHMBP2 HGNC:5542 OMIM:600502 SwissProt:P38935 IGHMBP2 immunoglobulin mu DNA binding protein 2 22q11.23 14.1 CD179B IGL5 IGVPB lambda 5 ClinVar:IGLL1 Ensembl:ENSG00000128322 Genatlas:IGLL1 HGNC:5870 OMIM:146770 Reactome:P15814 SwissProt:P15814 IGLL1 immunoglobulin lambda like polypeptide 1 Athyroidal hypothyroidism-spiky hair-cleft palate syndrome Bamforth syndrome Hypothyroidism-cleft palate syndrome A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Orphanet ICD-10:E03.1 ICD-11:5A00.0Y MeSH:C537901 OMIM:241850 UMLS:C1855794 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1226 Bamforth-Lazarus syndrome ORPHA:1226 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537901 E (Exact mapping: the two concepts are equivalent) OMIM:241850 E (Exact mapping: the two concepts are equivalent) UMLS:C1855794 E (Exact mapping: the two concepts are equivalent) 2q35 BDA1 HHG2 ClinVar:IHH Ensembl:ENSG00000163501 Genatlas:IHH HGNC:5956 OMIM:600726 Reactome:Q14623 SwissProt:Q14623 IHH Indian hedgehog signaling molecule 9q31.3 IKAP IKI3 TOT1 elongator acetyltransferase complex subunit 1 ClinVar:IKBKAP Ensembl:ENSG00000070061 Genatlas:IKBKAP HGNC:5959 OMIM:603722 Reactome:O95163 SwissProt:O95163 ELP1 elongator complex protein 1 Xq28 14.7K (adenovirus E3 protein) interacting protein 3 FIP-3 FIP3 Fip3p I-kappa-B kinase subunit gamma IKK-gamma IKKAP1 IKKG IkB kinase subunit gamma IkB kinase-associated protein 1 NEMO NF-kappa-B essential modulator ZC2HC9 ClinVar:IKBKG Ensembl:ENSG00000269335 Genatlas:IKBKG HGNC:5961 OMIM:300248 Reactome:Q9Y6K9 SwissProt:Q9Y6K9 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 1q32.1 CSIF IL-10 IL10A T-cell growth inhibitory factor TGIF cytokine synthesis inhibitory factor ClinVar:IL10 Ensembl:ENSG00000136634 Genatlas:IL10 HGNC:5962 OMIM:124092 Reactome:P22301 SwissProt:P22301 IL10 interleukin 10 5q33.3 CLMF CLMF2 IL-12B IL12, subunit p40 NKSF cytotoxic lymphocyte maturation factor 2, p40 interleukin 12, p40 interleukin-12 beta chain natural killer cell stimulatory factor, 40 kD subunit natural killer cell stimulatory factor-2 ClinVar:IL12B Ensembl:ENSG00000113302 Genatlas:IL12B HGNC:5970 OMIM:161561 Reactome:P29460 SwissProt:P29460 IL12B interleukin 12B 19p13.11 CD212 ClinVar:IL12RB1 Ensembl:ENSG00000096996 Genatlas:IL12RB1 HGNC:5971 IUPHAR:1715 OMIM:601604 Reactome:P42701 SwissProt:P42701 IL12RB1 interleukin 12 receptor subunit beta 1 1p31.3 IL-23R ClinVar:IL23R Ensembl:ENSG00000162594 Genatlas:IL23R HGNC:19100 IUPHAR:1717 OMIM:607562 Reactome:Q5VWK5 SwissProt:Q5VWK5 IL23R interleukin 23 receptor Xq13.1 CD132 ClinVar:IL2RG Ensembl:ENSG00000147168 Genatlas:IL2RG HGNC:6010 IUPHAR:2303 OMIM:308380 Reactome:P31785 SwissProt:P31785 IL2RG interleukin 2 receptor subunit gamma 7q32.1 LCA11 sWSS2608 ClinVar:IMPDH1 Ensembl:ENSG00000106348 Genatlas:IMPDH1 HGNC:6052 IUPHAR:2624 OMIM:146690 Reactome:P20839 SwissProt:P20839 IMPDH1 inosine monophosphate dehydrogenase 1 13q34 growth inhibitor ING1 growth inhibitory protein ING1 inhibitor of growth 1 p24ING1c p33 p33ING1 p33ING1b p47 p47ING1a tumor suppressor ING1 ClinVar:ING1 Ensembl:ENSG00000153487 Genatlas:ING1 HGNC:6062 OMIM:601566 Reactome:Q9UK53 SwissProt:Q9UK53 ING1 inhibitor of growth family member 1 19p13.2 CD220 ClinVar:INSR Ensembl:ENSG00000171105 Genatlas:INSR HGNC:6091 IUPHAR:1800 OMIM:147670 Reactome:P06213 SwissProt:P06213 INSR insulin receptor 9q31.1 nephrocystin 2 ClinVar:INVS Ensembl:ENSG00000119509 Genatlas:INVS HGNC:17870 OMIM:243305 SwissProt:Q9Y283 INVS inversin 3q13.33 KIAA0036 NPHP5 SLSN5 nephrocystin-5 ClinVar:IQCB1 Ensembl:ENSG00000173226 Genatlas:IQCB1 HGNC:28949 OMIM:609237 Reactome:Q15051 SwissProt:Q15051 IQCB1 IQ motif containing B1 12q12 NY-REN-64 ClinVar:IRAK4 Ensembl:ENSG00000198001 Genatlas:IRAK4 HGNC:17967 IUPHAR:2045 OMIM:606883 Reactome:Q9NWZ3 SwissProt:Q9NWZ3 IRAK4 interleukin 1 receptor associated kinase 4 1q32.2 OFC6 VWS1 ClinVar:IRF6 Ensembl:ENSG00000117595 Genatlas:IRF6 HGNC:6121 OMIM:607199 Reactome:O14896 SwissProt:O14896 IRF6 interferon regulatory factor 6 17q21.31 CD41 CD41B GPIIb Integrin alpha-IIb PPP1R93 platelet glycoprotein IIb of IIb/IIIa complex protein phosphatase 1, regulatory subunit 93 ClinVar:ITGA2B Ensembl:ENSG00000005961 Genatlas:ITGA2B HGNC:6138 IUPHAR:2441 OMIM:607759 Reactome:P08514 SwissProt:P08514 ITGA2B integrin subunit alpha 2b 2q31.1 CD49f ITGA6A ITGA6B VLA-6 very late activation protein 6 ClinVar:ITGA6 Ensembl:ENSG00000091409 Genatlas:ITGA6 HGNC:6142 IUPHAR:2445 OMIM:147556 Reactome:P23229 SwissProt:P23229 ITGA6 integrin subunit alpha 6 21q22.3 LFA-1 MAC-1 complement component 3 receptor 3 and 4 subunit ClinVar:ITGB2 Ensembl:ENSG00000160255 Genatlas:ITGB2 HGNC:6155 IUPHAR:2456 OMIM:600065 Reactome:P05107 SwissProt:P05107 ITGB2 integrin subunit beta 2 Ataxia-diabetes-goiter-gonadal insufficiency syndrome Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:E31.8 MeSH:C537902 OMIM:210740 UMLS:C0342284 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1227 Bangstad syndrome ORPHA:1227 ICD-10:E31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537902 E (Exact mapping: the two concepts are equivalent) OMIM:210740 E (Exact mapping: the two concepts are equivalent) UMLS:C0342284 E (Exact mapping: the two concepts are equivalent) 17q21.32 CD61 GPIIIa antigen CD61 platelet glycoprotein IIIa ClinVar:ITGB3 Ensembl:ENSG00000259207 Genatlas:ITGB3 HGNC:6156 IUPHAR:2457 OMIM:173470 Reactome:P05106 SwissProt:P05106 ITGB3 integrin subunit beta 3 17q25.1 CD104 ClinVar:ITGB4 Ensembl:ENSG00000132470 Genatlas:ITGB4 HGNC:6158 IUPHAR:2458 OMIM:147557 Reactome:P16144 SwissProt:P16144 ITGB4 integrin subunit beta 4 13q14.2 BRI BRI2 BRICD2B BRICHOS domain containing 2B E25B E3-16 ClinVar:ITM2B Ensembl:ENSG00000136156 Genatlas:ITM2B HGNC:6174 OMIM:603904 Reactome:Q9Y287 SwissProt:Q9Y287 ITM2B integral membrane protein 2B 15q15.1 ACAD2 IVDH ClinVar:IVD Ensembl:ENSG00000128928 Genatlas:IVD HGNC:6186 OMIM:607036 Reactome:P26440 SwissProt:P26440 IVD isovaleryl-CoA dehydrogenase 20p12.2 AHD AWS CD339 HJ1 ClinVar:JAG1 Ensembl:ENSG00000101384 Genatlas:JAG1 HGNC:6188 OMIM:601920 Reactome:P78504 SwissProt:P78504 JAG1 jagged canonical Notch ligand 1 9p24.1 JTK10 ClinVar:JAK2 Ensembl:ENSG00000096968 Genatlas:JAK2 HGNC:6192 IUPHAR:2048 OMIM:147796 Reactome:O60674 SwissProt:O60674 JAK2 Janus kinase 2 19p13.11 JAK-3 JAK3_HUMAN JAKL L-JAK LJAK leukocyte Janus kinase tyrosine-protein kinase JAK3 ClinVar:JAK3 Ensembl:ENSG00000105639 Genatlas:JAK3 HGNC:6193 IUPHAR:2049 OMIM:600173 Reactome:P52333 SwissProt:P52333 JAK3 Janus kinase 3 Xp11.22 DXS1272E XE169 ClinVar:KDM5C Ensembl:ENSG00000126012 Genatlas:KDM5C HGNC:11114 IUPHAR:2682 OMIM:314690 Reactome:P41229 SwissProt:P41229 KDM5C lysine demethylase 5C 16q24.2 CAGL237 HDL2 JP-3 JP3 junctophilin3 ClinVar:JPH3 Ensembl:ENSG00000154118 Genatlas:JPH3 HGNC:14203 OMIM:605268 SwissProt:Q8WXH2 JPH3 junctophilin 3 17q21.2 DP3 DPIII PDGB PG PKGB desmosomal protein 3 ClinVar:JUP Ensembl:ENSG00000173801 Genatlas:JUP HGNC:6207 OMIM:173325 Reactome:P14923 SwissProt:P14923 JUP junction plakoglobin Xp22.31 Adhesion molecule-like, X-linked KALIG-1 Kallmann syndrome interval gene 1 WAP four-disulfide core domain 19 WFDC19 anosmin-1 ClinVar:KAL1 Ensembl:ENSG00000011201 Genatlas:KAL1 HGNC:6211 OMIM:300836 Reactome:P23352 SwissProt:P23352 ANOS1 anosmin 1 12p13.32 HUK1 Kv1.1 MBK1 RBK1 ClinVar:KCNA1 Ensembl:ENSG00000111262 Genatlas:KCNA1 HGNC:6218 IUPHAR:538 OMIM:176260 Reactome:Q09470 SwissProt:Q09470 KCNA1 potassium voltage-gated channel subfamily A member 1 21q22.12 ISK IsK JLNS2 Jervell and Lange-Nielsen syndrome 2 LQT5 Long QT syndrome 5 minK ClinVar:KCNE1 Ensembl:ENSG00000180509 Genatlas:KCNE1 HGNC:6240 OMIM:176261 Reactome:P15382 SwissProt:P15382 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 Xq23 ClinVar:KCNE1L Ensembl:ENSG00000176076 Genatlas:KCNE1L HGNC:6241 OMIM:300328 Reactome:Q9UJ90 SwissProt:Q9UJ90 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 21q22.11 LQT6 MiRP1 ClinVar:KCNE2 Ensembl:ENSG00000159197 Genatlas:KCNE2 HGNC:6242 OMIM:603796 Reactome:Q9Y6J6 SwissProt:Q9Y6J6 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 11q13.4 HOKPP MiRP2 ClinVar:KCNE3 Ensembl:ENSG00000175538 Genatlas:KCNE3 HGNC:6243 OMIM:604433 Reactome:Q9Y6H6 SwissProt:Q9Y6H6 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 7q36.1 HERG Kv11.1 erg1 human ether-a-go-go-related gene long QT syndrome type 2 ClinVar:KCNH2 Ensembl:ENSG00000055118 Genatlas:KCNH2 HGNC:6251 IUPHAR:572 OMIM:152427 Reactome:Q12809 SwissProt:Q12809 KCNH2 potassium voltage-gated channel subfamily H member 2 11q24.3 ATP-sensitive inward rectifier potassium channel 1 Kir1.1 ROMK1 ClinVar:KCNJ1 Ensembl:ENSG00000151704 Genatlas:KCNJ1 HGNC:6255 IUPHAR:429 OMIM:600359 Reactome:P48048 SwissProt:P48048 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 11p15.1 ATP-sensitive inward rectifier potassium channel 11 BIR Kir6.2 beta-cell inward rectifier ClinVar:KCNJ11 Ensembl:ENSG00000187486 Genatlas:KCNJ11 HGNC:6257 IUPHAR:442 OMIM:600937 Reactome:Q14654 SwissProt:Q14654 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 17q24.3 IRK1 Kir2.1 LQT7 ClinVar:KCNJ2 Ensembl:ENSG00000123700 Genatlas:KCNJ2 HGNC:6263 IUPHAR:430 OMIM:600681 Reactome:P63252 SwissProt:P63252 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 10q22.3 BK channel alpha subunit KCa1.1 big potassium channel alpha subunit mSLO1 maxiK channel ClinVar:KCNMA1 Ensembl:ENSG00000156113 Genatlas:KCNMA1 HGNC:6284 IUPHAR:380 OMIM:600150 Reactome:Q12791 SwissProt:Q12791 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. Orphanet ICD-10:Q68.1 MeSH:C566228 OMIM:109300 UMLS:C1862319 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1228 Banki syndrome ORPHA:1228 ICD-10:Q68.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566228 E (Exact mapping: the two concepts are equivalent) OMIM:109300 E (Exact mapping: the two concepts are equivalent) UMLS:C1862319 E (Exact mapping: the two concepts are equivalent) 11p15.5-p15.4 JLNS1 Jervell and Lange-Nielsen syndrome 1 KCNA8 KVLQT1 Kv7.1 LQT1 ClinVar:KCNQ1 Ensembl:ENSG00000053918 Genatlas:KCNQ1 HGNC:6294 IUPHAR:560 OMIM:607542 Reactome:P51787 SwissProt:P51787 KCNQ1 potassium voltage-gated channel subfamily Q member 1 20q13.33 BFNC ENB1 HNSPC KCNA11 Kv7.2 ClinVar:KCNQ2 Ensembl:ENSG00000075043 Genatlas:KCNQ2 HGNC:6296 IUPHAR:561 OMIM:602235 Reactome:O43526 SwissProt:O43526 KCNQ2 potassium voltage-gated channel subfamily Q member 2 8q24.22 Kv7.3 ClinVar:KCNQ3 Ensembl:ENSG00000184156 Genatlas:KCNQ3 HGNC:6297 IUPHAR:562 OMIM:602232 Reactome:O43525 SwissProt:O43525 KCNQ3 potassium voltage-gated channel subfamily Q member 3 1p34.2 Kv7.4 ClinVar:KCNQ4 Ensembl:ENSG00000117013 Genatlas:KCNQ4 HGNC:6298 IUPHAR:563 OMIM:603537 Reactome:P56696 SwissProt:P56696 KCNQ4 potassium voltage-gated channel subfamily Q member 4 12q21.33 SLRR2B keratocan proteoglycan ClinVar:KERA Ensembl:ENSG00000139330 Genatlas:KERA HGNC:6309 OMIM:603288 Reactome:O60938 SwissProt:O60938 KERA keratocan 2p23.3 fructokinase ClinVar:KHK Ensembl:ENSG00000138030 Genatlas:KHK HGNC:6315 IUPHAR:3236 OMIM:614058 Reactome:P50053 SwissProt:P50053 KHK ketohexokinase 8q24.13 strumpellin ClinVar:KIAA0196 Ensembl:ENSG00000164961 Genatlas:KIAA0196 HGNC:28984 OMIM:610657 SwissProt:Q12768 WASHC5 WASH complex subunit 5 10q22.1 DKFZP586B0923 KBP TTC20 kinesin binding protein ClinVar:KIF1BP Ensembl:ENSG00000198954 Genatlas:KIF1BP HGNC:23419 OMIM:609367 SwissProt:Q96EK5 KIFBP kinesin family binding protein Xq13.3 KIDLIA MRX98 XLMR-related protein, neurite extension XPN ClinVar:KIAA2022 Ensembl:ENSG00000050030 Genatlas:KIAA2022 HGNC:29433 OMIM:300524 SwissProt:Q5QGS0 NEXMIF neurite extension and migration factor 1p36.22 Charcot-Marie-Tooth neuropathy type II HMSNII KIAA0591 KLP ClinVar:KIF1B Ensembl:ENSG00000054523 Genatlas:KIF1B HGNC:16636 OMIM:605995 Reactome:O60333 SwissProt:O60333 KIF1B kinesin family member 1B 12q12 FLJ20052 ClinVar:KIF21A Ensembl:ENSG00000139116 Genatlas:KIF21A HGNC:19349 OMIM:608283 Reactome:Q7Z4S6 SwissProt:Q7Z4S6 KIF21A kinesin family member 21A 12q13.3 D12S1889 MY050 NKHC neuron-specific kinesin heavy chain ClinVar:KIF5A Ensembl:ENSG00000155980 Genatlas:KIF5A HGNC:6323 OMIM:602821 Reactome:Q12840 SwissProt:Q12840 KIF5A kinesin family member 5A 19p13.3 AXOR12 HOT7T175 ClinVar:KISS1R Ensembl:ENSG00000116014 Genatlas:KISS1R HGNC:4510 IUPHAR:266 OMIM:604161 Reactome:Q969F8 SwissProt:Q969F8 KISS1R KISS1 receptor 4q12 C-Kit CD117 SCFR mast/stem cell growth factor receptor Kit ClinVar:KIT Ensembl:ENSG00000157404 Genatlas:KIT HGNC:6342 IUPHAR:1805 OMIM:164920 Reactome:P10721 SwissProt:P10721 KIT KIT proto-oncogene, receptor tyrosine kinase 2p25.1 FKLF MODY7 Tieg3 ClinVar:KLF11 Ensembl:ENSG00000172059 Genatlas:KLF11 HGNC:11811 OMIM:603301 SwissProt:O14901 KLF11 KLF transcription factor 11 4q35.2 Fletcher factor ClinVar:KLKB1 Ensembl:ENSG00000164344 Genatlas:KLKB1 HGNC:6371 IUPHAR:2379 OMIM:229000 Reactome:P03952 SwissProt:P03952 KLKB1 kallikrein B1 3q27.3 BK HMWK alpha-2-thiol proteinase inhibitor bradykinin high-molecular-weight kininogen ClinVar:KNG1 Ensembl:ENSG00000113889 Genatlas:KNG1 HGNC:6383 OMIM:612358 Reactome:P01042 SwissProt:P01042 KNG1 kininogen 1 12p12.1 K-Ras4B KRAS1 ClinVar:KRAS Ensembl:ENSG00000133703 Genatlas:KRAS HGNC:6407 IUPHAR:2824 OMIM:190070 Reactome:P01116 SwissProt:P01116 KRAS KRAS proto-oncogene, GTPase 7q21.2 CAM Krev interaction trapped 1 ClinVar:KRIT1 Ensembl:ENSG00000001631 Genatlas:KRIT1 HGNC:1573 OMIM:604214 SwissProt:O00522 KRIT1 KRIT1 ankyrin repeat containing 12q13.13 KRT1A ClinVar:KRT1 Ensembl:ENSG00000167768 Genatlas:KRT1 HGNC:6412 OMIM:139350 Reactome:P04264 SwissProt:P04264 KRT1 keratin 1 17q21.2 CK10 K10 cytokeratin 10 epidermolytic hyperkeratosis ClinVar:KRT10 Ensembl:ENSG00000186395 Genatlas:KRT10 HGNC:6413 OMIM:148080 Reactome:P13645 SwissProt:P13645 KRT10 keratin 10 17q21.2 K12 Meesmann corneal dystrophy ClinVar:KRT12 Ensembl:ENSG00000187242 Genatlas:KRT12 HGNC:6414 OMIM:601687 Reactome:Q99456 SwissProt:Q99456 KRT12 keratin 12 17q21.2 epidermolysis bullosa simplex, Dowling-Meara, Koebner ClinVar:KRT14 Ensembl:ENSG00000186847 Genatlas:KRT14 HGNC:6416 OMIM:148066 Reactome:P02533 SwissProt:P02533 KRT14 keratin 14 BLC-PMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome Bilateral band-like calcification with polymicrogyria Microcephaly-intracranial calcification-intellectual disability syndrome Pseudo-TORCH syndrome Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Orphanet ICD-10:Q87.8 ICD-11:LD20.2 MeSH:C537905 OMIM:251290 UMLS:C2931662 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1229 Congenital intrauterine infection-like syndrome ORPHA:1229 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537905 E (Exact mapping: the two concepts are equivalent) OMIM:251290 E (Exact mapping: the two concepts are equivalent) UMLS:C2931662 E (Exact mapping: the two concepts are equivalent) 17q21.2 NEPPK focal non-epidermolytic palmoplantar keratoderma ClinVar:KRT16 Ensembl:ENSG00000186832 Genatlas:KRT16 HGNC:6423 OMIM:148067 Reactome:P08779 SwissProt:P08779 KRT16 keratin 16 17q21.2 ClinVar:KRT17 Ensembl:ENSG00000128422 Genatlas:KRT17 HGNC:6427 OMIM:148069 Reactome:Q04695 SwissProt:Q04695 KRT17 keratin 17 12q13.13 KRTE epidermal ichthyosis bullosa of Siemens ClinVar:KRT2 Ensembl:ENSG00000172867 Genatlas:KRT2 HGNC:6439 OMIM:600194 Reactome:P35908 SwissProt:P35908 KRT2 keratin 2 12q13.13 CK3 K3 cytokeratin 3 keratin, type II cytoskeletal 3 ClinVar:KRT3 Ensembl:ENSG00000186442 Genatlas:KRT3 HGNC:6440 OMIM:148043 Reactome:P12035 SwissProt:P12035 KRT3 keratin 3 12q13.13 CK-5 KRT5A ClinVar:KRT5 Ensembl:ENSG00000186081 Genatlas:KRT5 HGNC:6442 OMIM:148040 Reactome:P13647 SwissProt:P13647 KRT5 keratin 5 12q13.13 CK6C CK6D K6C K6D ClinVar:KRT6A Ensembl:ENSG00000205420 Genatlas:KRT6A HGNC:6443 OMIM:148041 Reactome:P02538 SwissProt:P02538 KRT6A keratin 6A 12q13.13 ClinVar:KRT6B Ensembl:ENSG00000185479 Genatlas:KRT6B HGNC:6444 OMIM:148042 Reactome:P04259 SwissProt:P04259 KRT6B keratin 6B 12q13.13 Hb-1 hard keratin type II 1 ClinVar:KRT81 Ensembl:ENSG00000205426 Genatlas:KRT81 HGNC:6458 OMIM:602153 Reactome:Q14533 SwissProt:Q14533 KRT81 keratin 81 12q13.13 Hb-3 hard keratin type II ClinVar:KRT83 Ensembl:ENSG00000170523 Genatlas:KRT83 HGNC:6460 OMIM:602765 Reactome:P78385 SwissProt:P78385 KRT83 keratin 83 12q13.13 Hb-5 hard keratin type II ClinVar:KRT85 Ensembl:ENSG00000135443 Genatlas:KRT85 HGNC:6462 OMIM:602767 Reactome:P78386 SwissProt:P78386 KRT85 keratin 85 12q13 Hb6 MNX hard keratin type II 6 ClinVar:KRT86 Ensembl:ENSG00000170442 Genatlas:KRT86 HGNC:6463 OMIM:601928 Reactome:O43790 SwissProt:O43790 KRT86 keratin 86 17q21.2 CK-9 EPPK K9 cytokeratin 9 epidermolytic palmoplantar keratoderma type I cytoskeletal 9 ClinVar:KRT9 Ensembl:ENSG00000171403 Genatlas:KRT9 HGNC:6447 OMIM:607606 Reactome:P35527 SwissProt:P35527 KRT9 keratin 9 Xq28 CAML1 CD171 NCAM-L1 neural cell adhesion molecule L1 ClinVar:L1CAM Ensembl:ENSG00000198910 Genatlas:L1CAM HGNC:6470 OMIM:308840 Reactome:P32004 SwissProt:P32004 L1CAM L1 cell adhesion molecule 14q21.3 2-hydroxyglutarate dehydrogenase FLJ12618 ClinVar:L2HGDH Ensembl:ENSG00000087299 Genatlas:L2HGDH HGNC:20499 OMIM:609584 Reactome:Q9H9P8 SwissProt:Q9H9P8 L2HGDH L-2-hydroxyglutarate dehydrogenase 6q22.33 congenital muscular dystrophy merosin ClinVar:LAMA2 Ensembl:ENSG00000196569 Genatlas:LAMA2 HGNC:6482 OMIM:156225 Reactome:P24043 SwissProt:P24043 LAMA2 laminin subunit alpha 2 18q11.2 BM600-150kDa epiligrin kalinin-165kDa nicein-150kDa ClinVar:LAMA3 Ensembl:ENSG00000053747 Genatlas:LAMA3 HGNC:6483 OMIM:600805 Reactome:Q16787 SwissProt:Q16787 LAMA3 laminin subunit alpha 3 3p21.31 NPHS5 laminin S ClinVar:LAMB2 Ensembl:ENSG00000172037 Genatlas:LAMB2 HGNC:6487 OMIM:150325 Reactome:P55268 SwissProt:P55268 LAMB2 laminin subunit beta 2 1q32.2 BM600-125kDa kalinin-140kDa nicein-125kDa ClinVar:LAMB3 Ensembl:ENSG00000196878 Genatlas:LAMB3 HGNC:6490 OMIM:150310 Reactome:Q13751 SwissProt:Q13751 LAMB3 laminin subunit beta 3 1q25.3 BM600-100kDa kalinin-105kDa nicein-100kDa ClinVar:LAMC2 Ensembl:ENSG00000058085 Genatlas:LAMC2 HGNC:6493 OMIM:150292 Reactome:Q13753 SwissProt:Q13753 LAMC2 laminin subunit gamma 2 Xq24 CD107b ClinVar:LAMP2 Ensembl:ENSG00000005893 Genatlas:LAMP2 HGNC:6501 OMIM:309060 Reactome:P13473 SwissProt:P13473 LAMP2 lysosomal associated membrane protein 2 22q12.3 KIAA0609 like-acetylglucosaminyltransferase ClinVar:LARGE Ensembl:ENSG00000133424 Genatlas:LARGE HGNC:6511 OMIM:603590 Reactome:O95461 SwissProt:O95461 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 Deafness-pili torti-hypogonadism syndrome Hearing loss-pili torti-hypogonadism syndrome ICD-10:E88.8 ICD-11:EC21.1 MeSH:C537633 OMIM:262000 UMLS:C0266006 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=123 Björnstad syndrome ORPHA:123 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537633 E (Exact mapping: the two concepts are equivalent) OMIM:262000 E (Exact mapping: the two concepts are equivalent) UMLS:C0266006 E (Exact mapping: the two concepts are equivalent) 1q42.12 DHCR14B TDRD18 tudor domain containing 18 ClinVar:LBR Ensembl:ENSG00000143815 Genatlas:LBR HGNC:6518 OMIM:600024 Reactome:Q14739 SwissProt:Q14739 LBR lamin B receptor 16q22.1 phosphatidylcholine--sterol O-acyltransferase ClinVar:LCAT Ensembl:ENSG00000213398 Genatlas:LCAT HGNC:6522 OMIM:606967 Reactome:P04180 SwissProt:P04180 LCAT lecithin-cholesterol acyltransferase 2q21.3 ClinVar:LCT Ensembl:ENSG00000115850 Genatlas:LCT HGNC:6530 OMIM:603202 Reactome:P09848 SwissProt:P09848 LCT lactase 10q23.2 KIAA0613 PDLIM6 Z-band alternatively spliced PDZ motif protein ZASP cypher oracle ClinVar:LDB3 Ensembl:ENSG00000122367 Genatlas:LDB3 HGNC:15710 OMIM:605906 SwissProt:O75112 LDB3 LIM domain binding 3 11p15.1 ClinVar:LDHA Ensembl:ENSG00000134333 Genatlas:LDHA HGNC:6535 OMIM:150000 Reactome:P00338 SwissProt:P00338 LDHA lactate dehydrogenase A 12p12.1 ClinVar:LDHB Ensembl:ENSG00000111716 Genatlas:LDHB HGNC:6541 OMIM:150100 Reactome:P07195 SwissProt:P07195 LDHB lactate dehydrogenase B 19p13.2 LDLCQ2 familial hypercholesterolemia ClinVar:LDLR Ensembl:ENSG00000130164 Genatlas:LDLR HGNC:6547 OMIM:606945 Reactome:P01130 SwissProt:P01130 LDLR low density lipoprotein receptor 1p36.11 ARH ARH2 DKFZp586D0624 FHCB1 FHCB2 MGC34705 autosomal recessive hypercholesterolemia ClinVar:LDLRAP1 Ensembl:ENSG00000157978 Genatlas:LDLRAP1 HGNC:18640 OMIM:605747 Reactome:Q5SW96 SwissProt:Q5SW96 LDLRAP1 low density lipoprotein receptor adaptor protein 1 12q14.3 MAN antigen 1 MAN1 inner nuclear membrane protein Man1 ClinVar:LEMD3 Ensembl:ENSG00000174106 Genatlas:LEMD3 HGNC:28887 OMIM:607844 Reactome:Q9Y2U8 SwissProt:Q9Y2U8 LEMD3 LEM domain containing 3 7q32.1 ClinVar:LEP Ensembl:ENSG00000174697 Genatlas:LEP HGNC:6553 OMIM:164160 Reactome:P41159 SwissProt:P41159 LEP leptin 1p31.3 CD295 OBR ClinVar:LEPR Ensembl:ENSG00000116678 Genatlas:LEPR HGNC:6554 IUPHAR:1712 OMIM:601007 Reactome:P48357 SwissProt:P48357 LEPR leptin receptor 10q23.33 EPITEMPIN ETL1 Epitempin-1 IB1099 ClinVar:LGI1 Ensembl:ENSG00000108231 Genatlas:LGI1 HGNC:6572 OMIM:604619 Reactome:O95970 SwissProt:O95970 LGI1 leucine rich glioma inactivated 1 19q13.33 CGB4 LSH-B hLHB interstitial cell stimulating hormone, beta chain luteinizing hormone beta subunit lutropin, beta chain ClinVar:LHB Ensembl:ENSG00000104826 Genatlas:LHB HGNC:6584 OMIM:152780 Reactome:P01229 SwissProt:P01229 LHB luteinizing hormone subunit beta 2p16.3 LCGR LGR2 LHR ULG5 luteinizing hormone receptor ClinVar:LHCGR Ensembl:ENSG00000138039 Genatlas:LHCGR HGNC:6585 IUPHAR:254 OMIM:152790 Reactome:P22888 SwissProt:P22888 LHCGR luteinizing hormone/choriogonadotropin receptor 9q34.3 ClinVar:LHX3 Ensembl:ENSG00000107187 Genatlas:LHX3 HGNC:6595 OMIM:600577 SwissProt:Q9UBR4 LHX3 LIM homeobox 3 5p13.1 CD118 ClinVar:LIFR Ensembl:ENSG00000113594 Genatlas:LIFR HGNC:6597 IUPHAR:1713 OMIM:151443 Reactome:P42702 SwissProt:P42702 LIFR LIF receptor subunit alpha 13q33.3 DNA joinase DNA ligase IV DNA repair enzyme polydeoxyribonucleotide synthase [ATP] 4 polynucleotide ligase sealase ClinVar:LIG4 Ensembl:ENSG00000174405 Genatlas:LIG4 HGNC:6601 OMIM:601837 Reactome:P49917 SwissProt:P49917 LIG4 DNA ligase 4 7q11.23 LIMK ClinVar:LIMK1 Ensembl:ENSG00000106683 Genatlas:LIMK1 HGNC:6613 IUPHAR:2054 OMIM:601329 Reactome:P53667 SwissProt:P53667 LIMK1 LIM domain kinase 1 10q23.31 CESD LAL Wolman disease lysosomal acid lipase sterol esterase ClinVar:LIPA Ensembl:ENSG00000107798 Genatlas:LIPA HGNC:6617 OMIM:613497 Reactome:P38571 SwissProt:P38571 LIPA lipase A, lysosomal acid type 16p13.13 FLJ38636 PIG7 SIMPLE TP53I7 ClinVar:LITAF Ensembl:ENSG00000189067 Genatlas:LITAF HGNC:16841 OMIM:603795 Reactome:Q99732 SwissProt:Q99732 LITAF lipopolysaccharide induced TNF factor 18q21.32 ERGIC-53 ERGIC53 FMFD1 MCFD1 MR60 endoplasmic reticulum-golgi intermediate compartment protein 53 gp58 ClinVar:LMAN1 Ensembl:ENSG00000074695 Genatlas:LMAN1 HGNC:6631 OMIM:601567 Reactome:P49257 SwissProt:P49257 LMAN1 lectin, mannose binding 1 7q36.3 ACHP FLJ11665 ZRS ClinVar:LMBR1 Ensembl:ENSG00000105983 Genatlas:LMBR1 HGNC:13243 OMIM:605522 SwissProt:Q8WVP7 LMBR1 limb development membrane protein 1 1q22 HGPS MADA mandibuloacral dysplasia type A progerin ClinVar:LMNA Ensembl:ENSG00000160789 Genatlas:LMNA HGNC:6636 OMIM:150330 Reactome:P02545 SwissProt:P02545 LMNA lamin A/C 5q23.2 ClinVar:LMNB1 Ensembl:ENSG00000113368 Genatlas:LMNB1 HGNC:6637 OMIM:150340 Reactome:P20700 SwissProt:P20700 LMNB1 lamin B1 Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. Orphanet ICD-10:Q87.0 ICD-11:LD27.3 MeSH:C537908 OMIM:209885 UMLS:C1319466 Autosomal dominant Autosomal recessive Not applicable Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1231 Barber-Say syndrome ORPHA:1231 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537908 E (Exact mapping: the two concepts are equivalent) OMIM:209885 E (Exact mapping: the two concepts are equivalent) UMLS:C1319466 E (Exact mapping: the two concepts are equivalent) 9q33.3 ClinVar:LMX1B Ensembl:ENSG00000136944 Genatlas:LMX1B HGNC:6654 OMIM:602575 SwissProt:O60663 LMX1B LIM homeobox transcription factor 1 beta 1q21.3 ClinVar:LOR Ensembl:ENSG00000203782 Genatlas:LOR HGNC:6663 OMIM:152445 Reactome:P23490 SwissProt:P23490 LORICRIN loricrin cornified envelope precursor protein 18p11.31 KIAA0249 Phosphatidate phosphatase LPIN2 ClinVar:LPIN2 Ensembl:ENSG00000101577 Genatlas:LPIN2 HGNC:14450 IUPHAR:1436 OMIM:605519 Reactome:Q92539 SwissProt:Q92539 LPIN2 lipin 2 8p21.3 ClinVar:LPL Ensembl:ENSG00000175445 Genatlas:LPL HGNC:6677 OMIM:609708 Reactome:P06858 SwissProt:P06858 LPL lipoprotein lipase 11q13.2 BMND1 EVR4 HBM LR3 OPS OPTA1 VBCH2 ClinVar:LRP5 Ensembl:ENSG00000162337 Genatlas:LRP5 HGNC:6697 OMIM:603506 Reactome:O75197 SwissProt:O75197 LRP5 LDL receptor related protein 5 2p21 GP130 LRP130 ClinVar:LRPPRC Ensembl:ENSG00000138095 Genatlas:LRPPRC HGNC:15714 OMIM:607544 Reactome:P42704 SwissProt:P42704 LRPPRC leucine rich pentatricopeptide repeat containing 9q34.11 FLJ10337 KIAA1437 SWELL1 ClinVar:LRRC8A Ensembl:ENSG00000136802 Genatlas:LRRC8A HGNC:19027 OMIM:608360 Reactome:Q8IWT6 SwissProt:Q8IWT6 LRRC8A leucine rich repeat containing 8 VRAC subunit A 4q24 beta-mannosidase A ClinVar:MANBA Ensembl:ENSG00000109323 Genatlas:MANBA HGNC:6831 OMIM:609489 Reactome:O00462 SwissProt:O00462 MANBA mannosidase beta Xp11.3 ClinVar:MAOA Ensembl:ENSG00000189221 Genatlas:MAOA HGNC:6833 IUPHAR:2489 OMIM:309850 Reactome:P21397 SwissProt:P21397 MAOA monoamine oxidase A 15q22.31 MAP kinase kinase 1 MAPK/ERK kinase 1 MAPKK1 MEK1 MKK1 dual specificity mitogen-activated protein kinase kinase 1 ClinVar:MAP2K1 Ensembl:ENSG00000169032 Genatlas:MAP2K1 HGNC:6840 IUPHAR:2062 OMIM:176872 Reactome:Q02750 SwissProt:Q02750 MAP2K1 mitogen-activated protein kinase kinase 1 19p13.3 MAP kinase kinase 2 MEK2 MKK2 ClinVar:MAP2K2 Ensembl:ENSG00000126934 Genatlas:MAP2K2 HGNC:6842 IUPHAR:2063 OMIM:601263 Reactome:P36507 SwissProt:P36507 MAP2K2 mitogen-activated protein kinase kinase 2 17q21.31 FLJ31424 FTDP-17 G protein beta1/gamma2 subunit-interacting factor 1 MGC138549 MSTD MTBT1 MTBT2 PPND PPP1R103 TAU Tau-PHF6 Tau-derived paired helical filament hexapeptide microtubule-associated protein tau, isoform 4 protein phosphatase 1, regulatory subunit 103 tau tau-40 ClinVar:MAPT Ensembl:ENSG00000186868 Genatlas:MAPT HGNC:6893 OMIM:157140 Reactome:P10636 SwissProt:P10636 MAPT microtubule associated protein tau 10p12.1 FLJ14813 Gwl THC2 greatwall kinase homolog ClinVar:MASTL Ensembl:ENSG00000120539 Genatlas:MASTL HGNC:19042 IUPHAR:1514 OMIM:608221 Reactome:Q96GX5 SwissProt:Q96GX5 MASTL microtubule associated serine/threonine kinase like 2p24.1 EDM5 HOA ClinVar:MATN3 Ensembl:ENSG00000132031 Genatlas:MATN3 HGNC:6909 OMIM:602109 Reactome:O15232 SwissProt:O15232 MATN3 matrilin 3 18p11.21 ACTHR adrenocorticotropic hormone receptor ClinVar:MC2R Ensembl:ENSG00000185231 Genatlas:MC2R HGNC:6930 IUPHAR:283 OMIM:607397 Reactome:Q01718 SwissProt:Q01718 MC2R melanocortin 2 receptor 3q27.1 3-methylcrotonyl-CoA carboxylase biotin containing subunit MCCA MCCCa methylcrotonoyl-CoA carboxylase alpha ClinVar:MCCC1 Ensembl:ENSG00000078070 Genatlas:MCCC1 HGNC:6936 OMIM:609010 Reactome:Q96RQ3 SwissProt:Q96RQ3 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 5q13.2 3-methylcrotonyl-CoA carboxylase non-biotin containing subunit MCCB MCCCß methylcrotonoyl-CoA carboxylase beta ClinVar:MCCC2 Ensembl:ENSG00000131844 Genatlas:MCCC2 HGNC:6937 OMIM:609014 Reactome:Q9HCC0 SwissProt:Q9HCC0 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 2p21 F5F8D LMAN1IP SDNSF ClinVar:MCFD2 Ensembl:ENSG00000180398 Genatlas:MCFD2 HGNC:18451 OMIM:607788 Reactome:Q8NI22 SwissProt:Q8NI22 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit 19p13.2 ML4 MLIV MST080 MSTP080 TRPM-L1 TRPML1 mucolipidosis type IV transient receptor potential cation channel mucolipin subfamily member 1 transient receptor potential mucolipin 1 ClinVar:MCOLN1 Ensembl:ENSG00000090674 Genatlas:MCOLN1 HGNC:13356 IUPHAR:501 OMIM:605248 Reactome:Q9GZU1 SwissProt:Q9GZU1 MCOLN1 mucolipin TRP cation channel 1 8p23.1 BRCT-repeat inhibitor of TERT expression 1 BRIT1 FLJ12847 ClinVar:MCPH1 Ensembl:ENSG00000147316 Genatlas:MCPH1 HGNC:6954 OMIM:607117 Reactome:Q8NEM0 SwissProt:Q8NEM0 MCPH1 microcephalin 1 Xq28 ClinVar:MECP2 Ensembl:ENSG00000169057 Genatlas:MECP2 HGNC:6990 OMIM:300005 Reactome:P51608 SwissProt:P51608 MECP2 methyl-CpG binding protein 2 16p13.3 FMF TRIM20 marenostrin ClinVar:MEFV Ensembl:ENSG00000103313 Genatlas:MEFV HGNC:6998 OMIM:608107 Reactome:O15553 SwissProt:O15553 MEFV MEFV innate immunity regulator, pyrin 11q13 menin ClinVar:MEN1 Ensembl:ENSG00000133895 Genatlas:MEN1 HGNC:7010 OMIM:613733 Reactome:O00255 SwissProt:O00255 MEN1 menin 1 2q13 RP38 Tyro12 c-Eyk mer ClinVar:MERTK Ensembl:ENSG00000153208 Genatlas:MERTK HGNC:7027 IUPHAR:1837 OMIM:604705 Reactome:Q12866 SwissProt:Q12866 MERTK MER proto-oncogene, tyrosine kinase This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:K22.7 NON RARE IN EUROPE: Barrett esophagus ORPHA:1232 ICD-10:K22.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 7q31.2 DFNB97 HGFR RCCP2 hepatocyte growth factor receptor ClinVar:MET Ensembl:ENSG00000105976 Genatlas:MET HGNC:7029 IUPHAR:1815 OMIM:164860 Reactome:P08581 SwissProt:P08581 MET MET proto-oncogene, receptor tyrosine kinase 1p36.22 CMT2A2 CPRP1 KIAA0214 MARF ClinVar:MFN2 Ensembl:ENSG00000116688 Genatlas:MFN2 HGNC:16877 IUPHAR:3131 OMIM:608507 Reactome:O95140 SwissProt:O95140 MFN2 mitofusin 2 11q23.3 C1QTNF5 C1q and TNF related 5 FLJ30570 NNO2 membrane-type frizzled-related protein rd6 ClinVar:MFRP Ensembl:ENSG00000235718 Genatlas:MFRP HGNC:18121 OMIM:606227 SwissProt:Q9BY79 MFRP membrane frizzled-related protein 14q21.3 GNT-II ClinVar:MGAT2 Ensembl:ENSG00000168282 Genatlas:MGAT2 HGNC:7045 OMIM:602616 Reactome:Q10469 SwissProt:Q10469 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 12p12.3 ClinVar:MGP Ensembl:ENSG00000111341 Genatlas:MGP HGNC:7060 OMIM:154870 SwissProt:P08493 MGP matrix Gla protein Xp22.2 FXY OS Opitz/BBB syndrome RNF59 TRIM18 ClinVar:MID1 Ensembl:ENSG00000101871 Genatlas:MID1 HGNC:7095 OMIM:300552 Reactome:O15344 SwissProt:O15344 MID1 midline 1 22q11.23 GIF glycosylation-inhibiting factor phenylpyruvate tautomerase ClinVar:MIF Ensembl:ENSG00000240972 Genatlas:MIF HGNC:7097 OMIM:153620 Reactome:P14174 SwissProt:P14174 MIF macrophage migration inhibitory factor 12q13.3 AQP0 LIM1 MP26 aquaporin 0 ClinVar:MIP Ensembl:ENSG00000135517 Genatlas:MIP HGNC:7103 IUPHAR:687 OMIM:154050 Reactome:P30301 SwissProt:P30301 MIP major intrinsic protein of lens fiber 3p13 MI bHLHe32 homolog of mouse microphthalmia ClinVar:MITF Ensembl:ENSG00000187098 Genatlas:MITF HGNC:7105 OMIM:156845 Reactome:O75030 SwissProt:O75030 MITF melanocyte inducing transcription factor 20p12.2 ClinVar:MKKS Ensembl:ENSG00000125863 Genatlas:MKKS HGNC:7108 OMIM:604896 Reactome:Q9NPJ1 SwissProt:Q9NPJ1 MKKS MKKS centrosomal shuttling protein 17q22 BBS13 FLJ20345 POC12 POC12 centriolar protein homolog (Chlamydomonas) ClinVar:MKS1 Ensembl:ENSG00000011143 Genatlas:MKS1 HGNC:7121 OMIM:609883 Reactome:Q9NXB0 SwissProt:Q9NXB0 MKS1 MKS transition zone complex subunit 1 22q13.33 KIAA0027 LVM MLC VL ClinVar:MLC1 Ensembl:ENSG00000100427 Genatlas:MLC1 HGNC:17082 OMIM:605908 SwissProt:Q15049 MLC1 modulator of VRAC current 1 3p22.2 FCC2 HNPCC HNPCC2 MLH-1 ClinVar:MLH1 Ensembl:ENSG00000076242 Genatlas:MLH1 HGNC:7127 OMIM:120436 Reactome:P40692 SwissProt:P40692 MLH1 mutL homolog 1 11q23.3 ALL-1 ALL1 CXXC7 HRX HTRX HTRX1 Histone-lysine N-methyltransferase 2A MLL1 MLL1A TRX1 ClinVar:KMT2A Ensembl:ENSG00000118058 Genatlas:KMT2A HGNC:7132 IUPHAR:2688 OMIM:159555 Reactome:Q03164 SwissProt:Q03164 KMT2A lysine methyltransferase 2A 2q37.3 SLAC2-A Slac-2a exophilin-3 l(1)-3Rk l1Rk3 ln synaptotagmin-like protein homologue lacking C2 domains-a ClinVar:MLPH Ensembl:ENSG00000115648 Genatlas:MLPH HGNC:29643 OMIM:606526 SwissProt:Q9BV36 MLPH melanophilin 16q23.3 MCD hMCD ClinVar:MLYCD Ensembl:ENSG00000103150 Genatlas:MLYCD HGNC:7150 IUPHAR:1275 OMIM:606761 Reactome:O95822 SwissProt:O95822 MLYCD malonyl-CoA decarboxylase 4q31.21 cblA ClinVar:MMAA Ensembl:ENSG00000151611 Genatlas:MMAA HGNC:18871 OMIM:607481 Reactome:Q8IVH4 SwissProt:Q8IVH4 MMAA metabolism of cobalamin associated A 12q24.11 ATP:cob(I)alamin adenosyltransferase CFAP23 cblB cilia and flagella associated protein 23 ClinVar:MMAB Ensembl:ENSG00000139428 Genatlas:MMAB HGNC:19331 OMIM:607568 Reactome:Q96EY8 SwissProt:Q96EY8 MMAB metabolism of cobalamin associated B 12q12 DKFZp434H2111 FLJ45829 RIPK7 ROCO2 dardarin ClinVar:LRRK2 Ensembl:ENSG00000188906 Genatlas:LRRK2 HGNC:18618 IUPHAR:2059 OMIM:609007 Reactome:Q5S007 SwissProt:Q5S007 LRRK2 leucine rich repeat kinase 2 1q42.3 CHS Mauve ClinVar:LYST Ensembl:ENSG00000143669 Genatlas:LYST HGNC:1968 OMIM:606897 SwissProt:Q99698 LYST lysosomal trafficking regulator 12q15 renal amyloidosis ClinVar:LYZ Ensembl:ENSG00000090382 Genatlas:LYZ HGNC:6740 OMIM:153450 Reactome:P61626 SwissProt:P61626 LYZ lysozyme 15q11.2 nM15 ClinVar:MAGEL2 Ensembl:ENSG00000254585 Genatlas:MAGEL2 HGNC:6814 OMIM:605283 Reactome:Q9UJ55 SwissProt:Q9UJ55 MAGEL2 MAGE family member L2 19p13.13 LAMAN lysosomal alpha-mannosidase ClinVar:MAN2B1 Ensembl:ENSG00000104774 Genatlas:MAN2B1 HGNC:6826 OMIM:609458 Reactome:O00754 SwissProt:O00754 MAN2B1 mannosidase alpha class 2B member 1 3q21.3 MGC14452 NPD002 ClinVar:ACAD9 Ensembl:ENSG00000177646 Genatlas:ACAD9 HGNC:21497 OMIM:611103 Reactome:Q9H845 SwissProt:Q9H845 ACAD9 acyl-CoA dehydrogenase family member 9 11q25 isobutyryl-CoA dehydrogenase ClinVar:ACAD8 Ensembl:ENSG00000151498 Genatlas:ACAD8 HGNC:87 OMIM:604773 Reactome:Q9UKU7 SwissProt:Q9UKU7 ACAD8 acyl-CoA dehydrogenase family member 8 11p15.5 ASM ASM1 D11S813E LINC00008 MIR675 host gene MIR675HG NCRNA00008 adult skeletal muscle long intergenic non-protein coding RNA 8 non-protein coding RNA 8 ClinVar:H19 Ensembl:ENSG00000130600 Genatlas:H19 HGNC:4713 OMIM:103280 H19 H19 imprinted maternally expressed transcript 2q35 ClinVar:WNT10A Ensembl:ENSG00000135925 Genatlas:WNT10A HGNC:13829 OMIM:606268 Reactome:Q9GZT5 SwissProt:Q9GZT5 WNT10A Wnt family member 10A 7p15.2 ClinVar:HOXA11 Ensembl:ENSG00000005073 Genatlas:HOXA11 HGNC:5101 OMIM:142958 SwissProt:P31270 HOXA11 homeobox A11 16q22.1 DOR1 FLJ22315 ClinVar:COG8 Ensembl:ENSG00000213380 Genatlas:COG8 HGNC:18623 OMIM:606979 Reactome:Q96MW5 SwissProt:Q96MW5 COG8 component of oligomeric golgi complex 8 22q12.1 ClinVar:CRYBB1 Ensembl:ENSG00000100122 Genatlas:CRYBB1 HGNC:2397 OMIM:600929 Reactome:P53674 SwissProt:P53674 CRYBB1 crystallin beta B1 9q34.3 ClinVar:NOTCH1 Ensembl:ENSG00000148400 Genatlas:NOTCH1 HGNC:7881 IUPHAR:2861 OMIM:190198 Reactome:P46531 SwissProt:P46531 NOTCH1 notch receptor 1 7p15.2 ClinVar:HOXA1 Ensembl:ENSG00000105991 Genatlas:HOXA1 HGNC:5099 OMIM:142955 Reactome:P49639 SwissProt:P49639 HOXA1 homeobox A1 6p21.32 D6S114E PSF1 RING4 ClinVar:TAP1 Ensembl:ENSG00000168394 Genatlas:TAP1 HGNC:43 IUPHAR:769 OMIM:170260 Reactome:Q03518 SwissProt:Q03518 TAP1 transporter 1, ATP binding cassette subfamily B member 6p21.32 NGS17 TAPA TPN TPSN tapasin ClinVar:TAPBP Ensembl:ENSG00000231925 Genatlas:TAPBP HGNC:11566 OMIM:601962 Reactome:O15533 SwissProt:O15533 TAPBP TAP binding protein 6p12.1-p11.2 ClinVar:RAB23 Ensembl:ENSG00000112210 Genatlas:RAB23 HGNC:14263 OMIM:606144 Reactome:Q9ULC3 SwissProt:Q9ULC3 RAB23 RAB23, member RAS oncogene family 9q34.11 DK1 KIAA1094 dolichol kinase 1 ClinVar:DOLK Ensembl:ENSG00000175283 Genatlas:DOLK HGNC:23406 OMIM:610746 Reactome:Q9UPQ8 SwissProt:Q9UPQ8 DOLK dolichol kinase 19p12 CISS CISS1 CLF CLF-1 cold-induced sweating syndrome ClinVar:CRLF1 Ensembl:ENSG00000006016 Genatlas:CRLF1 HGNC:2364 OMIM:604237 Reactome:O75462 SwissProt:O75462 CRLF1 cytokine receptor like factor 1 7q31.32 LKR/SDH LKRSDH LORSDH alpha-aminoadipic semialdehyde synthase lysine ketoglutarate reductase/saccharopine dehydrogenase saccharopine dehydrogenase (NAD(+), L-glutamate-forming) saccharopine dehydrogenase (NADP(+), L-lysine-forming) ClinVar:AASS Ensembl:ENSG00000008311 Genatlas:AASS HGNC:17366 OMIM:605113 Reactome:Q9UDR5 SwissProt:Q9UDR5 AASS aminoadipate-semialdehyde synthase 5q22.2 DP2 DP2.5 DP3 PPP1R46 protein phosphatase 1, regulatory subunit 46 ClinVar:APC Ensembl:ENSG00000134982 Genatlas:APC HGNC:583 OMIM:611731 Reactome:P25054 SwissProt:P25054 APC APC regulator of WNT signaling pathway Autosomal recessive popliteal pterygium syndrome Lethal popliteal pterygium syndrome Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. Orphanet ICD-10:Q87.2 ICD-11:LD26.4Y MeSH:C564874 OMIM:263650 OMIM:619339 UMLS:C1849718 Autosomal recessive Antenatal Neonatal Spain AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1234 Bartsocas-Papas syndrome ORPHA:1234 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564874 E (Exact mapping: the two concepts are equivalent) OMIM:263650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619339 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1849718 E (Exact mapping: the two concepts are equivalent) 15q26.1 BS RECQ2 RECQL3 ClinVar:BLM Ensembl:ENSG00000197299 Genatlas:BLM HGNC:1058 IUPHAR:3260 OMIM:604610 Reactome:P54132 SwissProt:P54132 BLM BLM RecQ like helicase 6p22.2 HFE1 HLA-H high Fe ClinVar:HFE Ensembl:ENSG00000010704 Genatlas:HFE HGNC:4886 OMIM:613609 Reactome:Q30201 SwissProt:Q30201 HFE homeostatic iron regulator 1q21.1 HFE2A HJV JH RGMC haemojuvelin hemojuvelin repulsive guidance molecule c ClinVar:HFE2 Ensembl:ENSG00000168509 Genatlas:HFE2 HGNC:4887 OMIM:608374 Reactome:Q6ZVN8 SwissProt:Q6ZVN8 HJV hemojuvelin BMP co-receptor 2p23.3 ACTH CLIP LPH MSH NPP POC adrenocorticotropic hormone adrenocorticotropin alpha-melanocyte stimulating hormone beta-endorphin beta-lipotropin beta-melanocyte stimulating hormone opiomelanocortin prepropeptide ClinVar:POMC Ensembl:ENSG00000115138 Genatlas:POMC HGNC:9201 OMIM:176830 Reactome:P01189 SwissProt:P01189 POMC proopiomelanocortin 2p21 ATR1 CSNU1 D2H NBAT RBAT amino acid transporter 1 neutral and basic amino acid transport protein rBAT ClinVar:SLC3A1 Ensembl:ENSG00000138079 Genatlas:SLC3A1 HGNC:11025 IUPHAR:889 OMIM:104614 Reactome:Q07837 SwissProt:Q07837 SLC3A1 solute carrier family 3 member 1 17q21.31 DAND6 VBCH ClinVar:SOST Ensembl:ENSG00000167941 Genatlas:SOST HGNC:13771 OMIM:605740 Reactome:Q9BQB4 SwissProt:Q9BQB4 SOST sclerostin 1p34.1 DKFZP564I122 cblC ClinVar:MMACHC Ensembl:ENSG00000132763 Genatlas:MMACHC HGNC:24525 OMIM:609831 Reactome:Q9Y4U1 SwissProt:Q9Y4U1 MMACHC metabolism of cobalamin associated C 11q22.2 CLG3 collagenase 3 ClinVar:MMP13 Ensembl:ENSG00000137745 Genatlas:MMP13 HGNC:7159 IUPHAR:1637 OMIM:600108 Reactome:P45452 SwissProt:P45452 MMP13 matrix metallopeptidase 13 16q12.2 TBE-1 ClinVar:MMP2 Ensembl:ENSG00000087245 Genatlas:MMP2 HGNC:7166 IUPHAR:1629 OMIM:120360 Reactome:P08253 SwissProt:P08253 MMP2 matrix metallopeptidase 2 18q12.2 FLJ20733 HMCS MCS MOS human molybdenum cofactor sulfurase ClinVar:MOCOS Ensembl:ENSG00000075643 Genatlas:MOCOS HGNC:18234 OMIM:613274 Reactome:Q96EN8 SwissProt:Q96EN8 MOCOS molybdenum cofactor sulfurase 6p21.2 MOCOD MOCS1A MOCS1B ClinVar:MOCS1 Ensembl:ENSG00000124615 Genatlas:MOCS1 HGNC:7190 OMIM:603707 Reactome:Q9NZB8 SwissProt:Q9NZB8 MOCS1 molybdenum cofactor synthesis 1 5q11.2 MOCO1 MOCS2A MOCS2B molybdopterin synthase catalytic subunit molybdopterin synthase large subunit molybdopterin synthase small subunit ClinVar:MOCS2 Ensembl:ENSG00000164172 Genatlas:MOCS2 HGNC:7193 OMIM:603708 Reactome:O96007 Reactome:O96033 SwissProt:O96007 SwissProt:O96033 MOCS2 molybdenum cofactor synthesis 2 17p13.1 CDGIf Lec35 PQLC5 SL15 SLC66A5 ClinVar:MPDU1 Ensembl:ENSG00000129255 Genatlas:MPDU1 HGNC:7207 IUPHAR:3164 OMIM:604041 Reactome:O75352 SwissProt:O75352 MPDU1 mannose-P-dolichol utilization defect 1 15q24.1 mannose-6-phosphate isomerase ClinVar:MPI Ensembl:ENSG00000178802 Genatlas:MPI HGNC:7216 OMIM:154550 Reactome:P34949 SwissProt:P34949 MPI mannose phosphate isomerase 1p34.2 CD110 THPOR TPOR ClinVar:MPL Ensembl:ENSG00000117400 Genatlas:MPL HGNC:7217 IUPHAR:1722 OMIM:159530 Reactome:P40238 SwissProt:P40238 MPL MPL proto-oncogene, thrombopoietin receptor 17q22 ClinVar:MPO Ensembl:ENSG00000005381 Genatlas:MPO HGNC:7218 IUPHAR:2789 OMIM:606989 Reactome:P05164 SwissProt:P05164 MPO myeloperoxidase 2p23.3 SYM1 glomerulosclerosis ClinVar:MPV17 Ensembl:ENSG00000115204 Genatlas:MPV17 HGNC:7224 OMIM:137960 SwissProt:P39210 MPV17 mitochondrial inner membrane protein MPV17 1q23.3 CMT2I CMT2J HMSNIB P0 ClinVar:MPZ Ensembl:ENSG00000158887 Genatlas:MPZ HGNC:7225 OMIM:159440 SwissProt:P25189 MPZ myelin protein zero 21q22.11 B27 FALP MRAP1 ClinVar:MRAP Ensembl:ENSG00000170262 Genatlas:MRAP HGNC:1304 OMIM:609196 SwissProt:Q8TCY5 MRAP melanocortin 2 receptor accessory protein 11q21 AT-like disease ATLD ClinVar:MRE11A Ensembl:ENSG00000020922 Genatlas:MRE11A HGNC:7230 OMIM:600814 Reactome:P49959 SwissProt:P49959 MRE11 MRE11 homolog, double strand break repair nuclease 2p21-p16.3 DNA mismatch repair protein Msh2 HNPCC HNPCC1 MSH-2 ClinVar:MSH2 Ensembl:ENSG00000095002 Genatlas:MSH2 HGNC:7325 OMIM:609309 Reactome:P43246 SwissProt:P43246 MSH2 mutS homolog 2 2p16.3 MSH-6 ClinVar:MSH6 Ensembl:ENSG00000116062 Genatlas:MSH6 HGNC:7329 OMIM:600678 Reactome:P52701 SwissProt:P52701 MSH6 mutS homolog 6 4p16.2 HYD1 OFC5 ClinVar:MSX1 Ensembl:ENSG00000163132 Genatlas:MSX1 HGNC:7391 OMIM:142983 SwissProt:P28360 MSX1 msh homeobox 1 OBSOLETE: Basan syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Absence of fingerprints-congenital milia syndrome OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome ORPHA:1235 5q35.2 CRS2 FPP HOX8 MSH PFM craniosynostosis, type 2 ClinVar:MSX2 Ensembl:ENSG00000120149 Genatlas:MSX2 HGNC:7392 OMIM:123101 Reactome:P35548 SwissProt:P35548 MSX2 msh homeobox 2 mitochondria ATP6 ATPase-6 Su6m mitochondrially encoded ATP synthase membrane subunit a ClinVar:MT-ATP6 Ensembl:ENSG00000198899 Genatlas:MT-ATP6 HGNC:7414 IUPHAR:801 OMIM:516060 Reactome:P00846 SwissProt:P00846 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 mitochondria COI COX1 ClinVar:MT-CO1 Ensembl:ENSG00000198804 Genatlas:MT-CO1 HGNC:7419 OMIM:516030 Reactome:P00395 SwissProt:P00395 MT-CO1 mitochondrially encoded cytochrome c oxidase I mitochondria CO2 COX2 ClinVar:MT-CO2 Ensembl:ENSG00000198712 Genatlas:MT-CO2 HGNC:7421 OMIM:516040 Reactome:P00403 SwissProt:P00403 MT-CO2 mitochondrially encoded cytochrome c oxidase II mitochondria CO3 COIII COX3 ClinVar:MT-CO3 Ensembl:ENSG00000198938 Genatlas:MT-CO3 HGNC:7422 OMIM:516050 Reactome:P00414 SwissProt:P00414 MT-CO3 mitochondrially encoded cytochrome c oxidase III mitochondria COB CYTB UQCR3 ClinVar:MT-CYB Ensembl:ENSG00000198727 Genatlas:MT-CYB HGNC:7427 OMIM:516020 Reactome:P00156 SwissProt:P00156 MT-CYB mitochondrially encoded cytochrome b 1p36.22 ClinVar:MTHFR Ensembl:ENSG00000177000 Genatlas:MTHFR HGNC:7436 OMIM:607093 Reactome:P42898 SwissProt:P42898 MTHFR methylenetetrahydrofolate reductase Xq28 ClinVar:MTM1 Ensembl:ENSG00000171100 Genatlas:MTM1 HGNC:7448 OMIM:300415 Reactome:Q13496 SwissProt:Q13496 MTM1 myotubularin 1 11q21 KIAA1073 phosphatidylinositol-3-phosphatase phosphoinositide-3-phosphatase ClinVar:MTMR2 Ensembl:ENSG00000087053 Genatlas:MTMR2 HGNC:7450 OMIM:603557 Reactome:Q13614 SwissProt:Q13614 MTMR2 myotubularin related protein 2 mitochondria NAD1 NADH-ubiquinone oxidoreductase chain 1 ND1 complex I ND1 subunit ClinVar:MT-ND1 Ensembl:ENSG00000198888 Genatlas:MT-ND1 HGNC:7455 OMIM:516000 Reactome:P03886 SwissProt:P03886 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 mitochondria NAD2 NADH-ubiquinone oxidoreductase chain 2 ND2 complex I ND2 subunit ClinVar:MT-ND2 Ensembl:ENSG00000198763 Genatlas:MT-ND2 HGNC:7456 OMIM:516001 Reactome:P03891 SwissProt:P03891 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 mitochondria NAD3 NADH-ubiquinone oxidoreductase chain 3 ND3 complex I ND3 subunit ClinVar:MT-ND3 Ensembl:ENSG00000198840 Genatlas:MT-ND3 HGNC:7458 OMIM:516002 Reactome:P03897 SwissProt:P03897 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 mitochondria NAD4 NADH-ubiquinone oxidoreductase chain 4 ND4 complex I ND4 subunit ClinVar:MT-ND4 Ensembl:ENSG00000198886 Genatlas:MT-ND4 HGNC:7459 OMIM:516003 Reactome:P03905 SwissProt:P03905 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 mitochondria NAD4L NADH-ubiquinone oxidoreductase chain 4L ND4L complex I ND4L subunit ClinVar:MT-ND4L Ensembl:ENSG00000212907 Genatlas:MT-ND4L HGNC:7460 OMIM:516004 Reactome:P03901 SwissProt:P03901 MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L mitochondria NAD5 NADH-ubiquinone oxidoreductase chain 5 ND5 complex I ND5 subunit ClinVar:MT-ND5 Ensembl:ENSG00000198786 Genatlas:MT-ND5 HGNC:7461 OMIM:516005 Reactome:P03915 SwissProt:P03915 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 mitochondria NAD6 NADH-ubiquinone oxidoreductase chain 6 ND6 complex I ND6 subunit ClinVar:MT-ND6 Ensembl:ENSG00000198695 Genatlas:MT-ND6 HGNC:7462 OMIM:516006 Reactome:P03923 SwissProt:P03923 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 1q43 Methionine synthase cblG ClinVar:MTR Ensembl:ENSG00000116984 Genatlas:MTR HGNC:7468 IUPHAR:3099 OMIM:156570 Reactome:Q99707 SwissProt:Q99707 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 5p15.31 Methionine synthase reductase cblE ClinVar:MTRR Ensembl:ENSG00000124275 Genatlas:MTRR HGNC:7473 OMIM:602568 Reactome:Q9UBK8 SwissProt:Q9UBK8 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 4q23 ABL ClinVar:MTTP Ensembl:ENSG00000138823 Genatlas:MTTP HGNC:7467 OMIM:157147 Reactome:P55157 SwissProt:P55157 MTTP microsomal triglyceride transfer protein 6p12.3 MCM Methylmalonyl-CoA mutase, mitochondrial ClinVar:MUT Ensembl:ENSG00000146085 Genatlas:MUT HGNC:7526 OMIM:609058 Reactome:P22033 SwissProt:P22033 MMUT methylmalonyl-CoA mutase 1p34.1 MYH ClinVar:MUTYH Ensembl:ENSG00000132781 Genatlas:MUTYH HGNC:7527 OMIM:604933 Reactome:Q9UIF7 SwissProt:Q9UIF7 MUTYH mutY DNA glycosylase 12q24.11 LH receptor mRNA-binding protein LRBP MK mevalonic aciduria ClinVar:MVK Ensembl:ENSG00000110921 Genatlas:MVK HGNC:7530 IUPHAR:640 OMIM:251170 Reactome:Q03426 SwissProt:Q03426 MVK mevalonate kinase 11p11.2 FHC MYBP-C cMyBP-C ClinVar:MYBPC3 Ensembl:ENSG00000134571 Genatlas:MYBPC3 HGNC:7551 IUPHAR:2880 OMIM:600958 Reactome:Q14896 SwissProt:Q14896 MYBPC3 myosin binding protein C3 A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 UMLS:C5190778 No data available Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190778 E (Exact mapping: the two concepts are equivalent) 2p24.3 MYCNOT N-myc bHLHe37 ClinVar:MYCN Ensembl:ENSG00000134323 Genatlas:MYCN HGNC:7559 OMIM:164840 Reactome:P04198 SwissProt:P04198 MYCN MYCN proto-oncogene, bHLH transcription factor 12q21.31 MRF4 bHLHc4 herculin muscle-specific regulatory factor 4 ClinVar:MYF6 Ensembl:ENSG00000111046 Genatlas:MYF6 HGNC:7566 OMIM:159991 Reactome:P23409 SwissProt:P23409 MYF6 myogenic factor 6 16p13.11 SMHC SMMHC SMMS-1 ClinVar:MYH11 Ensembl:ENSG00000133392 Genatlas:MYH11 HGNC:7569 OMIM:160745 Reactome:P35749 SwissProt:P35749 MYH11 myosin heavy chain 11 19q13.33 FLJ13881 KIAA2034 MHC16 MYH17 ClinVar:MYH14 Ensembl:ENSG00000105357 Genatlas:MYH14 HGNC:23212 OMIM:608568 Reactome:Q7Z406 SwissProt:Q7Z406 MYH14 myosin heavy chain 14 17p13.1 MYH2A MYHSA2 MYHas8 MyHC-2A MyHC-IIa ClinVar:MYH2 Ensembl:ENSG00000125414 Genatlas:MYH2 HGNC:7572 OMIM:160740 Reactome:Q9UKX2 SwissProt:Q9UKX2 MYH2 myosin heavy chain 2 17p13.1 HEMHC MYHC-EMB MYHSE1 SMHCE muscle embryonic myosin heavy chain 3 myosin, skeletal, heavy chain, embryonic 1 ClinVar:MYH3 Ensembl:ENSG00000109063 Genatlas:MYH3 HGNC:7573 OMIM:160720 Reactome:P11055 SwissProt:P11055 MYH3 myosin heavy chain 3 14q11.2 cardiomyopathy, hypertrophic 1 ClinVar:MYH6 Ensembl:ENSG00000197616 Genatlas:MYH6 HGNC:7576 OMIM:160710 Reactome:P13533 SwissProt:P13533 MYH6 myosin heavy chain 6 14q11.2 CMD1S ClinVar:MYH7 Ensembl:ENSG00000092054 Genatlas:MYH7 HGNC:7577 OMIM:160760 Reactome:P12883 SwissProt:P12883 MYH7 myosin heavy chain 7 17p13.1 MyHC-peri MyHC-pn ClinVar:MYH8 Ensembl:ENSG00000133020 Genatlas:MYH8 HGNC:7578 OMIM:160741 Reactome:P13535 SwissProt:P13535 MYH8 myosin heavy chain 8 22q12.3 EPSTS FTNS MHA NMHC-II-A NMMHCA nonmuscle myosin heavy chain II-A ClinVar:MYH9 Ensembl:ENSG00000100345 Genatlas:MYH9 HGNC:7579 OMIM:160775 Reactome:P35579 SwissProt:P35579 MYH9 myosin heavy chain 9 12q24.11 CMH10 cardiac ventricular myosin light chain 2 ClinVar:MYL2 Ensembl:ENSG00000111245 Genatlas:MYL2 HGNC:7583 OMIM:160781 Reactome:P10916 SwissProt:P10916 MYL2 myosin light chain 2 17p11.2 ClinVar:MYO15A Ensembl:ENSG00000091536 Genatlas:MYO15A HGNC:7594 OMIM:602666 SwissProt:Q9UKN7 MYO15A myosin XVA 15q21.2 GS1 MYO5 MYR12 Unconventional myosin-Va myosin V myosin heavy chain 12 myosin, heavy polypeptide kinase myoxin ClinVar:MYO5A Ensembl:ENSG00000197535 Genatlas:MYO5A HGNC:7602 OMIM:160777 Reactome:Q9Y4I1 SwissProt:Q9Y4I1 MYO5A myosin VA 6q14.1 KIAA0389 ClinVar:MYO6 Ensembl:ENSG00000196586 Genatlas:MYO6 HGNC:7605 OMIM:600970 Reactome:Q9UM54 SwissProt:Q9UM54 MYO6 myosin VI 11q13.5 NSRD2 ClinVar:MYO7A Ensembl:ENSG00000137474 Genatlas:MYO7A HGNC:7606 OMIM:276903 Reactome:Q13402 SwissProt:Q13402 MYO7A myosin VIIA 1q24.3 JOAG1 TIGR juvenile-onset open-angle glaucoma 1 trabecular meshwork inducible glucocorticoid response protein ClinVar:MYOC Ensembl:ENSG00000034971 Genatlas:MYOC HGNC:7610 OMIM:601652 SwissProt:Q99972 MYOC myocilin 5q31.2 ClinVar:MYOT Ensembl:ENSG00000120729 Genatlas:MYOT HGNC:12399 OMIM:604103 Reactome:Q9UBF9 SwissProt:Q9UBF9 MYOT myotilin 22q13.2 D22S674 alpha-galactosidase B ClinVar:NAGA Ensembl:ENSG00000198951 Genatlas:NAGA HGNC:7631 OMIM:104170 SwissProt:P17050 NAGA alpha-N-acetylgalactosaminidase 17q21.2 NAG Sanfilippo disease IIIB ClinVar:NAGLU Ensembl:ENSG00000108784 Genatlas:NAGLU HGNC:7632 OMIM:609701 Reactome:P54802 SwissProt:P54802 NAGLU N-acetyl-alpha-glucosaminidase 17q21.31 AGAS ARGA NAT7 ClinVar:NAGS Ensembl:ENSG00000161653 Genatlas:NAGS HGNC:17996 OMIM:608300 Reactome:Q8N159 SwissProt:Q8N159 NAGS N-acetylglutamate synthase 5q13.2 NLR family, BIR domain containing 1 NLRB1 nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 ClinVar:NAIP Ensembl:ENSG00000249437 Genatlas:NAIP HGNC:7634 IUPHAR:2793 OMIM:600355 SwissProt:Q13075 NAIP NLR family apoptosis inhibitory protein 8q21.3 AT-V1 AT-V2 ATV ClinVar:NBN Ensembl:ENSG00000104320 Genatlas:NBN HGNC:7652 OMIM:602667 Reactome:O60934 SwissProt:O60934 NBN nibrin 7q11.23 NADPH oxidase organizer 2 NCF1A NOXO2 SH3PXD1A chronic granulomatous disease, autosomal 1 p47phox ClinVar:NCF1 Ensembl:ENSG00000158517 Genatlas:NCF1 HGNC:7660 OMIM:608512 Reactome:P14598 SwissProt:P14598 NCF1 neutrophil cytosolic factor 1 Lethal hydrocephalus-cardiac malformation-dense bones syndrome Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:Q87.8 MeSH:C537668 OMIM:209970 UMLS:C1859526 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1237 Beemer-Ertbruggen syndrome ORPHA:1237 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537668 E (Exact mapping: the two concepts are equivalent) OMIM:209970 E (Exact mapping: the two concepts are equivalent) UMLS:C1859526 E (Exact mapping: the two concepts are equivalent) 1q25.3 NADPH oxidase activator 2 NOXA2 chronic granulomatous disease, autosomal 2 p67phox ClinVar:NCF2 Ensembl:ENSG00000116701 Genatlas:NCF2 HGNC:7661 OMIM:608515 Reactome:P19878 SwissProt:P19878 NCF2 neutrophil cytosolic factor 2 15q11.2 HsT16328 PWCR Prader-Willi syndrome chromosome region ClinVar:NDN Ensembl:ENSG00000182636 Genatlas:NDN HGNC:7675 OMIM:602117 Reactome:Q99608 SwissProt:Q99608 NDN necdin, MAGE family member Xp11.3 norrin ClinVar:NDP Ensembl:ENSG00000124479 Genatlas:NDP HGNC:7678 OMIM:300658 Reactome:Q00604 SwissProt:Q00604 NDP norrin cystine knot growth factor NDP 8q24.22 DRG1 NDR1 RTP TDD5 ClinVar:NDRG1 Ensembl:ENSG00000104419 Genatlas:NDRG1 HGNC:7679 OMIM:605262 Reactome:Q92597 SwissProt:Q92597 NDRG1 N-myc downstream regulated 1 5q12.1 B17.2L MMTN Myc-induced mitochondrial protein mimitin ClinVar:NDUFAF2 Ensembl:ENSG00000164182 Genatlas:NDUFAF2 HGNC:28086 OMIM:609653 Reactome:Q8N183 SwissProt:Q8N183 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 2q33.3 CI-75k NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial complex I 75kDa subunit ClinVar:NDUFS1 Ensembl:ENSG00000023228 Genatlas:NDUFS1 HGNC:7707 OMIM:157655 Reactome:P28331 SwissProt:P28331 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 1q23.3 CI-49 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial complex I 49kDa subunit ClinVar:NDUFS2 Ensembl:ENSG00000158864 Genatlas:NDUFS2 HGNC:7708 OMIM:602985 Reactome:O75306 SwissProt:O75306 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 11p11.2 CI-30 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial complex I 30kDa subunit ClinVar:NDUFS3 Ensembl:ENSG00000213619 Genatlas:NDUFS3 HGNC:7710 OMIM:603846 Reactome:O75489 SwissProt:O75489 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 5q11.2 AQDQ CI-18 complex I 18kDa subunit ClinVar:NDUFS4 Ensembl:ENSG00000164258 Genatlas:NDUFS4 HGNC:7711 OMIM:602694 Reactome:O43181 SwissProt:O43181 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 5p15.33 CI-13kA NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial complex I 13kDa subunit A ClinVar:NDUFS6 Ensembl:ENSG00000145494 Genatlas:NDUFS6 HGNC:7713 OMIM:603848 Reactome:O75380 SwissProt:O75380 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 19p13.3 CI-20 FLJ45860 FLJ46880 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial PSST complex I 20kDa subunit ClinVar:NDUFS7 Ensembl:ENSG00000115286 Genatlas:NDUFS7 HGNC:7714 OMIM:601825 Reactome:O75251 SwissProt:O75251 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 11q13.2 CI-23k NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial TYKY complex I 23kDa subunit ClinVar:NDUFS8 Ensembl:ENSG00000110717 Genatlas:NDUFS8 HGNC:7715 OMIM:602141 Reactome:O00217 SwissProt:O00217 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 11q13.2 CI-51K NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial complex I 51kDa subunit ClinVar:NDUFV1 Ensembl:ENSG00000167792 Genatlas:NDUFV1 HGNC:7716 OMIM:161015 Reactome:P49821 SwissProt:P49821 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 18p11.22 CI-24k NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial complex I 24kDa subunit ClinVar:NDUFV2 Ensembl:ENSG00000178127 Genatlas:NDUFV2 HGNC:7717 OMIM:600532 Reactome:P19404 SwissProt:P19404 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 2q23.3 NEB177D nemaline myopathy type 2 ClinVar:NEB Ensembl:ENSG00000183091 Genatlas:NEB HGNC:7720 OMIM:161650 Reactome:P20929 SwissProt:P20929 NEB nebulin 22q12.2 NF-H NFH ClinVar:NEFH Ensembl:ENSG00000100285 Genatlas:NEFH HGNC:7737 OMIM:162230 SwissProt:P12036 NEFH neurofilament heavy chain 8p21.2 CMT1F CMT2E NF68 NFL PPP1R110 protein phosphatase 1, regulatory subunit 110 ClinVar:NEFL Ensembl:ENSG00000277586 Genatlas:NEFL HGNC:7739 OMIM:162280 Reactome:P07196 SwissProt:P07196 NEFL neurofilament light chain 9q34.3 ClinVar:NELF Ensembl:ENSG00000165802 Genatlas:NELF HGNC:29843 OMIM:608137 SwissProt:Q6X4W1 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor 6p21.33 sialidase-1 ClinVar:NEU1 Ensembl:ENSG00000204386 Genatlas:NEU1 HGNC:7758 IUPHAR:3214 OMIM:608272 Reactome:Q99519 SwissProt:Q99519 NEU1 neuraminidase 1 2q31.3 BETA2 BHF-1 MODY6 NeuroD bHLHa3 beta-cell E-box transactivator 2 neurogenic helix-loop-helix protein NEUROD ClinVar:NEUROD1 Ensembl:ENSG00000162992 Genatlas:NEUROD1 HGNC:7762 OMIM:601724 Reactome:Q13562 SwissProt:Q13562 NEUROD1 neuronal differentiation 1 10q22.1 Atoh5 Math4B bHLHa7 ngn3 ClinVar:NEUROG3 Ensembl:ENSG00000122859 Genatlas:NEUROG3 HGNC:13806 OMIM:604882 Reactome:Q9Y4Z2 SwissProt:Q9Y4Z2 NEUROG3 neurogenin 3 17q11.2 Watson disease neurofibromatosis von Recklinghausen disease ClinVar:NF1 Ensembl:ENSG00000196712 Genatlas:NF1 HGNC:7765 OMIM:613113 Reactome:P21359 SwissProt:P21359 NF1 neurofibromin 1 22q12.2 ACN BANF Merlin SCH bilateral acoustic neurofibromatosis merlin merlin-1 moesin-ezrin-radixin like schwannomin ClinVar:NF2 Ensembl:ENSG00000186575 Genatlas:NF2 HGNC:7773 OMIM:607379 Reactome:P35240 SwissProt:P35240 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor 1p13.2 ClinVar:NGF Ensembl:ENSG00000134259 Genatlas:NGF HGNC:7808 OMIM:162030 Reactome:P01138 SwissProt:P01138 NGF nerve growth factor 6p22.3 EPM2B bA204B7.2 epilepsy, progressive myoclonus type 2B malin ClinVar:NHLRC1 Ensembl:ENSG00000187566 Genatlas:NHLRC1 HGNC:21576 OMIM:608072 Reactome:Q6VVB1 SwissProt:Q6VVB1 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 Xp22.2-p22.13 ClinVar:NHS Ensembl:ENSG00000188158 Genatlas:NHS HGNC:7820 OMIM:300457 SwissProt:Q6T4R5 NHS NHS actin remodeling regulator 15q11.2 MGC35570 SLC57A1 ClinVar:NIPA1 Ensembl:ENSG00000170113 Genatlas:NIPA1 HGNC:17043 IUPHAR:3033 OMIM:608145 Reactome:Q7RTP0 SwissProt:Q7RTP0 NIPA1 NIPA magnesium transporter 1 5p13.2 DKFZp434L1319 FLJ11203 FLJ12597 FLJ13354 FLJ13648 IDN3 Scc2 sister chromatid cohesion 2 homolog (yeast) ClinVar:NIPBL Ensembl:ENSG00000164190 Genatlas:NIPBL HGNC:28862 OMIM:608667 Reactome:Q6KC79 SwissProt:Q6KC79 NIPBL NIPBL cohesin loading factor 5q35.1 CSX1 NKX2.5 NKX4-1 tinman (Drosophila) homolog tinman paralog (Drosophila) ClinVar:NKX2-5 Ensembl:ENSG00000183072 Genatlas:NKX2-5 HGNC:2488 OMIM:600584 Reactome:P52952 SwissProt:P52952 NKX2-5 NK2 homeobox 5 1q44 AGTAVPRL AII AVP CLR1.1 Cryopyrin FCAS FCU MWS NALP3 PYPAF1 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 ClinVar:NLRP3 Ensembl:ENSG00000162711 Genatlas:NLRP3 HGNC:16400 IUPHAR:1770 OMIM:606416 Reactome:Q96P20 SwissProt:Q96P20 NLRP3 NLR family pyrin domain containing 3 19q13.42 CLR19.4 NOD12 PAN7 PYPAF3 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 ClinVar:NLRP7 Ensembl:ENSG00000167634 Genatlas:NLRP7 HGNC:22947 IUPHAR:1774 OMIM:609661 SwissProt:Q8WX94 NLRP7 NLR family pyrin domain containing 7 16q12.1 BLAU CD CLR16.3 NLR family, CARD domain containing 2 NLRC2 NOD-like receptor C2 PSORAS1 nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2 ClinVar:NOD2 Ensembl:ENSG00000167207 Genatlas:NOD2 HGNC:5331 IUPHAR:1763 OMIM:605956 Reactome:Q9HC29 SwissProt:Q9HC29 NOD2 nucleotide binding oligomerization domain containing 2 17q22 ClinVar:NOG Ensembl:ENSG00000183691 Genatlas:NOG HGNC:7866 OMIM:602991 Reactome:Q13253 SwissProt:Q13253 NOG noggin 1p12 ClinVar:NOTCH2 Ensembl:ENSG00000134250 Genatlas:NOTCH2 HGNC:7882 IUPHAR:2859 OMIM:600275 Reactome:Q04721 SwissProt:Q04721 NOTCH2 notch receptor 2 19p13.12 CASIL ClinVar:NOTCH3 Ensembl:ENSG00000074181 Genatlas:NOTCH3 HGNC:7883 IUPHAR:2860 OMIM:600276 Reactome:Q9UM47 SwissProt:Q9UM47 NOTCH3 notch receptor 3 14q11.2 PUNP ClinVar:NP Ensembl:ENSG00000198805 Genatlas:NP HGNC:7892 IUPHAR:2841 OMIM:164050 Reactome:P00491 SwissProt:P00491 PNP purine nucleoside phosphorylase 18q11.2 SLC65A1 ClinVar:NPC1 Ensembl:ENSG00000141458 Genatlas:NPC1 HGNC:7897 IUPHAR:3051 OMIM:607623 Reactome:O15118 SwissProt:O15118 NPC1 NPC intracellular cholesterol transporter 1 14q24.3 EDDM1 HE1 NP-C2 epididymal protein 1 ClinVar:NPC2 Ensembl:ENSG00000119655 Genatlas:NPC2 HGNC:14537 OMIM:601015 Reactome:P61916 SwissProt:P61916 NPC2 NPC intracellular cholesterol transporter 2 2q13 JBTS4 SLSN1 ClinVar:NPHP1 Ensembl:ENSG00000144061 Genatlas:NPHP1 HGNC:7905 OMIM:607100 Reactome:O15259 SwissProt:O15259 NPHP1 nephrocystin 1 3q22.1 CFAP31 FLJ30691 FLJ36696 KIAA2000 MKS7 Meckel syndrome, type 7 NPH3 SLSN3 cilia and flagella associated protein 31 ClinVar:NPHP3 Ensembl:ENSG00000113971 Genatlas:NPHP3 HGNC:7907 OMIM:608002 Reactome:Q7Z494 SwissProt:Q7Z494 NPHP3 nephrocystin 3 1p36.31 KIAA0673 POC10 POC10 centriolar protein homolog (Chlamydomonas) SLSN4 nephroretinin ClinVar:NPHP4 Ensembl:ENSG00000131697 Genatlas:NPHP4 HGNC:19104 OMIM:607215 Reactome:O75161 SwissProt:O75161 NPHP4 nephrocystin 4 19q13.12 CNF NPHN ClinVar:NPHS1 Ensembl:ENSG00000161270 Genatlas:NPHS1 HGNC:7908 OMIM:602716 Reactome:O60500 SwissProt:O60500 NPHS1 NPHS1 adhesion molecule, nephrin 1q25.2 PDCN SRN1 ClinVar:NPHS2 Ensembl:ENSG00000116218 Genatlas:NPHS2 HGNC:13394 OMIM:604766 Reactome:Q9NP85 SwissProt:Q9NP85 NPHS2 NPHS2 stomatin family member, podocin 9p13.3 ANPb GC-B GUCY2B guanylate cyclase 2B guanylyl cyclase B ClinVar:NPR2 Ensembl:ENSG00000159899 Genatlas:NPR2 HGNC:7944 IUPHAR:1748 OMIM:108961 Reactome:P20594 SwissProt:P20594 NPR2 natriuretic peptide receptor 2 ICD-10:H47.2 OMIM:210000 UMLS:C0221061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1239 Behr syndrome ORPHA:1239 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:210000 E (Exact mapping: the two concepts are equivalent) UMLS:C0221061 E (Exact mapping: the two concepts are equivalent) Xp21.2 AHCH DAX1 ClinVar:NR0B1 Ensembl:ENSG00000169297 Genatlas:NR0B1 HGNC:7960 IUPHAR:635 OMIM:300473 Reactome:P51843 SwissProt:P51843 NR0B1 nuclear receptor subfamily 0 group B member 1 15q23 PNR RP37 rd7 ClinVar:NR2E3 Ensembl:ENSG00000278570 Genatlas:NR2E3 HGNC:7974 IUPHAR:616 OMIM:604485 Reactome:Q9Y5X4 SwissProt:Q9Y5X4 NR2E3 nuclear receptor subfamily 2 group E member 3 5q31.3 GR glucocorticoid receptor ClinVar:NR3C1 Ensembl:ENSG00000113580 Genatlas:NR3C1 HGNC:7978 IUPHAR:625 OMIM:138040 Reactome:P04150 SwissProt:P04150 NR3C1 nuclear receptor subfamily 3 group C member 1 4q31.23 MR ClinVar:NR3C2 Ensembl:ENSG00000151623 Genatlas:NR3C2 HGNC:7979 IUPHAR:626 OMIM:600983 Reactome:P08235 SwissProt:P08235 NR3C2 nuclear receptor subfamily 3 group C member 2 14q11.2-q12 D14S46E Maf-family bZIP transcription factor NRL NRL-MAF RP27 ClinVar:NRL Ensembl:ENSG00000129535 Genatlas:NRL HGNC:8002 OMIM:162080 SwissProt:P54845 NRL neural retina leucine zipper 19p13.3 NTN prepro-neurturin ClinVar:NRTN Ensembl:ENSG00000171119 Genatlas:NRTN HGNC:8007 OMIM:602018 Reactome:Q99748 SwissProt:Q99748 NRTN neurturin 5q35.3 ARA267 FLJ22263 KMT3B ClinVar:NSD1 Ensembl:ENSG00000165671 Genatlas:NSD1 HGNC:14234 IUPHAR:2696 OMIM:606681 Reactome:Q96L73 SwissProt:Q96L73 NSD1 nuclear receptor binding SET domain protein 1 Xq28 H105e3 SDR31E1 XAP104 short chain dehydrogenase/reductase family 31E, member 1 ClinVar:NSDHL Ensembl:ENSG00000147383 Genatlas:NSDHL HGNC:13398 OMIM:300275 Reactome:Q15738 SwissProt:Q15738 NSDHL NAD(P) dependent steroid dehydrogenase-like 7p14.3 P5'N-1 PN-I POMP PSN1 UMPH UMPH1 cN-III hUMP1 lupin p36 ClinVar:NT5C3A Ensembl:ENSG00000122643 Genatlas:NT5C3A HGNC:17820 IUPHAR:1237 OMIM:606224 Reactome:Q9H0P0 SwissProt:Q9H0P0 NT5C3A 5'-nucleotidase, cytosolic IIIA 1q23.1 MTC TRK TRKA high affinity nerve growth factor receptor tropomyosin receptor kinase A ClinVar:NTRK1 Ensembl:ENSG00000198400 Genatlas:NTRK1 HGNC:8031 IUPHAR:1817 OMIM:191315 Reactome:P04629 SwissProt:P04629 NTRK1 neurotrophic receptor tyrosine kinase 1 Xp11.4 CLRP CSNB1A ClinVar:NYX Ensembl:ENSG00000188937 Genatlas:NYX HGNC:8082 OMIM:300278 Reactome:Q9GZU5 SwissProt:Q9GZU5 NYX nyctalopin 10q26.13 HOGA Ornithine aminotransferase gyrate atrophy ornithine aminotransferase precursor ClinVar:OAT Ensembl:ENSG00000065154 Genatlas:OAT HGNC:8091 OMIM:613349 Reactome:P04181 SwissProt:P04181 OAT ornithine aminotransferase 15q12-q13.1 BEY BEY1 BEY2 EYCL P-protein melanocyte-specific transporter protein ClinVar:OCA2 Ensembl:ENSG00000104044 Genatlas:OCA2 HGNC:8101 OMIM:611409 Reactome:Q04671 SwissProt:Q04671 OCA2 OCA2 melanosomal transmembrane protein Xq26.1 Dent disease 2 Dent-2 OCRL1 ClinVar:OCRL Ensembl:ENSG00000122126 Genatlas:OCRL HGNC:8108 IUPHAR:1460 OMIM:300535 Reactome:Q01968 SwissProt:Q01968 OCRL OCRL inositol polyphosphate-5-phosphatase Xp22.2 71-7A JBTS10 Joubert syndrome type 10 ClinVar:OFD1 Ensembl:ENSG00000046651 Genatlas:OFD1 HGNC:2567 OMIM:300170 Reactome:O75665 SwissProt:O75665 OFD1 OFD1 centriole and centriolar satellite protein 3q29 Dynamin-like 120 kDa protein, mitochondrial FLJ12460 KIAA0567 MGM1 NPG NTG dynamin-like guanosine triphosphatase mitochondrial dynamin-like GTPase ClinVar:OPA1 Ensembl:ENSG00000198836 Genatlas:OPA1 HGNC:8140 OMIM:605290 Reactome:O60313 SwissProt:O60313 OPA1 OPA1 mitochondrial dynamin like GTPase Congenital PRCA Congenital pure red cell aplasia Diamond-Blackfan anemia syndrome Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Orphanet ICD-10:D61.0 ICD-11:3A60.1 MeSH:D029503 MedDRA:10062989 OMIM:105650 OMIM:300946 OMIM:606129 OMIM:606164 OMIM:610629 OMIM:612527 OMIM:612528 OMIM:612561 OMIM:612562 OMIM:612563 OMIM:613308 OMIM:613309 OMIM:614900 OMIM:615550 OMIM:615909 OMIM:617408 OMIM:617409 OMIM:618310 OMIM:618312 OMIM:618313 OMIM:620072 Autosomal dominant Childhood Infancy Neonatal China AND has_point_prevalence_average_value : 0.194 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=124 Diamond-Blackfan anemia ORPHA:124 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D029503 E (Exact mapping: the two concepts are equivalent) MedDRA:10062989 E (Exact mapping: the two concepts are equivalent) OMIM:105650 E (Exact mapping: the two concepts are equivalent) OMIM:300946 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606129 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606164 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610629 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612527 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612528 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612561 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612562 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612563 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613308 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613309 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615909 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617408 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617409 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618312 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618313 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620072 BTNT (ORPHAcode is broader than the targeted code used to represent it) Bellini syndrome Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acrodysostosis MeSH:C537350 OMIM:250215 UMLS:C1855243 Metaphyseal acroscyphodysplasia ORPHA:1240 MeSH:C537350 E (Exact mapping: the two concepts are equivalent) OMIM:250215 E (Exact mapping: the two concepts are equivalent) UMLS:C1855243 E (Exact mapping: the two concepts are equivalent) 19q13.32 3-methylglutaconic aciduria type III FLJ22187 MGA3 ClinVar:OPA3 Ensembl:ENSG00000125741 Genatlas:OPA3 HGNC:8142 OMIM:606580 SwissProt:Q9H6K4 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 Xq28 COD5 cone dystrophy 5 (X-linked) ClinVar:OPN1LW Ensembl:ENSG00000102076 Genatlas:OPN1LW HGNC:9936 IUPHAR:2961 OMIM:300822 Reactome:P04000 SwissProt:P04000 OPN1LW opsin 1, long wave sensitive Xq28 COD5 OPN1MW1 cone dystrophy 5 (X-linked) ClinVar:OPN1MW Ensembl:ENSG00000268221 Genatlas:OPN1MW HGNC:4206 IUPHAR:2962 OMIM:300821 Reactome:P04001 SwissProt:P04001 OPN1MW opsin 1, medium wave sensitive 7q32.1 BOP CBT blue-sensitive opsin color blindness, tritan ClinVar:OPN1SW Ensembl:ENSG00000128617 Genatlas:OPN1SW HGNC:1012 IUPHAR:2960 OMIM:613522 Reactome:P03999 SwissProt:P03999 OPN1SW opsin 1, short wave sensitive 10p13 FIP-2 FIP2 HIP7 HYPL NRP TFIIIA-INTP ClinVar:OPTN Ensembl:ENSG00000123240 Genatlas:OPTN HGNC:17142 OMIM:602432 Reactome:Q96CV9 SwissProt:Q96CV9 OPTN optineurin 6q21 CLCN7 accessory beta subunit GL HSPC019 grey-lethal ClinVar:OSTM1 Ensembl:ENSG00000081087 Genatlas:OSTM1 HGNC:21652 OMIM:607649 Reactome:Q86WC4 SwissProt:Q86WC4 OSTM1 osteoclastogenesis associated transmembrane protein 1 Xp11.4 OTC1 OTCD OTCase ornithine transcarbamylase deficiency ClinVar:OTC Ensembl:ENSG00000036473 Genatlas:OTC HGNC:8512 OMIM:300461 Reactome:P00480 SwissProt:P00480 OTC ornithine transcarbamylase 2p23.3 DFNB6 FER1L2 fer-1-like family member 2 ClinVar:OTOF Ensembl:ENSG00000115155 Genatlas:OTOF HGNC:8515 OMIM:603681 SwissProt:Q9HC10 OTOF otoferlin 14q22.3 ClinVar:OTX2 Ensembl:ENSG00000165588 Genatlas:OTX2 HGNC:8522 OMIM:600037 SwissProt:P32243 OTX2 orthodenticle homeobox 2 5p13.1 SCOT Succinyl-CoA:3-ketoacid-CoA transferase ClinVar:OXCT1 Ensembl:ENSG00000083720 Genatlas:OXCT1 HGNC:8527 OMIM:601424 Reactome:P55809 SwissProt:P55809 OXCT1 3-oxoacid CoA-transferase 1 3q25.1 HORK3 P2Y12 SP1999 ClinVar:P2RY12 Ensembl:ENSG00000169313 Genatlas:P2RY12 HGNC:18124 IUPHAR:328 OMIM:600515 Reactome:Q9H244 SwissProt:Q9H244 P2RY12 purinergic receptor P2Y12 14q11.2 PAB2 ClinVar:PABPN1 Ensembl:ENSG00000100836 Genatlas:PABPN1 HGNC:8565 OMIM:602279 Reactome:Q86U42 SwissProt:Q86U42 PABPN1 poly(A) binding protein nuclear 1 17p13.3 LIS1 NudF PAFAH lissencephaly-1 ClinVar:PAFAH1B1 Ensembl:ENSG00000007168 Genatlas:PAFAH1B1 HGNC:8574 OMIM:601545 Reactome:P43034 SwissProt:P43034 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 12q23.2 PH phenylalanine 4-monooxygenase ClinVar:PAH Ensembl:ENSG00000171759 Genatlas:PAH HGNC:8582 IUPHAR:1240 OMIM:612349 Reactome:P00439 SwissProt:P00439 PAH phenylalanine hydroxylase 20p13 FLJ11729 HARP HSS Hallervorden-Spatz syndrome PKAN pantothenate kinase-associated neurodegeneration ClinVar:PANK2 Ensembl:ENSG00000125779 Genatlas:PANK2 HGNC:15894 OMIM:606157 Reactome:Q9BZ23 SwissProt:Q9BZ23 PANK2 pantothenate kinase 2 10q23.2-q23.31 ATPSK2 PAPS synthase 2 adenosine 5'-phosphosulfate kinase adenylyl-sulfate kinase bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 sulfate adenylyltransferase ClinVar:PAPSS2 Ensembl:ENSG00000198682 Genatlas:PAPSS2 HGNC:8604 OMIM:603005 Reactome:O95340 SwissProt:O95340 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 6q26 AR-JP E3 ubiquitin ligase PARK2 PDJ parkin ClinVar:PARK2 Ensembl:ENSG00000185345 Genatlas:PARK2 HGNC:8607 OMIM:602544 Reactome:O60260 SwissProt:O60260 PRKN parkin RBR E3 ubiquitin protein ligase 1p36.23 DJ-1 DJ1 GATD2 ClinVar:PARK7 Ensembl:ENSG00000116288 Genatlas:PARK7 HGNC:16369 OMIM:602533 Reactome:Q99497 SwissProt:Q99497 PARK7 Parkinsonism associated deglycase 10q24.31 PAX-2 ClinVar:PAX2 Ensembl:ENSG00000075891 Genatlas:PAX2 HGNC:8616 OMIM:167409 SwissProt:Q02962 PAX2 paired box 2 2q36.1 HUP2 PAX-3 ClinVar:PAX3 Ensembl:ENSG00000135903 Genatlas:PAX3 HGNC:8617 OMIM:606597 Reactome:P23760 SwissProt:P23760 PAX3 paired box 3 11p13 AN Aniridia 1 Aniridia 2 D11S812E WAGR aniridia, keratitis ClinVar:PAX6 Ensembl:ENSG00000007372 Genatlas:PAX6 HGNC:8620 OMIM:607108 Reactome:P26367 SwissProt:P26367 PAX6 paired box 6 Hemifacial hyperplasia-strabismus syndrome Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Orphanet ICD-10:Q67.4 MeSH:C564199 OMIM:141350 UMLS:C1841640 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1241 Bencze syndrome ORPHA:1241 ICD-10:Q67.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564199 E (Exact mapping: the two concepts are equivalent) OMIM:141350 E (Exact mapping: the two concepts are equivalent) UMLS:C1841640 E (Exact mapping: the two concepts are equivalent) 1p36.13 Hup1 ClinVar:PAX7 Ensembl:ENSG00000009709 Genatlas:PAX7 HGNC:8621 OMIM:167410 SwissProt:P23759 PAX7 paired box 7 2q14.1 PAX-8 ClinVar:PAX8 Ensembl:ENSG00000125618 Genatlas:PAX8 HGNC:8622 OMIM:167415 Reactome:Q06710 SwissProt:Q06710 PAX8 paired box 8 14q13.3 ClinVar:PAX9 Ensembl:ENSG00000198807 Genatlas:PAX9 HGNC:8623 OMIM:167416 Reactome:P55771 SwissProt:P55771 PAX9 paired box 9 11q13.2 PCB ClinVar:PC Ensembl:ENSG00000173599 Genatlas:PC HGNC:8636 IUPHAR:1262 OMIM:608786 Reactome:P11498 SwissProt:P11498 PC pyruvate carboxylase 10q22.1 PCD Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha) dimerizing cofactor for HNF1 pterin-4-alpha carbinolamine dehydratase ClinVar:PCBD1 Ensembl:ENSG00000166228 Genatlas:PCBD1 HGNC:8646 OMIM:126090 Reactome:P61457 SwissProt:P61457 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 13q32.3 ClinVar:PCCA Ensembl:ENSG00000175198 Genatlas:PCCA HGNC:8653 IUPHAR:1266 OMIM:232000 Reactome:P05165 SwissProt:P05165 PCCA propionyl-CoA carboxylase subunit alpha 3q22.3 ClinVar:PCCB Ensembl:ENSG00000114054 Genatlas:PCCB HGNC:8654 IUPHAR:1267 OMIM:232050 Reactome:P05166 SwissProt:P05166 PCCB propionyl-CoA carboxylase subunit beta 10q21.1 CDHR15 cadherin-related family member 15 ClinVar:PCDH15 Ensembl:ENSG00000150275 Genatlas:PCDH15 HGNC:14674 OMIM:605514 SwissProt:Q96QU1 PCDH15 protocadherin related 15 20q13.31 PEPCK-C ClinVar:PCK1 Ensembl:ENSG00000124253 Genatlas:PCK1 HGNC:8724 OMIM:614168 Reactome:P35558 SwissProt:P35558 PCK1 phosphoenolpyruvate carboxykinase 1 14q11.2-q12 PEPCK PEPCK2 ClinVar:PCK2 Ensembl:ENSG00000100889 Genatlas:PCK2 HGNC:8725 OMIM:614095 Reactome:Q16822 SwissProt:Q16822 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial 8p22 PTC4 ClinVar:PCM1 Ensembl:ENSG00000078674 Genatlas:PCM1 HGNC:8727 OMIM:600299 Reactome:Q15154 SwissProt:Q15154 PCM1 pericentriolar material 1 5q15 PC1 PC1/3 PC3 SPC3 neuroendocrine convertase 1 prohormone convertase 1 prohormone convertase 3 proprotein convertase 1 proprotein convertase 1/3 ClinVar:PCSK1 Ensembl:ENSG00000175426 Genatlas:PCSK1 HGNC:8743 IUPHAR:2382 OMIM:162150 Reactome:P29120 SwissProt:P29120 PCSK1 proprotein convertase subtilisin/kexin type 1 1p32.3 FH3 NARC-1 ClinVar:PCSK9 Ensembl:ENSG00000169174 Genatlas:PCSK9 HGNC:20001 IUPHAR:2388 OMIM:607786 Reactome:Q8NBP7 SwissProt:Q8NBP7 PCSK9 proprotein convertase subtilisin/kexin type 9 3q26.1 TFAR15 ClinVar:PDCD10 Ensembl:ENSG00000114209 Genatlas:PDCD10 HGNC:8761 OMIM:609118 Reactome:Q9BUL8 SwissProt:Q9BUL8 PDCD10 programmed cell death 10 5q32 RP43 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha retinitis pigmentosa type 43 ClinVar:PDE6A Ensembl:ENSG00000132915 Genatlas:PDE6A HGNC:8785 IUPHAR:1312 OMIM:180071 Reactome:P16499 SwissProt:P16499 PDE6A phosphodiesterase 6A 4p16.3 CSNB3 CSNBAD2 RP40 congenital stationary night blindness 3, autosomal dominant rd1 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta ClinVar:PDE6B Ensembl:ENSG00000133256 Genatlas:PDE6B HGNC:8786 IUPHAR:1313 OMIM:180072 Reactome:P35913 SwissProt:P35913 PDE6B phosphodiesterase 6B 4q12 CD140a GAS9 PDGFR2 ClinVar:PDGFRA Ensembl:ENSG00000134853 Genatlas:PDGFRA HGNC:8803 IUPHAR:1803 OMIM:173490 Reactome:P16234 SwissProt:P16234 PDGFRA platelet derived growth factor receptor alpha Xp22.12 E1alpha pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial ClinVar:PDHA1 Ensembl:ENSG00000131828 Genatlas:PDHA1 HGNC:8806 OMIM:300502 Reactome:P08559 SwissProt:P08559 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 3p14.3 E1beta PDHE1B ClinVar:PDHB Ensembl:ENSG00000168291 Genatlas:PDHB HGNC:8808 OMIM:179060 Reactome:P11177 SwissProt:P11177 PDHB pyruvate dehydrogenase E1 subunit beta 11p13 DLDBP E3BP OPDX PDX1 proX ClinVar:PDHX Ensembl:ENSG00000110435 Genatlas:PDHX HGNC:21350 OMIM:608769 Reactome:O00330 SwissProt:O00330 PDHX pyruvate dehydrogenase complex component X 13q12.2 GSF Glucose-sensitive factor IDX-1 IUF-1 Islet/duodenum homeobox-1 MODY4 PDX-1 STF-1 insulin upstream factor 1 somatostatin transcription factor 1 ClinVar:PDX1 Ensembl:ENSG00000139515 Genatlas:PDX1 HGNC:6107 OMIM:600733 Reactome:P52945 SwissProt:P52945 PDX1 pancreatic and duodenal homeobox 1 19q13.11 Xaa-Pro dipeptidase imidodipeptidase prolidase ClinVar:PEPD Ensembl:ENSG00000124299 Genatlas:PEPD HGNC:8840 IUPHAR:2389 OMIM:613230 SwissProt:P12955 PEPD peptidase D 7q21.2 ClinVar:PEX1 Ensembl:ENSG00000127980 Genatlas:PEX1 HGNC:8850 OMIM:602136 SwissProt:O43933 PEX1 peroxisomal biogenesis factor 1 1p36.32 RNF69 ClinVar:PEX10 Ensembl:ENSG00000157911 Genatlas:PEX10 HGNC:8851 OMIM:602859 Reactome:O60683 SwissProt:O60683 PEX10 peroxisomal biogenesis factor 10 17q12 ClinVar:PEX12 Ensembl:ENSG00000108733 Genatlas:PEX12 HGNC:8854 OMIM:601758 Reactome:O00623 SwissProt:O00623 PEX12 peroxisomal biogenesis factor 12 2p15 ClinVar:PEX13 Ensembl:ENSG00000162928 Genatlas:PEX13 HGNC:8855 OMIM:601789 Reactome:Q92968 SwissProt:Q92968 PEX13 peroxisomal biogenesis factor 13 1p36.22 ClinVar:PEX14 Ensembl:ENSG00000142655 Genatlas:PEX14 HGNC:8856 OMIM:601791 Reactome:O75381 SwissProt:O75381 PEX14 peroxisomal biogenesis factor 14 11p11.2 ClinVar:PEX16 Ensembl:ENSG00000121680 Genatlas:PEX16 HGNC:8857 OMIM:603360 Reactome:Q9Y5Y5 SwissProt:Q9Y5Y5 PEX16 peroxisomal biogenesis factor 16 1q23.2 D1S2223E HK33 PMP1 PMPI PXMP1 housekeeping gene, 33kD ClinVar:PEX19 Ensembl:ENSG00000162735 Genatlas:PEX19 HGNC:9713 OMIM:600279 Reactome:P40855 SwissProt:P40855 PEX19 peroxisomal biogenesis factor 19 22q11.21 FLJ20695 ClinVar:PEX26 Ensembl:ENSG00000215193 Genatlas:PEX26 HGNC:22965 OMIM:608666 Reactome:Q7Z412 SwissProt:Q7Z412 PEX26 peroxisomal biogenesis factor 26 6q24.2 ClinVar:PEX3 Ensembl:ENSG00000034693 Genatlas:PEX3 HGNC:8858 OMIM:603164 Reactome:P56589 SwissProt:P56589 PEX3 peroxisomal biogenesis factor 3 12p13.31 PTS1R peroxisomal import receptor 5 peroxisomal targeting signal 1 receptor ClinVar:PEX5 Ensembl:ENSG00000139197 Genatlas:PEX5 HGNC:9719 OMIM:600414 Reactome:P50542 SwissProt:P50542 PEX5 peroxisomal biogenesis factor 5 6p21.1 PAF-2 PXAAA1 ClinVar:PEX6 Ensembl:ENSG00000124587 Genatlas:PEX6 HGNC:8859 OMIM:601498 SwissProt:Q13608 PEX6 peroxisomal biogenesis factor 6 6q23.3 PTS2R RD Refsum disease ClinVar:PEX7 Ensembl:ENSG00000112357 Genatlas:PEX7 HGNC:8860 OMIM:601757 SwissProt:O00628 PEX7 peroxisomal biogenesis factor 7 12q13.11 PFK-1 PPP1R122 protein phosphatase 1, regulatory subunit 122 ClinVar:PFKM Ensembl:ENSG00000152556 Genatlas:PFKM HGNC:8877 OMIM:610681 Reactome:P08237 SwissProt:P08237 PFKM phosphofructokinase, muscle Xq21.1 ClinVar:PGK1 Ensembl:ENSG00000102144 Genatlas:PGK1 HGNC:8896 OMIM:311800 Reactome:P00558 SwissProt:P00558 PGK1 phosphoglycerate kinase 1 1p31.3 ClinVar:PGM1 Ensembl:ENSG00000079739 Genatlas:PGM1 HGNC:8905 OMIM:171900 Reactome:P36871 SwissProt:P36871 PGM1 phosphoglucomutase 1 Xp22.11 HPDR1 HYP1 PEX PHEX peptidase Phosphate-regulating neutral endopeptidase XLH ClinVar:PHEX Ensembl:ENSG00000102174 Genatlas:PHEX HGNC:8918 OMIM:300550 SwissProt:P78562 PHEX phosphate regulating endopeptidase X-linked BMD BVMD Best disease Best macular dystrophy Early-onset vitelliform macular dystrophy Juvenile-onset vitelliform macular dystrophy Polymorphic vitelline macular degeneration Vitelliform macular dystrophy type 2 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Orphanet ICD-10:H35.5 ICD-11:9B70 OMIM:153700 UMLS:C0339510 Autosomal dominant Adolescent Childhood Denmark AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1243 Best vitelliform macular dystrophy ORPHA:1243 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:153700 E (Exact mapping: the two concepts are equivalent) UMLS:C0339510 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Bicuspid aortic valve ORPHA:1244 Amish brittle hair syndrome Trichothiodystrophy type D This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy OMIM:234050 UMLS:C3495483 BIDS syndrome ORPHA:1245 OMIM:234050 E (Exact mapping: the two concepts are equivalent) UMLS:C3495483 E (Exact mapping: the two concepts are equivalent) Biemond syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934. Orphanet ICD-10:Q87.8 OMIM:113400 UMLS:C0344467 Unknown Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:113400 E (Exact mapping: the two concepts are equivalent) UMLS:C0344467 E (Exact mapping: the two concepts are equivalent) Bilharziasis A rare parasitic disease characterized by infection with trematodes of the genus <i>Schistosoma</i>. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others. Orphanet ICD-10:B65.0 ICD-10:B65.1 ICD-10:B65.2 ICD-10:B65.3 ICD-10:B65.8 ICD-10:B65.9 ICD-11:1F86 ICD-11:1F86.0 ICD-11:1F86.1 ICD-11:1F86.2 ICD-11:1F86.3 MeSH:D012552 MedDRA:10039603 OMIM:181460 UMLS:C0036323 Not applicable All ages Africa AND has_point_prevalence_range : >1 / 1000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1247 Schistosomiasis ORPHA:1247 ICD-10:B65.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012552 E (Exact mapping: the two concepts are equivalent) MedDRA:10039603 E (Exact mapping: the two concepts are equivalent) OMIM:181460 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0036323 E (Exact mapping: the two concepts are equivalent) Binder syndrome Maxillonasal dysostosis A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex. Orphanet ICD-10:Q75.8 ICD-11:LD2H.Y MeSH:C536036 MedDRA:10075843 OMIM:155050 UMLS:C0220692 Autosomal dominant Autosomal recessive Multigenic/multifactorial Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1248 Maxillonasal dysplasia ORPHA:1248 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536036 E (Exact mapping: the two concepts are equivalent) MedDRA:10075843 E (Exact mapping: the two concepts are equivalent) OMIM:155050 E (Exact mapping: the two concepts are equivalent) UMLS:C0220692 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cerebrovascular dementia OBSOLETE: Binswanger disease ORPHA:1249 BSyn Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems. Orphanet ICD-10:Q87.1 ICD-11:4A01.31 MeSH:D001816 MedDRA:10073032 OMIM:210900 UMLS:C0005859 Autosomal recessive Antenatal Neonatal Specific population AND has_birth_prevalence_average_value : 2.08 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=125 Bloom syndrome ORPHA:125 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D001816 E (Exact mapping: the two concepts are equivalent) MedDRA:10073032 E (Exact mapping: the two concepts are equivalent) OMIM:210900 E (Exact mapping: the two concepts are equivalent) UMLS:C0005859 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Blaichman syndrome ORPHA:1250 Richieri Costa-Guion Almeida-Rodini syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schilbach-Rott syndrome Blepharofacioskeletal syndrome ORPHA:1251 Pashayan syndrome Pashayan-Pruzansky syndrome Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Orphanet ICD-10:Q87.0 MeSH:C536303 OMIM:110050 UMLS:C0796197 Autosomal dominant X-linked dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1252 Blepharonasofacial malformation syndrome ORPHA:1252 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536303 E (Exact mapping: the two concepts are equivalent) OMIM:110050 E (Exact mapping: the two concepts are equivalent) UMLS:C0796197 E (Exact mapping: the two concepts are equivalent) Blepharochalasis-double lip syndrome A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. Orphanet ICD-10:Q87.0 ICD-11:LD27.Y MeSH:C562742 OMIM:109900 UMLS:C0339085 Not applicable Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1253 Ascher syndrome ORPHA:1253 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562742 E (Exact mapping: the two concepts are equivalent) OMIM:109900 E (Exact mapping: the two concepts are equivalent) UMLS:C0339085 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Jorgenson-Lenz syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with synostosis or other joint formation defect OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome ORPHA:1256 OBSOLETE: Rodini-Richieri Costa syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome ORPHA:1258 A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q15.8 ICD-11:LA14.0Y MeSH:C536236 OMIM:110150 UMLS:C4303549 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1259 Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536236 E (Exact mapping: the two concepts are equivalent) OMIM:110150 E (Exact mapping: the two concepts are equivalent) UMLS:C4303549 E (Exact mapping: the two concepts are equivalent) BPES A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). Orphanet ICD-10:Q10.3 ICD-11:LD21.Y MeSH:C562419 MedDRA:10081258 OMIM:110100 UMLS:C0220663 Autosomal dominant Not applicable Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=126 Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562419 E (Exact mapping: the two concepts are equivalent) MedDRA:10081258 E (Exact mapping: the two concepts are equivalent) OMIM:110100 E (Exact mapping: the two concepts are equivalent) UMLS:C0220663 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial sick sinus syndrome OBSOLETE: Sino-auricular heart block ORPHA:1260 Encephalopathy-intracerebral calcification-retinal degeneration syndrome Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q04.8 OMIM:225755 UMLS:C4518560 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1261 Bonnemann-Meinecke-Reich syndrome ORPHA:1261 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:225755 E (Exact mapping: the two concepts are equivalent) UMLS:C4518560 E (Exact mapping: the two concepts are equivalent) A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C562993 OMIM:112300 UMLS:C0457014 Autosomal dominant Adult Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1262 Böök syndrome ORPHA:1262 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562993 E (Exact mapping: the two concepts are equivalent) OMIM:112300 E (Exact mapping: the two concepts are equivalent) UMLS:C0457014 E (Exact mapping: the two concepts are equivalent) Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. Orphanet ICD-10:Q87.1 ICD-11:LD24.E MeSH:C536573 OMIM:112310 UMLS:C0432201 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1263 Boomerang dysplasia ORPHA:1263 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536573 E (Exact mapping: the two concepts are equivalent) OMIM:112310 E (Exact mapping: the two concepts are equivalent) UMLS:C0432201 E (Exact mapping: the two concepts are equivalent) Bork syndrome Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C536576 OMIM:191482 UMLS:C1860605 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1264 Tricho-retino-dento-digital syndrome ORPHA:1264 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536576 E (Exact mapping: the two concepts are equivalent) OMIM:191482 E (Exact mapping: the two concepts are equivalent) UMLS:C1860605 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Frank-Ter Haar syndrome Dermato-cardio-skeletal syndrome, Borrone type ORPHA:1266 Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition. Orphanet ICD-10:A05.1 ICD-11:1A11 MeSH:D001906 MedDRA:10006041 UMLS:C0006057 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.255 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.086 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1267 Botulism ORPHA:1267 ICD-10:A05.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001906 E (Exact mapping: the two concepts are equivalent) MedDRA:10006041 E (Exact mapping: the two concepts are equivalent) UMLS:C0006057 E (Exact mapping: the two concepts are equivalent) BFLS Intellectual disability-epilepsy-endocrine disorders syndrome Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. Orphanet ICD-10:Q87.8 ICD-11:LD29 MeSH:C536575 OMIM:301900 UMLS:C0265339 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=127 Borjeson-Forssman-Lehmann syndrome ORPHA:127 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD29 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536575 E (Exact mapping: the two concepts are equivalent) OMIM:301900 E (Exact mapping: the two concepts are equivalent) UMLS:C0265339 E (Exact mapping: the two concepts are equivalent) Bowen syndrome, Hutterite type A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet. Orphanet ICD-10:Q87.8 ICD-11:LD20.2 MeSH:C537081 OMIM:211180 UMLS:C1859405 Autosomal recessive Antenatal Neonatal Specific population AND has_birth_prevalence_average_value : 281.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1270 Bowen-Conradi syndrome ORPHA:1270 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537081 E (Exact mapping: the two concepts are equivalent) OMIM:211180 E (Exact mapping: the two concepts are equivalent) UMLS:C1859405 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Zellweger syndrome OMIM:211200 UMLS:C1859404 Bowen syndrome ORPHA:1271 OMIM:211200 E (Exact mapping: the two concepts are equivalent) UMLS:C1859404 E (Exact mapping: the two concepts are equivalent) Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Fine-Lubinsky syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Orphanet ICD-10:Q87.8 MeSH:C537933 OMIM:601088 UMLS:C0795941 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1272 Aymé-Gripp syndrome ORPHA:1272 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537933 E (Exact mapping: the two concepts are equivalent) OMIM:601088 E (Exact mapping: the two concepts are equivalent) UMLS:C0795941 E (Exact mapping: the two concepts are equivalent) Brachydactyly-joint dysplasia syndrome Liebenberg syndrome Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C566090 OMIM:186550 UMLS:C1861313 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1275 Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566090 E (Exact mapping: the two concepts are equivalent) OMIM:186550 E (Exact mapping: the two concepts are equivalent) UMLS:C1861313 E (Exact mapping: the two concepts are equivalent) Bilginturan brachydactyly Bilginturan syndrome Brachydactyly type E, with short stature and hypertension A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Orphanet ICD-10:Q73.8 ICD-11:LD24.8Y MeSH:C537095 OMIM:112410 UMLS:C1862170 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1276 Brachydactyly-arterial hypertension syndrome ORPHA:1276 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537095 E (Exact mapping: the two concepts are equivalent) OMIM:112410 E (Exact mapping: the two concepts are equivalent) UMLS:C1862170 E (Exact mapping: the two concepts are equivalent) Stratton-Garcia-Young syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Orphanet ICD-10:Q87.8 UMLS:C4707567 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome ORPHA:1277 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707567 E (Exact mapping: the two concepts are equivalent) A rare dysostosis with brachydactyly with exstraskeletal manifestations characterized by hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q73.8 OMIM:112450 UMLS:C4518542 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1278 Brachydactyly-preaxial hallux varus syndrome ORPHA:1278 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:112450 E (Exact mapping: the two concepts are equivalent) UMLS:C4518542 E (Exact mapping: the two concepts are equivalent) Bothriocephalosis Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). Orphanet ICD-10:B70.0 ICD-11:1F71 MeSH:D004169 MedDRA:10013029 UMLS:C0012561 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.88 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=128 Diphyllobothriasis ORPHA:128 ICD-10:B70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004169 E (Exact mapping: the two concepts are equivalent) MedDRA:10013029 E (Exact mapping: the two concepts are equivalent) UMLS:C0012561 E (Exact mapping: the two concepts are equivalent) Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. Orphanet ICD-10:L66.0 ICD-11:ED70.5Y UMLS:C0086873 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=129 Pseudopelade of Brocq ORPHA:129 ICD-10:L66.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED70.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0086873 E (Exact mapping: the two concepts are equivalent) BOD syndrome Senior syndrome A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Orphanet ICD-10:Q87.1 MeSH:C536242 OMIM:113477 UMLS:C1862082 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1292 Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536242 E (Exact mapping: the two concepts are equivalent) OMIM:113477 E (Exact mapping: the two concepts are equivalent) UMLS:C1862082 E (Exact mapping: the two concepts are equivalent) Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. Orphanet MeSH:C537098 MedDRA:10081832 UMLS:C0432228 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1293 Brachyolmia Clinical group ORPHA:1293 MeSH:C537098 E (Exact mapping: the two concepts are equivalent) MedDRA:10081832 E (Exact mapping: the two concepts are equivalent) UMLS:C0432228 E (Exact mapping: the two concepts are equivalent) A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q87.0 OMIM:113480 UMLS:C5680625 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1295 Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:113480 E (Exact mapping: the two concepts are equivalent) UMLS:C5680625 E (Exact mapping: the two concepts are equivalent) Branchial dysplasia-intellectual disability-inguinal hernia syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.8 MeSH:C538396 OMIM:245550 UMLS:C1855551 Unknown Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1296 Lambert syndrome ORPHA:1296 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538396 E (Exact mapping: the two concepts are equivalent) OMIM:245550 E (Exact mapping: the two concepts are equivalent) UMLS:C1855551 E (Exact mapping: the two concepts are equivalent) BOFS A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present. Orphanet ICD-10:Q18.8 ICD-11:LD2F.1Y OMIM:113620 UMLS:C0376524 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1297 Branchio-oculo-facial syndrome ORPHA:1297 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:113620 E (Exact mapping: the two concepts are equivalent) UMLS:C0376524 E (Exact mapping: the two concepts are equivalent) BSG syndrome Elsahy-Waters syndrome Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537084 OMIM:211380 UMLS:C0809936 Autosomal recessive X-linked dominant Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1299 Branchioskeletogenital syndrome ORPHA:1299 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537084 E (Exact mapping: the two concepts are equivalent) OMIM:211380 E (Exact mapping: the two concepts are equivalent) UMLS:C0809936 E (Exact mapping: the two concepts are equivalent) Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Orphanet ICD-10:E70.1 ICD-11:5C59.01 MeSH:C535325 OMIM:261640 UMLS:C0878676 Autosomal recessive Infancy Neonatal Brazil AND has_birth_prevalence_average_value : 0.0854 AND has_birth_prevalence_range : <1 / 1 000 000 China AND has_birth_prevalence_average_value : 0.3094 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_range : <1 / 1 000 000 Hong Kong AND has_birth_prevalence_average_value : 2.5258 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=13 6-pyruvoyl-tetrahydropterin synthase deficiency Clinical subtype ORPHA:13 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535325 E (Exact mapping: the two concepts are equivalent) OMIM:261640 E (Exact mapping: the two concepts are equivalent) UMLS:C0878676 E (Exact mapping: the two concepts are equivalent) Idiopathic ventricular fibrillation, Brugada type A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities. Orphanet ICD-10:I49.8 ICD-11:BC65.1 MeSH:D053840 MedDRA:10059027 OMIM:601144 OMIM:611777 OMIM:611875 OMIM:611876 OMIM:612838 OMIM:613119 OMIM:613120 OMIM:613123 OMIM:616399 UMLS:C1142166 Autosomal dominant Not applicable Adult Childhood Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 South East Asia AND has_point_prevalence_average_value : 75.0 AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=130 Brugada syndrome ORPHA:130 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:BC65.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D053840 E (Exact mapping: the two concepts are equivalent) MedDRA:10059027 E (Exact mapping: the two concepts are equivalent) OMIM:601144 E (Exact mapping: the two concepts are equivalent) OMIM:611777 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611875 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611876 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612838 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613119 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613123 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616399 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1142166 E (Exact mapping: the two concepts are equivalent) Facio-genito-popliteal syndrome Popliteal web syndrome A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Orphanet ICD-10:Q87.2 ICD-11:LD26.4Y OMIM:119500 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1300 Autosomal dominant popliteal pterygium syndrome ORPHA:1300 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:119500 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Young syndrome Bronchiectasis-oligospermia syndrome ORPHA:1301 BOOP Bronchiolitis obliterans organizing pneumonia COP A rare form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with nonspecific flu-like symptoms, as well as cough and dyspnea, and where no etiological agent is found. Orphanet ICD-10:J84.1 ICD-11:CB03.2 MeSH:D018549 MedDRA:10011496 UMLS:C0242770 Not applicable Adolescent Adult Childhood Elderly Greece AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 0.81 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1302 Cryptogenic organizing pneumonia ORPHA:1302 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB03.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018549 E (Exact mapping: the two concepts are equivalent) MedDRA:10011496 E (Exact mapping: the two concepts are equivalent) UMLS:C0242770 E (Exact mapping: the two concepts are equivalent) Constrictive bronchiolitis Obliterative bronchiolitis A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. Orphanet ICD-10:J44.8 ICD-11:CA26.0 MedDRA:10029888 UMLS:C5575762 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1303 Bronchiolitis obliterans Clinical group ORPHA:1303 ICD-10:J44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA26.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10029888 E (Exact mapping: the two concepts are equivalent) UMLS:C5575762 E (Exact mapping: the two concepts are equivalent) Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus <i>Brucella</i> transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis. Orphanet ICD-10:A23.0 ICD-10:A23.1 ICD-10:A23.2 ICD-10:A23.3 ICD-10:A23.8 ICD-10:A23.9 ICD-11:1B95 MeSH:D002006 MedDRA:10006500 UMLS:C0006309 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Greece AND has_annual_incidence_average_value : 1.13 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1304 Brucellosis ORPHA:1304 ICD-10:A23.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B95 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002006 E (Exact mapping: the two concepts are equivalent) MedDRA:10006500 E (Exact mapping: the two concepts are equivalent) UMLS:C0006309 E (Exact mapping: the two concepts are equivalent) Brunner-Winter syndrome Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum FGLDS FS MMT MODED syndrome Microcephaly-digital anomalies-normal intelligence syndrome Microcephaly-intellectual disability-tracheoesophageal fistula syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome ODED syndrome Oculo-digito-esophageal-duodenal syndrome A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537734 OMIM:164280 OMIM:614326 UMLS:C0796068 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 123.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1305 Feingold syndrome ORPHA:1305 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537734 E (Exact mapping: the two concepts are equivalent) OMIM:164280 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614326 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796068 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Disseminated dermatofibrosis with osteopoikilosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Buschke-Ollendorff syndrome ORPHA:1306 10q24 microduplication syndrome Buttiens-Fryns syndrome The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Orphanet ICD-10:Q92.3 ICD-11:LD41.90 OMIM:246560 UMLS:C4302673 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1307 Distal limb deficiencies-micrognathia syndrome ORPHA:1307 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:246560 E (Exact mapping: the two concepts are equivalent) UMLS:C4302673 E (Exact mapping: the two concepts are equivalent) OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome Trigonocephaly C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD24.GY MeSH:C537418 MedDRA:10083975 OMIM:211750 UMLS:C0796095 Not applicable Unknown Antenatal Neonatal Europe AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1308 C syndrome ORPHA:1308 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537418 E (Exact mapping: the two concepts are equivalent) MedDRA:10083975 E (Exact mapping: the two concepts are equivalent) OMIM:211750 E (Exact mapping: the two concepts are equivalent) UMLS:C0796095 E (Exact mapping: the two concepts are equivalent) Cacchi-Ricci disease MSK Precalicial canalicular ectasia A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions. Orphanet ICD-10:Q61.5 ICD-11:LB30.8 MeSH:D007691 MedDRA:10027104 UMLS:C0022681 Autosomal dominant Not applicable Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1309 Medullary sponge kidney ORPHA:1309 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB30.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007691 E (Exact mapping: the two concepts are equivalent) MedDRA:10027104 E (Exact mapping: the two concepts are equivalent) UMLS:C0022681 E (Exact mapping: the two concepts are equivalent) BCS A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Orphanet ICD-10:I82.0 ICD-11:DB98.5 MeSH:D006502 MedDRA:10006537 OMIM:600880 UMLS:C0856761 Multigenic/multifactorial All ages Denmark AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.529 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=131 Budd-Chiari syndrome ORPHA:131 ICD-10:I82.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB98.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006502 E (Exact mapping: the two concepts are equivalent) MedDRA:10006537 E (Exact mapping: the two concepts are equivalent) OMIM:600880 E (Exact mapping: the two concepts are equivalent) UMLS:C0856761 E (Exact mapping: the two concepts are equivalent) Infantile cortical hyperostosis Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. Orphanet ICD-10:M89.8 ICD-11:LD24.1Y MeSH:D006958 MedDRA:10073206 OMIM:114000 UMLS:C0020497 Autosomal dominant Unknown Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1310 Caffey disease ORPHA:1310 ICD-10:M89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006958 E (Exact mapping: the two concepts are equivalent) MedDRA:10073206 E (Exact mapping: the two concepts are equivalent) OMIM:114000 E (Exact mapping: the two concepts are equivalent) UMLS:C0020497 E (Exact mapping: the two concepts are equivalent) A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:G93.8 MeSH:C535357 OMIM:215480 UMLS:C1859092 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1313 Infantile choroidocerebral calcification syndrome ORPHA:1313 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535357 E (Exact mapping: the two concepts are equivalent) OMIM:215480 E (Exact mapping: the two concepts are equivalent) UMLS:C1859092 E (Exact mapping: the two concepts are equivalent) Bilateral symmetrical thalamic gliosis Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. Orphanet ICD-10:G93.8 UMLS:C4304914 Not applicable Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1314 Symmetrical thalamic calcifications ORPHA:1314 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304914 E (Exact mapping: the two concepts are equivalent) CAMAK syndrome Cataract-microcephaly-arthrogryposis-kyphosis syndrome Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to COFS syndrome OMIM:212540 UMLS:C1859312 CAMFAK syndrome ORPHA:1317 OMIM:212540 E (Exact mapping: the two concepts are equivalent) UMLS:C1859312 E (Exact mapping: the two concepts are equivalent) Cumming syndrome Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD24.C MeSH:C537966 OMIM:211890 UMLS:C1859371 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1318 Campomelia, Cumming type ORPHA:1318 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537966 E (Exact mapping: the two concepts are equivalent) OMIM:211890 E (Exact mapping: the two concepts are equivalent) UMLS:C1859371 E (Exact mapping: the two concepts are equivalent) Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Orphanet ICD-10:Q74.8 MeSH:C537967 OMIM:114150 UMLS:C1861963 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1319 Camptobrachydactyly ORPHA:1319 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537967 E (Exact mapping: the two concepts are equivalent) OMIM:114150 E (Exact mapping: the two concepts are equivalent) UMLS:C1861963 E (Exact mapping: the two concepts are equivalent) Hereditary pseudocholinesterase deficiency Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. Orphanet ICD-10:E88.0 ICD-11:5C59.Y MeSH:C537417 MedDRA:10062674 OMIM:617936 UMLS:C1283400 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=132 Hereditary butyrylcholinesterase deficiency ORPHA:132 ICD-10:E88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5C59.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537417 E (Exact mapping: the two concepts are equivalent) MedDRA:10062674 E (Exact mapping: the two concepts are equivalent) OMIM:617936 E (Exact mapping: the two concepts are equivalent) UMLS:C1283400 E (Exact mapping: the two concepts are equivalent) Idiopathic camptocormism Idiopathic progressive lumbar kyphosis Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology. Orphanet ICD-10:M43.8 MeSH:C537968 MedDRA:10069646 UMLS:C0264162 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1320 Idiopathic camptocormia ORPHA:1320 ICD-10:M43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537968 E (Exact mapping: the two concepts are equivalent) MedDRA:10069646 E (Exact mapping: the two concepts are equivalent) UMLS:C0264162 E (Exact mapping: the two concepts are equivalent) Goodman camptodactyly An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Orphanet ICD-10:Q87.2 MeSH:C537287 OMIM:211930 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537287 E (Exact mapping: the two concepts are equivalent) OMIM:211930 E (Exact mapping: the two concepts are equivalent) 10q26.13 CD332 CEK3 Crouzon syndrome ECT1 K-SAM Pfeiffer syndrome TK14 TK25 ClinVar:FGFR2 Ensembl:ENSG00000066468 Genatlas:FGFR2 HGNC:3689 IUPHAR:1809 OMIM:176943 Reactome:P21802 SwissProt:P21802 FGFR2 fibroblast growth factor receptor 2 2q14.3 BTF2 GTF2H RAD25 Ssl2 TFIIH XPB xeroderma pigmentosum group B complementing ClinVar:ERCC3 Ensembl:ENSG00000163161 Genatlas:ERCC3 HGNC:3435 OMIM:133510 Reactome:P19447 SwissProt:P19447 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit 13q33.1 Cockayne syndrome ClinVar:ERCC5 Ensembl:ENSG00000134899 Genatlas:ERCC5 HGNC:3437 OMIM:133530 Reactome:P28715 SwissProt:P28715 ERCC5 ERCC excision repair 5, endonuclease Xq12 AIS HUMARA Kennedy disease NR3C4 SMAX1 testicular feminization ClinVar:AR Ensembl:ENSG00000169083 Genatlas:AR HGNC:644 IUPHAR:628 OMIM:313700 Reactome:P10275 SwissProt:P10275 AR androgen receptor Rozin camptodactyly syndrome A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Orphanet ICD-10:Q87.0 MeSH:C535876 OMIM:602612 UMLS:C2931051 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1323 Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535876 E (Exact mapping: the two concepts are equivalent) OMIM:602612 E (Exact mapping: the two concepts are equivalent) UMLS:C2931051 E (Exact mapping: the two concepts are equivalent) Familial streblodactyly with amino-aciduria Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Orphanet ICD-10:Q68.1 MeSH:C537972 UMLS:C4518792 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1325 Camptodactyly-taurinuria syndrome ORPHA:1325 ICD-10:Q68.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537972 E (Exact mapping: the two concepts are equivalent) UMLS:C4518792 E (Exact mapping: the two concepts are equivalent) Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.1 MeSH:C537971 OMIM:211920 UMLS:C2931680 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1326 Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537971 E (Exact mapping: the two concepts are equivalent) OMIM:211920 E (Exact mapping: the two concepts are equivalent) UMLS:C2931680 E (Exact mapping: the two concepts are equivalent) Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Orphanet ICD-10:Q87.1 MeSH:C537970 OMIM:211910 UMLS:C1859359 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1327 Camptodactyly syndrome, Guadalajara type 1 ORPHA:1327 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537970 E (Exact mapping: the two concepts are equivalent) OMIM:211910 E (Exact mapping: the two concepts are equivalent) UMLS:C1859359 E (Exact mapping: the two concepts are equivalent) Progressive diaphyseal dysplasia Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Orphanet ICD-10:Q78.3 ICD-11:LD24.1Y MeSH:D003966 MedDRA:10087147 OMIM:131300 UMLS:C0011989 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1328 Camurati-Engelmann disease ORPHA:1328 ICD-10:Q78.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D003966 E (Exact mapping: the two concepts are equivalent) MedDRA:10087147 E (Exact mapping: the two concepts are equivalent) OMIM:131300 E (Exact mapping: the two concepts are equivalent) UMLS:C0011989 E (Exact mapping: the two concepts are equivalent) CAVC Complete AVSD Complete atrioventricular canal Complete atrioventricular canal defect Complete atrioventricular septal defect with atrial and ventricular components A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus. Orphanet ICD-10:Q21.2 ICD-11:LA87.43 UMLS:C0344787 Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1329 Complete atrioventricular septal defect ORPHA:1329 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA87.43 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0344787 E (Exact mapping: the two concepts are equivalent) Berylliosis Chronic berylliosis Chronic beryllium lung disease A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. Orphanet ICD-10:J63.2 ICD-11:CA60.6 MeSH:D001607 MedDRA:10004485 UMLS:C0221052 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=133 Chronic beryllium disease ORPHA:133 ICD-10:J63.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:CA60.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001607 E (Exact mapping: the two concepts are equivalent) MedDRA:10004485 E (Exact mapping: the two concepts are equivalent) UMLS:C0221052 E (Exact mapping: the two concepts are equivalent) PAVC Partial AVSD Partial atrioventricular canal defect A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum. Orphanet ICD-10:Q21.2 ICD-11:LA87.40 MeSH:C536112 UMLS:C0344735 Not applicable All ages Europe AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1330 Partial atrioventricular septal defect ORPHA:1330 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536112 E (Exact mapping: the two concepts are equivalent) UMLS:C0344735 E (Exact mapping: the two concepts are equivalent) Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents. Orphanet ICD-10:C61 ICD-11:2C82.Y MeSH:C537243 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:603688 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 OMIM:614731 UMLS:C2931456 Not applicable Adult United States AND has_annual_incidence_average_value : 9.4 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1331 Familial prostate cancer ORPHA:1331 ICD-10:C61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C82.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537243 E (Exact mapping: the two concepts are equivalent) OMIM:176807 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:300147 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300704 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601518 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602759 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603688 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608656 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608658 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609299 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609558 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610321 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610997 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611868 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611928 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611955 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611958 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611959 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614731 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931456 E (Exact mapping: the two concepts are equivalent) MTC Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT). Orphanet ICD-10:C73 ICD-11:2D10.4 MeSH:C536914 MedDRA:10027101 UMLS:C0238462 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1332 Medullary thyroid carcinoma ORPHA:1332 ICD-10:C73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D10.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536914 E (Exact mapping: the two concepts are equivalent) MedDRA:10027101 E (Exact mapping: the two concepts are equivalent) UMLS:C0238462 E (Exact mapping: the two concepts are equivalent) Familial pancreatic cancer Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. Orphanet ICD-10:C25 ICD-11:2C10.Z MeSH:C535837 OMIM:260350 OMIM:606856 OMIM:613347 OMIM:613348 OMIM:614320 UMLS:C2931038 Autosomal dominant Multigenic/multifactorial Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1333 Familial pancreatic carcinoma ORPHA:1333 ICD-10:C25 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2C10.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535837 E (Exact mapping: the two concepts are equivalent) OMIM:260350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:606856 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613347 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613348 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614320 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931038 E (Exact mapping: the two concepts are equivalent) CMC A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen <i>Candida albicans</i>. Orphanet ICD-10:B37.2 ICD-11:1F23.14 MeSH:D002178 MedDRA:10009007 OMIM:114580 OMIM:247650 OMIM:252250 OMIM:607644 OMIM:613108 OMIM:613953 OMIM:613956 OMIM:615527 OMIM:616445 UMLS:C0006845 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1334 Chronic mucocutaneous candidiasis ORPHA:1334 ICD-10:B37.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F23.14 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002178 E (Exact mapping: the two concepts are equivalent) MedDRA:10009007 E (Exact mapping: the two concepts are equivalent) OMIM:114580 E (Exact mapping: the two concepts are equivalent) OMIM:247650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607644 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613108 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613953 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613956 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615527 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616445 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0006845 E (Exact mapping: the two concepts are equivalent) 5q13.2 BCD541 GEMIN1 SMA1 SMA2 SMA3 SMNT TDRD16A gemin-1 tudor domain containing 16A ClinVar:SMN1 Ensembl:ENSG00000172062 Genatlas:SMN1 HGNC:11117 OMIM:600354 Reactome:Q16637 SwissProt:Q16637 SMN1 survival of motor neuron 1, telomeric Cantrell deformity Cantrell syndrome Thoraco-abdominal syndrome Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. Orphanet ICD-10:Q89.7 ICD-11:LD2F.1Y MeSH:D058502 OMIM:313850 UMLS:C0559483 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.55 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1335 Pentalogy of Cantrell ORPHA:1335 ICD-10:Q89.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058502 E (Exact mapping: the two concepts are equivalent) OMIM:313850 E (Exact mapping: the two concepts are equivalent) UMLS:C0559483 E (Exact mapping: the two concepts are equivalent) Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q82.8 MeSH:C564172 OMIM:144190 UMLS:C1840428 Autosomal dominant Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1336 Hyperkeratosis-hyperpigmentation syndrome ORPHA:1336 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564172 E (Exact mapping: the two concepts are equivalent) OMIM:144190 E (Exact mapping: the two concepts are equivalent) UMLS:C1840428 E (Exact mapping: the two concepts are equivalent) Ostravik-Lindemann-Solberg syndrome A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. Orphanet ICD-10:Q87.8 MeSH:C535849 OMIM:217085 UMLS:C2931046 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1338 Heart defect-tongue hamartoma-polysyndactyly syndrome ORPHA:1338 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535849 E (Exact mapping: the two concepts are equivalent) OMIM:217085 E (Exact mapping: the two concepts are equivalent) UMLS:C2931046 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Grosse syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Cranioacrofacial syndrome ORPHA:1339 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha methylacetoacetic aciduria Alpha-methyl-acetoacetyl-CoA thiolase deficiency Mitochondrial acetoacetyl-coenzyme A thiolase deficiency T2 deficiency A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence. Orphanet ICD-10:E71.1 ICD-11:5C50.DY MeSH:C535434 OMIM:203750 UMLS:C1536500 Autosomal recessive Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_birth_prevalence_average_value : 0.98 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000 Viet Nam AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=134 Beta-ketothiolase deficiency ORPHA:134 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.DY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535434 E (Exact mapping: the two concepts are equivalent) OMIM:203750 E (Exact mapping: the two concepts are equivalent) UMLS:C1536500 E (Exact mapping: the two concepts are equivalent) CFC syndrome A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C535579 MedDRA:10082805 OMIM:115150 OMIM:615278 OMIM:615279 OMIM:615280 UMLS:C1275081 Autosomal dominant Antenatal Neonatal Japan AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1340 Cardiofaciocutaneous syndrome ORPHA:1340 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535579 E (Exact mapping: the two concepts are equivalent) MedDRA:10082805 E (Exact mapping: the two concepts are equivalent) OMIM:115150 E (Exact mapping: the two concepts are equivalent) OMIM:615278 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615279 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615280 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1275081 E (Exact mapping: the two concepts are equivalent) Atriodigital dysplasia type 3 Cardiomelic syndrome type 3 Heart-hand syndrome, Spanish type Heart-limb syndrome type 3 A rare multiple congenital anomalies/dysmorphic syndrome characterized by cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, affecting principally the middle phalanges of both hands, in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. There have been no further descriptions in the literature since 1980. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C535853 OMIM:140450 UMLS:C1841657 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1342 Heart-hand syndrome type 3 ORPHA:1342 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535853 E (Exact mapping: the two concepts are equivalent) OMIM:140450 E (Exact mapping: the two concepts are equivalent) UMLS:C1841657 E (Exact mapping: the two concepts are equivalent) Atrial cardiomyopathy with heart block A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. Orphanet ICD-10:I45.5 ICD-11:BC80.Y MedDRA:10087237 OMIM:108770 OMIM:615745 UMLS:C0541782 Autosomal dominant Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1344 Atrial standstill ORPHA:1344 ICD-10:I45.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC80.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087237 E (Exact mapping: the two concepts are equivalent) OMIM:108770 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615745 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0541782 E (Exact mapping: the two concepts are equivalent) Krasnow-Qazi syndrome A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:I42.0 MeSH:C537616 UMLS:C2931548 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1345 Cardiomyopathy-cataract-hip spine disease syndrome ORPHA:1345 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537616 E (Exact mapping: the two concepts are equivalent) UMLS:C2931548 E (Exact mapping: the two concepts are equivalent) Maternally-inherited cardiomyopathy and deafness mtDNA-related cardiomyopathy and deafness mtDNA-related cardiomyopathy and hearing loss tRNA-LYS-related cardiomyopathy-hearing loss syndrome A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. Orphanet ICD-10:E88.8 UMLS:C4510409 Mitochondrial inheritance Adult Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1349 Mitochondrial DNA-related cardiomyopathy and hearing loss ORPHA:1349 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510409 E (Exact mapping: the two concepts are equivalent) Childhood ataxia with diffuse central nervous system hypomyelination Leukoencephalopathy with vanishing white matter Myelinosis centralis diffusa A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. Orphanet ICD-10:E75.2 ICD-11:8A44.3 OMIM:603896 OMIM:615889 UMLS:C1858991 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 148.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=135 CACH syndrome ORPHA:135 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:603896 E (Exact mapping: the two concepts are equivalent) OMIM:615889 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1858991 E (Exact mapping: the two concepts are equivalent) Atriodigital dysplasia type 2 Tabatznik syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C536784 UMLS:C2931323 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1350 Heart-hand syndrome type 2 ORPHA:1350 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536784 E (Exact mapping: the two concepts are equivalent) UMLS:C2931323 E (Exact mapping: the two concepts are equivalent) Houlston-Ironton-Temple syndrome A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Orphanet ICD-10:Q87.8 OMIM:600123 UMLS:C4706259 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:600123 E (Exact mapping: the two concepts are equivalent) UMLS:C4706259 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.2 MeSH:C535850 OMIM:212135 UMLS:C1859327 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1354 Heart defects-limb shortening syndrome ORPHA:1354 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535850 E (Exact mapping: the two concepts are equivalent) OMIM:212135 E (Exact mapping: the two concepts are equivalent) UMLS:C1859327 E (Exact mapping: the two concepts are equivalent) Sonoda syndrome A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. Orphanet ICD-10:Q87.8 MeSH:C536680 OMIM:270460 UMLS:C0796162 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1355 Congenital heart defect-round face-developmental delay syndrome ORPHA:1355 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536680 E (Exact mapping: the two concepts are equivalent) OMIM:270460 E (Exact mapping: the two concepts are equivalent) UMLS:C0796162 E (Exact mapping: the two concepts are equivalent) Myopathy-Moebius-Robin syndrome Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C536102 OMIM:254940 OMIM:619941 UMLS:C1850746 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1358 Carey-Fineman-Ziter syndrome ORPHA:1358 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536102 E (Exact mapping: the two concepts are equivalent) OMIM:254940 E (Exact mapping: the two concepts are equivalent) OMIM:619941 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1850746 E (Exact mapping: the two concepts are equivalent) Carney syndrome Myxoma-spotty pigmentation-endocrine overactivity syndrome A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Orphanet ICD-10:D44.8 ICD-11:5A70.Y MeSH:D056733 MedDRA:10076601 OMIM:160980 OMIM:605244 UMLS:C0406810 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 750.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1359 Carney complex ORPHA:1359 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056733 E (Exact mapping: the two concepts are equivalent) MedDRA:10076601 E (Exact mapping: the two concepts are equivalent) OMIM:160980 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605244 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0406810 E (Exact mapping: the two concepts are equivalent) CADASIL Hereditary multi-infarct dementia CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients. Orphanet ICD-10:I67.8 ICD-11:8B22.C0 MeSH:D046589 MedDRA:10065551 OMIM:125310 UMLS:C0751587 Autosomal dominant Adult Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.C0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D046589 E (Exact mapping: the two concepts are equivalent) MedDRA:10065551 E (Exact mapping: the two concepts are equivalent) OMIM:125310 E (Exact mapping: the two concepts are equivalent) UMLS:C0751587 E (Exact mapping: the two concepts are equivalent) A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms. Orphanet ICD-10:E70.8 ICD-11:5C50.F1 OMIM:212200 Autosomal recessive Infancy Worldwide AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1361 Carnosinase deficiency ORPHA:1361 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.F1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:212200 E (Exact mapping: the two concepts are equivalent) Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia Cataract-alopecia-sclerodactyly syndrome PPK-CA, Wallis type Palmoplantar keratoderma and congenital alopecia, Wallis type Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. Orphanet ICD-10:Q82.8 ICD-10:Q84.0 ICD-11:LD27.0Y MeSH:C535336 OMIM:212360 UMLS:C1859316 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535336 E (Exact mapping: the two concepts are equivalent) OMIM:212360 E (Exact mapping: the two concepts are equivalent) UMLS:C1859316 E (Exact mapping: the two concepts are equivalent) Cataract-ataxia-hearing loss syndrome A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:G11.2 ICD-11:LD2H.Y MeSH:C538283 OMIM:212710 UMLS:C0796123 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1368 Cataract-ataxia-deafness syndrome ORPHA:1368 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538283 E (Exact mapping: the two concepts are equivalent) OMIM:212710 E (Exact mapping: the two concepts are equivalent) UMLS:C0796123 E (Exact mapping: the two concepts are equivalent) Sengers syndrome Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Orphanet ICD-10:Q87.8 ICD-11:5C53.Y MeSH:C538280 OMIM:212350 OMIM:615418 UMLS:C1859317 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538280 E (Exact mapping: the two concepts are equivalent) OMIM:212350 E (Exact mapping: the two concepts are equivalent) OMIM:615418 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1859317 E (Exact mapping: the two concepts are equivalent) CDG Carbohydrate deficient glycoprotein syndrome A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. Orphanet ICD-10:E77.8 MeSH:D018981 MedDRA:10075892 UMLS:C0282577 Autosomal recessive X-linked recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137 Congenital disorder of glycosylation Category ORPHA:137 ICD-10:E77.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018981 E (Exact mapping: the two concepts are equivalent) MedDRA:10075892 E (Exact mapping: the two concepts are equivalent) UMLS:C0282577 E (Exact mapping: the two concepts are equivalent) Wellesley-Carman-French syndrome Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Orphanet ICD-10:Q87.8 OMIM:115645 UMLS:C4274900 Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1373 Cataract-aberrant oral frenula-growth delay syndrome ORPHA:1373 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:115645 E (Exact mapping: the two concepts are equivalent) UMLS:C4274900 E (Exact mapping: the two concepts are equivalent) CAHMR syndrome Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. Orphanet ICD-10:Q87.8 ICD-11:LD27.3 MeSH:C537959 OMIM:211770 UMLS:C0796282 Autosomal recessive Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1375 Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537959 E (Exact mapping: the two concepts are equivalent) OMIM:211770 E (Exact mapping: the two concepts are equivalent) UMLS:C0796282 E (Exact mapping: the two concepts are equivalent) HIE Hypoxic and ischemic brain injury in the newborn Hypoxic-ischemic encephalopathy Perinatal hypoxia A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy. Orphanet ICD-10:P91.6 ICD-11:KB04 UMLS:C5575064 Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137577 Neonatal hypoxic and ischemic brain injury ORPHA:137577 ICD-10:P91.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5575064 E (Exact mapping: the two concepts are equivalent) VIN Vulvar intraepithelial tumor A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritus/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosus or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity. Orphanet ICD-10:D07.1 ICD-11:2E67.12 ICD-11:2E67.13 ICD-11:GA13.1 UMLS:C0346210 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137583 Vulvar intraepithelial neoplasia ORPHA:137583 ICD-10:D07.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2E67.12 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2E67.13 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA13.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0346210 E (Exact mapping: the two concepts are equivalent) OBSOLETE: HSV keratitis OBSOLETE: Herpetic keratitis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Infective keratitis OBSOLETE: Herpes simplex virus keratitis ORPHA:137586 Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. Orphanet ICD-10:H16.8 ICD-11:1F00.10 UMLS:C4749790 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137593 Infectious epithelial keratitis ORPHA:137593 ICD-10:H16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749790 E (Exact mapping: the two concepts are equivalent) Neurotrophic keratitis Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. Orphanet ICD-10:H16.2 ICD-11:1F00.10 MedDRA:10069732 UMLS:C0339296 Not applicable Adult Childhood Europe AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137596 Neurotrophic keratopathy ORPHA:137596 ICD-10:H16.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069732 E (Exact mapping: the two concepts are equivalent) UMLS:C0339296 E (Exact mapping: the two concepts are equivalent) Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases. Orphanet ICD-10:H16.3 ICD-11:1F00.10 UMLS:C5680626 Not applicable All ages France AND has_annual_incidence_average_value : 5.4 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2091 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137599 Herpes simplex virus stromal keratitis ORPHA:137599 ICD-10:H16.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680626 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal ichthyosis syndrome with other associated signs OBSOLETE: Congenital cataract-ichthyosis syndrome ORPHA:1376 A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished. Orphanet ICD-10:H16.8 ICD-11:9A70.0 MedDRA:10062621 UMLS:C0423262 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137602 Corneal endotheliitis ORPHA:137602 ICD-10:H16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10062621 E (Exact mapping: the two concepts are equivalent) UMLS:C0423262 E (Exact mapping: the two concepts are equivalent) NF1-like syndrome Neurofibromatosis 1-like syndrome Nonmosaic LGSS Nonmosaic Legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. Orphanet ICD-10:Q85.0 ICD-11:LD27.5 MeSH:C548032 OMIM:611431 UMLS:C1969623 Autosomal dominant Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137605 Legius syndrome ORPHA:137605 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548032 E (Exact mapping: the two concepts are equivalent) OMIM:611431 E (Exact mapping: the two concepts are equivalent) UMLS:C1969623 E (Exact mapping: the two concepts are equivalent) SOLAMEN syndrome A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. Orphanet ICD-10:Q87.3 ICD-11:LD2D.Y UMLS:C4706610 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706610 E (Exact mapping: the two concepts are equivalent) Nephrogenic fibrosing dermopathy Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. Orphanet ICD-10:L98.8 ICD-11:FB51.Y MedDRA:10067467 UMLS:C3888044 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137617 Nephrogenic systemic fibrosis ORPHA:137617 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10067467 E (Exact mapping: the two concepts are equivalent) UMLS:C3888044 E (Exact mapping: the two concepts are equivalent) Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. Orphanet ICD-10:Q87.8 ICD-11:DA90.Y UMLS:C4304307 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304307 E (Exact mapping: the two concepts are equivalent) GSD due to muscle and heart glycogen synthase deficiency GSD type 0b Glycogen storage disease type 0b Glycogenosis due to muscle and heart glycogen synthase deficiency Glycogenosis type 0b Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:611556 UMLS:C4510752 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency ORPHA:137625 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611556 E (Exact mapping: the two concepts are equivalent) UMLS:C4510752 E (Exact mapping: the two concepts are equivalent) Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. Orphanet ICD-10:Q28.8 UMLS:C4303970 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137628 Cardiac anomalies-heterotaxy syndrome ORPHA:137628 ICD-10:Q28.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303970 E (Exact mapping: the two concepts are equivalent) Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. Orphanet ICD-10:D82.8 ICD-11:4A00.2 OMIM:611926 UMLS:C4302919 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611926 E (Exact mapping: the two concepts are equivalent) UMLS:C4302919 E (Exact mapping: the two concepts are equivalent) A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Orphanet ICD-10:Q87.3 ICD-11:LD2C UMLS:C4302813 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137634 Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4302813 E (Exact mapping: the two concepts are equivalent) Ataxia-delayed dentition-hypomyelination syndrome ICD-10:E75.2 OMIM:607694 UMLS:C4706676 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Clinical subtype ORPHA:137639 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607694 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4706676 E (Exact mapping: the two concepts are equivalent) 4q27 FLJ35630 FLJ41559 ClinVar:BBS12 Ensembl:ENSG00000181004 Genatlas:BBS12 HGNC:26648 OMIM:610683 Reactome:Q6ZW61 SwissProt:Q6ZW61 BBS12 Bardet-Biedl syndrome 12 Kelly-Kirson-Wyatt syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Jawad syndrome Microcephaly-digital anomalies-intellectual disability syndrome ORPHA:137653 Woods-Crouchman-Huson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Filippi syndrome OMIM:615236 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome ORPHA:137658 OMIM:615236 E (Exact mapping: the two concepts are equivalent) CM-AVM This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. Orphanet ICD-10:Q27.3 ICD-11:LA90.3Y MeSH:C564254 OMIM:608354 OMIM:618196 UMLS:C1842180 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 261.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137667 Capillary malformation-arteriovenous malformation ORPHA:137667 ICD-10:Q27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564254 E (Exact mapping: the two concepts are equivalent) OMIM:608354 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618196 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842180 E (Exact mapping: the two concepts are equivalent) A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness. Orphanet ICD-10:H18.7 ICD-11:9A78.4 UMLS:C0339288 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137672 Pellucid marginal degeneration ORPHA:137672 ICD-10:H18.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0339288 E (Exact mapping: the two concepts are equivalent) Foamy myocardial transformation of infancy Infantile cardiomyopathy with histiocytoid change Infantile xanthomatous cardiomyopathy Oncocytic cardiomyopathy A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. Orphanet ICD-10:I42.0 ICD-11:BC43.00 MeSH:C535584 OMIM:212080 OMIM:500000 UMLS:C1708371 Autosomal recessive Unknown X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137675 Histiocytoid cardiomyopathy ORPHA:137675 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535584 E (Exact mapping: the two concepts are equivalent) OMIM:212080 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:500000 E (Exact mapping: the two concepts are equivalent) UMLS:C1708371 E (Exact mapping: the two concepts are equivalent) Czech dysplasia, metatarsal type SED with metatarsal shortening A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535766 OMIM:609162 UMLS:C1836683 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 13.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137678 Spondyloepiphyseal dysplasia with metatarsal shortening ORPHA:137678 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535766 E (Exact mapping: the two concepts are equivalent) OMIM:609162 E (Exact mapping: the two concepts are equivalent) UMLS:C1836683 E (Exact mapping: the two concepts are equivalent) Hepatoencephalopathy due to COXPD1 A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:609060 UMLS:C4707239 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ORPHA:137681 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609060 E (Exact mapping: the two concepts are equivalent) UMLS:C4707239 E (Exact mapping: the two concepts are equivalent) A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss). Orphanet ICD-10:N85.6 ICD-11:GA16.2 MedDRA:10053868 UMLS:C0156372 Not applicable Adult Europe AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137686 Asherman syndrome ORPHA:137686 ICD-10:N85.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA16.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10053868 E (Exact mapping: the two concepts are equivalent) UMLS:C0156372 E (Exact mapping: the two concepts are equivalent) CMV disease in patients with impaired cell mediated immunity deemed at risk ICD-10:B25.8 Not applicable All ages Europe AND has_point_prevalence_average_value : 25.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk ORPHA:137698 ICD-10:B25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. Orphanet ICD-10:Q13.8 MeSH:C538287 OMIM:115700 OMIM:116200 OMIM:601547 OMIM:604219 UMLS:C1861829 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1377 Cataract-microcornea syndrome ORPHA:1377 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538287 E (Exact mapping: the two concepts are equivalent) OMIM:115700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601547 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604219 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1861829 E (Exact mapping: the two concepts are equivalent) ACY1D N-acyl-L-amino acid amidohydrolase deficiency N-acyl-aliphatic-L-amino acid amidohydrolase deficiency A rare inborn error of metabolism (organic aciduria) characterized by elevated urinary levels of numerous N-acetylated amino acids. A causal relationship with a specific clinical phenotype is uncertain. Orphanet ICD-10:E72.8 ICD-11:5C50.E1 MeSH:C538246 OMIM:609924 UMLS:C1835922 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137754 Aminoacylase 1 deficiency ORPHA:137754 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538246 E (Exact mapping: the two concepts are equivalent) OMIM:609924 E (Exact mapping: the two concepts are equivalent) UMLS:C1835922 E (Exact mapping: the two concepts are equivalent) LCCS2 Multiple contracture syndrome, Israeli-Bedouin type Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C564369 OMIM:607598 UMLS:C1843478 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137776 Lethal congenital contracture syndrome type 2 ORPHA:137776 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564369 E (Exact mapping: the two concepts are equivalent) OMIM:607598 E (Exact mapping: the two concepts are equivalent) UMLS:C1843478 E (Exact mapping: the two concepts are equivalent) LCCS3 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C566961 OMIM:611369 OMIM:614915 UMLS:C1969655 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137783 Lethal congenital contracture syndrome type 3 ORPHA:137783 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566961 E (Exact mapping: the two concepts are equivalent) OMIM:611369 E (Exact mapping: the two concepts are equivalent) OMIM:614915 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1969655 E (Exact mapping: the two concepts are equivalent) PLCA Primary localized cutaneous amyloidosis A rare group of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. Orphanet ICD-11:5D00.0 MeSH:C562642 MedDRA:10011659 UMLS:C0268397 Autosomal dominant Not applicable All ages Taiwan, Province of China AND has_point_prevalence_average_value : 9.8 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137807 Primary cutaneous amyloidosis Clinical group ORPHA:137807 ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562642 E (Exact mapping: the two concepts are equivalent) MedDRA:10011659 E (Exact mapping: the two concepts are equivalent) UMLS:C0268397 E (Exact mapping: the two concepts are equivalent) PLCNA Primary localized cutaneous nodular amyloidosis Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms). Orphanet ICD-10:E85.4+ ICD-10:L99.0* ICD-11:5D00.0 MedDRA:10056953 UMLS:C4274331 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137810 Nodular cutaneous amyloidosis ORPHA:137810 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10056953 E (Exact mapping: the two concepts are equivalent) UMLS:C4274331 E (Exact mapping: the two concepts are equivalent) Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. Orphanet ICD-10:E85.4+ ICD-10:L99.0* ICD-11:5D00.0 UMLS:C0544839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137814 Macular amyloidosis ORPHA:137814 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0544839 E (Exact mapping: the two concepts are equivalent) Adhesive arachnoiditis Chronic arachnoiditis A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. Orphanet ICD-10:G03.9 ICD-11:8E40.3 MeSH:D001100 MedDRA:10003074 OMIM:182950 UMLS:C0003708 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137817 Arachnoiditis ORPHA:137817 ICD-10:G03.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E40.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001100 E (Exact mapping: the two concepts are equivalent) MedDRA:10003074 E (Exact mapping: the two concepts are equivalent) OMIM:182950 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0003708 E (Exact mapping: the two concepts are equivalent) Endometriosis outside pelvis A rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area. Orphanet ICD-10:N80.0 ICD-10:N80.1 ICD-10:N80.2 ICD-10:N80.3 ICD-10:N80.4 ICD-10:N80.5 ICD-10:N80.6 ICD-10:N80.8 ICD-10:N80.9 ICD-11:GA10.C ICD-11:GA10.C0 ICD-11:GA10.C1 ICD-11:GA10.C2 ICD-11:GA10.C3 ICD-11:GA10.CY ICD-11:GA10.D ICD-11:GA10.D0 ICD-11:GA10.DY ICD-11:GA10.E ICD-11:GA10.F ICD-11:GA10.G ICD-11:GA10.H ICD-11:GA10.Y UMLS:C0404545 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137820 Extrapelvic endometriosis ORPHA:137820 ICD-10:N80.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.CY - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.D - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.D0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.DY - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.E - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.F - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.G - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.H - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0404545 E (Exact mapping: the two concepts are equivalent) OPHN1 syndrome Oligophrenin-1 syndrome X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. Orphanet ICD-10:Q04.3 ICD-11:LD90 OMIM:300486 UMLS:C4304937 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137831 X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300486 E (Exact mapping: the two concepts are equivalent) UMLS:C4304937 E (Exact mapping: the two concepts are equivalent) Ter Haar syndrome A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Orphanet ICD-10:Q87.8 ICD-11:LD25.1 MeSH:C537274 OMIM:249420 UMLS:C1855305 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137834 Frank-Ter Haar syndrome ORPHA:137834 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537274 E (Exact mapping: the two concepts are equivalent) OMIM:249420 E (Exact mapping: the two concepts are equivalent) UMLS:C1855305 E (Exact mapping: the two concepts are equivalent) Lemierre postanginal sepsis Postanginal sepsis secondary to orophyngeal infection Septic phlebitis of the internal jugular vein Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to <i>Fusobacterium necrophorum</i> and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. Orphanet ICD-10:J03.8 MeSH:D057831 MedDRA:10065552 UMLS:C0343525 Adolescent Denmark AND has_annual_incidence_average_value : 36.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137839 Lemierre syndrome ORPHA:137839 ICD-10:J03.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D057831 E (Exact mapping: the two concepts are equivalent) MedDRA:10065552 E (Exact mapping: the two concepts are equivalent) UMLS:C0343525 E (Exact mapping: the two concepts are equivalent) Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome OMIM:601346 UMLS:C1832443 Martínez-Frías syndrome ORPHA:137862 OMIM:601346 E (Exact mapping: the two concepts are equivalent) UMLS:C1832443 E (Exact mapping: the two concepts are equivalent) MMND Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. Orphanet ICD-10:G12.2 ICD-11:8B60.7 UMLS:C0393551 Not applicable X-linked recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137867 Madras motor neuron disease ORPHA:137867 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B60.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0393551 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial partial lipodystrophy, Dunnigan type OBSOLETE: Laminopathy type Decaudain-Vigouroux ORPHA:137871 Question mark ear syndrome A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported. Orphanet ICD-10:Q75.8 ICD-11:LD2F.16 MeSH:C538270 OMIM:602483 OMIM:612798 OMIM:614669 OMIM:615706 UMLS:C1865295 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137888 Auriculocondylar syndrome ORPHA:137888 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538270 E (Exact mapping: the two concepts are equivalent) OMIM:602483 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612798 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614669 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615706 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1865295 E (Exact mapping: the two concepts are equivalent) Macrocephalic sperm head syndrome Male infertility due to macrozoospermia A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). Orphanet ICD-10:N46 ICD-11:MF7Y MeSH:C562903 OMIM:243060 UMLS:C0403812 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa Clinical subtype ORPHA:137893 ICD-10:N46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562903 E (Exact mapping: the two concepts are equivalent) OMIM:243060 E (Exact mapping: the two concepts are equivalent) UMLS:C0403812 E (Exact mapping: the two concepts are equivalent) LBSL Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Orphanet ICD-10:E88.8 ICD-11:5C53.23 MeSH:C567009 OMIM:611105 UMLS:C1970180 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 127.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ORPHA:137898 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567009 E (Exact mapping: the two concepts are equivalent) OMIM:611105 E (Exact mapping: the two concepts are equivalent) UMLS:C1970180 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated optic nerve hypoplasia OBSOLETE: Isolated optic nerve hypoplasia/aplasia ORPHA:137902 UMLS:C5680629 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137905 Syndromic optic nerve hypoplasia Category ORPHA:137905 UMLS:C5680629 E (Exact mapping: the two concepts are equivalent) COXPD5 Combined oxidative phosphorylation defect type 5 This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. Orphanet ICD-10:E88.8 ICD-11:5C53.23 MeSH:C567126 OMIM:611719 UMLS:C2673642 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137908 Hypotonia with lactic acidemia and hyperammonemia ORPHA:137908 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567126 E (Exact mapping: the two concepts are equivalent) OMIM:611719 E (Exact mapping: the two concepts are equivalent) UMLS:C2673642 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sturge-Weber syndrome Autism-facial port-wine stain syndrome ORPHA:137911 Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. Orphanet ICD-10:Q30.0 ICD-11:LA70.2 MeSH:D002754 MedDRA:10008587 OMIM:608911 UMLS:C0008297 Not applicable Childhood Infancy Neonatal Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 7.2 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 4.9 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 8.9 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137914 Choanal atresia ORPHA:137914 ICD-10:Q30.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA70.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002754 E (Exact mapping: the two concepts are equivalent) MedDRA:10008587 E (Exact mapping: the two concepts are equivalent) OMIM:608911 E (Exact mapping: the two concepts are equivalent) UMLS:C0008297 E (Exact mapping: the two concepts are equivalent) A rare, usually, sporadic congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. Orphanet ICD-10:Q30.0 ICD-11:LA70.2 UMLS:C5680630 Not applicable Infancy Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137917 Choanal atresia, unilateral Clinical subtype ORPHA:137917 ICD-10:Q30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680630 E (Exact mapping: the two concepts are equivalent) A rare, usually sporadic, congenital nose and cavum anomaly characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. It is caused by blockade of the nose on both sides by bony or soft tissue formed during embryological development. Orphanet ICD-10:Q30.0 ICD-11:LA70.2 UMLS:C4025317 Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137920 Choanal atresia, bilateral Clinical subtype ORPHA:137920 ICD-10:Q30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4025317 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare lymphatic malformation OBSOLETE: Cervicofacial lymphatic malformation ORPHA:137923 Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated. Orphanet ICD-10:D18.1 UMLS:C4706521 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137926 Primary laryngeal lymphangioma ORPHA:137926 ICD-10:D18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706521 E (Exact mapping: the two concepts are equivalent) Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. Orphanet ICD-10:G93.8 UMLS:C4749374 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137929 Neonatal brainstem dysfunction ORPHA:137929 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749374 E (Exact mapping: the two concepts are equivalent) Congenital vocal cord paralysis Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months. Orphanet ICD-10:J38.0 ICD-11:LA71.Y MedDRA:10087175 UMLS:C0396058 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137932 Congenital laryngeal palsy ORPHA:137932 ICD-10:J38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087175 E (Exact mapping: the two concepts are equivalent) UMLS:C0396058 E (Exact mapping: the two concepts are equivalent) Laryngotracheal angioma A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial ("beard") distribution. Orphanet ICD-10:D18.0 UMLS:C3839574 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137935 Airway infantile hemangioma ORPHA:137935 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3839574 E (Exact mapping: the two concepts are equivalent) 7q34 CYP5 CYP5A1 THAS TS TXAS TXS cytochrome P450, family 5, subfamily A, polypeptide 1 ClinVar:TBXAS1 Ensembl:ENSG00000059377 Genatlas:TBXAS1 HGNC:11609 IUPHAR:1353 OMIM:274180 Reactome:P24557 SwissProt:P24557 TBXAS1 thromboxane A synthase 1 Xp22.2 SIGMA1B ClinVar:AP1S2 Ensembl:ENSG00000182287 Genatlas:AP1S2 HGNC:560 OMIM:300629 Reactome:P56377 SwissProt:P56377 AP1S2 adaptor related protein complex 1 subunit sigma 2 CHARGE association Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome Hall-Hittner syndrome CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Orphanet ICD-10:Q87.8 ICD-11:5A61.0 MeSH:D058747 MedDRA:10064063 OMIM:214800 UMLS:C0265354 Autosomal dominant Unknown Neonatal Canada AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=138 CHARGE syndrome ORPHA:138 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058747 E (Exact mapping: the two concepts are equivalent) MedDRA:10064063 E (Exact mapping: the two concepts are equivalent) OMIM:214800 E (Exact mapping: the two concepts are equivalent) UMLS:C0265354 E (Exact mapping: the two concepts are equivalent) Crome syndrome A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. Orphanet ICD-10:Q87.8 MeSH:C536216 OMIM:218900 UMLS:C0795914 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1380 Cataract-nephropathy-encephalopathy syndrome ORPHA:1380 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536216 E (Exact mapping: the two concepts are equivalent) OMIM:218900 E (Exact mapping: the two concepts are equivalent) UMLS:C0795914 E (Exact mapping: the two concepts are equivalent) Pierre Robin sequence associated with collagen disease UMLS:C5679599 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=138041 Pierre Robin syndrome associated with collagen disease Category ORPHA:138041 UMLS:C5679599 E (Exact mapping: the two concepts are equivalent) UMLS:C5680627 Europe AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=138044 Rare disease with Pierre Robin syndrome Category ORPHA:138044 UMLS:C5680627 E (Exact mapping: the two concepts are equivalent) Pierre Robin sequence associated with a chromosomal anomaly UMLS:C5679600 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=138047 Pierre Robin syndrome associated with a chromosomal anomaly Category ORPHA:138047 UMLS:C5679600 E (Exact mapping: the two concepts are equivalent) Pierre Robin sequence associated with branchial archs anomalies UMLS:C5679602 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=138050 Pierre Robin syndrome associated with branchial archs anomalies Category ORPHA:138050 UMLS:C5679602 E (Exact mapping: the two concepts are equivalent) Pierre Robin sequence associated with bone disease UMLS:C5679601 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=138055 Pierre Robin syndrome associated with bone disease Category ORPHA:138055 UMLS:C5679601 E (Exact mapping: the two concepts are equivalent) Teratogenic Pierre Robin sequence UMLS:C5679603 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=138059 Teratogenic Pierre Robin syndrome Category ORPHA:138059 UMLS:C5679603 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Syndrome associated with Pierre Robin sequence This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disease with Pierre Robin syndrome OBSOLETE: Syndrome associated with Pierre Robin syndrome ORPHA:138063 OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disease with Pierre Robin syndrome OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies ORPHA:138066 OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome ORPHA:138069 OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome ORPHA:138072 OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly ORPHA:138076 OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome ORPHA:138080 OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation ORPHA:138084 OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies ORPHA:138095 Karandikar-Maria-Kamble syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Orphanet ICD-10:Q87.8 MeSH:C537009 UMLS:C2931391 Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537009 E (Exact mapping: the two concepts are equivalent) UMLS:C2931391 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies ORPHA:138101 OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies ORPHA:138104 OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies ORPHA:138109 OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies ORPHA:138112 OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease ORPHA:138115 OBSOLETE: Acquired alimentary behavior disorder of infancy ORPHA:138118 OBSOLETE: Rare sucking/swallowing disorder ORPHA:138221 2p23.3 GBP LCEH LCHAD MTPA gastrin-binding protein long-chain 2-enoyl-CoA hydratase long-chain-3-hydroxyacyl-CoA dehydrogenase mitochondrial trifunctional protein, alpha subunit ClinVar:HADHA Ensembl:ENSG00000084754 Genatlas:HADHA HGNC:4801 OMIM:600890 Reactome:P40939 SwissProt:P40939 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Cataract-hearing loss-hypogonadism syndrome Schaap-Taylor-Baraitser syndrome Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C536626 UMLS:C2931269 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1383 Cataract-deafness-hypogonadism syndrome ORPHA:1383 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536626 E (Exact mapping: the two concepts are equivalent) UMLS:C2931269 E (Exact mapping: the two concepts are equivalent) 7p14.1 CILD6 DNAI8 NM23-H8 SPTRX2 sperm-specific thioredoxin 2 ClinVar:NME8 Ensembl:ENSG00000086288 Genatlas:NME8 HGNC:16473 OMIM:607421 SwissProt:Q8N427 NME8 NME/NM23 family member 8 19q13.42 CLR19.3 Monarch1 PAN6 PYPAF7 RNO2 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12 ClinVar:NLRP12 Ensembl:ENSG00000142405 Genatlas:NLRP12 HGNC:22938 IUPHAR:1779 OMIM:609648 SwissProt:P59046 NLRP12 NLR family pyrin domain containing 12 13q12.2 CD135 FLK2 STK1 ClinVar:FLT3 Ensembl:ENSG00000122025 Genatlas:FLT3 HGNC:3765 IUPHAR:1807 OMIM:136351 Reactome:P36888 SwissProt:P36888 FLT3 fms related receptor tyrosine kinase 3 5q32 CD140b JTK12 PDGFR1 ClinVar:PDGFRB Ensembl:ENSG00000113721 Genatlas:PDGFRB HGNC:8804 IUPHAR:1804 OMIM:173410 Reactome:P09619 SwissProt:P09619 PDGFRB platelet derived growth factor receptor beta 1q25.2 Gsh4 ClinVar:LHX4 Ensembl:ENSG00000121454 Genatlas:LHX4 HGNC:21734 OMIM:602146 Reactome:Q969G2 SwissProt:Q969G2 LHX4 LIM homeobox 4 Xq27.1 ClinVar:SOX3 Ensembl:ENSG00000134595 Genatlas:SOX3 HGNC:11199 OMIM:313430 Reactome:P41225 SwissProt:P41225 SOX3 SRY-box transcription factor 3 15q26.1 FLJ10719 ClinVar:FANCI Ensembl:ENSG00000140525 Genatlas:FANCI HGNC:25568 OMIM:611360 Reactome:Q9NVI1 SwissProt:Q9NVI1 FANCI FA complementation group I 5p15.33 EST2 TCS1 TP2 TRT hEST2 ClinVar:TERT Ensembl:ENSG00000164362 Genatlas:TERT HGNC:11730 OMIM:187270 Reactome:O14746 SwissProt:O14746 TERT telomerase reverse transcriptase 3q26.2 SCARNA19 TER TR TRC3 hTR small Cajal body-specific RNA 19 ClinVar:TERC Ensembl:ENSG00000270141 Genatlas:TERC HGNC:11727 OMIM:602322 TERC telomerase RNA component 7p15.3 BSF2 HGF HSF IL-6 interferon, beta 2 ClinVar:IL6 Ensembl:ENSG00000136244 Genatlas:IL6 HGNC:6018 OMIM:147620 Reactome:P05231 SwissProt:P05231 IL6 interleukin 6 19q13.33 DKFZp547L134 FLJ20822 FLJ43869 IBSN MGC841 SNDI nuclear pore glycoprotein p62 p62 ClinVar:NUP62 Ensembl:ENSG00000213024 Genatlas:NUP62 HGNC:8066 OMIM:605815 Reactome:P37198 SwissProt:P37198 NUP62 nucleoporin 62 19q13.32 ClinVar:SIX5 Ensembl:ENSG00000177045 Genatlas:SIX5 HGNC:10891 OMIM:600963 SwissProt:Q8N196 SIX5 SIX homeobox 5 11p15.5 ATGL FP17548 TTS-2.2 desnutrin iPLA2zeta ClinVar:PNPLA2 Ensembl:ENSG00000177666 Genatlas:PNPLA2 HGNC:30802 IUPHAR:3253 OMIM:609059 Reactome:Q96AD5 SwissProt:Q96AD5 PNPLA2 patatin like phospholipase domain containing 2 10q25.2 BAM Bamacan HCAP SMC3L1 bamacan bamacan proteoglycan ClinVar:SMC3 Ensembl:ENSG00000108055 Genatlas:SMC3 HGNC:2468 OMIM:606062 Reactome:Q9UQE7 SwissProt:Q9UQE7 SMC3 structural maintenance of chromosomes 3 Xq13.1 ARC240 CAGH45 HOPA KIAA0192 Kohtalo homolog Kto OKS OPA1 TRAP230 ClinVar:MED12 Ensembl:ENSG00000184634 Genatlas:MED12 HGNC:11957 OMIM:300188 Reactome:Q93074 SwissProt:Q93074 MED12 mediator complex subunit 12 3q13.13-q13.2 T cell activation, increased late expression T-cell surface protein tactile TACTILE ClinVar:CD96 Ensembl:ENSG00000153283 Genatlas:CD96 HGNC:16892 OMIM:606037 Reactome:P40200 SwissProt:P40200 CD96 CD96 molecule 1q21.2 CX40 connexin 40 ClinVar:GJA5 Ensembl:ENSG00000265107 Genatlas:GJA5 HGNC:4279 IUPHAR:726 OMIM:121013 Reactome:P36382 SwissProt:P36382 GJA5 gap junction protein alpha 5 7p22.3 DKFZp547D065 DMP4 G-CK IMAGE:4942737 dentin matrix protein 4 golgi casein kinase ClinVar:FAM20C Ensembl:ENSG00000177706 Genatlas:FAM20C HGNC:22140 OMIM:611061 Reactome:Q8IXL6 SwissProt:Q8IXL6 FAM20C FAM20C golgi associated secretory pathway kinase 2q33.1 FLJ21474 KIAA1034 ClinVar:SATB2 Ensembl:ENSG00000119042 Genatlas:SATB2 HGNC:21637 OMIM:608148 Reactome:Q9UPW6 SwissProt:Q9UPW6 SATB2 SATB homeobox 2 2q14.2 HPE9 THP1 THP2 tax helper protein 1 tax helper protein 2 tax-responsive element-2 holding protein ClinVar:GLI2 Ensembl:ENSG00000074047 Genatlas:GLI2 HGNC:4318 OMIM:165230 Reactome:P10070 SwissProt:P10070 GLI2 GLI family zinc finger 2 3p21.31 CR CR-1 Cripto-1 ClinVar:TDGF1 Ensembl:ENSG00000241186 Genatlas:TDGF1 HGNC:11701 OMIM:187395 Reactome:P13385 SwissProt:P13385 CRIPTO cripto, EGF-CFC family member 17q21.2 APRF ClinVar:STAT3 Ensembl:ENSG00000168610 Genatlas:STAT3 HGNC:11364 IUPHAR:2994 OMIM:102582 Reactome:P40763 SwissProt:P40763 STAT3 signal transducer and activator of transcription 3 15q24.1 FLJ12541 RBP receptor retinol binding protein 4 receptor ClinVar:STRA6 Ensembl:ENSG00000137868 Genatlas:STRA6 HGNC:30650 OMIM:610745 Reactome:Q9BX79 SwissProt:Q9BX79 STRA6 signaling receptor and transporter of retinol STRA6 1q32.1 ClinVar:REN Ensembl:ENSG00000143839 Genatlas:REN HGNC:9958 IUPHAR:2413 OMIM:179820 Reactome:P00797 SwissProt:P00797 REN renin 3q24 AG2S AGTR1A AT1 AT1B AT2R1 AT2R1A AT2R1B ATR1 HAT1R angiotensin II type 1 receptor ClinVar:AGTR1 Ensembl:ENSG00000144891 Genatlas:AGTR1 HGNC:336 IUPHAR:34 OMIM:106165 Reactome:P30556 SwissProt:P30556 AGTR1 angiotensin II receptor type 1 Xp22.11 MRSR SPMSY SpS ClinVar:SMS Ensembl:ENSG00000102172 Genatlas:SMS HGNC:11123 OMIM:300105 Reactome:P52788 SwissProt:P52788 SMS spermine synthase 1p13.1 STB2 ClinVar:VANGL1 Ensembl:ENSG00000173218 Genatlas:VANGL1 HGNC:15512 OMIM:610132 Reactome:Q8TAA9 SwissProt:Q8TAA9 VANGL1 VANGL planar cell polarity protein 1 14q23.3 ClinVar:MTHFD1 Ensembl:ENSG00000100714 Genatlas:MTHFD1 HGNC:7432 OMIM:172460 Reactome:P11586 SwissProt:P11586 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 14q32.32 amnionless ClinVar:AMN Ensembl:ENSG00000166126 Genatlas:AMN HGNC:14604 OMIM:605799 Reactome:Q9BXJ7 SwissProt:Q9BXJ7 AMN amnion associated transmembrane protein 12p11.21 CMT4H FRABP Frabin ZFYVE6 frabin ClinVar:FGD4 Ensembl:ENSG00000139132 Genatlas:FGD4 HGNC:19125 OMIM:611104 Reactome:Q96M96 SwissProt:Q96M96 FGD4 FYVE, RhoGEF and PH domain containing 4 11q23.3 CTRP5 DKFZp586B0621 LORD complement-c1q tumor necrosis factor-related protein 5 myonectin ClinVar:C1QTNF5 Ensembl:ENSG00000223953 Genatlas:C1QTNF5 HGNC:14344 OMIM:608752 SwissProt:Q9BXJ0 C1QTNF5 C1q and TNF related 5 15q26.3 CD221 IGFIR IGFR JTK13 MGC18216 ClinVar:IGF1R Ensembl:ENSG00000140443 Genatlas:IGF1R HGNC:5465 IUPHAR:1801 OMIM:147370 Reactome:P08069 SwissProt:P08069 IGF1R insulin like growth factor 1 receptor Xp11.22 JHDM1F KDM7B KIAA1111 ZNF422 histone lysine demethylase PHF8 jumonji C domain-containing histone demethylase 1F lysine demethylase 7B zinc finger protein 422 ClinVar:PHF8 Ensembl:ENSG00000172943 Genatlas:PHF8 HGNC:20672 IUPHAR:2698 OMIM:300560 Reactome:Q9UPP1 SwissProt:Q9UPP1 PHF8 PHD finger protein 8 16p13.3 HBA-T3 ClinVar:HBA1 Ensembl:ENSG00000206172 Genatlas:HBA1 HGNC:4823 OMIM:141800 Reactome:P69905 SwissProt:P69905 HBA1 hemoglobin subunit alpha 1 7q21.3 DSS1 ECD FLJ42280 PSMD15 SHSF1 Shfdg1 deleted in split-hand/foot 1 ClinVar:SHFM1 Ensembl:ENSG00000127922 Genatlas:SHFM1 HGNC:10845 OMIM:601285 Reactome:P60896 SwissProt:P60896 SEM1 SEM1 26S proteasome subunit 2q33.1 GMP1 OFC10 PIC1 SMT3C SMT3H3 SUMO-1 ClinVar:SUMO1 Ensembl:ENSG00000116030 Genatlas:SUMO1 HGNC:12502 OMIM:601912 Reactome:P63165 SwissProt:P63165 SUMO1 small ubiquitin like modifier 1 Martsolf syndrome This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Orphanet ICD-10:Q87.8 ICD-11:5A61.0 MeSH:C536028 OMIM:212720 OMIM:619420 UMLS:C0796037 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1387 Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536028 E (Exact mapping: the two concepts are equivalent) OMIM:212720 E (Exact mapping: the two concepts are equivalent) OMIM:619420 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796037 E (Exact mapping: the two concepts are equivalent) 19p13.3 ARMD6 CORD11 MGC15631 ClinVar:RAX2 Ensembl:ENSG00000173976 Genatlas:RAX2 HGNC:18286 OMIM:610362 SwissProt:Q96IS3 RAX2 retina and anterior neural fold homeobox 2 10q26.13 ARMD7 HtrA IGFBP5-protease ClinVar:HTRA1 Ensembl:ENSG00000166033 Genatlas:HTRA1 HGNC:9476 IUPHAR:3194 OMIM:602194 Reactome:Q92743 SwissProt:Q92743 HTRA1 HtrA serine peptidase 1 11p15.5 KCNQ1 antisense RNA 2 (non-protein coding) KCNQ1 overlapping transcript 1 (non-protein coding) KCNQ1-AS2 KvDMR1 KvLQT1-AS LIT1 NCRNA00012 non-protein coding RNA 12 ClinVar:KCNQ1OT1 Ensembl:ENSG00000269821 Genatlas:KCNQ1OT1 HGNC:6295 OMIM:604115 KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 16q24.2 Cytochrome b-245 light chain flavocytochrome b-558 alpha polypeptide p22-PHOX p22phox ClinVar:CYBA Ensembl:ENSG00000051523 Genatlas:CYBA HGNC:2577 OMIM:608508 Reactome:P13498 SwissProt:P13498 CYBA cytochrome b-245 alpha chain 3p25.2 C-Raf proto-oncogene, serine/threonine kinase CRAF Raf-1 c-Raf ClinVar:RAF1 Ensembl:ENSG00000132155 Genatlas:RAF1 HGNC:9829 IUPHAR:2184 OMIM:164760 Reactome:P04049 SwissProt:P04049 RAF1 Raf-1 proto-oncogene, serine/threonine kinase 6p21.32 CELIAC1 ClinVar:HLA-DQA1 Ensembl:ENSG00000196735 Genatlas:HLA-DQA1 HGNC:4942 OMIM:146880 Reactome:P01909 SwissProt:P01909 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Xq25 IAP-like protein 1 ILP-1 hILP ClinVar:XIAP Ensembl:ENSG00000101966 Genatlas:XIAP HGNC:592 IUPHAR:2790 OMIM:300079 Reactome:P98170 SwissProt:P98170 XIAP X-linked inhibitor of apoptosis 9p13.3 NME1 RMRPR RNase MRP RNA RRP2 ClinVar:RMRP Ensembl:ENSG00000277027 Genatlas:RMRP HGNC:10031 OMIM:157660 RMRP RNA component of mitochondrial RNA processing endoribonuclease Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Index finger anomaly-Pierre Robin syndrome Micrognathia digital syndrome Palatodigital syndrome, Catel-Manzke type Pierre Robin sequence-hyperphalangy-clinodactyly syndrome Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C535347 MedDRA:10083949 OMIM:616145 UMLS:C1844887 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1388 Catel-Manzke syndrome ORPHA:1388 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535347 E (Exact mapping: the two concepts are equivalent) MedDRA:10083949 E (Exact mapping: the two concepts are equivalent) OMIM:616145 E (Exact mapping: the two concepts are equivalent) UMLS:C1844887 E (Exact mapping: the two concepts are equivalent) 7q36.3 HB9 HOXHB9 SCRA1 ClinVar:MNX1 Ensembl:ENSG00000130675 Genatlas:MNX1 HGNC:4979 OMIM:142994 SwissProt:P50219 MNX1 motor neuron and pancreas homeobox 1 2p23.3 MTPB mitochondrial trifunctional protein, beta subunit ClinVar:HADHB Ensembl:ENSG00000138029 Genatlas:HADHB HGNC:4803 OMIM:143450 Reactome:P55084 SwissProt:P55084 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta 10q23.31 ACTSA ClinVar:ACTA2 Ensembl:ENSG00000107796 Genatlas:ACTA2 HGNC:130 OMIM:102620 Reactome:P62736 SwissProt:P62736 ACTA2 actin alpha 2, smooth muscle 1p34.2 GROS1 LEPRECAN MGC117314 growth suppressor 1 procollagen-proline 3-dioxygenase ClinVar:LEPRE1 Ensembl:ENSG00000117385 Genatlas:LEPRE1 HGNC:19316 OMIM:610339 Reactome:Q32P28 SwissProt:Q32P28 P3H1 prolyl 3-hydroxylase 1 3p22.3 CASP LEPREL3 P3H5 leprecan-like 3 prolyl 3-hydroxylase family member 5 (non-enzymatic) ClinVar:CRTAP Ensembl:ENSG00000170275 Genatlas:CRTAP HGNC:2379 OMIM:605497 Reactome:O75718 SwissProt:O75718 CRTAP cartilage associated protein 2q33.1 Casp-8 FLICE MACH MCH5 ClinVar:CASP8 Ensembl:ENSG00000064012 Genatlas:CASP8 HGNC:1509 IUPHAR:1624 OMIM:601763 Reactome:Q14790 SwissProt:Q14790 CASP8 caspase 8 mitochondria TRNL1 ClinVar:MT-TL1 Ensembl:ENSG00000209082 Genatlas:MT-TL1 HGNC:7490 OMIM:590050 MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.8 OMIM:218010 UMLS:C4517339 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1389 Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:218010 E (Exact mapping: the two concepts are equivalent) UMLS:C4517339 E (Exact mapping: the two concepts are equivalent) mitochondria trnK ClinVar:MT-TK Ensembl:ENSG00000210156 Genatlas:MT-TK HGNC:7489 OMIM:590060 MT-TK mitochondrially encoded tRNA-Lys (AAA/G) mitochondria 12S MOTS-c mitochondrial open-reading-frame of the twelve S rRNA type-c mitochondrially encoded 12S ribosomal RNA ClinVar:MT-RNR1 Ensembl:ENSG00000211459 Genatlas:MT-RNR1 HGNC:7470 OMIM:561000 SwissProt:A0A0C5B5G6 MT-RNR1 mitochondrially encoded 12S rRNA mitochondria trnQ ClinVar:MT-TQ Ensembl:ENSG00000210107 Genatlas:MT-TQ HGNC:7495 OMIM:590030 MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) CHILD nevus Congenital hemidysplasia with ichthyosiform erythroderma and limb defects A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD24.04 MeSH:C562515 MedDRA:10081963 OMIM:308050 UMLS:C0265267 X-linked dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139 CHILD syndrome ORPHA:139 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562515 E (Exact mapping: the two concepts are equivalent) MedDRA:10081963 E (Exact mapping: the two concepts are equivalent) OMIM:308050 E (Exact mapping: the two concepts are equivalent) UMLS:C0265267 E (Exact mapping: the two concepts are equivalent) Hunter-Thompson-Reed syndrome A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979. Orphanet ICD-10:Q87.8 UMLS:C5679607 Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1390 Night blindness-skeletal anomalies-dysmorphism syndrome ORPHA:1390 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679607 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare developmental defect during embryogenesis OBSOLETE: Sequence or association ORPHA:139006 UMLS:C5680623 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139009 Developmental anomaly of metabolic origin Category ORPHA:139009 UMLS:C5680623 E (Exact mapping: the two concepts are equivalent) Rare skeletal development disorder UMLS:C5679598 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139012 Rare bone development disorder Category ORPHA:139012 UMLS:C5679598 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare bone development disorder OBSOLETE: Chondrodysplastic malformation syndrome ORPHA:139015 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare bone development disorder OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones ORPHA:139018 UMLS:C5680618 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139021 Malformation syndrome with short stature Category ORPHA:139021 UMLS:C5680618 E (Exact mapping: the two concepts are equivalent) UMLS:C5680619 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139024 Overgrowth/obesity syndrome Category ORPHA:139024 UMLS:C5680619 E (Exact mapping: the two concepts are equivalent) UMLS:C5680621 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139027 Rare developmental defect with skin/mucosae involvement Category ORPHA:139027 UMLS:C5680621 E (Exact mapping: the two concepts are equivalent) UMLS:C5680622 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139030 Rare developmental defect with connective tissue involvement Category ORPHA:139030 UMLS:C5680622 E (Exact mapping: the two concepts are equivalent) ICD-11:LD2B https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139033 Progeroid syndrome Category ORPHA:139033 ICD-11:LD2B - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680620 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139036 Branchial arch or oral-acral syndrome Category ORPHA:139036 UMLS:C5680620 E (Exact mapping: the two concepts are equivalent) UMLS:C5680616 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139039 Orofacial clefting syndrome Category ORPHA:139039 UMLS:C5680616 E (Exact mapping: the two concepts are equivalent) UMLS:C5680617 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139042 Malformation syndrome with odontal and/or periodontal component Category ORPHA:139042 UMLS:C5680617 E (Exact mapping: the two concepts are equivalent) 7q34 TRY2 trypsin 2 ClinVar:PRSS2 Ensembl:ENSG00000275896 Genatlas:PRSS2 HGNC:9483 IUPHAR:2398 OMIM:601564 Reactome:P07478 SwissProt:P07478 PRSS2 serine protease 2 1p36.21 CLCR ELA4 caldecrin chymotrypsinogen C elastase 4 ClinVar:CTRC Ensembl:ENSG00000162438 Genatlas:CTRC HGNC:2523 IUPHAR:2341 OMIM:601405 Reactome:Q99895 SwissProt:Q99895 CTRC chymotrypsin C 7q33 delta 4-3-ketosteroid-5-beta-reductase ClinVar:AKR1D1 Ensembl:ENSG00000122787 Genatlas:AKR1D1 HGNC:388 OMIM:604741 Reactome:P51857 SwissProt:P51857 AKR1D1 aldo-keto reductase family 1 member D1 2p16.1 BCL11A-L BCL11A-S BCL11A-XL CTIP1 HBFQTL5 SMARCM1 ZNF856 ClinVar:BCL11A Ensembl:ENSG00000119866 Genatlas:BCL11A HGNC:13221 OMIM:606557 SwissProt:Q9H165 BCL11A BCL11 transcription factor A 2q14.3 AMPH2 Myc box-dependent-interacting protein 1 SH3P9 amphiphysin 2 amphiphysin II ClinVar:BIN1 Ensembl:ENSG00000136717 Genatlas:BIN1 HGNC:1052 OMIM:601248 Reactome:O00499 SwissProt:O00499 BIN1 bridging integrator 1 20q11.22 SNF7-2 Shax1 VPS32B dJ553F4.4 ClinVar:CHMP4B Ensembl:ENSG00000101421 Genatlas:CHMP4B HGNC:16171 OMIM:610897 Reactome:Q9H444 SwissProt:Q9H444 CHMP4B charged multivesicular body protein 4B 19q13.32 RAD10 ClinVar:ERCC1 Ensembl:ENSG00000012061 Genatlas:ERCC1 HGNC:3433 OMIM:126380 Reactome:P07992 SwissProt:P07992 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit 12p13.2 TEL TEL oncogene ClinVar:ETV6 Ensembl:ENSG00000139083 Genatlas:ETV6 HGNC:3495 OMIM:600618 Reactome:P41212 SwissProt:P41212 ETV6 ETS variant transcription factor 6 19q13.41 EMSP EMSP1 KLK-L1 PSTS enamel matrix serine proteinase 1 ClinVar:KLK4 Ensembl:ENSG00000167749 Genatlas:KLK4 HGNC:6365 IUPHAR:2374 OMIM:603767 SwissProt:Q9Y5K2 KLK4 kallikrein related peptidase 4 15q26.1 SCDO2 bHLHc6 ClinVar:MESP2 Ensembl:ENSG00000188095 Genatlas:MESP2 HGNC:29659 OMIM:605195 SwissProt:Q0VG99 MESP2 mesoderm posterior bHLH transcription factor 2 11q22.2 enamelysin ClinVar:MMP20 Ensembl:ENSG00000137674 Genatlas:MMP20 HGNC:7167 IUPHAR:1643 OMIM:604629 Reactome:O60882 SwissProt:O60882 MMP20 matrix metallopeptidase 20 3p25.3 FLJ22405 FLJ90311 egg-derived tyrosine phosphatase homolog (Drosophila) hEDTP hJumpy ClinVar:MTMR14 Ensembl:ENSG00000163719 Genatlas:MTMR14 HGNC:26190 OMIM:611089 Reactome:Q8NCE2 SwissProt:Q8NCE2 MTMR14 myotubularin related protein 14 17p13 CARD7 CLR17.1 DEFCAP DKFZp586O1822 KIAA0926 NAC VAMAS1 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 ClinVar:NLRP1 Ensembl:ENSG00000091592 Genatlas:NLRP1 HGNC:14374 IUPHAR:1768 OMIM:606636 Reactome:Q9C000 SwissProt:Q9C000 NLRP1 NLR family pyrin domain containing 1 Xq24 CI-MWFE MWFE NADH:ubiquinone oxidoreductase (complex 1) complex I MWFE subunit type I dehydrogenase ClinVar:NDUFA1 Ensembl:ENSG00000125356 Genatlas:NDUFA1 HGNC:7683 OMIM:300078 Reactome:O15239 SwissProt:O15239 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 16p12.2 FANCN FLJ21816 Fanconi anemia, complementation group N ClinVar:PALB2 Ensembl:ENSG00000083093 Genatlas:PALB2 HGNC:26144 OMIM:610355 Reactome:Q86YC2 SwissProt:Q86YC2 PALB2 partner and localizer of BRCA2 17q11.2 HCP1 HsPCFT MGC9564 PCFT hPCFT heme carrier protein 1 proton-coupled folate transporter ClinVar:SLC46A1 Ensembl:ENSG00000076351 Genatlas:SLC46A1 HGNC:30521 IUPHAR:1213 OMIM:611672 Reactome:Q96NT5 SwissProt:Q96NT5 SLC46A1 solute carrier family 46 member 1 6q15 CMP-Sia-Tr CMP-sialic acid transporter CMPST hCST ClinVar:SLC35A1 Ensembl:ENSG00000164414 Genatlas:SLC35A1 HGNC:11021 IUPHAR:1138 OMIM:605634 Reactome:P78382 SwissProt:P78382 SLC35A1 solute carrier family 35 member A1 Xq13.1 DYT3/TAF1 KAT4 NSCL2 TAFII250 ClinVar:TAF1 Ensembl:ENSG00000147133 Genatlas:TAF1 HGNC:11535 IUPHAR:2231 OMIM:313650 Reactome:P21675 SwissProt:P21675 TAF1 TATA-box binding protein associated factor 1 9q32 CIP98 PDZD7B USH2D ClinVar:DFNB31 Ensembl:ENSG00000095397 Genatlas:DFNB31 HGNC:16361 OMIM:607928 Reactome:Q9P202 SwissProt:Q9P202 WHRN whirlin Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. Orphanet ICD-10:Q87.8 ICD-11:LD24.H MeSH:C562538 MedDRA:10088264 OMIM:117650 UMLS:C0265342 Autosomal dominant Autosomal recessive Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 75.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1393 Cerebrocostomandibular syndrome ORPHA:1393 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.H - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562538 E (Exact mapping: the two concepts are equivalent) MedDRA:10088264 E (Exact mapping: the two concepts are equivalent) OMIM:117650 E (Exact mapping: the two concepts are equivalent) UMLS:C0265342 E (Exact mapping: the two concepts are equivalent) OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 OBSOLETE: NADH-diaphorase deficiency type 1 OBSOLETE: Recessive congenital methemoglobinemia type 1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary methemoglobinemia OBSOLETE: Recessive hereditary methemoglobinemia type 1 ORPHA:139373 OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 OBSOLETE: NADH-diaphorase deficiency type 2 OBSOLETE: Recessive congenital methemoglobinemia type 2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary methemoglobinemia OBSOLETE: Recessive hereditary methemoglobinemia type 2 ORPHA:139380 Isolated craniosynostosis https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139390 Non-syndromic craniosynostosis Clinical group ORPHA:139390 UMLS:C5680624 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139393 Syndromic craniosynostosis Category ORPHA:139393 UMLS:C5680624 E (Exact mapping: the two concepts are equivalent) X-CALD A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade. Orphanet ICD-10:E71.3 ICD-11:5C57.1 OMIM:300100 UMLS:C2026514 X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype ORPHA:139396 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2026514 E (Exact mapping: the two concepts are equivalent) A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood. Orphanet ICD-10:E71.3 ICD-11:5C57.1 OMIM:300100 UMLS:C1527231 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype ORPHA:139399 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1527231 E (Exact mapping: the two concepts are equivalent) Pascual-Castroviejo syndrome type 1 Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. Orphanet ICD-10:Q87.5 ICD-11:LD24.H MeSH:C565862 OMIM:213980 OMIM:616994 UMLS:C1859252 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1394 Cerebrofaciothoracic dysplasia ORPHA:1394 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.H - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565862 E (Exact mapping: the two concepts are equivalent) OMIM:213980 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616994 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1859252 E (Exact mapping: the two concepts are equivalent) DRESS syndrome Drug rash with eosinophilia and systemic symptoms A rare hypersensitivity reaction characterized by a generalized infiltrated skin rash with face edema, fever, enlarged lymph nodes, eosinophilia, lymphocytosis and more or less severe visceral involvement (e.g. hepatitis, nephritis, pneumonitis, myocarditis ect.) and, in some patients, reactivation of human herpes virus 6, Epstein-Barr virus and/or cytomegalovirus. Onset usually occurs 2-8 weeks after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides and allopurinol but many other medications have also been implicated. Histology is characterized by interface dermatitis, sometimes mixed with eczematous and an acute generalized exanthematous pustulosis-like pattern. Auto-immune sequelae may occur. Orphanet ICD-10:T78.4 ICD-11:EH65 MedDRA:10073508 UMLS:C3541994 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139402 Drug reaction with eosinophilia and systemic symptoms ORPHA:139402 ICD-10:T78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EH65 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10073508 E (Exact mapping: the two concepts are equivalent) UMLS:C3541994 E (Exact mapping: the two concepts are equivalent) Combined prosaposin deficiency A lysosomal storage disease belonging to the group of sphingolipidoses. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y OMIM:611721 UMLS:C4303785 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139406 Encephalopathy due to prosaposin deficiency ORPHA:139406 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611721 E (Exact mapping: the two concepts are equivalent) UMLS:C4303785 E (Exact mapping: the two concepts are equivalent) A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. Orphanet ICD-10:D44.8 ICD-11:2F7A.0 MeSH:C565803 OMIM:604287 UMLS:C1858592 Adolescent Adult Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139411 Carney triad ORPHA:139411 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565803 E (Exact mapping: the two concepts are equivalent) OMIM:604287 E (Exact mapping: the two concepts are equivalent) UMLS:C1858592 E (Exact mapping: the two concepts are equivalent) Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. Orphanet ICD-10:I78.1 UMLS:C4476799 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139414 Congenital panfollicular nevus ORPHA:139414 ICD-10:I78.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4476799 E (Exact mapping: the two concepts are equivalent) A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). Orphanet ICD-10:G37.3 ICD-11:8A41.0 UMLS:C0270627 Adolescent Adult Childhood Elderly Infancy United States AND has_annual_incidence_average_value : 8.6 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 4.72 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139417 Acute transverse myelitis ORPHA:139417 ICD-10:G37.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0270627 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Disease-associated transverse myelitis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acute transverse myelitis OBSOLETE: Secondary acute transverse myelitis ORPHA:139420 A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. Orphanet ICD-10:G37.3 ICD-11:8A41.0 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139423 Idiopathic acute transverse myelitis Clinical subtype ORPHA:139423 ICD-10:G37.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). POMA A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. Orphanet ICD-10:G40.4 ICD-11:8A61.2Y UMLS:C4707846 Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139426 Perioral myoclonia with absences ORPHA:139426 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707846 E (Exact mapping: the two concepts are equivalent) EMA EMEA Eyelid myoclonia with and without absences Jeavons syndrome A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. Orphanet ICD-10:G40.3 ICD-11:8A61.2Y MedDRA:10084303 UMLS:C4274731 Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139431 Epilepsy with eyelid myoclonia ORPHA:139431 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10084303 E (Exact mapping: the two concepts are equivalent) UMLS:C4274731 E (Exact mapping: the two concepts are equivalent) Giant cell histiocytomatosis Lipoid dermatoarthritis A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis. Orphanet ICD-10:D76.3 ICD-11:EE8Y MedDRA:10070595 UMLS:C0311284 Not applicable Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139436 Multicentric reticulohistiocytosis ORPHA:139436 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10070595 E (Exact mapping: the two concepts are equivalent) UMLS:C0311284 E (Exact mapping: the two concepts are equivalent) H-ABC A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Orphanet ICD-10:E75.2 ICD-11:8A44.3 OMIM:612438 OMIM:617899 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139441 Hypomyelination with atrophy of basal ganglia and cerebellum ORPHA:139441 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612438 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617899 BTNT (ORPHAcode is broader than the targeted code used to represent it) A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested. Orphanet ICD-10:E75.2 ICD-11:8A44.3 UMLS:C4304744 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts ORPHA:139444 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304744 E (Exact mapping: the two concepts are equivalent) A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. Orphanet ICD-10:E75.2 ICD-11:8A44.3 UMLS:C4304840 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139447 Progressive cavitating leukoencephalopathy ORPHA:139447 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304840 E (Exact mapping: the two concepts are equivalent) Balikova-Vermeesch syndrome This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Orphanet ICD-10:Q13.8 OMIM:611863 UMLS:C4518464 Autosomal dominant No data available Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome ORPHA:139450 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:611863 E (Exact mapping: the two concepts are equivalent) UMLS:C4518464 E (Exact mapping: the two concepts are equivalent) Retinopathy, Burgess-Black type A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). Orphanet ICD-10:H35.5 ICD-11:9B71.Y OMIM:611809 UMLS:C3888198 Autosomal recessive All ages Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139455 Autosomal recessive bestrophinopathy ORPHA:139455 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611809 E (Exact mapping: the two concepts are equivalent) UMLS:C3888198 E (Exact mapping: the two concepts are equivalent) Sex reversion-kidneys, adrenal and lung dysgenesis syndrome SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Orphanet ICD-10:Q87.8 MeSH:C567517 OMIM:611812 UMLS:C2678492 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139466 SERKAL syndrome ORPHA:139466 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567517 E (Exact mapping: the two concepts are equivalent) OMIM:611812 E (Exact mapping: the two concepts are equivalent) UMLS:C2678492 E (Exact mapping: the two concepts are equivalent) Bakrania-Ragge syndrome MCOPS6 Syndromic microphthalmia type 6 Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the <I> BMP4</I> gene, which has already been shown to play a role in eye development. Orphanet ICD-10:Q11.2 MeSH:C566440 OMIM:607932 UMLS:C1864689 Antenatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139471 Microphthalmia with brain and digit anomalies ORPHA:139471 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566440 E (Exact mapping: the two concepts are equivalent) OMIM:607932 E (Exact mapping: the two concepts are equivalent) UMLS:C1864689 E (Exact mapping: the two concepts are equivalent) Dup(17)(q11.2) Grisart-Destrée syndrome Trisomy 17q11.2 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. Orphanet ICD-10:Q92.3 ICD-11:LD41.G0 OMIM:618874 UMLS:C3495679 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139474 17q11.2 microduplication syndrome ORPHA:139474 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:618874 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3495679 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to SRD5A3-CDG Al-Gazali-Dattani syndrome ORPHA:139477 SPG39 Spastic paraplegia due to NTE mutation Spastic paraplegia due to neuropathy target esterase mutation A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C567433 OMIM:612020 UMLS:C2677586 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139480 Autosomal recessive spastic paraplegia type 39 ORPHA:139480 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567433 E (Exact mapping: the two concepts are equivalent) OMIM:612020 E (Exact mapping: the two concepts are equivalent) UMLS:C2677586 E (Exact mapping: the two concepts are equivalent) ARCA2 Autosomal recessive ataxia due to coenzyme Q10 deficiency Autosomal recessive cerebellar ataxia type 2 Autosomal recessive spinocerebellar ataxia type 9 SCAR9 This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. Orphanet ICD-10:G11.1 ICD-11:LD90.Y MeSH:C567436 OMIM:612016 OMIM:619028 UMLS:C2677589 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 31.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567436 E (Exact mapping: the two concepts are equivalent) OMIM:612016 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619028 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2677589 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Autosomal dominant hereditary hemochromatosis OBSOLETE: Ferroportin disease OBSOLETE: Hemochromatosis due to defect in ferroportin This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using SLC40A1-related hemochromatosis OBSOLETE: Hemochromatosis type 4 ORPHA:139491 NON RARE IN EUROPE: C282Y/C282Y hemochromatosis NON RARE IN EUROPE: Classic hemochromatosis NON RARE IN EUROPE: HFE-related hemochromatosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hemochromatosis type 1 ORPHA:139498 African iron overload Bantu siderosis A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis. Orphanet ICD-10:E83.1 ICD-11:5C64.10 MeSH:C537904 MedDRA:10083862 OMIM:601195 UMLS:C0268063 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139507 Dietary iron overload disease ORPHA:139507 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537904 E (Exact mapping: the two concepts are equivalent) MedDRA:10083862 E (Exact mapping: the two concepts are equivalent) OMIM:601195 E (Exact mapping: the two concepts are equivalent) UMLS:C0268063 E (Exact mapping: the two concepts are equivalent) This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. Orphanet ICD-10:G60.8 ICD-11:LD2H.1 UMLS:C4509933 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139512 Neuropathy with hearing impairment ORPHA:139512 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4509933 E (Exact mapping: the two concepts are equivalent) CMT4J Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C566984 OMIM:611228 UMLS:C1970011 Autosomal recessive Adult Childhood Infancy Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139515 Charcot-Marie-Tooth disease type 4J ORPHA:139515 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566984 E (Exact mapping: the two concepts are equivalent) OMIM:611228 E (Exact mapping: the two concepts are equivalent) UMLS:C1970011 E (Exact mapping: the two concepts are equivalent) Autosomal dominant distal juvenile spinal muscular atrophy type 1 dHMN1 Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. Orphanet ICD-10:G12.2 ICD-11:8B61.4 MeSH:C566675 OMIM:182960 UMLS:C1866784 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139518 Distal hereditary motor neuropathy type 1 ORPHA:139518 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566675 E (Exact mapping: the two concepts are equivalent) OMIM:182960 E (Exact mapping: the two concepts are equivalent) UMLS:C1866784 E (Exact mapping: the two concepts are equivalent) Distal spinal muscular atrophy type 2 dHMN2 dSMA2 A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. Orphanet ICD-10:G12.2 ICD-11:8B61.4 OMIM:158590 OMIM:608634 OMIM:613376 OMIM:615575 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139525 Distal hereditary motor neuropathy type 2 ORPHA:139525 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:158590 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608634 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615575 BTNT (ORPHAcode is broader than the targeted code used to represent it) Distal HMN V Distal hereditary motor neuropathy type V Distal spinal muscular atrophy type 5 dHMN5 A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life. Orphanet ICD-10:G12.2 ICD-11:8B61.4 MeSH:C563443 OMIM:600794 OMIM:614751 OMIM:619112 UMLS:C1833308 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139536 Distal hereditary motor neuropathy type 5 ORPHA:139536 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563443 E (Exact mapping: the two concepts are equivalent) OMIM:600794 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614751 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619112 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1833308 E (Exact mapping: the two concepts are equivalent) Autosomal recessive distal spinal muscular atrophy type 3 Distal hereditary motor neuropathy type 3 and type 4 dHMN3 and dHMN4 dSMA3 Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. Orphanet ICD-10:G12.2 ICD-11:8B61.4 MeSH:C564626 OMIM:607088 UMLS:C1846823 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139547 Distal spinal muscular atrophy type 3 ORPHA:139547 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564626 E (Exact mapping: the two concepts are equivalent) OMIM:607088 E (Exact mapping: the two concepts are equivalent) UMLS:C1846823 E (Exact mapping: the two concepts are equivalent) Autosomal recessive distal spinal muscular atrophy type 2 dHMNJ A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset). Orphanet ICD-10:G12.2 ICD-11:8B61.4 MeSH:C535715 OMIM:605726 UMLS:C1854023 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139552 Distal hereditary motor neuropathy, Jerash type ORPHA:139552 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535715 E (Exact mapping: the two concepts are equivalent) OMIM:605726 E (Exact mapping: the two concepts are equivalent) UMLS:C1854023 E (Exact mapping: the two concepts are equivalent) ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. Orphanet ICD-10:G12.2 MeSH:C564506 OMIM:300489 UMLS:C1845359 X-linked recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139557 X-linked distal spinal muscular atrophy type 3 ORPHA:139557 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564506 E (Exact mapping: the two concepts are equivalent) OMIM:300489 E (Exact mapping: the two concepts are equivalent) UMLS:C1845359 E (Exact mapping: the two concepts are equivalent) HSAN with cough and gastroesophageal reflux HSAN1B Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux Hereditary sensory and autonomic neuropathy type IB Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). Orphanet ICD-10:G60.8 ICD-11:8C21.0 MeSH:C564296 OMIM:608088 UMLS:C1842586 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139564 Hereditary sensory and autonomic neuropathy type 1B ORPHA:139564 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C564296 E (Exact mapping: the two concepts are equivalent) OMIM:608088 E (Exact mapping: the two concepts are equivalent) UMLS:C1842586 E (Exact mapping: the two concepts are equivalent) HSAN with deafness and global delay HSAN with hearing loss and global delay Hereditary sensory and autonomic neuropathy with hearing loss and global delay This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. Orphanet ICD-10:G60.8 ICD-11:8C21.Y UMLS:C4303566 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139573 Hereditary sensory and autonomic neuropathy with deafness and global delay ORPHA:139573 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303566 E (Exact mapping: the two concepts are equivalent) Mutilating HSAN with spastic paraplegia A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. Orphanet ICD-10:G60.8 OMIM:256840 UMLS:C5679610 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139578 Mutilating hereditary sensory neuropathy with spastic paraplegia ORPHA:139578 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:256840 E (Exact mapping: the two concepts are equivalent) UMLS:C5679610 E (Exact mapping: the two concepts are equivalent) X-linked HSAN with deafness X-linked HSAN with hearing loss X-linked auditory neuropathy with peripheral sensory neuropathy type 1 X-linked hereditary sensory and autonomic neuropathy with hearing loss A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. Orphanet ICD-10:G60.8 ICD-11:8C21.Y OMIM:300614 UMLS:C4304400 X-linked recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139583 X-linked hereditary sensory and autonomic neuropathy with deafness ORPHA:139583 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300614 E (Exact mapping: the two concepts are equivalent) UMLS:C4304400 E (Exact mapping: the two concepts are equivalent) Distal spinal muscular atrophy with vocal cord paralysis dHMN7 A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. Orphanet ICD-10:G12.2 ICD-11:8B61.4 OMIM:158580 OMIM:607641 UMLS:C4749653 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=139589 Distal hereditary motor neuropathy type 7 ORPHA:139589 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:158580 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607641 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749653 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Meckel syndrome OBSOLETE: Cerebrorenodigital syndrome ORPHA:1396 A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q04.3 OMIM:307010 UMLS:C5680635 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1397 Hydrocephaly-cerebellar agenesis syndrome ORPHA:1397 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:307010 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680635 E (Exact mapping: the two concepts are equivalent) 16q24.3 MSH-R alpha melanocyte stimulating hormone receptor ClinVar:MC1R Ensembl:ENSG00000258839 Genatlas:MC1R HGNC:6929 IUPHAR:282 OMIM:155555 Reactome:Q01726 SwissProt:Q01726 MC1R melanocortin 1 receptor 22q12.3 FLJ30744 MT2 matriptase-2 ClinVar:TMPRSS6 Ensembl:ENSG00000187045 Genatlas:TMPRSS6 HGNC:16517 IUPHAR:2422 OMIM:609862 Reactome:Q8IU80 SwissProt:Q8IU80 TMPRSS6 transmembrane serine protease 6 21q21 HGNC:12599 USH1E Usher syndrome 1E (autosomal recessive, severe) Near total absence of cerebellum Subtotal absence of cerebellum A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability. Orphanet ICD-10:Q04.3 MedDRA:10008033 UMLS:C5679606 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1398 Isolated cerebellar agenesis ORPHA:1398 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10008033 E (Exact mapping: the two concepts are equivalent) UMLS:C5679606 E (Exact mapping: the two concepts are equivalent) 8q24.3 FLJ46072 ClinVar:FAM83H Ensembl:ENSG00000180921 Genatlas:FAM83H HGNC:24797 OMIM:611927 Reactome:Q6ZRV2 SwissProt:Q6ZRV2 FAM83H family with sequence similarity 83 member H 22q13.31 FBLN ClinVar:FBLN1 Ensembl:ENSG00000077942 Genatlas:FBLN1 HGNC:3600 OMIM:135820 Reactome:P23142 SwissProt:P23142 FBLN1 fibulin 1 Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. Orphanet ICD-10:G60.2 ICD-11:LD2H.Y MeSH:C535674 OMIM:245100 UMLS:C0796136 Autosomal recessive Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1399 Richards-Rundle syndrome ORPHA:1399 ICD-10:G60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535674 E (Exact mapping: the two concepts are equivalent) OMIM:245100 E (Exact mapping: the two concepts are equivalent) UMLS:C0796136 E (Exact mapping: the two concepts are equivalent) 1p35.1 YRS YTS tyrRS tyrosine tRNA ligase 1, cytoplasmic ClinVar:YARS Ensembl:ENSG00000134684 Genatlas:YARS HGNC:12840 OMIM:603623 Reactome:P54577 SwissProt:P54577 YARS1 tyrosyl-tRNA synthetase 1 Bassen-Kornzweig disease Homozygous familial hypobetalipoproteinemia A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. Orphanet ICD-10:E78.6 ICD-11:5C81.1 MeSH:D000012 MedDRA:10083851 OMIM:200100 OMIM:605019 OMIM:615558 UMLS:C0000744 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=14 Abetalipoproteinemia ORPHA:14 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000012 E (Exact mapping: the two concepts are equivalent) MedDRA:10083851 E (Exact mapping: the two concepts are equivalent) OMIM:200100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605019 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615558 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0000744 E (Exact mapping: the two concepts are equivalent) Campomelic dwarfism A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Orphanet ICD-10:Q87.1 ICD-11:LD2A.Y MeSH:D055036 OMIM:114290 OMIM:211990 OMIM:602196 UMLS:C1861922 Autosomal dominant Antenatal Neonatal Worldwide AND has_birth_prevalence_average_value : 1.875 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.0E-4 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140 Campomelic dysplasia ORPHA:140 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D055036 E (Exact mapping: the two concepts are equivalent) OMIM:114290 E (Exact mapping: the two concepts are equivalent) OMIM:211990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602196 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1861922 E (Exact mapping: the two concepts are equivalent) Xp11.3 CFAP124 POC20 POC20 centriolar protein homolog (Chlamydomonas) UBA1, ubiquitin-activating enzyme E1 homolog (yeast) UBE1X ClinVar:UBA1 Ensembl:ENSG00000130985 Genatlas:UBA1 HGNC:12469 OMIM:314370 Reactome:P22314 SwissProt:P22314 UBA1 ubiquitin like modifier activating enzyme 1 5p13.1 OSMRB OSMRbeta Oncostatin-M-specific receptor subunit beta ClinVar:OSMR Ensembl:ENSG00000145623 Genatlas:OSMR HGNC:8507 IUPHAR:1714 OMIM:601743 Reactome:Q99650 SwissProt:Q99650 OSMR oncostatin M receptor Xq26.3 FHL1B FLH1A Four-and-a-half LIM domains 1 KYO-T LIM protein SLIMMER MGC111107 SLIM1 XMPMA bA535K18.1 ClinVar:FHL1 Ensembl:ENSG00000022267 Genatlas:FHL1 HGNC:3702 OMIM:300163 Reactome:Q13642 SwissProt:Q13642 FHL1 four and a half LIM domains 1 14q22.2 ClinVar:BMP4 Ensembl:ENSG00000125378 Genatlas:BMP4 HGNC:1071 OMIM:112262 Reactome:P12644 SwissProt:P12644 BMP4 bone morphogenetic protein 4 14q12 TIN2 ClinVar:TINF2 Ensembl:ENSG00000092330 Genatlas:TINF2 HGNC:11824 OMIM:604319 Reactome:Q9BSI4 SwissProt:Q9BSI4 TINF2 TERF1 interacting nuclear factor 2 1q42.13 COQ8 SCAR9 coenzyme Q8 homolog (yeast) ClinVar:ADCK3 Ensembl:ENSG00000163050 Genatlas:ADCK3 HGNC:16812 IUPHAR:1927 OMIM:606980 Reactome:Q8NI60 SwissProt:Q8NI60 COQ8A coenzyme Q8A 10q23.31 CRT2 MCT12 creatine transporter 2 monocarboxylic acid transporter 12 ClinVar:SLC16A12 Ensembl:ENSG00000152779 Genatlas:SLC16A12 HGNC:23094 IUPHAR:999 OMIM:611910 SwissProt:Q6ZSM3 SLC16A12 solute carrier family 16 member 12 2p13.1 p150 glued homolog (Drosophila) ClinVar:DCTN1 Ensembl:ENSG00000204843 Genatlas:DCTN1 HGNC:2711 OMIM:601143 Reactome:Q14203 SwissProt:Q14203 DCTN1 dynactin subunit 1 3q23 C3orf5 GIBT GK002 MRP-S22 mS22 ClinVar:MRPS22 Ensembl:ENSG00000175110 Genatlas:MRPS22 HGNC:14508 OMIM:605810 Reactome:P82650 SwissProt:P82650 MRPS22 mitochondrial ribosomal protein S22 17q11.2 MGC13061 riplet ClinVar:RNF135 Ensembl:ENSG00000181481 Genatlas:RNF135 HGNC:21158 OMIM:611358 Reactome:Q8IUD6 SwissProt:Q8IUD6 RNF135 ring finger protein 135 Baughman syndrome CHANDS Curly hair-ankyloblepharon-nail dysplasia syndrome A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C538074 OMIM:214350 UMLS:C0406733 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1401 CHAND syndrome ORPHA:1401 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538074 E (Exact mapping: the two concepts are equivalent) OMIM:214350 E (Exact mapping: the two concepts are equivalent) UMLS:C0406733 E (Exact mapping: the two concepts are equivalent) UMLS:C5680672 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140162 Inherited cancer-predisposing syndrome Category ORPHA:140162 UMLS:C5680672 E (Exact mapping: the two concepts are equivalent) ICD-10:E20.8 ICD-11:5A50.01 UMLS:C4305428 Not applicable Adolescent Adult Childhood Elderly Denmark AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_range : Unknown Europe AND has_point_prevalence_average_value : 24.75 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140286 Secondary hypoparathyroidism due to impaired parathormon secretion ORPHA:140286 ICD-10:E20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4305428 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Hereditary iron overload with neurologic manifestation ORPHA:140428 OBSOLETE: Hereditary iron overload with anemia ORPHA:140432 Intraosseous hemangioma Osseous venous malformation Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting. Orphanet ICD-10:D18.0 MeSH:C564648 OMIM:606893 UMLS:C1847197 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140436 Primary intraosseous venous malformation ORPHA:140436 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564648 E (Exact mapping: the two concepts are equivalent) OMIM:606893 E (Exact mapping: the two concepts are equivalent) UMLS:C1847197 E (Exact mapping: the two concepts are equivalent) OBSOLETE: HMSN This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy OBSOLETE: Hereditary motor and sensory neuropathy ORPHA:140450 UMLS:C5680673 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy Category ORPHA:140453 UMLS:C5680673 E (Exact mapping: the two concepts are equivalent) UMLS:C5680676 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140456 Autosomal dominant hereditary axonal motor and sensory neuropathy Category ORPHA:140456 UMLS:C5680676 E (Exact mapping: the two concepts are equivalent) UMLS:C5680677 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy Category ORPHA:140459 UMLS:C5680677 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using X-linked Charcot-Marie-Tooth disease OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy ORPHA:140462 Autosomal dominant dHMN Autosomal dominant distal spinal muscular atrophy UMLS:C5548212 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140465 Autosomal dominant distal hereditary motor neuropathy Category ORPHA:140465 UMLS:C5548212 E (Exact mapping: the two concepts are equivalent) Autosomal recessive dHMN Autosomal recessive dSMA Autosomal recessive distal spinal muscular atrophy OMIM:604320 OMIM:605726 OMIM:607088 OMIM:611067 OMIM:614881 OMIM:620011 UMLS:C5548369 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140468 Autosomal recessive distal hereditary motor neuropathy Category ORPHA:140468 OMIM:604320 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605726 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607088 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611067 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614881 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620011 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5548369 E (Exact mapping: the two concepts are equivalent) HSAN ICD-11:8C21 MeSH:D009477 UMLS:C0027889 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140471 Hereditary sensory and autonomic neuropathy Clinical group ORPHA:140471 ICD-11:8C21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009477 E (Exact mapping: the two concepts are equivalent) UMLS:C0027889 E (Exact mapping: the two concepts are equivalent) UMLS:C5680674 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140474 Autosomal dominant hereditary sensory and autonomic neuropathy Category ORPHA:140474 UMLS:C5680674 E (Exact mapping: the two concepts are equivalent) UMLS:C5680675 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140477 Autosomal recessive hereditary sensory and autonomic neuropathy Category ORPHA:140477 UMLS:C5680675 E (Exact mapping: the two concepts are equivalent) A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the <i>ARGHEF10</i> gene. Orphanet ICD-10:G60.0 MeSH:C564269 OMIM:608236 UMLS:C1842357 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140481 Autosomal dominant slowed nerve conduction velocity ORPHA:140481 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564269 E (Exact mapping: the two concepts are equivalent) OMIM:608236 E (Exact mapping: the two concepts are equivalent) UMLS:C1842357 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Neurological channelopathy ORPHA:140500 OBSOLETE: Channelopathy ORPHA:140503 mitochondria trnE ClinVar:MT-TE Ensembl:ENSG00000210194 Genatlas:MT-TE HGNC:7479 OMIM:590025 MT-TE mitochondrially encoded tRNA-Glu (GAA/G) 6q14.1 ClinVar:LCA5 Ensembl:ENSG00000135338 Genatlas:LCA5 HGNC:31923 OMIM:611408 Reactome:Q86VQ0 SwissProt:Q86VQ0 LCA5 lebercilin LCA5 16q12.2 CORS3 FTM JBTS7 KIAA1005 MKS5 Meckel syndrome, type 5 NPHP8 PPP1R134 fantom homolog protein phosphatase 1, regulatory subunit 134 ClinVar:RPGRIP1L Ensembl:ENSG00000103494 Genatlas:RPGRIP1L HGNC:29168 OMIM:610937 Reactome:Q68CZ1 SwissProt:Q68CZ1 RPGRIP1L RPGRIP1 like 16p13.3 ABC-C EST111653 LBM180 ClinVar:ABCA3 Ensembl:ENSG00000167972 Genatlas:ABCA3 HGNC:33 IUPHAR:758 OMIM:601615 Reactome:Q99758 SwissProt:Q99758 ABCA3 ATP binding cassette subfamily A member 3 16q23.2 c-MAF ClinVar:MAF Ensembl:ENSG00000178573 Genatlas:MAF HGNC:6776 OMIM:177075 SwissProt:O75444 MAF MAF bZIP transcription factor A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes(OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactylyl and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Orphanet ICD-10:Q87.0 ICD-11:LD25.0Y UMLS:C4518555 Not applicable Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1406 Charlie M syndrome ORPHA:1406 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518555 E (Exact mapping: the two concepts are equivalent) UMLS:C5680678 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140653 Neuro-ophthalmological disease Category ORPHA:140653 UMLS:C5680678 E (Exact mapping: the two concepts are equivalent) Calderón-González-Cantu syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy OMIM:234030 UMLS:C1856241 Hair defect-photosensitivity-intellectual disability syndrome ORPHA:1408 OMIM:234030 E (Exact mapping: the two concepts are equivalent) UMLS:C1856241 E (Exact mapping: the two concepts are equivalent) JSRD Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. Orphanet UMLS:C5679612 Autosomal recessive X-linked recessive Infancy Neonatal Netherlands AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 North America AND has_point_prevalence_average_value : 666.67 AND has_point_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140874 Joubert syndrome and related disorders Category ORPHA:140874 UMLS:C5679612 E (Exact mapping: the two concepts are equivalent) SARS SARS-1 A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam). Orphanet ICD-10:U04.9 ICD-11:1D65 MeSH:D045169 MedDRA:10061982 UMLS:C1175175 Not applicable All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140896 Severe acute respiratory syndrome ORPHA:140896 ICD-10:U04.9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D65 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D045169 E (Exact mapping: the two concepts are equivalent) MedDRA:10061982 E (Exact mapping: the two concepts are equivalent) UMLS:C1175175 E (Exact mapping: the two concepts are equivalent) Salamon syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woolly hair MeSH:C536746 OMIM:278200 UMLS:C0406718 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome ORPHA:1409 MeSH:C536746 E (Exact mapping: the two concepts are equivalent) OMIM:278200 E (Exact mapping: the two concepts are equivalent) UMLS:C0406718 E (Exact mapping: the two concepts are equivalent) Hyperlipidemia due to HL deficiency Hyperlipidemia due to HTGL deficiency Hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triglyceride lipase deficiency A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. Orphanet ICD-10:E78.4 OMIM:614025 UMLS:C3151466 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency ORPHA:140905 ICD-10:E78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614025 E (Exact mapping: the two concepts are equivalent) UMLS:C3151466 E (Exact mapping: the two concepts are equivalent) A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 OMIM:611377 UMLS:C1969652 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140908 Brachydactyly type B2 Clinical subtype ORPHA:140908 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611377 E (Exact mapping: the two concepts are equivalent) UMLS:C1969652 E (Exact mapping: the two concepts are equivalent) Teunissen-Cremers syndrome Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:184460 UMLS:C1866656 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140917 Stapes ankylosis with broad thumbs and toes ORPHA:140917 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:184460 E (Exact mapping: the two concepts are equivalent) UMLS:C1866656 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2J LGMD type 2J LGMD2J Limb-girdle muscular dystrophy type 2J Titin-related LGMD R10 A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Orphanet ICD-10:G71.0 MeSH:C563854 OMIM:608807 UMLS:C1837342 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140922 Titin-related limb-girdle muscular dystrophy R10 ORPHA:140922 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563854 E (Exact mapping: the two concepts are equivalent) OMIM:608807 E (Exact mapping: the two concepts are equivalent) UMLS:C1837342 E (Exact mapping: the two concepts are equivalent) BFNIS Benign familial neonatal-infantile seizures Benign neonatal-infantile epilepsy SeLFNIE Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the <i>SCN2A</i> gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. Orphanet ICD-10:G40.4 OMIM:607745 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140927 Self-limited neonatal-infantile epilepsy ORPHA:140927 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607745 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene. Orphanet ICD-10:L90.8 ICD-11:EB61.Y UMLS:C1274753 Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140933 Linear atrophoderma of Moulin ORPHA:140933 ICD-10:L90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1274753 E (Exact mapping: the two concepts are equivalent) Ectodermal dysplasia-acanthosis nigricans syndrome Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C564261 OMIM:608290 UMLS:C1842307 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140936 Lelis syndrome ORPHA:140936 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564261 E (Exact mapping: the two concepts are equivalent) OMIM:608290 E (Exact mapping: the two concepts are equivalent) UMLS:C1842307 E (Exact mapping: the two concepts are equivalent) Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Orphanet ICD-10:E34.3 ICD-11:5A61.0 OMIM:615961 UMLS:C4303612 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140941 Short stature due to primary acid-labile subunit deficiency ORPHA:140941 ICD-10:E34.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615961 E (Exact mapping: the two concepts are equivalent) UMLS:C4303612 E (Exact mapping: the two concepts are equivalent) Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C567863 OMIM:612918 UMLS:C2752042 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140944 CLOVES syndrome ORPHA:140944 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567863 E (Exact mapping: the two concepts are equivalent) OMIM:612918 E (Exact mapping: the two concepts are equivalent) UMLS:C2752042 E (Exact mapping: the two concepts are equivalent) A rare urogenital condition characterized by a persistent unwanted painful erection that lasts more than 4 hours, caused by obstruction of the normal drainage of blood from the erectile tissues, leading to ischemia. It may be due to hematological diseases, metabolic or neurological disorders, and some erectile dysfunction medications. If the condition continues for several days, abnormal thickening and scarring of the erectile tissue may develop, causing permanent erectile dysfunction. Orphanet ICD-10:N48.3 ICD-11:GB06.1 UMLS:C2711256 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140949 Low-flow priapism ORPHA:140949 ICD-10:N48.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB06.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2711256 E (Exact mapping: the two concepts are equivalent) STAR syndrome A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C567475 OMIM:300707 UMLS:C2678045 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567475 E (Exact mapping: the two concepts are equivalent) OMIM:300707 E (Exact mapping: the two concepts are equivalent) UMLS:C2678045 E (Exact mapping: the two concepts are equivalent) A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. Orphanet ICD-10:D69.4 OMIM:187800 OMIM:613112 OMIM:615193 OMIM:619271 OMIM:619840 UMLS:C4304021 Autosomal dominant Adolescent Adult Childhood Elderly Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140957 Autosomal dominant macrothrombocytopenia ORPHA:140957 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:187800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613112 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615193 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619271 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619840 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4304021 E (Exact mapping: the two concepts are equivalent) Bilateral microtia-hearing loss-cleft palate syndrome A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Orphanet ICD-10:Q87.0 ICD-11:LD2H.Y OMIM:612290 UMLS:C4303551 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140963 Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612290 E (Exact mapping: the two concepts are equivalent) UMLS:C4303551 E (Exact mapping: the two concepts are equivalent) PPK, Nagashima type Palmoplantar hyperkeratosis, Nagashima type A rare autosomal recessive, isolated diffuse palmoplantar keratoderma charactized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 OMIM:615598 UMLS:C3810072 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140966 Palmoplantar keratoderma, Nagashima type ORPHA:140966 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615598 E (Exact mapping: the two concepts are equivalent) UMLS:C3810072 E (Exact mapping: the two concepts are equivalent) Conorenal syndrome Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. Orphanet ICD-10:Q87.5 ICD-11:LD24.8Y MeSH:C535463 OMIM:266920 OMIM:615630 UMLS:C1849437 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140969 Saldino-Mainzer syndrome ORPHA:140969 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535463 E (Exact mapping: the two concepts are equivalent) OMIM:266920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615630 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1849437 E (Exact mapping: the two concepts are equivalent) Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537612 OMIM:602152 UMLS:C1865794 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140976 RHYNS syndrome ORPHA:140976 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537612 E (Exact mapping: the two concepts are equivalent) OMIM:602152 E (Exact mapping: the two concepts are equivalent) UMLS:C1865794 E (Exact mapping: the two concepts are equivalent) Isolated angiitis of the central nervous system PACNS PCNSV Primary central nervous system vasculitis Primary vasculitis of the central nervous system A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia. Orphanet ICD-10:I67.7 ICD-11:4A44.7 MeSH:C535276 UMLS:C2930862 Not applicable All ages United States AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140989 Primary angiitis of the central nervous system ORPHA:140989 ICD-10:I67.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535276 E (Exact mapping: the two concepts are equivalent) UMLS:C2930862 E (Exact mapping: the two concepts are equivalent) OFD Oral-facial-digital syndrome ICD-11:LD25.00 MeSH:D009958 UMLS:C0029294 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140997 Orofaciodigital syndrome Clinical group ORPHA:140997 ICD-11:LD25.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009958 E (Exact mapping: the two concepts are equivalent) UMLS:C0029294 E (Exact mapping: the two concepts are equivalent) ACY2 deficiency Aminoacylase 2 deficiency Aspartoacylase deficiency Spongy degeneration of the brain Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. Orphanet ICD-10:E75.2 ICD-11:5C50.E1 MeSH:D017825 MedDRA:10067608 OMIM:271900 UMLS:C0206307 Autosomal recessive Childhood Infancy Neonatal Specific population AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141 Canavan disease ORPHA:141 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017825 E (Exact mapping: the two concepts are equivalent) MedDRA:10067608 E (Exact mapping: the two concepts are equivalent) OMIM:271900 E (Exact mapping: the two concepts are equivalent) UMLS:C0206307 E (Exact mapping: the two concepts are equivalent) Pili trianguli et canaliculi Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. Orphanet ICD-10:Q84.1 ICD-11:EC21.0 MeSH:C536939 OMIM:191480 OMIM:617251 OMIM:617252 UMLS:C0432347 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1410 Uncombable hair syndrome ORPHA:1410 ICD-10:Q84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536939 E (Exact mapping: the two concepts are equivalent) OMIM:191480 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617251 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617252 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432347 E (Exact mapping: the two concepts are equivalent) OFD11 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome, Gabrielli type Orofaciodigital syndrome, Gabrielli type Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Orphanet ICD-10:Q87.0 ICD-11:LD25.00 MeSH:C557821 OMIM:612913 UMLS:C2752048 Not applicable Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141000 Orofaciodigital syndrome type 11 ORPHA:141000 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C557821 E (Exact mapping: the two concepts are equivalent) OMIM:612913 E (Exact mapping: the two concepts are equivalent) UMLS:C2752048 E (Exact mapping: the two concepts are equivalent) OFD9 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome with retinal abnormalities Orofaciodigital syndrome with retinal abnormalities Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Orphanet ICD-10:Q87.0 ICD-11:LD25.00 MeSH:C557818 OMIM:258865 UMLS:C0796102 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141007 Orofaciodigital syndrome type 9 ORPHA:141007 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C557818 E (Exact mapping: the two concepts are equivalent) OMIM:258865 E (Exact mapping: the two concepts are equivalent) UMLS:C0796102 E (Exact mapping: the two concepts are equivalent) First branchial cleft cyst First branchial cleft fistula A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland. Orphanet ICD-10:Q18.0 ICD-11:LA6Y UMLS:C3874320 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141013 First branchial cleft anomaly ORPHA:141013 ICD-10:Q18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3874320 E (Exact mapping: the two concepts are equivalent) Second branchial cleft cyst Second branchial cleft fistula A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia. Orphanet ICD-10:Q18.0 OMIM:113600 UMLS:C3874315 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141022 Second branchial cleft anomaly ORPHA:141022 ICD-10:Q18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:113600 E (Exact mapping: the two concepts are equivalent) UMLS:C3874315 E (Exact mapping: the two concepts are equivalent) Third branchial cleft cyst Third branchial cleft fistula A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula. Orphanet ICD-10:Q18.0 UMLS:C3874314 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141030 Third branchial cleft anomaly ORPHA:141030 ICD-10:Q18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3874314 E (Exact mapping: the two concepts are equivalent) Fourth branchial cleft cyst Fourth branchial cleft fistula A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula. Orphanet ICD-10:Q18.0 UMLS:C3873490 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141037 Fourth branchial cleft anomaly ORPHA:141037 ICD-10:Q18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3873490 E (Exact mapping: the two concepts are equivalent) Dermoid cyst of the neck Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia. Orphanet ICD-10:Q18.8 UMLS:C4706299 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141046 Cervical dermoid cyst ORPHA:141046 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706299 E (Exact mapping: the two concepts are equivalent) Dermoid cyst of the face Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. Orphanet ICD-10:Q18.8 UMLS:C4706321 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141051 Facial dermoid cyst ORPHA:141051 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706321 E (Exact mapping: the two concepts are equivalent) A rare otorhinolaryngological malformation characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection. Orphanet ICD-10:Q38.0 ICD-11:LA5Y UMLS:C5680634 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141061 Commissural lip fistula ORPHA:141061 ICD-10:Q38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680634 E (Exact mapping: the two concepts are equivalent) Isolated lower lip pits Non-syndromic familial congenital lower lip pits A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur. Orphanet ICD-10:Q38.0 ICD-11:LA5Y UMLS:C1274792 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141064 Isolated lower lip fistula ORPHA:141064 ICD-10:Q38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1274792 E (Exact mapping: the two concepts are equivalent) A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described. Orphanet ICD-10:Q18.8 ICD-11:LA6Y UMLS:C5231314 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141067 Cervicofacial fibrochondroma ORPHA:141067 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5231314 E (Exact mapping: the two concepts are equivalent) Enteric duplication cyst of the tongue Foregut duplication cyst of the tongue Gastric duplication cyst of the tongue Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus. Orphanet ICD-10:Q38.3 UMLS:C4512051 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141071 Digestive duplication cyst of the tongue ORPHA:141071 ICD-10:Q38.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4512051 E (Exact mapping: the two concepts are equivalent) External auditory canal stenosis/atresia A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma. Orphanet ICD-10:Q16.1 ICD-11:LA22.2 OMIM:108760 OMIM:607842 UMLS:C0266597 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141074 External auditory canal aplasia/hypoplasia ORPHA:141074 ICD-10:Q16.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA22.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:108760 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607842 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0266597 E (Exact mapping: the two concepts are equivalent) Oropharyngeal teratoma Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. Orphanet ICD-10:D37.0 ICD-11:LA70.Y UMLS:C0266725 Not applicable Antenatal Neonatal Worldwide AND has_birth_prevalence_average_value : 1.68 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 0.0017 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141077 Epignathus Clinical subtype ORPHA:141077 ICD-10:D37.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266725 E (Exact mapping: the two concepts are equivalent) Dacryocele Dacryocystocele Nasolacrimal mucocele Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females. Orphanet ICD-10:H04.6 ICD-11:LA14.12 UMLS:C5575612 Not applicable Adult Infancy Neonatal Europe AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 25.7 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141083 Nasolacrimal duct cyst ORPHA:141083 ICD-10:H04.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA14.12 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5575612 E (Exact mapping: the two concepts are equivalent) Double nose Polyrhinia A rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. Orphanet ICD-10:Q30.8 ICD-11:LA70 UMLS:C4274730 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141091 Polyrrhinia ORPHA:141091 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274730 E (Exact mapping: the two concepts are equivalent) Accessory nostril Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. Orphanet ICD-10:Q30.8 ICD-11:LA70.Y UMLS:C4021372 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141096 Supernumerary nostril ORPHA:141096 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4021372 E (Exact mapping: the two concepts are equivalent) Congenital tubular nose Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms). Orphanet ICD-10:Q30.8 ICD-11:LA70.Y UMLS:C4274985 Not applicable Antenatal Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141099 Proboscis lateralis ORPHA:141099 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274985 E (Exact mapping: the two concepts are equivalent) Nasal dermoid sinus cyst A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess. Orphanet ICD-10:Q18.8 OMIM:600679 UMLS:C5679605 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141103 Nasal dermoid cyst ORPHA:141103 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:600679 E (Exact mapping: the two concepts are equivalent) UMLS:C5679605 E (Exact mapping: the two concepts are equivalent) Teratoma of the nasopharynx ICD-10:D10.6 ICD-11:LA70.Y UMLS:C4531264 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141107 Nasopharyngeal teratoma Clinical subtype ORPHA:141107 ICD-10:D10.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4531264 E (Exact mapping: the two concepts are equivalent) Nasal glioma Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported. Orphanet ICD-10:Q30.8 ICD-11:LA70.Y UMLS:C0266490 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141112 Nasal glial heterotopia ORPHA:141112 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266490 E (Exact mapping: the two concepts are equivalent) Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. Orphanet ICD-10:Q30.8 ICD-11:2A00.21 UMLS:C5548206 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141115 Nasal ganglioglioma ORPHA:141115 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5548206 E (Exact mapping: the two concepts are equivalent) Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases. Orphanet ICD-10:Q01.1 ICD-11:LA01 UMLS:C0014066 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141118 Nasal encephalocele Clinical subtype ORPHA:141118 ICD-10:Q01.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0014066 E (Exact mapping: the two concepts are equivalent) A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes. Orphanet ICD-10:Q31.1 ICD-11:LA71.3 MedDRA:10087149 UMLS:C0396051 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141121 Congenital subglottic stenosis ORPHA:141121 ICD-10:Q31.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA71.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10087149 E (Exact mapping: the two concepts are equivalent) UMLS:C0396051 E (Exact mapping: the two concepts are equivalent) Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. Orphanet ICD-10:Q31.8 ICD-11:LA71.Y UMLS:C1393619 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141124 Congenital laryngeal cyst ORPHA:141124 ICD-10:Q31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1393619 E (Exact mapping: the two concepts are equivalent) A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty. Orphanet ICD-10:Q32.1 ICD-11:LA73.0 MeSH:C000715347 OMIM:603569 UMLS:C0265767 Not applicable Infancy Neonatal Canada AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141127 Congenital tracheal stenosis ORPHA:141127 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA73.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C000715347 E (Exact mapping: the two concepts are equivalent) OMIM:603569 E (Exact mapping: the two concepts are equivalent) UMLS:C0265767 E (Exact mapping: the two concepts are equivalent) Goldenhar syndrome OAV spectrum Oculoauriculovertebral spectrum A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Orphanet ICD-10:Q87.0 ICD-11:LD2F.16 MedDRA:10051934 OMIM:164210 UMLS:C0265240 Not applicable Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141132 Oculo-auriculo-vertebral spectrum ORPHA:141132 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10051934 E (Exact mapping: the two concepts are equivalent) OMIM:164210 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265240 E (Exact mapping: the two concepts are equivalent) First branchial arch syndrome Hemifacial microsomia Laterofacial microsomia Otomandibular dysostosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculo-auriculo-vertebral spectrum Otomandibular syndrome ORPHA:141136 Hemifacial hypertrophy Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties. Orphanet ICD-10:Q67.4 ICD-11:LA52 OMIM:133900 UMLS:C1399354 Not applicable Antenatal Infancy Neonatal United States AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.16 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141145 Hemifacial hyperplasia ORPHA:141145 ICD-10:Q67.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:133900 E (Exact mapping: the two concepts are equivalent) UMLS:C1399354 E (Exact mapping: the two concepts are equivalent) Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present. Orphanet ICD-10:Q67.4 ICD-11:LA52 MeSH:C535862 OMIM:606773 UMLS:C1847521 Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141148 Hemifacial myohyperplasia ORPHA:141148 ICD-10:Q67.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535862 E (Exact mapping: the two concepts are equivalent) OMIM:606773 E (Exact mapping: the two concepts are equivalent) UMLS:C1847521 E (Exact mapping: the two concepts are equivalent) A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others. Orphanet ICD-10:Q38.3 ICD-11:LA31.1 OMIM:612776 UMLS:C5680636 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141152 Isolated congenital hypoglossia/aglossia ORPHA:141152 ICD-10:Q38.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:612776 E (Exact mapping: the two concepts are equivalent) UMLS:C5680636 E (Exact mapping: the two concepts are equivalent) Cosack syndrome A rare oromandibular-limb hypogenesis syndrome (OLHS) characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). Orphanet ICD-10:Q38.3 ICD-11:LD25.0Y UMLS:C4303569 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141163 Glossopalatine ankylosis ORPHA:141163 ICD-10:Q38.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303569 E (Exact mapping: the two concepts are equivalent) Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure. Orphanet ICD-10:Q27.3 ICD-11:LA90.3Y UMLS:C3838993 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141168 Frontonasal arteriovenous malformation ORPHA:141168 ICD-10:Q27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3838993 E (Exact mapping: the two concepts are equivalent) Arteriovenous malformation of maxilla Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic. Orphanet ICD-10:Q27.3 ICD-11:LA90.3Y UMLS:C3839810 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141171 Maxillary arteriovenous malformation ORPHA:141171 ICD-10:Q27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3839810 E (Exact mapping: the two concepts are equivalent) Arteriovenous malformation of mandible Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock. Orphanet ICD-10:Q27.3 ICD-11:LA90.3Y UMLS:C3839452 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141174 Mandibular arteriovenous malformation ORPHA:141174 ICD-10:Q27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3839452 E (Exact mapping: the two concepts are equivalent) NICH Non-involuting congenital hemangiomas (NICH) are a distinctive type of large congenital hemangioma that are fully formed <i>in utero</i> and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase. Orphanet ICD-10:D18.0 ICD-11:2E81.2Y ICD-11:XH5427 UMLS:C1275417 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141179 Non-involuting congenital hemangioma ORPHA:141179 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E81.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH5427 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1275417 E (Exact mapping: the two concepts are equivalent) RICH Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed <i>in utero</i> and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution. Orphanet ICD-10:D18.0 ICD-11:2E81.2Y ICD-11:XH6RC4 UMLS:C1275421 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141184 Rapidly involuting congenital hemangioma ORPHA:141184 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E81.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6RC4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1275421 E (Exact mapping: the two concepts are equivalent) CAMS A group of rare, nonhereditary, complex cerebrofacial vascular malformation characterized by multiple ipsilateral arteriovenous malformations (AVMs) with a metameric distribution, affecting various territories of the face with corresponding areas of the brain. The spectrum is highly variable with three types described according to lesion distribution: CAMS&nbsp;1 derives from the medial prosencephalon with concurrent involvement of hypothalamus, nose, forehead; CAMS&nbsp;2 arises from the lateral prosencephalon and involves basal ganglia, optic nerve and retina and maxillo-facial region; CAMS&nbsp;3 derives from the rhombencephalon and involves cerebellum and mandible. Orphanet UMLS:C3839265 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141189 Cerebrofacial arteriovenous metameric syndrome Clinical group ORPHA:141189 UMLS:C3839265 E (Exact mapping: the two concepts are equivalent) CAMS1 A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry. Orphanet ICD-10:Q28.2 ICD-11:LA90.3Y UMLS:C3840102 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141194 Cerebrofacial arteriovenous metameric syndrome type 1 ORPHA:141194 ICD-10:Q28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3840102 E (Exact mapping: the two concepts are equivalent) CAMS3 A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry. Orphanet ICD-10:Q28.2 ICD-11:LA90.3Y UMLS:C3838691 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141199 Cerebrofacial arteriovenous metameric syndrome type 3 ORPHA:141199 ICD-10:Q28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3838691 E (Exact mapping: the two concepts are equivalent) Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. Orphanet ICD-10:Q74.8 ICD-11:LD26.3 MeSH:C536943 OMIM:186400 OMIM:186570 UMLS:C1861305 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1412 Tarsal-carpal coalition syndrome ORPHA:1412 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536943 E (Exact mapping: the two concepts are equivalent) OMIM:186400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:186570 E (Exact mapping: the two concepts are equivalent) UMLS:C1861305 E (Exact mapping: the two concepts are equivalent) Diffuse lymphangioma Diffuse lymphangiomatosis Disseminated lymphangioma Disseminated lymphangiomatosis Disseminated lymphatic malformation GLA Generalized lymphatic anomaly A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality. Orphanet ICD-10:I89.8 ICD-11:2E81.10 UMLS:C3839921 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141209 Diffuse lymphatic malformation ORPHA:141209 ICD-10:I89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E81.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3839921 E (Exact mapping: the two concepts are equivalent) Isolated congenital maxillomandibular fusion Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis. Orphanet ICD-10:Q67.4 ICD-11:LA5Y UMLS:C4706392 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141214 Isolated congenital syngnathia ORPHA:141214 ICD-10:Q67.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706392 E (Exact mapping: the two concepts are equivalent) A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists. Orphanet ICD-10:Q18.8 ICD-11:LA5Y UMLS:C0339853 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141219 Nasal dorsum fistula ORPHA:141219 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0339853 E (Exact mapping: the two concepts are equivalent) Craniofacial cleft ICD-11:LA51 UMLS:C0685787 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141229 Facial cleft Category ORPHA:141229 ICD-11:LA51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0685787 E (Exact mapping: the two concepts are equivalent) Midline facial cleft Tessier number 0-14 and 30 facial cleft UMLS:C4022007 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141234 Median facial cleft Clinical group ORPHA:141234 UMLS:C4022007 E (Exact mapping: the two concepts are equivalent) A rare median facial cleft characterized by a midline vertical cleft through the upper lip and premaxillary bone, which is highly variable in its extent and may also involve the nasal septum and central nervous system. Depending on the severity of the defect, associated manifestations include atrophy of midline structures, hypo-/hypertelorism, monophthalmia, proboscis, nasal deformity, median alveolar cleft, and short upper frenulum. Orphanet ICD-10:Q18.8 ICD-11:LA51 UMLS:C3697381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141239 Median cleft of the upper lip and maxilla ORPHA:141239 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3697381 E (Exact mapping: the two concepts are equivalent) Alar cleft Alar rim cleft Cleft nose Isolated cleft of the ala nasi Isolated coloboma of the nose Tessier number 1 cleft Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved. Orphanet ICD-10:Q18.8 ICD-11:LA51 OMIM:614687 UMLS:C4759655 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141242 Paramedian nasal cleft ORPHA:141242 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614687 E (Exact mapping: the two concepts are equivalent) UMLS:C4759655 E (Exact mapping: the two concepts are equivalent) Orbitofacial cleft UMLS:C5679604 Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141253 Oblique facial cleft Clinical group ORPHA:141253 UMLS:C5679604 E (Exact mapping: the two concepts are equivalent) A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus. Orphanet ICD-10:Q18.8 ICD-11:LA51 OMIM:600251 UMLS:C4703420 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141258 Tessier number 4 facial cleft ORPHA:141258 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600251 E (Exact mapping: the two concepts are equivalent) UMLS:C4703420 E (Exact mapping: the two concepts are equivalent) A rare oblique facial cleft characterized by a congenital unilateral or bilateral defect beginning in the upper lip medial to the oral commissure and extending across the cheek as a groove ending between the middle and lateral third of the lower eyelid (resulting in coloboma). Bone involvement includes an alveolar cleft in the premolar region, extending across the maxilla lateral to the infraorbital nerve and up to the infraorbital rim and orbital floor. The malformation may be associated with Tessier number 3 and number 4 clefts, macrostomia, or anophthalmos. Orphanet ICD-10:Q18.8 ICD-11:LA51 UMLS:C0432119 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141261 Tessier number 5 facial cleft ORPHA:141261 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0432119 E (Exact mapping: the two concepts are equivalent) A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome. Orphanet ICD-10:Q18.8 ICD-11:LA51 UMLS:C0432120 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141265 Tessier number 6 facial cleft ORPHA:141265 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0432120 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141269 Lateral facial cleft Clinical group ORPHA:141269 Commissural facial cleft Transverse facial cleft A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process. Orphanet ICD-10:Q18.4 ICD-11:LA51 OMIM:613545 UMLS:C4552111 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141276 Tessier number 7 facial cleft ORPHA:141276 ICD-10:Q18.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613545 E (Exact mapping: the two concepts are equivalent) UMLS:C4552111 E (Exact mapping: the two concepts are equivalent) A rare neck malformation characterized by a congenital vertical atrophic and usually erythematous skin defect of variable length, lacking adnexal elements and located along the midline of the anterior neck. It typically presents with a superior skin tag, a midline subcutaneous fibrous cord which is often longer than the overlying skin defect, and an inferior blind sinus from which mucus can be expressed. The length of the defect increases with patients' age. Likewise, the fibrous cord becomes more prominent with age, potentially leading to restriction of neck extension if the malformation is left untreated. Other possible complications include microgenia, exostosis, torticollis, or infection. Orphanet ICD-10:Q18.8 ICD-11:LA51 MeSH:C000719407 UMLS:C4479645 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141288 Midline cervical cleft ORPHA:141288 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000719407 E (Exact mapping: the two concepts are equivalent) UMLS:C4479645 E (Exact mapping: the two concepts are equivalent) Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees. Orphanet ICD-10:Q36.0 ICD-10:Q36.1 ICD-10:Q36.9 ICD-11:LA41 OMIM:119530 OMIM:129400 OMIM:225060 OMIM:600757 OMIM:602966 OMIM:608371 OMIM:608874 OMIM:610361 OMIM:612858 UMLS:C1298692 Multigenic/multifactorial Infancy Neonatal Europe AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141291 Cleft lip and alveolus ORPHA:141291 ICD-10:Q36.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q36.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:119530 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:129400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:225060 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600757 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:602966 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:608371 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:608874 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610361 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:612858 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C1298692 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Moran-Barroso syndrome OBSOLETE: OFD12 OBSOLETE: Oral-facial-digital syndrome type 12 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofaciodigital syndrome OBSOLETE: Orofaciodigital syndrome type 12 ORPHA:141327 OBSOLETE: Degner syndrome OBSOLETE: OFD13 OBSOLETE: Oral-facial-digital syndrome type 13 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofaciodigital syndrome OBSOLETE: Orofaciodigital syndrome type 13 ORPHA:141330 Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. Orphanet ICD-10:Q87.8 MeSH:C565902 OMIM:210350 UMLS:C1859487 Unknown Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=141333 Biemond syndrome type 2 ORPHA:141333 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565902 E (Exact mapping: the two concepts are equivalent) OMIM:210350 E (Exact mapping: the two concepts are equivalent) UMLS:C1859487 E (Exact mapping: the two concepts are equivalent) Aagenaes syndrome Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. Orphanet ICD-10:Q82.0 ICD-11:DB99.6Y MeSH:C535330 OMIM:214900 UMLS:C0268314 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 47.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1414 Cholestasis-lymphedema syndrome ORPHA:1414 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB99.6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535330 E (Exact mapping: the two concepts are equivalent) OMIM:214900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268314 E (Exact mapping: the two concepts are equivalent) Cholestasis-pigmentary retinopathy-cleft palate syndrome HDKR MED12-related Hardikar syndrome A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Orphanet ICD-10:Q87.8 MeSH:C535632 OMIM:301068 UMLS:C0795969 Not applicable Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1415 Hardikar syndrome ORPHA:1415 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535632 E (Exact mapping: the two concepts are equivalent) OMIM:301068 E (Exact mapping: the two concepts are equivalent) UMLS:C0795969 E (Exact mapping: the two concepts are equivalent) Calcium pyrophosphate dihydrate crystal deposition disease Familial CC Familial CPPD Familial articular chondrocalcinosis Hereditary CC Hereditary articular chondrocalcinosis Hereditary calcium pyrophosphate deposition A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA). Orphanet ICD-10:M11.1 ICD-11:FA26.0 OMIM:118600 OMIM:600668 UMLS:C0553730 Autosomal dominant Not applicable Adult Worldwide AND has_cases/families_value : 100.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1416 Familial calcium pyrophosphate deposition ORPHA:1416 ICD-10:M11.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FA26.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:118600 E (Exact mapping: the two concepts are equivalent) OMIM:600668 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0553730 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Akaba-Hayasaka syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spondylodysplastic dysplasia OBSOLETE: Platyspondylic lethal chondrodysplasia ORPHA:1417 A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans. Orphanet ICD-10:C73 ICD-11:2D10.3 MeSH:D065646 MedDRA:10002240 UMLS:C0238461 Not applicable Adult Elderly Europe AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=142 Anaplastic thyroid carcinoma ORPHA:142 ICD-10:C73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D10.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065646 E (Exact mapping: the two concepts are equivalent) MedDRA:10002240 E (Exact mapping: the two concepts are equivalent) UMLS:C0238461 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Moerman-Vandenberghe-Fryns syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Lethal chondrodysplasia OBSOLETE: Lethal chondrodysplasia, Moerman type ORPHA:1420 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Lethal chondrodysplasia OBSOLETE: Lethal chondrodysplasia, Seller type ORPHA:1421 Chondrodysplasia-disorder of sex development syndrome Chondrodysplasia-pseudohermaphroditism syndrome Nivelon-Nivelon-Mabille syndrome A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. Orphanet ICD-10:Q87.1 MeSH:C536123 OMIM:600092 UMLS:C1838654 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1422 Chondrodysplasia-difference of sex development syndrome ORPHA:1422 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536123 E (Exact mapping: the two concepts are equivalent) OMIM:600092 E (Exact mapping: the two concepts are equivalent) UMLS:C1838654 E (Exact mapping: the two concepts are equivalent) Maroteaux-Stanescu-Cousin syndrome Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q78.8 ICD-11:FB82.Y UMLS:C4304745 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1423 Lethal recessive chondrodysplasia ORPHA:1423 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304745 E (Exact mapping: the two concepts are equivalent) DBQD Desbuquois dysplasia Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. Orphanet ICD-10:Q78.8 ICD-11:LD24.E MeSH:C535943 OMIM:251450 OMIM:615777 UMLS:C0432242 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1425 Desbuquois syndrome ORPHA:1425 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535943 E (Exact mapping: the two concepts are equivalent) OMIM:251450 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615777 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432242 E (Exact mapping: the two concepts are equivalent) HEM dysplasia Hydrops-ectopic calcification-motheaten syndrome Skeletal dysplasia, Greenberg type Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early <i>in utero</i> lethality and affected fetuses are considered as nonviable. Orphanet ICD-10:Q77.3 ICD-11:LD24.04 MeSH:C535858 OMIM:215140 UMLS:C2931048 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1426 Greenberg dysplasia ORPHA:1426 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535858 E (Exact mapping: the two concepts are equivalent) OMIM:215140 E (Exact mapping: the two concepts are equivalent) UMLS:C2931048 E (Exact mapping: the two concepts are equivalent) OSMED Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MedDRA:10084407 OMIM:215150 UMLS:C4520892 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1427 Autosomal recessive otospondylomegaepiphyseal dysplasia ORPHA:1427 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10084407 E (Exact mapping: the two concepts are equivalent) OMIM:215150 E (Exact mapping: the two concepts are equivalent) UMLS:C4520892 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Patellar dysostosis OBSOLETE: Familial chondromalacia patellae ORPHA:1428 BHC Benign familial chorea A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes. Orphanet ICD-10:G25.5 ICD-11:8A01.0 OMIM:118700 OMIM:215450 UMLS:C0393584 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1429 Benign hereditary chorea ORPHA:1429 ICD-10:G25.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:118700 E (Exact mapping: the two concepts are equivalent) OMIM:215450 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0393584 E (Exact mapping: the two concepts are equivalent) A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease. Orphanet ICD-10:C75.0 ICD-11:2D12.Y MeSH:D010282 OMIM:608266 UMLS:C0687150 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.28 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=143 Parathyroid carcinoma ORPHA:143 ICD-10:C75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D010282 E (Exact mapping: the two concepts are equivalent) OMIM:608266 E (Exact mapping: the two concepts are equivalent) UMLS:C0687150 E (Exact mapping: the two concepts are equivalent) Paroxysmal choreoathetosis Paroxysmal dystonic choreoathetosis Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms). Orphanet ICD-11:8A02.2 MeSH:D002819 UMLS:C0752210 Autosomal dominant Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1431 Paroxysmal dyskinesia Clinical group ORPHA:1431 ICD-11:8A02.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002819 E (Exact mapping: the two concepts are equivalent) UMLS:C0752210 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Microcephaly-lymphedema-chorioretinopathy syndrome UMLS:C3501946 Autosomal dominant chorioretinopathy-microcephaly syndrome ORPHA:1432 UMLS:C3501946 E (Exact mapping: the two concepts are equivalent) Moloney syndrome Regional choroidal atrophy and alopecia A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:C535810 UMLS:C2931026 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1433 Choroidal atrophy-alopecia syndrome ORPHA:1433 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535810 E (Exact mapping: the two concepts are equivalent) UMLS:C2931026 E (Exact mapping: the two concepts are equivalent) OBSOLETE: CHM-hypopituitarism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xq21 microdeletion syndrome OBSOLETE: Choroideremia-hypopituitarism syndrome ORPHA:1434 Ayazi syndrome Del(X)(q21) Monosomy Xq21 An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Orphanet ICD-10:Q93.5 MeSH:C537793 OMIM:303110 UMLS:C1844836 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1435 Xq21 microdeletion syndrome ORPHA:1435 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537793 E (Exact mapping: the two concepts are equivalent) OMIM:303110 E (Exact mapping: the two concepts are equivalent) UMLS:C1844836 E (Exact mapping: the two concepts are equivalent) Christian syndrome A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977. Orphanet ICD-10:Q87.5 MeSH:C564101 OMIM:309620 UMLS:C1839729 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1436 X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564101 E (Exact mapping: the two concepts are equivalent) OMIM:309620 E (Exact mapping: the two concepts are equivalent) UMLS:C1839729 E (Exact mapping: the two concepts are equivalent) Ring 1 Ring chromosome 1 r(1) syndrome Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C535361 UMLS:C0265395 Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1437 Ring chromosome 1 syndrome ORPHA:1437 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535361 E (Exact mapping: the two concepts are equivalent) UMLS:C0265395 E (Exact mapping: the two concepts are equivalent) Ring 10 Ring chromosome 10 An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C538086 UMLS:C0265438 Not applicable Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1438 Ring chromosome 10 syndrome ORPHA:1438 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538086 E (Exact mapping: the two concepts are equivalent) UMLS:C0265438 E (Exact mapping: the two concepts are equivalent) Ring 12 Ring chromosome 12 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. Orphanet ICD-10:Q93.2 ICD-11:LD7Y UMLS:C5201040 Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1439 Ring chromosome 12 syndrome ORPHA:1439 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5201040 E (Exact mapping: the two concepts are equivalent) A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue. Orphanet ICD-10:D48.9 MeSH:D003123 MedDRA:10051981 OMIM:120435 OMIM:609310 OMIM:613244 OMIM:614331 OMIM:614337 OMIM:614350 OMIM:614385 UMLS:C4552100 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=144 Lynch syndrome ORPHA:144 ICD-10:D48.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D003123 E (Exact mapping: the two concepts are equivalent) MedDRA:10051981 E (Exact mapping: the two concepts are equivalent) OMIM:120435 E (Exact mapping: the two concepts are equivalent) OMIM:609310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613244 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614331 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614337 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614385 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4552100 E (Exact mapping: the two concepts are equivalent) Ring 14 Ring chromosome 14 A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C535487 OMIM:616606 UMLS:C2930916 Not applicable Unknown Childhood Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1440 Ring chromosome 14 syndrome ORPHA:1440 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535487 E (Exact mapping: the two concepts are equivalent) OMIM:616606 E (Exact mapping: the two concepts are equivalent) UMLS:C2930916 E (Exact mapping: the two concepts are equivalent) Ring 17 Ring chromosome 17 A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C538046 UMLS:C0795863 Not applicable Unknown Childhood Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1441 Ring chromosome 17 syndrome ORPHA:1441 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538046 E (Exact mapping: the two concepts are equivalent) UMLS:C0795863 E (Exact mapping: the two concepts are equivalent) Ring 18 Ring chromosome 18 A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C538304 UMLS:C0265475 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1442 Ring chromosome 18 syndrome ORPHA:1442 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538304 E (Exact mapping: the two concepts are equivalent) UMLS:C0265475 E (Exact mapping: the two concepts are equivalent) Ring 19 Ring chromosome 19 Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. Orphanet ICD-10:Q93.2 ICD-11:LD7Y UMLS:C0795869 Antenatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1443 Ring chromosome 19 syndrome ORPHA:1443 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0795869 E (Exact mapping: the two concepts are equivalent) Ring 20 Ring chromosome 20 A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C580424 UMLS:C0265482 Unknown Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1444 Ring chromosome 20 syndrome ORPHA:1444 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580424 E (Exact mapping: the two concepts are equivalent) UMLS:C0265482 E (Exact mapping: the two concepts are equivalent) Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C537109 UMLS:C0265487 Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1445 Ring chromosome 21 syndrome ORPHA:1445 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537109 E (Exact mapping: the two concepts are equivalent) UMLS:C0265487 E (Exact mapping: the two concepts are equivalent) Ring 22 Ring chromosome 22 r(22) syndrome A rare autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C536795 UMLS:C0265492 Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1446 Ring chromosome 22 syndrome ORPHA:1446 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536795 E (Exact mapping: the two concepts are equivalent) UMLS:C0265492 E (Exact mapping: the two concepts are equivalent) Ring 4 Ring chromosome 4 Syndrome r(4) r(4) syndrome Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C537636 UMLS:C0265407 Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1447 Ring chromosome 4 syndrome ORPHA:1447 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537636 E (Exact mapping: the two concepts are equivalent) UMLS:C0265407 E (Exact mapping: the two concepts are equivalent) Ring 6 Ring chromosome 6 Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C537763 UMLS:C0795814 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1448 Ring chromosome 6 syndrome ORPHA:1448 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537763 E (Exact mapping: the two concepts are equivalent) UMLS:C0795814 E (Exact mapping: the two concepts are equivalent) Ring 7 Ring chromosome 7 Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C537813 UMLS:C0795818 Antenatal Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1449 Ring chromosome 7 syndrome ORPHA:1449 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537813 E (Exact mapping: the two concepts are equivalent) UMLS:C0795818 E (Exact mapping: the two concepts are equivalent) A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history. Orphanet ICD-10:C50.9 ICD-10:C56 ICD-11:2C65 MeSH:D061325 OMIM:604370 OMIM:612555 OMIM:613399 OMIM:614291 UMLS:C0677776 Autosomal dominant Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=145 Hereditary breast and/or ovarian cancer syndrome ORPHA:145 ICD-10:C50.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C56 - ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C65 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D061325 E (Exact mapping: the two concepts are equivalent) OMIM:604370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612555 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613399 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614291 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0677776 E (Exact mapping: the two concepts are equivalent) Ring 8 Ring chromosome 8 r(8) syndrome A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C537824 UMLS:C4274902 Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1450 Ring chromosome 8 syndrome ORPHA:1450 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537824 E (Exact mapping: the two concepts are equivalent) UMLS:C4274902 E (Exact mapping: the two concepts are equivalent) Chronic infantile neurological cutaneous and articular syndrome IOMID syndrome Infantile-onset multisystem inflammatory disease NOMID syndrome Neonatal-onset multisystem inflammatory disease Prieur-Griscelli syndrome A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss). Orphanet ICD-10:E85.0 ICD-11:4A60.1 MedDRA:10064568 OMIM:607115 UMLS:C0409818 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1451 CINCA syndrome ORPHA:1451 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064568 E (Exact mapping: the two concepts are equivalent) OMIM:607115 E (Exact mapping: the two concepts are equivalent) UMLS:C0409818 E (Exact mapping: the two concepts are equivalent) Cleidocranial dysostosis Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities. Orphanet ICD-10:Q74.0 ICD-11:LD24.2Y MeSH:D002973 MedDRA:10075994 OMIM:119600 OMIM:620099 UMLS:C0008928 Autosomal dominant Not applicable Neonatal Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1452 Cleidocranial dysplasia ORPHA:1452 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D002973 E (Exact mapping: the two concepts are equivalent) MedDRA:10075994 E (Exact mapping: the two concepts are equivalent) OMIM:119600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620099 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0008928 E (Exact mapping: the two concepts are equivalent) Rhizomelic shortness with clavicular defect Wallis-Zieff-Goldblatt syndrome Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q77.8 MeSH:C536428 OMIM:119650 UMLS:C1861515 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1453 Cleidorhizomelic syndrome ORPHA:1453 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536428 E (Exact mapping: the two concepts are equivalent) OMIM:119650 E (Exact mapping: the two concepts are equivalent) UMLS:C1861515 E (Exact mapping: the two concepts are equivalent) COACH syndrome Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). Orphanet ICD-10:Q04.3 ICD-11:LD20.0Y MeSH:C536430 OMIM:216360 OMIM:619111 OMIM:619113 UMLS:C1857662 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1454 Joubert syndrome with hepatic defect ORPHA:1454 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536430 E (Exact mapping: the two concepts are equivalent) OMIM:216360 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619111 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619113 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1857662 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Aorta coarctation OBSOLETE: Autosomal dominant coarctation of aorta ORPHA:1455 Abdominal coarctation Coarctation of the abdominal aorta MAC Mid-aortic dysplastic syndrome Mid-aortic syndrome Midaortic syndrome Middle aortic coarctation A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). Orphanet ICD-10:Q25.1 ICD-11:LA8B.21 UMLS:C3496579 Not applicable Childhood Europe AND has_birth_prevalence_average_value : 0.17 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1456 Middle aortic syndrome ORPHA:1456 ICD-10:Q25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8B.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3496579 E (Exact mapping: the two concepts are equivalent) ICD-10:Q25.1 ICD-11:LA8B.21 MeSH:D001017 MedDRA:10009807 OMIM:120000 UMLS:C0003492 Not applicable Infancy Neonatal Austria AND has_birth_prevalence_average_value : 78.5 AND has_birth_prevalence_range : 6-9 / 10 000 Belgium AND has_birth_prevalence_average_value : 43.7 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 22.7 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 35.6 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 27.5 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 59.4 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 31.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 32.5 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 39.6 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 9.5 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 16.9 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 38.1 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 40.1 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1457 Aorta coarctation ORPHA:1457 ICD-10:Q25.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8B.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001017 E (Exact mapping: the two concepts are equivalent) MedDRA:10009807 E (Exact mapping: the two concepts are equivalent) OMIM:120000 E (Exact mapping: the two concepts are equivalent) UMLS:C0003492 E (Exact mapping: the two concepts are equivalent) Cerebrooculodentoauriculoskeletal syndrome Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. Orphanet ICD-10:Q87.8 MeSH:C536434 OMIM:600373 UMLS:C1838180 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1458 CODAS syndrome ORPHA:1458 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536434 E (Exact mapping: the two concepts are equivalent) OMIM:600373 E (Exact mapping: the two concepts are equivalent) UMLS:C1838180 E (Exact mapping: the two concepts are equivalent) CEC Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Orphanet ICD-10:G40.8 OMIM:226810 UMLS:C4302597 Not applicable Childhood Worldwide AND has_cases/families_value : 170.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1459 Celiac disease-epilepsy-cerebral calcification syndrome ORPHA:1459 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:226810 E (Exact mapping: the two concepts are equivalent) UMLS:C4302597 E (Exact mapping: the two concepts are equivalent) Papillary or follicular thyroid carcinoma Well-differentiated thyroid carcinoma A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC). Orphanet ICD-10:C73 OMIM:188550 OMIM:607464 UMLS:C1337013 Not applicable Adolescent Adult Childhood Europe AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 5.25 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=146 Differentiated thyroid carcinoma ORPHA:146 ICD-10:C73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:188550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:607464 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1337013 E (Exact mapping: the two concepts are equivalent) Isolated CoQ-cytochrome C reductase deficiency Isolated coenzyme Q-cytochrome C reductase deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated ubiquinone-cytochrome C reductase deficiency Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). Orphanet ICD-10:G71.3 ICD-11:5C53.2Y MeSH:C565128 OMIM:124000 OMIM:615157 OMIM:615158 OMIM:615159 OMIM:615160 OMIM:615453 OMIM:615824 OMIM:615838 OMIM:616111 OMIM:618775 OMIM:620137 UMLS:C1852372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1460 Isolated complex III deficiency ORPHA:1460 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565128 E (Exact mapping: the two concepts are equivalent) OMIM:124000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615157 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615158 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615159 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615160 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615453 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615824 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615838 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616111 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618775 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620137 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1852372 E (Exact mapping: the two concepts are equivalent) Criss-cross atrioventricular relationships Superoinferior ventricles Twisted atrioventricular connections Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects. Orphanet ICD-10:Q24.8 ICD-11:LA81 MeSH:D003420 UMLS:C0010334 Unknown Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1461 Criss-cross heart ORPHA:1461 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D003420 E (Exact mapping: the two concepts are equivalent) UMLS:C0010334 E (Exact mapping: the two concepts are equivalent) Cor triatriatum ICD-10:Q24.2 MeSH:D003310 MedDRA:10010972 UMLS:C0009995 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1463 Triatrial heart Clinical group ORPHA:1463 ICD-10:Q24.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003310 E (Exact mapping: the two concepts are equivalent) MedDRA:10010972 E (Exact mapping: the two concepts are equivalent) UMLS:C0009995 E (Exact mapping: the two concepts are equivalent) Double inlet atrioventricular connection A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities. Orphanet ICD-10:Q20.4 ICD-11:LA89.0 MeSH:D000080039 MedDRA:10045545 UMLS:C0152424 Not applicable Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1464 Univentricular heart ORPHA:1464 ICD-10:Q20.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA89.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000080039 E (Exact mapping: the two concepts are equivalent) MedDRA:10045545 E (Exact mapping: the two concepts are equivalent) UMLS:C0152424 E (Exact mapping: the two concepts are equivalent) CSS A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features. Orphanet ICD-10:Q87.1 ICD-11:LD27.0Y MeSH:C536436 OMIM:135900 OMIM:614607 OMIM:614608 OMIM:614609 OMIM:615866 OMIM:616938 OMIM:617808 OMIM:618027 OMIM:618362 OMIM:618506 OMIM:618779 OMIM:619325 UMLS:C0265338 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 190.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1465 Coffin-Siris syndrome ORPHA:1465 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536436 E (Exact mapping: the two concepts are equivalent) OMIM:135900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614607 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614608 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614609 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615866 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616938 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617808 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618027 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618362 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618506 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618779 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619325 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265338 E (Exact mapping: the two concepts are equivalent) Cerebrooculofacioskeletal syndrome Pena-Shokeir syndrome type 2 Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. Orphanet ICD-10:Q87.1 ICD-11:LD2B OMIM:214150 OMIM:278780 OMIM:610756 OMIM:610758 OMIM:616570 UMLS:C5399761 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1466 COFS syndrome Clinical subtype ORPHA:1466 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:214150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610756 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610758 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616570 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5399761 E (Exact mapping: the two concepts are equivalent) A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions. Orphanet ICD-10:H16.3 ICD-11:4A44.Y MeSH:D055952 MedDRA:10056667 UMLS:C0271270 Not applicable Adolescent Adult Childhood Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1467 Cogan syndrome ORPHA:1467 ICD-10:H16.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:4A44.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D055952 E (Exact mapping: the two concepts are equivalent) MedDRA:10056667 E (Exact mapping: the two concepts are equivalent) UMLS:C0271270 E (Exact mapping: the two concepts are equivalent) CPS1 deficiency CPS1D Carbamoyl-phosphate synthetase I deficiency Carbamoyl-phosphate synthetase deficiency A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. Orphanet ICD-10:E72.2 ICD-11:5C50.A1 MeSH:D020165 MedDRA:10058297 OMIM:237300 UMLS:C0751753 Autosomal recessive All ages Finland AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.125 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.077 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=147 Carbamoyl-phosphate synthetase 1 deficiency ORPHA:147 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.A1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020165 E (Exact mapping: the two concepts are equivalent) MedDRA:10058297 E (Exact mapping: the two concepts are equivalent) OMIM:237300 E (Exact mapping: the two concepts are equivalent) UMLS:C0751753 E (Exact mapping: the two concepts are equivalent) Sorsby syndrome A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:C535969 OMIM:120400 UMLS:C1852752 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1471 Coloboma of macula-brachydactyly type B syndrome ORPHA:1471 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535969 E (Exact mapping: the two concepts are equivalent) OMIM:120400 E (Exact mapping: the two concepts are equivalent) UMLS:C1852752 E (Exact mapping: the two concepts are equivalent) A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Orphanet ICD-10:Q13.8 ICD-11:LD2F.1Y OMIM:120433 UMLS:C5680601 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1473 Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:120433 E (Exact mapping: the two concepts are equivalent) UMLS:C5680601 E (Exact mapping: the two concepts are equivalent) Hittner-Hirsch-Kreh syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to CHARGE syndrome UMLS:C2931818 Colobomatous-microphthalmia-heart disease-hearing loss syndrome ORPHA:1474 UMLS:C2931818 E (Exact mapping: the two concepts are equivalent) Coloboma of optic nerve with renal disease Papillo-renal syndrome A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. Orphanet ICD-10:Q60.4 ICD-11:LA13.7Y MeSH:C537168 OMIM:120330 UMLS:C1852759 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 180.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1475 Renal coloboma syndrome ORPHA:1475 ICD-10:Q60.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537168 E (Exact mapping: the two concepts are equivalent) OMIM:120330 E (Exact mapping: the two concepts are equivalent) UMLS:C1852759 E (Exact mapping: the two concepts are equivalent) ASD Atrial septal defect Interauricular communication A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart. Orphanet ICD-10:Q21.1 ICD-11:LA8E.Y MeSH:D006344 MedDRA:10003664 OMIM:108800 OMIM:607941 OMIM:611363 OMIM:612794 OMIM:613087 OMIM:614089 OMIM:614433 OMIM:614475 UMLS:C0018817 Not applicable Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1478 Interatrial communication ORPHA:1478 ICD-10:Q21.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8E.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006344 E (Exact mapping: the two concepts are equivalent) MedDRA:10003664 E (Exact mapping: the two concepts are equivalent) OMIM:108800 E (Exact mapping: the two concepts are equivalent) OMIM:607941 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611363 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612794 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613087 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614089 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614433 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614475 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0018817 E (Exact mapping: the two concepts are equivalent) An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. Orphanet ICD-10:Q21.1 OMIM:108900 UMLS:C4510872 Autosomal dominant No data available Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1479 Atrial septal defect-atrioventricular conduction defects syndrome ORPHA:1479 ICD-10:Q21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:108900 E (Exact mapping: the two concepts are equivalent) UMLS:C4510872 E (Exact mapping: the two concepts are equivalent) MCD A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. Orphanet MeSH:D009100 MedDRA:10028176 UMLS:C0026755 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=148 Multiple carboxylase deficiency Clinical group ORPHA:148 MeSH:D009100 E (Exact mapping: the two concepts are equivalent) MedDRA:10028176 E (Exact mapping: the two concepts are equivalent) UMLS:C0026755 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Interventricular communication NON RARE IN EUROPE: VSD This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:Q21.0 NON RARE IN EUROPE: Ventricular septal defect ORPHA:1480 ICD-10:Q21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). A rare disorder of the anterior segment of the eye caused by <i>Neisseria gonorrhoeae</i>, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral. Orphanet ICD-10:A54.3+ ICD-10:H13.1* ICD-11:1A72.4 MeSH:D009878 UMLS:C0339166 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1482 Gonococcal conjunctivitis ORPHA:1482 ICD-10:A54.3+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:H13.1* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A72.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009878 E (Exact mapping: the two concepts are equivalent) UMLS:C0339166 E (Exact mapping: the two concepts are equivalent) Ladda-Zonana-Ramer syndrome A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C538135 OMIM:301815 UMLS:C2931745 Autosomal recessive X-linked recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538135 E (Exact mapping: the two concepts are equivalent) OMIM:301815 E (Exact mapping: the two concepts are equivalent) UMLS:C2931745 E (Exact mapping: the two concepts are equivalent) Johnston-Aarons-Schelley syndrome A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. Orphanet ICD-10:Q68.8 MeSH:C535883 OMIM:208158 UMLS:C1859710 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1485 Arthrogryposis-hyperkeratosis syndrome, lethal form ORPHA:1485 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535883 E (Exact mapping: the two concepts are equivalent) OMIM:208158 E (Exact mapping: the two concepts are equivalent) UMLS:C1859710 E (Exact mapping: the two concepts are equivalent) Herva disease LCCS1 Multiple contracture syndrome, Finnish type Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C537194 OMIM:253310 UMLS:C1854664 Autosomal recessive Antenatal Neonatal Finland AND has_birth_prevalence_average_value : 3.96 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1486 Lethal congenital contracture syndrome type 1 ORPHA:1486 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537194 E (Exact mapping: the two concepts are equivalent) OMIM:253310 E (Exact mapping: the two concepts are equivalent) UMLS:C1854664 E (Exact mapping: the two concepts are equivalent) Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome ODP Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. Orphanet ICD-10:Q84.6 ICD-11:LD27.0Y MeSH:C537766 OMIM:106995 UMLS:C1862841 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1487 Cooks syndrome ORPHA:1487 ICD-10:Q84.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537766 E (Exact mapping: the two concepts are equivalent) OMIM:106995 E (Exact mapping: the two concepts are equivalent) UMLS:C1862841 E (Exact mapping: the two concepts are equivalent) Aural atresia-multiple congenital anomalies-intellectual disability syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.8 OMIM:209770 UMLS:C4303864 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1488 Cooper-Jabs syndrome ORPHA:1488 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:209770 E (Exact mapping: the two concepts are equivalent) UMLS:C4303864 E (Exact mapping: the two concepts are equivalent) Pertussis A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with <i>Bordetella pertussis</i>. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children. Orphanet ICD-10:A37.0 ICD-10:A37.1 ICD-10:A37.8 ICD-10:A37.9 ICD-11:1C12 ICD-11:1C12.0 ICD-11:1C12.1 ICD-11:1C12.Y MeSH:D014917 MedDRA:10047974 UMLS:C0043167 All ages Austria AND has_annual_incidence_average_value : 9.76 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 10.08 AND has_annual_incidence_range : 1-5 / 10 000 Bulgaria AND has_annual_incidence_average_value : 1.08 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 2.34 AND has_annual_incidence_range : 1-9 / 100 000 Cyprus AND has_annual_incidence_average_value : 0.88 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 10.7 AND has_annual_incidence_range : 1-5 / 10 000 Denmark AND has_annual_incidence_average_value : 19.16 AND has_annual_incidence_range : 1-5 / 10 000 Estonia AND has_annual_incidence_average_value : 4.66 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 8.9 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 5.1 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 15.4 AND has_annual_incidence_range : 1-5 / 10 000 Greece AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 5.3 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 3.58 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 8.48 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 2.22 AND has_annual_incidence_range : 1-9 / 100 000 Luxembourg AND has_annual_incidence_average_value : 2.14 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 0.52 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 31.72 AND has_annual_incidence_range : 1-5 / 10 000 Norway AND has_annual_incidence_average_value : 47.24 AND has_annual_incidence_range : 1-5 / 10 000 Poland AND has_annual_incidence_average_value : 10.6 AND has_annual_incidence_range : 1-5 / 10 000 Portugal AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Romania AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 10.5 AND has_annual_incidence_range : 1-5 / 10 000 Slovenia AND has_annual_incidence_average_value : 9.5 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 8.3 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 6.2 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 8.5 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1489 Whooping cough ORPHA:1489 ICD-11:1C12.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014917 E (Exact mapping: the two concepts are equivalent) MedDRA:10047974 E (Exact mapping: the two concepts are equivalent) UMLS:C0043167 E (Exact mapping: the two concepts are equivalent) ICD-10:A37.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A37.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A37.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A37.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C12.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C12.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). CDPD Corneal dystrophy with progressive deafness Corneal dystrophy with progressive hearing loss Corneal dystrophy-perceptive hearing loss syndrome Harboyan syndrome Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss. Orphanet ICD-10:H18.5 ICD-11:LD2H.Y MeSH:C535473 OMIM:217400 UMLS:C1857572 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1490 Corneal dystrophy-perceptive deafness syndrome ORPHA:1490 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535473 E (Exact mapping: the two concepts are equivalent) OMIM:217400 E (Exact mapping: the two concepts are equivalent) UMLS:C1857572 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Ben Ari-Shuper-Mimouni syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome ORPHA:1492 Corpus callosum agenesis-cataract-immunodeficiency syndrome Dionisi-Vici-Sabetta-Gambarara syndrome Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Orphanet ICD-10:Q87.8 ICD-11:4A01.1Y MeSH:C535566 OMIM:242840 UMLS:C1855772 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1493 Vici syndrome ORPHA:1493 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535566 E (Exact mapping: the two concepts are equivalent) OMIM:242840 E (Exact mapping: the two concepts are equivalent) UMLS:C1855772 E (Exact mapping: the two concepts are equivalent) Da Silva syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Orphanet ICD-10:Q87.8 UMLS:C4302530 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4302530 E (Exact mapping: the two concepts are equivalent) Andermann syndrome Charlevoix disease A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. Orphanet ICD-10:G60.0 ICD-11:LD20.Y MeSH:C536446 OMIM:218000 UMLS:C0795950 Autosomal recessive Antenatal Neonatal Specific population AND has_point_prevalence_average_value : 47.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1496 Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536446 E (Exact mapping: the two concepts are equivalent) OMIM:218000 E (Exact mapping: the two concepts are equivalent) UMLS:C0795950 E (Exact mapping: the two concepts are equivalent) A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed. Orphanet ICD-10:Q04.8 ICD-11:LD20.Y OMIM:304100 UMLS:C1839909 X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1497 X-linked complicated corpus callosum dysgenesis Clinical subtype ORPHA:1497 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:304100 E (Exact mapping: the two concepts are equivalent) UMLS:C1839909 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Cortada-Koussef-Matsumoto syndrome ORPHA:1499 A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. Orphanet ICD-10:Q77.4 ICD-11:LD24.00 MeSH:D000130 MedDRA:10000452 OMIM:100800 UMLS:C0001080 Autosomal dominant Neonatal Argentina AND has_birth_prevalence_average_value : 4.75 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Cameroon AND has_birth_prevalence_average_value : 16.53 AND has_birth_prevalence_range : 1-5 / 10 000 Cuba AND has_birth_prevalence_average_value : 4.42 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 2.37 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 3.62 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 5.645 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 4.76 AND has_birth_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 36.73 AND has_birth_prevalence_range : 1-5 / 10 000 Iraq AND has_birth_prevalence_average_value : 79.05 AND has_birth_prevalence_range : 6-9 / 10 000 Italy AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 Kuwait AND has_birth_prevalence_average_value : 12.92 AND has_birth_prevalence_range : 1-5 / 10 000 Latin America AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Lebanon AND has_birth_prevalence_average_value : 25.87 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 6.35 AND has_birth_prevalence_range : 1-9 / 100 000 Mexico AND has_birth_prevalence_average_value : 6.75 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 3.01 AND has_birth_prevalence_range : 1-9 / 100 000 Nigeria AND has_birth_prevalence_average_value : 18.11 AND has_birth_prevalence_range : 1-5 / 10 000 North America AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 2.39 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 4.47 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 48.14 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 2.6466 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 4.195 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 3.63 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Arab Emirates AND has_birth_prevalence_average_value : 10.51 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 3.7877 AND has_birth_prevalence_range : 1-9 / 100 000 Venezuela AND has_birth_prevalence_average_value : 14.25 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 4.73 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=15 Achondroplasia ORPHA:15 ICD-10:Q77.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000130 E (Exact mapping: the two concepts are equivalent) MedDRA:10000452 E (Exact mapping: the two concepts are equivalent) OMIM:100800 E (Exact mapping: the two concepts are equivalent) UMLS:C0001080 E (Exact mapping: the two concepts are equivalent) NCP Squamous cell carcinoma of the nasopharynx Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx. Orphanet ICD-10:C11.0 ICD-10:C11.1 ICD-10:C11.2 ICD-10:C11.3 ICD-11:2E60.0 MeSH:D000077274 MedDRA:10028793 OMIM:161550 OMIM:607107 OMIM:617075 UMLS:C2931822 Multigenic/multifactorial Not applicable All ages Austria AND has_annual_incidence_average_value : 0.337 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.317 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.766 AND has_annual_incidence_range : 1-9 / 1 000 000 China AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.423 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.437 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.177 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.383 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.207 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.618 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.254 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.228 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 1.256 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.288 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.264 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.426 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.491 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.394 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.779 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.462 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.211 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=150 Nasopharyngeal carcinoma ORPHA:150 ICD-10:C11.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C11.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C11.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C11.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000077274 E (Exact mapping: the two concepts are equivalent) MedDRA:10028793 E (Exact mapping: the two concepts are equivalent) OMIM:161550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607107 E (Exact mapping: the two concepts are equivalent) OMIM:617075 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931822 E (Exact mapping: the two concepts are equivalent) ACC A rare cancer that arises from the adrenal cortex. Orphanet ICD-10:C74.0 ICD-11:2D11.Z MeSH:D018268 MedDRA:10001388 OMIM:202300 UMLS:C0206686 Not applicable Childhood Austria AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.249 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.547 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.271 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.314 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.75 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.225 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.288 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.514 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.188 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.167 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.226 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.433 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.082 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.234 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.244 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.215 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.141 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.183 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1501 Adrenocortical carcinoma ORPHA:1501 ICD-10:C74.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2D11.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018268 E (Exact mapping: the two concepts are equivalent) MedDRA:10001388 E (Exact mapping: the two concepts are equivalent) OMIM:202300 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0206686 E (Exact mapping: the two concepts are equivalent) A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). Orphanet ICD-11:LD24.B0 MeSH:D012779 UMLS:C0036996 Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1505 Short rib-polydactyly syndrome Clinical group ORPHA:1505 ICD-11:LD24.B0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012779 E (Exact mapping: the two concepts are equivalent) UMLS:C0036996 E (Exact mapping: the two concepts are equivalent) Sharma-Kapoor-Ramji syndrome An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.5 MeSH:C537595 UMLS:C2931543 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1506 Thin ribs-tubular bones-dysmorphism syndrome ORPHA:1506 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537595 E (Exact mapping: the two concepts are equivalent) UMLS:C2931543 E (Exact mapping: the two concepts are equivalent) COVESDEM syndrome Costovertebral segmentation defect-mesomelia syndrome RRS Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. Orphanet ICD-10:Q87.1 ICD-11:LD24.A MeSH:C535863 OMIM:268310 OMIM:618529 UMLS:C1849334 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1507 Autosomal recessive Robinow syndrome Clinical subtype ORPHA:1507 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535863 E (Exact mapping: the two concepts are equivalent) OMIM:268310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618529 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1849334 E (Exact mapping: the two concepts are equivalent) A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:Q87.1 ICD-11:LD24.E MeSH:C565148 OMIM:122780 UMLS:C1852513 Unknown Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1508 Coxoauricular syndrome ORPHA:1508 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565148 E (Exact mapping: the two concepts are equivalent) OMIM:122780 E (Exact mapping: the two concepts are equivalent) UMLS:C1852513 E (Exact mapping: the two concepts are equivalent) Ischiocoxopodopatellar syndrome Ischiopatellar dysplasia Ischiopubicpatellar syndrome SPS Scott-Taor syndrome Small patella syndrome A rare genetic condition characterized by the association of patellar aplasia or hypoplasia, pelvic abnormalities, and foot malformations, with or without pulmonary arterial hypertension. Orphanet ICD-10:Q74.1 ICD-11:LD24.JY MeSH:C535540 MedDRA:10086423 OMIM:147891 UMLS:C1840061 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 47.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1509 Coxopodopatellar syndrome ORPHA:1509 ICD-10:Q74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.JY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535540 E (Exact mapping: the two concepts are equivalent) MedDRA:10086423 E (Exact mapping: the two concepts are equivalent) OMIM:147891 E (Exact mapping: the two concepts are equivalent) UMLS:C1840061 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hereditary papillary renal cell carcinoma OBSOLETE: Familial renal cell carcinoma ORPHA:151 Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Orphanet ICD-10:Q87.5 MeSH:C536452 OMIM:218090 UMLS:C1857532 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1512 Crane-Heise syndrome ORPHA:1512 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536452 E (Exact mapping: the two concepts are equivalent) OMIM:218090 E (Exact mapping: the two concepts are equivalent) UMLS:C1857532 E (Exact mapping: the two concepts are equivalent) Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. Orphanet ICD-10:M85.2 ICD-11:LD24.1Y MeSH:C562940 OMIM:122860 OMIM:218300 UMLS:C0410539 Autosomal dominant Autosomal recessive Not applicable Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1513 Craniodiaphyseal dysplasia ORPHA:1513 ICD-10:M85.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562940 E (Exact mapping: the two concepts are equivalent) OMIM:122860 E (Exact mapping: the two concepts are equivalent) OMIM:218300 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0410539 E (Exact mapping: the two concepts are equivalent) Scott craniodigital syndrome Scott-Bryant-Graham syndrome Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Orphanet ICD-10:Q87.0 MeSH:C537528 OMIM:312860 UMLS:C1839311 Autosomal recessive X-linked recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1514 Craniodigital-intellectual disability syndrome ORPHA:1514 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537528 E (Exact mapping: the two concepts are equivalent) OMIM:312860 E (Exact mapping: the two concepts are equivalent) UMLS:C1839311 E (Exact mapping: the two concepts are equivalent) CED Sensenbrenner syndrome Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). Orphanet ICD-10:Q87.5 ICD-11:LD27.0Y OMIM:218330 OMIM:613610 OMIM:614099 OMIM:614378 OMIM:617102 UMLS:C4551571 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1515 Cranioectodermal dysplasia ORPHA:1515 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:218330 E (Exact mapping: the two concepts are equivalent) OMIM:613610 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614099 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614378 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617102 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551571 E (Exact mapping: the two concepts are equivalent) BLSS Bilateral lambdoid and sagittal synostosis Isolated sagittal and bilambdoid craniosynostosis Non-syndromic sagittal and bilateral lambdoid synostosis A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. Orphanet ICD-10:Q87.0 MeSH:C536455 OMIM:218350 UMLS:C1857511 Autosomal recessive Neonatal Spain AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1516 Non-syndromic bilambdoid and sagittal craniosynostosis ORPHA:1516 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536455 E (Exact mapping: the two concepts are equivalent) OMIM:218350 E (Exact mapping: the two concepts are equivalent) UMLS:C1857511 E (Exact mapping: the two concepts are equivalent) Congenital hypertrichosis-acromegaloid facial features spectrum Congenital hypertrichosis-coarse facial features spectrum Hypertrichotic osteochondrodysplasia Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. Orphanet ICD-10:Q78.8 ICD-11:LD2F.1Y MeSH:C535572 OMIM:239850 UMLS:C0795905 Autosomal dominant Not applicable Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1517 Cantú syndrome ORPHA:1517 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535572 E (Exact mapping: the two concepts are equivalent) OMIM:239850 E (Exact mapping: the two concepts are equivalent) UMLS:C0795905 E (Exact mapping: the two concepts are equivalent) Brachycephalofrontonasal dysplasia Teebi hypertelorism syndrome A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. Orphanet ICD-10:Q87.0 OMIM:145420 UMLS:C0796179 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1519 SPECC1L-related hypertelorism syndrome ORPHA:1519 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:145420 E (Exact mapping: the two concepts are equivalent) UMLS:C0796179 E (Exact mapping: the two concepts are equivalent) CFND CFNS Craniofrontonasal syndrome A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Orphanet ICD-10:Q87.1 ICD-11:LD25.3 MeSH:C536456 OMIM:304110 UMLS:C0220767 X-linked dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1520 Craniofrontonasal dysplasia ORPHA:1520 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536456 E (Exact mapping: the two concepts are equivalent) OMIM:304110 E (Exact mapping: the two concepts are equivalent) UMLS:C0220767 E (Exact mapping: the two concepts are equivalent) Webster-Deming syndrome A rare frontonasal dysplasia characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q87.8 UMLS:C4303859 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1521 Craniofrontonasal dysplasia-Poland anomaly syndrome ORPHA:1521 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303859 E (Exact mapping: the two concepts are equivalent) Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. Orphanet ICD-10:Q78.8 ICD-11:LD24.1Y OMIM:123000 OMIM:218400 UMLS:C0265292 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 160.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1522 Craniometaphyseal dysplasia ORPHA:1522 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:123000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:218400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265292 E (Exact mapping: the two concepts are equivalent) A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. Orphanet ICD-10:Q87.0 ICD-11:LD24.GY MeSH:C566522 OMIM:602558 UMLS:C1865184 Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1524 Craniomicromelic syndrome ORPHA:1524 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566522 E (Exact mapping: the two concepts are equivalent) OMIM:602558 E (Exact mapping: the two concepts are equivalent) UMLS:C1865184 E (Exact mapping: the two concepts are equivalent) Currarino disease Currarino idiopathic osteoarthropathy Reginato-Schiapachasse syndrome Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Orphanet ICD-10:M89.4 ICD-11:FB86.10 OMIM:259100 UMLS:C2678439 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1525 Cranio-osteoarthropathy ORPHA:1525 ICD-10:M89.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:259100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2678439 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Acro-cephalo-synostosis OBSOLETE: Allain-Babin-Demarquez syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome ORPHA:1526 Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. Orphanet ICD-10:Q87.0 ICD-11:LD24.GY MeSH:C563368 OMIM:185900 UMLS:C1832590 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1527 Craniosynostosis, Philadelphia type ORPHA:1527 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563368 E (Exact mapping: the two concepts are equivalent) OMIM:185900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1832590 E (Exact mapping: the two concepts are equivalent) Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MeSH:C535597 OMIM:218670 UMLS:C1857471 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1528 Craniotelencephalic dysplasia ORPHA:1528 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535597 E (Exact mapping: the two concepts are equivalent) OMIM:218670 E (Exact mapping: the two concepts are equivalent) UMLS:C1857471 E (Exact mapping: the two concepts are equivalent) CDHS Craniofacial-hearing loss-hand syndrome Sommer-Young-Wee-Frye syndrome A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand. Orphanet ICD-10:Q87.0 ICD-11:LD2H.Y MeSH:C536453 OMIM:122880 UMLS:C1852510 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1529 Craniofacial-deafness-hand syndrome ORPHA:1529 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536453 E (Exact mapping: the two concepts are equivalent) OMIM:122880 E (Exact mapping: the two concepts are equivalent) UMLS:C1852510 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic craniosynostosis OBSOLETE: Craniosynostosis-cataract syndrome ORPHA:1530 Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. Orphanet ICD-10:Q75.0 ICD-11:LB70.0 MeSH:D003398 MedDRA:10049889 UMLS:C0010278 Autosomal dominant Autosomal recessive Not applicable Unknown X-linked recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 49.4 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 24.3 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 47.6 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1531 Craniosynostosis Category ORPHA:1531 ICD-10:Q75.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003398 E (Exact mapping: the two concepts are equivalent) MedDRA:10049889 E (Exact mapping: the two concepts are equivalent) UMLS:C0010278 E (Exact mapping: the two concepts are equivalent) Cerebellotrigeminal-dermal dysplasia syndrome Craniosynostosis-alopecia-brain defect syndrome A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. Orphanet ICD-10:Q07.8 MeSH:C537285 OMIM:601853 UMLS:C0795959 Not applicable Neonatal Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1532 Gómez-López-Hernández syndrome ORPHA:1532 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537285 E (Exact mapping: the two concepts are equivalent) OMIM:601853 E (Exact mapping: the two concepts are equivalent) UMLS:C0795959 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Lowry syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic craniosynostosis OBSOLETE: Craniosynostosis-fibular aplasia syndrome ORPHA:1533 OBSOLETE: Imaizumi-Kuroki syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic craniosynostosis OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type ORPHA:1534 Glass-Chapman-Hockley syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Muenke syndrome Craniosynostosis-dysmorphism-brachydactyly syndrome ORPHA:1535 Braddock-Jones-Superneau syndrome A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Orphanet ICD-10:Q03.1 ICD-11:LD2F.1Y OMIM:123155 UMLS:C4304196 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538 ICD-10:Q03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:123155 E (Exact mapping: the two concepts are equivalent) UMLS:C4304196 E (Exact mapping: the two concepts are equivalent) Familial or idiopathic dilated cardiomyopathy A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present. Orphanet ICD-10:I42.0 ICD-11:BC43.00 OMIM:115200 OMIM:302045 OMIM:600884 OMIM:601154 OMIM:601493 OMIM:601494 OMIM:604145 OMIM:604288 OMIM:604765 OMIM:605582 OMIM:606685 OMIM:607482 OMIM:608569 OMIM:609909 OMIM:609915 OMIM:611407 OMIM:611615 OMIM:611878 OMIM:611879 OMIM:611880 OMIM:612158 OMIM:612877 OMIM:613122 OMIM:613172 OMIM:613252 OMIM:613286 OMIM:613424 OMIM:613426 OMIM:613642 OMIM:613694 OMIM:613697 OMIM:613881 OMIM:614672 OMIM:615184 OMIM:615235 OMIM:615248 OMIM:615373 OMIM:615396 OMIM:615916 OMIM:618189 OMIM:619371 OMIM:619492 OMIM:619747 OMIM:619897 OMIM:620203 UMLS:C5679590 Autosomal dominant Autosomal recessive Mitochondrial inheritance X-linked recessive All ages Europe AND has_annual_incidence_average_value : 2.91 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 17.5 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=154 Familial isolated dilated cardiomyopathy ORPHA:154 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:115200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:302045 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600884 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601154 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601493 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601494 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604145 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604288 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604765 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605582 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606685 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607482 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608569 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609909 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609915 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611407 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611615 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611878 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611879 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611880 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612158 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612877 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613122 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613172 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613252 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613286 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613424 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613426 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613642 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613694 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613697 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613881 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614672 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615184 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615235 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615248 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615373 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615396 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615916 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618189 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619371 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619492 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619747 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619897 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620203 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679590 E (Exact mapping: the two concepts are equivalent) Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome JWS Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. Orphanet ICD-10:Q87.8 MeSH:C537559 OMIM:123150 UMLS:C0795998 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1540 Jackson-Weiss syndrome ORPHA:1540 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537559 E (Exact mapping: the two concepts are equivalent) OMIM:123150 E (Exact mapping: the two concepts are equivalent) UMLS:C0795998 E (Exact mapping: the two concepts are equivalent) Craniosynostosis, Warman type Warman-Mulliken-Hayward syndrome Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. Orphanet ICD-10:Q75.8 ICD-11:LD24.GY MeSH:C565753 OMIM:604757 UMLS:C1858160 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1541 Craniosynostosis, Boston type ORPHA:1541 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565753 E (Exact mapping: the two concepts are equivalent) OMIM:604757 E (Exact mapping: the two concepts are equivalent) UMLS:C1858160 E (Exact mapping: the two concepts are equivalent) Adolescent benign focal crisis A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy. Orphanet ICD-10:G40.8 ICD-11:8A6Y UMLS:C4275141 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1544 Benign focal seizures of adolescence ORPHA:1544 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275141 E (Exact mapping: the two concepts are equivalent) Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Orphanet ICD-10:G90.8 ICD-11:LD26.41 MeSH:C536214 OMIM:272430 UMLS:C1832409 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1545 Crisponi syndrome ORPHA:1545 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536214 E (Exact mapping: the two concepts are equivalent) OMIM:272430 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1832409 E (Exact mapping: the two concepts are equivalent) A cosmopolitan fungal infection due to <i>Cryptococcus neoformans</i>. Orphanet ICD-10:B45.0 ICD-10:B45.1 ICD-10:B45.2 ICD-10:B45.3 ICD-10:B45.7 ICD-10:B45.8 ICD-10:B45.9 ICD-11:1D01.10 ICD-11:1F27 ICD-11:1F27.0 ICD-11:1F27.1 ICD-11:1F27.2 ICD-11:1F27.Y MeSH:D003453 MedDRA:10011490 UMLS:C0010414 Not applicable All ages Europe AND has_annual_incidence_average_value : 11.0 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1546 Cryptococcosis ORPHA:1546 ICD-10:B45.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B45.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B45.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B45.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B45.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B45.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B45.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D01.10 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F27 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F27.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F27.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F27.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F27.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003453 E (Exact mapping: the two concepts are equivalent) MedDRA:10011490 E (Exact mapping: the two concepts are equivalent) UMLS:C0010414 E (Exact mapping: the two concepts are equivalent) Cryptomicrotia-brachydactyly syndrome Tonoki-Ohura-Niikawa syndrome A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q87.8 MeSH:C536219 OMIM:123560 UMLS:C1852454 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome ORPHA:1547 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536219 E (Exact mapping: the two concepts are equivalent) OMIM:123560 E (Exact mapping: the two concepts are equivalent) UMLS:C1852454 E (Exact mapping: the two concepts are equivalent) Van Benthem-Driessen-Hanveld syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. Orphanet ICD-10:Q87.8 UMLS:C4707233 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707233 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:A07.2 NON RARE IN EUROPE: Cryptosporidiosis ORPHA:1549 ICD-10:A07.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). NON RARE IN EUROPE: Familial isolated hypertrophic obstructive cardiomyopathy NON RARE IN EUROPE: Familial isolated hypertrophic subaortic stenosis NON RARE IN EUROPE: Familial or idiopathic hypertrophic subaortic stenosis NON RARE IN EUROPE: Familila or idiopathic hypertrophic obstructive cardiomyopathy NON RARE IN EUROPE: Hypertrophic obstructive cardiomyopathy NON RARE IN EUROPE: Primitive hypertrophic obstructive cardiomyopathy NON RARE IN EUROPE: Primitive hypertrophic subaortic stenosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy ORPHA:155 Familial benign hypocupremia Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:E83.0 ICD-11:5C64.0Y MeSH:C535468 OMIM:121270 UMLS:C1852576 Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1551 Familial benign copper deficiency ORPHA:1551 ICD-10:E83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535468 E (Exact mapping: the two concepts are equivalent) OMIM:121270 E (Exact mapping: the two concepts are equivalent) UMLS:C1852576 E (Exact mapping: the two concepts are equivalent) Currarino triad A rare developmental defect during embryogenesis characterized by the triad of anorectal malformations, presacral mass and sacral anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536221 MedDRA:10079857 OMIM:176450 UMLS:C1531773 Autosomal dominant Not applicable All ages Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1552 Currarino syndrome ORPHA:1552 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536221 E (Exact mapping: the two concepts are equivalent) MedDRA:10079857 E (Exact mapping: the two concepts are equivalent) OMIM:176450 E (Exact mapping: the two concepts are equivalent) UMLS:C1531773 E (Exact mapping: the two concepts are equivalent) Corpus callosum agenesis-polysyndactyly syndrome Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Orphanet ICD-10:Q87.0 OMIM:601707 UMLS:C0795915 Not applicable Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1553 Curry-Jones syndrome ORPHA:1553 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601707 E (Exact mapping: the two concepts are equivalent) UMLS:C0795915 E (Exact mapping: the two concepts are equivalent) Beare-Stevenson cutis gyrata syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C565129 OMIM:123790 UMLS:C1852406 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565129 E (Exact mapping: the two concepts are equivalent) OMIM:123790 E (Exact mapping: the two concepts are equivalent) UMLS:C1852406 E (Exact mapping: the two concepts are equivalent) CMTC Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. Orphanet ICD-10:Q82.8 ICD-11:LC52 MeSH:C536226 OMIM:219250 UMLS:C0345419 Not applicable Neonatal Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1556 Cutis marmorata telangiectatica congenita ORPHA:1556 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536226 E (Exact mapping: the two concepts are equivalent) OMIM:219250 E (Exact mapping: the two concepts are equivalent) UMLS:C0345419 E (Exact mapping: the two concepts are equivalent) McDowall syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata Cutis verticis gyrata-intellectual disability syndrome ORPHA:1557 UMLS:C5680631 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155832 Rare head and neck malformation Category ORPHA:155832 UMLS:C5680631 E (Exact mapping: the two concepts are equivalent) UMLS:C5680632 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155835 Cysts and fistulae of the face and oral cavity Category ORPHA:155835 UMLS:C5680632 E (Exact mapping: the two concepts are equivalent) Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. Orphanet ICD-10:Q18.1 ICD-11:LA21.Y UMLS:C5680633 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155838 Pinnae fistula or cyst ORPHA:155838 ICD-10:Q18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680633 E (Exact mapping: the two concepts are equivalent) Tessier number 1-1 and 2-12 facial cleft UMLS:C4703416 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155867 Paramedian facial cleft Clinical group ORPHA:155867 UMLS:C4703416 E (Exact mapping: the two concepts are equivalent) A rare form of cleft palate characterized by congenital muscular diastasis of the soft palate along the midline with an intact oral and nasal mucosal lining. It is diagnosed by the triad of a bifid uvula, a translucent zone in the soft palate, and a bony notch in the posterior edge of the hard palate, all of which may vary in severity. Velopharyngeal insufficiency in the absence of this triad is classified as occult submucosal cleft palate. Patients may be asymptomatic or present with early feeding problems with fluid reflux through the nose, speech problems, recurrent otitis media with effusions, and hearing loss. Orphanet ICD-10:Q35.9 ICD-11:LA4Y UMLS:C4551487 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155878 Submucosal cleft palate ORPHA:155878 ICD-10:Q35.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4551487 E (Exact mapping: the two concepts are equivalent) Superior palpebral coloboma Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. Orphanet ICD-10:Q10.3 UMLS:C1863872 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155884 Coloboma of superior eyelid ORPHA:155884 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1863872 E (Exact mapping: the two concepts are equivalent) Inferior palpebral coloboma Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. Orphanet ICD-10:Q10.3 UMLS:C1837826 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155889 Coloboma of inferior eyelid ORPHA:155889 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1837826 E (Exact mapping: the two concepts are equivalent) ICD-11:LD2F.16 UMLS:C5680658 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155896 Otomandibular dysplasia Category ORPHA:155896 ICD-11:LD2F.16 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680658 E (Exact mapping: the two concepts are equivalent) Bilateral and symmetric oto-mandibular dysplasia ICD-10:Q75.4 ICD-11:LD2F.16 MeSH:D008342 MedDRA:10051456 UMLS:C0242387 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=155899 Mandibulofacial dysostosis Clinical group ORPHA:155899 ICD-10:Q75.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD2F.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008342 E (Exact mapping: the two concepts are equivalent) MedDRA:10051456 E (Exact mapping: the two concepts are equivalent) UMLS:C0242387 E (Exact mapping: the two concepts are equivalent) CPT1A deficiency Carnitine palmitoyl transferase IA deficiency Hepatic carnitine palmitoyl transferase 1 deficiency Hepatic carnitine palmitoyl transferase I deficiency L-CPT1 deficiency L-CPTI deficiency Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. Orphanet ICD-10:E71.3 ICD-11:5C52.00 MeSH:C535588 OMIM:255120 UMLS:C1829703 Autosomal recessive Infancy Neonatal Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156 Carnitine palmitoyl transferase 1A deficiency ORPHA:156 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C52.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535588 E (Exact mapping: the two concepts are equivalent) OMIM:255120 E (Exact mapping: the two concepts are equivalent) UMLS:C1829703 E (Exact mapping: the two concepts are equivalent) Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of <i>Taenia solium</i> (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. Orphanet ICD-10:B69.0 ICD-10:B69.1 ICD-10:B69.8 ICD-10:B69.9 ICD-11:1F70 ICD-11:1F70.0 ICD-11:1F70.00 ICD-11:1F70.1 ICD-11:1F70.Y MeSH:D003551 MedDRA:10011775 UMLS:C0010678 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1560 Cysticercosis ORPHA:1560 ICD-10:B69.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B69.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B69.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B69.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F70.00 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F70.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F70.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003551 E (Exact mapping: the two concepts are equivalent) MedDRA:10011775 E (Exact mapping: the two concepts are equivalent) UMLS:C0010678 E (Exact mapping: the two concepts are equivalent) UMLS:C5680656 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156005 Primary early-onset glaucoma Clinical group ORPHA:156005 UMLS:C5680656 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic keratoconus OBSOLETE: Keratoconus ORPHA:156071 14q13.3 TTF-1 TTF1 ClinVar:NKX2-1 Ensembl:ENSG00000136352 Genatlas:NKX2-1 HGNC:11825 OMIM:600635 Reactome:P43699 SwissProt:P43699 NKX2-1 NK2 homeobox 1 Fatal infantile COX deficiency Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. Orphanet ICD-10:G71.3 ICD-11:8C73.Y OMIM:604377 OMIM:615119 OMIM:616500 OMIM:616501 UMLS:C4273730 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1561 Fatal infantile cytochrome C oxidase deficiency ORPHA:1561 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:604377 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615119 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616501 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4273730 E (Exact mapping: the two concepts are equivalent) UMLS:C5680657 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156140 Predominantly large-vessel vasculitis Clinical group ORPHA:156140 UMLS:C5680657 E (Exact mapping: the two concepts are equivalent) UMLS:C5680654 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156143 Predominantly medium-vessel vasculitis Clinical group ORPHA:156143 UMLS:C5680654 E (Exact mapping: the two concepts are equivalent) UMLS:C5680653 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156146 Predominantly small-vessel vasculitis Clinical group ORPHA:156146 UMLS:C5680653 E (Exact mapping: the two concepts are equivalent) UMLS:C5680655 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156149 Immune complex mediated vasculitis Category ORPHA:156149 UMLS:C5680655 E (Exact mapping: the two concepts are equivalent) AAV ANCA-associated vasculitis Antineutrophil cytoplasmic antibody-associated vasculitis ICD-11:4A44.A MeSH:D056648 UMLS:C2717865 Europe AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 14.9 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 3.3 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 42.1 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis Clinical group ORPHA:156152 ICD-11:4A44.A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D056648 E (Exact mapping: the two concepts are equivalent) UMLS:C2717865 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Atypical Werner syndrome Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy ORPHA:156156 Pure dystonia UMLS:C5679608 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156159 Isolated dystonia Category ORPHA:156159 UMLS:C5679608 E (Exact mapping: the two concepts are equivalent) UMLS:C5680652 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156162 Renal ciliopathy Category ORPHA:156162 UMLS:C5680652 E (Exact mapping: the two concepts are equivalent) UMLS:C5680651 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156165 Retinal ciliopathy Category ORPHA:156165 UMLS:C5680651 E (Exact mapping: the two concepts are equivalent) Retinal ciliopathy due to mutation in RP1 gene UMLS:C5679609 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Category ORPHA:156168 UMLS:C5679609 E (Exact mapping: the two concepts are equivalent) UMLS:C5680669 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156171 Retinal ciliopathy due to mutation in the RPGR gene Category ORPHA:156171 UMLS:C5680669 E (Exact mapping: the two concepts are equivalent) UMLS:C5680670 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156174 Retinal ciliopathy due to mutation in the RPGRIP gene Category ORPHA:156174 UMLS:C5680670 E (Exact mapping: the two concepts are equivalent) UMLS:C5680671 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156177 Retinal ciliopathy due to mutation in Usher gene Category ORPHA:156177 UMLS:C5680671 E (Exact mapping: the two concepts are equivalent) UMLS:C5680666 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156180 Retinal ciliopathy due to mutation in nephronophthisis gene Category ORPHA:156180 UMLS:C5680666 E (Exact mapping: the two concepts are equivalent) UMLS:C5680667 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene Category ORPHA:156183 UMLS:C5680667 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Gunal-Seber-Basaran syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with increased bone density OBSOLETE: Dacryocystitis-osteopoikilosis syndrome ORPHA:1562 UMLS:C5680668 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156202 Otomandibular dysplasia associated with monogenic syndromes Category ORPHA:156202 UMLS:C5680668 E (Exact mapping: the two concepts are equivalent) ICD-10:Q38.2 ICD-11:DA03.5 MeSH:D008260 MedDRA:10025391 UMLS:C0024421 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156207 Macroglossia Category ORPHA:156207 ICD-10:Q38.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DA03.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008260 E (Exact mapping: the two concepts are equivalent) MedDRA:10025391 E (Exact mapping: the two concepts are equivalent) UMLS:C0024421 E (Exact mapping: the two concepts are equivalent) ICD-10:Q38.3 ICD-11:LA31.1 UMLS:C5680662 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156212 Hypoglossia/aglossia Category ORPHA:156212 ICD-10:Q38.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA31.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680662 E (Exact mapping: the two concepts are equivalent) ICD-11:LD25.0 UMLS:C5680663 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156215 Oromandibular-limb anomalies syndrome Category ORPHA:156215 ICD-11:LD25.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680663 E (Exact mapping: the two concepts are equivalent) UMLS:C5680664 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156224 Paralytic facial malformation Category ORPHA:156224 UMLS:C5680664 E (Exact mapping: the two concepts are equivalent) Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy. Orphanet UMLS:C5680665 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156230 Facial arteriovenous malformation Clinical group ORPHA:156230 UMLS:C5680665 E (Exact mapping: the two concepts are equivalent) UMLS:C5680659 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156237 Syndrome or malformation associated with head and neck malformations Category ORPHA:156237 UMLS:C5680659 E (Exact mapping: the two concepts are equivalent) UMLS:C5680660 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156243 Pinnae and external auditory canal anomaly Category ORPHA:156243 UMLS:C5680660 E (Exact mapping: the two concepts are equivalent) ICD-11:LA70 UMLS:C5680661 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156246 Nose and cavum anomaly Category ORPHA:156246 ICD-11:LA70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680661 E (Exact mapping: the two concepts are equivalent) ICD-10:Q31 ICD-11:LA71 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156249 Larynx anomaly Category ORPHA:156249 ICD-10:Q31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA73 UMLS:C5680647 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156252 Tracheal anomaly Category ORPHA:156252 ICD-11:LA73 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680647 E (Exact mapping: the two concepts are equivalent) Dahlberg syndrome Lymphedema-hypoparathyroidism syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C535769 OMIM:247410 UMLS:C1855477 Autosomal recessive X-linked recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1563 Dahlberg-Borer-Newcomer syndrome ORPHA:1563 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535769 E (Exact mapping: the two concepts are equivalent) OMIM:247410 E (Exact mapping: the two concepts are equivalent) UMLS:C1855477 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PHACE syndrome Dandy-Walker malformation-facial hemangioma syndrome ORPHA:1564 UMLS:C5680646 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156532 Rare syndrome with cardiac malformations Category ORPHA:156532 UMLS:C5680646 E (Exact mapping: the two concepts are equivalent) DWM with postaxial polydactyly Pierquin syndrome A rare congenital limb malformation characterized by Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation (characterized by posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus) has a variable expression. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. There have been no further descriptions in the literature since 1999. Orphanet ICD-10:Q87.8 MeSH:C535771 OMIM:220220 UMLS:C1857351 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1566 Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535771 E (Exact mapping: the two concepts are equivalent) OMIM:220220 E (Exact mapping: the two concepts are equivalent) UMLS:C1857351 E (Exact mapping: the two concepts are equivalent) UMLS:C5680645 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156601 Rare genetic hepatic disease Category ORPHA:156601 UMLS:C5680645 E (Exact mapping: the two concepts are equivalent) UMLS:C5680644 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156604 Genetic parenchymatous liver disease Category ORPHA:156604 UMLS:C5680644 E (Exact mapping: the two concepts are equivalent) UMLS:C5680643 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156607 Genetic biliary tract disease Category ORPHA:156607 UMLS:C5680643 E (Exact mapping: the two concepts are equivalent) UMLS:C5680642 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156610 Rare genetic respiratory disease Category ORPHA:156610 UMLS:C5680642 E (Exact mapping: the two concepts are equivalent) UMLS:C5680641 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156619 Rare genetic urogenital disease Category ORPHA:156619 UMLS:C5680641 E (Exact mapping: the two concepts are equivalent) UMLS:C5680640 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156622 Genetic urogenital tract malformation Category ORPHA:156622 UMLS:C5680640 E (Exact mapping: the two concepts are equivalent) UMLS:C5680639 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156629 Rare genetic cause of hypertension Category ORPHA:156629 UMLS:C5680639 E (Exact mapping: the two concepts are equivalent) UMLS:C5680638 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156638 Rare genetic endocrine disease Category ORPHA:156638 UMLS:C5680638 E (Exact mapping: the two concepts are equivalent) UMLS:C5680637 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156643 Genetic endocrine growth disease Category ORPHA:156643 UMLS:C5680637 E (Exact mapping: the two concepts are equivalent) Short ribs-craniosynostosis-polysyndactyly syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Boomerang dysplasia Piepkorn dysplasia ORPHA:156723 SEMD, MATN3-related SEMD, matrilin-3 type A rare primary bone dysplasia due to matrilin-3 varaints and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C563869 OMIM:608728 UMLS:C1837481 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type ORPHA:156728 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563869 E (Exact mapping: the two concepts are equivalent) OMIM:608728 E (Exact mapping: the two concepts are equivalent) UMLS:C1837481 E (Exact mapping: the two concepts are equivalent) ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C537999 OMIM:224400 UMLS:C0432209 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=156731 Dyssegmental dysplasia, Rolland-Desbuquois type ORPHA:156731 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537999 E (Exact mapping: the two concepts are equivalent) OMIM:224400 E (Exact mapping: the two concepts are equivalent) UMLS:C0432209 E (Exact mapping: the two concepts are equivalent) Pettigrew Syndrome A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Orphanet ICD-10:Q04.8 ICD-11:LD90 MeSH:C535773 OMIM:304340 UMLS:C0796254 X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535773 E (Exact mapping: the two concepts are equivalent) OMIM:304340 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0796254 E (Exact mapping: the two concepts are equivalent) Xeroderma pigmentosum with neurologic manifestation This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum MeSH:C535992 OMIM:278800 UMLS:C0265201 De Sanctis-Cacchione syndrome ORPHA:1569 MeSH:C535992 E (Exact mapping: the two concepts are equivalent) OMIM:278800 E (Exact mapping: the two concepts are equivalent) UMLS:C0265201 E (Exact mapping: the two concepts are equivalent) CPT2 CPTII Carnitine palmitoyltransferase deficiency type 2 Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms). Orphanet ICD-10:E71.3 ICD-11:5C52.00 MeSH:C535589 OMIM:255110 OMIM:600649 OMIM:608836 UMLS:C0342790 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157 Carnitine palmitoyltransferase II deficiency ORPHA:157 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535589 E (Exact mapping: the two concepts are equivalent) OMIM:255110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600649 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608836 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342790 E (Exact mapping: the two concepts are equivalent) De Smet-Fabry-Fryns syndrome Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. Orphanet ICD-10:Q73.8 ICD-11:LB75.2 MeSH:C538062 UMLS:C2931719 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1570 Symbrachydactyly of hands and feet ORPHA:1570 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB75.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538062 E (Exact mapping: the two concepts are equivalent) UMLS:C2931719 E (Exact mapping: the two concepts are equivalent) Knobloch-Layer syndrome Retinal detachment-occipital encephalocele syndrome A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele. Orphanet ICD-10:Q15.8 ICD-11:LD2F.1Y MeSH:C537209 OMIM:267750 OMIM:618458 UMLS:C1849409 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 119.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1571 Knobloch syndrome ORPHA:1571 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537209 E (Exact mapping: the two concepts are equivalent) OMIM:267750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618458 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1849409 E (Exact mapping: the two concepts are equivalent) CVID Idiopathic immunoglobulin deficiency Primary antibody deficiency Primary hypogammaglobulinemia Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. Orphanet ICD-10:D83.0 ICD-10:D83.1 ICD-10:D83.2 ICD-10:D83.8 ICD-10:D83.9 ICD-11:4A01.0Y MeSH:D017074 MedDRA:10010112 OMIM:146830 OMIM:240500 OMIM:607594 OMIM:613493 OMIM:613494 OMIM:613495 OMIM:613496 OMIM:614699 OMIM:615577 OMIM:616576 UMLS:C0009447 Autosomal dominant Autosomal recessive Not applicable All ages Australia AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.52 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.72 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 2.3 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 0.87 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_point_prevalence_average_value : 0.073 AND has_point_prevalence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.66 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1572 Common variable immunodeficiency ORPHA:1572 ICD-10:D83.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D83.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D83.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D83.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D83.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017074 E (Exact mapping: the two concepts are equivalent) MedDRA:10010112 E (Exact mapping: the two concepts are equivalent) OMIM:146830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:240500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607594 E (Exact mapping: the two concepts are equivalent) OMIM:613493 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613494 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613495 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613496 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614699 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615577 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616576 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0009447 E (Exact mapping: the two concepts are equivalent) HHRH A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Orphanet ICD-10:E83.3 ICD-11:5C63.22 MeSH:C562793 OMIM:241530 UMLS:C1853271 Autosomal dominant Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157215 Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562793 E (Exact mapping: the two concepts are equivalent) OMIM:241530 E (Exact mapping: the two concepts are equivalent) UMLS:C1853271 E (Exact mapping: the two concepts are equivalent) HJMD Hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Orphanet ICD-10:Q84.0 ICD-11:LD27.0Y MeSH:C537698 OMIM:601553 UMLS:C1832162 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1573 Hypotrichosis with juvenile macular degeneration ORPHA:1573 ICD-10:Q84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537698 E (Exact mapping: the two concepts are equivalent) OMIM:601553 E (Exact mapping: the two concepts are equivalent) UMLS:C1832162 E (Exact mapping: the two concepts are equivalent) Mackay-Shek-Carr syndrome Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. Orphanet ICD-10:H35.5 ICD-11:9E1Y MeSH:C538364 OMIM:267760 UMLS:C2931831 Autosomal recessive Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1574 Retinal degeneration-nanophthalmos-glaucoma syndrome ORPHA:1574 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9E1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538364 E (Exact mapping: the two concepts are equivalent) OMIM:267760 E (Exact mapping: the two concepts are equivalent) UMLS:C2931831 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial infantile bilateral striatal necrosis OBSOLETE: Infantile striatothalamic degeneration ORPHA:1575 IBSN Infantile striatonigral degeneration Infantile striatonigral necrosis Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms). Orphanet MeSH:C537500 OMIM:271930 OMIM:500003 UMLS:C0795996 Autosomal dominant Autosomal recessive Mitochondrial inheritance Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1576 Infantile bilateral striatal necrosis Clinical group ORPHA:1576 MeSH:C537500 E (Exact mapping: the two concepts are equivalent) OMIM:271930 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:500003 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0795996 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Symmetrical thalamic calcifications OBSOLETE: Infantile thalamic degeneration ORPHA:1577 ICD-10:E75.2 ICD-11:8A44.3 OMIM:603896 UMLS:C5680650 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157713 Congenital or early infantile CACH syndrome Clinical subtype ORPHA:157713 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:603896 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680650 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:8A44.3 OMIM:603896 UMLS:C5680648 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157716 Late infantile CACH syndrome Clinical subtype ORPHA:157716 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:603896 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680648 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:8A44.3 OMIM:603896 UMLS:C5680649 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157719 Juvenile or adult CACH syndrome Clinical subtype ORPHA:157719 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:603896 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680649 E (Exact mapping: the two concepts are equivalent) Incomplete situs inversus Partial situs inversus Situs ambiguous A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed. Orphanet ICD-10:Q89.3 MedDRA:10059119 UMLS:C0266642 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157769 Situs ambiguus ORPHA:157769 ICD-10:Q89.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10059119 E (Exact mapping: the two concepts are equivalent) UMLS:C0266642 E (Exact mapping: the two concepts are equivalent) Hypospadias-hypertelorism-coloboma and hearing loss syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Branchioskeletogenital syndrome UMLS:C1863870 Hypospadias-hypertelorism-coloboma and deafness syndrome ORPHA:157788 UMLS:C1863870 E (Exact mapping: the two concepts are equivalent) A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low. Orphanet ICD-10:D48.1 ICD-11:2B5Y ICD-11:XH9GF8 MeSH:D018323 UMLS:C0206732 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157791 Epithelioid hemangioendothelioma ORPHA:157791 ICD-10:D48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH9GF8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018323 E (Exact mapping: the two concepts are equivalent) UMLS:C0206732 E (Exact mapping: the two concepts are equivalent) HMPS Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. Orphanet ICD-10:D12.6 ICD-11:2E92.40 OMIM:601228 OMIM:610069 UMLS:C5192681 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157794 Hereditary mixed polyposis syndrome ORPHA:157794 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E92.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601228 E (Exact mapping: the two concepts are equivalent) OMIM:610069 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5192681 E (Exact mapping: the two concepts are equivalent) Hyperplastic polyposis syndrome A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. Orphanet ICD-10:D12.6 ICD-11:2E92.40 MedDRA:10085922 OMIM:617108 UMLS:C4296896 Autosomal dominant Multigenic/multifactorial Unknown Adult Elderly Europe AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157798 Serrated polyposis syndrome ORPHA:157798 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E92.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10085922 E (Exact mapping: the two concepts are equivalent) OMIM:617108 E (Exact mapping: the two concepts are equivalent) UMLS:C4296896 E (Exact mapping: the two concepts are equivalent) Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency Hyperphenylalaninemia with primapterinuria A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. Orphanet ICD-10:E70.1 ICD-11:5C59.01 MeSH:C538382 OMIM:264070 UMLS:C1849700 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1578 Pterin-4 alpha-carbinolamine dehydratase deficiency Clinical subtype ORPHA:1578 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538382 E (Exact mapping: the two concepts are equivalent) OMIM:264070 E (Exact mapping: the two concepts are equivalent) UMLS:C1849700 E (Exact mapping: the two concepts are equivalent) MSSD Syndactyly type 9 Syndactyly, Malik-Percin type A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association. Orphanet ICD-10:Q70.0 ICD-10:Q70.2 ICD-11:LB79.Y OMIM:609432 UMLS:C1836206 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157801 Mesoaxial synostotic syndactyly with phalangeal reduction ORPHA:157801 ICD-10:Q70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609432 E (Exact mapping: the two concepts are equivalent) UMLS:C1836206 E (Exact mapping: the two concepts are equivalent) Congenital pseudoarthrosis of the limbs Isolated congenital pseudarthrosis of the limbs A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated. Orphanet ICD-10:Q74.8 UMLS:C5190522 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157808 Isolated pseudoarthrosis of the limbs ORPHA:157808 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190522 E (Exact mapping: the two concepts are equivalent) CISS Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. Orphanet ICD-10:G90.8 ICD-11:8C21.Y OMIM:272430 OMIM:610313 OMIM:617055 Autosomal recessive Adult Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157820 Cold-induced sweating syndrome ORPHA:157820 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:272430 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610313 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617055 BTNT (ORPHAcode is broader than the targeted code used to represent it) A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala. Orphanet ICD-10:G04.8 MeSH:D020232 MedDRA:10066431 UMLS:C0270707 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157823 Klüver-Bucy syndrome ORPHA:157823 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D020232 E (Exact mapping: the two concepts are equivalent) MedDRA:10066431 E (Exact mapping: the two concepts are equivalent) UMLS:C0270707 E (Exact mapping: the two concepts are equivalent) Congenital gingival cell tumor Congenital granular cell tumor Neumann tumor A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported. Orphanet ICD-10:K06.8 ICD-11:KC23 UMLS:C0376319 Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157826 Congenital epulis ORPHA:157826 ICD-10:K06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KC23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0376319 E (Exact mapping: the two concepts are equivalent) A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q30.8 ICD-11:LA70.Y MeSH:C565144 OMIM:123050 UMLS:C1852501 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157832 Craniorhiny ORPHA:157832 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565144 E (Exact mapping: the two concepts are equivalent) OMIM:123050 E (Exact mapping: the two concepts are equivalent) UMLS:C1852501 E (Exact mapping: the two concepts are equivalent) A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy. Orphanet ICD-10:G44.0 ICD-11:8A82 MeSH:D051302 MedDRA:10019461 UMLS:C1399352 Not applicable Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157835 Paroxysmal hemicrania ORPHA:157835 ICD-10:G44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D051302 E (Exact mapping: the two concepts are equivalent) MedDRA:10019461 E (Exact mapping: the two concepts are equivalent) UMLS:C1399352 E (Exact mapping: the two concepts are equivalent) ICD-11:8A82 MeSH:D051303 UMLS:C1565172 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157843 Trigeminal autonomic cephalalgia Clinical group ORPHA:157843 ICD-11:8A82 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D051303 E (Exact mapping: the two concepts are equivalent) UMLS:C1565172 E (Exact mapping: the two concepts are equivalent) Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. Orphanet ICD-10:G23.0 ICD-11:8A01.1Y MeSH:C548080 OMIM:606159 UMLS:C1853578 Autosomal dominant Adult Worldwide AND has_cases/families_value : 90.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157846 Neuroferritinopathy ORPHA:157846 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548080 E (Exact mapping: the two concepts are equivalent) OMIM:606159 E (Exact mapping: the two concepts are equivalent) UMLS:C1853578 E (Exact mapping: the two concepts are equivalent) Hallervorden-Spatz syndrome NBIA1 Neurodegeneration with brain iron accumulation type 1 PKAN Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. Orphanet ICD-10:G23.0 ICD-11:5C64.10 MeSH:D006211 OMIM:234200 UMLS:C0018523 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration ORPHA:157850 ICD-10:G23.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006211 E (Exact mapping: the two concepts are equivalent) OMIM:234200 E (Exact mapping: the two concepts are equivalent) UMLS:C0018523 E (Exact mapping: the two concepts are equivalent) Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic pantothenate kinase-associated neurodegeneration UMLS:C1846582 HARP syndrome ORPHA:157855 UMLS:C1846582 E (Exact mapping: the two concepts are equivalent) Early-onset prion disease with prominent psychiatric features HDL1 A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. Orphanet ICD-10:G10 ICD-11:8A01.11 MeSH:C566398 OMIM:603218 UMLS:C1864112 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157941 Huntington disease-like 1 ORPHA:157941 ICD-10:G10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A01.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566398 E (Exact mapping: the two concepts are equivalent) OMIM:603218 E (Exact mapping: the two concepts are equivalent) UMLS:C1864112 E (Exact mapping: the two concepts are equivalent) HDL3 Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. Orphanet ICD-10:G10 ICD-11:8A01.11 MeSH:C565747 OMIM:604802 UMLS:C1858114 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157946 Huntington disease-like 3 ORPHA:157946 ICD-10:G10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A01.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565747 E (Exact mapping: the two concepts are equivalent) OMIM:604802 E (Exact mapping: the two concepts are equivalent) UMLS:C1858114 E (Exact mapping: the two concepts are equivalent) CID due to RAG 1/2 deficiency Combined immunodeficiency due to RAG 1/2 deficiency A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Orphanet ICD-10:D81.1 OMIM:233650 UMLS:C5191061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157949 Combined immunodeficiency with granulomatosis ORPHA:157949 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:233650 E (Exact mapping: the two concepts are equivalent) UMLS:C5191061 E (Exact mapping: the two concepts are equivalent) Alopecia-progressive neurological defect-endocrinopathy syndrome A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis. Orphanet ICD-10:E23.0 MeSH:C567425 OMIM:612079 UMLS:C2677535 Autosomal recessive Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157954 ANE syndrome ORPHA:157954 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567425 E (Exact mapping: the two concepts are equivalent) OMIM:612079 E (Exact mapping: the two concepts are equivalent) UMLS:C2677535 E (Exact mapping: the two concepts are equivalent) Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia). Orphanet ICD-10:Q87.8 OMIM:612109 UMLS:C4706592 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157962 Oculoauricular syndrome, Schorderet type ORPHA:157962 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612109 E (Exact mapping: the two concepts are equivalent) UMLS:C4706592 E (Exact mapping: the two concepts are equivalent) SCD-EDS SLC39A13-related spEDS SLC39A13-related spondylodysplastic EDS Spondylocheirodysplastic Ehlers-Danlos syndrome spEDS-SLC39A13 A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the <i>SLC39A13</i> gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:C567340 OMIM:612350 UMLS:C2676510 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype ORPHA:157965 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567340 E (Exact mapping: the two concepts are equivalent) OMIM:612350 E (Exact mapping: the two concepts are equivalent) UMLS:C2676510 E (Exact mapping: the two concepts are equivalent) L-CMD LMNA-related congenital muscular dystrophy A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported. Orphanet ICD-10:G71.2 MeSH:C567708 OMIM:613205 UMLS:C2750785 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157973 Congenital muscular dystrophy due to LMNA mutation ORPHA:157973 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567708 E (Exact mapping: the two concepts are equivalent) OMIM:613205 E (Exact mapping: the two concepts are equivalent) UMLS:C2750785 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Bladder cancer ORPHA:157980 MeSH:D015616 UMLS:C0019624 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157987 Non-Langerhans cell histiocytosis Clinical group ORPHA:157987 MeSH:D015616 E (Exact mapping: the two concepts are equivalent) UMLS:C0019624 E (Exact mapping: the two concepts are equivalent) Generalized eruptive histiocytoma A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found. Orphanet ICD-10:D76.3 ICD-11:EE81 UMLS:C0347404 Not applicable Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157991 Generalized eruptive histiocytosis ORPHA:157991 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0347404 E (Exact mapping: the two concepts are equivalent) A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children. Orphanet ICD-10:D76.3 ICD-11:EE81 UMLS:C0347403 Not applicable Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157997 Benign cephalic histiocytosis ORPHA:157997 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0347403 E (Exact mapping: the two concepts are equivalent) CDSP CUD Carnitine transporter defect Carnitine uptake deficiency Deficiency of plasma-membrane carnitine transporter SPCD A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. Orphanet ICD-10:E71.3 ICD-11:5C52.00 MeSH:C536778 OMIM:212140 UMLS:C0342788 Autosomal recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.83 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.0069 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Faroe Islands AND has_annual_incidence_average_value : 138.9 AND has_annual_incidence_range : >1 / 1000 Faroe Islands AND has_point_prevalence_average_value : 77.0 AND has_point_prevalence_range : 6-9 / 10 000 Japan AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158 Systemic primary carnitine deficiency ORPHA:158 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536778 E (Exact mapping: the two concepts are equivalent) OMIM:212140 E (Exact mapping: the two concepts are equivalent) UMLS:C0342788 E (Exact mapping: the two concepts are equivalent) Distal monosomy 10p Monosomy 10pter Telomeric deletion 10p Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Orphanet ICD-10:Q93.5 ICD-11:LD44.A1 UMLS:C4304502 Not applicable Unknown Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1580 Distal deletion 10p syndrome Clinical group ORPHA:1580 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.A1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304502 E (Exact mapping: the two concepts are equivalent) JXG Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity. Orphanet ICD-10:D76.3 ICD-11:2B31.0 MeSH:D014972 UMLS:C0043324 Not applicable Adolescent Childhood Infancy Neonatal Germany AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.0225 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158000 Juvenile xanthogranuloma ORPHA:158000 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B31.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014972 E (Exact mapping: the two concepts are equivalent) UMLS:C0043324 E (Exact mapping: the two concepts are equivalent) Montgomery syndrome A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision. Orphanet ICD-10:D76.3 ICD-11:EE81 MedDRA:10052575 UMLS:C0043322 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158003 Xanthoma disseminatum ORPHA:158003 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10052575 E (Exact mapping: the two concepts are equivalent) UMLS:C0043322 E (Exact mapping: the two concepts are equivalent) Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease. Orphanet ICD-10:D76.3 ICD-11:EE81 UMLS:C4707373 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158008 Papular xanthoma ORPHA:158008 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707373 E (Exact mapping: the two concepts are equivalent) Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported. Orphanet ICD-10:D76.3 ICD-11:EE8Y MeSH:D058252 UMLS:C1275339 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158011 Necrobiotic xanthogranuloma ORPHA:158011 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058252 E (Exact mapping: the two concepts are equivalent) UMLS:C1275339 E (Exact mapping: the two concepts are equivalent) Destombes-Rosaï-Dorfman disease Rosaï-Dorfman-Destombes disease SHML Sinus histiocytosis with massive lymphadenopathy A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs. Orphanet ICD-10:D76.3 ICD-11:EK92 MeSH:D015618 MedDRA:10063397 UMLS:C0019625 Adolescent Adult Worldwide AND has_cases/families_value : 1000.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158014 Rosaï-Dorfman disease ORPHA:158014 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EK92 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015618 E (Exact mapping: the two concepts are equivalent) MedDRA:10063397 E (Exact mapping: the two concepts are equivalent) UMLS:C0019625 E (Exact mapping: the two concepts are equivalent) Indeterminate dendritic cell neoplasm Indeterminate dendritic cell tumor A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression). Orphanet ICD-10:D76.3 ICD-11:2B31.6 UMLS:C2825741 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158019 Indeterminate cell histiocytosis ORPHA:158019 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B31.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2825741 E (Exact mapping: the two concepts are equivalent) Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. Orphanet ICD-10:D76.3 ICD-11:EE81 UMLS:C4707331 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158022 Progressive nodular histiocytosis ORPHA:158022 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707331 E (Exact mapping: the two concepts are equivalent) Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis. Orphanet ICD-10:D76.3 ICD-11:EE8Y OMIM:142630 UMLS:C4749819 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158025 Hereditary progressive mucinous histiocytosis ORPHA:158025 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:142630 E (Exact mapping: the two concepts are equivalent) UMLS:C4749819 E (Exact mapping: the two concepts are equivalent) ICD-10:D76.3 ICD-11:EK92 MeSH:D012618 OMIM:269600 UMLS:C0036489 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158029 Sea-blue histiocytosis ORPHA:158029 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EK92 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D012618 E (Exact mapping: the two concepts are equivalent) OMIM:269600 E (Exact mapping: the two concepts are equivalent) UMLS:C0036489 E (Exact mapping: the two concepts are equivalent) HLH Hemophagocytic lymphohistiocytosis Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes). Orphanet ICD-11:4A01.23 MedDRA:10058125 UMLS:C0024291 Adolescent Childhood Infancy United Kingdom AND has_annual_incidence_average_value : 0.198 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158032 Hemophagocytic syndrome Category ORPHA:158032 ICD-11:4A01.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10058125 E (Exact mapping: the two concepts are equivalent) UMLS:C0024291 E (Exact mapping: the two concepts are equivalent) Genetic HLH Genetic hemophagocytic lymphohistiocytosis Primary HLH ICD-11:4A01.23 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158038 Primary hemophagocytic lymphohistiocytosis Clinical group ORPHA:158038 ICD-11:4A01.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Acquired hemophagocytic lymphohistiocytosis Reactive hemophagocytic syndrome ICD-11:3B62.Y UMLS:C0019068 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158041 Secondary hemophagocytic lymphohistiocytosis Category ORPHA:158041 ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0019068 E (Exact mapping: the two concepts are equivalent) IAHS VAHS Virus-associated hemophagocytic syndrome ICD-10:D76.2 ICD-11:3B62.5 UMLS:C5207031 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158048 Hemophagocytic syndrome associated with an infection ORPHA:158048 ICD-10:D76.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3B62.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5207031 E (Exact mapping: the two concepts are equivalent) A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings. Orphanet ICD-10:D76.1 ICD-11:3B62.Y UMLS:C5190710 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease ORPHA:158057 ICD-10:D76.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190710 E (Exact mapping: the two concepts are equivalent) A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements. Orphanet ICD-10:D76.1 MeSH:D055501 MedDRA:10053867 UMLS:C1096155 Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158061 Macrophage activation syndrome ORPHA:158061 ICD-10:D76.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D055501 E (Exact mapping: the two concepts are equivalent) MedDRA:10053867 E (Exact mapping: the two concepts are equivalent) UMLS:C1096155 E (Exact mapping: the two concepts are equivalent) 1q25.1 Aspartate tRNA ligase 2, mitochondrial FLJ10514 aspartate tRNA ligase 2, mitochondrial mtAspRS ClinVar:DARS2 Ensembl:ENSG00000117593 Genatlas:DARS2 HGNC:25538 OMIM:610956 Reactome:Q6PI48 SwissProt:Q6PI48 DARS2 aspartyl-tRNA synthetase 2, mitochondrial 8q22.1 PDH PDP PPM2A protein phosphatase, Mg2+/Mn2+ dependent 2A ClinVar:PDP1 Ensembl:ENSG00000164951 Genatlas:PDP1 HGNC:9279 OMIM:605993 Reactome:Q9P0J1 SwissProt:Q9P0J1 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 11q23.3 MGC129621 TRE TREA alpha,alpha-trehalase alpha,alpha-trehalose glucohydrolase ClinVar:TREH Ensembl:ENSG00000118094 Genatlas:TREH HGNC:12266 OMIM:275360 Reactome:O43280 SwissProt:O43280 TREH trehalase 19p13.2 NTE SPG39 SWS iPLA2delta neuropathy target esterase sws ClinVar:PNPLA6 Ensembl:ENSG00000032444 Genatlas:PNPLA6 HGNC:16268 OMIM:603197 Reactome:Q8IY17 SwissProt:Q8IY17 PNPLA6 patatin like phospholipase domain containing 6 Non-distal monosomy 10q Non-telomeric monosomy 10q Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. Orphanet ICD-10:Q93.5 ICD-11:LD44.A0 UMLS:C4749375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1581 Non-distal deletion 10q syndrome ORPHA:1581 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.A0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749375 E (Exact mapping: the two concepts are equivalent) UMLS:C5680680 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158124 Genetic dementia Category ORPHA:158124 UMLS:C5680680 E (Exact mapping: the two concepts are equivalent) Huntington disease phenocopy syndrome MeSH:C580174 UMLS:C3711380 Brazil AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158266 Huntington disease-like syndrome Clinical group ORPHA:158266 MeSH:C580174 E (Exact mapping: the two concepts are equivalent) UMLS:C3711380 E (Exact mapping: the two concepts are equivalent) UMLS:C5680681 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158300 Rare genetic hematologic disease Category ORPHA:158300 UMLS:C5680681 E (Exact mapping: the two concepts are equivalent) 3q27.3 BCL5 BCL6A LAZ3 ZBTB27 ClinVar:BCL6 Ensembl:ENSG00000113916 Genatlas:BCL6 HGNC:1001 IUPHAR:2957 OMIM:109565 Reactome:P41182 SwissProt:P41182 BCL6 BCL6 transcription repressor 6p21.33 H2-Bf properdin B properdin factor B ClinVar:CFB Ensembl:ENSG00000243649 Genatlas:CFB HGNC:1037 IUPHAR:2339 OMIM:138470 Reactome:P00751 SwissProt:P00751 CFB complement factor B 15q25.2 MGC72007 RPS17L1 RPS17L2 S17 eS17 ClinVar:RPS17 Ensembl:ENSG00000182774 Genatlas:RPS17 HGNC:10397 OMIM:180472 Reactome:P08708 SwissProt:P08708 RPS17 ribosomal protein S17 13q21.33 NCRNA00003 non-protein coding RNA 3 ClinVar:ATXN8OS Ensembl:ENSG00000230223 Genatlas:ATXN8OS HGNC:10561 OMIM:603680 SwissProt:P0DMR3 ATXN8OS ATXN8 opposite strand lncRNA Xp11.22 GDF9B ClinVar:BMP15 Ensembl:ENSG00000130385 Genatlas:BMP15 HGNC:1068 OMIM:300247 Reactome:O95972 SwissProt:O95972 BMP15 bone morphogenetic protein 15 1q22 CORD10 FLJ12287 SemB ClinVar:SEMA4A Ensembl:ENSG00000196189 Genatlas:SEMA4A HGNC:10729 OMIM:607292 Reactome:Q9H3S1 SwissProt:Q9H3S1 SEMA4A semaphorin 4A 5p15.31 semF ClinVar:SEMA5A Ensembl:ENSG00000112902 Genatlas:SEMA5A HGNC:10736 OMIM:609297 Reactome:Q13591 SwissProt:Q13591 SEMA5A semaphorin 5A 6q16.3 bHLHe14 ClinVar:SIM1 Ensembl:ENSG00000112246 Genatlas:SIM1 HGNC:10882 OMIM:603128 SwissProt:P81133 SIM1 SIM bHLH transcription factor 1 2q35 ClinVar:SLC11A1 Ensembl:ENSG00000018280 Genatlas:SLC11A1 HGNC:10907 IUPHAR:966 OMIM:600266 Reactome:P49279 SwissProt:P49279 SLC11A1 solute carrier family 11 member 1 12q23.1 PTP Phosphate carrier protein, mitochondrial PiC phosphate transport protein ClinVar:SLC25A3 Ensembl:ENSG00000075415 Genatlas:SLC25A3 HGNC:10989 IUPHAR:1061 OMIM:600370 Reactome:Q00325 SwissProt:Q00325 SLC25A3 solute carrier family 25 member 3 1p34.2 DYT18 DYT9 GLUT-1 dystonia gene 18 dystonia gene 9 ClinVar:SLC2A1 Ensembl:ENSG00000117394 Genatlas:SLC2A1 HGNC:11005 IUPHAR:875 OMIM:138140 Reactome:P11166 SwissProt:P11166 SLC2A1 solute carrier family 2 member 1 11p15.1 GLYT2 GlyT-2 Sodium- and chloride-dependent glycine transporter 2 glycine transporter 2 ClinVar:SLC6A5 Ensembl:ENSG00000165970 Genatlas:SLC6A5 HGNC:11051 IUPHAR:936 OMIM:604159 Reactome:Q9Y345 SwissProt:Q9Y345 SLC6A5 solute carrier family 6 member 5 Xq26.3 KIAA0267 NHE-6 NHE6 Sodium/hydrogen exchanger 6 ClinVar:SLC9A6 Ensembl:ENSG00000198689 Genatlas:SLC9A6 HGNC:11079 IUPHAR:953 OMIM:300231 Reactome:Q92581 SwissProt:Q92581 SLC9A6 solute carrier family 9 member A6 Xp11.22 CT5.2a HD21 HOM-MEL-40 MGC119055 MGC15364 MGC3884 cancer/testis antigen family 5, member 2a sarcoma, synovial, X-chromosome-related 2 synovial sarcoma, X breakpoint 2, isoform b synovial sarcoma, X breakpoint 2B ClinVar:SSX2 Ensembl:ENSG00000241476 Genatlas:SSX2 HGNC:11336 OMIM:300192 Reactome:Q16385 SwissProt:Q16385 SSX2 SSX family member 2 2p11.2 ClinVar:SUCLG1 Ensembl:ENSG00000163541 Genatlas:SUCLG1 HGNC:11449 OMIM:611224 Reactome:P53597 SwissProt:P53597 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha 1p36.22 ALS10 TDP-43 ClinVar:TARDBP Ensembl:ENSG00000120948 Genatlas:TARDBP HGNC:11571 OMIM:605078 Reactome:Q13148 SwissProt:Q13148 TARDBP TAR DNA binding protein 12q24.31 HNF1 HNF1a LFB1 ClinVar:HNF1A Ensembl:ENSG00000135100 Genatlas:HNF1A HGNC:11621 OMIM:142410 Reactome:P20823 SwissProt:P20823 HNF1A HNF1 homeobox A 17q12 HNF1beta HNF1ß LFB3 MODY5 VHNF1 hepatocyte nuclear factor 1 beta ClinVar:HNF1B Ensembl:ENSG00000275410 Genatlas:HNF1B HGNC:11630 OMIM:189907 Reactome:P35680 SwissProt:P35680 HNF1B HNF1 homeobox B 18q21.2 E2-2 ITF2 SEF2-1B SL3-3 enhancer factor 2 bHLHb19 class B basic helix-loop-helix protein 19 immunoglobulin transcription factor 2 ClinVar:TCF4 Ensembl:ENSG00000196628 Genatlas:TCF4 HGNC:11634 OMIM:602272 Reactome:P15884 SwissProt:P15884 TCF4 transcription factor 4 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Epidermolysis bullosa simplex OBSOLETE: Suprabasal epidermolysis bullosa simplex ORPHA:158661 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Epidermolysis bullosa simplex OBSOLETE: Basal epidermolysis bullosa simplex ORPHA:158665 McGrath syndrome Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering. Orphanet ICD-10:Q81.0 ICD-11:EC30 MeSH:C536183 OMIM:604536 UMLS:C1858302 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158668 Ectodermal dysplasia-skin fragility syndrome ORPHA:158668 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536183 E (Exact mapping: the two concepts are equivalent) OMIM:604536 E (Exact mapping: the two concepts are equivalent) UMLS:C1858302 E (Exact mapping: the two concepts are equivalent) Localized DEB, acral form A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Orphanet ICD-10:Q81.2 ICD-11:EC32 UMLS:C4518087 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158673 Localized dystrophic epidermolysis bullosa, acral form Clinical subtype ORPHA:158673 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518087 E (Exact mapping: the two concepts are equivalent) Localized DEB, nails only A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. Orphanet ICD-10:Q81.2 ICD-11:EC32 UMLS:C4302547 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158676 Localized dystrophic epidermolysis bullosa, nails only Clinical subtype ORPHA:158676 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4302547 E (Exact mapping: the two concepts are equivalent) EBS with circinate migratory erythema EBS-migr A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Orphanet ICD-10:Q81.0 ICD-11:EC30 MeSH:C563730 OMIM:609352 UMLS:C1836284 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158681 Epidermolysis bullosa simplex with circinate migratory erythema ORPHA:158681 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563730 E (Exact mapping: the two concepts are equivalent) OMIM:609352 E (Exact mapping: the two concepts are equivalent) UMLS:C1836284 E (Exact mapping: the two concepts are equivalent) EBS with pyloric atresia EBS-PA A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. Orphanet ICD-10:Q81.0 ICD-11:EC30 MeSH:C567408 OMIM:612138 UMLS:C2677349 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158684 Epidermolysis bullosa simplex with pyloric atresia ORPHA:158684 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567408 E (Exact mapping: the two concepts are equivalent) OMIM:612138 E (Exact mapping: the two concepts are equivalent) UMLS:C2677349 E (Exact mapping: the two concepts are equivalent) Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters. Orphanet ICD-10:Q81.0 ICD-11:EC30 MeSH:C535493 OMIM:609638 UMLS:C1864826 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158687 Lethal acantholytic erosive disorder ORPHA:158687 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535493 E (Exact mapping: the two concepts are equivalent) OMIM:609638 E (Exact mapping: the two concepts are equivalent) UMLS:C1864826 E (Exact mapping: the two concepts are equivalent) Del(13)(q14) Deletion 13q14 Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. Orphanet ICD-10:Q93.5 ICD-11:LD44.D OMIM:613884 UMLS:C4749304 Not applicable Infancy Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1587 Monosomy 13q14 syndrome ORPHA:1587 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613884 E (Exact mapping: the two concepts are equivalent) UMLS:C4749304 E (Exact mapping: the two concepts are equivalent) ICD-10:Q82.2 ICD-11:2A21.10 UMLS:C5680683 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158766 Typical urticaria pigmentosa Clinical subtype ORPHA:158766 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680683 E (Exact mapping: the two concepts are equivalent) ICD-10:Q82.2 ICD-11:2A21.10 UMLS:C5680682 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158769 Plaque-form urticaria pigmentosa Clinical subtype ORPHA:158769 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680682 E (Exact mapping: the two concepts are equivalent) ICD-10:Q82.2 ICD-11:2A21.10 UMLS:C5680684 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158772 Nodular urticaria pigmentosa Clinical subtype ORPHA:158772 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680684 E (Exact mapping: the two concepts are equivalent) A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions. Orphanet ICD-10:C96.2 ICD-11:2A21.0Y UMLS:C3897042 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158775 Smoldering systemic mastocytosis ORPHA:158775 ICD-10:C96.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3897042 E (Exact mapping: the two concepts are equivalent) A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The <i>KIT</i> D816V mutation is present in the majority of cases. Orphanet ICD-10:D47.0 ICD-11:2A21.0Y UMLS:C4509020 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=158778 Isolated bone marrow mastocytosis ORPHA:158778 ICD-10:D47.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4509020 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Aggressive systemic mastocytosis OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia ORPHA:158793 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Mast cell leukemia OBSOLETE: Classic mast cell leukemia ORPHA:158796 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Mast cell leukemia OBSOLETE: Aleukemic mast cell leukemia ORPHA:158799 CACT deficiency Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. Orphanet ICD-10:E71.3 ICD-11:5C52.00 MeSH:C562812 MedDRA:10078729 OMIM:212138 UMLS:C0342791 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=159 Carnitine-acylcarnitine translocase deficiency ORPHA:159 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562812 E (Exact mapping: the two concepts are equivalent) MedDRA:10078729 E (Exact mapping: the two concepts are equivalent) OMIM:212138 E (Exact mapping: the two concepts are equivalent) UMLS:C0342791 E (Exact mapping: the two concepts are equivalent) 13q32 deletion Deletion 13q32 Distal monosomy 13q Monosomy 13q32 Telomeric deletion 13q Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. Orphanet ICD-10:Q93.5 ICD-11:LD44.D OMIM:602553 UMLS:C4706502 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1590 Distal deletion 13q syndrome ORPHA:1590 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:602553 E (Exact mapping: the two concepts are equivalent) UMLS:C4706502 E (Exact mapping: the two concepts are equivalent) 2p13.3 ClinVar:TGFA Ensembl:ENSG00000163235 Genatlas:TGFA HGNC:11765 OMIM:190170 Reactome:P01135 SwissProt:P01135 TGFA transforming growth factor alpha 12q23.1 LAP2 LEM domain containing 4 LEMD4 TP ClinVar:TMPO Ensembl:ENSG00000120802 Genatlas:TMPO HGNC:11875 OMIM:188380 Reactome:P42167 SwissProt:P42166 SwissProt:P42167 TMPO thymopoietin 13q14.11 CD254 ODF OPGL RANKL TRANCE ClinVar:TNFSF11 Ensembl:ENSG00000120659 Genatlas:TNFSF11 HGNC:11926 OMIM:602642 Reactome:O14788 SwissProt:O14788 TNFSF11 TNF superfamily member 11 3p21.1 ClinVar:TNNC1 Ensembl:ENSG00000114854 Genatlas:TNNC1 HGNC:11943 OMIM:191040 Reactome:P63316 SwissProt:P63316 TNNC1 troponin C1, slow skeletal and cardiac type 2q37.1 GYF domain containing 2 GYF2 KIAA0642 ClinVar:GIGYF2 Ensembl:ENSG00000204120 Genatlas:GIGYF2 HGNC:11960 OMIM:612003 SwissProt:Q6Y7W6 GIGYF2 GRB10 interacting GYF protein 2 19p13.2 JTK1 ClinVar:TYK2 Ensembl:ENSG00000105397 Genatlas:TYK2 HGNC:12440 IUPHAR:2269 OMIM:176941 Reactome:P29597 SwissProt:P29597 TYK2 tyrosine kinase 2 Xq24 HHR6A HR6A RAD6A UBC2 ClinVar:UBE2A Ensembl:ENSG00000077721 Genatlas:UBE2A HGNC:12472 OMIM:312180 Reactome:P49459 SwissProt:P49459 UBE2A ubiquitin conjugating enzyme E2 A 22q11.21 ClinVar:UFD1L Ensembl:ENSG00000070010 Genatlas:UFD1L HGNC:12520 OMIM:601754 Reactome:Q92890 SwissProt:Q92890 UFD1 ubiquitin recognition factor in ER associated degradation 1 10q22.2 Metavinculin VINC metavinculin ClinVar:VCL Ensembl:ENSG00000035403 Genatlas:VCL HGNC:12665 OMIM:193065 Reactome:P18206 SwissProt:P18206 VCL vinculin 15q11.2 HBII-85 PET1 ClinVar:SNORD116@ Genatlas:SNORD116@ HGNC:32781 OMIM:605436 SNORD116@ small nucleolar RNA, C/D box 116 cluster 7q11.22 FBRSL2 KIAA0442 ClinVar:AUTS2 Ensembl:ENSG00000158321 Genatlas:AUTS2 HGNC:14262 OMIM:607270 Reactome:Q8WXX7 SwissProt:Q8WXX7 AUTS2 activator of transcription and developmental regulator AUTS2 15q14 MGC70651 NOP10P homolog of yeast Nop10p ClinVar:NOP10 Ensembl:ENSG00000182117 Genatlas:NOP10 HGNC:14378 OMIM:606471 Reactome:Q9NPE3 SwissProt:Q9NPE3 NOP10 NOP10 ribonucleoprotein 14q32.2 GTL2 LINC00023 NCRNA00023 gene trap locus 2 long intergenic non-protein coding RNA 23 non-protein coding RNA 23 onco-lncRNA-83 ClinVar:MEG3 Ensembl:ENSG00000214548 Genatlas:MEG3 HGNC:14575 OMIM:605636 MEG3 maternally expressed 3 14q32.2 HUR1 MART1 Mar1 PEG11 SIRH2 Sushi-Ichi retrotransposon homolog 2 mammalian retrotransposon-derived 1 paternally expressed 11 ClinVar:RTL1 Ensembl:ENSG00000254656 Genatlas:RTL1 HGNC:14665 OMIM:611896 SwissProt:A6NKG5 RTL1 retrotransposon Gag like 1 13q14.2 P2Y5 ClinVar:P2RY5 Ensembl:ENSG00000139679 Genatlas:P2RY5 HGNC:15520 IUPHAR:163 OMIM:609239 Reactome:P43657 SwissProt:P43657 LPAR6 lysophosphatidic acid receptor 6 20p12.3 FLJ20116 KIND1 UNC112A URP1 kinderlin kindlin-1 ClinVar:FERMT1 Ensembl:ENSG00000101311 Genatlas:FERMT1 HGNC:15889 OMIM:607900 SwissProt:Q9BQL6 FERMT1 FERM domain containing kindlin 1 15q15.3 ClinVar:STRC Ensembl:ENSG00000242866 Genatlas:STRC HGNC:16035 OMIM:606440 SwissProt:Q7RTU9 STRC stereocilin 21q22.3 KEN KIAA0402 PCN PCNTB SCKL4 Seckel syndrome 4 kendrin ClinVar:PCNT Ensembl:ENSG00000160299 Genatlas:PCNT HGNC:16068 OMIM:605925 Reactome:O95613 SwissProt:O95613 PCNT pericentrin 1q43 ClinVar:ACTN2 Ensembl:ENSG00000077522 Genatlas:ACTN2 HGNC:164 OMIM:102573 Reactome:P35609 SwissProt:P35609 ACTN2 actinin alpha 2 11q23.3 CD3-DELTA CD3DELTA T-cell surface glycoprotein CD3 delta chain ClinVar:CD3D Ensembl:ENSG00000167286 Genatlas:CD3D HGNC:1673 OMIM:186790 Reactome:P04234 SwissProt:P04234 CD3D CD3 delta subunit of T-cell receptor complex 11q23.3 CD3-epsilon CD3epsilon T-cell surface glycoprotein CD3 epsilon chain ClinVar:CD3E Ensembl:ENSG00000198851 Genatlas:CD3E HGNC:1674 IUPHAR:2742 OMIM:186830 Reactome:P07766 SwissProt:P07766 CD3E CD3 epsilon subunit of T-cell receptor complex 6q21 ALS11 CMT4J SAC3 dJ249I4.1 hSac3 ClinVar:FIG4 Ensembl:ENSG00000112367 Genatlas:FIG4 HGNC:16873 OMIM:609390 Reactome:Q92562 SwissProt:Q92562 FIG4 FIG4 phosphoinositide 5-phosphatase 22q13.1 HRIHFB2122 KIAA1662 TAP68 Tara ClinVar:TRIOBP Ensembl:ENSG00000100106 Genatlas:TRIOBP HGNC:17009 OMIM:609761 SwissProt:Q9H2D6 TRIOBP TRIO and F-actin binding protein 6q25.2 8B ARCA1 CPG2 Enaptin KIAA0796 MYNE1 Nesp1 Nesprin-1 SCAR8 SYNE-1B dJ45H2.2 enaptin myocyte nuclear envelope protein 1 nuclear envelope spectrin repeat-1 ClinVar:SYNE1 Ensembl:ENSG00000131018 Genatlas:SYNE1 HGNC:17089 OMIM:608441 Reactome:Q8NF91 SwissProt:Q8NF91 SYNE1 spectrin repeat containing nuclear envelope protein 1 10q23.33 KIAA1516 NPHS3 Nephrosis type 3 PLCE nephrosis type 3 phosphoinositide phospholipase C ClinVar:PLCE1 Ensembl:ENSG00000138193 Genatlas:PLCE1 HGNC:17175 IUPHAR:1412 OMIM:608414 Reactome:Q9P212 SwissProt:Q9P212 PLCE1 phospholipase C epsilon 1 Xq21.1 FLJ38568 MRX93 ClinVar:BRWD3 Ensembl:ENSG00000165288 Genatlas:BRWD3 HGNC:17342 IUPHAR:2775 OMIM:300553 SwissProt:Q6RI45 BRWD3 bromodomain and WD repeat domain containing 3 11q13.2 B-cell stimulating factor 3 BSF-3 BSF3 CISS2 CLC NNT-1 NNT1 NR6 cold-induced sweating syndrome 2 novel neurotrophin-1 ClinVar:CLCF1 Ensembl:ENSG00000175505 Genatlas:CLCF1 HGNC:17412 OMIM:607672 Reactome:Q9UBD9 SwissProt:Q9UBD9 CLCF1 cardiotrophin like cytokine factor 1 Xp11.23 MG61 PORC PPN por ClinVar:PORCN Ensembl:ENSG00000102312 Genatlas:PORCN HGNC:17652 IUPHAR:3145 OMIM:300651 Reactome:Q9H237 SwissProt:Q9H237 PORCN porcupine O-acyltransferase 11q22.3 ClinVar:RDX Ensembl:ENSG00000137710 Genatlas:RDX HGNC:9944 OMIM:179410 Reactome:P35241 SwissProt:P35241 RDX radixin 15q21.2 CHAK1 LTRPC7 TRP-PLIK ClinVar:TRPM7 Ensembl:ENSG00000092439 Genatlas:TRPM7 HGNC:17994 IUPHAR:499 OMIM:605692 Reactome:Q96QT4 SwissProt:Q96QT4 TRPM7 transient receptor potential cation channel subfamily M member 7 17q25.3 EVIN1 LAK-4P ClinVar:TMC6 Ensembl:ENSG00000141524 Genatlas:TMC6 HGNC:18021 OMIM:605828 Reactome:Q7Z403 SwissProt:Q7Z403 TMC6 transmembrane channel like 6 3q28 Ymer ClinVar:CCDC50 Ensembl:ENSG00000152492 Genatlas:CCDC50 HGNC:18111 OMIM:611051 Reactome:Q8IVM0 SwissProt:Q8IVM0 CCDC50 coiled-coil domain containing 50 Xq26.1 CGI-89 DHHC9 ZNF379 ZNF380 Zinc finger protein 379 Zinc finger protein 380 ClinVar:ZDHHC9 Ensembl:ENSG00000188706 Genatlas:ZDHHC9 HGNC:18475 OMIM:300646 SwissProt:Q9Y397 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 12q24.31 ATP6N1D ATP6a2 J6B7 RTF Stv1 TJ6 TJ6M TJ6s V-ATPase subunit a2 V-type proton ATPase 116 kDa subunit a2 Vph1 a2 a2V regeneration and tolerance factor ClinVar:ATP6V0A2 Ensembl:ENSG00000185344 Genatlas:ATP6V0A2 HGNC:18481 IUPHAR:824 OMIM:611716 Reactome:Q9Y487 SwissProt:Q9Y487 ATP6V0A2 ATPase H+ transporting V0 subunit a2 3q27.2 LPDLR PLA1B mPA-PLA1 mPA-PLA1alpha phospholipase A(1) ClinVar:LIPH Ensembl:ENSG00000163898 Genatlas:LIPH HGNC:18483 OMIM:607365 Reactome:Q8WWY8 SwissProt:Q8WWY8 LIPH lipase H 15q15.3 ClinVar:CATSPER2 Ensembl:ENSG00000166762 Genatlas:CATSPER2 HGNC:18810 IUPHAR:389 OMIM:607249 Reactome:Q96P56 SwissProt:Q96P56 CATSPER2 cation channel sperm associated 2 15q15.2 KIAA0847 ClinVar:TTBK2 Ensembl:ENSG00000128881 Genatlas:TTBK2 HGNC:19141 IUPHAR:2263 OMIM:611695 Reactome:Q6IQ55 SwissProt:Q6IQ55 TTBK2 tau tubulin kinase 2 8p21.2 acetylcholine receptor, nicotinic, alpha 2 (neuronal) ClinVar:CHRNA2 Ensembl:ENSG00000120903 Genatlas:CHRNA2 HGNC:1956 IUPHAR:463 OMIM:118502 Reactome:Q15822 SwissProt:Q15822 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit 9p24.2 Kv8.2 ClinVar:KCNV2 Ensembl:ENSG00000168263 Genatlas:KCNV2 HGNC:19698 IUPHAR:566 OMIM:607604 Reactome:Q8TDN2 SwissProt:Q8TDN2 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 14q24.3 RET1 ClinVar:VSX2 Ensembl:ENSG00000119614 Genatlas:VSX2 HGNC:1975 OMIM:142993 SwissProt:P58304 VSX2 visual system homeobox 2 15q14 FLJ33903 PPP1R147 SPRED-1 protein phosphatase 1, regulatory subunit 147 ClinVar:SPRED1 Ensembl:ENSG00000166068 Genatlas:SPRED1 HGNC:20249 OMIM:609291 Reactome:Q7Z699 SwissProt:Q7Z699 SPRED1 sprouty related EVH1 domain containing 1 1p36.13 CLCK1 Chloride channel protein ClC-Ka ClC-K1 hClC-Ka ClinVar:CLCNKA Ensembl:ENSG00000186510 Genatlas:CLCNKA HGNC:2026 IUPHAR:700 OMIM:602024 Reactome:P51800 SwissProt:P51800 CLCNKA chloride voltage-gated channel Ka Xq24 HUPF3B MRX82 RENT3B UPF3X ClinVar:UPF3B Ensembl:ENSG00000125351 Genatlas:UPF3B HGNC:20439 OMIM:300298 Reactome:Q9BZI7 SwissProt:Q9BZI7 UPF3B UPF3B regulator of nonsense mediated mRNA decay 17q25.3 EVIN2 ClinVar:TMC8 Ensembl:ENSG00000167895 Genatlas:TMC8 HGNC:20474 OMIM:605829 SwissProt:Q8IU68 TMC8 transmembrane channel like 8 14q24.1 FYVE-CENT KIAA0321 spastizin ClinVar:ZFYVE26 Ensembl:ENSG00000072121 Genatlas:ZFYVE26 HGNC:20761 OMIM:612012 SwissProt:Q68DK2 ZFYVE26 zinc finger FYVE-type containing 26 12q13.12 B-ALPHA-1 FLJ25113 TUBA3 Tubulin, alpha, brain-specific tubulin, alpha, brain-specific ClinVar:TUBA1A Ensembl:ENSG00000167552 Genatlas:TUBA1A HGNC:20766 IUPHAR:2638 OMIM:602529 Reactome:Q71U36 SwissProt:Q71U36 TUBA1A tubulin alpha 1a 11p11.2 FLJ25785 LIV-1 subfamily of ZIP zinc transporters human member 9 LZT-Hs9 ZIP-13 ZIP13 ZRT/IRT-like protein 13 Zinc transporter ZIP13 zinc transporter 13 ClinVar:SLC39A13 Ensembl:ENSG00000165915 Genatlas:SLC39A13 HGNC:20859 IUPHAR:1192 OMIM:608735 SwissProt:Q96H72 SLC39A13 solute carrier family 39 member 13 6p21.31 MGC33835 Tmhs dJ510O8.8 tetraspan membrane protein of hair cell stereocilia ClinVar:LHFPL5 Ensembl:ENSG00000197753 Genatlas:LHFPL5 HGNC:21253 OMIM:609427 Reactome:Q8TAF8 SwissProt:Q8TAF8 LHFPL5 LHFPL tetraspan subfamily member 5 18q12.1 CDHF13 LAH ClinVar:DSG4 Ensembl:ENSG00000175065 Genatlas:DSG4 HGNC:21307 OMIM:607892 Reactome:Q86SJ6 SwissProt:Q86SJ6 DSG4 desmoglein 4 6q15 DALRD2 MGC14993 MGC23778 PRO1992 arginine tRNA ligase 2, mitochondrial (putative) dJ382I10.6 ClinVar:RARS2 Ensembl:ENSG00000146282 Genatlas:RARS2 HGNC:21406 OMIM:611524 Reactome:Q5T160 SwissProt:Q5T160 RARS2 arginyl-tRNA synthetase 2, mitochondrial 16q21 CNGB1B GAR1 GARP RCNC2 RCNCb RP45 cyclic nucleotide-gated cation channel beta-1 glutamic acid-rich protein ClinVar:CNGB1 Ensembl:ENSG00000070729 Genatlas:CNGB1 HGNC:2151 IUPHAR:398 OMIM:600724 Reactome:Q14028 SwissProt:Q14028 CNGB1 cyclic nucleotide gated channel subunit beta 1 9p21.1 LUN TP53BPL ClinVar:TOPORS Ensembl:ENSG00000197579 Genatlas:TOPORS HGNC:21653 OMIM:609507 SwissProt:Q9NS56 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase 7q32.1 FLJ10377 NOP4 ClinVar:RBM28 Ensembl:ENSG00000106344 Genatlas:RBM28 HGNC:21863 OMIM:612074 Reactome:Q9NW13 SwissProt:Q9NW13 RBM28 RNA binding motif protein 28 12q24.21 KIAA1025 TRAP240L ClinVar:MED13L Ensembl:ENSG00000123066 Genatlas:MED13L HGNC:22962 OMIM:608771 Reactome:Q71F56 SwissProt:Q71F56 MED13L mediator complex subunit 13L 16q24.2 KIAA1858 Zfp469 ClinVar:ZNF469 Ensembl:ENSG00000225614 Genatlas:ZNF469 HGNC:23216 OMIM:612078 SwissProt:Q96JG9 ZNF469 zinc finger protein 469 16p11.2 ClinVar:VKORC1 Ensembl:ENSG00000167397 Genatlas:VKORC1 HGNC:23663 IUPHAR:2645 OMIM:608547 Reactome:Q9BQB6 SwissProt:Q9BQB6 VKORC1 vitamin K epoxide reductase complex subunit 1 1p34.3 G-CSF-R GCSFR granulocyte colony-stimulating factor receptor ClinVar:CSF3R Ensembl:ENSG00000119535 Genatlas:CSF3R HGNC:2439 IUPHAR:1719 OMIM:138971 Reactome:Q99062 SwissProt:Q99062 CSF3R colony stimulating factor 3 receptor 5p15.2 GT24 NPRAP neural plakophilin-related arm-repeat protein neurojungin ClinVar:CTNND2 Ensembl:ENSG00000169862 Genatlas:CTNND2 HGNC:2516 OMIM:604275 SwissProt:Q9UQB3 CTNND2 catenin delta 2 11p15.5 CLN10 ceroid-lipofuscinosis, neuronal 10 ClinVar:CTSD Ensembl:ENSG00000117984 Genatlas:CTSD HGNC:2529 IUPHAR:2345 OMIM:116840 Reactome:P07339 SwissProt:P07339 CTSD cathepsin D Xq28 CG1 F18 ClinVar:MAMLD1 Ensembl:ENSG00000013619 Genatlas:MAMLD1 HGNC:2568 OMIM:300120 Reactome:Q13495 SwissProt:Q13495 MAMLD1 mastermind like domain containing 1 2q35 Cernunnos FLJ12610 XLF XRCC4-like factor ClinVar:NHEJ1 Ensembl:ENSG00000187736 Genatlas:NHEJ1 HGNC:25737 OMIM:611290 Reactome:Q9H9Q4 SwissProt:Q9H9Q4 NHEJ1 non-homologous end joining factor 1 8q22.3 BOM FLJ13782 brother-of-MGR ClinVar:GRHL2 Ensembl:ENSG00000083307 Genatlas:GRHL2 HGNC:2799 OMIM:608576 Reactome:Q6ISB3 SwissProt:Q6ISB3 GRHL2 grainyhead like transcription factor 2 Xq28 CycM cyclin M ClinVar:FAM58A Ensembl:ENSG00000262919 Genatlas:FAM58A HGNC:28434 OMIM:300708 SwissProt:Q8N1B3 CCNQ cyclin Q 3p25.1 DKFZp586G1919 LUMA MGC3222 ClinVar:TMEM43 Ensembl:ENSG00000170876 Genatlas:TMEM43 HGNC:28472 OMIM:612048 Reactome:Q9BTV4 SwissProt:Q9BTV4 TMEM43 transmembrane protein 43 4q28.2 MGC33302 ClinVar:MFSD8 Ensembl:ENSG00000164073 Genatlas:MFSD8 HGNC:28486 OMIM:611124 SwissProt:Q8NHS3 MFSD8 major facilitator superfamily domain containing 8 5q14.1 DHFR1 ClinVar:DHFR Ensembl:ENSG00000228716 Genatlas:DHFR HGNC:2861 IUPHAR:2603 OMIM:126060 Reactome:P00374 SwissProt:P00374 DHFR dihydrofolate reductase 9q31.1 TGD Tangier disease ClinVar:ABCA1 Ensembl:ENSG00000165029 Genatlas:ABCA1 HGNC:29 IUPHAR:756 OMIM:600046 Reactome:O95477 SwissProt:O95477 ABCA1 ATP binding cassette subfamily A member 1 14q32.2 Delta1 FA1 Pref-1 ZOG pG2 ClinVar:DLK1 Ensembl:ENSG00000185559 Genatlas:DLK1 HGNC:2907 OMIM:176290 Reactome:P80370 SwissProt:P80370 DLK1 delta like non-canonical Notch ligand 1 4p15.32 JBTS9 KIAA1345 MKS6 Meckel syndrome, type 6 ClinVar:CC2D2A Ensembl:ENSG00000048342 Genatlas:CC2D2A HGNC:29253 OMIM:612013 Reactome:Q9P2K1 SwissProt:Q9P2K1 CC2D2A coiled-coil and C2 domain containing 2A 1p36.22 TERE1 transitional epithelia response protein ClinVar:UBIAD1 Ensembl:ENSG00000120942 Genatlas:UBIAD1 HGNC:30791 OMIM:611632 Reactome:Q9Y5Z9 SwissProt:Q9Y5Z9 UBIAD1 UbiA prenyltransferase domain containing 1 22q13.33 Gliostatin gliostatin ClinVar:TYMP Ensembl:ENSG00000025708 Genatlas:TYMP HGNC:3148 OMIM:131222 Reactome:P19971 SwissProt:P19971 TYMP thymidine phosphorylase 3q27.2 ClinVar:EHHADH Ensembl:ENSG00000113790 Genatlas:EHHADH HGNC:3247 OMIM:607037 Reactome:Q08426 SwissProt:Q08426 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase 8p21.2 CSX2 NKX4-2 tinman (Drosophila) homolog tinman paralog (Drosophila) ClinVar:NKX2-6 Ensembl:ENSG00000180053 Genatlas:NKX2-6 HGNC:32940 OMIM:611770 SwissProt:A6NCS4 NKX2-6 NK2 homeobox 6 15q15.2 Erythrocyte surface protein band 4.2 MGC116735 MGC116737 PA ClinVar:EPB42 Ensembl:ENSG00000166947 Genatlas:EPB42 HGNC:3381 OMIM:177070 SwissProt:P16452 EPB42 erythrocyte membrane protein band 4.2 1q23.3 CD16 CD16b Fc gamma receptor IIIb FcRIIIb FcgammaRIIIb ClinVar:FCGR3B Ensembl:ENSG00000162747 Genatlas:FCGR3B HGNC:3620 OMIM:610665 Reactome:O75015 SwissProt:O75015 FCGR3B Fc fragment of IgG receptor IIIb 11q13.3 HBGF-3 INT-2 proto-oncogene protein V-INT2 murine mammary tumor virus integration site oncogene homolog murine mammary tumor virus integration site 2, mouse oncogene INT2 ClinVar:FGF3 Ensembl:ENSG00000186895 Genatlas:FGF3 HGNC:3681 OMIM:164950 Reactome:P11487 SwissProt:P11487 FGF3 fibroblast growth factor 3 2q12.2 DRAL SLIM3 ClinVar:FHL2 Ensembl:ENSG00000115641 Genatlas:FHL2 HGNC:3703 OMIM:602633 Reactome:Q14192 SwissProt:Q14192 FHL2 four and a half LIM domains 2 Xq28 ClinVar:FMR3 Genatlas:FMR3 HGNC:3777 FMR3 fragile X mental retardation associated 3 2q35 CIG Cold-insoluble globulin FINC GFND2 LETS MSF Migration-stimulating factor cold-insoluble globulin lnc-ABCA12-8 migration-stimulating factor ClinVar:FN1 Ensembl:ENSG00000115414 Genatlas:FN1 HGNC:3778 OMIM:135600 Reactome:P02751 SwissProt:P02751 FN1 fibronectin 1 15q26 deletion syndrome Distal monosomy 15q Monosomy 15q26 Telomeric 15q deletion syndrome Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. Orphanet ICD-10:Q93.5 ICD-11:LD44.F OMIM:612626 UMLS:C4707662 Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1596 Distal deletion 15q syndrome ORPHA:1596 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.F - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612626 E (Exact mapping: the two concepts are equivalent) UMLS:C4707662 E (Exact mapping: the two concepts are equivalent) 8q24.3 FAST1 forkhead activin signal transducer-1 ClinVar:FOXH1 Ensembl:ENSG00000160973 Genatlas:FOXH1 HGNC:3814 OMIM:603621 Reactome:O75593 SwissProt:O75593 FOXH1 forkhead box H1 11q12.3 FHC FTH H-ferritin PIG15 PLIF apoferritin placenta immunoregulatory factor proliferation-inducing protein 15 ClinVar:FTH1 Ensembl:ENSG00000167996 Genatlas:FTH1 HGNC:3976 OMIM:134770 Reactome:P02794 SwissProt:P02794 FTH1 ferritin heavy chain 1 16p11.2 FUS1 HNRNPP2 TLS heterogeneous nuclear ribonucleoprotein P2 hnRNP-P2 translocated in liposarcoma ClinVar:FUS Ensembl:ENSG00000089280 Genatlas:FUS HGNC:4010 OMIM:137070 Reactome:P35637 SwissProt:P35637 FUS FUS RNA binding protein 15q12 GABA(A) receptor, beta 3 ClinVar:GABRB3 Ensembl:ENSG00000166206 Genatlas:GABRB3 HGNC:4083 IUPHAR:412 OMIM:137192 Reactome:P28472 SwissProt:P28472 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 6p24.2 hGCMb ClinVar:GCM2 Ensembl:ENSG00000124827 Genatlas:GCM2 HGNC:4198 OMIM:603716 Reactome:O75603 SwissProt:O75603 GCM2 glial cells missing transcription factor 2 8p21.2 progonadoliberin-1 ClinVar:GNRH1 Ensembl:ENSG00000147437 Genatlas:GNRH1 HGNC:4419 OMIM:152760 Reactome:P01148 SwissProt:P01148 GNRH1 gonadotropin releasing hormone 1 5p13.2 P504S RACE ClinVar:AMACR Ensembl:ENSG00000242110 Genatlas:AMACR HGNC:451 OMIM:604489 Reactome:Q9UHK6 SwissProt:Q9UHK6 AMACR alpha-methylacyl-CoA racemase Distal monosomy 17q Monosomy 17qter Telomeric deletion 17q A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24. Orphanet ICD-10:Q93.5 ICD-11:LD44.H0 UMLS:C4275171 Not applicable Unknown Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1597 Distal deletion 17q syndrome ORPHA:1597 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.H0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275171 E (Exact mapping: the two concepts are equivalent) 14q11.2 HEL168 Homo sapiens epididymis luminal protein 168 RAA1 RNASE5 ribonuclease A family member 5 ClinVar:ANG Ensembl:ENSG00000214274 Genatlas:ANG HGNC:483 OMIM:105850 Reactome:P03950 SwissProt:P03950 ANG angiogenin 2q32.2 ClinVar:HIBCH Ensembl:ENSG00000198130 Genatlas:HIBCH HGNC:4908 OMIM:610690 Reactome:Q6NVY1 SwissProt:Q6NVY1 HIBCH 3-hydroxyisobutyryl-CoA hydrolase 17q22 MGC33822 ClinVar:HLF Ensembl:ENSG00000108924 Genatlas:HLF HGNC:4977 OMIM:142385 SwissProt:Q16534 HLF HLF transcription factor, PAR bZIP family member 4p16.1 H6 Homeobox protein HMX1 NK5 homeobox 3 NKX5-3 ClinVar:HMX1 Ensembl:ENSG00000215612 Genatlas:HMX1 HGNC:5017 OMIM:142992 SwissProt:Q9NP08 HMX1 H6 family homeobox 1 7p15.2 ClinVar:HOXA2 Ensembl:ENSG00000105996 Genatlas:HOXA2 HGNC:5103 OMIM:604685 Reactome:O43364 SwissProt:O43364 HOXA2 homeobox A2 6q24.2 NCRNA00020 non-protein coding RNA 20 ClinVar:HYMAI Ensembl:ENSG00000283122 Genatlas:HYMAI HGNC:5326 OMIM:606546 HYMAI hydatidiform mole associated and imprinted 11p15.5 FLJ44734 IGF-II preptin somatomedin A ClinVar:IGF2 Ensembl:ENSG00000167244 Genatlas:IGF2 HGNC:5466 OMIM:147470 Reactome:P01344 SwissProt:P01344 IGF2 insulin like growth factor 2 5p13.2 CD127 CDw127 IL-7Ralpha IL7RA IL7Ralpha Interleukin-7 receptor subunit alpha lnc-IL7R sIL-7R soluble interleukin-7 receptor ClinVar:IL7R Ensembl:ENSG00000168685 Genatlas:IL7R HGNC:6024 IUPHAR:1698 OMIM:146661 Reactome:P16871 SwissProt:P16871 IL7R interleukin 7 receptor 19q13.33 Kv3.3 ClinVar:KCNC3 Ensembl:ENSG00000131398 Genatlas:KCNC3 HGNC:6235 IUPHAR:550 OMIM:176264 Reactome:Q14003 SwissProt:Q14003 KCNC3 potassium voltage-gated channel subfamily C member 3 2q37.1 Kir1.4 Kir7.1 LCA16 ClinVar:KCNJ13 Ensembl:ENSG00000115474 Genatlas:KCNJ13 HGNC:6259 IUPHAR:443 OMIM:603208 SwissProt:O60928 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 7p22.3 SCDO3 ClinVar:LFNG Ensembl:ENSG00000106003 Genatlas:LFNG HGNC:6560 OMIM:602576 Reactome:Q8NES3 SwissProt:Q8NES3 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 2q31.1 DBS Megalin gp330 megalin ClinVar:LRP2 Ensembl:ENSG00000081479 Genatlas:LRP2 HGNC:6694 OMIM:600073 Reactome:P98164 SwissProt:P98164 LRP2 LDL receptor related protein 2 12p13.2 ADCAD2 ClinVar:LRP6 Ensembl:ENSG00000070018 Genatlas:LRP6 HGNC:6698 OMIM:603507 Reactome:O75581 SwissProt:O75581 LRP6 LDL receptor related protein 6 18q21.32 MALT1 protease PCASP1 paracaspase 1 ClinVar:MALT1 Ensembl:ENSG00000172175 Genatlas:MALT1 HGNC:6819 IUPHAR:2983 OMIM:604860 Reactome:Q9UDY8 SwissProt:Q9UDY8 MALT1 MALT1 paracaspase 12q23.2 ASH1 HASH1 bHLHa46 ClinVar:ASCL1 Ensembl:ENSG00000139352 Genatlas:ASCL1 HGNC:738 OMIM:100790 Reactome:P50553 SwissProt:P50553 ASCL1 achaete-scute family bHLH transcription factor 1 mitochondria A6L ATP8 URFA6L mitochondrially encoded ATP synthase membrane subunit A6L ClinVar:MT-ATP8 Ensembl:ENSG00000228253 Genatlas:MT-ATP8 HGNC:7415 IUPHAR:809 OMIM:516070 Reactome:P03928 SwissProt:P03928 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 8q24.21 MYCC bHLHe39 c-Myc ClinVar:MYC Ensembl:ENSG00000136997 Genatlas:MYC HGNC:7553 OMIM:190080 Reactome:P01106 SwissProt:P01106 MYC MYC proto-oncogene, bHLH transcription factor 14q13.2 IKBA IkappaBalpha MAD-3 NF-kappa-B inhibitor alpha ClinVar:NFKBIA Ensembl:ENSG00000100906 Genatlas:NFKBIA HGNC:7797 OMIM:164008 Reactome:P25963 SwissProt:P25963 NFKBIA NFKB inhibitor alpha 5q35.1 B23 NPM Nucleophosmin/nucleoplasmin family, member 1 Numatrin nucleolar phosphoprotein B23 nucleophosmin/nucleoplasmin family, member 1 numatrin ClinVar:NPM1 Ensembl:ENSG00000181163 Genatlas:NPM1 HGNC:7910 OMIM:164040 Reactome:P06748 SwissProt:P06748 NPM1 nucleophosmin 1 18p- syndrome De Grouchy syndrome type 1 Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. Orphanet ICD-10:Q93.5 MeSH:C538309 OMIM:146390 UMLS:C0432442 Not applicable Unknown Neonatal Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1598 Monosomy 18p syndrome ORPHA:1598 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538309 E (Exact mapping: the two concepts are equivalent) OMIM:146390 E (Exact mapping: the two concepts are equivalent) UMLS:C0432442 E (Exact mapping: the two concepts are equivalent) 16p11.2 ClinVar:PHKG2 Ensembl:ENSG00000156873 Genatlas:PHKG2 HGNC:8931 IUPHAR:2147 OMIM:172471 Reactome:P15735 SwissProt:P15735 PHKG2 phosphorylase kinase catalytic subunit gamma 2 6q24.2 LOT1 ZAC ClinVar:PLAGL1 Ensembl:ENSG00000118495 Genatlas:PLAGL1 HGNC:9046 OMIM:603044 Reactome:Q9UM63 SwissProt:Q9UM63 PLAGL1 PLAG1 like zinc finger 1 4p15.32 AC133 AC133 antigen CD133 CORD12 RP41 Retinitis pigmentosa 41, Cone-rod dystrophy 12 ClinVar:PROM1 Ensembl:ENSG00000007062 Genatlas:PROM1 HGNC:9454 OMIM:604365 SwissProt:O43490 PROM1 prominin 1 7p22.1 ß-actin ClinVar:ACTB Ensembl:ENSG00000075624 Genatlas:ACTB HGNC:132 OMIM:102630 Reactome:P60709 SwissProt:P60709 ACTB actin beta 3p21.2 ClinVar:ACY1 Ensembl:ENSG00000243989 Genatlas:ACY1 HGNC:177 OMIM:104620 Reactome:Q03154 SwissProt:Q03154 ACY1 aminoacylase 1 10q24.31 FLJ21832 PEO PEO1 T7 helicase-related protein with intramitochondrial nucleoid localization TWINKLE TWINL ClinVar:C10orf2 Ensembl:ENSG00000107815 Genatlas:C10orf2 HGNC:1160 OMIM:606075 Reactome:Q96RR1 SwissProt:Q96RR1 TWNK twinkle mtDNA helicase 3p26.1 ACV IP3R1 Insp3r1 PPP1R94 protein phosphatase 1, regulatory subunit 94 ClinVar:ITPR1 Ensembl:ENSG00000150995 Genatlas:ITPR1 HGNC:6180 IUPHAR:743 OMIM:147265 Reactome:Q14643 SwissProt:Q14643 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 22q11.22 ERK ERK2 Extracellular signal-regulated kinase 2 MAPK2 p41mapk ClinVar:MAPK1 Ensembl:ENSG00000100030 Genatlas:MAPK1 HGNC:6871 IUPHAR:1495 OMIM:176948 Reactome:P28482 SwissProt:P28482 MAPK1 mitogen-activated protein kinase 1 9q21.2 PSA PSAT phosphoserine transaminase ClinVar:PSAT1 Ensembl:ENSG00000135069 Genatlas:PSAT1 HGNC:19129 OMIM:610936 Reactome:Q9Y617 SwissProt:Q9Y617 PSAT1 phosphoserine aminotransferase 1 15q11.2 HBII-52 ClinVar:SNORD115@ Genatlas:SNORD115@ HGNC:32780 OMIM:609837 SNORD115@ small nucleolar RNA, C/D box 115 cluster 3p22.2 ActR-IIB ClinVar:ACVR2B Ensembl:ENSG00000114739 Genatlas:ACVR2B HGNC:174 IUPHAR:1792 OMIM:602730 Reactome:Q13705 SwissProt:Q13705 ACVR2B activin A receptor type 2B Xq23 AT2 MRX88 ClinVar:AGTR2 Ensembl:ENSG00000180772 Genatlas:AGTR2 HGNC:338 IUPHAR:35 OMIM:300034 Reactome:P50052 SwissProt:P50052 AGTR2 angiotensin II receptor type 2 Xq13.1 KIAA1232 MRX90 NE-Dlg NEDLG PPP1R82 SAP-102 SAP102 neuroendocrine-dlg protein phosphatase 1, regulatory subunit 82 synapse associated protein 102 ClinVar:DLG3 Ensembl:ENSG00000082458 Genatlas:DLG3 HGNC:2902 OMIM:300189 Reactome:Q92796 SwissProt:Q92796 DLG3 discs large MAGUK scaffold protein 3 Xp21.3-p21.2 IL1R8 IL1RAPL-1 OPHN4 TIGIRR-2 Three immunoglobulin domain-containing IL-1 receptor-related 2 ClinVar:IL1RAPL1 Ensembl:ENSG00000169306 Genatlas:IL1RAPL1 HGNC:5996 OMIM:300206 Reactome:Q9NZN1 SwissProt:Q9NZN1 IL1RAPL1 interleukin 1 receptor accessory protein like 1 Xq12 ARHGAP41 OPN1 ClinVar:OPHN1 Ensembl:ENSG00000079482 Genatlas:OPHN1 HGNC:8148 OMIM:300127 Reactome:O60890 SwissProt:O60890 OPHN1 oligophrenin 1 Xq23 bPAK hPAK3 ClinVar:PAK3 Ensembl:ENSG00000077264 Genatlas:PAK3 HGNC:8592 IUPHAR:2135 OMIM:300142 Reactome:O75914 SwissProt:O75914 PAK3 p21 (RAC1) activated kinase 3 8p22 MGC13453 MRT7 MagT2 Magnesium uptake/transporter TUSC3 N33 OST3A SLC58A2 oligosaccharyltransferase 3 homolog A (S. cerevisiae) ClinVar:TUSC3 Ensembl:ENSG00000104723 Genatlas:TUSC3 HGNC:30242 IUPHAR:3040 OMIM:601385 Reactome:Q13454 SwissProt:Q13454 TUSC3 tumor suppressor candidate 3 6p24.3 AP-2 AP-2alpha ClinVar:TFAP2A Ensembl:ENSG00000137203 Genatlas:TFAP2A HGNC:11742 OMIM:107580 Reactome:P05549 SwissProt:P05549 TFAP2A transcription factor AP-2 alpha 5q31.1 QCR8 QP-C UQCR7 complex III subunit 8 ubiquinol-cytochrome c reductase, complex III subunit VII ClinVar:UQCRQ Ensembl:ENSG00000164405 Genatlas:UQCRQ HGNC:29594 OMIM:612080 Reactome:O14949 SwissProt:O14949 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII 19q13.41 MP17 MP19 ClinVar:LIM2 Ensembl:ENSG00000105370 Genatlas:LIM2 HGNC:6610 OMIM:154045 SwissProt:P55344 LIM2 lens intrinsic membrane protein 2 15q21.3 HL HTGL Triacylglycerol lipase ClinVar:LIPC Ensembl:ENSG00000166035 Genatlas:LIPC HGNC:6619 OMIM:151670 Reactome:P11150 SwissProt:P11150 LIPC lipase C, hepatic type 16p13.3 ALS ClinVar:IGFALS Ensembl:ENSG00000099769 Genatlas:IGFALS HGNC:5468 OMIM:601489 Reactome:P35858 SwissProt:P35858 IGFALS insulin like growth factor binding protein acid labile subunit 2q35 BRP17 DKFZp564N1362 DYT8 FKSG19 FPD1 KIAA1184 KIPP1184 MGC31943 MR-1 MR-1S PDC PKND1 TAHCCP2 myofibrillogenesis regulator 1 ClinVar:PNKD Ensembl:ENSG00000127838 Genatlas:PNKD HGNC:9153 OMIM:609023 Reactome:Q8N490 SwissProt:Q8N490 PNKD PNKD metallo-beta-lactamase domain containing Atypical X-linked achromatopsia Blue cone monochromacy Color blindness, blue monocone monochromatic type S cone monochromacy S cone monochromatism X-linked incomplete achromatopsia Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term). Orphanet ICD-10:H53.5 ICD-11:9B70 MeSH:C536238 OMIM:303700 UMLS:C0339537 X-linked recessive Infancy Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=16 Blue cone monochromatism ORPHA:16 ICD-10:H53.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536238 E (Exact mapping: the two concepts are equivalent) OMIM:303700 E (Exact mapping: the two concepts are equivalent) UMLS:C0339537 E (Exact mapping: the two concepts are equivalent) Angiofollicular ganglionic hyperplasia Angiofollicular lymph hyperplasia A rare lymphoid hemopathy characterized by involvement of lymph nodes in any part of the body, most frequently the mediastinum, abdomen, neck, or spleen, and occurring as unicentric, idiopathic multicentric, or KSHV/HHV8-associated multicentric Castleman disease. Depending on the type, patients are most commonly asymptomatic or typically present with systemic symptoms. Orphanet ICD-10:D47.7 ICD-11:4B2Y MeSH:D005871 MedDRA:10050251 OMIM:148000 UMLS:C0017531 Not applicable All ages United States AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=160 Castleman disease ORPHA:160 ICD-10:D47.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:4B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005871 E (Exact mapping: the two concepts are equivalent) MedDRA:10050251 E (Exact mapping: the two concepts are equivalent) OMIM:148000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0017531 E (Exact mapping: the two concepts are equivalent) 18q deletion syndrome 18q- syndrome De Grouchy syndrome type 2 Deletion 18q A partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders. Orphanet ICD-10:Q93.5 MeSH:C536580 OMIM:601808 UMLS:C0432443 Not applicable Antenatal Neonatal Worldwide AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1600 Monosomy 18q syndrome ORPHA:1600 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536580 E (Exact mapping: the two concepts are equivalent) OMIM:601808 E (Exact mapping: the two concepts are equivalent) UMLS:C0432443 E (Exact mapping: the two concepts are equivalent) 1p36 HGNC:3101 DYT13 dystonia 13, torsion 19p13.12 FLJ39501 ClinVar:CYP4F22 Ensembl:ENSG00000171954 Genatlas:CYP4F22 HGNC:26820 IUPHAR:1349 OMIM:611495 Reactome:Q6NT55 SwissProt:Q6NT55 CYP4F22 cytochrome P450 family 4 subfamily F member 22 18q21.32 RAX1 RX retinal homeobox protein Rx ClinVar:RAX Ensembl:ENSG00000134438 Genatlas:RAX HGNC:18662 OMIM:601881 SwissProt:Q9Y2V3 RAX retina and anterior neural fold homeobox 7q21.2 A-kinase anchor protein, 350kDa A-kinase anchoring protein 450 AKAP120-like protein AKAP350 AKAP450 AKAP9-BRAF fusion protein CG-NAP HYPERION KIAA0803 LQT11 MU-RMS-40.16A PPP1R45 PRKA9 YOTIAO centrosome- and golgi-localized protein kinase N-associated protein protein kinase A anchoring protein 9 protein phosphatase 1, regulatory subunit 45 yotiao ClinVar:AKAP9 Ensembl:ENSG00000127914 Genatlas:AKAP9 HGNC:379 OMIM:604001 Reactome:Q99996 SwissProt:Q99996 AKAP9 A-kinase anchoring protein 9 11q23.3 LQT10 ClinVar:SCN4B Ensembl:ENSG00000177098 Genatlas:SCN4B HGNC:10592 OMIM:608256 Reactome:Q8IWT1 SwissProt:Q8IWT1 SCN4B sodium voltage-gated channel beta subunit 4 2p23.2-p23.1 ALK1 CD246 ClinVar:ALK Ensembl:ENSG00000171094 Genatlas:ALK HGNC:427 IUPHAR:1839 OMIM:105590 Reactome:Q9UM73 SwissProt:Q9UM73 ALK ALK receptor tyrosine kinase 19q13.43 ARK3 AurC ClinVar:AURKC Ensembl:ENSG00000105146 Genatlas:AURKC HGNC:11391 IUPHAR:1938 OMIM:603495 Reactome:Q9UQB9 SwissProt:Q9UQB9 AURKC aurora kinase C 11q23.3 APOCIII Apo-C3 Apo-CIII ApoC-3 ApoC-III ClinVar:APOC3 Ensembl:ENSG00000110245 Genatlas:APOC3 HGNC:610 OMIM:107720 Reactome:P02656 SwissProt:P02656 APOC3 apolipoprotein C3 20p12.1 CP115 CP94 Filensin LIFL-H filensin ClinVar:BFSP1 Ensembl:ENSG00000125864 Genatlas:BFSP1 HGNC:1040 OMIM:603307 SwissProt:Q12934 BFSP1 beaded filament structural protein 1 19p13.3 ARMD9 C3a C3a anaphylatoxin C3b CPAMD1 complement component C3a complement component C3b prepro-C3 ClinVar:C3 Ensembl:ENSG00000125730 Genatlas:C3 HGNC:1318 OMIM:120700 Reactome:P01024 SwissProt:P01024 C3 complement C3 6p21.33 C4 C4A2 C4A3 C4A4 C4A6 C4B C4S CO4 CPAMD2 RG ClinVar:C4A Ensembl:ENSG00000244731 Genatlas:C4A HGNC:1323 OMIM:120810 Reactome:P0C0L4 SwissProt:P0C0L4 C4A complement C4A (Chido/Rodgers blood group) 6p21.33 C4B1 C4B3 C4F CH CO4 CPAMD3 ClinVar:C4B Ensembl:ENSG00000224389 Genatlas:C4B HGNC:1324 OMIM:120820 Reactome:P0C0L5 SwissProt:P0C0L5 C4B complement C4B (Chido/Rodgers blood group) 9q33.2 C5a C5a anaphylatoxin C5b CPAMD4 prepro-C5 ClinVar:C5 Ensembl:ENSG00000106804 Genatlas:C5 HGNC:1331 OMIM:120900 Reactome:P01031 SwissProt:P01031 C5 complement C5 5p13.1 ClinVar:C6 Ensembl:ENSG00000039537 Genatlas:C6 HGNC:1339 OMIM:217050 Reactome:P13671 SwissProt:P13671 C6 complement C6 5p13.1 ClinVar:C7 Ensembl:ENSG00000112936 Genatlas:C7 HGNC:1346 OMIM:217070 Reactome:P10643 SwissProt:P10643 C7 complement C7 1p32.2 ClinVar:C8A Ensembl:ENSG00000157131 Genatlas:C8A HGNC:1352 OMIM:120950 Reactome:P07357 SwissProt:P07357 C8A complement C8 alpha chain 1p32.2 ClinVar:C8B Ensembl:ENSG00000021852 Genatlas:C8B HGNC:1353 OMIM:120960 Reactome:P07358 SwissProt:P07358 C8B complement C8 beta chain 9q34.3 ClinVar:C8G Ensembl:ENSG00000176919 Genatlas:C8G HGNC:1354 OMIM:120930 Reactome:P07360 SwissProt:P07360 C8G complement C8 gamma chain 5p13.1 ClinVar:C9 Ensembl:ENSG00000113600 Genatlas:C9 HGNC:1358 OMIM:120940 Reactome:P02748 SwissProt:P02748 C9 complement C9 12p13.33 alpha2delta-4 ClinVar:CACNA2D4 Ensembl:ENSG00000151062 Genatlas:CACNA2D4 HGNC:20202 OMIM:608171 Reactome:Q7Z3S7 SwissProt:Q7Z3S7 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 1q32.2 C3DR CD21 Epstein-Barr virus receptor ClinVar:CR2 Ensembl:ENSG00000117322 Genatlas:CR2 HGNC:2336 OMIM:120650 Reactome:P20023 SwissProt:P20023 CR2 complement C3d receptor 2 Cap inflammatory polyposis Eroded polypoid hyperplasia Inflammatory myoglandular polyps Polypoid prolapsing folds A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea. Orphanet ICD-10:D12.6 ICD-11:2E92.40 UMLS:C4303971 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 67.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=160148 Cap polyposis ORPHA:160148 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E92.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303971 E (Exact mapping: the two concepts are equivalent) 12q13.2 HER3 human epidermal growth factor receptor 3 ClinVar:ERBB3 Ensembl:ENSG00000065361 Genatlas:ERBB3 HGNC:3431 IUPHAR:1798 OMIM:190151 Reactome:P21860 SwissProt:P21860 ERBB3 erb-b2 receptor tyrosine kinase 3 1p36.31 ClinVar:ESPN Ensembl:ENSG00000187017 Genatlas:ESPN HGNC:13281 OMIM:606351 SwissProt:B1AK53 ESPN espin 14q24.3 ERR2 ERRb ERRbeta NR3B2 ClinVar:ESRRB Ensembl:ENSG00000119715 Genatlas:ESRRB HGNC:3473 IUPHAR:623 OMIM:602167 Reactome:O95718 SwissProt:O95718 ESRRB estrogen related receptor beta 3q26.2 KMT8E MDS1-EVI1 PR domain 3 PRDM3 ClinVar:MECOM Ensembl:ENSG00000085276 Genatlas:MECOM HGNC:3498 OMIM:165215 Reactome:Q03112 SwissProt:Q03112 MECOM MDS1 and EVI1 complex locus 9q34.11 hGLE1 ClinVar:GLE1 Ensembl:ENSG00000119392 Genatlas:GLE1 HGNC:4315 OMIM:603371 Reactome:Q53GS7 SwissProt:Q53GS7 GLE1 GLE1 RNA export mediator 10p15.1 CD25 ClinVar:IL2RA Ensembl:ENSG00000134460 Genatlas:IL2RA HGNC:6008 IUPHAR:1695 OMIM:147730 Reactome:P01589 SwissProt:P01589 IL2RA interleukin 2 receptor subunit alpha 3q25.33 CFAP167 FAP167 KIAA1374 ClinVar:IFT80 Ensembl:ENSG00000068885 Genatlas:IFT80 HGNC:29262 OMIM:611177 Reactome:Q9P2H3 SwissProt:Q9P2H3 IFT80 intraflagellar transport 80 19q13.33 GSY ClinVar:GYS1 Ensembl:ENSG00000104812 Genatlas:GYS1 HGNC:4706 OMIM:138570 Reactome:P13807 SwissProt:P13807 GYS1 glycogen synthase 1 5q13.2 FLJ30532 TRIC tricellulin ClinVar:MARVELD2 Ensembl:ENSG00000152939 Genatlas:MARVELD2 HGNC:26401 OMIM:610572 SwissProt:Q8N4S9 MARVELD2 MARVEL domain containing 2 9p24.3 KANK KIAA0172 Kidney ankyrin repeat-containing protein ClinVar:KANK1 Ensembl:ENSG00000107104 Genatlas:KANK1 HGNC:19309 OMIM:607704 Reactome:Q14678 SwissProt:Q14678 KANK1 KN motif and ankyrin repeat domains 1 mitochondria trnI ClinVar:MT-TI Ensembl:ENSG00000210100 Genatlas:MT-TI HGNC:7488 OMIM:590045 MT-TI mitochondrially encoded tRNA-Ile (AUU/C) mitochondria trnW ClinVar:MT-TW Ensembl:ENSG00000210117 Genatlas:MT-TW HGNC:7501 OMIM:590095 MT-TW mitochondrially encoded tRNA-Trp (UGA/G) 9q31.3 ClinVar:MUSK Ensembl:ENSG00000030304 Genatlas:MUSK HGNC:7525 IUPHAR:1847 OMIM:601296 Reactome:O15146 SwissProt:O15146 MUSK muscle associated receptor tyrosine kinase 10p12.1 ClinVar:MYO3A Ensembl:ENSG00000095777 Genatlas:MYO3A HGNC:7601 IUPHAR:2112 OMIM:606808 SwissProt:Q8NEV4 MYO3A myosin IIIA 12p12.3 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma ClinVar:PDE6H Ensembl:ENSG00000139053 Genatlas:PDE6H HGNC:8790 IUPHAR:1317 OMIM:601190 SwissProt:Q13956 PDE6H phosphodiesterase 6H 19p13.3 KIAA0589 LCCS3 PIP5Kgamma ClinVar:PIP5K1C Ensembl:ENSG00000186111 Genatlas:PIP5K1C HGNC:8996 IUPHAR:2165 OMIM:606102 Reactome:O60331 SwissProt:O60331 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma 17p13.2-p13.1 ACKR6 NIR1 RDGBA3 atypical chemokine receptor 6 ClinVar:PITPNM3 Ensembl:ENSG00000091622 Genatlas:PITPNM3 HGNC:21043 OMIM:608921 Reactome:Q9BZ71 SwissProt:Q9BZ71 PITPNM3 PITPNM family member 3 6q22.31 CMD1P ClinVar:PLN Ensembl:ENSG00000198523 Genatlas:PLN HGNC:9080 OMIM:172405 Reactome:P26678 SwissProt:P26678 PLN phospholamban 17q21.32 PDXPO pyridoxal 5'-phosphate synthase ClinVar:PNPO Ensembl:ENSG00000108439 Genatlas:PNPO HGNC:30260 OMIM:603287 Reactome:Q9NVS9 SwissProt:Q9NVS9 PNPO pyridoxamine 5'-phosphate oxidase 7q22.1 DFNB61 PRESTIN deafness, neurosensory, autosomal recessive, 61 ClinVar:SLC26A5 Ensembl:ENSG00000170615 Genatlas:SLC26A5 HGNC:9359 IUPHAR:1104 OMIM:604943 SwissProt:P58743 SLC26A5 solute carrier family 26 member 5 Del(1)(p36) Deletion 1p36 Deletion 1pter Monosomy 1p36 Monosomy 1pter Subtelomeric 1p36 deletion A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency. Orphanet ICD-10:Q93.5 ICD-11:LD44.11 MeSH:C535362 MedDRA:10082398 OMIM:607872 OMIM:616975 UMLS:C1842870 Multigenic/multifactorial Not applicable Antenatal Neonatal United States AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1606 1p36 deletion syndrome ORPHA:1606 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535362 E (Exact mapping: the two concepts are equivalent) MedDRA:10082398 E (Exact mapping: the two concepts are equivalent) OMIM:607872 E (Exact mapping: the two concepts are equivalent) OMIM:616975 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1842870 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Monosomy 20p This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial deletion of the short arm of chromosome 20 OBSOLETE: Deletion 20p ORPHA:1611 Del(2)(q24) Monosomy 2q24 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. Orphanet ICD-10:Q93.5 ICD-11:LD44.20 MeSH:C538316 UMLS:C2931816 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion Etiological subtype ORPHA:1617 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538316 E (Exact mapping: the two concepts are equivalent) UMLS:C2931816 E (Exact mapping: the two concepts are equivalent) Congenital cataract-ASD syndrome Congenital cataract-ASGD syndrome Congenital cataract-ASMD syndrome Congenital cataract-anterior segment mesenchymal dysgenesis syndrome Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. Orphanet ICD-10:Q12.0 UMLS:C4305131 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=162 Congenital cataract-anterior segment dysgenesis syndrome ORPHA:162 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305131 E (Exact mapping: the two concepts are equivalent) 3p deletion syndrome 3p- syndrome Distal monosomy 3p Monosomy 3pter Telomeric monosomy 3p Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. Orphanet ICD-10:Q87.8 OMIM:613792 UMLS:C4706503 Antenatal Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1620 Distal deletion 3p syndrome ORPHA:1620 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613792 E (Exact mapping: the two concepts are equivalent) UMLS:C4706503 E (Exact mapping: the two concepts are equivalent) Del(3)(q13) Monosomy 3q13 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Orphanet ICD-10:Q93.5 ICD-11:LD44.30 MeSH:C536808 OMIM:615433 UMLS:C2931338 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 42.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1621 3q13 microdeletion syndrome ORPHA:1621 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536808 E (Exact mapping: the two concepts are equivalent) OMIM:615433 E (Exact mapping: the two concepts are equivalent) UMLS:C2931338 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Monosomy 4q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial deletion of the long arm of chromosome 4 OBSOLETE: Deletion 4q ORPHA:1625 Isolated apertura pyriformis stenosis Isolated nasal pyriform aperture hypoplasia A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties. Orphanet ICD-10:Q30.8 ICD-11:LA70.Y UMLS:C3839990 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=162516 Isolated congenital nasal pyriform aperture stenosis ORPHA:162516 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3839990 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Apertura pyriformis with holoprosencephaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Microform holoprosencephaly OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly ORPHA:162521 Congenital auditory ossicle malformation without external ear abnormality Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance. Orphanet ICD-10:Q16.3 ICD-11:LA22.3 UMLS:C0158587 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=162526 Isolated congenital auditory ossicle malformation ORPHA:162526 ICD-10:Q16.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA22.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0158587 E (Exact mapping: the two concepts are equivalent) Del (5)(q35) Del (5)(qter) Distal 5q deletion Monosomy 5q35 Telomeric deletion 5q Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the <i>NSD1</i> gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of <i>NKX2.5</i> (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. Orphanet ICD-10:Q93.5 ICD-11:LD44.50 MeSH:C537647 UMLS:C2931574 Not applicable Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1627 Deletion 5q35 syndrome ORPHA:1627 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537647 E (Exact mapping: the two concepts are equivalent) UMLS:C2931574 E (Exact mapping: the two concepts are equivalent) HHCS Hereditary hyperferritinemia with cataracts Hereditary hyperferritinemia-cataract disease A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. Orphanet ICD-10:H26.0 MeSH:C538137 OMIM:600886 UMLS:C1833213 Autosomal dominant All ages Worldwide AND has_cases/families_value : 120.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163 Hereditary hyperferritinemia-cataract syndrome ORPHA:163 ICD-10:H26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538137 E (Exact mapping: the two concepts are equivalent) OMIM:600886 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1833213 E (Exact mapping: the two concepts are equivalent) Brain malformation due to abnormal neuronal migration UMLS:C5679571 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163209 Non-syndromic cerebral malformation due to abnormal neuronal migration Category ORPHA:163209 UMLS:C5679571 E (Exact mapping: the two concepts are equivalent) A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced. Orphanet ICD-10:L93.1 ICD-11:EB50 MedDRA:10057903 UMLS:C0024140 Adult Elderly United States AND has_annual_incidence_average_value : 0.63 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.4805 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163525 Subacute cutaneous lupus erythematosus ORPHA:163525 ICD-10:L93.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10057903 E (Exact mapping: the two concepts are equivalent) UMLS:C0024140 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare cutaneous lupus erythematosus OBSOLETE: Acute cutaneous lupus erythematosus ORPHA:163528 A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. Orphanet ICD-11:EB51 MedDRA:10057929 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163531 Chronic cutaneous lupus erythematosus Clinical group ORPHA:163531 ICD-11:EB51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10057929 E (Exact mapping: the two concepts are equivalent) UMLS:C5681850 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163582 Rare bacterial infectious disease Category ORPHA:163582 UMLS:C5681850 E (Exact mapping: the two concepts are equivalent) UMLS:C5680445 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163585 Rare viral disease Category ORPHA:163585 UMLS:C5680445 E (Exact mapping: the two concepts are equivalent) UMLS:C5680446 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163588 Rare parasitic disease Category ORPHA:163588 UMLS:C5680446 E (Exact mapping: the two concepts are equivalent) UMLS:C5680444 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163591 Rare mycosis Category ORPHA:163591 UMLS:C5680444 E (Exact mapping: the two concepts are equivalent) Alpha-thalassemia hydrops fetalis Alpha-thalassemia major BHFS HBHF Haemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Haemoglobin Bart's hydrops fetalis syndrome Hb Bart's hydrops fetalis syndrome Hemoglobin Bart's disease Hemoglobin Bart's hydrops fetalis Hemoglobin Bart's hydrops fetalis syndrome Homozygous alpha0-thalassemia A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. Orphanet ICD-10:D56.0 ICD-11:3A50.03 OMIM:236750 UMLS:C0272005 Autosomal recessive Antenatal Neonatal South East Asia AND has_birth_prevalence_average_value : 275.0 AND has_birth_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 7.6 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163596 Hb Bart's hydrops fetalis Clinical subtype ORPHA:163596 ICD-10:D56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:236750 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0272005 E (Exact mapping: the two concepts are equivalent) Distal deletion 7q36 Monosomy 7qter Telomeric deletion 7q36 Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. Orphanet ICD-10:Q93.5 ICD-11:LD44.70 UMLS:C4706504 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1636 Distal monosomy 7q36 syndrome ORPHA:1636 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706504 E (Exact mapping: the two concepts are equivalent) ICD-11:5C52.11 UMLS:C5681851 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163631 Bile acid synthesis defect with cholestasis and malabsorption Category ORPHA:163631 ICD-11:5C52.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681851 E (Exact mapping: the two concepts are equivalent) Enchondromatosis Spranger type II Multiple Enchondromatosis type II Multiple Enchondromatosis, Maffucci Type A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported. Orphanet ICD-10:Q78.4 ICD-11:LD2F.1Y OMIM:614569 UMLS:C0024454 Not applicable Childhood Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163634 Maffucci syndrome ORPHA:163634 ICD-10:Q78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614569 E (Exact mapping: the two concepts are equivalent) UMLS:C0024454 E (Exact mapping: the two concepts are equivalent) UMLS:C5680447 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163637 Rare disorder related with pregnancy, childbirth and puerperium Category ORPHA:163637 UMLS:C5680447 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia, Nishimura type Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 UMLS:C4305147 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305147 E (Exact mapping: the two concepts are equivalent) SED-BDS Spondyloepiphyseal dysplasia, Cantu type Tattoo dysplasia Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C567128 OMIM:611717 UMLS:C2673649 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome ORPHA:163654 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567128 E (Exact mapping: the two concepts are equivalent) OMIM:611717 E (Exact mapping: the two concepts are equivalent) UMLS:C2673649 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:600561 UMLS:C4305148 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163662 Spondyloepiphyseal dysplasia, Reardon type ORPHA:163662 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600561 E (Exact mapping: the two concepts are equivalent) UMLS:C4305148 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:271620 UMLS:C4304888 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163665 Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:271620 E (Exact mapping: the two concepts are equivalent) UMLS:C4304888 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:184000 UMLS:C4305149 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163668 Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:184000 E (Exact mapping: the two concepts are equivalent) UMLS:C4305149 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepiphyseal dysplasia tarda OMIM:183850 UMLS:C1866727 Spondyloepiphyseal dysplasia, Byers type ORPHA:163673 OMIM:183850 E (Exact mapping: the two concepts are equivalent) UMLS:C1866727 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spondylometaphyseal dysplasia OBSOLETE: Unclassified spondylometaphyseal dysplasia ORPHA:163678 CDFE syndrome CDFES CNTNAP2-related DEE Cortical dysplasia-focal epilepsy syndrome A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. Orphanet ICD-10:Q04.8 OMIM:610042 UMLS:C5575702 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163681 CNTNAP2-related developmental and epileptic encephalopathy ORPHA:163681 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610042 E (Exact mapping: the two concepts are equivalent) UMLS:C5575702 E (Exact mapping: the two concepts are equivalent) Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. Orphanet ICD-10:E75.2 OMIM:613724 UMLS:C4518784 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome ORPHA:163684 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613724 E (Exact mapping: the two concepts are equivalent) UMLS:C4518784 E (Exact mapping: the two concepts are equivalent) HCS A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages. Orphanet ICD-10:E72.0 ICD-11:5C60.Y MeSH:C564710 MedDRA:10083099 OMIM:606407 UMLS:C1848030 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163690 Hypotonia-cystinuria syndrome ORPHA:163690 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564710 E (Exact mapping: the two concepts are equivalent) MedDRA:10083099 E (Exact mapping: the two concepts are equivalent) OMIM:606407 E (Exact mapping: the two concepts are equivalent) UMLS:C1848030 E (Exact mapping: the two concepts are equivalent) 2p21 deletion syndrome Del(2)(p21) Monosomy 2p21 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. Orphanet ICD-10:Q93.5 ICD-11:LD44.21 OMIM:606407 UMLS:C4304537 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163693 2p21 microdeletion syndrome ORPHA:163693 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606407 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304537 E (Exact mapping: the two concepts are equivalent) AMRF EPM4 Myoclonus-nephropathy syndrome Progressive myoclonic epilepsy type 4 Progressive myoclonus epilepsy type 4 A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. Orphanet ICD-10:G40.4 ICD-11:GB4Z OMIM:254900 UMLS:C0751779 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163696 Action myoclonus-renal failure syndrome ORPHA:163696 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB4Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:254900 E (Exact mapping: the two concepts are equivalent) UMLS:C0751779 E (Exact mapping: the two concepts are equivalent) ASPS Alveolar soft part sarcoma A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance. Orphanet ICD-10:C49.9 MeSH:D018234 MedDRA:10001882 OMIM:606243 UMLS:C0206657 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163699 Alveolar soft tissue sarcoma ORPHA:163699 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018234 E (Exact mapping: the two concepts are equivalent) MedDRA:10001882 E (Exact mapping: the two concepts are equivalent) OMIM:606243 E (Exact mapping: the two concepts are equivalent) UMLS:C0206657 E (Exact mapping: the two concepts are equivalent) AERRPS Acute encephalitis with refractory repetitive partial seizures Acute non-herpetic encephalitis with severe refractory status epilepticus DESC syndrome Devastating epileptic encephalopathy in school-aged children FIRES Fever-induced refractory epileptic encephalopathy in school-aged children A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature. Orphanet ICD-10:G40.5 ICD-11:8A63.Y MedDRA:10079438 UMLS:C4049262 Not applicable All ages Germany AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163703 Febrile infection-related epilepsy syndrome ORPHA:163703 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A63.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10079438 E (Exact mapping: the two concepts are equivalent) UMLS:C4049262 E (Exact mapping: the two concepts are equivalent) Late-onset infantile spasms Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. Orphanet ICD-10:G40.4 ICD-11:8A61.2Y UMLS:C4755310 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163708 Cryptogenic late-onset epileptic spasms ORPHA:163708 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4755310 E (Exact mapping: the two concepts are equivalent) Benign FMTLE Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. Orphanet ICD-10:G40.0 ICD-11:8A61.4Y OMIM:611630 OMIM:614417 OMIM:615697 UMLS:C4749273 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163717 Benign familial mesial temporal lobe epilepsy ORPHA:163717 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611630 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614417 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615697 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749273 E (Exact mapping: the two concepts are equivalent) Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. Orphanet ICD-10:G40.8 ICD-11:8A61.2Y OMIM:245570 OMIM:300643 UMLS:C4707308 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163721 Rolandic epilepsy-speech dyspraxia syndrome ORPHA:163721 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245570 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:300643 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707308 E (Exact mapping: the two concepts are equivalent) Rolandic epilepsy exercise-induced dystonia A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. Orphanet ICD-10:G40.4 ICD-11:8A61.2Y MeSH:C535499 OMIM:608105 UMLS:C1842531 Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ORPHA:163727 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535499 E (Exact mapping: the two concepts are equivalent) OMIM:608105 E (Exact mapping: the two concepts are equivalent) UMLS:C1842531 E (Exact mapping: the two concepts are equivalent) Neurologic Waardenburg-Shah syndrome PCWH WS4 plus Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. Orphanet ICD-10:E75.2 MeSH:C563789 OMIM:609136 UMLS:C1836727 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563789 E (Exact mapping: the two concepts are equivalent) OMIM:609136 E (Exact mapping: the two concepts are equivalent) UMLS:C1836727 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis ORPHA:163892 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune encephalitis OBSOLETE: Paraneoplastic limbic encephalitis ORPHA:163895 OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Classic paraneoplastic limbic encephalitis ORPHA:163898 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens ORPHA:163903 OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with LGI1 antibodies ORPHA:163908 OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with nCMAgs antibodies ORPHA:163914 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune encephalitis OBSOLETE: Non-paraneoplastic limbic encephalitis ORPHA:163918 PALE Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. Orphanet ICD-10:G04.8 UMLS:C4750744 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163921 Posttransplant acute limbic encephalitis ORPHA:163921 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750744 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Non-herpetic acute limbic encephalitis ORPHA:163924 LPP Localized pustular psoriasis PPP Palmoplantar pustulosis A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking. Orphanet ICD-10:L40.3 ICD-11:EA90.42 MedDRA:10050185 UMLS:C0030246 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163927 Pustulosis palmaris et plantaris ORPHA:163927 ICD-10:L40.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EA90.42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10050185 E (Exact mapping: the two concepts are equivalent) UMLS:C0030246 E (Exact mapping: the two concepts are equivalent) A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed. Orphanet ICD-10:L40.2 ICD-11:EA90.41 UMLS:C0392439 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163931 Acrodermatitis continua of Hallopeau ORPHA:163931 ICD-10:L40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EA90.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0392439 E (Exact mapping: the two concepts are equivalent) A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis. Orphanet ICD-10:H16.2 ICD-11:9A60.0Y MedDRA:10069664 UMLS:C1274788 Not applicable All ages Europe AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163934 Atopic keratoconjunctivitis ORPHA:163934 ICD-10:H16.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A60.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069664 E (Exact mapping: the two concepts are equivalent) UMLS:C1274788 E (Exact mapping: the two concepts are equivalent) MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. Orphanet ICD-10:Q04.3 ICD-11:LD90.Y OMIM:300749 UMLS:C2677903 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 35.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163937 X-linked intellectual disability, Najm type ORPHA:163937 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300749 E (Exact mapping: the two concepts are equivalent) UMLS:C2677903 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lujan-Fryns syndrome OMIM:300799 X-linked intellectual disability, Raymond type ORPHA:163953 OMIM:300799 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300860 UMLS:C4512071 X-linked recessive Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163956 X-linked intellectual disability, Nascimento type ORPHA:163956 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300860 E (Exact mapping: the two concepts are equivalent) UMLS:C4512071 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability, Kroes type X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. Orphanet ICD-10:Q87.8 OMIM:300864 UMLS:C3275487 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163961 X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300864 E (Exact mapping: the two concepts are equivalent) UMLS:C3275487 E (Exact mapping: the two concepts are equivalent) X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. Orphanet ICD-10:Q87.8 OMIM:300863 UMLS:C4304401 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300863 E (Exact mapping: the two concepts are equivalent) UMLS:C4304401 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-microcephaly-testicular failure syndrome A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4305024 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163971 X-linked intellectual disability, Cilliers type ORPHA:163971 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305024 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:301030 UMLS:C4305072 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163976 X-linked intellectual disability, Van Esch type ORPHA:163976 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:301030 E (Exact mapping: the two concepts are equivalent) UMLS:C4305072 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300712 UMLS:C4750743 Unknown Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163979 X-linked intellectual disability-craniofacioskeletal syndrome ORPHA:163979 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300712 E (Exact mapping: the two concepts are equivalent) UMLS:C4750743 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Allan-Herndon-Dudley syndrome OMIM:309640 X-linked intellectual disability-spastic quadriparesis syndrome ORPHA:163982 OMIM:309640 E (Exact mapping: the two concepts are equivalent) A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. Orphanet ICD-10:G25.8 OMIM:300607 UMLS:C5191643 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=163985 Hyperekplexia-epilepsy syndrome ORPHA:163985 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300607 E (Exact mapping: the two concepts are equivalent) UMLS:C5191643 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xq21 microdeletion syndrome OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type ORPHA:163988 NON RARE IN EUROPE: Brain cavernous angioma NON RARE IN EUROPE: Brain cavernous hemangioma NON RARE IN EUROPE: Cerebral cavernoma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cerebral cavernous malformations ORPHA:164 UMLS:C5680435 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=164001 Rare odontal or periodontal disorder Category ORPHA:164001 UMLS:C5680435 E (Exact mapping: the two concepts are equivalent) MedDRA:10060957 UMLS:C0266599 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=164004 Middle and/or inner ear anomaly Category ORPHA:164004 MedDRA:10060957 E (Exact mapping: the two concepts are equivalent) UMLS:C0266599 E (Exact mapping: the two concepts are equivalent) Distal monosomy 9p Monosomy 9pter Telomeric deletion 9p Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. Orphanet ICD-10:Q93.5 MeSH:C538025 UMLS:C0265425 Infancy Neonatal Worldwide AND has_cases/families_value : 89.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1642 Distal deletion 9p syndrome ORPHA:1642 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538025 E (Exact mapping: the two concepts are equivalent) UMLS:C0265425 E (Exact mapping: the two concepts are equivalent) Del(X)(p23) Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. Orphanet ICD-10:Q99.8 UMLS:C4512072 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1643 Xp22.3 microdeletion syndrome ORPHA:1643 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4512072 E (Exact mapping: the two concepts are equivalent) Male infertility due to chromosome Y microdeletion Microdeletion of the AZF region on the Y chromosome A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion. Orphanet ICD-10:Q98.6 ICD-11:5A81.1 MeSH:C536297 OMIM:400042 OMIM:415000 UMLS:C1507149 Not applicable Y-linked Adult Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 20.8 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1646 Chromosome Y microdeletion syndrome ORPHA:1646 ICD-10:Q98.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536297 E (Exact mapping: the two concepts are equivalent) OMIM:400042 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:415000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1507149 E (Exact mapping: the two concepts are equivalent) Delleman syndrome Delleman-Oorthuys syndrome Leichtman-Wood-Rohn syndrome OCCS Orbital cyst with cerebral and focal dermal malformations A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD20.Y MeSH:C538088 MedDRA:10088432 OMIM:164180 UMLS:C0796092 Not applicable Neonatal Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1647 Oculocerebrocutaneous syndrome ORPHA:1647 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538088 E (Exact mapping: the two concepts are equivalent) MedDRA:10088432 E (Exact mapping: the two concepts are equivalent) OMIM:164180 E (Exact mapping: the two concepts are equivalent) UMLS:C0796092 E (Exact mapping: the two concepts are equivalent) AML and myelodysplastic syndromes related to radiation A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. Orphanet ICD-10:D46.7 ICD-11:2A60.20 UMLS:C4707660 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation ORPHA:164726 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707660 E (Exact mapping: the two concepts are equivalent) FASPS A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder. Orphanet ICD-10:G47.2 ICD-11:7A6Z MeSH:C565789 OMIM:604348 OMIM:615224 OMIM:616882 OMIM:620015 UMLS:C1858496 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=164736 Familial advanced sleep-phase syndrome ORPHA:164736 ICD-10:G47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:7A6Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565789 E (Exact mapping: the two concepts are equivalent) OMIM:604348 E (Exact mapping: the two concepts are equivalent) OMIM:615224 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616882 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620015 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1858496 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Cortical Lewy body disease NON RARE IN EUROPE: DLB NON RARE IN EUROPE: Diffuse Lewy body disease NON RARE IN EUROPE: Lewy body dementia This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Dementia with Lewy body ORPHA:1648 UMLS:C5680440 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=164823 Rare acquired aplastic anemia Category ORPHA:164823 UMLS:C5680440 E (Exact mapping: the two concepts are equivalent) Lipidosis with triglyceride storage disease Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished. Orphanet ICD-11:5C52.2 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165 Neutral lipid storage disease Clinical group ORPHA:165 ICD-11:5C52.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Dennis-Cohen syndrome ORPHA:1651 Dent syndrome Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Renal Fanconi syndrome with nephrocalcinosis and renal stones X-linked recessive hypercalciuric hypophosphatemic rickets X-linked recessive nephrolithiasis A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with <i>CLCN5</i> variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with <i>OCRL1</i> variants. Orphanet ICD-10:N25.8 ICD-11:GB90.42 MeSH:D057973 MedDRA:10069199 OMIM:300009 OMIM:300554 OMIM:300555 OMIM:308990 OMIM:310468 UMLS:C0878681 X-linked recessive Childhood Worldwide AND has_cases/families_value : 250.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1652 Dent disease ORPHA:1652 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D057973 E (Exact mapping: the two concepts are equivalent) MedDRA:10069199 E (Exact mapping: the two concepts are equivalent) OMIM:300009 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300554 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300555 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:310468 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0878681 E (Exact mapping: the two concepts are equivalent) DD Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms). Orphanet ICD-10:K00.5 ICD-11:LA30.7 MeSH:D003805 OMIM:125400 OMIM:125420 UMLS:C0011430 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1653 Dentin dysplasia ORPHA:1653 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA30.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003805 E (Exact mapping: the two concepts are equivalent) OMIM:125400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:125420 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0011430 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal intestinal pseudoobstruction OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome ORPHA:1654 Urioste syndrome A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Orphanet ICD-10:Q87.8 MeSH:C536478 OMIM:235255 UMLS:C1856159 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536478 E (Exact mapping: the two concepts are equivalent) OMIM:235255 E (Exact mapping: the two concepts are equivalent) UMLS:C1856159 E (Exact mapping: the two concepts are equivalent) 17p13.1 bHLH factor Hes7 bHLHb37 ClinVar:HES7 Ensembl:ENSG00000179111 Genatlas:HES7 HGNC:15977 OMIM:608059 Reactome:Q9BYE0 SwissProt:Q9BYE0 HES7 hes family bHLH transcription factor 7 Duhring-Brocq disease A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance. Orphanet ICD-10:L13.0 ICD-11:EB44 MeSH:D003874 MedDRA:10012468 OMIM:601230 UMLS:C0011608 Not applicable All ages Europe AND has_point_prevalence_average_value : 27.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 3.5 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 75.3 AND has_point_prevalence_range : 6-9 / 10 000 Ireland AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 17.6 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 11.5 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 11.2 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1656 Dermatitis herpetiformis ORPHA:1656 ICD-10:L13.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB44 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003874 E (Exact mapping: the two concepts are equivalent) MedDRA:10012468 E (Exact mapping: the two concepts are equivalent) OMIM:601230 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0011608 E (Exact mapping: the two concepts are equivalent) UMLS:C5680439 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165652 Rare genetic gastroenterological disease Category ORPHA:165652 UMLS:C5680439 E (Exact mapping: the two concepts are equivalent) UMLS:C5680438 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165655 Genetic intestinal disease Category ORPHA:165655 UMLS:C5680438 E (Exact mapping: the two concepts are equivalent) UMLS:C5680437 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165658 Genetic gastro-esophageal disease Category ORPHA:165658 UMLS:C5680437 E (Exact mapping: the two concepts are equivalent) UMLS:C5680436 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165661 Genetic pancreatic disease Category ORPHA:165661 UMLS:C5680436 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:C535373 OMIM:221810 UMLS:C1857301 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1657 Dermatoosteolysis, Kirghizian type ORPHA:1657 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535373 E (Exact mapping: the two concepts are equivalent) OMIM:221810 E (Exact mapping: the two concepts are equivalent) UMLS:C1857301 E (Exact mapping: the two concepts are equivalent) UMLS:C5680443 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165704 Non-syndromic urogenital tract malformation Category ORPHA:165704 UMLS:C5680443 E (Exact mapping: the two concepts are equivalent) UMLS:C5680442 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165707 Syndromic urogenital tract malformation Category ORPHA:165707 UMLS:C5680442 E (Exact mapping: the two concepts are equivalent) UMLS:C5680441 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165711 Rare abdominal surgical disease Category Head of classification ORPHA:165711 UMLS:C5680441 E (Exact mapping: the two concepts are equivalent) Absence of dermatoglyphics-congenital milia syndrome Baird syndrome Basan-Baird syndrome A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y OMIM:129200 UMLS:C4304581 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1658 Absence of fingerprints-congenital milia syndrome ORPHA:1658 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:129200 E (Exact mapping: the two concepts are equivalent) UMLS:C4304581 E (Exact mapping: the two concepts are equivalent) A rare, genetic, familial partial epilepsy disease characterized by simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedant history of febrile seizures, ocurring in various members of a family. Hippocampal abnormalities (e.g. hippocampal sclerosis) may also be associated. Orphanet ICD-10:G40.0 ICD-11:8A61.4Y OMIM:614418 UMLS:C5191318 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165805 Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614418 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5191318 E (Exact mapping: the two concepts are equivalent) 17q25.3 CKID CKIdelta HCKID ClinVar:CSNK1D Ensembl:ENSG00000141551 Genatlas:CSNK1D HGNC:2452 IUPHAR:1997 OMIM:600864 Reactome:P48730 SwissProt:P48730 CSNK1D casein kinase 1 delta 9p24.2 Gli-similar 3 MGC33662 ClinVar:GLIS3 Ensembl:ENSG00000107249 Genatlas:GLIS3 HGNC:28510 OMIM:610192 SwissProt:Q8NEA6 GLIS3 GLIS family zinc finger 3 1q22 ENDAP MAPBPIP MAPKSP1 adaptor protein MAPKSP1AP Ragulator2 endosomal adaptor protein mitogen activated protein binding protein interacting protein p14 ClinVar:LAMTOR2 Ensembl:ENSG00000116586 Genatlas:LAMTOR2 HGNC:29796 OMIM:610389 Reactome:Q9Y2Q5 SwissProt:Q9Y2Q5 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Cutis laxa-leukodystrophy A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. Orphanet ICD-10:E75.2 MeSH:C538220 OMIM:221790 UMLS:C1857314 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1659 Dermatoleukodystrophy ORPHA:1659 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538220 E (Exact mapping: the two concepts are equivalent) OMIM:221790 E (Exact mapping: the two concepts are equivalent) UMLS:C1857314 E (Exact mapping: the two concepts are equivalent) 6q23.2 CCN2 IGFBP8 ClinVar:CTGF Ensembl:ENSG00000118523 Genatlas:CTGF HGNC:2500 OMIM:121009 Reactome:P29279 SwissProt:P29279 CCN2 cellular communication network factor 2 1p32.3 ClinVar:SCP2 Ensembl:ENSG00000116171 Genatlas:SCP2 HGNC:10606 OMIM:184755 Reactome:P22307 SwissProt:P22307 SCP2 sterol carrier protein 2 4q21.1 HLGP85 LIMP-2 LIMPII SR-BII lysosomal integral membrane protein II lysosome membrane protein 2 ClinVar:SCARB2 Ensembl:ENSG00000138760 Genatlas:SCARB2 HGNC:1665 OMIM:602257 Reactome:Q14108 SwissProt:Q14108 SCARB2 scavenger receptor class B member 2 2p21 KIAA0436 ClinVar:PREPL Ensembl:ENSG00000138078 Genatlas:PREPL HGNC:30228 IUPHAR:2870 OMIM:609557 SwissProt:Q4J6C6 PREPL prolyl endopeptidase like 7q35-q36.1 Caspr2 KIAA0868 NRXN4 contactin-associated protein-like 2 ClinVar:CNTNAP2 Ensembl:ENSG00000174469 Genatlas:CNTNAP2 HGNC:13830 OMIM:604569 SwissProt:Q9UHC6 CNTNAP2 contactin associated protein 2 Traumatic myiasis A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others. Orphanet ICD-10:B87.1 ICD-11:1G01.3 UMLS:C0344061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165955 Wound myiasis ORPHA:165955 ICD-10:B87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1G01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344061 E (Exact mapping: the two concepts are equivalent) Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. Orphanet ICD-10:B87.8 ICD-11:1G01.0 ICD-11:1G01.1 ICD-11:1G01.2 ICD-11:1G01.Y UMLS:C4707154 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165958 Cavitary myiasis ORPHA:165958 ICD-10:B87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1G01.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1G01.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1G01.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1G01.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707154 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Cutaneous myiasis OBSOLETE: Subcutaneous myiasis ORPHA:165961 1q21.3 acetylcholine receptor, nicotinic, beta 2 (neuronal) ClinVar:CHRNB2 Ensembl:ENSG00000160716 Genatlas:CHRNB2 HGNC:1962 IUPHAR:472 OMIM:118507 Reactome:P17787 SwissProt:P17787 CHRNB2 cholinergic receptor nicotinic beta 2 subunit Xp11.4 CAGH39 FGS4 LIN2 ClinVar:CASK Ensembl:ENSG00000147044 Genatlas:CASK HGNC:1497 IUPHAR:1959 OMIM:300172 Reactome:O14936 SwissProt:O14936 CASK calcium/calmodulin dependent serine protein kinase Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form UMLS:C5679570 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165985 Diazoxide-sensitive diffuse hyperinsulinism Clinical group ORPHA:165985 UMLS:C5679570 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy. Orphanet UMLS:C5679569 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165988 Diazoxide-resistant diffuse hyperinsulinism Clinical group ORPHA:165988 UMLS:C5679569 E (Exact mapping: the two concepts are equivalent) EIHI Exercise-induced hyperinsulinemic hypoglycemia Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Orphanet ICD-10:E16.1 ICD-11:5A45 MeSH:C538376 OMIM:610021 UMLS:C1864902 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=165991 Exercise-induced hyperinsulinism ORPHA:165991 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A45 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538376 E (Exact mapping: the two concepts are equivalent) OMIM:610021 E (Exact mapping: the two concepts are equivalent) UMLS:C1864902 E (Exact mapping: the two concepts are equivalent) PRTH Selective pituitary resistance to thyroid hormone This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta UMLS:C1840364 Pituitary resistance to thyroid hormone ORPHA:165994 UMLS:C1840364 E (Exact mapping: the two concepts are equivalent) CMT/HMSN Charcot-Marie-Tooth hereditary neuropathy ICD-11:8C20 MeSH:D002607 MedDRA:10034699 UMLS:C0007959 Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive All ages Cyprus AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 Iceland AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 17.5 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_point_prevalence_average_value : 10.8 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 61.0 AND has_point_prevalence_range : 6-9 / 10 000 Serbia AND has_point_prevalence_average_value : 9.7 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 28.2 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 19.55 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 15.95 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Category ORPHA:166 ICD-11:8C20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002607 E (Exact mapping: the two concepts are equivalent) MedDRA:10034699 E (Exact mapping: the two concepts are equivalent) UMLS:C0007959 E (Exact mapping: the two concepts are equivalent) A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C565103 OMIM:125640 UMLS:C1852144 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1660 Dermoodontodysplasia ORPHA:1660 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565103 E (Exact mapping: the two concepts are equivalent) OMIM:125640 E (Exact mapping: the two concepts are equivalent) UMLS:C1852144 E (Exact mapping: the two concepts are equivalent) Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. Orphanet ICD-10:Q77.3 ICD-11:LD24.61 OMIM:600204 OMIM:600969 OMIM:614135 UMLS:C4707798 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly ORPHA:166002 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600204 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600969 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614135 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707798 E (Exact mapping: the two concepts are equivalent) Multiple epiphyseal dysplasia-myopia-deafness syndrome Multiple epiphyseal dysplasia-myopia-hearing loss syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Stickler syndrome OMIM:132450 UMLS:C4304499 Multiple epiphyseal dysplasia, Beighton type ORPHA:166011 OMIM:132450 E (Exact mapping: the two concepts are equivalent) UMLS:C4304499 E (Exact mapping: the two concepts are equivalent) Multiple epiphyseal dysplasia with Robin phenotype Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. Orphanet ICD-10:Q78.8 MeSH:C563291 OMIM:601560 UMLS:C1832112 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166016 Multiple epiphyseal dysplasia, Lowry type ORPHA:166016 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563291 E (Exact mapping: the two concepts are equivalent) OMIM:601560 E (Exact mapping: the two concepts are equivalent) UMLS:C1832112 E (Exact mapping: the two concepts are equivalent) Multiple epiphyseal dysplasia, Al-Gazali type A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and <i>genu valgum</i>. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and <i>pectus excavatum</i>. Orphanet ICD-10:Q77.3 ICD-11:LD24.61 OMIM:607131 UMLS:C4304500 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome ORPHA:166024 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607131 E (Exact mapping: the two concepts are equivalent) UMLS:C4304500 E (Exact mapping: the two concepts are equivalent) Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. Orphanet ICD-10:Q77.3 ICD-11:LD24.61 MeSH:C563736 OMIM:609324 UMLS:C1836315 Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome ORPHA:166029 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563736 E (Exact mapping: the two concepts are equivalent) OMIM:609324 E (Exact mapping: the two concepts are equivalent) UMLS:C1836315 E (Exact mapping: the two concepts are equivalent) Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. Orphanet ICD-10:Q77.3 ICD-11:LD24.61 MeSH:C563735 OMIM:609325 UMLS:C1836307 Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome ORPHA:166032 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563735 E (Exact mapping: the two concepts are equivalent) OMIM:609325 E (Exact mapping: the two concepts are equivalent) UMLS:C1836307 E (Exact mapping: the two concepts are equivalent) Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies. Orphanet ICD-10:Q87.8 OMIM:250410 UMLS:C5190709 Childhood Infancy Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166035 Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:250410 E (Exact mapping: the two concepts are equivalent) UMLS:C5190709 E (Exact mapping: the two concepts are equivalent) Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q78.5 MeSH:C565400 OMIM:250230 UMLS:C1855217 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166038 Metaphyseal chondrodysplasia, Kaitila type ORPHA:166038 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565400 E (Exact mapping: the two concepts are equivalent) OMIM:250230 E (Exact mapping: the two concepts are equivalent) UMLS:C1855217 E (Exact mapping: the two concepts are equivalent) Xq11.1 KIAA0424 PEM-2 collybistin ClinVar:ARHGEF9 Ensembl:ENSG00000131089 Genatlas:ARHGEF9 HGNC:14561 OMIM:300429 Reactome:O43307 SwissProt:O43307 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Olivopontocerebellar hypoplasia PCH4 A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 MeSH:C536716 OMIM:225753 UMLS:C1856974 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166063 Pontocerebellar hypoplasia type 4 ORPHA:166063 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536716 E (Exact mapping: the two concepts are equivalent) OMIM:225753 E (Exact mapping: the two concepts are equivalent) UMLS:C1856974 E (Exact mapping: the two concepts are equivalent) Fetal-onset olivopontocerebellar hypoplasia PCH5 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pontocerebellar hypoplasia type 4 OMIM:610204 UMLS:C1857762 Pontocerebellar hypoplasia type 5 ORPHA:166068 OMIM:610204 E (Exact mapping: the two concepts are equivalent) UMLS:C1857762 E (Exact mapping: the two concepts are equivalent) Fatal infantile encephalopathy with mitochondrial respiratory chain defects PCH6 A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 MeSH:C548074 OMIM:611523 UMLS:C1969084 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166073 Pontocerebellar hypoplasia type 6 ORPHA:166073 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548074 E (Exact mapping: the two concepts are equivalent) OMIM:611523 E (Exact mapping: the two concepts are equivalent) UMLS:C1969084 E (Exact mapping: the two concepts are equivalent) A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). Orphanet ICD-10:D68.0 ICD-11:3B12 MeSH:D056725 OMIM:193400 UMLS:C1264039 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166078 Von Willebrand disease type 1 Clinical subtype ORPHA:166078 ICD-10:D68.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056725 E (Exact mapping: the two concepts are equivalent) OMIM:193400 E (Exact mapping: the two concepts are equivalent) UMLS:C1264039 E (Exact mapping: the two concepts are equivalent) A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. Orphanet ICD-10:D68.0 ICD-11:3B12 MeSH:D056728 OMIM:613554 UMLS:C1264040 Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_average_value : 0.935 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166081 Von Willebrand disease type 2 Clinical subtype ORPHA:166081 ICD-10:D68.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056728 E (Exact mapping: the two concepts are equivalent) OMIM:613554 E (Exact mapping: the two concepts are equivalent) UMLS:C1264040 E (Exact mapping: the two concepts are equivalent) A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). Orphanet ICD-10:D68.0 ICD-11:3B12 OMIM:613554 UMLS:C1282968 Autosomal dominant Autosomal recessive Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166084 Von Willebrand disease type 2A Clinical subtype ORPHA:166084 ICD-10:D68.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1282968 E (Exact mapping: the two concepts are equivalent) A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). Orphanet ICD-10:D68.0 ICD-11:3B12 OMIM:613554 UMLS:C1282971 Autosomal dominant Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166087 Von Willebrand disease type 2B Clinical subtype ORPHA:166087 ICD-10:D68.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1282971 E (Exact mapping: the two concepts are equivalent) A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). Orphanet ICD-10:D68.0 ICD-11:3B12 OMIM:613554 UMLS:C1282974 Autosomal dominant Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166090 Von Willebrand disease type 2M Clinical subtype ORPHA:166090 ICD-10:D68.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1282974 E (Exact mapping: the two concepts are equivalent) A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.). Orphanet ICD-10:D68.0 ICD-11:3B12 OMIM:613554 UMLS:C1282975 Autosomal recessive Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166093 Von Willebrand disease type 2N Clinical subtype ORPHA:166093 ICD-10:D68.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613554 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1282975 E (Exact mapping: the two concepts are equivalent) A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. Orphanet ICD-10:D68.0 ICD-11:3B12 MeSH:D056729 OMIM:277480 UMLS:C1264041 Autosomal recessive Infancy Neonatal Austria AND has_point_prevalence_average_value : 0.037 AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.016 AND has_point_prevalence_range : <1 / 1 000 000 Greece AND has_birth_prevalence_average_value : 0.044 AND has_birth_prevalence_range : <1 / 1 000 000 Israel AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.055 AND has_point_prevalence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.037 AND has_point_prevalence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.022 AND has_point_prevalence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.011 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.312 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.027 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.1865 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166096 Von Willebrand disease type 3 Clinical subtype ORPHA:166096 ICD-10:D68.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056729 E (Exact mapping: the two concepts are equivalent) OMIM:277480 E (Exact mapping: the two concepts are equivalent) UMLS:C1264041 E (Exact mapping: the two concepts are equivalent) Corneal dystrophy epithelial-short stature syndrome Guízar Vázquez-Luengas-Muñoz syndrome X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. Orphanet ICD-10:Q13.4 ICD-11:2F36.Y MeSH:C535376 OMIM:304730 UMLS:C1844671 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1661 X-linked corneal dermoid ORPHA:1661 ICD-10:Q13.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F36.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535376 E (Exact mapping: the two concepts are equivalent) OMIM:304730 E (Exact mapping: the two concepts are equivalent) UMLS:C1844671 E (Exact mapping: the two concepts are equivalent) AD OSMED Stickler syndrome type 3 Stickler syndrome, non-ocular type A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C537494 OMIM:184840 UMLS:C1861481 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537494 E (Exact mapping: the two concepts are equivalent) OMIM:184840 E (Exact mapping: the two concepts are equivalent) UMLS:C1861481 E (Exact mapping: the two concepts are equivalent) A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. Orphanet ICD-10:G71.3 ICD-11:5C53.2Y OMIM:618855 UMLS:C4755278 Autosomal recessive Adolescent Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166105 FASTKD2-related infantile mitochondrial encephalomyopathy ORPHA:166105 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:618855 E (Exact mapping: the two concepts are equivalent) UMLS:C4755278 E (Exact mapping: the two concepts are equivalent) Birk-Barel Intellectual Disability-Dimorphism syndrome Intellectual disability-hypotonia-facial dysmorphism syndrome KCNK9 imprinting syndrome Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features. Orphanet ICD-10:Q87.8 MeSH:C567357 OMIM:612292 UMLS:C2676770 Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166108 Birk-Barel syndrome ORPHA:166108 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567357 E (Exact mapping: the two concepts are equivalent) OMIM:612292 E (Exact mapping: the two concepts are equivalent) UMLS:C2676770 E (Exact mapping: the two concepts are equivalent) Acrokeratosis of Bazex Acrokeratosis paraneoplastica Acrokeratosis paraneoplastica of Bazex A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies). Orphanet ICD-10:L44.8 ICD-11:EL10 MedDRA:10065247 UMLS:C0406355 Not applicable Adult Worldwide AND has_cases/families_value : 145.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166113 Bazex syndrome ORPHA:166113 ICD-10:L44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EL10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065247 E (Exact mapping: the two concepts are equivalent) UMLS:C0406355 E (Exact mapping: the two concepts are equivalent) A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. Orphanet ICD-10:Q78.8 ICD-11:LD24.11 MeSH:C563484 OMIM:166700 UMLS:C1833699 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166119 Isolated osteopoikilosis ORPHA:166119 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C563484 E (Exact mapping: the two concepts are equivalent) OMIM:166700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1833699 E (Exact mapping: the two concepts are equivalent) Lethal hyperkeratosis-contracture syndrome Lethal restrictive dermopathy Lethal tight skin-contracture syndrome A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. Orphanet ICD-10:Q82.8 ICD-11:EE6Y MeSH:C536920 OMIM:275210 OMIM:619793 UMLS:C0406585 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1662 Restrictive dermopathy ORPHA:1662 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536920 E (Exact mapping: the two concepts are equivalent) OMIM:275210 E (Exact mapping: the two concepts are equivalent) OMIM:619793 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0406585 E (Exact mapping: the two concepts are equivalent) 8q24.3 K2p9.1 TASK-3 TASK3 TWIK-related acid-sensitive K+ 3 ClinVar:KCNK9 Ensembl:ENSG00000169427 Genatlas:KCNK9 HGNC:6283 IUPHAR:520 OMIM:605874 Reactome:Q9NPC2 SwissProt:Q9NPC2 KCNK9 potassium two pore domain channel subfamily K member 9 Capdepont teeth DGI-2 DI-2 Dentinogenesis imperfecta, Shields type 2 Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth. Orphanet ICD-10:K00.5 ICD-11:LA30.8 OMIM:125490 OMIM:605594 UMLS:C2973527 Autosomal dominant Childhood Europe AND has_point_prevalence_average_value : 14.6 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166260 Dentinogenesis imperfecta type 2 Clinical subtype ORPHA:166260 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:125490 E (Exact mapping: the two concepts are equivalent) OMIM:605594 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2973527 E (Exact mapping: the two concepts are equivalent) Dentinogenesis imperfecta, Shields type 3 Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). Orphanet ICD-10:K00.5 ICD-11:LA30.8 MeSH:C538216 OMIM:125500 UMLS:C0399378 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166265 Dentinogenesis imperfecta type 3 Clinical subtype ORPHA:166265 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538216 E (Exact mapping: the two concepts are equivalent) OMIM:125500 E (Exact mapping: the two concepts are equivalent) UMLS:C0399378 E (Exact mapping: the two concepts are equivalent) Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome Goldblatt chondrodysplasia Goldblatt syndrome ODCD A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Orphanet ICD-10:Q78.8 MeSH:C535792 OMIM:184260 UMLS:C2745953 Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166272 Odontochondrodysplasia ORPHA:166272 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535792 E (Exact mapping: the two concepts are equivalent) OMIM:184260 E (Exact mapping: the two concepts are equivalent) UMLS:C2745953 E (Exact mapping: the two concepts are equivalent) Suarez-Stickler syndrome A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Orphanet ICD-10:Q78.8 ICD-11:LD24.KY OMIM:604922 UMLS:C4518794 Unknown Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:604922 E (Exact mapping: the two concepts are equivalent) UMLS:C4518794 E (Exact mapping: the two concepts are equivalent) A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients. Orphanet ICD-10:I49.5 ICD-11:BC65.Y MeSH:D012804 MedDRA:10040639 OMIM:163800 OMIM:182190 OMIM:608567 OMIM:614090 OMIM:619464 UMLS:C0340491 Autosomal dominant Autosomal recessive Adult Elderly Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166282 Familial sick sinus syndrome ORPHA:166282 ICD-10:I49.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D012804 E (Exact mapping: the two concepts are equivalent) MedDRA:10040639 E (Exact mapping: the two concepts are equivalent) OMIM:163800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:182190 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608567 E (Exact mapping: the two concepts are equivalent) OMIM:614090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619464 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0340491 E (Exact mapping: the two concepts are equivalent) Comedo nevus of the palm Porokeratotic eccrine nevus ICD-10:Q82.5 ICD-11:LC02 UMLS:C0473579 Infancy Neonatal Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166286 Porokeratotic eccrine ostial and dermal duct nevus ORPHA:166286 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0473579 E (Exact mapping: the two concepts are equivalent) Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus <i>Dirofilaria</i> (including <i>Dirofilaria repens</i>, <i>Dirofilaria immitis</i>), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk. Orphanet ICD-10:B74.8 ICD-11:1F66.Y MeSH:D004184 MedDRA:10080290 UMLS:C0012602 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166291 Dirofilariasis ORPHA:166291 ICD-10:B74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1F66.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004184 E (Exact mapping: the two concepts are equivalent) MedDRA:10080290 E (Exact mapping: the two concepts are equivalent) UMLS:C0012602 E (Exact mapping: the two concepts are equivalent) UMLS:C5680425 Benign non-familial infantile seizures ORPHA:166295 UMLS:C5680425 E (Exact mapping: the two concepts are equivalent) Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. Orphanet UMLS:C4749347 Benign partial epilepsy of infancy with complex partial seizures ORPHA:166299 UMLS:C4749347 E (Exact mapping: the two concepts are equivalent) Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. Orphanet UMLS:C4749728 Benign partial epilepsy with secondarily generalized seizures in infancy ORPHA:166302 UMLS:C4749728 E (Exact mapping: the two concepts are equivalent) Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. Orphanet ICD-10:G40.4 ICD-11:8A60.Y UMLS:C4707564 Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166305 Benign infantile seizures associated with mild gastroenteritis ORPHA:166305 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707564 E (Exact mapping: the two concepts are equivalent) BIMSE Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. Orphanet ICD-10:G40.0 ICD-11:8A61.10 UMLS:C4749346 Infancy Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166308 Benign infantile focal epilepsy with midline spikes and waves during sleep ORPHA:166308 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749346 E (Exact mapping: the two concepts are equivalent) UMLS:C5680426 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166311 Benign partial infantile seizures Clinical group ORPHA:166311 UMLS:C5680426 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Lethal multiple congenital anomalies/dysmorphic syndrome OBSOLETE: Embryonary disorganization syndrome ORPHA:1664 A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes. Orphanet ICD-10:G40.5 ICD-11:8A61.40 OMIM:132100 OMIM:609572 OMIM:609573 UMLS:C0393720 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166409 Photosensitive epilepsy ORPHA:166409 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:132100 E (Exact mapping: the two concepts are equivalent) OMIM:609572 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609573 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0393720 E (Exact mapping: the two concepts are equivalent) Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. Orphanet ICD-10:G40.5 ICD-11:8A61.40 OMIM:613339 OMIM:613340 UMLS:C4706506 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166412 Hot water reflex epilepsy ORPHA:166412 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613339 E (Exact mapping: the two concepts are equivalent) OMIM:613340 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706506 E (Exact mapping: the two concepts are equivalent) A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). Orphanet ICD-10:G40.5 ICD-11:8A61.40 UMLS:C0751791 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166415 Audiogenic seizures ORPHA:166415 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0751791 E (Exact mapping: the two concepts are equivalent) Eating epilepsy Eating seizures A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies. Orphanet ICD-10:G40.5 ICD-11:8A61.40 UMLS:C0393725 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166418 Eating reflex epilepsy ORPHA:166418 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0393725 E (Exact mapping: the two concepts are equivalent) Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. Orphanet ICD-10:G40.5 ICD-11:8A61.40 UMLS:C4706598 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166421 Orgasm-induced seizures ORPHA:166421 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706598 E (Exact mapping: the two concepts are equivalent) Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. Orphanet ICD-10:G40.5 ICD-11:8A61.40 UMLS:C4706523 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166424 Thinking seizures ORPHA:166424 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706523 E (Exact mapping: the two concepts are equivalent) Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability. Orphanet ICD-10:G40.5 ICD-11:8A61.40 UMLS:C4706527 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166427 Startle epilepsy ORPHA:166427 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706527 E (Exact mapping: the two concepts are equivalent) Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases. Orphanet ICD-10:G40.5 ICD-11:8A61.40 UMLS:C4706587 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166430 Micturation-induced seizures ORPHA:166430 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706587 E (Exact mapping: the two concepts are equivalent) A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures. Orphanet ICD-10:G40.5 ICD-11:8A61.40 OMIM:132300 UMLS:C0278193 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166433 Reading seizures ORPHA:166433 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:132300 E (Exact mapping: the two concepts are equivalent) UMLS:C0278193 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Encephalitis OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis ORPHA:166457 MeSH:D000073376 UMLS:C4505072 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166463 Epilepsy syndrome Category ORPHA:166463 MeSH:D000073376 E (Exact mapping: the two concepts are equivalent) UMLS:C4505072 E (Exact mapping: the two concepts are equivalent) UMLS:C5680427 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166466 Neurocutaneous syndrome with epilepsy Category ORPHA:166466 UMLS:C5680427 E (Exact mapping: the two concepts are equivalent) UMLS:C5680428 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166469 Chromosomal anomaly with epilepsy as a major feature Category ORPHA:166469 UMLS:C5680428 E (Exact mapping: the two concepts are equivalent) UMLS:C5680430 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166472 Monogenic disease with epilepsy Category ORPHA:166472 UMLS:C5680430 E (Exact mapping: the two concepts are equivalent) UMLS:C5680431 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Category ORPHA:166475 UMLS:C5680431 E (Exact mapping: the two concepts are equivalent) UMLS:C5680429 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166478 Cerebral malformation with epilepsy Category ORPHA:166478 UMLS:C5680429 E (Exact mapping: the two concepts are equivalent) UMLS:C1299598 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166481 Metabolic diseases with epilepsy Category ORPHA:166481 UMLS:C1299598 E (Exact mapping: the two concepts are equivalent) UMLS:C5680433 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166484 Inflammatory and autoimmune disease with epilepsy Category ORPHA:166484 UMLS:C5680433 E (Exact mapping: the two concepts are equivalent) UMLS:C5680434 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166487 Cerebral diseases of vascular origin with epilepsy Category ORPHA:166487 UMLS:C5680434 E (Exact mapping: the two concepts are equivalent) UMLS:C5680432 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166490 Infectious disease with epilepsy Category ORPHA:166490 UMLS:C5680432 E (Exact mapping: the two concepts are equivalent) Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. Orphanet ICD-10:Q02 UMLS:C4706553 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1665 Sporadic fetal brain disruption sequence ORPHA:1665 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706553 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases. Orphanet ICD-10:Q24.0 ICD-11:LA80.1 MeSH:D003914 MedDRA:10012592 UMLS:C0011813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1666 Dextrocardia ORPHA:1666 ICD-10:Q24.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA80.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003914 E (Exact mapping: the two concepts are equivalent) MedDRA:10012592 E (Exact mapping: the two concepts are equivalent) UMLS:C0011813 E (Exact mapping: the two concepts are equivalent) 9q34.11 MUNC18-1 UNC18 hUNC18 nSec1 rbSec1 syntaxin-binding protein 1 ClinVar:STXBP1 Ensembl:ENSG00000136854 Genatlas:STXBP1 HGNC:11444 OMIM:602926 Reactome:P61764 SwissProt:P61764 STXBP1 syntaxin binding protein 1 6q16.1 HRPAP20 HSPC125 My013 bA22L21.1 ClinVar:NDUFAF4 Ensembl:ENSG00000123545 Genatlas:NDUFAF4 HGNC:21034 OMIM:611776 Reactome:Q9P032 SwissProt:Q9P032 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 Early-onset diabetes mellitus with multiple epiphyseal dysplasia WRS Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Orphanet ICD-10:Q87.1 ICD-11:5A13.6 MeSH:C536739 OMIM:226980 UMLS:C0432217 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1667 Wolcott-Rallison syndrome ORPHA:1667 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A13.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536739 E (Exact mapping: the two concepts are equivalent) OMIM:226980 E (Exact mapping: the two concepts are equivalent) UMLS:C0432217 E (Exact mapping: the two concepts are equivalent) 3q25.32 EFGM EGF1 GFM mtEF-G1 ClinVar:GFM1 Ensembl:ENSG00000168827 Genatlas:GFM1 HGNC:13780 OMIM:606639 Reactome:Q96RP9 SwissProt:Q96RP9 GFM1 G elongation factor mitochondrial 1 12q13.2 ClinVar:ITGA7 Ensembl:ENSG00000135424 Genatlas:ITGA7 HGNC:6143 IUPHAR:2446 OMIM:600536 Reactome:Q13683 SwissProt:Q13683 ITGA7 integrin subunit alpha 7 4q24 ERIS Miner1 NAF-1 endoplasmic reticulum intermembrane small protein mitoNEET related 1 nutrient-deprivation autophagy factor-1 ClinVar:CISD2 Ensembl:ENSG00000145354 Genatlas:CISD2 HGNC:24212 OMIM:611507 Reactome:Q8N5K1 SwissProt:Q8N5K1 CISD2 CDGSH iron sulfur domain 2 8q22.1 QCR7 QP-C UQCR6 cytochrome b-c1 complex subunit 7 ubiquinol-cytochrome c reductase, complex III subunit VI ClinVar:UQCRB Ensembl:ENSG00000156467 Genatlas:UQCRB HGNC:12582 OMIM:191330 Reactome:P14927 SwissProt:P14927 UQCRB ubiquinol-cytochrome c reductase binding protein 1p13.2 thyrotropin subunit beta ClinVar:TSHB Ensembl:ENSG00000134200 Genatlas:TSHB HGNC:12372 OMIM:188540 Reactome:P01222 SwissProt:P01222 TSHB thyroid stimulating hormone subunit beta mitochondria trnH ClinVar:TRNH Ensembl:ENSG00000210176 Genatlas:TRNH HGNC:7487 OMIM:590040 MT-TH mitochondrially encoded tRNA-His (CAU/C) Rare bleeding disorder due to an acquired coagulation factor defect Rare coagulopathy due to an acquired coagulation factor defect UMLS:C5679584 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect Category ORPHA:166775 UMLS:C5679584 E (Exact mapping: the two concepts are equivalent) 11q13.1 OAT4L RST UAT URAT1 hURAT1 renal-specific transporter urate anion transporter 1 ClinVar:SLC22A12 Ensembl:ENSG00000197891 Genatlas:SLC22A12 HGNC:17989 IUPHAR:1031 OMIM:607096 Reactome:Q96S37 SwissProt:Q96S37 SLC22A12 solute carrier family 22 member 12 16p12.2 CT108 cancer/testis antigen 108 ClinVar:OTOA Ensembl:ENSG00000155719 Genatlas:OTOA HGNC:16378 OMIM:607038 Reactome:Q7RTW8 SwissProt:Q7RTW8 OTOA otoancorin 12q13.3 Brush border myosin I Unconventional myosin-Ia ClinVar:MYO1A Ensembl:ENSG00000166866 Genatlas:MYO1A HGNC:7595 OMIM:601478 SwissProt:Q9UBC5 MYO1A myosin IA 2q31.2 ClinVar:DFNB59 Ensembl:ENSG00000204311 Genatlas:DFNB59 HGNC:29502 OMIM:610219 SwissProt:Q0ZLH3 PJVK pejvakin 16p12.2 DFNA40 mu-crystallin thiomorpholine-carboxylate dehydrogenase ClinVar:CRYM Ensembl:ENSG00000103316 Genatlas:CRYM HGNC:2418 OMIM:123740 Reactome:Q14894 SwissProt:Q14894 CRYM crystallin mu 21q22.13 ClinVar:CLDN14 Ensembl:ENSG00000159261 Genatlas:CLDN14 HGNC:2035 OMIM:605608 Reactome:O95500 SwissProt:O95500 CLDN14 claudin 14 17q25.3 ClinVar:ACTG1 Ensembl:ENSG00000184009 Genatlas:ACTG1 HGNC:144 OMIM:102560 Reactome:P63261 SwissProt:P63261 ACTG1 actin gamma 1 19p13.11 ClinVar:GDF1 Ensembl:ENSG00000130283 Genatlas:GDF1 HGNC:4214 OMIM:602880 Reactome:P27539 SwissProt:P27539 GDF1 growth differentiation factor 1 Chédiak-Higashi disease Chédiak-Higashi-Steinbrink syndrome Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described. Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:D002609 MedDRA:10008415 OMIM:214500 UMLS:C0007965 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=167 Chédiak-Higashi syndrome ORPHA:167 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D002609 E (Exact mapping: the two concepts are equivalent) MedDRA:10008415 E (Exact mapping: the two concepts are equivalent) OMIM:214500 E (Exact mapping: the two concepts are equivalent) UMLS:C0007965 E (Exact mapping: the two concepts are equivalent) Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:K63.8 ICD-11:DA90.Y MeSH:C564019 OMIM:520100 UMLS:C1838912 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1670 Chronic diarrhea with villous atrophy ORPHA:1670 ICD-10:K63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564019 E (Exact mapping: the two concepts are equivalent) OMIM:520100 E (Exact mapping: the two concepts are equivalent) UMLS:C1838912 E (Exact mapping: the two concepts are equivalent) Diastematomyelia SCM type 1 SCM type I Split cord malformation type 1 A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with a intervening bony septum. Orphanet ICD-10:Q06.2 ICD-11:LA07.1 MedDRA:10012750 OMIM:222500 UMLS:C5679611 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1671 Split cord malformation type I ORPHA:1671 ICD-10:Q06.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA07.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10012750 E (Exact mapping: the two concepts are equivalent) OMIM:222500 E (Exact mapping: the two concepts are equivalent) UMLS:C5679611 E (Exact mapping: the two concepts are equivalent) Diencephalic cachexia Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Russell diencephalic cachexia Russell syndrome Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors. Orphanet ICD-10:C72.8 ICD-11:5A61.Y MedDRA:10087520 UMLS:C0342436 Not applicable Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1672 Diencephalic syndrome ORPHA:1672 ICD-10:C72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087520 E (Exact mapping: the two concepts are equivalent) UMLS:C0342436 E (Exact mapping: the two concepts are equivalent) DRC syndrome Eronen-Somer-Gustafsson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to DOORS syndrome Digitorenocerebral syndrome ORPHA:1674 Familial pyrimidinemia A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil. Orphanet ICD-10:E79.8 ICD-11:5C55.1 MeSH:D054067 MedDRA:10052622 OMIM:274270 UMLS:C1959620 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1675 Dihydropyrimidine dehydrogenase deficiency ORPHA:1675 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054067 E (Exact mapping: the two concepts are equivalent) MedDRA:10052622 E (Exact mapping: the two concepts are equivalent) OMIM:274270 E (Exact mapping: the two concepts are equivalent) UMLS:C1959620 E (Exact mapping: the two concepts are equivalent) Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases. Orphanet ICD-10:I28.8 ICD-11:LA8B.1 UMLS:C1384816 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1676 Idiopathic pulmonary artery dilatation ORPHA:1676 ICD-10:I28.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8B.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1384816 E (Exact mapping: the two concepts are equivalent) Arndt-Gottron disease Generalized lichenoid papular eruption Generalized papular and sclerodermoid lichen myxedematosus A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common. Orphanet ICD-10:L98.5 ICD-11:EB90.11 MeSH:D053718 MedDRA:10055046 UMLS:C0263390 Adult Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=167635 Scleromyxedema ORPHA:167635 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EB90.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053718 E (Exact mapping: the two concepts are equivalent) MedDRA:10055046 E (Exact mapping: the two concepts are equivalent) UMLS:C0263390 E (Exact mapping: the two concepts are equivalent) A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. Orphanet ICD-10:Q20.8 ICD-11:LA8F UMLS:C4274283 Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1677 Familial idiopathic dilatation of the right atrium ORPHA:1677 ICD-10:Q20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8F - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274283 E (Exact mapping: the two concepts are equivalent) Unclassified AML OMIM:601626 UMLS:C5679583 Europe AND has_annual_incidence_average_value : 0.49 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=167714 Unclassified acute myeloid leukemia Category ORPHA:167714 OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679583 E (Exact mapping: the two concepts are equivalent) 19q13.33 ACID1 ARC92 DKFZp434K0512 TCBAP0758 ClinVar:MED25 Ensembl:ENSG00000104973 Genatlas:MED25 HGNC:28845 OMIM:610197 Reactome:Q71SY5 SwissProt:Q71SY5 MED25 mediator complex subunit 25 The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. Orphanet UMLS:C5680465 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=167759 Hereditary dentin defect Category ORPHA:167759 UMLS:C5680465 E (Exact mapping: the two concepts are equivalent) UMLS:C5680464 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=167762 Rare disease with dentinogenesis imperfecta Category ORPHA:167762 UMLS:C5680464 E (Exact mapping: the two concepts are equivalent) Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum OMIM:601016 UMLS:C1832874 Dincsoy-Salih-Patel syndrome ORPHA:1678 OMIM:601016 E (Exact mapping: the two concepts are equivalent) UMLS:C1832874 E (Exact mapping: the two concepts are equivalent) MeSH:D009202 MedDRA:10007636 UMLS:C5680467 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=167848 Rare cardiomyopathy Category ORPHA:167848 MeSH:D009202 E (Exact mapping: the two concepts are equivalent) MedDRA:10007636 E (Exact mapping: the two concepts are equivalent) UMLS:C5680467 E (Exact mapping: the two concepts are equivalent) 14q12 BF1 HBF-3 HFK1 HFK2 HFK3 QIN brain factor 1 ClinVar:FOXG1 Ensembl:ENSG00000176165 Genatlas:FOXG1 HGNC:3811 OMIM:164874 SwissProt:P55316 FOXG1 forkhead box G1 Xq26.2 K-glypican glypican proteoglycan 4 ClinVar:GPC4 Ensembl:ENSG00000076716 Genatlas:GPC4 HGNC:4452 OMIM:300168 Reactome:O75487 SwissProt:O75487 GPC4 glypican 4 4q35.1 CD283 ClinVar:TLR3 Ensembl:ENSG00000164342 Genatlas:TLR3 HGNC:11849 IUPHAR:1753 OMIM:603029 Reactome:O15455 SwissProt:O15455 TLR3 toll like receptor 3 7p13 PGAM-M ClinVar:PGAM2 Ensembl:ENSG00000164708 Genatlas:PGAM2 HGNC:8889 OMIM:612931 Reactome:P15259 SwissProt:P15259 PGAM2 phosphoglycerate mutase 2 Yq11.221 ClinVar:DDX3Y Ensembl:ENSG00000067048 Genatlas:DDX3Y HGNC:2699 OMIM:400010 SwissProt:O15523 DDX3Y DEAD-box helicase 3 Y-linked 2q37.3 KIAA0347 ClinVar:PER2 Ensembl:ENSG00000132326 Genatlas:PER2 HGNC:8846 OMIM:603426 Reactome:O15055 SwissProt:O15055 PER2 period circadian regulator 2 1p36.31 ARHGEF45 GEF720 KIAA0720 Syx Tech synectin-binding guanine exchange factor ClinVar:PLEKHG5 Ensembl:ENSG00000171680 Genatlas:PLEKHG5 HGNC:29105 OMIM:611101 Reactome:O94827 SwissProt:O94827 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 19q13.12 COXG ClinVar:COX6B1 Ensembl:ENSG00000126267 Genatlas:COX6B1 HGNC:2280 OMIM:124089 Reactome:P14854 SwissProt:P14854 COX6B1 cytochrome c oxidase subunit 6B1 20q13.32 SYN-16 SYN16 hsyn16 ClinVar:STX16 Ensembl:ENSG00000124222 Genatlas:STX16 HGNC:11431 OMIM:603666 Reactome:O14662 SwissProt:O14662 STX16 syntaxin 16 A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of <i>Corynebacterium diphtheriae</i>. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course. Orphanet ICD-10:A36.0 ICD-10:A36.1 ICD-10:A36.2 ICD-10:A36.3 ICD-10:A36.8 ICD-10:A36.9 ICD-11:1C17 ICD-11:1C17.0 ICD-11:1C17.1 ICD-11:1C17.2 ICD-11:1C17.3 ICD-11:1C17.Y MeSH:D004165 MedDRA:10013023 UMLS:C0012546 All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1679 Diphtheria ORPHA:1679 ICD-10:A36.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A36.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A36.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A36.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A36.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C17 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C17.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C17.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C17.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C17.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C17.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004165 E (Exact mapping: the two concepts are equivalent) MedDRA:10013023 E (Exact mapping: the two concepts are equivalent) UMLS:C0012546 E (Exact mapping: the two concepts are equivalent) mitochondria TRNS1 ClinVar:MT-TS1 Ensembl:ENSG00000210151 Genatlas:MT-TS1 HGNC:7497 OMIM:590080 MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 mitochondria RP8 TRNS2 ClinVar:MT-TS2 Ensembl:ENSG00000210184 Genatlas:MT-TS2 HGNC:7498 OMIM:590085 MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 mitochondria trnF ClinVar:MT-TF Ensembl:ENSG00000210049 Genatlas:MT-TF HGNC:7481 OMIM:590070 MT-TF mitochondrially encoded tRNA-Phe (UUU/C) Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. Orphanet ICD-10:L65.1 ICD-11:EC21.0 MeSH:D058247 MedDRA:10085066 OMIM:600628 UMLS:C0406468 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168 Loose anagen syndrome ORPHA:168 ICD-10:L65.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058247 E (Exact mapping: the two concepts are equivalent) MedDRA:10085066 E (Exact mapping: the two concepts are equivalent) OMIM:600628 E (Exact mapping: the two concepts are equivalent) UMLS:C0406468 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Little syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare movement disorder OBSOLETE: Spastic diplegia, infantile type ORPHA:1680 3q26.33 Pam18 TIMM14 Tim14 mitochondrial import inner membrane translocase subunit TIM14 ClinVar:DNAJC19 Ensembl:ENSG00000205981 Genatlas:DNAJC19 HGNC:30528 OMIM:608977 Reactome:Q96DA6 SwissProt:Q96DA6 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 17q21.31 CLN11 PCDGF PGRN progranulin ClinVar:GRN Ensembl:ENSG00000030582 Genatlas:GRN HGNC:4601 OMIM:138945 Reactome:P28799 SwissProt:P28799 GRN granulin precursor 4q34.1 15-hydroxyprostaglandin dehydrogenase (NAD(+)) SDR36C1 short chain dehydrogenase/reductase family 36C, member 1 ClinVar:HPGD Ensembl:ENSG00000164120 Genatlas:HPGD HGNC:5154 IUPHAR:1384 OMIM:601688 Reactome:P15428 SwissProt:P15428 HPGD 15-hydroxyprostaglandin dehydrogenase 1p31.3 KIAA0260 UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter UGTREL7 ClinVar:SLC35D1 Ensembl:ENSG00000116704 Genatlas:SLC35D1 HGNC:20800 IUPHAR:1149 OMIM:610804 Reactome:Q9NTN3 SwissProt:Q9NTN3 SLC35D1 solute carrier family 35 member D1 1q25.3 glutamine synthetase ClinVar:GLUL Ensembl:ENSG00000135821 Genatlas:GLUL HGNC:4341 OMIM:138290 Reactome:P15104 SwissProt:P15104 GLUL glutamate-ammonia ligase 12p13.32 HK2 HPCN1 Kv1.5 ClinVar:KCNA5 Ensembl:ENSG00000130037 Genatlas:KCNA5 HGNC:6224 IUPHAR:542 OMIM:176267 Reactome:P22460 SwissProt:P22460 KCNA5 potassium voltage-gated channel subfamily A member 5 18q21.32 ClinVar:MC4R Ensembl:ENSG00000166603 Genatlas:MC4R HGNC:6932 IUPHAR:285 OMIM:155541 Reactome:P32245 SwissProt:P32245 MC4R melanocortin 4 receptor 12q23.3 ISU2 IscU hnifU ClinVar:ISCU Ensembl:ENSG00000136003 Genatlas:ISCU HGNC:29882 OMIM:611911 Reactome:Q9H1K1 SwissProt:Q9H1K1 ISCU iron-sulfur cluster assembly enzyme 2q22.2 L-kynurenine hydrolase ClinVar:KYNU Ensembl:ENSG00000115919 Genatlas:KYNU HGNC:6469 OMIM:605197 Reactome:Q16719 SwissProt:Q16719 KYNU kynureninase Craniofacial duplication Diprosopia Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases. Orphanet ICD-10:Q89.4 UMLS:C0266731 No data available Antenatal Argentina AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1681 Diprosopus ORPHA:1681 ICD-10:Q89.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0266731 E (Exact mapping: the two concepts are equivalent) 8q22.3 p53R2 ClinVar:RRM2B Ensembl:ENSG00000048392 Genatlas:RRM2B HGNC:17296 IUPHAR:2754 OMIM:604712 Reactome:Q7LG56 SwissProt:Q7LG56 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B 1p13.2 MCT MCT1 Monocarboxylate transporter 1 ClinVar:SLC16A1 Ensembl:ENSG00000155380 Genatlas:SLC16A1 HGNC:10922 IUPHAR:988 OMIM:600682 Reactome:P53985 SwissProt:P53985 SLC16A1 solute carrier family 16 member 1 Xp11.4 A15 CD231 DXS1692E TALLA-1 ClinVar:TSPAN7 Ensembl:ENSG00000156298 Genatlas:TSPAN7 HGNC:11854 OMIM:300096 Reactome:P41732 SwissProt:P41732 TSPAN7 tetraspanin 7 1q42.12 LEFTA LEFTYA transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A) ClinVar:LEFTY2 Ensembl:ENSG00000143768 Genatlas:LEFTY2 HGNC:3122 OMIM:601877 Reactome:O00292 SwissProt:O00292 LEFTY2 left-right determination factor 2 1q24.2 HCA2 Hypercalciuria, absorptive, 2 RP1-313L4.2 SAC SACI Sacy soluble adenylyl cyclase ClinVar:ADCY10 Ensembl:ENSG00000143199 Genatlas:ADCY10 HGNC:21285 IUPHAR:3068 OMIM:605205 Reactome:Q96PN6 SwissProt:Q96PN6 ADCY10 adenylate cyclase 10 15q21.1 ClinVar:DUOXA2 Ensembl:ENSG00000140274 Genatlas:DUOXA2 HGNC:32698 OMIM:612772 SwissProt:Q1HG44 DUOXA2 dual oxidase maturation factor 2 UMLS:C5680461 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168194 Rare cardiac tumor Category ORPHA:168194 UMLS:C5680461 E (Exact mapping: the two concepts are equivalent) A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). Orphanet ICD-10:Q87.8 ICD-11:BD50.Z OMIM:600459 UMLS:C4304024 Unknown Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1682 Arterial dissection-lentiginosis syndrome ORPHA:1682 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD50.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600459 E (Exact mapping: the two concepts are equivalent) UMLS:C4304024 E (Exact mapping: the two concepts are equivalent) 17q25.1 SEN54 SEN54L ClinVar:TSEN54 Ensembl:ENSG00000182173 Genatlas:TSEN54 HGNC:27561 OMIM:608755 Reactome:Q7Z6J9 SwissProt:Q7Z6J9 TSEN54 tRNA splicing endonuclease subunit 54 2q33.3 ClinVar:FASTKD2 Ensembl:ENSG00000118246 Genatlas:FASTKD2 HGNC:29160 OMIM:612322 SwissProt:Q9NYY8 FASTKD2 FAST kinase domains 2 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lymphedema-distichiasis syndrome OMIM:126320 UMLS:C1852062 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome ORPHA:1683 OMIM:126320 E (Exact mapping: the two concepts are equivalent) UMLS:C1852062 E (Exact mapping: the two concepts are equivalent) 16p13.3 Gli-similar 2 NPHP7 nephrocystin-7 ClinVar:GLIS2 Ensembl:ENSG00000126603 Genatlas:GLIS2 HGNC:29450 OMIM:608539 Reactome:Q9BZE0 SwissProt:Q9BZE0 GLIS2 GLIS family zinc finger 2 9q33.3 AD4BP ELP FTZ1 SF-1 SF1 hSF-1 steroidogenic factor 1 ClinVar:NR5A1 Ensembl:ENSG00000136931 Genatlas:NR5A1 HGNC:7983 IUPHAR:632 OMIM:184757 Reactome:Q13285 SwissProt:Q13285 NR5A1 nuclear receptor subfamily 5 group A member 1 8q24.3 JH8 jerky ClinVar:JRK Ensembl:ENSG00000234616 Genatlas:JRK HGNC:6199 OMIM:603210 Reactome:O75564 SwissProt:O75564 JRK Jrk helix-turn-helix protein Xq26.3 Cool-2 Cool2 KIAA0006 PAK-interacting exchange factor, alpha Rac/Cdc42 guanine exchange factor (GEF) 6 aPix alpha-PIX alphaPIX rho guanine nucleotide exchange factor 6 ClinVar:ARHGEF6 Ensembl:ENSG00000129675 Genatlas:ARHGEF6 HGNC:685 OMIM:300267 Reactome:Q15052 SwissProt:Q15052 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 Xp11.23 HFZ20 ClinVar:ZNF81 Ensembl:ENSG00000197779 Genatlas:ZNF81 HGNC:13156 OMIM:314998 SwissProt:P51508 ZNF81 zinc finger protein 81 Xq22.1 EIEE9 KIAA1313 ClinVar:PCDH19 Ensembl:ENSG00000165194 Genatlas:PCDH19 HGNC:14270 OMIM:300460 SwissProt:Q8TAB3 PCDH19 protocadherin 19 5q33.1 40S ribosomal protein S14 EMTB S14 emetine resistance uS11 ClinVar:RPS14 Ensembl:ENSG00000164587 Genatlas:RPS14 HGNC:10387 OMIM:130620 Reactome:P62263 SwissProt:P62263 RPS14 ribosomal protein S14 11p15.5 ClinVar:INS Ensembl:ENSG00000254647 Genatlas:INS HGNC:6081 OMIM:176730 Reactome:P01308 SwissProt:P01308 INS insulin 8q24.22 AITD3 TGN ClinVar:TG Ensembl:ENSG00000042832 Genatlas:TG HGNC:11764 OMIM:188450 SwissProt:P01266 TG thyroglobulin Yq11.223 YRRM1 YRRM2 ClinVar:RBMY1A1 Ensembl:ENSG00000234414 Genatlas:RBMY1A1 HGNC:9912 OMIM:400006 Reactome:P0DJD3 SwissProt:P0DJD3 RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 4q32.1 LCA14 phosphatidylcholine--retinol O-acyltransferase ClinVar:LRAT Ensembl:ENSG00000121207 Genatlas:LRAT HGNC:6685 OMIM:604863 Reactome:O95237 SwissProt:O95237 LRAT lecithin retinol acyltransferase 9p24.3 CT154 DM domain expressed in testis 1 DMT1 ClinVar:DMRT1 Ensembl:ENSG00000137090 Genatlas:DMRT1 HGNC:2934 OMIM:602424 SwissProt:Q9Y5R6 DMRT1 doublesex and mab-3 related transcription factor 1 22q13.1 SSV becaplermin oncogene SIS ClinVar:PDGFB Ensembl:ENSG00000100311 Genatlas:PDGFB HGNC:8800 OMIM:190040 Reactome:P01127 SwissProt:P01127 PDGFB platelet derived growth factor subunit B 17q25.3 ASPL ASPS TUG Tether containing UBX domain for GLUT4 UBX domain protein 9 UBXD9 UBXN9 ClinVar:ASPSCR1 Ensembl:ENSG00000169696 Genatlas:ASPSCR1 HGNC:13825 OMIM:606236 Reactome:Q9BZE9 SwissProt:Q9BZE9 ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing 9q34.13 CAIN CAN CAN protein, putative oncogene D9S46E N214 nuclear pore complex protein Nup214 ClinVar:NUP214 Ensembl:ENSG00000126883 Genatlas:NUP214 HGNC:8064 OMIM:114350 Reactome:P35658 SwissProt:P35658 NUP214 nucleoporin 214 6p22.3 D6S231E ClinVar:DEK Ensembl:ENSG00000124795 Genatlas:DEK HGNC:2768 OMIM:125264 Reactome:P35659 SwissProt:P35659 DEK DEK proto-oncogene Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535783 OMIM:183849 UMLS:C1866728 Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome ORPHA:168443 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535783 E (Exact mapping: the two concepts are equivalent) OMIM:183849 E (Exact mapping: the two concepts are equivalent) UMLS:C1866728 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Spondyloepimetaphyseal dysplasia, Bieganski type ORPHA:168448 SEMDAD Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:601668 UMLS:C4750771 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome ORPHA:168451 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601668 E (Exact mapping: the two concepts are equivalent) UMLS:C4750771 E (Exact mapping: the two concepts are equivalent) SEMD, Geneviève type SEMDG Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535785 OMIM:610442 UMLS:C1864872 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168454 Spondyloepimetaphyseal dysplasia, Geneviève type ORPHA:168454 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535785 E (Exact mapping: the two concepts are equivalent) OMIM:610442 E (Exact mapping: the two concepts are equivalent) UMLS:C1864872 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Congenital NCL This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis OBSOLETE: Congenital neuronal ceroid lipofuscinosis ORPHA:168486 OBSOLETE: Jansky-Bielschowsky disease OBSOLETE: LINCL OBSOLETE: Late infantile NCL This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis OBSOLETE: Late infantile neuronal ceroid lipofuscinosis ORPHA:168491 Distomiasis Fluke infection A group of rare parasitic diseases characterized by infection with flukes with oral and ventral suckers, comprising Clonorchiasis (infection with liver flukes), Fasciolopsiasis (infection with intestinal flukes), and Paragonimiasis (infection with lung flukes). Signs and symptoms depend on the affected organ and are of variable severity. Some patients may be asymptomatic. Orphanet ICD-10:B66.0 ICD-10:B66.1 ICD-10:B66.2 ICD-10:B66.3 ICD-10:B66.4 ICD-10:B66.5 ICD-10:B66.8 ICD-11:1F80 ICD-11:1F83 ICD-11:1F85 UMLS:C0040820 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1685 Distomatosis Clinical group ORPHA:1685 ICD-10:B66.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:B66.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:B66.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:B66.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:B66.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:B66.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:B66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1F80 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F83 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F85 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0040820 E (Exact mapping: the two concepts are equivalent) X-linked spondylometaphyseal dysplasia Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. Orphanet ICD-10:Q77.8 ICD-11:LD24.4 OMIM:313420 UMLS:C0796172 X-linked recessive No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168544 Spondylometaphyseal dysplasia, Golden type ORPHA:168544 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:313420 E (Exact mapping: the two concepts are equivalent) UMLS:C0796172 E (Exact mapping: the two concepts are equivalent) Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. Orphanet ICD-10:Q77.8 ICD-11:LD24.4 MeSH:C535795 OMIM:602271 UMLS:C1865695 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168549 Axial spondylometaphyseal dysplasia ORPHA:168549 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535795 E (Exact mapping: the two concepts are equivalent) OMIM:602271 E (Exact mapping: the two concepts are equivalent) UMLS:C1865695 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. Orphanet ICD-10:Q77.8 ICD-11:LD24.4 MeSH:C535791 OMIM:607543 UMLS:C5190708 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome ORPHA:168552 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535791 E (Exact mapping: the two concepts are equivalent) OMIM:607543 E (Exact mapping: the two concepts are equivalent) UMLS:C5190708 E (Exact mapping: the two concepts are equivalent) Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. Orphanet ICD-10:Q77.8 ICD-11:LD24.4 MeSH:C563803 OMIM:609052 UMLS:C1836862 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168555 Spondylometaphyseal dysplasia, A4 type ORPHA:168555 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563803 E (Exact mapping: the two concepts are equivalent) OMIM:609052 E (Exact mapping: the two concepts are equivalent) UMLS:C1836862 E (Exact mapping: the two concepts are equivalent) 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency XY sex reversal-adrenal failure A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. Orphanet ICD-10:Q56.1 OMIM:613743 UMLS:C5190811 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558 ICD-10:Q56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613743 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190811 E (Exact mapping: the two concepts are equivalent) 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. Orphanet ICD-10:Q56.1 ICD-11:LD2A.1 OMIM:607080 UMLS:C5190810 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563 ICD-10:Q56.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607080 E (Exact mapping: the two concepts are equivalent) UMLS:C5190810 E (Exact mapping: the two concepts are equivalent) Fatal mitochondrial disease due to COXPD3 Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:610505 UMLS:C5679582 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ORPHA:168566 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610505 E (Exact mapping: the two concepts are equivalent) UMLS:C5679582 E (Exact mapping: the two concepts are equivalent) A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. Orphanet ICD-10:D76.3 ICD-11:LD27.Y OMIM:602782 UMLS:C1864445 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168569 H syndrome ORPHA:168569 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:602782 E (Exact mapping: the two concepts are equivalent) UMLS:C1864445 E (Exact mapping: the two concepts are equivalent) Congenital myopathy-cleft palate-malignant hyperthermia syndrome Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Orphanet ICD-10:G71.2 ICD-11:8C72.Y MeSH:C538343 OMIM:255995 UMLS:C1850625 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168572 Native American myopathy ORPHA:168572 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538343 E (Exact mapping: the two concepts are equivalent) OMIM:255995 E (Exact mapping: the two concepts are equivalent) UMLS:C1850625 E (Exact mapping: the two concepts are equivalent) CHC type 2 Hereditary cryohydrocytosis type 2 Stomatin-deficient cryohydrocytosis sdCHC A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. Orphanet ICD-10:D58.8 ICD-11:3A10.Y OMIM:608885 UMLS:C5190707 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168577 Hereditary cryohydrocytosis with reduced stomatin ORPHA:168577 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608885 E (Exact mapping: the two concepts are equivalent) UMLS:C5190707 E (Exact mapping: the two concepts are equivalent) Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. Orphanet ICD-10:K74.6 ICD-11:DB93.20 MeSH:C565737 OMIM:604901 UMLS:C1858051 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168583 Hereditary North American Indian childhood cirrhosis Clinical subtype ORPHA:168583 ICD-10:K74.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB93.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C565737 E (Exact mapping: the two concepts are equivalent) OMIM:604901 E (Exact mapping: the two concepts are equivalent) UMLS:C1858051 E (Exact mapping: the two concepts are equivalent) 11-beta-hydroxysteroid dehydrogenase deficiency type 1 A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. Orphanet ICD-10:E25.8 ICD-11:5A71.Y OMIM:604931 OMIM:614662 UMLS:C4329210 Autosomal dominant Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168588 Hyperandrogenism due to cortisone reductase deficiency ORPHA:168588 ICD-10:E25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:604931 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614662 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4329210 E (Exact mapping: the two concepts are equivalent) SIDDT Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. Orphanet ICD-10:G90.8 ICD-11:MH11.Z MeSH:C563856 OMIM:608800 UMLS:C1837371 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168593 Sudden infant death-dysgenesis of the testes syndrome ORPHA:168593 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MH11.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563856 E (Exact mapping: the two concepts are equivalent) OMIM:608800 E (Exact mapping: the two concepts are equivalent) UMLS:C1837371 E (Exact mapping: the two concepts are equivalent) MAT I/III deficiency Mudd's disease A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients. Orphanet ICD-10:E72.1 ICD-11:5C50.B OMIM:250850 UMLS:C0268621 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168598 Methionine adenosyltransferase I/III deficiency ORPHA:168598 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:250850 E (Exact mapping: the two concepts are equivalent) UMLS:C0268621 E (Exact mapping: the two concepts are equivalent) Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. Orphanet ICD-10:Q24.8 ICD-11:LA88.Y UMLS:C0546315 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1686 Cardiac diverticulum ORPHA:1686 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0546315 E (Exact mapping: the two concepts are equivalent) Congenital enterokinase deficiency Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. Orphanet ICD-10:K90.8 ICD-11:DA90.Y MeSH:C562649 OMIM:226200 UMLS:C0268416 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168601 Congenital enteropathy due to enteropeptidase deficiency ORPHA:168601 ICD-10:K90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562649 E (Exact mapping: the two concepts are equivalent) OMIM:226200 E (Exact mapping: the two concepts are equivalent) UMLS:C0268416 E (Exact mapping: the two concepts are equivalent) A rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms. Orphanet ICD-10:L21.8 MeSH:C565217 OMIM:610227 UMLS:C1853258 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 44.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168606 Seborrhea-like dermatitis with psoriasiform elements ORPHA:168606 ICD-10:L21.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565217 E (Exact mapping: the two concepts are equivalent) OMIM:610227 E (Exact mapping: the two concepts are equivalent) UMLS:C1853258 E (Exact mapping: the two concepts are equivalent) Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rare mitochondrial non-syndromic sensorineural deafness Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure ORPHA:168609 Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. Orphanet ICD-10:R77.2 OMIM:615969 UMLS:C4274336 Antenatal Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168612 Congenital deficiency in alpha-fetoprotein ORPHA:168612 ICD-10:R77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615969 E (Exact mapping: the two concepts are equivalent) UMLS:C4274336 E (Exact mapping: the two concepts are equivalent) Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy Orphanet ICD-10:R77.2 OMIM:615970 UMLS:C1863080 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 19.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168615 Hereditary persistence of alpha-fetoprotein ORPHA:168615 ICD-10:R77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615970 E (Exact mapping: the two concepts are equivalent) UMLS:C1863080 E (Exact mapping: the two concepts are equivalent) DECF Dysplasia epiphysealis capitis femoris Meyer dysplasia Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Orphanet ICD-10:Q78.8 ICD-11:LD24.6Y UMLS:C4274970 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168621 Dysplasia of head of femur, Meyer type ORPHA:168621 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274970 E (Exact mapping: the two concepts are equivalent) Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. Orphanet ICD-10:Q87.0 ICD-11:LD24.GY OMIM:609579 UMLS:C4510730 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168624 Familial scaphocephaly syndrome, McGillivray type ORPHA:168624 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609579 E (Exact mapping: the two concepts are equivalent) UMLS:C4510730 E (Exact mapping: the two concepts are equivalent) ICD-10:D69.4 OMIM:188000 OMIM:273900 OMIM:612004 OMIM:616216 UMLS:C5680462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168629 Autosomal thrombocytopenia with normal platelets Etiological subtype ORPHA:168629 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:188000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:273900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612004 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616216 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680462 E (Exact mapping: the two concepts are equivalent) Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. Orphanet ICD-10:Q82.5 OMIM:605827 UMLS:C4707879 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168632 Generalized basaloid follicular hamartoma syndrome ORPHA:168632 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605827 E (Exact mapping: the two concepts are equivalent) UMLS:C4707879 E (Exact mapping: the two concepts are equivalent) Rare ASD Rare PDD Rare autism spectrum disorder MeSH:D002659 MedDRA:10061345 UMLS:C5679581 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168778 Rare pervasive developmental disorder Category ORPHA:168778 MeSH:D002659 E (Exact mapping: the two concepts are equivalent) MedDRA:10061345 E (Exact mapping: the two concepts are equivalent) UMLS:C5679581 E (Exact mapping: the two concepts are equivalent) Dementia infantilis Heller syndrome Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia. Orphanet ICD-10:F84.3 ICD-11:6A02.3 MedDRA:10008522 UMLS:C0236791 Not applicable Childhood Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168782 Childhood disintegrative disorder ORPHA:168782 ICD-10:F84.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:6A02.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10008522 E (Exact mapping: the two concepts are equivalent) UMLS:C0236791 E (Exact mapping: the two concepts are equivalent) Atriodigital dysplasia, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C535852 OMIM:610140 UMLS:C1857829 Autosomal dominant Adult Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168796 Heart-hand syndrome, Slovenian type ORPHA:168796 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535852 E (Exact mapping: the two concepts are equivalent) OMIM:610140 E (Exact mapping: the two concepts are equivalent) UMLS:C1857829 E (Exact mapping: the two concepts are equivalent) UMLS:C5680455 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168803 Primary peritoneal tumor Category ORPHA:168803 UMLS:C5680455 E (Exact mapping: the two concepts are equivalent) UMLS:C5680454 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168807 Primary malignant peritoneal tumor Category ORPHA:168807 UMLS:C5680454 E (Exact mapping: the two concepts are equivalent) Diffuse malignant peritoneal mesothelioma Primary malignant peritoneal mesothelioma Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity. Orphanet ICD-10:C45.1 ICD-11:2C51.2 MedDRA:10056558 UMLS:C0346109 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168811 Malignant peritoneal mesothelioma ORPHA:168811 ICD-10:C45.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10056558 E (Exact mapping: the two concepts are equivalent) UMLS:C0346109 E (Exact mapping: the two concepts are equivalent) Benign multicystic peritoneal mesothelioma Multicystic mesothelioma Multilocular peritoneal inclusion cyst Peritoneal cyctic mesothelioma Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses. Orphanet ICD-10:C45.1 UMLS:C1334818 Unknown Adult Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168816 Peritoneal inclusion cyst ORPHA:168816 ICD-10:C45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1334818 E (Exact mapping: the two concepts are equivalent) EOPPC Extra-ovarian primary peritoneal carcinoma PPC Primary peritoneal serous carcinoma Serous surface papillary carcinoma Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term). Orphanet ICD-10:C48.2 UMLS:C0334361 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168829 Primary peritoneal carcinoma ORPHA:168829 ICD-10:C48.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0334361 E (Exact mapping: the two concepts are equivalent) A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common. Orphanet ICD-10:D47.5 ICD-11:2A20.3 MedDRA:10065854 UMLS:C0346421 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168940 Chronic eosinophilic leukemia ORPHA:168940 ICD-10:D47.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A20.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10065854 E (Exact mapping: the two concepts are equivalent) UMLS:C0346421 E (Exact mapping: the two concepts are equivalent) UMLS:C5680457 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Category ORPHA:168943 UMLS:C5680457 E (Exact mapping: the two concepts are equivalent) A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. Orphanet ICD-10:D47.1 ICD-11:2A50 UMLS:C4545381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement ORPHA:168947 ICD-10:D47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4545381 E (Exact mapping: the two concepts are equivalent) A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. Orphanet ICD-10:D47.1 ICD-11:2A51 UMLS:C3472621 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement ORPHA:168950 ICD-10:D47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3472621 E (Exact mapping: the two concepts are equivalent) 8p11 myeloproliferative syndrome Stem cell leukemia/lymphoma A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts. Orphanet ICD-10:D47.1 ICD-11:2A52 OMIM:613523 UMLS:C3150773 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement ORPHA:168953 ICD-10:D47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:613523 E (Exact mapping: the two concepts are equivalent) UMLS:C3150773 E (Exact mapping: the two concepts are equivalent) HES Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. Orphanet MeSH:D017681 MedDRA:10048643 UMLS:C1540912 Not applicable Unknown All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown United States AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168956 Hypereosinophilic syndrome Clinical group ORPHA:168956 MeSH:D017681 E (Exact mapping: the two concepts are equivalent) MedDRA:10048643 E (Exact mapping: the two concepts are equivalent) UMLS:C1540912 E (Exact mapping: the two concepts are equivalent) RAEB-t A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors. Orphanet ICD-10:D46.2 ICD-11:2A34 MedDRA:10038271 UMLS:C0280028 Adolescent Adult Elderly Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168960 Refractory anemia with excess blasts in transformation ORPHA:168960 ICD-10:D46.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A34 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10038271 E (Exact mapping: the two concepts are equivalent) UMLS:C0280028 E (Exact mapping: the two concepts are equivalent) Composite Hodgkin and non-Hodgkin lymphoma A rare lymphoma characterized by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. Clinical presentation and treatment are determined by the more aggressive component. Orphanet ICD-10:C81.7 ICD-10:C85.7 ICD-11:XH3BP6 MeSH:D058617 MedDRA:10073957 UMLS:C0545080 Adult Elderly Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168966 Composite lymphoma ORPHA:168966 ICD-10:C81.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:XH3BP6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058617 E (Exact mapping: the two concepts are equivalent) MedDRA:10073957 E (Exact mapping: the two concepts are equivalent) UMLS:C0545080 E (Exact mapping: the two concepts are equivalent) Intellectual disability, Kahrizi type Intellectual disability-cataract-coloboma-kyphosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to SRD5A3-CDG OMIM:612713 UMLS:C2675185 Kahrizi syndrome ORPHA:168972 OMIM:612713 E (Exact mapping: the two concepts are equivalent) UMLS:C2675185 E (Exact mapping: the two concepts are equivalent) A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C567763 OMIM:613089 UMLS:C2751313 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168984 CLAPO syndrome ORPHA:168984 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567763 E (Exact mapping: the two concepts are equivalent) OMIM:613089 E (Exact mapping: the two concepts are equivalent) UMLS:C2751313 E (Exact mapping: the two concepts are equivalent) A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence. Orphanet ICD-10:C43.9 UMLS:C5191057 Adult Elderly Belgium AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 1.5 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown United States AND has_annual_incidence_average_value : 0.23 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168999 Malignant melanoma of the mucosa ORPHA:168999 ICD-10:C43.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191057 E (Exact mapping: the two concepts are equivalent) Pili annulati A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases. Orphanet ICD-10:Q84.1 ICD-11:EC21.0 MeSH:C537187 OMIM:180600 UMLS:C0263489 Autosomal dominant Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169 Ringed hair disease ORPHA:169 ICD-10:Q84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EC21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537187 E (Exact mapping: the two concepts are equivalent) OMIM:180600 E (Exact mapping: the two concepts are equivalent) UMLS:C0263489 E (Exact mapping: the two concepts are equivalent) Cernunnos XLFD Cernunnos deficiency Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome NHEJ1 deficiency Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. Orphanet ICD-10:D81.1 ICD-11:4A01.1Y OMIM:611291 UMLS:C4303792 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169079 Cernunnos-XLF deficiency ORPHA:169079 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611291 E (Exact mapping: the two concepts are equivalent) UMLS:C4303792 E (Exact mapping: the two concepts are equivalent) A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy. Orphanet ICD-10:D81.2 ICD-11:4A01.1Y OMIM:615607 UMLS:C4510864 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169082 Combined immunodeficiency due to CD3gamma deficiency ORPHA:169082 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615607 E (Exact mapping: the two concepts are equivalent) UMLS:C4510864 E (Exact mapping: the two concepts are equivalent) Familial CD8 deficiency A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. Orphanet ICD-10:D84.8 ICD-11:4A01.1Y MeSH:C563824 OMIM:608957 UMLS:C1837065 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation ORPHA:169085 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563824 E (Exact mapping: the two concepts are equivalent) OMIM:608957 E (Exact mapping: the two concepts are equivalent) UMLS:C1837065 E (Exact mapping: the two concepts are equivalent) Immune dysfunction due to T-cell inactivation due to calcium entry defect Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the <i>ORAI1</i> and <i>STIM1</i> genes: CID due to <i>ORAI1</i> deficiency and CID due to <i>STIM1</i> deficiency. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:612782 OMIM:612783 UMLS:C4303571 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169090 Combined immunodeficiency due to CRAC channel dysfunction ORPHA:169090 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612782 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612783 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4303571 E (Exact mapping: the two concepts are equivalent) Alymphoid cystic thymic dysgenesis Nude/SCID Nude/severe combined immunodeficiency SCID due to FOXN1 deficiency Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome Winged helix deficiency A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Orphanet ICD-10:D82.8 ICD-11:4A01.1Y MeSH:C536781 OMIM:601705 UMLS:C1866426 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169095 Severe combined immunodeficiency due to FOXN1 deficiency ORPHA:169095 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536781 E (Exact mapping: the two concepts are equivalent) OMIM:601705 E (Exact mapping: the two concepts are equivalent) UMLS:C1866426 E (Exact mapping: the two concepts are equivalent) Interleukin-2 receptor alpha chain deficiency A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy. Orphanet ICD-10:D89.8 ICD-11:4A01.21 OMIM:606367 UMLS:C4755277 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169100 Immunodeficiency due to CD25 deficiency ORPHA:169100 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606367 E (Exact mapping: the two concepts are equivalent) UMLS:C4755277 E (Exact mapping: the two concepts are equivalent) Thymoma-immunodeficiency syndrome Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections. Orphanet ICD-10:D81.8 ICD-11:4B40.2 MedDRA:10079838 UMLS:C0221027 Adult Worldwide AND has_cases/families_value : 241.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169105 Good syndrome ORPHA:169105 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B40.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10079838 E (Exact mapping: the two concepts are equivalent) UMLS:C0221027 E (Exact mapping: the two concepts are equivalent) ICD-10:D80.8 ICD-11:4A01.04 UMLS:C0398692 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169110 Immunoglobulin heavy chain deficiency ORPHA:169110 ICD-10:D80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0398692 E (Exact mapping: the two concepts are equivalent) A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal. Orphanet ICD-10:D80.7 ICD-11:4A01.03 MedDRA:10044388 UMLS:C0272238 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169139 Transient hypogammaglobulinemia of infancy ORPHA:169139 ICD-10:D80.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10044388 E (Exact mapping: the two concepts are equivalent) UMLS:C0272238 E (Exact mapping: the two concepts are equivalent) Neutrophil-specific granule deficiency A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails. Orphanet ICD-10:D71 ICD-11:4A00.0Y OMIM:245480 OMIM:617475 UMLS:C5546032 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169142 Recurrent infections due to specific granule deficiency ORPHA:169142 ICD-10:D71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245480 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617475 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5546032 E (Exact mapping: the two concepts are equivalent) Immunodeficiency due to C1, C4, or C2 component complement deficiency Immunodeficiency due to an early component of complement deficiency A rare primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected. Orphanet ICD-10:D84.1 ICD-11:4A00.10 OMIM:216950 OMIM:217000 OMIM:613652 OMIM:613783 OMIM:614379 OMIM:614380 UMLS:C0398750 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169147 Immunodeficiency due to a classical component pathway complement deficiency ORPHA:169147 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:216950 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:217000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613652 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613783 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614379 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614380 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0398750 E (Exact mapping: the two concepts are equivalent) Immunodeficiency due to C5 to C9 component complement deficiency Terminal complement pathway deficiency Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable. Orphanet ICD-10:D84.1 ICD-11:4A00.11 OMIM:609536 OMIM:610102 OMIM:612446 OMIM:613789 OMIM:613790 OMIM:613825 UMLS:C0398765 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169150 Immunodeficiency due to a late component of complement deficiency ORPHA:169150 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:609536 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610102 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612446 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613789 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613790 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613825 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0398765 E (Exact mapping: the two concepts are equivalent) T-B+ SCID due to IL-7Ralpha deficiency A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. Orphanet ICD-10:D81.2 ICD-11:4A01.10 OMIM:608971 UMLS:C5679577 Autosomal recessive Infancy Chile AND has_birth_prevalence_average_value : 0.04 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency ORPHA:169154 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608971 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679577 E (Exact mapping: the two concepts are equivalent) T-B+ SCID due to CD45 deficiency A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. Orphanet ICD-10:D81.2 ICD-11:4A01.10 OMIM:608971 UMLS:C5679579 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169157 T-B+ severe combined immunodeficiency due to CD45 deficiency ORPHA:169157 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608971 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679579 E (Exact mapping: the two concepts are equivalent) T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients. Orphanet ICD-10:D81.2 ICD-11:4A01.10 OMIM:610163 OMIM:615615 OMIM:615617 UMLS:C5679578 Autosomal recessive Infancy Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta ORPHA:169160 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610163 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615615 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615617 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679578 E (Exact mapping: the two concepts are equivalent) MedDRA:10072229 UMLS:C3267076 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169163 Familial scaphocephaly syndrome Category ORPHA:169163 MedDRA:10072229 E (Exact mapping: the two concepts are equivalent) UMLS:C3267076 E (Exact mapping: the two concepts are equivalent) AR-CNM A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement. Orphanet ICD-10:G71.2 ICD-11:8C72.01 MeSH:C562934 OMIM:255200 OMIM:615959 UMLS:C0410204 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169186 Autosomal recessive centronuclear myopathy ORPHA:169186 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562934 E (Exact mapping: the two concepts are equivalent) OMIM:255200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615959 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0410204 E (Exact mapping: the two concepts are equivalent) AD-CNM A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features. Orphanet ICD-10:G71.2 ICD-11:8C72.01 OMIM:160150 UMLS:C1834558 Autosomal dominant Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169189 Autosomal dominant centronuclear myopathy ORPHA:169189 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:160150 E (Exact mapping: the two concepts are equivalent) UMLS:C1834558 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 1 Trisomy 1 mosaicism A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C5394675 Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1692 Mosaic trisomy 1 syndrome ORPHA:1692 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5394675 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01.31 UMLS:C5680459 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies Category ORPHA:169346 ICD-11:4A01.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680459 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01.32 UMLS:C0432218 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169349 Immuno-osseous dysplasia Clinical group ORPHA:169349 ICD-11:4A01.32 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0432218 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01.21 UMLS:C5680460 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169355 Immunodeficiency syndrome with autoimmunity Category ORPHA:169355 ICD-11:4A01.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680460 E (Exact mapping: the two concepts are equivalent) UMLS:C5680458 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169361 Immune dysregulation disease with immunodeficiency Category ORPHA:169361 UMLS:C5680458 E (Exact mapping: the two concepts are equivalent) 20p12.1 dJ842G6.1 ClinVar:C20ORF7 Ensembl:ENSG00000101247 Genatlas:C20ORF7 HGNC:15899 OMIM:612360 Reactome:Q5TEU4 SwissProt:Q5TEU4 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 8q22.1 MGC40214 ClinVar:NDUFAF6 Ensembl:ENSG00000156170 Genatlas:NDUFAF6 HGNC:28625 OMIM:612392 Reactome:Q330K2 SwissProt:Q330K2 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 11q13.4 CFAP111 COMT2 LRTOMT1 LRTOMT2 ClinVar:LRTOMT Ensembl:ENSG00000184154 Genatlas:LRTOMT HGNC:25033 OMIM:612414 Reactome:Q8WZ04 SwissProt:Q8WZ04 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing 19q13.42 SEN34 SEN34L ClinVar:TSEN34 Ensembl:ENSG00000170892 Genatlas:TSEN34 HGNC:15506 OMIM:608754 Reactome:Q9BSV6 SwissProt:Q9BSV6 TSEN34 tRNA splicing endonuclease subunit 34 3p25.2 MGC2776 SEN2 SEN2L ClinVar:TSEN2 Ensembl:ENSG00000154743 Genatlas:TSEN2 HGNC:28422 OMIM:608753 Reactome:Q8NCE0 SwissProt:Q8NCE0 TSEN2 tRNA splicing endonuclease subunit 2 8q21.11 FLJ20533 ClinVar:TMEM70 Ensembl:ENSG00000175606 Genatlas:TMEM70 HGNC:26050 OMIM:612418 SwissProt:Q9BUB7 TMEM70 transmembrane protein 70 ICD-11:4A01.02 UMLS:C5680449 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Category ORPHA:169443 ICD-11:4A01.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680449 E (Exact mapping: the two concepts are equivalent) OBSOLETE: AR-HIES OBSOLETE: Autosomal recessive HIES OBSOLETE: Hyperimmunoglobulin E syndrome type 2 OBSOLETE: Non-skeletal hyper-IgE syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency OBSOLETE: Autosomal recessive hyper-IgE syndrome ORPHA:169446 A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). Orphanet ICD-10:D84.1 ICD-11:4A00.1Y OMIM:612300 UMLS:C4755276 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169464 Primary CD59 deficiency ORPHA:169464 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612300 E (Exact mapping: the two concepts are equivalent) UMLS:C4755276 E (Exact mapping: the two concepts are equivalent) Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to <i> Neisseria </i> bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Orphanet ICD-10:D84.1 ICD-11:4A00.1Y OMIM:613912 UMLS:C5190780 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169467 Recurrent Neisseria infections due to factor D deficiency ORPHA:169467 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613912 E (Exact mapping: the two concepts are equivalent) UMLS:C5190780 E (Exact mapping: the two concepts are equivalent) Non-distal trisomy 10q Non-telomeric trisomy 10q Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. Orphanet ICD-10:Q92.3 UMLS:C4749376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1695 Non-distal duplication 10q syndrome ORPHA:1695 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749376 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Idiopathic central precocious puberty ORPHA:169615 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Secondary central precocious puberty ORPHA:169618 Severe congenital F9 deficiency Severe congenital factor IX deficiency A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations. Orphanet ICD-10:D67 ICD-11:3B11.0 OMIM:306900 UMLS:C5679576 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169793 Severe hemophilia B Clinical subtype ORPHA:169793 ICD-10:D67 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679576 E (Exact mapping: the two concepts are equivalent) Moderate congenital F9 deficiency Moderate congenital factor IX deficiency A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations. Orphanet ICD-10:D67 ICD-11:3B11.0 OMIM:306900 UMLS:C5679575 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169796 Moderate hemophilia B Clinical subtype ORPHA:169796 ICD-10:D67 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679575 E (Exact mapping: the two concepts are equivalent) Mild congenital F9 deficiency Mild congenital factor IX deficiency A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40&nbsp;IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations. Orphanet ICD-10:D67 ICD-11:3B11.0 OMIM:306900 UMLS:C5679574 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169799 Mild hemophilia B Clinical subtype ORPHA:169799 ICD-10:D67 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679574 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 12 Trisomy 12 mosaicism Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C4706889 Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1698 Mosaic trisomy 12 syndrome ORPHA:1698 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706889 E (Exact mapping: the two concepts are equivalent) Severe congenital F8 deficiency Severe congenital factor VIII deficiency A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations. Orphanet ICD-10:D66 ICD-11:3B10.0 OMIM:306700 UMLS:C0272322 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169802 Severe hemophilia A Clinical subtype ORPHA:169802 ICD-10:D66 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0272322 E (Exact mapping: the two concepts are equivalent) Moderate congenital F8 deficiency Moderate congenital factor VIII deficiency A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations. Orphanet ICD-10:D66 ICD-11:3B10.0 OMIM:306700 UMLS:C0272323 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169805 Moderate hemophilia A Clinical subtype ORPHA:169805 ICD-10:D66 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0272323 E (Exact mapping: the two concepts are equivalent) Mild congenital F8 deficiency Mild congenital factor VIII deficiency A mild form of hemophilia A characterized by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous hemorrhages do not occur. Patients may be also labeled as having mild hemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with hemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations. Orphanet ICD-10:D66 ICD-11:3B10.0 OMIM:306700 UMLS:C0272324 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169808 Mild hemophilia A Clinical subtype ORPHA:169808 ICD-10:D66 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0272324 E (Exact mapping: the two concepts are equivalent) UMLS:C5680448 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=169826 Congenital vitamin K-dependent coagulation factors deficiency Category ORPHA:169826 UMLS:C5680448 E (Exact mapping: the two concepts are equivalent) 12q23.1 VGLUT3 vesicular glutamate transporter 3 ClinVar:SLC17A8 Ensembl:ENSG00000179520 Genatlas:SLC17A8 HGNC:20151 IUPHAR:1009 OMIM:607557 Reactome:Q8NDX2 SwissProt:Q8NDX2 SLC17A8 solute carrier family 17 member 8 Duplication 12p A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.B1 MeSH:C538299 UMLS:C0795845 Not applicable Unknown Neonatal Worldwide AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1699 Trisomy 12p syndrome ORPHA:1699 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.B1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538299 E (Exact mapping: the two concepts are equivalent) UMLS:C0795845 E (Exact mapping: the two concepts are equivalent) 14q32.13 GRX5 PR01238 ClinVar:GLRX5 Ensembl:ENSG00000182512 Genatlas:GLRX5 HGNC:20134 OMIM:609588 Reactome:Q86SX6 SwissProt:Q86SX6 GLRX5 glutaredoxin 5 1p12 ClinVar:TBX15 Ensembl:ENSG00000092607 Genatlas:TBX15 HGNC:11594 OMIM:604127 Reactome:Q96SF7 SwissProt:Q96SF7 TBX15 T-box transcription factor 15 17q25.1 CILD9 DIC2 dynein intermediate chain 2 oda6 ClinVar:DNAI2 Ensembl:ENSG00000171595 Genatlas:DNAI2 HGNC:18744 OMIM:605483 SwissProt:Q9GZS0 DNAI2 dynein axonemal intermediate chain 2 2q31.2 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A ClinVar:PDE11A Ensembl:ENSG00000128655 Genatlas:PDE11A HGNC:8773 IUPHAR:1311 OMIM:604961 Reactome:Q9HCR9 SwissProt:Q9HCR9 PDE11A phosphodiesterase 11A 6q12 SPAM bA166P24.2 bA307F22.3 bA74E24.1 dJ1018A4.2 dJ303F19.1 ClinVar:EYS Ensembl:ENSG00000188107 Genatlas:EYS HGNC:21555 OMIM:612424 SwissProt:Q5T1H1 EYS eyes shut homolog 2p25.1 KIAA0188 phosphatidate phosphatase LPIN1 ClinVar:LPIN1 Ensembl:ENSG00000134324 Genatlas:LPIN1 HGNC:13345 IUPHAR:1435 OMIM:605518 Reactome:Q14693 SwissProt:Q14693 LPIN1 lipin 1 1q24.2 FLJ11752 GO NTKL-BP1 RAB6-interacting golgin gerodermia osteodysplastica ClinVar:GORAB Ensembl:ENSG00000120370 Genatlas:GORAB HGNC:25676 OMIM:607983 Reactome:Q5T7V8 SwissProt:Q5T7V8 GORAB golgin, RAB6 interacting 12q12 EPM1B FLJ31937 REST/NRSF interacting LIM domain protein RILP ClinVar:PRICKLE1 Ensembl:ENSG00000139174 Genatlas:PRICKLE1 HGNC:17019 OMIM:608500 Reactome:Q96MT3 SwissProt:Q96MT3 PRICKLE1 prickle planar cell polarity protein 1 7p14.1 DERP13 FLJ11808 ORF19 Russel-Silver syndrome candidate dermal papilla derived protein 13 succinate-hydroxymethylglutarate CoA-transferase ClinVar:C7orf10 Ensembl:ENSG00000175600 Genatlas:C7orf10 HGNC:16001 OMIM:609187 SwissProt:Q9HAC7 SUGCT succinyl-CoA:glutarate-CoA transferase Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. Orphanet ICD-10:E71.1 ICD-11:5C53.20 OMIM:245400 UMLS:C4275183 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=17 Fatal infantile lactic acidosis with methylmalonic aciduria ORPHA:17 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245400 E (Exact mapping: the two concepts are equivalent) UMLS:C4275183 E (Exact mapping: the two concepts are equivalent) Familial woolly hair syndrome Familial wooly hair syndrome Hereditary woolly hair syndrome Hereditary wooly hair syndrome Wooly hair A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair. Orphanet ICD-10:Q84.1 ICD-11:EC21.0 MeSH:C536745 MedDRA:10048017 OMIM:194300 OMIM:278150 OMIM:604379 OMIM:615896 OMIM:616760 UMLS:C0343073 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=170 Woolly hair ORPHA:170 ICD-10:Q84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EC21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536745 E (Exact mapping: the two concepts are equivalent) MedDRA:10048017 E (Exact mapping: the two concepts are equivalent) OMIM:194300 E (Exact mapping: the two concepts are equivalent) OMIM:278150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604379 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615896 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616760 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0343073 E (Exact mapping: the two concepts are equivalent) Non-distal trisomy 13q Non-telomeric trisomy 13q Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. Orphanet ICD-10:Q92.3 UMLS:C4707260 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1702 Non-distal duplication 13q syndrome ORPHA:1702 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707260 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 14 Trisomy 14 mosaicism Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MeSH:C535489 UMLS:C2930917 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1703 Mosaic trisomy 14 syndrome ORPHA:1703 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535489 E (Exact mapping: the two concepts are equivalent) UMLS:C2930917 E (Exact mapping: the two concepts are equivalent) Telomeric duplication 14q Trisomy 14qter Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Orphanet ICD-10:Q92.3 MeSH:C538034 UMLS:C2931702 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1705 Distal duplication 14q syndrome ORPHA:1705 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538034 E (Exact mapping: the two concepts are equivalent) UMLS:C2931702 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 15 Trisomy 15 mosaicism Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MeSH:C538037 UMLS:C2931707 Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1706 Mosaic trisomy 15 syndrome ORPHA:1706 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538037 E (Exact mapping: the two concepts are equivalent) UMLS:C2931707 E (Exact mapping: the two concepts are equivalent) Distal trisomy 15q Telomeric duplication 15q Trisomy 15qter ICD-10:Q92.3 ICD-11:LD2C MeSH:C538036 UMLS:C2931705 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1707 Distal duplication 15q syndrome Etiological subtype ORPHA:1707 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538036 E (Exact mapping: the two concepts are equivalent) UMLS:C2931705 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 16 Trisomy 16 mosaicism Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C4707009 Antenatal Neonatal Worldwide AND has_cases/families_value : 226.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1708 Mosaic trisomy 16 syndrome ORPHA:1708 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707009 E (Exact mapping: the two concepts are equivalent) PSC Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. Orphanet ICD-10:K83.0 ICD-11:DB96.2 MeSH:D015209 MedDRA:10036732 OMIM:602114 OMIM:613806 UMLS:C0566602 Multigenic/multifactorial Adolescent Adult Childhood Elderly Canada AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.77 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 7.84 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 8.5 AND has_point_prevalence_range : 1-9 / 100 000 Singapore AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 1.22 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 16.2 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 8.28 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.77 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 8.81 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 8.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171 Primary sclerosing cholangitis ORPHA:171 ICD-10:K83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DB96.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015209 E (Exact mapping: the two concepts are equivalent) MedDRA:10036732 E (Exact mapping: the two concepts are equivalent) OMIM:602114 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613806 E (Exact mapping: the two concepts are equivalent) UMLS:C0566602 E (Exact mapping: the two concepts are equivalent) 17q21.31 UGRP Ubiquitous glucose-6-phosphatase catalytic subunit-related protein ClinVar:G6PC3 Ensembl:ENSG00000141349 Genatlas:G6PC3 HGNC:24861 OMIM:611045 Reactome:Q9BUM1 SwissProt:Q9BUM1 G6PC3 glucose-6-phosphatase catalytic subunit 3 4p16.1 GLUTX Glut9 URATv1 urate voltage-driven efflux transporter 1 ClinVar:SLC2A9 Ensembl:ENSG00000109667 Genatlas:SLC2A9 HGNC:13446 IUPHAR:882 OMIM:606142 Reactome:Q9NRM0 SwissProt:Q9NRM0 SLC2A9 solute carrier family 2 member 9 2p25.3 S7 eS7 ClinVar:RPS7 Ensembl:ENSG00000171863 Genatlas:RPS7 HGNC:10440 OMIM:603658 Reactome:P62081 SwissProt:P62081 RPS7 ribosomal protein S7 1p22.1 L5 PPP1R135 protein phosphatase 1, regulatory subunit 135 uL18 ClinVar:RPL5 Ensembl:ENSG00000122406 Genatlas:RPL5 HGNC:10360 OMIM:603634 Reactome:P46777 SwissProt:P46777 RPL5 ribosomal protein L5 1p36.11 60S ribosomal protein L11 L11 uL5 ClinVar:RPL11 Ensembl:ENSG00000142676 Genatlas:RPL11 HGNC:10301 OMIM:604175 Reactome:P62913 SwissProt:P62913 RPL11 ribosomal protein L11 3q29 GIG33 L35A eL33 ClinVar:RPL35A Ensembl:ENSG00000182899 Genatlas:RPL35A HGNC:10345 OMIM:180468 Reactome:P18077 SwissProt:P18077 RPL35A ribosomal protein L35a 2q23.2 CL25022 cblD ClinVar:MMADHC Ensembl:ENSG00000168288 Genatlas:MMADHC HGNC:25221 OMIM:611935 Reactome:Q9H3L0 SwissProt:Q9H3L0 MMADHC metabolism of cobalamin associated D 7q31.2 ClinVar:CAV1 Ensembl:ENSG00000105974 Genatlas:CAV1 HGNC:1527 OMIM:601047 Reactome:Q03135 SwissProt:Q03135 CAV1 caveolin 1 14q21.3 CILD10 FLJ10563 KTU kintoun pf13 ClinVar:DNAAF2 Ensembl:ENSG00000165506 Genatlas:DNAAF2 HGNC:20188 OMIM:612517 Reactome:Q9NVR5 SwissProt:Q9NVR5 DNAAF2 dynein axonemal assembly factor 2 1q42.2 HIF prolyl hydroxylase 2 HIFPH2 PHD2 SM-20 ZMYND6 ClinVar:EGLN1 Ensembl:ENSG00000135766 Genatlas:EGLN1 HGNC:1232 IUPHAR:2833 OMIM:606425 Reactome:Q9GZT9 SwissProt:Q9GZT9 EGLN1 egl-9 family hypoxia inducible factor 1 12q24.11 CMT2C OTRPC4 TRP12 VR-OAC VRL-2 VROAC osmosensitive transient receptor potential channel 4 ClinVar:TRPV4 Ensembl:ENSG00000111199 Genatlas:TRPV4 HGNC:18083 IUPHAR:510 OMIM:605427 Reactome:Q9HBA0 SwissProt:Q9HBA0 TRPV4 transient receptor potential cation channel subfamily V member 4 18q21.1 KIAA1119 ClinVar:MYO5B Ensembl:ENSG00000167306 Genatlas:MYO5B HGNC:7603 OMIM:606540 Reactome:Q9ULV0 SwissProt:Q9ULV0 MYO5B myosin VB Mosaic trisomy chromosome 17 Trisomy 17 mosaicism Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C1096168 Antenatal Neonatal Worldwide AND has_cases/families_value : 31.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1711 Mosaic trisomy 17 syndrome ORPHA:1711 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1096168 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic anorectal malformation OBSOLETE: High isolated anorectal malformation ORPHA:171201 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic anorectal malformation OBSOLETE: Intermediate isolated anorectal malformation ORPHA:171208 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic anorectal malformation OBSOLETE: Low isolated anorectal malformation ORPHA:171215 A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. Orphanet ICD-10:Q43.4 ICD-11:LB17.Y UMLS:C4511483 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171220 Rectal duplication ORPHA:171220 ICD-10:Q43.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4511483 E (Exact mapping: the two concepts are equivalent) Potocki-Lupski syndrome Trisomy 17p11.2 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. Orphanet ICD-10:Q92.3 ICD-11:LD41.G1 MeSH:C538355 OMIM:610883 UMLS:C2931246 Not applicable Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 170.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1713 17p11.2 microduplication syndrome ORPHA:1713 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538355 E (Exact mapping: the two concepts are equivalent) OMIM:610883 E (Exact mapping: the two concepts are equivalent) UMLS:C2931246 E (Exact mapping: the two concepts are equivalent) Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates. Orphanet ICD-10:G71.2 ICD-11:8C72.00 OMIM:161800 OMIM:256030 OMIM:615348 OMIM:615731 OMIM:616165 UMLS:C5680451 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171430 Severe congenital nemaline myopathy ORPHA:171430 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615348 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616165 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680451 E (Exact mapping: the two concepts are equivalent) Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. Orphanet ICD-10:G71.2 ICD-11:8C72.00 OMIM:161800 OMIM:256030 OMIM:609284 OMIM:615731 UMLS:C5680452 Autosomal dominant Autosomal recessive Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171433 Intermediate nemaline myopathy ORPHA:171433 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609284 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680452 E (Exact mapping: the two concepts are equivalent) Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement. Orphanet ICD-10:G71.2 ICD-11:8C72.00 OMIM:161800 OMIM:256030 OMIM:609285 OMIM:610687 OMIM:615731 OMIM:616165 UMLS:C5680453 Autosomal dominant Autosomal recessive Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171436 Typical nemaline myopathy ORPHA:171436 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609285 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610687 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616165 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680453 E (Exact mapping: the two concepts are equivalent) Mild nemaline myopathy Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Orphanet ICD-10:G71.2 ICD-11:8C72.00 OMIM:161800 OMIM:256030 OMIM:609273 OMIM:609284 OMIM:609285 OMIM:615731 OMIM:617336 UMLS:C0546125 Autosomal dominant Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171439 Childhood-onset nemaline myopathy ORPHA:171439 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:161800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:256030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609273 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609284 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609285 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615731 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617336 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0546125 E (Exact mapping: the two concepts are equivalent) A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. Orphanet ICD-10:G71.2 ICD-11:8C72.00 UMLS:C0546123 Not applicable Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171442 Adult-onset nemaline myopathy ORPHA:171442 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0546123 E (Exact mapping: the two concepts are equivalent) FLNC-associated myofibrillar myopathy Filamin C-related filaminopathy MFM5 Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. Orphanet ICD-10:G71.8 ICD-11:8C76 OMIM:609524 UMLS:C4707258 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171445 Muscle filaminopathy ORPHA:171445 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609524 E (Exact mapping: the two concepts are equivalent) UMLS:C4707258 E (Exact mapping: the two concepts are equivalent) Duplication 18p Duplication of the short arm of chromosome 18 Trisomy of the short arm of chromosome 18 A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others. Orphanet ICD-10:Q92.2 ICD-11:LD41.H1 MeSH:C538307 UMLS:C2931811 Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1715 Trisomy 18p syndrome ORPHA:1715 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.H1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538307 E (Exact mapping: the two concepts are equivalent) UMLS:C2931811 E (Exact mapping: the two concepts are equivalent) Distal trisomy 18q Telomeric duplication 18q Trisomy 18qter A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. Orphanet ICD-10:Q92.3 UMLS:C5190516 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1716 Distal duplication 18q syndrome ORPHA:1716 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190516 E (Exact mapping: the two concepts are equivalent) SPG34 X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. Orphanet ICD-10:G11.4 ICD-11:8B44.02 MeSH:C567465 OMIM:300750 UMLS:C2677897 X-linked recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171607 X-linked spastic paraplegia type 34 ORPHA:171607 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567465 E (Exact mapping: the two concepts are equivalent) OMIM:300750 E (Exact mapping: the two concepts are equivalent) UMLS:C2677897 E (Exact mapping: the two concepts are equivalent) SPG37 A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C567931 OMIM:611945 UMLS:C2936880 Autosomal dominant All ages Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171612 Autosomal dominant spastic paraplegia type 37 ORPHA:171612 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567931 E (Exact mapping: the two concepts are equivalent) OMIM:611945 E (Exact mapping: the two concepts are equivalent) UMLS:C2936880 E (Exact mapping: the two concepts are equivalent) SPG38 A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, <i>pes cavus</i>, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C567349 OMIM:612335 UMLS:C2676732 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171617 Autosomal dominant spastic paraplegia type 38 ORPHA:171617 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567349 E (Exact mapping: the two concepts are equivalent) OMIM:612335 E (Exact mapping: the two concepts are equivalent) UMLS:C2676732 E (Exact mapping: the two concepts are equivalent) SPG32 Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C566983 OMIM:611252 UMLS:C1970009 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171622 Autosomal recessive spastic paraplegia type 32 ORPHA:171622 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566983 E (Exact mapping: the two concepts are equivalent) OMIM:611252 E (Exact mapping: the two concepts are equivalent) UMLS:C1970009 E (Exact mapping: the two concepts are equivalent) SPG35 Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C567311 OMIM:612319 UMLS:C3496228 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171629 Autosomal recessive spastic paraplegia type 35 ORPHA:171629 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567311 E (Exact mapping: the two concepts are equivalent) OMIM:612319 E (Exact mapping: the two concepts are equivalent) UMLS:C3496228 E (Exact mapping: the two concepts are equivalent) 4q21.3-q22.1 AF-4 AF4 ALL1-fused gene from chromosome 4 FEL ClinVar:AFF1 Ensembl:ENSG00000172493 Genatlas:AFF1 HGNC:7135 OMIM:159557 Reactome:P51825 SwissProt:P51825 AFF1 ALF transcription elongation factor 1 19p13.3 E2A E2A immunoglobulin enhancer-binding factor E12/E47 E47 ITF1 MGC129647 MGC129648 VDIR VDR interacting repressor bHLHb21 immunoglobulin transcription factor 1 kappa-E2-binding factor p75 transcription factor E2-alpha ClinVar:TCF3 Ensembl:ENSG00000071564 Genatlas:TCF3 HGNC:11633 OMIM:147141 Reactome:P15923 SwissProt:P15923 TCF3 transcription factor 3 1q23.3 ClinVar:PBX1 Ensembl:ENSG00000185630 Genatlas:PBX1 HGNC:8632 OMIM:176310 Reactome:P40424 SwissProt:P40424 PBX1 PBX homeobox 1 1p33 MCPH7 ClinVar:STIL Ensembl:ENSG00000123473 Genatlas:STIL HGNC:10879 OMIM:181590 Reactome:Q15468 SwissProt:Q15468 STIL STIL centriolar assembly protein 16q22.1 PEBP2B ClinVar:CBFB Ensembl:ENSG00000067955 Genatlas:CBFB HGNC:1539 OMIM:121360 Reactome:Q13951 SwissProt:Q13951 CBFB core-binding factor subunit beta 8q21.3 CDR ETO MTG8 ZMYND2 ClinVar:RUNX1T1 Ensembl:ENSG00000079102 Genatlas:RUNX1T1 HGNC:1535 OMIM:133435 Reactome:Q06455 SwissProt:Q06455 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 A rare corneal disorder characterized by dysfunction and/or insufficient quantity of corneal limbal stem cells, leading to impaired self-renewal of the corneal epithelium and resulting in epithelial breakdown, corneal conjunctivalization and neovascularization, chronic inflammation, persistent epithelial defects, and scarring. Patients usually present with ocular redness, decreased vision, photophobia, foreign body sensation, tearing, and pain. The condition may be genetic, idiopathic, or acquired (in the context of inflammation, infection, trauma, or ocular surface tumors). Orphanet ICD-10:H18.7 MeSH:D000092423 MedDRA:10072138 UMLS:C1561989 Not applicable Adolescent Adult Childhood Elderly Infancy Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171673 Limbal stem cell deficiency ORPHA:171673 ICD-10:H18.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D000092423 E (Exact mapping: the two concepts are equivalent) MedDRA:10072138 E (Exact mapping: the two concepts are equivalent) UMLS:C1561989 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:P91.2 NON RARE IN EUROPE: Periventricular leukomalacia ORPHA:171676 ICD-10:P91.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:611603 UMLS:C5680517 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171680 Lissencephaly due to TUBA1A mutation ORPHA:171680 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611603 E (Exact mapping: the two concepts are equivalent) UMLS:C5680517 E (Exact mapping: the two concepts are equivalent) Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. Orphanet ICD-10:H81.8 ICD-11:AB34.0 UMLS:C4545229 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171684 Idiopathic bilateral vestibulopathy ORPHA:171684 ICD-10:H81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:AB34.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4545229 E (Exact mapping: the two concepts are equivalent) Erythrocyte lactate transporter defect Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. Orphanet ICD-10:G72.8 MeSH:C565449 OMIM:245340 UMLS:C1855577 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171690 Metabolic myopathy due to lactate transporter defect ORPHA:171690 ICD-10:G72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565449 E (Exact mapping: the two concepts are equivalent) OMIM:245340 E (Exact mapping: the two concepts are equivalent) UMLS:C1855577 E (Exact mapping: the two concepts are equivalent) Pallidopyramidal syndrome Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism). Orphanet ICD-10:G20 ICD-11:8A00.1Y MeSH:C538104 OMIM:168100 OMIM:168601 OMIM:260300 UMLS:C1850100 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171695 Parkinsonian-pyramidal syndrome ORPHA:171695 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538104 E (Exact mapping: the two concepts are equivalent) OMIM:168100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:168601 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:260300 E (Exact mapping: the two concepts are equivalent) UMLS:C1850100 E (Exact mapping: the two concepts are equivalent) Distal trisomy 19q Telomeric duplication 19q Trisomy 19qter Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. Orphanet ICD-10:Q92.3 ICD-11:LD41.J0 UMLS:C4707664 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1717 Distal duplication 19q syndrome ORPHA:1717 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.J0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707664 E (Exact mapping: the two concepts are equivalent) Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis Orphanet ICD-10:J44.8 ICD-11:CA26.1 MeSH:C536174 MedDRA:10062952 OMIM:604809 UMLS:C0878555 Multigenic/multifactorial Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171700 Diffuse panbronchiolitis ORPHA:171700 ICD-10:J44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA26.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536174 E (Exact mapping: the two concepts are equivalent) MedDRA:10062952 E (Exact mapping: the two concepts are equivalent) OMIM:604809 E (Exact mapping: the two concepts are equivalent) UMLS:C0878555 E (Exact mapping: the two concepts are equivalent) Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. Orphanet ICD-10:Q04.3 UMLS:C4750772 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750772 E (Exact mapping: the two concepts are equivalent) Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. Orphanet ICD-10:E03.1 OMIM:609698 OMIM:619855 OMIM:620198 UMLS:C4706661 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency ORPHA:171706 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609698 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619855 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620198 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706661 E (Exact mapping: the two concepts are equivalent) Male infertility due to round-headed spermatozoa Round-headed sperm syndrome Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent. Orphanet ICD-10:N46 OMIM:102530 OMIM:613958 UMLS:C5679591 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171709 Male infertility due to globozoospermia Clinical subtype ORPHA:171709 ICD-10:N46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:102530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613958 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679591 E (Exact mapping: the two concepts are equivalent) Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency UMLS:C1836824 Amish infantile epilepsy syndrome ORPHA:171714 UMLS:C1836824 E (Exact mapping: the two concepts are equivalent) A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q87.8 ICD-11:LD28.2 MeSH:C563639 OMIM:614100 UMLS:C0432335 Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171719 Cutis laxa-Marfanoid syndrome ORPHA:171719 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563639 E (Exact mapping: the two concepts are equivalent) OMIM:614100 E (Exact mapping: the two concepts are equivalent) UMLS:C0432335 E (Exact mapping: the two concepts are equivalent) Hereditary mucosal leukokeratosis White sponge nevus of Cannon White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. Orphanet ICD-10:Q38.6 ICD-11:DA02.0 MeSH:D053529 MedDRA:10072666 OMIM:193900 OMIM:615785 UMLS:C1721005 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171723 White sponge nevus ORPHA:171723 ICD-10:Q38.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:DA02.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053529 E (Exact mapping: the two concepts are equivalent) MedDRA:10072666 E (Exact mapping: the two concepts are equivalent) OMIM:193900 E (Exact mapping: the two concepts are equivalent) OMIM:615785 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1721005 E (Exact mapping: the two concepts are equivalent) Del(6)(q16) Monosomy 6q16 Prader-Willi-like syndrome due to microdeletion 6q16 A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. Orphanet ICD-10:Q93.5 ICD-11:LD29 UMLS:C5438727 Unknown Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171829 6q16 microdeletion syndrome ORPHA:171829 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD29 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5438727 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Enamel-renal syndrome Amelogenesis imperfecta-gingival hyperplasia syndrome ORPHA:171836 Berant syndrome Capra-DeMarco syndrome Familial scaphocephaly-radioulnar synostosis syndrome A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y UMLS:C3267187 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3267187 E (Exact mapping: the two concepts are equivalent) This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. Orphanet ICD-10:Q87.5 ICD-11:LD28.Y OMIM:612445 UMLS:C4303548 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171844 Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612445 E (Exact mapping: the two concepts are equivalent) UMLS:C4303548 E (Exact mapping: the two concepts are equivalent) PHARC syndrome Peripheral neuropathy, Fiskerstrand type Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome This rare neurologic disease is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. Orphanet ICD-10:G60.1 ICD-11:LD2H.Y OMIM:612674 UMLS:C4509920 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848 ICD-10:G60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612674 E (Exact mapping: the two concepts are equivalent) UMLS:C4509920 E (Exact mapping: the two concepts are equivalent) Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. Orphanet ICD-10:E83.0 ICD-11:LD2H.Y OMIM:609313 UMLS:C1836330 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171851 MEDNIK syndrome ORPHA:171851 ICD-10:E83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609313 E (Exact mapping: the two concepts are equivalent) UMLS:C1836330 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using SRD5A3-CDG OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome ORPHA:171860 SPG42 A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C567262 OMIM:612539 UMLS:C2675528 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171863 Autosomal dominant spastic paraplegia type 42 ORPHA:171863 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567262 E (Exact mapping: the two concepts are equivalent) OMIM:612539 E (Exact mapping: the two concepts are equivalent) UMLS:C2675528 E (Exact mapping: the two concepts are equivalent) SEMD, aggrecan type Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C567558 OMIM:612813 UMLS:C2748544 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171866 Spondyloepimetaphyseal dysplasia, aggrecan type ORPHA:171866 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567558 E (Exact mapping: the two concepts are equivalent) OMIM:612813 E (Exact mapping: the two concepts are equivalent) UMLS:C2748544 E (Exact mapping: the two concepts are equivalent) Autosomal dominant PHA1 Autosomal dominant pseudohypoaldosteronism type 1 Renal PHA1 A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. Orphanet ICD-10:N25.8 ICD-11:GB90.41 OMIM:177735 UMLS:C1449842 Autosomal dominant Infancy Neonatal United Kingdom AND has_birth_prevalence_average_value : 1.51 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171871 Renal pseudohypoaldosteronism type 1 Clinical subtype ORPHA:171871 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:177735 E (Exact mapping: the two concepts are equivalent) UMLS:C1449842 E (Exact mapping: the two concepts are equivalent) Autosomal recessive PHA1 Autosomal recessive pseudohypoaldosteronism type 1 Generalized PHA1 A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss. Orphanet ICD-10:N25.8 ICD-11:GB90.41 OMIM:264350 UMLS:C1449843 Autosomal recessive Infancy Neonatal United Kingdom AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171876 Generalized pseudohypoaldosteronism type 1 Clinical subtype ORPHA:171876 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:264350 E (Exact mapping: the two concepts are equivalent) UMLS:C1449843 E (Exact mapping: the two concepts are equivalent) Cap disease Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. Orphanet ICD-10:G71.2 ICD-11:8C72.0Y MeSH:C579969 OMIM:609284 OMIM:609285 UMLS:C3710589 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171881 Cap myopathy ORPHA:171881 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C579969 E (Exact mapping: the two concepts are equivalent) OMIM:609284 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609285 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3710589 E (Exact mapping: the two concepts are equivalent) Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. Orphanet ICD-10:G71.2 ICD-11:8C72.0Y UMLS:C4706943 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171886 Cylindrical spirals myopathy ORPHA:171886 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706943 E (Exact mapping: the two concepts are equivalent) Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. Orphanet ICD-10:G71.2 ICD-11:8C72.0Y UMLS:C4707259 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171889 Myopathy with hexagonally cross-linked tubular arrays ORPHA:171889 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707259 E (Exact mapping: the two concepts are equivalent) UMLS:C5680514 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171895 Myeloid hemopathy Category ORPHA:171895 UMLS:C5680514 E (Exact mapping: the two concepts are equivalent) UMLS:C5680515 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171898 Lymphoid hemopathy Category ORPHA:171898 UMLS:C5680515 E (Exact mapping: the two concepts are equivalent) MeSH:D016410 MedDRA:10011677 UMLS:C0079773 Austria AND has_annual_incidence_average_value : 0.577 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.539 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.158 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.341 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.185 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 5.2 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 24.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_annual_incidence_average_value : 0.326 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.767 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.647 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 1.163 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.097 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.323 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 1.57 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.441 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.431 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.355 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.273 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.225 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.594 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.231 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.197 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171901 Primary cutaneous T-cell lymphoma Category ORPHA:171901 MeSH:D016410 E (Exact mapping: the two concepts are equivalent) MedDRA:10011677 E (Exact mapping: the two concepts are equivalent) UMLS:C0079773 E (Exact mapping: the two concepts are equivalent) B-cell NHL Europe AND has_annual_incidence_average_value : 17.45 AND has_annual_incidence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171915 B-cell non-Hodgkin lymphoma Category ORPHA:171915 T-cell NHL MedDRA:10042971 UMLS:C0079772 Europe AND has_annual_incidence_average_value : 0.99 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171918 T-cell non-Hodgkin lymphoma Category ORPHA:171918 MedDRA:10042971 E (Exact mapping: the two concepts are equivalent) UMLS:C0079772 E (Exact mapping: the two concepts are equivalent) Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. Orphanet ICD-10:Q92.2 ICD-11:LD41.91 UMLS:C4082793 Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=171929 Trisomy 10p syndrome ORPHA:171929 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.91 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4082793 E (Exact mapping: the two concepts are equivalent) PFIC Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Orphanet ICD-10:K76.8 ICD-11:5C58.03 MedDRA:10076033 OMIM:211600 OMIM:601847 OMIM:602347 OMIM:615878 OMIM:617049 OMIM:619484 OMIM:619662 OMIM:619849 OMIM:619868 OMIM:620010 UMLS:C0268312 Autosomal recessive Adolescent Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=172 Progressive familial intrahepatic cholestasis ORPHA:172 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10076033 E (Exact mapping: the two concepts are equivalent) OMIM:211600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601847 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602347 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615878 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617049 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619484 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619662 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619849 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619868 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620010 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268312 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 2 Trisomy 2 mosaicism Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C4707010 Antenatal Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1723 Mosaic trisomy 2 syndrome ORPHA:1723 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707010 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 20 Trisomy 20 mosaicism Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MeSH:C535372 UMLS:C0265479 Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1724 Mosaic trisomy 20 syndrome ORPHA:1724 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535372 E (Exact mapping: the two concepts are equivalent) UMLS:C0265479 E (Exact mapping: the two concepts are equivalent) 22q11.2 microduplication syndrome Dup(22)(q11) Duplication 22q11.2 Trisomy 22q11.2 A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Orphanet ICD-10:Q92.3 ICD-11:LD41.M MeSH:C567224 OMIM:608363 UMLS:C2675369 Autosomal dominant All ages Worldwide AND has_cases/families_value : 216.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1727 22q11.2 duplication syndrome ORPHA:1727 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.M - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567224 E (Exact mapping: the two concepts are equivalent) OMIM:608363 E (Exact mapping: the two concepts are equivalent) UMLS:C2675369 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital myopathy OBSOLETE: Congenital myopathy with protein accumulation ORPHA:172973 UMLS:C5680516 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=172976 Congenital myopathy with cores Clinical group ORPHA:172976 UMLS:C5680516 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital myopathy OBSOLETE: Congenital myopathy with central nuclei ORPHA:172979 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital myopathy OBSOLETE: Congenital myopathy with fiber size variation ORPHA:172982 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital myopathy OBSOLETE: Congenital myopathy with vacuoles ORPHA:172985 Xq28 FRAXF ClinVar:TMEM185A Ensembl:ENSG00000269556 Genatlas:TMEM185A HGNC:17125 OMIM:300031 SwissProt:Q8NFB2 TMEM185A transmembrane protein 185A Cholera is an infectious disease, caused by intestinal infection with <i>Vibrio cholerae</i>, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. Orphanet ICD-10:A00.0 ICD-10:A00.1 ICD-10:A00.9 ICD-11:1A00 MeSH:D002771 MedDRA:10008631 UMLS:C0008354 Not applicable All ages Austria AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 France AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=173 Cholera ORPHA:173 ICD-10:A00.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A00.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A00.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002771 E (Exact mapping: the two concepts are equivalent) MedDRA:10008631 E (Exact mapping: the two concepts are equivalent) UMLS:C0008354 E (Exact mapping: the two concepts are equivalent) 10q22.1 ENT3 FLJ11160 hENT3 ClinVar:SLC29A3 Ensembl:ENSG00000198246 Genatlas:SLC29A3 HGNC:23096 IUPHAR:1119 OMIM:612373 Reactome:Q9BZD2 SwissProt:Q9BZD2 SLC29A3 solute carrier family 29 member 3 10q24.32 AIGF androgen-induced growth factor ClinVar:FGF8 Ensembl:ENSG00000107831 Genatlas:FGF8 HGNC:3686 OMIM:600483 Reactome:P55075 SwissProt:P55075 FGF8 fibroblast growth factor 8 12q14.1 EF-TS EF-Tsmt ClinVar:TSFM Ensembl:ENSG00000123297 Genatlas:TSFM HGNC:12367 OMIM:604723 Reactome:P43897 SwissProt:P43897 TSFM Ts translation elongation factor, mitochondrial 16q22.1 CIRHIN FLJ14728 KIAA1988 NAIC TEX292 UTP4, small subunit (SSU) processome component, homolog (yeast) ClinVar:UTP4 Ensembl:ENSG00000141076 Genatlas:UTP4 HGNC:1983 OMIM:607456 Reactome:Q969X6 SwissProt:Q969X6 UTP4 UTP4 small subunit processome component 1p36.22 6-phosphogluconolactonase GDH/6PGL endoplasmic bifunctional protein H6PDH ClinVar:H6PD Ensembl:ENSG00000049239 Genatlas:H6PD HGNC:4795 OMIM:138090 SwissProt:O95479 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase 1q32.2 SDR26C1 short chain dehydrogenase/reductase family 26C, member 1 ClinVar:HSD11B1 Ensembl:ENSG00000117594 Genatlas:HSD11B1 HGNC:5208 IUPHAR:2763 OMIM:600713 Reactome:P28845 SwissProt:P28845 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 6q22.1 ClinVar:TSPYL1 Ensembl:ENSG00000189241 Genatlas:TSPYL1 HGNC:12382 OMIM:604714 SwissProt:Q9H0U9 TSPYL1 TSPY like 1 10q22.3 MAT MAT-I/III MATA1 S-adenosylmethionine synthase isoform type-1 S-adenosylmethionine synthetase SAMS SAMS1 methionine adenosyltransferase I/III ClinVar:MAT1A Ensembl:ENSG00000151224 Genatlas:MAT1A HGNC:6903 OMIM:610550 Reactome:Q00266 SwissProt:Q00266 MAT1A methionine adenosyltransferase 1A 21q21.1 ENTK MGC133046 enteropeptidase proenterokinase ClinVar:PRSS7 Ensembl:ENSG00000154646 Genatlas:PRSS7 HGNC:9490 IUPHAR:3189 OMIM:606635 SwissProt:P98073 TMPRSS15 transmembrane serine protease 15 17q25.3 FLJ13841 Zfp750 ClinVar:ZNF750 Ensembl:ENSG00000141579 Genatlas:ZNF750 HGNC:25843 OMIM:610226 Reactome:Q32MQ0 SwissProt:Q32MQ0 ZNF750 zinc finger protein 750 4q13.3 FETA alpha-fetoprotein ClinVar:AFP Ensembl:ENSG00000081051 Genatlas:AFP HGNC:317 OMIM:104150 Reactome:P02771 SwissProt:P02771 AFP alpha fetoprotein 7p15.3 CYC HCS ClinVar:CYCS Ensembl:ENSG00000172115 Genatlas:CYCS HGNC:19986 OMIM:123970 Reactome:P99999 SwissProt:P99999 CYCS cytochrome c, somatic 5q33.1 PAT2 TRAMD1 tramdorin ClinVar:SLC36A2 Ensembl:ENSG00000186335 Genatlas:SLC36A2 HGNC:18762 IUPHAR:1162 OMIM:608331 Reactome:Q495M3 SwissProt:Q495M3 SLC36A2 solute carrier family 36 member 2 3p21.31 IMINO SIT1 XT3 Xtrp3 sodium-dependent imino acid transporter 1 ClinVar:SLC6A20 Ensembl:ENSG00000163817 Genatlas:SLC6A20 HGNC:30927 IUPHAR:944 OMIM:605616 Reactome:Q9NP91 SwissProt:Q9NP91 SLC6A20 solute carrier family 6 member 20 5p15.33 FLJ31236 Xtrp2 ClinVar:SLC6A18 Ensembl:ENSG00000164363 Genatlas:SLC6A18 HGNC:26441 IUPHAR:941 OMIM:610300 Reactome:Q96N87 SwissProt:Q96N87 SLC6A18 solute carrier family 6 member 18 Xq11.2 FLJ39827 RP11-403E24.2 WTX Wilms Tumor on the X adenomatous polyposis coli membrane recruitment 1 ClinVar:AMER1 Ensembl:ENSG00000184675 Genatlas:AMER1 HGNC:26837 OMIM:300647 Reactome:Q5JTC6 SwissProt:Q5JTC6 AMER1 APC membrane recruitment protein 1 1p35.1 ClinVar:AK2 Ensembl:ENSG00000004455 Genatlas:AK2 HGNC:362 OMIM:103020 Reactome:P54819 SwissProt:P54819 AK2 adenylate kinase 2 2q13 ADANE NUP358 nucleoporin 358 ClinVar:RANBP2 Ensembl:ENSG00000153201 Genatlas:RANBP2 HGNC:9848 OMIM:601181 Reactome:P49792 SwissProt:P49792 RANBP2 RAN binding protein 2 1q23.3 TKT ClinVar:DDR2 Ensembl:ENSG00000162733 Genatlas:DDR2 HGNC:2731 IUPHAR:1844 OMIM:191311 Reactome:Q16832 SwissProt:Q16832 DDR2 discoidin domain receptor tyrosine kinase 2 17q25.1 KIAA1381 ClinVar:COG1 Ensembl:ENSG00000166685 Genatlas:COG1 HGNC:6545 OMIM:606973 Reactome:Q8WTW3 SwissProt:Q8WTW3 COG1 component of oligomeric golgi complex 1 6q13 FLJ11240 bA810I22.1 cblF ClinVar:LMBRD1 Ensembl:ENSG00000168216 Genatlas:LMBRD1 HGNC:23038 OMIM:612625 Reactome:Q9NUN5 SwissProt:Q9NUN5 LMBRD1 LMBR1 domain containing 1 Duplication 4p Duplication of the short arm of chromosome 4 Trisomy of the short arm of chromosome 4 Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males. Orphanet ICD-10:Q92.2 ICD-11:LD41.31 MeSH:C537643 MedDRA:10080079 UMLS:C0265405 Infancy Neonatal Worldwide AND has_cases/families_value : 85.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1738 Trisomy 4p syndrome ORPHA:1738 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537643 E (Exact mapping: the two concepts are equivalent) MedDRA:10080079 E (Exact mapping: the two concepts are equivalent) UMLS:C0265405 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Trisomy 4q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial duplication of the long arm of chromosome 4 OBSOLETE: Duplication 4q ORPHA:1739 Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. Orphanet ICD-10:Q78.5 ICD-11:LD24.7 MeSH:C537352 OMIM:156500 UMLS:C0265289 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=174 Metaphyseal chondrodysplasia, Schmid type ORPHA:174 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537352 E (Exact mapping: the two concepts are equivalent) OMIM:156500 E (Exact mapping: the two concepts are equivalent) UMLS:C0265289 E (Exact mapping: the two concepts are equivalent) Duplication 5p Duplication of the short arm of chromosome 5 Trisomy of the short arm of chromosome 5 Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit. Orphanet ICD-10:Q92.2 ICD-11:LD41.41 UMLS:C0812464 Not applicable Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1742 Trisomy 5p syndrome ORPHA:1742 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0812464 E (Exact mapping: the two concepts are equivalent) Distal trisomy 6p Telomeric duplication 6p Trisomy 6pter Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. Orphanet ICD-10:Q92.3 ICD-11:LD41.51 UMLS:C4302551 Antenatal Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1745 Distal duplication 6p syndrome ORPHA:1745 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302551 E (Exact mapping: the two concepts are equivalent) MedDRA:10083932 UMLS:C3899503 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=174590 Congenital hypogonadotropic hypogonadism Category ORPHA:174590 MedDRA:10083932 E (Exact mapping: the two concepts are equivalent) UMLS:C3899503 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 7 Trisomy 7 mosaicism Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MeSH:C537822 UMLS:C2931631 Antenatal Neonatal Worldwide AND has_cases/families_value : 31.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1747 Mosaic trisomy 7 syndrome ORPHA:1747 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537822 E (Exact mapping: the two concepts are equivalent) UMLS:C2931631 E (Exact mapping: the two concepts are equivalent) Autosomal recessive metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair. Orphanet ICD-10:Q78.8 ICD-11:LD27.0Y MeSH:C535916 MedDRA:10069596 OMIM:250250 OMIM:250460 UMLS:C0220748 Autosomal recessive Infancy Neonatal Finland AND has_birth_prevalence_average_value : 4.34 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 150.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=175 Cartilage-hair hypoplasia ORPHA:175 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535916 E (Exact mapping: the two concepts are equivalent) MedDRA:10069596 E (Exact mapping: the two concepts are equivalent) OMIM:250250 E (Exact mapping: the two concepts are equivalent) OMIM:250460 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0220748 E (Exact mapping: the two concepts are equivalent) Duplication 8q A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size. Orphanet ICD-10:Q92.2 ICD-11:LD41.70 MeSH:C538020 UMLS:C0795829 Unknown Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1752 Trisomy 8q syndrome ORPHA:1752 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538020 E (Exact mapping: the two concepts are equivalent) UMLS:C0795829 E (Exact mapping: the two concepts are equivalent) Dipygus Split notochord syndrome Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:607864 UMLS:C0266688 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1756 Caudal duplication ORPHA:1756 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607864 E (Exact mapping: the two concepts are equivalent) UMLS:C0266688 E (Exact mapping: the two concepts are equivalent) Leg duplication-mirror foot syndrome A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. Orphanet ICD-10:Q74.8 UMLS:C4303758 Not applicable Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1757 Fibular dimelia-diplopodia syndrome ORPHA:1757 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303758 E (Exact mapping: the two concepts are equivalent) Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. Orphanet ICD-10:Q43.4 ICD-11:LD2F.1Y UMLS:C4518084 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1759 Thoraco-abdominal enteric duplication ORPHA:1759 ICD-10:Q43.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518084 E (Exact mapping: the two concepts are equivalent) Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission. Orphanet UMLS:C5681009 Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=176 Non-rhizomelic chondrodysplasia punctata Clinical group ORPHA:176 UMLS:C5681009 E (Exact mapping: the two concepts are equivalent) MECP2 duplication syndrome X-linked intellectual disability syndrome, Lubs type A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Orphanet ICD-10:Q99.8 ICD-11:LD51 MeSH:C537723 OMIM:300260 OMIM:300815 UMLS:C1846058 Antenatal Neonatal Australia AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1762 Proximal Xq28 duplication syndrome ORPHA:1762 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537723 E (Exact mapping: the two concepts are equivalent) OMIM:300260 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300815 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1846058 E (Exact mapping: the two concepts are equivalent) 20p13 RP46 ClinVar:IDH3B Ensembl:ENSG00000101365 Genatlas:IDH3B HGNC:5385 OMIM:604526 Reactome:O43837 SwissProt:O43837 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta HSAN3 Hereditary sensory and autonomic neuropathy type 3 Hereditary sensory and autonomic neuropathy type III Riley-Day syndrome A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy. Orphanet ICD-10:G90.1 ICD-11:8C21.1 MeSH:D004402 MedDRA:10039179 OMIM:223900 UMLS:C0013364 Autosomal recessive Childhood Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 18.5 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1764 Familial dysautonomia ORPHA:1764 ICD-10:G90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C21.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004402 E (Exact mapping: the two concepts are equivalent) MedDRA:10039179 E (Exact mapping: the two concepts are equivalent) OMIM:223900 E (Exact mapping: the two concepts are equivalent) UMLS:C0013364 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with increased bone density OBSOLETE: Dyschondrosteosis-nephritis syndrome ORPHA:1765 CAMRQ syndrome Cerebellar ataxia-intellectual disability-dysequilibrium syndrome Non-progressive cerebellar ataxia-intellectual disability syndrome UTS Uner Tan syndrome Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. Orphanet ICD-10:G11.8 MeSH:C535731 MedDRA:10013140 OMIM:224050 OMIM:610185 OMIM:613227 OMIM:615268 UMLS:C0394006 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 51.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1766 Dysequilibrium syndrome ORPHA:1766 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535731 E (Exact mapping: the two concepts are equivalent) MedDRA:10013140 E (Exact mapping: the two concepts are equivalent) OMIM:224050 E (Exact mapping: the two concepts are equivalent) OMIM:610185 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613227 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615268 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0394006 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant non-syndromic sensorineural deafness type DFNA OMIM:193005 Familial progressive vestibulocochlear dysfunction ORPHA:1767 OMIM:193005 E (Exact mapping: the two concepts are equivalent) Rudd-Klimek syndrome A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Orphanet ICD-10:Q87.8 MeSH:C535879 UMLS:C2931053 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1768 Familial caudal dysgenesis ORPHA:1768 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535879 E (Exact mapping: the two concepts are equivalent) UMLS:C2931053 E (Exact mapping: the two concepts are equivalent) RCDP A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures. Orphanet ICD-10:Q77.3 ICD-11:LD24.04 MeSH:D018902 OMIM:215100 OMIM:222765 OMIM:600121 OMIM:616716 UMLS:C0282529 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177 Rhizomelic chondrodysplasia punctata ORPHA:177 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018902 E (Exact mapping: the two concepts are equivalent) OMIM:215100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:222765 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600121 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616716 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0282529 E (Exact mapping: the two concepts are equivalent) A rare syndrome with 46,XY difference of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Orphanet ICD-10:Q99.1 MeSH:C565536 OMIM:233430 UMLS:C1856272 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1770 XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770 ICD-10:Q99.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565536 E (Exact mapping: the two concepts are equivalent) OMIM:233430 E (Exact mapping: the two concepts are equivalent) UMLS:C1856272 E (Exact mapping: the two concepts are equivalent) UMLS:C5680511 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177101 Rare adult hypothyroidism Category ORPHA:177101 UMLS:C5680511 E (Exact mapping: the two concepts are equivalent) UMLS:C5680512 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177107 Syndromic hypothyroidism Category ORPHA:177107 UMLS:C5680512 E (Exact mapping: the two concepts are equivalent) 45,X/46,XY MGD 45,X0/46,XY MGD 45,X0/46,XY mixed gonadal dysgenesis A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome. Orphanet ICD-10:Q98.7 ICD-11:LD2A.Y MeSH:D006060 UMLS:C0018055 Not applicable Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1772 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772 ICD-10:Q98.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006060 E (Exact mapping: the two concepts are equivalent) UMLS:C0018055 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Caudal regression syndrome Sacrococcygeal dysgenesis association ORPHA:1773 DC DKC Zinsser-Engman-Cole syndrome A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. Orphanet ICD-10:Q82.8 ICD-11:3A70.0 MeSH:D019871 MedDRA:10062759 OMIM:127550 OMIM:224230 OMIM:305000 OMIM:613987 OMIM:613988 OMIM:613989 OMIM:613990 OMIM:615190 OMIM:616353 OMIM:620040 OMIM:620133 UMLS:C0265965 Autosomal dominant Autosomal recessive X-linked recessive Adolescent Adult Childhood Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1775 Dyskeratosis congenita ORPHA:1775 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:3A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019871 E (Exact mapping: the two concepts are equivalent) MedDRA:10062759 E (Exact mapping: the two concepts are equivalent) OMIM:127550 E (Exact mapping: the two concepts are equivalent) OMIM:224230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613987 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613988 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613989 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615190 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616353 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620040 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620133 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265965 E (Exact mapping: the two concepts are equivalent) Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome Temtamy-Shalash syndrome A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Orphanet ICD-10:Q87.8 MeSH:C536959 OMIM:218340 UMLS:C1857512 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 56.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1777 Temtamy syndrome ORPHA:1777 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536959 E (Exact mapping: the two concepts are equivalent) OMIM:218340 E (Exact mapping: the two concepts are equivalent) UMLS:C1857512 E (Exact mapping: the two concepts are equivalent) Seaver-Cassidy syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Orphanet ICD-10:Q87.8 MeSH:C537529 UMLS:C2931522 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome ORPHA:1778 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537529 E (Exact mapping: the two concepts are equivalent) UMLS:C2931522 E (Exact mapping: the two concepts are equivalent) Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, <i>pectus excavatum</i>, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. Orphanet ICD-10:Q87.0 UMLS:C4706366 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1779 Dysmorphism-cleft palate-loose skin syndrome ORPHA:1779 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706366 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD90.3 OMIM:615547 UMLS:C5680507 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Etiological subtype ORPHA:177901 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615547 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680507 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD90.3 OMIM:615547 UMLS:C5680508 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Etiological subtype ORPHA:177904 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615547 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680508 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD90.3 OMIM:176270 UMLS:C5680509 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177907 Prader-Willi syndrome due to translocation Etiological subtype ORPHA:177907 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:176270 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680509 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD90.3 OMIM:176270 UMLS:C5680510 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177910 Prader-Willi syndrome due to imprinting mutation Etiological subtype ORPHA:177910 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:176270 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680510 E (Exact mapping: the two concepts are equivalent) A rare bleeding disorder in association with carrier mutations in the <i>F8</i> gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers. Orphanet ICD-10:D66 ICD-11:3B10.0 OMIM:306700 UMLS:C5680504 X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177926 Bleeding disorder in hemophilia A carriers Clinical subtype ORPHA:177926 ICD-10:D66 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:306700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680504 E (Exact mapping: the two concepts are equivalent) A rare bleeding disorder in association with carrier mutations in the <i>F9</i> gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers. Orphanet ICD-10:D67 ICD-11:3B11.0 OMIM:306900 UMLS:C5680505 X-linked recessive Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=177929 Bleeding disorder in hemophilia B carriers Clinical subtype ORPHA:177929 ICD-10:D67 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:306900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680505 E (Exact mapping: the two concepts are equivalent) Notochordal sarcoma Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. Orphanet ICD-10:C76.7 ICD-11:2B5J MeSH:D002817 MedDRA:10008747 OMIM:215400 UMLS:C0008487 Autosomal dominant Not applicable Adult United States AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178 Chordoma ORPHA:178 ICD-10:C76.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B5J - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D002817 E (Exact mapping: the two concepts are equivalent) MedDRA:10008747 E (Exact mapping: the two concepts are equivalent) OMIM:215400 E (Exact mapping: the two concepts are equivalent) UMLS:C0008487 E (Exact mapping: the two concepts are equivalent) Dysmorphism-multiple structural anomalies syndrome A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q87.8 MeSH:C536503 OMIM:227255 UMLS:C2931219 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1780 Thakker-Donnai syndrome ORPHA:1780 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536503 E (Exact mapping: the two concepts are equivalent) OMIM:227255 E (Exact mapping: the two concepts are equivalent) UMLS:C2931219 E (Exact mapping: the two concepts are equivalent) UMLS:C5680506 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations Category ORPHA:178025 UMLS:C5680506 E (Exact mapping: the two concepts are equivalent) CDI Neurogenic diabetes insipidus Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms). Orphanet ICD-10:E23.2 ICD-11:5A61.5 MeSH:D020790 MedDRA:10068587 OMIM:125700 OMIM:304900 UMLS:C0687720 Autosomal dominant Autosomal recessive X-linked dominant Childhood Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178029 Arginine vasopressin deficiency ORPHA:178029 ICD-10:E23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020790 E (Exact mapping: the two concepts are equivalent) MedDRA:10068587 E (Exact mapping: the two concepts are equivalent) OMIM:125700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:304900 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0687720 E (Exact mapping: the two concepts are equivalent) ICD-11:5A92 UMLS:C5680513 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178040 Rare peripheral precocious puberty Category ORPHA:178040 ICD-11:5A92 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680513 E (Exact mapping: the two concepts are equivalent) ICD-11:5A00.03 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178045 Transient congenital hypothyroidism Clinical group ORPHA:178045 ICD-11:5A00.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 6p21.1 CILD12 FLJ30845 ClinVar:RSPH9 Ensembl:ENSG00000172426 Genatlas:RSPH9 HGNC:21057 OMIM:612648 SwissProt:Q9H1X1 RSPH9 radial spoke head component 9 6q22.1 CILD11 FLJ37974 RSPH6B dJ412I7.1 ClinVar:RSPH4A Ensembl:ENSG00000111834 Genatlas:RSPH4A HGNC:21558 OMIM:612647 SwissProt:Q5TD94 RSPH4A radial spoke head component 4A 7q22.1 AP-1 complex subunit sigma-1A AP19 HA1 19 kDa subunit SIGMA1A WUGSC:H_DJ0747G18.2 clathrin assembly protein complex 1 sigma-1A small chain clathrin coat assembly protein AP19 clathrin-associated/assembly/adaptor protein, small 1 (19kD) golgi adaptor HA1/AP1 adaptin sigma-1A subunit sigma1A subunit of AP-1 clathrin adaptor complex sigma1A-adaptin ClinVar:AP1S1 Ensembl:ENSG00000106367 Genatlas:AP1S1 HGNC:559 OMIM:603531 Reactome:P61966 SwissProt:P61966 AP1S1 adaptor related protein complex 1 subunit sigma 1 16q23.1 FAAH FLJ25287 Fatty acid alpha-hydroxylase fatty acid hydroxylase ClinVar:FA2H Ensembl:ENSG00000103089 Genatlas:FA2H HGNC:21197 OMIM:611026 Reactome:Q7L5A8 SwissProt:Q7L5A8 FA2H fatty acid 2-hydroxylase ICD-10:G71.2 ICD-11:8C72.0Y MeSH:C566147 OMIM:117000 UMLS:C1861753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178145 Moderate multiminicore disease with hand involvement Clinical subtype ORPHA:178145 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566147 E (Exact mapping: the two concepts are equivalent) OMIM:117000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1861753 E (Exact mapping: the two concepts are equivalent) ICD-10:G71.2 ICD-11:8C72.0Y MeSH:C537474 UMLS:C1843691 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita Clinical subtype ORPHA:178148 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537474 E (Exact mapping: the two concepts are equivalent) UMLS:C1843691 E (Exact mapping: the two concepts are equivalent) A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly. Orphanet ICD-10:Q78.8 ICD-11:LD24.1Y MeSH:C562973 OMIM:224300 UMLS:C0432262 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1782 Dysosteosclerosis ORPHA:1782 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562973 E (Exact mapping: the two concepts are equivalent) OMIM:224300 E (Exact mapping: the two concepts are equivalent) UMLS:C0432262 E (Exact mapping: the two concepts are equivalent) Monosomy 8q22.1 Nablus mask-like facial syndrome The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Orphanet ICD-10:Q93.5 ICD-11:LD44.80 MeSH:C536110 OMIM:608156 UMLS:C1842464 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178303 8q22.1 microdeletion syndrome ORPHA:178303 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536110 E (Exact mapping: the two concepts are equivalent) OMIM:608156 E (Exact mapping: the two concepts are equivalent) UMLS:C1842464 E (Exact mapping: the two concepts are equivalent) RAK A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti. Orphanet ICD-10:L81.8 OMIM:615537 UMLS:C0406811 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 130.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178307 Reticulate acropigmentation of Kitamura ORPHA:178307 ICD-10:L81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615537 E (Exact mapping: the two concepts are equivalent) UMLS:C0406811 E (Exact mapping: the two concepts are equivalent) Isolated SCCH Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. Orphanet ICD-10:M85.8 UMLS:C4707796 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178311 Isolated sternocostoclavicular hyperostosis ORPHA:178311 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707796 E (Exact mapping: the two concepts are equivalent) Embryonal sarcoma of the liver UES Undifferentiated sarcoma of the liver Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. Orphanet ICD-10:C49.9 ICD-11:2B55.Y UMLS:C2205345 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178315 Undifferentiated embryonal sarcoma of the liver ORPHA:178315 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B55.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2205345 E (Exact mapping: the two concepts are equivalent) ICD-10:S27.3 MeSH:D055371 MedDRA:10069351 UMLS:C0242488 Not applicable All ages Australia AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 65.0 AND has_annual_incidence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178320 Acute lung injury ORPHA:178320 ICD-10:S27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D055371 E (Exact mapping: the two concepts are equivalent) MedDRA:10069351 E (Exact mapping: the two concepts are equivalent) UMLS:C0242488 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare hemolytic anemia OBSOLETE: Heinz body anemia ORPHA:178330 AIED Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. Orphanet ICD-10:H35.5 ICD-11:9B7Y MeSH:C562664 OMIM:300600 UMLS:C0268505 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178333 Åland Islands eye disease ORPHA:178333 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562664 E (Exact mapping: the two concepts are equivalent) OMIM:300600 E (Exact mapping: the two concepts are equivalent) UMLS:C0268505 E (Exact mapping: the two concepts are equivalent) A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive. Orphanet ICD-10:L56.8 MeSH:C563466 OMIM:600630 OMIM:614621 OMIM:614640 UMLS:C1833561 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178338 UV-sensitive syndrome ORPHA:178338 ICD-10:L56.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563466 E (Exact mapping: the two concepts are equivalent) OMIM:600630 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614621 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614640 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1833561 E (Exact mapping: the two concepts are equivalent) Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction. Orphanet ICD-10:D48.7 ICD-11:2E92.1 ICD-11:2F30.Y MedDRA:10067917 UMLS:C0334121 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178342 Inflammatory myofibroblastic tumor ORPHA:178342 ICD-10:D48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E92.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2F30.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10067917 E (Exact mapping: the two concepts are equivalent) UMLS:C0334121 E (Exact mapping: the two concepts are equivalent) AEXS Familial hyperestrogenism Hereditary prepubertal gynecomastia A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. Orphanet ICD-10:E30.1 ICD-11:5A92 MeSH:C000591739 OMIM:139300 UMLS:C1970109 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178345 Aromatase excess syndrome ORPHA:178345 ICD-10:E30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A92 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000591739 E (Exact mapping: the two concepts are equivalent) OMIM:139300 E (Exact mapping: the two concepts are equivalent) UMLS:C1970109 E (Exact mapping: the two concepts are equivalent) Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C564589 OMIM:607326 OMIM:615222 UMLS:C1846431 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178355 Smith-McCort dysplasia ORPHA:178355 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564589 E (Exact mapping: the two concepts are equivalent) OMIM:607326 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615222 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1846431 E (Exact mapping: the two concepts are equivalent) MCOPS5 Syndromic microphthalmia/anophthalmia due to OTX2 mutation Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Orphanet ICD-10:Q11.2 ICD-11:LD21.0 MeSH:C566441 OMIM:610125 UMLS:C1864690 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178364 Syndromic microphthalmia type 5 ORPHA:178364 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566441 E (Exact mapping: the two concepts are equivalent) OMIM:610125 E (Exact mapping: the two concepts are equivalent) UMLS:C1864690 E (Exact mapping: the two concepts are equivalent) This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term). Orphanet ICD-10:Q75.8 ICD-11:LD2F.1Y UMLS:C4302818 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178377 Osteosclerosis-developmental delay-craniosynostosis syndrome ORPHA:178377 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302818 E (Exact mapping: the two concepts are equivalent) Congenital convex foot Congenital convex pes valgus Congenital rocker-bottom foot Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. Orphanet ICD-10:Q66.8 ICD-11:LB98.4 MedDRA:10066242 OMIM:192950 UMLS:C0240912 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178382 Congenital vertical talus ORPHA:178382 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB98.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066242 E (Exact mapping: the two concepts are equivalent) OMIM:192950 E (Exact mapping: the two concepts are equivalent) UMLS:C0240912 E (Exact mapping: the two concepts are equivalent) Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia Autosomal recessive osteopetrosis type 7 Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. Orphanet ICD-10:Q78.2 ICD-11:4A01.0Y OMIM:612301 UMLS:C4751205 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178389 Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612301 E (Exact mapping: the two concepts are equivalent) UMLS:C4751205 E (Exact mapping: the two concepts are equivalent) A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation. Orphanet ICD-10:D68.8 ICD-11:5C5A OMIM:613490 UMLS:C5190706 Autosomal dominant Not applicable Adolescent Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation ORPHA:178396 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C5A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613490 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190706 E (Exact mapping: the two concepts are equivalent) Richieri-Costa-Colletto syndrome A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. Orphanet ICD-10:Q75.1 ICD-11:LD25.3 MeSH:C538186 OMIM:201180 UMLS:C1860118 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1784 Acrofrontofacionasal dysostosis ORPHA:1784 ICD-10:Q75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538186 E (Exact mapping: the two concepts are equivalent) OMIM:201180 E (Exact mapping: the two concepts are equivalent) UMLS:C1860118 E (Exact mapping: the two concepts are equivalent) Distal anterior compartment myopathy A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent. Orphanet ICD-10:G71.0 ICD-11:8C75 MeSH:C564664 OMIM:606768 UMLS:C1847532 Adolescent Adult Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178400 Distal myopathy with anterior tibial onset ORPHA:178400 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564664 E (Exact mapping: the two concepts are equivalent) OMIM:606768 E (Exact mapping: the two concepts are equivalent) UMLS:C1847532 E (Exact mapping: the two concepts are equivalent) XMPMA A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. Orphanet ICD-10:G71.0 ICD-11:8C70.Y OMIM:300696 UMLS:C2678055 X-linked recessive Adult Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178461 X-linked myopathy with postural muscle atrophy ORPHA:178461 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300696 E (Exact mapping: the two concepts are equivalent) UMLS:C2678055 E (Exact mapping: the two concepts are equivalent) Edström Myopathy HIBM-ERF HMERF Hereditary inclusion body myopathy with early respiratory failure MFM-titinopathy Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-titinopathy A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles. Orphanet ICD-10:G71.0 ICD-11:8C70.Y MeSH:C566343 OMIM:603689 UMLS:C1863599 Autosomal dominant Adult Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178464 Hereditary myopathy with early respiratory failure ORPHA:178464 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566343 E (Exact mapping: the two concepts are equivalent) OMIM:603689 E (Exact mapping: the two concepts are equivalent) UMLS:C1863599 E (Exact mapping: the two concepts are equivalent) ICD-10:F70 ICD-10:F71 ICD-10:F72 ICD-10:F73 ICD-11:LD90.Y OMIM:156200 OMIM:612580 OMIM:612581 OMIM:613970 OMIM:614113 OMIM:614254 OMIM:614255 OMIM:614256 OMIM:614257 OMIM:614563 OMIM:615828 OMIM:616393 OMIM:616579 OMIM:616977 OMIM:617796 OMIM:617798 OMIM:617799 OMIM:617854 OMIM:618095 OMIM:618106 OMIM:618330 OMIM:619188 OMIM:620114 OMIM:620157 UMLS:C5680502 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178469 Autosomal dominant non-syndromic intellectual disability Etiological subtype ORPHA:178469 ICD-10:F70 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F71 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F72 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F73 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:156200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612580 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612581 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613970 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614113 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614254 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614255 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614256 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614257 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614563 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615828 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616393 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616579 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616977 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617796 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617798 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617799 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617854 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618095 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618106 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618330 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619188 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620114 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620157 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680502 E (Exact mapping: the two concepts are equivalent) Cutaneous infectious botulism Cutaneous toxin-mediated botulism Inoculation botulism Skin infectious botulism Skin toxin-mediated botulism Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by <i>Clostridium botulinum</i>. Orphanet ICD-10:A05.1 ICD-11:1A11.1 UMLS:C1306794 All ages Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178475 Wound botulism Etiological subtype ORPHA:178475 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1306794 E (Exact mapping: the two concepts are equivalent) Infant intestinal botulism Infant intestinal toxemia botulism Infant intestinal toxin-mediated botulism Infantile botulism A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. Orphanet ICD-10:A05.1 ICD-11:1A11.1 UMLS:C0238027 Infancy Neonatal Argentina AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178478 Infant botulism Clinical subtype ORPHA:178478 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0238027 E (Exact mapping: the two concepts are equivalent) Intestinal colonization botulism Intestinal toxemia botulism Intestinal toxin-mediated botulism A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). Orphanet ICD-10:A05.1 ICD-11:1A11.1 UMLS:C1443901 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178481 Intestinal botulism Clinical subtype ORPHA:178481 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A11.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1443901 E (Exact mapping: the two concepts are equivalent) Adult intestinal colonization botulism Adult intestinal toxemia botulism Adult intestinal toxin-mediated botulism Infant-like botulism A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. Orphanet ICD-10:A05.1 ICD-11:1A11.1 UMLS:C4289991 Adult Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178487 Adult intestinal botulism Clinical subtype ORPHA:178487 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4289991 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Myopic maculopathy This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Myopic macular degeneration ORPHA:178493 Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency UMLS:C2751630 Dursun syndrome ORPHA:178503 UMLS:C2751630 E (Exact mapping: the two concepts are equivalent) A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. Orphanet ICD-10:G93.8 ICD-11:LD20.4 OMIM:613658 OMIM:619013 UMLS:C3150910 Autosomal recessive Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178506 Brain calcification, Rajab type ORPHA:178506 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613658 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619013 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3150910 E (Exact mapping: the two concepts are equivalent) Parkinsonism with alveolar hypoventilation and mental depression A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. Orphanet ICD-10:G23.8 ICD-11:8A00.1Y MeSH:C566822 MedDRA:10079207 OMIM:168605 UMLS:C1868594 Autosomal dominant Adult Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178509 Perry syndrome ORPHA:178509 ICD-10:G23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566822 E (Exact mapping: the two concepts are equivalent) MedDRA:10079207 E (Exact mapping: the two concepts are equivalent) OMIM:168605 E (Exact mapping: the two concepts are equivalent) UMLS:C1868594 E (Exact mapping: the two concepts are equivalent) Mycosis fungoides-associated follicular mucinosis A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area. Orphanet ICD-10:C84.0 ICD-11:2B01 UMLS:C1627767 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178512 Folliculotropic mycosis fungoides ORPHA:178512 ICD-10:C84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1627767 E (Exact mapping: the two concepts are equivalent) Pagetoid reticulosis, Woringer-Kolopp type A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity. Orphanet ICD-10:C84.0 ICD-11:2B01 MeSH:D056267 UMLS:C1276140 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178517 Localized pagetoid reticulosis ORPHA:178517 ICD-10:C84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D056267 E (Exact mapping: the two concepts are equivalent) UMLS:C1276140 E (Exact mapping: the two concepts are equivalent) A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils. Orphanet ICD-10:C84.8 UMLS:C5680503 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522 ICD-10:C84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680503 E (Exact mapping: the two concepts are equivalent) Berti lymphoma Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared. Orphanet ICD-10:C84.5 ICD-11:2B0Y UMLS:C4518232 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528 ICD-10:C84.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518232 E (Exact mapping: the two concepts are equivalent) Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. Orphanet ICD-10:C84.4 ICD-11:2B0Y UMLS:C1707547 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178533 Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533 ICD-10:C84.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1707547 E (Exact mapping: the two concepts are equivalent) PCMZL A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains. Orphanet ICD-10:C83.0 ICD-11:2A85.2 UMLS:C1275321 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178536 Primary cutaneous marginal zone B-cell lymphoma ORPHA:178536 ICD-10:C83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A85.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1275321 E (Exact mapping: the two concepts are equivalent) PCFCL A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2. Orphanet ICD-10:C82.6 ICD-11:2A80.3 UMLS:C1333171 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178540 Primary cutaneous follicle center lymphoma ORPHA:178540 ICD-10:C82.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1333171 E (Exact mapping: the two concepts are equivalent) PCDLBCL,LT A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10. Orphanet ICD-10:C83.3 ICD-11:2A81.A UMLS:C1709656 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178544 Primary cutaneous diffuse large B-cell lymphoma, leg type ORPHA:178544 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A81.A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1709656 E (Exact mapping: the two concepts are equivalent) UMLS:C5680498 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178548 Indolent primary cutaneous T-cell lymphoma Clinical group ORPHA:178548 UMLS:C5680498 E (Exact mapping: the two concepts are equivalent) UMLS:C5680497 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178551 Aggressive primary cutaneous T-cell lymphoma Clinical group ORPHA:178551 UMLS:C5680497 E (Exact mapping: the two concepts are equivalent) UMLS:C5680500 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178554 Aggressive primary cutaneous B-cell lymphoma Clinical group ORPHA:178554 UMLS:C5680500 E (Exact mapping: the two concepts are equivalent) UMLS:C5680499 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178557 Indolent primary cutaneous B-cell lymphoma Clinical group ORPHA:178557 UMLS:C5680499 E (Exact mapping: the two concepts are equivalent) MedDRA:10085518 UMLS:C1274310 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178563 Primary cutaneous B-cell lymphoma Category ORPHA:178563 MedDRA:10085518 E (Exact mapping: the two concepts are equivalent) UMLS:C1274310 E (Exact mapping: the two concepts are equivalent) A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course. Orphanet ICD-10:C84.0 ICD-11:2B01 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.59 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178566 Mycosis fungoides and variants Clinical group ORPHA:178566 ICD-10:C84.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Opitz-Caltabiano syndrome A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MeSH:C538182 OMIM:101805 UMLS:C2931762 Autosomal dominant X-linked dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1786 Acrofacial dysostosis, Catania type ORPHA:1786 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538182 E (Exact mapping: the two concepts are equivalent) OMIM:101805 E (Exact mapping: the two concepts are equivalent) UMLS:C2931762 E (Exact mapping: the two concepts are equivalent) A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MeSH:C538185 OMIM:601829 UMLS:C1866168 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1787 Acrofacial dysostosis, Palagonia type ORPHA:1787 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538185 E (Exact mapping: the two concepts are equivalent) OMIM:601829 E (Exact mapping: the two concepts are equivalent) UMLS:C1866168 E (Exact mapping: the two concepts are equivalent) 1q21.2 DKFZP434K1772 ClinVar:ADAMTSL4 Ensembl:ENSG00000143382 Genatlas:ADAMTSL4 HGNC:19706 OMIM:610113 Reactome:Q6UY14 SwissProt:Q6UY14 ADAMTSL4 ADAMTS like 4 2q11.2 KIAA1592 ClinVar:CNNM4 Ensembl:ENSG00000158158 Genatlas:CNNM4 HGNC:105 OMIM:607805 Reactome:Q6P4Q7 SwissProt:Q6P4Q7 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MeSH:C538183 OMIM:201170 UMLS:C1860119 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1788 Acrofacial dysostosis, Rodríguez type ORPHA:1788 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538183 E (Exact mapping: the two concepts are equivalent) OMIM:201170 E (Exact mapping: the two concepts are equivalent) UMLS:C1860119 E (Exact mapping: the two concepts are equivalent) 19q13.2 HAI-2 HAI2 HGF activator inhibitor 2 Kop Kunitz domain containing protein overexpressed in pancreatic cancer hepatocyte growth factor activator inhibitor-2 placental bikunin ClinVar:SPINT2 Ensembl:ENSG00000167642 Genatlas:SPINT2 HGNC:11247 OMIM:605124 Reactome:O43291 SwissProt:O43291 SPINT2 serine peptidase inhibitor, Kunitz type 2 11q13.1 KIND3 MGC10966 MIG-2 MIG2B UNC-112 related protein 2 UNC112C URP2 kindlin-3 ClinVar:FERMT3 Ensembl:ENSG00000149781 Genatlas:FERMT3 HGNC:23151 OMIM:607901 Reactome:Q86UX7 SwissProt:Q86UX7 FERMT3 FERM domain containing kindlin 3 12q13.3 LncZBTB39 LncZBTB39-1:2 NK3 NKB ZNEUROK1 preprotachykinin-B ClinVar:TAC3 Ensembl:ENSG00000166863 Genatlas:TAC3 HGNC:11521 OMIM:162330 Reactome:Q9UHF0 SwissProt:Q9UHF0 TAC3 tachykinin precursor 3 4q24 NK3 NK3 receptor NK3R NKR TAC3R neurokinin B receptor neurokinin beta receptor neuromedin-K receptor ClinVar:TACR3 Ensembl:ENSG00000169836 Genatlas:TACR3 HGNC:11528 IUPHAR:362 OMIM:162332 Reactome:P29371 SwissProt:P29371 TACR3 tachykinin receptor 3 8p11.21 4833431A01Rik FLJ10477 ClinVar:THAP1 Ensembl:ENSG00000131931 Genatlas:THAP1 HGNC:20856 OMIM:609520 Reactome:Q9NVV9 SwissProt:Q9NVV9 THAP1 THAP domain containing 1 14q31.3 HSD3 ClinVar:SPATA7 Ensembl:ENSG00000042317 Genatlas:SPATA7 HGNC:20423 OMIM:609868 SwissProt:Q9P0W8 SPATA7 spermatogenesis associated 7 OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome ORPHA:1789 Immunologic neutropenia ICD-11:4B00.01 UMLS:C4543729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=178996 Acquired neutropenia Category ORPHA:178996 ICD-11:4B00.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4543729 E (Exact mapping: the two concepts are equivalent) Birdshot chorioretinitis Birdshot retinochoroiditis Birdshot retinochoroidopathy Vitiliginous choroiditis Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. Orphanet ICD-10:H30.1 ICD-11:9B65.0 MeSH:D000080365 MedDRA:10072959 OMIM:605808 UMLS:C1853959 Unknown Adult Elderly United States AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=179 Birdshot chorioretinopathy ORPHA:179 ICD-10:H30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000080365 E (Exact mapping: the two concepts are equivalent) MedDRA:10072959 E (Exact mapping: the two concepts are equivalent) OMIM:605808 E (Exact mapping: the two concepts are equivalent) UMLS:C1853959 E (Exact mapping: the two concepts are equivalent) Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Orphanet ICD-10:Q75.4 MeSH:C537154 OMIM:241310 UMLS:C1855848 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1790 Hypomandibular faciocranial dysostosis ORPHA:1790 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537154 E (Exact mapping: the two concepts are equivalent) OMIM:241310 E (Exact mapping: the two concepts are equivalent) UMLS:C1855848 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01 UMLS:C5680501 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=179006 Primary immunodeficiency due to a defect in adaptive immunity Category ORPHA:179006 ICD-11:4A01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680501 E (Exact mapping: the two concepts are equivalent) Gollop syndrome A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Orphanet ICD-10:Q75.8 ICD-11:LD25.3 MeSH:C538063 OMIM:229400 UMLS:C2931720 Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1791 Frontofacionasal dysplasia ORPHA:1791 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538063 E (Exact mapping: the two concepts are equivalent) OMIM:229400 E (Exact mapping: the two concepts are equivalent) UMLS:C2931720 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to CHST3-related skeletal dysplasia Humerospinal dysostosis ORPHA:1792 Richieri-Costa-Gorlin syndrome Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. Orphanet ICD-10:Q75.1 ICD-11:LD25.3 MeSH:C537736 UMLS:C1838348 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1794 Oculomaxillofacial dysostosis ORPHA:1794 ICD-10:Q75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537736 E (Exact mapping: the two concepts are equivalent) UMLS:C1838348 E (Exact mapping: the two concepts are equivalent) 3q11.1-q11.2 DKFZp761H079 JBTS8 ClinVar:ARL13B Ensembl:ENSG00000169379 Genatlas:ARL13B HGNC:25419 OMIM:608922 Reactome:Q3SXY8 SwissProt:Q3SXY8 ARL13B ADP ribosylation factor like GTPase 13B 1p13.3 KIAA0976 Lmnt1 NetG1 Netrin-G1 NetrinG1 laminet-1 netrin G1f ClinVar:NTNG1 Ensembl:ENSG00000162631 Genatlas:NTNG1 HGNC:23319 OMIM:608818 Reactome:Q9Y2I2 SwissProt:Q9Y2I2 NTNG1 netrin G1 11q24.3 CAP3 HAI MT-SP1 SNC19 TMPRSS14 channel–activating protein 3 epithin matriptase ClinVar:ST14 Ensembl:ENSG00000149418 Genatlas:ST14 HGNC:11344 IUPHAR:2418 OMIM:606797 Reactome:Q9Y5Y6 SwissProt:Q9Y5Y6 ST14 ST14 transmembrane serine protease matriptase 13q13.1 KLA alpha-klotho ClinVar:KL Ensembl:ENSG00000133116 Genatlas:KL HGNC:6344 IUPHAR:3146 OMIM:604824 Reactome:Q9UEF7 SwissProt:Q9UEF7 KL klotho 20p12.3 ClinVar:BMP2 Ensembl:ENSG00000125845 Genatlas:BMP2 HGNC:1069 OMIM:112261 Reactome:P12643 SwissProt:P12643 BMP2 bone morphogenetic protein 2 16p11.2 Clabp TACO HCORO1 coronin-1 p57 ClinVar:CORO1A Ensembl:ENSG00000102879 Genatlas:CORO1A HGNC:2252 OMIM:605000 Reactome:P31146 SwissProt:P31146 CORO1A coronin 1A ICD-10:E66.8 ICD-11:5B81.Y UMLS:C5680486 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=179490 Obesity due to congenital leptin resistance Etiological subtype ORPHA:179490 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680486 E (Exact mapping: the two concepts are equivalent) A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency. Orphanet ICD-10:E66.8 ICD-11:5B81.Y OMIM:614963 UMLS:C5191640 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=179494 Obesity due to leptin receptor gene deficiency Etiological subtype ORPHA:179494 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614963 E (Exact mapping: the two concepts are equivalent) UMLS:C5191640 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acrodysostosis OBSOLETE: Peripheral dysostosis ORPHA:1795 Autosomal dominant spondylocostal dysplasia A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. Orphanet ICD-10:Q76.4 ICD-11:LD24.H OMIM:122600 UMLS:C4274761 Autosomal dominant No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1797 Autosomal dominant spondylocostal dysostosis ORPHA:1797 ICD-10:Q76.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.H - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:122600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4274761 E (Exact mapping: the two concepts are equivalent) Autosomal dominant osteosclerosis, Stanescu type Dysostosis, Stanescu type Stanescu osteosclerosis A rare primary bone dysplasia with increased bone density characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q78.8 ICD-11:LD24.1Y MeSH:C562974 OMIM:122900 UMLS:C0432263 Autosomal dominant Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome ORPHA:1798 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562974 E (Exact mapping: the two concepts are equivalent) OMIM:122900 E (Exact mapping: the two concepts are equivalent) UMLS:C0432263 E (Exact mapping: the two concepts are equivalent) Billard-Toutain-Maheut syndrome FOXP2-associated dysphasia Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. Orphanet ICD-10:F80.1 MeSH:C563997 OMIM:600117 UMLS:C1838630 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1799 Familial developmental dysphasia ORPHA:1799 ICD-10:F80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563997 E (Exact mapping: the two concepts are equivalent) OMIM:600117 E (Exact mapping: the two concepts are equivalent) UMLS:C1838630 E (Exact mapping: the two concepts are equivalent) Classic RTA Familial distal primary acidosis Renal tubular acidosis type 1 dRTA A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia. Orphanet ICD-10:N25.8 ICD-11:GB90.44 MedDRA:10045224 OMIM:179800 OMIM:267300 OMIM:602722 OMIM:611590 UMLS:C1704380 Autosomal dominant Autosomal recessive Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=18 Distal renal tubular acidosis ORPHA:18 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10045224 E (Exact mapping: the two concepts are equivalent) OMIM:179800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:267300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602722 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611590 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1704380 E (Exact mapping: the two concepts are equivalent) CHM Tapetochoroidal dystrophy Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. Orphanet ICD-10:H31.2 ICD-11:9B61 MeSH:D015794 MedDRA:10008791 OMIM:303100 UMLS:C0008525 X-linked recessive Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180 Choroideremia ORPHA:180 ICD-10:H31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015794 E (Exact mapping: the two concepts are equivalent) MedDRA:10008791 E (Exact mapping: the two concepts are equivalent) OMIM:303100 E (Exact mapping: the two concepts are equivalent) UMLS:C0008525 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Bazopoulou-Kyrkanidou syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with decreased bone density OBSOLETE: Craniofaciocervical osteoglyphic dysplasia ORPHA:1800 UMLS:C5680488 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180062 Uterovaginal malformation Category ORPHA:180062 UMLS:C5680488 E (Exact mapping: the two concepts are equivalent) UMLS:C5680487 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180065 Non-syndromic uterovaginal malformation Category ORPHA:180065 UMLS:C5680487 E (Exact mapping: the two concepts are equivalent) Incomplete bilateral aplasia of the Müllerian ducts UMLS:C5679589 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180068 Partial bilateral aplasia of the Müllerian ducts Clinical group ORPHA:180068 UMLS:C5679589 E (Exact mapping: the two concepts are equivalent) Unicornuate uterus ICD-10:Q51.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180071 Unilateral aplasia of the Müllerian ducts Clinical group ORPHA:180071 ICD-10:Q51.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Complete unilateral Müllerian aplasia Complete unilateral aplasia of the Müllerian ducts Unicornuate uterus without rudimentary horn A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated. Orphanet ICD-10:Q51.4 ICD-11:LB44.2 UMLS:C0266389 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180074 True unicornuate uterus ORPHA:180074 ICD-10:Q51.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266389 E (Exact mapping: the two concepts are equivalent) Incomplete unilateral Müllerian aplasia Incomplete unilateral aplasia of the Müllerian ducts Unicornuate uterus with rudimentary horn A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. Orphanet ICD-10:Q51.4 ICD-11:LB44.2 UMLS:C4749300 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180079 Pseudounicornuate uterus ORPHA:180079 ICD-10:Q51.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749300 E (Exact mapping: the two concepts are equivalent) Bicervical bicornuate uterus A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis. Orphanet ICD-10:Q51.1 ICD-11:LB44.3 MeSH:D000093642 MedDRA:10012770 UMLS:C0266393 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180086 Didelphys uterus ORPHA:180086 ICD-10:Q51.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000093642 E (Exact mapping: the two concepts are equivalent) MedDRA:10012770 E (Exact mapping: the two concepts are equivalent) UMLS:C0266393 E (Exact mapping: the two concepts are equivalent) A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age. Orphanet ICD-10:Q79.8 ICD-11:LD24.C MeSH:C538128 OMIM:211350 UMLS:C0432239 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1801 Kyphomelic dysplasia ORPHA:1801 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538128 E (Exact mapping: the two concepts are equivalent) OMIM:211350 E (Exact mapping: the two concepts are equivalent) UMLS:C0432239 E (Exact mapping: the two concepts are equivalent) ICD-10:Q51.1 ICD-11:LB44.3 UMLS:C5680489 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180106 Bicervical bicornuate uterus and blind hemivagina Clinical subtype ORPHA:180106 ICD-10:Q51.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680489 E (Exact mapping: the two concepts are equivalent) ICD-10:Q51.1 ICD-11:LB44.3 UMLS:C5680491 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180111 Bicervical bicornuate uterus with patent cervix and vagina Clinical subtype ORPHA:180111 ICD-10:Q51.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680491 E (Exact mapping: the two concepts are equivalent) A rare non-syndromic uterine malformation characterized by a uterus with two uterine horns and only one cervix, resulting from a failure in the fusion of the two Müllerian structures. Depending on the degree of the fusion deficiency, the malformation may be complete with the cavities separated up to the internal orifice of the cervix and not linked, or partial when there is some linkage. Patients may present recurrent pregnancy loss or preterm labor. Orphanet ICD-10:Q51.3 ICD-11:LB44.3 UMLS:C5680490 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180114 Unicervical bicornuate uterus ORPHA:180114 ICD-10:Q51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680490 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Uterus arcuatus NON RARE IN EUROPE: Uterus cordiformis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cordiform uterus ORPHA:180118 ICD-11:LB44.4 MeSH:D000093665 MedDRA:10062606 UMLS:C0152240 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180122 Septate uterus Clinical group ORPHA:180122 ICD-11:LB44.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000093665 E (Exact mapping: the two concepts are equivalent) MedDRA:10062606 E (Exact mapping: the two concepts are equivalent) UMLS:C0152240 E (Exact mapping: the two concepts are equivalent) Total septate uterus Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent. Orphanet ICD-10:Q51.2 ICD-11:LB44.4 UMLS:C2957116 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180126 Complete septate uterus ORPHA:180126 ICD-10:Q51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2957116 E (Exact mapping: the two concepts are equivalent) Subtotal septate uterus Uterus subseptus Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated. Orphanet ICD-10:Q51.2 ICD-11:LB44.4 UMLS:C0266401 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180129 Partial septate uterus ORPHA:180129 ICD-10:Q51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266401 E (Exact mapping: the two concepts are equivalent) ICD-10:Q51.3 ICD-11:LB44.3 MeSH:D000093663 MedDRA:10004550 UMLS:C0266387 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180134 Bicornuate uterus Clinical group ORPHA:180134 ICD-10:Q51.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB44.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000093663 E (Exact mapping: the two concepts are equivalent) MedDRA:10004550 E (Exact mapping: the two concepts are equivalent) UMLS:C0266387 E (Exact mapping: the two concepts are equivalent) A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility. Orphanet ICD-10:Q51.8 ICD-11:LB44.1 MedDRA:10063146 UMLS:C0266399 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180139 Uterine hypoplasia ORPHA:180139 ICD-10:Q51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB44.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10063146 E (Exact mapping: the two concepts are equivalent) UMLS:C0266399 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility. Orphanet ICD-10:Q51.0 ICD-11:LB44.0 UMLS:C5230999 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180142 Absence of uterine body ORPHA:180142 ICD-10:Q51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5230999 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. Orphanet ICD-10:Q51.5 ICD-11:LB43.1 UMLS:C5190813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180145 Uterine cervical aplasia and agenesis ORPHA:180145 ICD-10:Q51.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB43.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5190813 E (Exact mapping: the two concepts are equivalent) UMLS:C5680492 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180148 Syndromic uterovaginal malformation Category ORPHA:180148 UMLS:C5680492 E (Exact mapping: the two concepts are equivalent) UMLS:C5680493 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180151 Rare vaginal malformation Category ORPHA:180151 UMLS:C5680493 E (Exact mapping: the two concepts are equivalent) A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum. Orphanet ICD-10:Q52.1 ICD-11:LB42.1 UMLS:C0266411 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180154 Septate vagina ORPHA:180154 ICD-10:Q52.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB42.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0266411 E (Exact mapping: the two concepts are equivalent) A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities. Orphanet ICD-10:Q52.1 ICD-11:LB42.1 UMLS:C1841680 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180157 Longitudinal vaginal septum Clinical subtype ORPHA:180157 ICD-10:Q52.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB42.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1841680 E (Exact mapping: the two concepts are equivalent) A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea. Orphanet ICD-10:Q52.1 ICD-11:LB42.1 UMLS:C1856006 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180160 Transverse vaginal septum Clinical subtype ORPHA:180160 ICD-10:Q52.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB42.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1856006 E (Exact mapping: the two concepts are equivalent) UMLS:C5680494 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180163 Rare breast malformation Category ORPHA:180163 UMLS:C5680494 E (Exact mapping: the two concepts are equivalent) UMLS:C5680496 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180170 Excess breast volume or number Category ORPHA:180170 UMLS:C5680496 E (Exact mapping: the two concepts are equivalent) UMLS:C5680495 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180173 Deficient breast volume or number Category ORPHA:180173 UMLS:C5680495 E (Exact mapping: the two concepts are equivalent) Familial juvenile gigantomastia Virginal breast hypertrophy A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. Orphanet ICD-10:N62 OMIM:113670 UMLS:C4749285 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180176 Familial juvenile hypertrophy of the breast ORPHA:180176 ICD-10:N62 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:113670 E (Exact mapping: the two concepts are equivalent) UMLS:C4749285 E (Exact mapping: the two concepts are equivalent) Accessory breasts Polymastia A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life. Orphanet ICD-10:Q83.1 ICD-11:LB62 MedDRA:10049786 UMLS:C0266010 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180182 Supernumerary breasts ORPHA:180182 ICD-10:Q83.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10049786 E (Exact mapping: the two concepts are equivalent) UMLS:C0266010 E (Exact mapping: the two concepts are equivalent) Isolated congenital amastia A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies. Orphanet ICD-10:Q83.0 ICD-11:LB60 MeSH:C562989 OMIM:113700 OMIM:616001 UMLS:C0432357 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180188 Isolated congenital breast hypoplasia/aplasia ORPHA:180188 ICD-10:Q83.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562989 E (Exact mapping: the two concepts are equivalent) OMIM:113700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616001 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432357 E (Exact mapping: the two concepts are equivalent) UMLS:C5680482 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180193 Syndromic breast hypoplasia/aplasia Category ORPHA:180193 UMLS:C5680482 E (Exact mapping: the two concepts are equivalent) UMLS:C5680480 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180199 Rare non-malformative gynecologic or obstetric disease Category ORPHA:180199 UMLS:C5680480 E (Exact mapping: the two concepts are equivalent) Diaphyseal dysplasia-anemia syndrome Ghosal syndrome Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. Orphanet ICD-10:Q78.8 ICD-11:LD24.1Y MeSH:C565551 OMIM:231095 UMLS:C1856465 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1802 Ghosal hematodiaphyseal dysplasia ORPHA:1802 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565551 E (Exact mapping: the two concepts are equivalent) OMIM:231095 E (Exact mapping: the two concepts are equivalent) UMLS:C1856465 E (Exact mapping: the two concepts are equivalent) UMLS:C5680479 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180202 Rare non-malformative breast disease Category ORPHA:180202 UMLS:C5680479 E (Exact mapping: the two concepts are equivalent) UMLS:C5681842 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180205 Rare non-malformative uterovaginal or vulvovaginal disease Category ORPHA:180205 UMLS:C5681842 E (Exact mapping: the two concepts are equivalent) UMLS:C5680481 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180208 Anomaly of puberty or/and menstrual cycle Category ORPHA:180208 UMLS:C5680481 E (Exact mapping: the two concepts are equivalent) 19q13.32 NSP-like protein 1 NSP2 NSPL1 Neuroendocrine-specific protein-like 1 ClinVar:RTN2 Ensembl:ENSG00000125744 Genatlas:RTN2 HGNC:10468 OMIM:603183 SwissProt:O75298 RTN2 reticulon 2 9q33-q34 HGNC:16706 SPG19 spastic paraplegia 19 (autosomal dominant) 3q25.31 AT-1 AT1 Acetyl-CoA transporter 1 ClinVar:SLC33A1 Ensembl:ENSG00000169359 Genatlas:SLC33A1 HGNC:95 IUPHAR:1134 OMIM:603690 Reactome:O00400 SwissProt:O00400 SLC33A1 solute carrier family 33 member 1 UMLS:C5680483 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180220 Rare uterine adnexal tumor Category ORPHA:180220 UMLS:C5680483 E (Exact mapping: the two concepts are equivalent) ICD-10:C22.7 ICD-10:C71.9 MeSH:D018236 UMLS:C0206659 Not applicable Adolescent Childhood Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180226 Embryonal carcinoma ORPHA:180226 ICD-10:C22.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C71.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D018236 E (Exact mapping: the two concepts are equivalent) UMLS:C0206659 E (Exact mapping: the two concepts are equivalent) A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated. Orphanet ICD-10:C80.9 UMLS:C0334518 Not applicable Adolescent Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180229 Polyembryoma ORPHA:180229 ICD-10:C80.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0334518 E (Exact mapping: the two concepts are equivalent) 1p31.1-p21.1 HGNC:30161 SPG29 spastic paraplegia 29 (autosomal dominant) A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage. Orphanet ICD-10:C80.9 ICD-11:2D4Y ICD-11:XH2PS1 UMLS:C0334524 Not applicable Adolescent Adult Childhood Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180234 Mixed germ cell tumor ORPHA:180234 ICD-10:C80.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH2PS1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0334524 E (Exact mapping: the two concepts are equivalent) A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction. Orphanet ICD-10:D28.2 ICD-11:2F33 MedDRA:10053865 UMLS:C0346190 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180237 Benign tumor of fallopian tubes ORPHA:180237 ICD-10:D28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F33 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10053865 E (Exact mapping: the two concepts are equivalent) UMLS:C0346190 E (Exact mapping: the two concepts are equivalent) 8p21.2-q13.3 HGNC:33472 SPG37 spastic paraplegia 37 (autosomal dominant) Cancer of fallopian tubes Malignant tubal tumor Tubal cancer ICD-10:C57.0 ICD-11:2C74 MedDRA:10025915 UMLS:C0153579 Not applicable Adult Elderly Denmark AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180242 Malignant tumor of fallopian tubes ORPHA:180242 ICD-10:C57.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C74 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10025915 E (Exact mapping: the two concepts are equivalent) UMLS:C0153579 E (Exact mapping: the two concepts are equivalent) 4p16-p15 HGNC:33485 SPG38 spastic paraplegia 38 (autosomal dominant, Silver syndrome) Vaginal malignant epithelial tumor A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina. Orphanet ICD-10:C52 ICD-11:2C71 UMLS:C0262659 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180247 Vaginal carcinoma ORPHA:180247 ICD-10:C52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0262659 E (Exact mapping: the two concepts are equivalent) UMLS:C5680484 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180250 Rare breast tumor Category ORPHA:180250 UMLS:C5680484 E (Exact mapping: the two concepts are equivalent) ICD-10:D24 UMLS:C5680485 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180253 Rare benign breast tumor Category ORPHA:180253 ICD-10:D24 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680485 E (Exact mapping: the two concepts are equivalent) Rare breast cancer UMLS:C5679588 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180257 Rare malignant breast tumor Category ORPHA:180257 UMLS:C5679588 E (Exact mapping: the two concepts are equivalent) A rare fibroepithelial tumor of the breast characterized by a painless, circumscribed, firm mass potentially arising in any part of the breast, histologically showing a prominent intracanalicular growth pattern with leaf-like stromal fronds, capped by luminal epithelial and myoepithelial cell layers, accompanied by stromal hypercellularity. The tumor may be benign, borderline, or malignant. Orphanet ICD-10:D48.6 ICD-11:2F30.3 MeSH:D003557 MedDRA:10011813 UMLS:C0238031 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180261 Phyllodes tumor of the breast ORPHA:180261 ICD-10:D48.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2F30.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003557 E (Exact mapping: the two concepts are equivalent) MedDRA:10011813 E (Exact mapping: the two concepts are equivalent) UMLS:C0238031 E (Exact mapping: the two concepts are equivalent) Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement. Orphanet ICD-10:D24 ICD-11:2F30.5 UMLS:C0346157 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180267 Giant adenofibroma of the breast ORPHA:180267 ICD-10:D24 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F30.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0346157 E (Exact mapping: the two concepts are equivalent) 13q14 HGNC:22993 SPG24 spastic paraplegia 24 (autosomal recessive) 14q22.1 KIAA1705 PA-PLA1 PAPLA1 iPLA1a iPLA1alpha intracellular phospholipase A1 alpha phosphatidic acid-preferring phospholipase A1 ClinVar:DDHD1 Ensembl:ENSG00000100523 Genatlas:DDHD1 HGNC:19714 OMIM:614603 Reactome:Q8NEL9 SwissProt:Q8NEL9 DDHD1 DDHD domain containing 1 Mammary Paget disease Paget disease of the breast Paget's disease of the nipple Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses. Orphanet ICD-10:C50.0 ICD-11:2E65.5 MeSH:D010144 MedDRA:10033367 UMLS:C1704323 Adult Austria AND has_annual_incidence_average_value : 0.179 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.433 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.235 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.192 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.287 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.434 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.51 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.29 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.682 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.487 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.421 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.254 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.215 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.345 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.335 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.709 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.096 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.209 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.457 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.415 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.394 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.637 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180275 Paget disease of the nipple ORPHA:180275 ICD-10:C50.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2E65.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010144 E (Exact mapping: the two concepts are equivalent) MedDRA:10033367 E (Exact mapping: the two concepts are equivalent) UMLS:C1704323 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Benign ductal tumor of breast ORPHA:180284 3q27-q28 HGNC:13730 SPG14 spastic paraplegia 14 (autosomal recessive) Rivera-Perez-Salas syndrome Thoracolimb dysplasia, Rivera type A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q77.2 ICD-11:LD24.BY MeSH:C564773 OMIM:273740 UMLS:C1848863 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1803 Thoracomelic dysplasia ORPHA:1803 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.BY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564773 E (Exact mapping: the two concepts are equivalent) OMIM:273740 E (Exact mapping: the two concepts are equivalent) UMLS:C1848863 E (Exact mapping: the two concepts are equivalent) 1q24-q32 HGNC:21340 SPG23 spastic paraplegia 23 (autosomal recessive) UMLS:C5681841 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180303 Rare non-malformative uterine adnexal disease Category ORPHA:180303 UMLS:C5681841 E (Exact mapping: the two concepts are equivalent) 6q23-q24.1 HGNC:25855 SPG25 spastic paraplegia 25 (autosomal recessive, with disc herniation) UMLS:C5680468 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180312 Rare vulvovaginal tumor Category ORPHA:180312 UMLS:C5680468 E (Exact mapping: the two concepts are equivalent) 10q22.1-q24.1 HGNC:26071 SPG27 spastic paraplegia 27 (autosomal recessive) 14q12-q21 SPG29 HGNC:32314 SPG32 spastic paraplegia 32 (autosomal recessive) Xq11.2 HGNC:14260 SPG16 spastic paraplegia 16 (complicated, X-linked recessive) reserved HGNC:32944 SPG34 spastic paraplegia 34 (autosomal dominant) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dyssegmental dysplasia, Rolland-Desbuquois type OMIM:601561 UMLS:C1832111 Dyssegmental dysplasia-glaucoma syndrome ORPHA:1804 OMIM:601561 E (Exact mapping: the two concepts are equivalent) UMLS:C1832111 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y OMIM:268320 UMLS:C4302546 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1806 Ectodermal dysplasia-blindness syndrome ORPHA:1806 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268320 E (Exact mapping: the two concepts are equivalent) UMLS:C4302546 E (Exact mapping: the two concepts are equivalent) FFDD type III FFDD3 Focal facial dermal dysplasia 3, Setleis type Setleis syndrome Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:C536385 OMIM:227260 UMLS:C1744559 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1807 Focal facial dermal dysplasia type III Clinical subtype ORPHA:1807 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536385 E (Exact mapping: the two concepts are equivalent) OMIM:227260 E (Exact mapping: the two concepts are equivalent) UMLS:C1744559 E (Exact mapping: the two concepts are equivalent) UMLS:C5680472 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180766 Malformative syndrome with dentinogenesis imperfecta Category ORPHA:180766 UMLS:C5680472 E (Exact mapping: the two concepts are equivalent) UMLS:C5680471 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180772 Rare disease with autism Category ORPHA:180772 UMLS:C5680471 E (Exact mapping: the two concepts are equivalent) UMLS:C5680470 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180776 Non-syndromic diaphragmatic or thoracic malformation Category ORPHA:180776 UMLS:C5680470 E (Exact mapping: the two concepts are equivalent) UMLS:C5680469 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180779 Syndromic diaphragmatic or thoracic malformation Category ORPHA:180779 UMLS:C5680469 E (Exact mapping: the two concepts are equivalent) Christianson-Fourie syndrome Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:C536180 OMIM:601375 UMLS:C1832411 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type ORPHA:1808 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536180 E (Exact mapping: the two concepts are equivalent) OMIM:601375 E (Exact mapping: the two concepts are equivalent) UMLS:C1832411 E (Exact mapping: the two concepts are equivalent) UMLS:C5680473 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180821 Rare gastroesophageal tumor Category ORPHA:180821 UMLS:C5680473 E (Exact mapping: the two concepts are equivalent) Rare pancreatic tumor MedDRA:10061902 UMLS:C5679585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=180824 Rare tumor of pancreas Category ORPHA:180824 MedDRA:10061902 E (Exact mapping: the two concepts are equivalent) UMLS:C5679585 E (Exact mapping: the two concepts are equivalent) Halal-Setton-Wang syndrome Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:C535621 UMLS:C2930953 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1809 Hidrotic ectodermal dysplasia, Halal type ORPHA:1809 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535621 E (Exact mapping: the two concepts are equivalent) UMLS:C2930953 E (Exact mapping: the two concepts are equivalent) Christ-Siemens-Touraine syndrome X-linked anhidrotic ectodermal dysplasia XHED ICD-10:Q82.4 ICD-11:LD27.02 MeSH:D053358 OMIM:305100 UMLS:C0162359 X-linked recessive Childhood Infancy Denmark AND has_point_prevalence_average_value : 12.7 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181 X-linked hypohidrotic ectodermal dysplasia Etiological subtype ORPHA:181 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053358 E (Exact mapping: the two concepts are equivalent) OMIM:305100 E (Exact mapping: the two concepts are equivalent) UMLS:C0162359 E (Exact mapping: the two concepts are equivalent) AD-HED Autosomal dominant anhidrotic ectodermal dysplasia ICD-10:Q82.4 ICD-11:LD27.02 OMIM:129490 OMIM:614940 OMIM:617337 UMLS:C5680003 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1810 Autosomal dominant hypohidrotic ectodermal dysplasia Etiological subtype ORPHA:1810 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:129490 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614940 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617337 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680003 E (Exact mapping: the two concepts are equivalent) A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. Orphanet ICD-10:Q84.8 MeSH:C537741 OMIM:601319 UMLS:C1832473 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1811 Odontomicronychial dysplasia ORPHA:1811 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537741 E (Exact mapping: the two concepts are equivalent) OMIM:601319 E (Exact mapping: the two concepts are equivalent) UMLS:C1832473 E (Exact mapping: the two concepts are equivalent) 22q12.3 FBX7 Fbx PARK15 ClinVar:FBXO7 Ensembl:ENSG00000100225 Genatlas:FBXO7 HGNC:13586 OMIM:605648 Reactome:Q9Y3I1 SwissProt:Q9Y3I1 FBXO7 F-box protein 7 3p24.1 T-box brain2 TBR2 ClinVar:EOMES Ensembl:ENSG00000163508 Genatlas:EOMES HGNC:3372 OMIM:604615 SwissProt:O95936 EOMES eomesodermin 9q22.2 SBP2 Sec insertion sequence-binding protein 2 Selenocysteine insertion sequence-binding protein 2 ClinVar:SECISBP2 Ensembl:ENSG00000187742 Genatlas:SECISBP2 HGNC:30972 OMIM:607693 Reactome:Q96T21 SwissProt:Q96T21 SECISBP2 SECIS binding protein 2 3q26.31 NYD-SP12 ClinVar:SPATA16 Ensembl:ENSG00000144962 Genatlas:SPATA16 HGNC:29935 OMIM:609856 SwissProt:Q9BXB7 SPATA16 spermatogenesis associated 16 2p11.2 SIATGM3S ST3GalV ganglioside GM3 synthase lactosylceramide alpha-2,3-sialyltransferase ClinVar:ST3GAL5 Ensembl:ENSG00000115525 Genatlas:ST3GAL5 HGNC:10872 OMIM:604402 Reactome:Q9UNP4 SwissProt:Q9UNP4 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 12q13.13 CK4 K4 cytokeratin 4 keratin, type II cytoskeletal 4 ClinVar:KRT4 Ensembl:ENSG00000170477 Genatlas:KRT4 HGNC:6441 OMIM:123940 Reactome:P19013 SwissProt:P19013 KRT4 keratin 4 17q21.2 CK13 K13 MGC161462 MGC3781 cytokeratin 13 keratin, type I cytoskeletal 13 ClinVar:KRT13 Ensembl:ENSG00000171401 Genatlas:KRT13 HGNC:6415 OMIM:148065 Reactome:P13646 SwissProt:P13646 KRT13 keratin 13 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y OMIM:225040 UMLS:C4518334 X-linked recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:225040 E (Exact mapping: the two concepts are equivalent) UMLS:C4518334 E (Exact mapping: the two concepts are equivalent) ICD-11:5A44 UMLS:C5680478 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181368 Rare insulin-resistance syndrome Category ORPHA:181368 ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680478 E (Exact mapping: the two concepts are equivalent) Rare insulin-dependent diabetes mellitus UMLS:C5679586 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181371 Rare diabetes mellitus type 1 Category ORPHA:181371 UMLS:C5679586 E (Exact mapping: the two concepts are equivalent) Rare insulin-independent diabetes mellitus UMLS:C5679587 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181376 Rare diabetes mellitus type 2 Category ORPHA:181376 UMLS:C5679587 E (Exact mapping: the two concepts are equivalent) UMLS:C5680476 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181381 Other rare diabetes mellitus Category ORPHA:181381 UMLS:C5680476 E (Exact mapping: the two concepts are equivalent) UMLS:C5680477 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181384 Rare hypothalamic or pituitary disease Category ORPHA:181384 UMLS:C5680477 E (Exact mapping: the two concepts are equivalent) UMLS:C5680474 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Category ORPHA:181387 UMLS:C5680474 E (Exact mapping: the two concepts are equivalent) UMLS:C5680475 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Category ORPHA:181390 UMLS:C5680475 E (Exact mapping: the two concepts are equivalent) GHIS Short stature due to a defect in growth hormone receptor or post-receptor pathway Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms). Orphanet UMLS:C4318479 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181393 Growth hormone insensitivity syndrome Category ORPHA:181393 UMLS:C4318479 E (Exact mapping: the two concepts are equivalent) UMLS:C5680612 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181396 Rare hypothyroidism Category ORPHA:181396 UMLS:C5680612 E (Exact mapping: the two concepts are equivalent) UMLS:C5680610 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181399 Rare hyperthyroidism Category ORPHA:181399 UMLS:C5680610 E (Exact mapping: the two concepts are equivalent) UMLS:C5680611 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181402 Syndrome with hypoparathyroidism Category ORPHA:181402 UMLS:C5680611 E (Exact mapping: the two concepts are equivalent) UMLS:C5680613 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181405 Rare hypoparathyroidism Category ORPHA:181405 UMLS:C5680613 E (Exact mapping: the two concepts are equivalent) UMLS:C5680614 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181408 Rare hyperparathyroidism Category ORPHA:181408 UMLS:C5680614 E (Exact mapping: the two concepts are equivalent) ICD-11:5A71 MeSH:D047808 MedDRA:10061630 UMLS:C0302280 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181412 Adrenogenital syndrome Category ORPHA:181412 ICD-11:5A71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D047808 E (Exact mapping: the two concepts are equivalent) MedDRA:10061630 E (Exact mapping: the two concepts are equivalent) UMLS:C0302280 E (Exact mapping: the two concepts are equivalent) Rare primary aldosteronism UMLS:C5679597 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181415 Rare primary hyperaldosteronism Category ORPHA:181415 UMLS:C5679597 E (Exact mapping: the two concepts are equivalent) UMLS:C5680606 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181419 Rare hypoaldosteronism Category ORPHA:181419 UMLS:C5680606 E (Exact mapping: the two concepts are equivalent) UMLS:C5680607 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181422 Rare hyperlipidemia Category ORPHA:181422 UMLS:C5680607 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare hyperlipidemia OBSOLETE: Rare major hypertriglyceridemia ORPHA:181425 ICD-11:5C80.3 OMIM:143470 OMIM:610762 OMIM:614028 UMLS:C0342883 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181428 Familial Hyperalphalipoproteinemia ORPHA:181428 ICD-11:5C80.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:143470 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610762 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614028 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342883 E (Exact mapping: the two concepts are equivalent) ICD-10:E78.6 UMLS:C5680609 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181431 Rare hypolipidemia Category ORPHA:181431 ICD-10:E78.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680609 E (Exact mapping: the two concepts are equivalent) UMLS:C5680608 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181437 Rare syndromic dyslipidemia Category ORPHA:181437 UMLS:C5680608 E (Exact mapping: the two concepts are equivalent) Rare disorder with primary hypogonadism UMLS:C5679596 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=181441 Rare disorder with hypergonadotropic hypogonadism Category ORPHA:181441 UMLS:C5679596 E (Exact mapping: the two concepts are equivalent) Berlin syndrome Ectodermal dysplasia, Berlin type Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y OMIM:246500 UMLS:C0406729 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:246500 E (Exact mapping: the two concepts are equivalent) UMLS:C0406729 E (Exact mapping: the two concepts are equivalent) Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C565068 OMIM:129510 UMLS:C1851858 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1818 Ectodermal dysplasia, trichoodontoonychial type ORPHA:1818 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565068 E (Exact mapping: the two concepts are equivalent) OMIM:129510 E (Exact mapping: the two concepts are equivalent) UMLS:C1851858 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple metaphyseal dysplasia OBSOLETE: Epimetaphyseal skeletal dysplasia ORPHA:1819 2p13.3 GLOD2 MCE MMCE glyoxalase domain containing 2 methylmalonyl CoA isomerase ClinVar:MCEE Ensembl:ENSG00000124370 Genatlas:MCEE HGNC:16732 OMIM:608419 Reactome:Q96PE7 SwissProt:Q96PE7 MCEE methylmalonyl-CoA epimerase Chromoblastomycosis Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being <i>Fonsecaea pedrosoi</i>, <i>Phialophora verrucosa</i> and <i>Cladophialophora carrionii</i>. Rarely, it can be caused by <i>Rhinocladiella aquaspersa</i>. Orphanet ICD-10:B43.0 ICD-10:B43.1 ICD-10:B43.2 ICD-10:B43.8 ICD-10:B43.9 ICD-11:1F24 MeSH:D002862 MedDRA:10008803 UMLS:C0008582 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182 Chromomycosis ORPHA:182 ICD-10:B43.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B43.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B43.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B43.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B43.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F24 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002862 E (Exact mapping: the two concepts are equivalent) MedDRA:10008803 E (Exact mapping: the two concepts are equivalent) UMLS:C0008582 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182040 Rare aplastic anemia Category ORPHA:182040 UMLS:C5680605 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182043 Rare constitutional hemolytic anemia Category ORPHA:182043 UMLS:C5680605 E (Exact mapping: the two concepts are equivalent) UMLS:C5680604 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182047 Rare acquired hemolytic anemia Category ORPHA:182047 UMLS:C5680604 E (Exact mapping: the two concepts are equivalent) MYH9-RD MYH9-related disorder MYH9-related syndrome MYH9-related syndromic thrombocytopenia MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. Orphanet ICD-10:D69.4 ICD-11:3B64.01 MeSH:C535507 MedDRA:10079437 OMIM:155100 UMLS:C5200934 Autosomal dominant Adolescent Adult Childhood Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182050 MYH9-related disease ORPHA:182050 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535507 E (Exact mapping: the two concepts are equivalent) MedDRA:10079437 E (Exact mapping: the two concepts are equivalent) OMIM:155100 E (Exact mapping: the two concepts are equivalent) UMLS:C5200934 E (Exact mapping: the two concepts are equivalent) UMLS:C5680603 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182054 Rare thrombotic disease of hematologic origin Category ORPHA:182054 UMLS:C5680603 E (Exact mapping: the two concepts are equivalent) UMLS:C5680599 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182058 Primary orthostatic hypotension Clinical group ORPHA:182058 UMLS:C5680599 E (Exact mapping: the two concepts are equivalent) UMLS:C4025708 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182061 Cerebellar malformation Category ORPHA:182061 UMLS:C4025708 E (Exact mapping: the two concepts are equivalent) UMLS:C5680598 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182064 Rare neuroinflammatory or neuroimmunological disease Category ORPHA:182064 UMLS:C5680598 E (Exact mapping: the two concepts are equivalent) Glioma MeSH:D005910 MedDRA:10018338 OMIM:137800 OMIM:607248 OMIM:613028 OMIM:613029 OMIM:613030 OMIM:613031 OMIM:613032 OMIM:613033 UMLS:C0017638 Croatia AND has_annual_incidence_average_value : 6.2 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 26.0 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_annual_incidence_average_value : 5.7 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 5.26 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182067 Glial tumor Clinical group ORPHA:182067 MeSH:D005910 E (Exact mapping: the two concepts are equivalent) MedDRA:10018338 E (Exact mapping: the two concepts are equivalent) OMIM:137800 E (Exact mapping: the two concepts are equivalent) OMIM:607248 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613028 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613029 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613031 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613032 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613033 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0017638 E (Exact mapping: the two concepts are equivalent) UMLS:C5680602 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182070 Rare neurodegenerative disease Category ORPHA:182070 UMLS:C5680602 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability ORPHA:182073 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability ORPHA:182076 UMLS:C5680600 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182079 ARX-related epileptic encephalopathy Clinical group ORPHA:182079 UMLS:C5680600 E (Exact mapping: the two concepts are equivalent) UMLS:C5680595 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182083 Channelopathy with epilepsy Category ORPHA:182083 UMLS:C5680595 E (Exact mapping: the two concepts are equivalent) UMLS:C5680596 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182086 Acquired peripheral neuropathy Category ORPHA:182086 UMLS:C5680596 E (Exact mapping: the two concepts are equivalent) PAH Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term). Orphanet ICD-11:BB01.0 MeSH:D000081029 MedDRA:10064911 UMLS:C2973725 Autosomal dominant Not applicable All ages Czech Republic AND has_annual_incidence_average_value : 1.07 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 2.24 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.37 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_point_prevalence_average_value : 1.55 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.72 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.09 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182090 Pulmonary arterial hypertension Category ORPHA:182090 ICD-11:BB01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000081029 E (Exact mapping: the two concepts are equivalent) MedDRA:10064911 E (Exact mapping: the two concepts are equivalent) UMLS:C2973725 E (Exact mapping: the two concepts are equivalent) ILD MeSH:D017563 MedDRA:10022611 UMLS:C0206062 Denmark AND has_annual_incidence_average_value : 4.1 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 5.4 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 4.63 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 17.3 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_annual_incidence_average_value : 7.6 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182095 Interstitial lung disease Category ORPHA:182095 MeSH:D017563 E (Exact mapping: the two concepts are equivalent) MedDRA:10022611 E (Exact mapping: the two concepts are equivalent) UMLS:C0206062 E (Exact mapping: the two concepts are equivalent) ICD-11:CA60 MeSH:D011009 MedDRA:10035653 UMLS:C0032273 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182098 Pneumoconiosis Clinical group ORPHA:182098 ICD-11:CA60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011009 E (Exact mapping: the two concepts are equivalent) MedDRA:10035653 E (Exact mapping: the two concepts are equivalent) UMLS:C0032273 E (Exact mapping: the two concepts are equivalent) ICD-10:J82 UMLS:C3872845 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182101 Idiopathic eosinophilic pneumonia Clinical group ORPHA:182101 ICD-10:J82 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3872845 E (Exact mapping: the two concepts are equivalent) CTD-ILD Secondary ILD in childhood and adulthood associated with a connective tissue disease UMLS:C5679595 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Category ORPHA:182104 UMLS:C5679595 E (Exact mapping: the two concepts are equivalent) UMLS:C5680597 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182108 Thoracic malformation Category ORPHA:182108 UMLS:C5680597 E (Exact mapping: the two concepts are equivalent) UMLS:C5680590 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182111 Respiratory malformation Category ORPHA:182111 UMLS:C5680590 E (Exact mapping: the two concepts are equivalent) UMLS:C5680591 Europe AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182114 Rare urogenital tumor Category ORPHA:182114 UMLS:C5680591 E (Exact mapping: the two concepts are equivalent) UMLS:C5680592 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182117 Non-syndromic urogenital tract malformation of female Category ORPHA:182117 UMLS:C5680592 E (Exact mapping: the two concepts are equivalent) UMLS:C5680593 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182121 Non-syndromic urogenital tract malformation of male Category ORPHA:182121 UMLS:C5680593 E (Exact mapping: the two concepts are equivalent) UMLS:C5680594 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182124 Non-syndromic urogenital tract malformation of male and female Category ORPHA:182124 UMLS:C5680594 E (Exact mapping: the two concepts are equivalent) A rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor. Orphanet ICD-10:C38.3 ICD-10:C48.8 ICD-10:C72.9 MeSH:D018237 MedDRA:10018207 UMLS:C5190513 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182127 Extragonadal germinoma ORPHA:182127 ICD-10:C38.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C48.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C72.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D018237 E (Exact mapping: the two concepts are equivalent) MedDRA:10018207 E (Exact mapping: the two concepts are equivalent) UMLS:C5190513 E (Exact mapping: the two concepts are equivalent) MeSH:D004701 MedDRA:10061121 UMLS:C0014132 Europe AND has_annual_incidence_average_value : 3.75 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 64.0 AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182130 Tumor of endocrine glands Category ORPHA:182130 MeSH:D004701 E (Exact mapping: the two concepts are equivalent) MedDRA:10061121 E (Exact mapping: the two concepts are equivalent) UMLS:C0014132 E (Exact mapping: the two concepts are equivalent) Trevor disease A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint. Orphanet ICD-10:Q74.8 ICD-11:LD24.2Y MeSH:C537997 OMIM:127800 UMLS:C0432282 Autosomal dominant Adolescent Childhood Worldwide AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1822 Dysplasia epiphysealis hemimelica ORPHA:1822 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537997 E (Exact mapping: the two concepts are equivalent) OMIM:127800 E (Exact mapping: the two concepts are equivalent) UMLS:C0432282 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare ophthalmic disorder OBSOLETE: Rare inflammatory eye disease ORPHA:182214 UMLS:C5680585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182222 Rare systemic disease Category ORPHA:182222 UMLS:C5680585 E (Exact mapping: the two concepts are equivalent) UMLS:C2895206 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182228 Systemic autoimmune disease Category ORPHA:182228 UMLS:C2895206 E (Exact mapping: the two concepts are equivalent) UMLS:C5680586 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182231 Rare rheumatologic disease Category ORPHA:182231 UMLS:C5680586 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia OBSOLETE: Localized epiphyseal dysplasia ORPHA:1823 Epiphyseal dysplasia-microcephaly-nystagmus syndrome A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Orphanet ICD-10:Q87.5 ICD-11:LD24.6Y MeSH:C537038 MedDRA:10062600 OMIM:226960 UMLS:C0796021 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1824 Lowry-Wood syndrome ORPHA:1824 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537038 E (Exact mapping: the two concepts are equivalent) MedDRA:10062600 E (Exact mapping: the two concepts are equivalent) OMIM:226960 E (Exact mapping: the two concepts are equivalent) UMLS:C0796021 E (Exact mapping: the two concepts are equivalent) Epiphyseal dysplasia-deafness-dysmorphism syndrome Finucane-Kurtz-Scott syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.0 UMLS:C4707857 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome ORPHA:1825 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707857 E (Exact mapping: the two concepts are equivalent) 2q31.1 ARHGAP2 Chimerin 1 (GTPase-activating protein, rho, 2) RhoGAP2 chimaerin 1 n-chimerin ClinVar:CHN1 Ensembl:ENSG00000128656 Genatlas:CHN1 HGNC:1943 OMIM:118423 Reactome:P15882 SwissProt:P15882 CHN1 chimerin 1 A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. Orphanet ICD-10:Q78.5 ICD-11:LD25.1 MeSH:C538064 OMIM:305620 OMIM:617137 UMLS:C0265293 Autosomal dominant X-linked dominant Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1826 Frontometaphyseal dysplasia ORPHA:1826 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538064 E (Exact mapping: the two concepts are equivalent) OMIM:305620 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617137 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265293 E (Exact mapping: the two concepts are equivalent) AFND Acromelic frontonasal dysostosis Toriello syndrome A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. Orphanet ICD-10:Q75.8 ICD-11:LD25.3 MeSH:C535657 OMIM:603671 UMLS:C0796182 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1827 Acromelic frontonasal dysplasia ORPHA:1827 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535657 E (Exact mapping: the two concepts are equivalent) OMIM:603671 E (Exact mapping: the two concepts are equivalent) UMLS:C0796182 E (Exact mapping: the two concepts are equivalent) UMLS:C5680587 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=182734 Genetic urticaria Clinical group ORPHA:182734 UMLS:C5680587 E (Exact mapping: the two concepts are equivalent) Churg-Strauss syndrome EGPA Granulomatous allergic angiitis A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations. Orphanet ICD-10:M30.1 ICD-11:4A44.A2 MeSH:D015267 MedDRA:10048594 UMLS:C0008728 Not applicable Adolescent Adult Elderly Australia AND has_point_prevalence_average_value : 2.23 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.56 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 1.13 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.78 AND has_point_prevalence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 Peru AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183 Eosinophilic granulomatosis with polyangiitis ORPHA:183 ICD-10:M30.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A44.A2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015267 E (Exact mapping: the two concepts are equivalent) MedDRA:10048594 E (Exact mapping: the two concepts are equivalent) UMLS:C0008728 E (Exact mapping: the two concepts are equivalent) Schimke syndrome Spondyloepiphyseal dysplasia-nephrotic syndrome A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. Orphanet ICD-10:Q77.7 ICD-11:4A01.32 MeSH:C536629 MedDRA:10048699 OMIM:242900 UMLS:C0877024 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 133.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1830 Schimke immuno-osseous dysplasia ORPHA:1830 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536629 E (Exact mapping: the two concepts are equivalent) MedDRA:10048699 E (Exact mapping: the two concepts are equivalent) OMIM:242900 E (Exact mapping: the two concepts are equivalent) UMLS:C0877024 E (Exact mapping: the two concepts are equivalent) De Hauwere-Chitty syndrome Iris dysplasia-hypertelorism-deafness syndrome Iris dysplasia-hypertelorism-hearing loss syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Axenfeld-Rieger syndrome MeSH:C535537 OMIM:109120 UMLS:C2930925 De Hauwere syndrome ORPHA:1831 MeSH:C535537 E (Exact mapping: the two concepts are equivalent) OMIM:109120 E (Exact mapping: the two concepts are equivalent) UMLS:C2930925 E (Exact mapping: the two concepts are equivalent) Raine syndrome A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Orphanet ICD-10:Q78.2 ICD-11:LD24.1Y MeSH:C535282 MedDRA:10087908 OMIM:259775 UMLS:C1850106 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1832 Osteosclerotic bone dysplasia ORPHA:1832 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535282 E (Exact mapping: the two concepts are equivalent) MedDRA:10087908 E (Exact mapping: the two concepts are equivalent) OMIM:259775 E (Exact mapping: the two concepts are equivalent) UMLS:C1850106 E (Exact mapping: the two concepts are equivalent) Blastogenesis defect Russell-Weaver-Bull syndrome Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. Orphanet ICD-10:Q87.8 MeSH:C537790 UMLS:C2931613 Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1834 Axial mesodermal dysplasia spectrum ORPHA:1834 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537790 E (Exact mapping: the two concepts are equivalent) UMLS:C2931613 E (Exact mapping: the two concepts are equivalent) Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. Orphanet UMLS:C5680589 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183422 Polymalformative genetic syndrome with increased risk of developing cancer Category ORPHA:183422 UMLS:C5680589 E (Exact mapping: the two concepts are equivalent) UMLS:C5680588 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183426 Genetic epidermal disorder Category ORPHA:183426 UMLS:C5680588 E (Exact mapping: the two concepts are equivalent) Genetic ichthyosis MedDRA:10021202 UMLS:C0856562 France AND has_point_prevalence_average_value : 1.33 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183435 Inherited ichthyosis Category ORPHA:183435 MedDRA:10021202 E (Exact mapping: the two concepts are equivalent) UMLS:C0856562 E (Exact mapping: the two concepts are equivalent) UMLS:C5680579 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183438 Genetic erythrokeratoderma Category ORPHA:183438 UMLS:C5680579 E (Exact mapping: the two concepts are equivalent) UMLS:C5680581 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183441 Genetic acrokeratoderma Category ORPHA:183441 UMLS:C5680581 E (Exact mapping: the two concepts are equivalent) UMLS:C5680580 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183444 Genetic porokeratosis Category ORPHA:183444 UMLS:C5680580 E (Exact mapping: the two concepts are equivalent) UMLS:C5680583 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183447 Genetic epidermal appendage anomaly Category ORPHA:183447 UMLS:C5680583 E (Exact mapping: the two concepts are equivalent) UMLS:C5680582 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183450 Genetic hair anomaly Category ORPHA:183450 UMLS:C5680582 E (Exact mapping: the two concepts are equivalent) UMLS:C5680584 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183454 Genetic nail anomaly Category ORPHA:183454 UMLS:C5680584 E (Exact mapping: the two concepts are equivalent) UMLS:C5680577 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183460 Genetic sebaceous gland anomaly Category ORPHA:183460 UMLS:C5680577 E (Exact mapping: the two concepts are equivalent) UMLS:C5680578 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183463 Genetic pigmentation anomaly of the skin Category ORPHA:183463 UMLS:C5680578 E (Exact mapping: the two concepts are equivalent) UMLS:C5680575 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183466 Genetic hyperpigmentation of the skin Category ORPHA:183466 UMLS:C5680575 E (Exact mapping: the two concepts are equivalent) UMLS:C5680576 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183469 Genetic hypopigmentation of the skin Category ORPHA:183469 UMLS:C5680576 E (Exact mapping: the two concepts are equivalent) UMLS:C5680574 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183472 Genetic dermis disorder Category ORPHA:183472 UMLS:C5680574 E (Exact mapping: the two concepts are equivalent) UMLS:C5680572 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183478 Genetic skin vascular disorder Category ORPHA:183478 UMLS:C5680572 E (Exact mapping: the two concepts are equivalent) UMLS:C5680573 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183481 Genetic mixed dermis disorder Category ORPHA:183481 UMLS:C5680573 E (Exact mapping: the two concepts are equivalent) UMLS:C5680570 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183484 Genetic subcutaneous tissue disorder Category ORPHA:183484 UMLS:C5680570 E (Exact mapping: the two concepts are equivalent) UMLS:C5680571 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183487 Genetic skin tumor or hamartoma Category ORPHA:183487 UMLS:C5680571 E (Exact mapping: the two concepts are equivalent) Genetic skin photosensitivity Photogenodermatosis Photogénodermatose UMLS:C5679594 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183490 Genetic photodermatosis Category ORPHA:183490 UMLS:C5679594 E (Exact mapping: the two concepts are equivalent) UMLS:C5680569 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183494 Genetic immune deficiency with skin involvement Category ORPHA:183494 UMLS:C5680569 E (Exact mapping: the two concepts are equivalent) UMLS:C5680567 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183497 Genetic neuromuscular disease Category ORPHA:183497 UMLS:C5680567 E (Exact mapping: the two concepts are equivalent) UMLS:C5680568 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183500 Genetic neurodegenerative disease Category ORPHA:183500 UMLS:C5680568 E (Exact mapping: the two concepts are equivalent) UMLS:C5681839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183503 Genetic central nervous system and retinal vascular disease Category ORPHA:183503 UMLS:C5681839 E (Exact mapping: the two concepts are equivalent) UMLS:C5680566 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183506 Genetic central nervous system malformation Category ORPHA:183506 UMLS:C5680566 E (Exact mapping: the two concepts are equivalent) UMLS:C5680565 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183509 Rare genetic headache Category ORPHA:183509 UMLS:C5680565 E (Exact mapping: the two concepts are equivalent) UMLS:C5680564 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183512 Rare genetic epilepsy Category ORPHA:183512 UMLS:C5680564 E (Exact mapping: the two concepts are equivalent) UMLS:C5681838 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183515 Rare genetic medullar disease Category ORPHA:183515 UMLS:C5681838 E (Exact mapping: the two concepts are equivalent) UMLS:C5680563 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183518 Hereditary ataxia Category ORPHA:183518 UMLS:C5680563 E (Exact mapping: the two concepts are equivalent) UMLS:C5680562 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183521 Rare genetic movement disorder Category ORPHA:183521 UMLS:C5680562 E (Exact mapping: the two concepts are equivalent) UMLS:C5680561 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183524 Rare genetic bone disease Category ORPHA:183524 UMLS:C5680561 E (Exact mapping: the two concepts are equivalent) UMLS:C5680560 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183527 Genetic bone tumor Category ORPHA:183527 UMLS:C5680560 E (Exact mapping: the two concepts are equivalent) UMLS:C5680559 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183530 Rare genetic developmental defect during embryogenesis Category ORPHA:183530 UMLS:C5680559 E (Exact mapping: the two concepts are equivalent) UMLS:C5680558 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183533 Genetic multiple congenital anomalies/dysmorphic syndrome Category ORPHA:183533 UMLS:C5680558 E (Exact mapping: the two concepts are equivalent) UMLS:C5680557 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183536 Genetic congenital limb malformation Category ORPHA:183536 UMLS:C5680557 E (Exact mapping: the two concepts are equivalent) UMLS:C5680556 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183539 Genetic renal or urinary tract malformation Category ORPHA:183539 UMLS:C5680556 E (Exact mapping: the two concepts are equivalent) UMLS:C5680555 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183542 Genetic cranial malformation Category ORPHA:183542 UMLS:C5680555 E (Exact mapping: the two concepts are equivalent) UMLS:C5681837 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183545 Genetic digestive tract malformation Category ORPHA:183545 UMLS:C5681837 E (Exact mapping: the two concepts are equivalent) UMLS:C5680554 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen Category ORPHA:183548 UMLS:C5680554 E (Exact mapping: the two concepts are equivalent) UMLS:C5680553 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183554 Genetic respiratory or mediastinal malformation Category ORPHA:183554 UMLS:C5680553 E (Exact mapping: the two concepts are equivalent) UMLS:C5680550 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183557 Genetic developmental defect of the eye Category ORPHA:183557 UMLS:C5680550 E (Exact mapping: the two concepts are equivalent) UMLS:C5680551 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183570 Genetic malformation syndrome with short stature Category ORPHA:183570 UMLS:C5680551 E (Exact mapping: the two concepts are equivalent) UMLS:C5680552 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183573 Genetic overgrowth/obesity syndrome Category ORPHA:183573 UMLS:C5680552 E (Exact mapping: the two concepts are equivalent) UMLS:C5680546 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183576 Genetic branchial arch or oral-acral syndrome Category ORPHA:183576 UMLS:C5680546 E (Exact mapping: the two concepts are equivalent) UMLS:C5680547 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183580 Genetic malformation syndrome with odontal and/or periodontal component Category ORPHA:183580 UMLS:C5680547 E (Exact mapping: the two concepts are equivalent) UMLS:C5680548 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183583 Genetic head and neck malformation Category ORPHA:183583 UMLS:C5680548 E (Exact mapping: the two concepts are equivalent) UMLS:C5680549 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183586 Genetic glomerular disease Category ORPHA:183586 UMLS:C5680549 E (Exact mapping: the two concepts are equivalent) UMLS:C5680543 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183589 Genetic thrombotic microangiopathy Category ORPHA:183589 UMLS:C5680543 E (Exact mapping: the two concepts are equivalent) UMLS:C5680544 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183592 Genetic renal tubular disease Category ORPHA:183592 UMLS:C5680544 E (Exact mapping: the two concepts are equivalent) UMLS:C5680545 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183595 Genetic renal tumor Category ORPHA:183595 UMLS:C5680545 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare genetic disorder of the ocular adnexa OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease ORPHA:183598 Kantaputra mesomelic dysplasia MDK Mesomelic dysplasia, Thai type Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Orphanet ICD-10:Q78.8 ICD-11:LD24.A MeSH:C535547 OMIM:156232 OMIM:613681 UMLS:C1835009 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1836 Mesomelic dysplasia, Kantaputra type ORPHA:1836 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535547 E (Exact mapping: the two concepts are equivalent) OMIM:156232 E (Exact mapping: the two concepts are equivalent) OMIM:613681 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1835009 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare refraction anomaly OBSOLETE: Rare genetic refraction anomaly ORPHA:183601 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pediatric-onset glaucoma of genetic origin OBSOLETE: Rare genetic glaucoma ORPHA:183604 UMLS:C5680542 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183607 Genetic lens and zonula anomaly Category ORPHA:183607 UMLS:C5680542 E (Exact mapping: the two concepts are equivalent) UMLS:C5680540 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183616 Genetic neuro-ophthalmological disease Category ORPHA:183616 UMLS:C5680540 E (Exact mapping: the two concepts are equivalent) UMLS:C5681835 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183619 Genetic eye tumor Category ORPHA:183619 UMLS:C5681835 E (Exact mapping: the two concepts are equivalent) UMLS:C5680541 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183622 Genetic respiratory malformation Category ORPHA:183622 UMLS:C5680541 E (Exact mapping: the two concepts are equivalent) UMLS:C5680537 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183625 Rare genetic diabetes mellitus Category ORPHA:183625 UMLS:C5680537 E (Exact mapping: the two concepts are equivalent) UMLS:C5680536 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183628 Rare genetic hypothalamic or pituitary disease Category ORPHA:183628 UMLS:C5680536 E (Exact mapping: the two concepts are equivalent) UMLS:C5680539 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183631 Rare genetic thyroid disease Category ORPHA:183631 UMLS:C5680539 E (Exact mapping: the two concepts are equivalent) UMLS:C5680538 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder Category ORPHA:183634 UMLS:C5680538 E (Exact mapping: the two concepts are equivalent) UMLS:C5680534 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183637 Rare genetic adrenal disease Category ORPHA:183637 UMLS:C5680534 E (Exact mapping: the two concepts are equivalent) UMLS:C5680535 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183643 Genetic polyendocrinopathy Category ORPHA:183643 UMLS:C5680535 E (Exact mapping: the two concepts are equivalent) UMLS:C5680532 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183651 Rare constitutional anemia Category ORPHA:183651 UMLS:C5680532 E (Exact mapping: the two concepts are equivalent) UMLS:C5680533 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183654 Rare genetic coagulation disorder Category ORPHA:183654 UMLS:C5680533 E (Exact mapping: the two concepts are equivalent) SCID Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells. Orphanet ICD-11:4A01.10 MeSH:D016511 MedDRA:10069566 UMLS:C0085110 Autosomal recessive X-linked recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000 Chile AND has_birth_prevalence_average_value : 1.28 AND has_birth_prevalence_range : 1-9 / 100 000 Costa rica AND has_birth_prevalence_average_value : 3.79 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.65 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Greece AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.72 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183660 Severe combined immunodeficiency Clinical group ORPHA:183660 ICD-11:4A01.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016511 E (Exact mapping: the two concepts are equivalent) MedDRA:10069566 E (Exact mapping: the two concepts are equivalent) UMLS:C0085110 E (Exact mapping: the two concepts are equivalent) HIGM with susceptibility to opportunistic infections Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to <i>P. jiroveci</i>, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation. Orphanet ICD-10:D80.5 ICD-11:4A01.1Y OMIM:308230 OMIM:606843 UMLS:C5190885 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183663 Hyper-IgM syndrome with susceptibility to opportunistic infections ORPHA:183663 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:308230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606843 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190885 E (Exact mapping: the two concepts are equivalent) HIGM without susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells. Orphanet ICD-10:D80.5 ICD-11:4A01.1Y OMIM:605258 OMIM:608106 OMIM:608184 UMLS:C5190886 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183666 Hyper-IgM syndrome without susceptibility to opportunistic infections ORPHA:183666 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605258 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608106 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608184 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190886 E (Exact mapping: the two concepts are equivalent) MeSH:D000361 MedDRA:10001471 UMLS:C0001768 Europe AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.287 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.077 AND has_point_prevalence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.205 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.192 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_point_prevalence_average_value : 0.071 AND has_point_prevalence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.134 AND has_point_prevalence_range : 1-9 / 1 000 000 Turkey AND has_point_prevalence_average_value : 0.045 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.094 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183669 Agammaglobulinemia Category ORPHA:183669 MeSH:D000361 E (Exact mapping: the two concepts are equivalent) MedDRA:10001471 E (Exact mapping: the two concepts are equivalent) UMLS:C0001768 E (Exact mapping: the two concepts are equivalent) OBSOLETE: CVID due to TNFR deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Common variable immunodeficiency OBSOLETE: Common variable immunodeficiency due to TNFR deficiency ORPHA:183672 IgG subclass deficiency with IgA subclass deficiency Isolated IgG subclass deficiency Kappa-chain deficiency Selective IgG subclass deficiency Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. Orphanet ICD-10:D80.8 ICD-11:4A01.04 MeSH:C564131 OMIM:614102 UMLS:C3279824 Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency ORPHA:183675 ICD-10:D80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A01.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564131 E (Exact mapping: the two concepts are equivalent) OMIM:614102 E (Exact mapping: the two concepts are equivalent) UMLS:C3279824 E (Exact mapping: the two concepts are equivalent) Hermansky-Pudlak syndrome due to Adaptator-related protein complex 3 deficiency Hermansky-Pudlak syndrome with neutropenia Syndrome de Hermansky-Pudlak par déficit en adaptator-related protein complex 3 Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:608233 OMIM:617050 UMLS:C1842362 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype ORPHA:183678 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608233 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617050 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842362 E (Exact mapping: the two concepts are equivalent) Congenital functional defect of phagocyte Constitutional functional phagocyte defect ICD-11:4A00.0 UMLS:C5681846 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183681 Congenital functional phagocyte defect Category ORPHA:183681 ICD-11:4A00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681846 E (Exact mapping: the two concepts are equivalent) Rosenberg-Lohr syndrome Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Orphanet ICD-10:Q78.5 ICD-11:LD24.7 MeSH:C536935 OMIM:191420 UMLS:C1860615 Adolescent Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1837 Metaphyseal chondrodysplasia, Rosenberg type ORPHA:1837 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536935 E (Exact mapping: the two concepts are equivalent) OMIM:191420 E (Exact mapping: the two concepts are equivalent) UMLS:C1860615 E (Exact mapping: the two concepts are equivalent) Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. Orphanet ICD-10:D71 ICD-11:4A00.00 MeSH:C564275 OMIM:608203 OMIM:618987 UMLS:C1842398 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183707 Infantile LAD-like disease due to RAC2 deficiency ORPHA:183707 ICD-10:D71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C564275 E (Exact mapping: the two concepts are equivalent) OMIM:608203 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618987 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842398 E (Exact mapping: the two concepts are equivalent) ICD-11:4A00.2 UMLS:C5680530 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183710 Genetic susceptibility to infections due to particular pathogens Category ORPHA:183710 ICD-11:4A00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680530 E (Exact mapping: the two concepts are equivalent) OBSOLETE:Bacterial susceptibility due to TLR signaling pathway deficiency ORPHA:183713 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Primary immunodeficiency OBSOLETE: Other complex syndrome of primary immunodeficiency ORPHA:183716 UMLS:C5680528 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183731 Rare genetic gynecological and obstetrical diseases Category ORPHA:183731 UMLS:C5680528 E (Exact mapping: the two concepts are equivalent) UMLS:C5680531 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183734 Genetic gynecological tumor Category ORPHA:183734 UMLS:C5680531 E (Exact mapping: the two concepts are equivalent) UMLS:C5680527 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183757 Rare genetic intellectual disability Category ORPHA:183757 UMLS:C5680527 E (Exact mapping: the two concepts are equivalent) UMLS:C5680525 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183763 Rare genetic syndromic intellectual disability Category ORPHA:183763 UMLS:C5680525 E (Exact mapping: the two concepts are equivalent) UMLS:C5680526 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183770 Rare genetic immune disease Category ORPHA:183770 UMLS:C5680526 E (Exact mapping: the two concepts are equivalent) Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cartilage-hair hypoplasia OMIM:250460 UMLS:C1834821 Metaphyseal dysplasia without hypotrichosis ORPHA:1838 OMIM:250460 E (Exact mapping: the two concepts are equivalent) UMLS:C1834821 E (Exact mapping: the two concepts are equivalent) 17q11.2 FKHL20 ClinVar:FOXN1 Ensembl:ENSG00000109101 Genatlas:FOXN1 HGNC:12765 IUPHAR:2958 OMIM:600838 Reactome:O15353 SwissProt:O15353 FOXN1 forkhead box N1 2p13.1 CWH41 DER7 GCS1 glucosidase I processing A-glucosidase I ClinVar:MOGS Ensembl:ENSG00000115275 Genatlas:MOGS HGNC:24862 OMIM:601336 Reactome:Q13724 SwissProt:Q13724 MOGS mannosyl-oligosaccharide glucosidase 6p21.33 C6orf37 PBLT bCX105N19.6 ClinVar:DPCR1 Ensembl:ENSG00000168631 Genatlas:DPCR1 HGNC:21666 OMIM:613928 SwissProt:Q3MIW9 MUCL3 mucin like 3 14q11.2 CRP1 ClinVar:CEBPE Ensembl:ENSG00000092067 Genatlas:CEBPE HGNC:1836 OMIM:600749 SwissProt:Q15744 CEBPE CCAAT enhancer binding protein epsilon 11p15.5 ClinVar:TALDO1 Ensembl:ENSG00000177156 Genatlas:TALDO1 HGNC:11559 OMIM:602063 Reactome:P37837 SwissProt:P37837 TALDO1 transaldolase 1 9q34.2 KIAA0605 ClinVar:ADAMTSL2 Ensembl:ENSG00000197859 Genatlas:ADAMTSL2 HGNC:14631 OMIM:612277 Reactome:Q86TH1 SwissProt:Q86TH1 ADAMTSL2 ADAMTS like 2 Urban-Schosser-Spohn syndrome A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes. Orphanet ICD-10:K13.7 ICD-11:DA02.0 MeSH:C536476 OMIM:158310 UMLS:C1274795 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1839 Hereditary mucoepithelial dysplasia ORPHA:1839 ICD-10:K13.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA02.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536476 E (Exact mapping: the two concepts are equivalent) OMIM:158310 E (Exact mapping: the two concepts are equivalent) UMLS:C1274795 E (Exact mapping: the two concepts are equivalent) 19p13.3 B14.7 complex I B14.7 subunit ClinVar:NDUFA11 Ensembl:ENSG00000174886 Genatlas:NDUFA11 HGNC:20371 OMIM:612638 Reactome:Q86Y39 SwissProt:Q86Y39 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 2p21 HIF-1 alpha-like factor HIF2A HLF MOP2 PASD2 bHLHe73 ClinVar:EPAS1 Ensembl:ENSG00000116016 Genatlas:EPAS1 HGNC:3374 IUPHAR:3148 OMIM:603349 Reactome:Q99814 SwissProt:Q99814 EPAS1 endothelial PAS domain protein 1 mitochondria TRNL2 ClinVar:MT-TL2 Ensembl:ENSG00000210191 Genatlas:MT-TL2 HGNC:7491 OMIM:590055 MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 5p13.2 KIAA0791 N155 ClinVar:NUP155 Ensembl:ENSG00000113569 Genatlas:NUP155 HGNC:8063 OMIM:606694 Reactome:O75694 SwissProt:O75694 NUP155 nucleoporin 155 12q13.12 SHFM6 WNT-12 ClinVar:WNT10B Ensembl:ENSG00000169884 Genatlas:WNT10B HGNC:12775 OMIM:601906 Reactome:O00744 SwissProt:O00744 WNT10B Wnt family member 10B 11q22.3 DHC1b DHC2 DYH1B hdhc11 ClinVar:DYNC2H1 Ensembl:ENSG00000187240 Genatlas:DYNC2H1 HGNC:2962 OMIM:603297 Reactome:Q8NCM8 SwissProt:Q8NCM8 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 CRBM Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. Orphanet ICD-10:K10.8 ICD-11:LD24.22 MeSH:D002636 MedDRA:10070535 OMIM:118400 UMLS:C0008029 Autosomal dominant Autosomal recessive Not applicable Childhood Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=184 Cherubism ORPHA:184 ICD-10:K10.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002636 E (Exact mapping: the two concepts are equivalent) MedDRA:10070535 E (Exact mapping: the two concepts are equivalent) OMIM:118400 E (Exact mapping: the two concepts are equivalent) UMLS:C0008029 E (Exact mapping: the two concepts are equivalent) Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. Orphanet ICD-10:Q77.8 MeSH:C565896 OMIM:211120 UMLS:C1859407 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1842 Bone dysplasia, lethal Holmgren type ORPHA:1842 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565896 E (Exact mapping: the two concepts are equivalent) OMIM:211120 E (Exact mapping: the two concepts are equivalent) UMLS:C1859407 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with disorganized development of skeletal components OBSOLETE: Bone dysplasia, Azouz type ORPHA:1844 A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. Orphanet ICD-10:Q60.1 ICD-11:LB30.00 MeSH:C536482 OMIM:191830 OMIM:615721 OMIM:617805 OMIM:619887 UMLS:C1609433 Autosomal recessive Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 13.6 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 19.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 10.8 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 24.1 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Ukraine AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1848 Renal agenesis, bilateral Clinical subtype ORPHA:1848 ICD-10:Q60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB30.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536482 E (Exact mapping: the two concepts are equivalent) OMIM:191830 E (Exact mapping: the two concepts are equivalent) OMIM:615721 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617805 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:619887 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1609433 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic renal or urinary tract malformation OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome ORPHA:1849 Congenital pulmonary venolobar syndrome Epibronchial right pulmonary vein syndrome Halasz syndrome Hypogenetic lung syndrome Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. Orphanet ICD-10:Q26.8 ICD-11:LA86.22 MeSH:D012587 MedDRA:10051951 UMLS:C0036400 Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=185 Scimitar syndrome ORPHA:185 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA86.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012587 E (Exact mapping: the two concepts are equivalent) MedDRA:10051951 E (Exact mapping: the two concepts are equivalent) UMLS:C0036400 E (Exact mapping: the two concepts are equivalent) Selig-Benacerraf-Greene syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial caudal dysgenesis Renal dysplasia-megalocystis-sirenomelia syndrome ORPHA:1850 MCDK Multicystic renal dysplasia A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. Orphanet ICD-10:Q61.4 ICD-11:LB30.9 MeSH:D021782 UMLS:C3714581 Not applicable Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 23.26 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1851 Multicystic dysplastic kidney ORPHA:1851 ICD-10:Q61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB30.9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D021782 E (Exact mapping: the two concepts are equivalent) UMLS:C3714581 E (Exact mapping: the two concepts are equivalent) A rare genetic retinal disorder characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds causing gliosis and variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:Q14.1 OMIM:312550 UMLS:C4275241 X-linked recessive Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1852 X-linked retinal dysplasia ORPHA:1852 ICD-10:Q14.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:312550 E (Exact mapping: the two concepts are equivalent) UMLS:C4275241 E (Exact mapping: the two concepts are equivalent) SPENCD Spondyloenchondromatosis Spondylometaphyseal dysplasia with enchondromatous changes Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535782 OMIM:607944 UMLS:C0432222 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1855 Spondyloenchondrodysplasia ORPHA:1855 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535782 E (Exact mapping: the two concepts are equivalent) OMIM:607944 E (Exact mapping: the two concepts are equivalent) UMLS:C0432222 E (Exact mapping: the two concepts are equivalent) Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535799 OMIM:271700 UMLS:C4706658 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1856 Spondyloperipheral dysplasia-short ulna syndrome ORPHA:1856 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535799 E (Exact mapping: the two concepts are equivalent) OMIM:271700 E (Exact mapping: the two concepts are equivalent) UMLS:C4706658 E (Exact mapping: the two concepts are equivalent) Gurrieri-Sammito-Bellussi syndrome A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. Orphanet ICD-10:Q87.5 ICD-11:LD24.8Y MeSH:C537625 OMIM:601187 UMLS:C0796046 Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1858 Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537625 E (Exact mapping: the two concepts are equivalent) OMIM:601187 E (Exact mapping: the two concepts are equivalent) UMLS:C0796046 E (Exact mapping: the two concepts are equivalent) Hanot syndrome PBC Primary biliary cirrhosis A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis. Orphanet ICD-10:K74.3 ICD-11:DB96.1 MeSH:D008105 MedDRA:10080429 OMIM:109720 OMIM:613007 OMIM:613008 OMIM:614220 OMIM:614221 UMLS:C0008312 Multigenic/multifactorial Unknown Adolescent Adult Elderly Australia AND has_point_prevalence_average_value : 5.1 AND has_point_prevalence_range : 1-9 / 100 000 Brunei Darussalam AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Brunei Darussalam AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 22.7 AND has_point_prevalence_range : 1-5 / 10 000 China AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 2.57 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 18.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 36.5 AND has_point_prevalence_range : 1-5 / 10 000 Iceland AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_point_prevalence_average_value : 38.3 AND has_point_prevalence_range : 1-5 / 10 000 Israel AND has_point_prevalence_average_value : 5.5 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 13.2 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 19.5 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_annual_incidence_average_value : 2.3 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 4.5 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 40.2 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 21.05 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=186 Primary biliary cholangitis ORPHA:186 ICD-10:K74.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB96.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008105 E (Exact mapping: the two concepts are equivalent) MedDRA:10080429 E (Exact mapping: the two concepts are equivalent) OMIM:109720 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613007 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613008 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614221 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0008312 E (Exact mapping: the two concepts are equivalent) TD1 Thanatophoric dwarfism type 1 A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression. Orphanet ICD-10:Q77.1 ICD-11:LD24.02 MeSH:C566844 OMIM:187600 UMLS:C1868678 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1860 Thanatophoric dysplasia type 1 Clinical subtype ORPHA:1860 ICD-10:Q77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566844 E (Exact mapping: the two concepts are equivalent) OMIM:187600 E (Exact mapping: the two concepts are equivalent) UMLS:C1868678 E (Exact mapping: the two concepts are equivalent) A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.8 MeSH:C564774 OMIM:273730 UMLS:C1848864 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1861 Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564774 E (Exact mapping: the two concepts are equivalent) OMIM:273730 E (Exact mapping: the two concepts are equivalent) UMLS:C1848864 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Femoral trochlear groove insufficiency NON RARE IN EUROPE: Hypoplasia of the femoral trochlea This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Trochlear dysplasia ORPHA:1863 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using FLNA-related X-linked myxomatous valvular dysplasia OBSOLETE: Congenital valvular dysplasia ORPHA:1864 Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C537998 OMIM:224410 Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1865 Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537998 E (Exact mapping: the two concepts are equivalent) OMIM:224410 E (Exact mapping: the two concepts are equivalent) A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. Orphanet UMLS:C5680914 Autosomal dominant Adult Egypt AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 11.7 AND has_point_prevalence_range : 1-5 / 10 000 Iceland AND has_point_prevalence_average_value : 31.2 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_point_prevalence_average_value : 13.7 AND has_point_prevalence_range : 1-5 / 10 000 Serbia AND has_point_prevalence_average_value : 11.2 AND has_point_prevalence_range : 1-5 / 10 000 Thailand AND has_point_prevalence_average_value : 14.3 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 29.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1866 Focal, segmental or multifocal dystonia Category ORPHA:1866 UMLS:C5680914 E (Exact mapping: the two concepts are equivalent) A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q81.8 MeSH:C563065 OMIM:302000 UMLS:C0795974 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1867 Hereditary bullous dystrophy, macular type ORPHA:1867 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563065 E (Exact mapping: the two concepts are equivalent) OMIM:302000 E (Exact mapping: the two concepts are equivalent) UMLS:C0795974 E (Exact mapping: the two concepts are equivalent) Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms). Orphanet ICD-11:5C50.A3 MeSH:D020159 UMLS:C0175683 Autosomal recessive Adult Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=187 Citrullinemia Category ORPHA:187 ICD-11:5C50.A3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020159 E (Exact mapping: the two concepts are equivalent) UMLS:C0175683 E (Exact mapping: the two concepts are equivalent) Cone dystrophy A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. Orphanet ICD-10:H35.5 ICD-11:9B70 MedDRA:10083940 OMIM:180020 OMIM:300085 OMIM:304030 OMIM:602093 OMIM:613093 UMLS:C0271092 Autosomal dominant Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1871 Progressive cone dystrophy ORPHA:1871 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10083940 E (Exact mapping: the two concepts are equivalent) OMIM:180020 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300085 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:304030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602093 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613093 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0271092 E (Exact mapping: the two concepts are equivalent) A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:D000071700 MedDRA:10085521 OMIM:120970 OMIM:300476 OMIM:300834 OMIM:303700 OMIM:304020 OMIM:600624 OMIM:600977 OMIM:601777 OMIM:602093 OMIM:603649 OMIM:604116 OMIM:604393 OMIM:605549 OMIM:608194 OMIM:610283 OMIM:610381 OMIM:610478 OMIM:612657 OMIM:612775 OMIM:613660 OMIM:614500 OMIM:615163 OMIM:615374 OMIM:615860 OMIM:615973 OMIM:616502 OMIM:618555 OMIM:619531 UMLS:C4085590 Autosomal dominant Autosomal recessive X-linked recessive Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1872 Cone rod dystrophy ORPHA:1872 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000071700 E (Exact mapping: the two concepts are equivalent) MedDRA:10085521 E (Exact mapping: the two concepts are equivalent) OMIM:120970 E (Exact mapping: the two concepts are equivalent) OMIM:300476 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300834 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:303700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:304020 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600624 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600977 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601777 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602093 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:603649 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604116 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604393 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:605549 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608194 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610283 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610381 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610478 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612657 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612775 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613660 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615163 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615374 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615860 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615973 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616502 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618555 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619531 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4085590 E (Exact mapping: the two concepts are equivalent) Cone rod dystrophy-amelogenesis imperfecta syndrome Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term). Orphanet ICD-10:H35.5 ICD-11:LA30.6 MeSH:C000596385 OMIM:217080 UMLS:C3495589 Autosomal recessive Childhood Palestinian Territory, occupied AND has_point_prevalence_average_value : 8.3 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 49.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1873 Jalili syndrome ORPHA:1873 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000596385 E (Exact mapping: the two concepts are equivalent) OMIM:217080 E (Exact mapping: the two concepts are equivalent) UMLS:C3495589 E (Exact mapping: the two concepts are equivalent) Bassoe syndrome Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Orphanet ICD-10:G71.0 ICD-11:8C70.6 MeSH:C537661 OMIM:254000 UMLS:C2931578 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome ORPHA:1875 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537661 E (Exact mapping: the two concepts are equivalent) OMIM:254000 E (Exact mapping: the two concepts are equivalent) UMLS:C2931578 E (Exact mapping: the two concepts are equivalent) Visceral myopathy-familial external ophthalmoplegia syndrome Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. Orphanet ICD-10:G71.0 ICD-11:DA90.2 MeSH:C536350 OMIM:277320 UMLS:C1848586 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1876 Oculogastrointestinal muscular dystrophy ORPHA:1876 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536350 E (Exact mapping: the two concepts are equivalent) OMIM:277320 E (Exact mapping: the two concepts are equivalent) UMLS:C1848586 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Laminin subunit alpha 2-related congenital muscular dystrophy Muscular dystrophy-white matter spongiosis syndrome ORPHA:1877 Autosomal recessive limb-girdle muscular dystrophy type 2H LGMD due to TRIM32 deficiency LGMD type 2H LGMD2H Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 2H Sarcotubular myopathy TRIM32-related LGMD R8 A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C535897 OMIM:254110 UMLS:C0270968 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1878 TRIM32-related limb-girdle muscular dystrophy R8 ORPHA:1878 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535897 E (Exact mapping: the two concepts are equivalent) OMIM:254110 E (Exact mapping: the two concepts are equivalent) UMLS:C0270968 E (Exact mapping: the two concepts are equivalent) MSBD syndrome Mixed sclerosing bone dystrophy Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Orphanet ICD-10:M85.8 ICD-11:LD24.1Y MeSH:C563593 OMIM:166700 UMLS:C3149695 Autosomal dominant All ages Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1879 Melorheostosis with osteopoikilosis ORPHA:1879 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563593 E (Exact mapping: the two concepts are equivalent) OMIM:166700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3149695 E (Exact mapping: the two concepts are equivalent) Capillary hyperpermeability syndrome Capillary leak syndrome Clarkson disease Idiopathic capillary leak syndrome SCLS Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia. Orphanet ICD-10:I78.8 ICD-11:BD5Y MeSH:D019559 MedDRA:10007196 UMLS:C0343084 Not applicable Adult Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=188 Systemic capillary leak syndrome ORPHA:188 ICD-10:I78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019559 E (Exact mapping: the two concepts are equivalent) MedDRA:10007196 E (Exact mapping: the two concepts are equivalent) UMLS:C0343084 E (Exact mapping: the two concepts are equivalent) Ebstein anomaly of the tricuspid valve A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall. Orphanet ICD-10:Q22.5 ICD-11:LA87.03 MeSH:D004437 MedDRA:10014075 OMIM:224700 UMLS:C0013481 Autosomal dominant Not applicable All ages Austria AND has_birth_prevalence_average_value : 19.5 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 16.5 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 18.2 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.25 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 7.8 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 24.1 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 27.2 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 4.7 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1880 Ebstein malformation of the tricuspid valve ORPHA:1880 ICD-10:Q22.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA87.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004437 E (Exact mapping: the two concepts are equivalent) MedDRA:10014075 E (Exact mapping: the two concepts are equivalent) OMIM:224700 E (Exact mapping: the two concepts are equivalent) UMLS:C0013481 E (Exact mapping: the two concepts are equivalent) ANOTHER syndrome HEDH syndrome A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q82.4 ICD-11:LD27.02 MeSH:C565604 OMIM:225050 UMLS:C1857052 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ORPHA:1882 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565604 E (Exact mapping: the two concepts are equivalent) OMIM:225050 E (Exact mapping: the two concepts are equivalent) UMLS:C1857052 E (Exact mapping: the two concepts are equivalent) Ectodermal dysplasia-sensorineural hearing loss syndrome A rare ectodermal dysplasia syndrome characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. Thoracic scoliosis can also be present. There have been no further descriptions in the literature since 1970. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y OMIM:224800 UMLS:C4518541 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1883 Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:224800 E (Exact mapping: the two concepts are equivalent) UMLS:C4518541 E (Exact mapping: the two concepts are equivalent) Noble-Bass-Sherman syndrome A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients. Orphanet ICD-10:Q15.8 ICD-11:LA12.Y MeSH:C536124 UMLS:C2931115 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome ORPHA:1884 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536124 E (Exact mapping: the two concepts are equivalent) UMLS:C2931115 E (Exact mapping: the two concepts are equivalent) Ectopia lentis syndrome Familial ectopia lentis Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. Orphanet ICD-10:Q12.1 ICD-11:LA12.Y MeSH:D004479 MedDRA:10014145 OMIM:129600 OMIM:225100 OMIM:225200 UMLS:C1851286 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 90.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1885 Isolated ectopia lentis ORPHA:1885 ICD-10:Q12.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004479 E (Exact mapping: the two concepts are equivalent) MedDRA:10014145 E (Exact mapping: the two concepts are equivalent) OMIM:129600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:225100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:225200 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1851286 E (Exact mapping: the two concepts are equivalent) EEC syndrome without cleft lip/palate This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to EEC syndrome OMIM:129810 UMLS:C1851849 Ectrodactyly-ectodermal dysplasia without clefting syndrome ORPHA:1888 OMIM:129810 E (Exact mapping: the two concepts are equivalent) UMLS:C1851849 E (Exact mapping: the two concepts are equivalent) 6p21.32 KIAA1938 RASA5 SYNGAP ClinVar:SYNGAP1 Ensembl:ENSG00000197283 Genatlas:SYNGAP1 HGNC:11497 OMIM:603384 Reactome:Q96PV0 SwissProt:Q96PV0 SYNGAP1 synaptic Ras GTPase activating protein 1 1q23.3 ClinVar:APOA2 Ensembl:ENSG00000158874 Genatlas:APOA2 HGNC:601 OMIM:107670 Reactome:P02652 SwissProt:P02652 APOA2 apolipoprotein A2 ECP syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to EEC syndrome OMIM:129830 UMLS:C1851848 Ectrodactyly-cleft palate syndrome ORPHA:1889 OMIM:129830 E (Exact mapping: the two concepts are equivalent) UMLS:C1851848 E (Exact mapping: the two concepts are equivalent) Clouston syndrome Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. Orphanet ICD-10:Q82.8 ICD-11:LD27.03 ICD-11:LD27.0Y OMIM:129500 UMLS:C0162361 Autosomal dominant Childhood Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=189 Hidrotic ectodermal dysplasia ORPHA:189 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:129500 E (Exact mapping: the two concepts are equivalent) UMLS:C0162361 E (Exact mapping: the two concepts are equivalent) Jancar syndrome Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Orphanet ICD-10:Q87.2 MeSH:C537446 OMIM:246555 UMLS:C0796001 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1891 Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537446 E (Exact mapping: the two concepts are equivalent) OMIM:246555 E (Exact mapping: the two concepts are equivalent) UMLS:C0796001 E (Exact mapping: the two concepts are equivalent) 11q13.1 ClinVar:LTBP3 Ensembl:ENSG00000168056 Genatlas:LTBP3 HGNC:6716 OMIM:602090 Reactome:Q9NS15 SwissProt:Q9NS15 LTBP3 latent transforming growth factor beta binding protein 3 5q31.2 KIAA0723 MGC9105 VCPDM ClinVar:MATR3 Ensembl:ENSG00000015479 Genatlas:MATR3 HGNC:6912 OMIM:164015 Reactome:P43243 SwissProt:P43243 MATR3 matrin 3 Xp22.12 S2P site-2 protease sterol regulatory element-binding proteins intramembrane protease ClinVar:MBTPS2 Ensembl:ENSG00000012174 Genatlas:MBTPS2 HGNC:15455 OMIM:300294 Reactome:O43462 SwissProt:O43462 MBTPS2 membrane bound transcription factor peptidase, site 2 2q31.1 ClinVar:HOXD10 Ensembl:ENSG00000128710 Genatlas:HOXD10 HGNC:5133 OMIM:142984 SwissProt:P28358 HOXD10 homeobox D10 Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q69.9 ICD-10:Q73.8 OMIM:225290 UMLS:C4749762 Antenatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1892 Ectrodactyly-polydactyly syndrome ORPHA:1892 ICD-10:Q69.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:225290 E (Exact mapping: the two concepts are equivalent) UMLS:C4749762 E (Exact mapping: the two concepts are equivalent) Xq28 XMEA ClinVar:VMA21 Ensembl:ENSG00000160131 Genatlas:VMA21 HGNC:22082 OMIM:300913 SwissProt:Q3ZAQ7 VMA21 vacuolar ATPase assembly factor VMA21 1p13.3 ClinVar:ALX3 Ensembl:ENSG00000156150 Genatlas:ALX3 HGNC:449 OMIM:606014 SwissProt:O95076 ALX3 ALX homeobox 3 7q32.2 hsa-mir-96 ClinVar:MIR96 Ensembl:ENSG00000199158 Genatlas:MIR96 HGNC:31648 OMIM:611606 MIR96 microRNA 96 13q13.3 SMAD8 SMAD8/9 ClinVar:SMAD9 Ensembl:ENSG00000120693 Genatlas:SMAD9 HGNC:6774 OMIM:603295 Reactome:O15198 SwissProt:O15198 SMAD9 SMAD family member 9 1q23.2 Kir1.2 Kir4.1 ClinVar:KCNJ10 Ensembl:ENSG00000177807 Genatlas:KCNJ10 HGNC:6256 IUPHAR:438 OMIM:602208 Reactome:P78508 SwissProt:P78508 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 14q24.3 ClinVar:LTBP2 Ensembl:ENSG00000119681 Genatlas:LTBP2 HGNC:6715 OMIM:602091 Reactome:Q14767 SwissProt:Q14767 LTBP2 latent transforming growth factor beta binding protein 2 Kasznica-Carlson-Coppedge syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acrocardiofacial syndrome UMLS:C2931393 Ectrodactyly-spina bifida-cardiopathy syndrome ORPHA:1894 UMLS:C2931393 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Adrenal Cushing syndrome OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia ORPHA:189424 CS due to BMACD CS due to BMAD Cushing syndrome due to BMACD Cushing syndrome due to BMAD Cushing syndrome due to macronodular adrenal hyperplasia Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described. Orphanet ICD-10:E24.8 OMIM:219080 OMIM:615954 UMLS:C2062388 Autosomal dominant Not applicable All ages Europe AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=189427 Cushing syndrome due to bilateral macronodular adrenocortical disease ORPHA:189427 ICD-10:E24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:219080 E (Exact mapping: the two concepts are equivalent) OMIM:615954 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2062388 E (Exact mapping: the two concepts are equivalent) OBSOLETE: PPNAD OBSOLETE: Primary pigmented nodular adrenal dysplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated primary pigmented nodular adrenocortical disease OBSOLETE: Primary pigmented nodular adrenocortical disease ORPHA:189439 A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts. Orphanet ICD-10:E20.8 ICD-11:5A50.0Y OMIM:146200 UMLS:C5680524 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=189466 Familial isolated hypoparathyroidism due to impaired PTH secretion Clinical subtype ORPHA:189466 ICD-10:E20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:146200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680524 E (Exact mapping: the two concepts are equivalent) Typus Edinburgensis Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q95.2 MeSH:C563051 OMIM:129850 UMLS:C0795933 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1895 Edinburgh malformation syndrome ORPHA:1895 ICD-10:Q95.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563051 E (Exact mapping: the two concepts are equivalent) OMIM:129850 E (Exact mapping: the two concepts are equivalent) UMLS:C0795933 E (Exact mapping: the two concepts are equivalent) Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C536189 OMIM:129900 OMIM:604292 UMLS:C0406704 Autosomal dominant Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 1.11 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1896 EEC syndrome ORPHA:1896 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536189 E (Exact mapping: the two concepts are equivalent) OMIM:129900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604292 E (Exact mapping: the two concepts are equivalent) UMLS:C0406704 E (Exact mapping: the two concepts are equivalent) Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C536190 OMIM:225280 UMLS:C1857041 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1897 EEM syndrome ORPHA:1897 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536190 E (Exact mapping: the two concepts are equivalent) OMIM:225280 E (Exact mapping: the two concepts are equivalent) UMLS:C1857041 E (Exact mapping: the two concepts are equivalent) Arthrochalasia EDS Arthrochalasis multiplex congenita EDS VII Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome, arthrochalasia type aEDS A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:130060 OMIM:617821 UMLS:C0268345 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1899 Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:130060 E (Exact mapping: the two concepts are equivalent) OMIM:617821 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268345 E (Exact mapping: the two concepts are equivalent) 2-hydroxyglutaric acidemia 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. Orphanet MeSH:C535306 MedDRA:10078971 UMLS:C2746066 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=19 2-hydroxyglutaric aciduria Clinical group ORPHA:19 MeSH:C535306 E (Exact mapping: the two concepts are equivalent) MedDRA:10078971 E (Exact mapping: the two concepts are equivalent) UMLS:C2746066 E (Exact mapping: the two concepts are equivalent) Congenital retinal telangiectasia Leber miliary aneurysm Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. Orphanet ICD-10:H35.0 ICD-11:LD21.Y MeSH:D058456 MedDRA:10015901 OMIM:300216 UMLS:C0154832 Not applicable Childhood United Kingdom AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=190 Coats disease ORPHA:190 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058456 E (Exact mapping: the two concepts are equivalent) MedDRA:10015901 E (Exact mapping: the two concepts are equivalent) OMIM:300216 E (Exact mapping: the two concepts are equivalent) UMLS:C0154832 E (Exact mapping: the two concepts are equivalent) Cutis hyperelastica EDS VIA Ehlers-Danlos syndrome type 6A Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency Lysyl hydroxylase-deficient EDS Ocular-scoliotic EDS kEDS-PLOD1 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low&#8208;set ears, epicanthal folds, down&#8208;slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:225400 UMLS:C0268342 Autosomal recessive Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Clinical subtype ORPHA:1900 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:225400 E (Exact mapping: the two concepts are equivalent) UMLS:C0268342 E (Exact mapping: the two concepts are equivalent) Dermatosparaxis EDS Ehlers-Danlos syndrome type 7C Human dermatosparaxis EDS VIIC dEDS A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:225410 UMLS:C2700425 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1901 Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:225410 E (Exact mapping: the two concepts are equivalent) UMLS:C2700425 E (Exact mapping: the two concepts are equivalent) A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE). Orphanet ICD-10:A48.8 ICD-11:1C3Y MeSH:D016873 UMLS:C0085399 All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1902 Ehrlichiosis ORPHA:1902 ICD-10:A48.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016873 E (Exact mapping: the two concepts are equivalent) UMLS:C0085399 E (Exact mapping: the two concepts are equivalent) Fetal valproate syndrome Fetal valproic acid syndrome Valproic acid embryopathy A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). Orphanet ICD-10:Q86.8 ICD-11:LD2F.03 MeSH:C536525 MedDRA:10016524 OMIM:609442 UMLS:C0236026 Not applicable Antenatal Childhood Infancy Neonatal Belgium AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.02 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Reunion AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1906 Fetal valproate spectrum disorder ORPHA:1906 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536525 E (Exact mapping: the two concepts are equivalent) MedDRA:10016524 E (Exact mapping: the two concepts are equivalent) OMIM:609442 E (Exact mapping: the two concepts are equivalent) UMLS:C0236026 E (Exact mapping: the two concepts are equivalent) Aminopterin embryopathy syndrome Fetal aminopterin syndrome A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y MedDRA:10071183 UMLS:C0432367 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1908 Aminopterin/methotrexate embryofetopathy ORPHA:1908 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10071183 E (Exact mapping: the two concepts are equivalent) UMLS:C0432367 E (Exact mapping: the two concepts are equivalent) Fetal indomethacin syndrome Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitis in preterm infants. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y UMLS:C4275138 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1909 Indomethacin embryofetopathy ORPHA:1909 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275138 E (Exact mapping: the two concepts are equivalent) Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. Orphanet ICD-10:Q87.1 ICD-11:LD2B MeSH:D003057 MedDRA:10009835 OMIM:133540 OMIM:214150 OMIM:216400 OMIM:278780 OMIM:610756 OMIM:610758 OMIM:616570 UMLS:C0009207 Autosomal recessive All ages Europe AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.18 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.09 AND has_birth_prevalence_range : <1 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=191 Cockayne syndrome ORPHA:191 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D003057 E (Exact mapping: the two concepts are equivalent) MedDRA:10009835 E (Exact mapping: the two concepts are equivalent) OMIM:133540 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:214150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:216400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610756 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610758 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616570 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0009207 E (Exact mapping: the two concepts are equivalent) Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). Orphanet ICD-10:P72.2 ICD-11:5A00.03 OMIM:228355 UMLS:C4273860 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1910 Fetal iodine syndrome ORPHA:1910 ICD-10:P72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:228355 E (Exact mapping: the two concepts are equivalent) UMLS:C4273860 E (Exact mapping: the two concepts are equivalent) Fetal cocaine syndrome Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed <i>in utero</i> to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y UMLS:C0432371 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1911 Cocaine embryofetopathy ORPHA:1911 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0432371 E (Exact mapping: the two concepts are equivalent) Fetal dihydantoin syndrome Phenytoin embryofetopathy A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported. Orphanet ICD-10:Q86.1 ICD-11:LA07.1 MeSH:C537922 MedDRA:10016508 UMLS:C0265372 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1912 Fetal hydantoin syndrome ORPHA:1912 ICD-10:Q86.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA07.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537922 E (Exact mapping: the two concepts are equivalent) MedDRA:10016508 E (Exact mapping: the two concepts are equivalent) UMLS:C0265372 E (Exact mapping: the two concepts are equivalent) A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y MeSH:C537798 UMLS:C0265373 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1913 Fetal trimethadione syndrome ORPHA:1913 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537798 E (Exact mapping: the two concepts are equivalent) UMLS:C0265373 E (Exact mapping: the two concepts are equivalent) Vitamin K antagonist embryopathy Warfarin embryofetopathy Warfarin embryopathy di Sala syndrome Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia. Orphanet ICD-10:Q86.2 ICD-11:LD2F.02 MeSH:C536683 MedDRA:10051445 UMLS:C0265374 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1914 Vitamin K antagonist embryofetopathy ORPHA:1914 ICD-10:Q86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536683 E (Exact mapping: the two concepts are equivalent) MedDRA:10051445 E (Exact mapping: the two concepts are equivalent) UMLS:C0265374 E (Exact mapping: the two concepts are equivalent) ARBD ARND Alcohol-related birth defects Alcohol-related neurodevelopmental disorder FAS FASD Fetal alcohol spectrum disorders Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). Orphanet ICD-10:Q86.0 ICD-11:LD2F.00 MeSH:D063647 MedDRA:10016845 UMLS:C0015923 Not applicable Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 13.6 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 14.8 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 8.1 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 South Africa AND has_point_prevalence_average_value : 6800.0 AND has_point_prevalence_range : >1 / 1000 Spain AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 80.8 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1915 Fetal alcohol syndrome ORPHA:1915 ICD-10:Q86.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD2F.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D063647 E (Exact mapping: the two concepts are equivalent) MedDRA:10016845 E (Exact mapping: the two concepts are equivalent) UMLS:C0015923 E (Exact mapping: the two concepts are equivalent) DES embryofetopathy DES syndrome Diethylstilbestrol embryofetopathy Distilbene embryofetopathy A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. Orphanet ICD-10:Q86.8 ICD-11:LB44.6 MedDRA:10012780 UMLS:C0853695 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1916 Diethylstilbestrol syndrome ORPHA:1916 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10012780 E (Exact mapping: the two concepts are equivalent) UMLS:C0853695 E (Exact mapping: the two concepts are equivalent) Congenital Minamata disease Fetal methylmercury poisoning Intrauterine methylmercury poisoning Prenatal methylmercury poisoning A toxic embryofetopathy characterized by a group of symptoms with unspecific neurologic involvement that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. Orphanet ICD-10:T56.1 ICD-11:LD2F.0Y UMLS:C0265376 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1917 Fetal methylmercury syndrome ORPHA:1917 ICD-10:T56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265376 E (Exact mapping: the two concepts are equivalent) Minoxidil antenatal exposure Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y UMLS:C0432373 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1918 Fetal minoxidil syndrome ORPHA:1918 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0432373 E (Exact mapping: the two concepts are equivalent) A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, &#64257;nger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y UMLS:C4275281 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1919 Phenobarbital embryopathy ORPHA:1919 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275281 E (Exact mapping: the two concepts are equivalent) CLS A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and <i>pectus carinatum/excavatum</i>. Intellectual disability ranges from mild to severe. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:D038921 MedDRA:10081806 OMIM:303600 UMLS:C0265252 X-linked dominant Childhood Infancy Neonatal Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=192 Coffin-Lowry syndrome ORPHA:192 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D038921 E (Exact mapping: the two concepts are equivalent) MedDRA:10081806 E (Exact mapping: the two concepts are equivalent) OMIM:303600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265252 E (Exact mapping: the two concepts are equivalent) A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y UMLS:C2931737 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1920 Toluene embryopathy ORPHA:1920 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2931737 E (Exact mapping: the two concepts are equivalent) MMI/CMZ embryofetopathy MMI/CMZ embryopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y UMLS:C4510379 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1923 Methimazole embryofetopathy ORPHA:1923 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4510379 E (Exact mapping: the two concepts are equivalent) Diabetes-induced teratogenicity A rare teratologic disease characterized by a range of congenital anomalies associated with poorly controlled maternal diabetes, frequently including abnormalities of the cardiovascular or central nervous system as well as other organ systems, such as skeletal and craniofacial systems. In addition to embryopathy, uncontrolled maternal diabetes can lead to fetal/neonatal complications (including metabolic, respiratory or delivery complications). Orphanet ICD-10:P00.4 ICD-11:KB60.1 UMLS:C3830518 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1926 Diabetic embryopathy ORPHA:1926 ICD-10:P00.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KB60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3830518 E (Exact mapping: the two concepts are equivalent) Hand and foot deformity-flat facies syndrome A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. Orphanet ICD-10:Q87.8 OMIM:139750 UMLS:C4751229 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1927 Emery-Nelson syndrome ORPHA:1927 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:139750 E (Exact mapping: the two concepts are equivalent) UMLS:C4751229 E (Exact mapping: the two concepts are equivalent) Congenital lobar hyperinflation Infantile lobar hyperinflation A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung. Orphanet ICD-10:Q33.8 ICD-11:LA75.5 MeSH:C535735 MedDRA:10010456 OMIM:130710 UMLS:C0265797 Not applicable Adult Childhood Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1928 Congenital lobar emphysema ORPHA:1928 ICD-10:Q33.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535735 E (Exact mapping: the two concepts are equivalent) MedDRA:10010456 E (Exact mapping: the two concepts are equivalent) OMIM:130710 E (Exact mapping: the two concepts are equivalent) UMLS:C0265797 E (Exact mapping: the two concepts are equivalent) Rasmussen syndrome A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy. Orphanet ICD-10:G04.8 ICD-11:8A62.Y MeSH:C535291 MedDRA:10071141 UMLS:C2930868 Not applicable Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1929 Rasmussen subacute encephalitis ORPHA:1929 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:8A62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535291 E (Exact mapping: the two concepts are equivalent) MedDRA:10071141 E (Exact mapping: the two concepts are equivalent) UMLS:C2930868 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. Orphanet ICD-10:Q87.8 ICD-11:LD90.Y MeSH:C536438 MedDRA:10049066 OMIM:216550 UMLS:C0265223 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=193 Cohen syndrome ORPHA:193 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536438 E (Exact mapping: the two concepts are equivalent) MedDRA:10049066 E (Exact mapping: the two concepts are equivalent) OMIM:216550 E (Exact mapping: the two concepts are equivalent) UMLS:C0265223 E (Exact mapping: the two concepts are equivalent) HSE HSV encephalitis HSVE Herpes simplex meningo-encephalitis Herpes simplex neuroinvasion Herpetic encephalitis A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. Orphanet ICD-10:B00.4+ ICD-10:G05.1* ICD-11:1F00.21 MeSH:D020803 OMIM:610551 OMIM:613002 OMIM:614849 OMIM:614850 OMIM:616532 OMIM:617900 UMLS:C0276226 Multigenic/multifactorial Not applicable All ages Europe AND has_point_prevalence_range : Unknown United Kingdom AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1930 Herpes simplex virus encephalitis ORPHA:1930 ICD-10:B00.4+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:G05.1* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F00.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020803 E (Exact mapping: the two concepts are equivalent) OMIM:610551 E (Exact mapping: the two concepts are equivalent) OMIM:613002 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614849 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614850 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616532 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617900 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0276226 E (Exact mapping: the two concepts are equivalent) Anterior encephalocele ICD-10:Q01.0 ICD-11:LA01 UMLS:C0431289 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1931 Frontal encephalocele Clinical subtype ORPHA:1931 ICD-10:Q01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431289 E (Exact mapping: the two concepts are equivalent) Booth-Haworth-Dilling syndrome Mitochondrial encephalomyopathy-aminoacidopathy syndrome mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria. Orphanet ICD-10:G71.3 ICD-11:5C53.20 OMIM:612073 UMLS:C2749864 Mitochondrial inheritance Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612073 E (Exact mapping: the two concepts are equivalent) UMLS:C2749864 E (Exact mapping: the two concepts are equivalent) EIEE Early infantile epileptic encephalopathy with suppression-bursts Ohtahara syndrome A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death. Orphanet ICD-10:G40.3 ICD-11:8A62.Y MedDRA:10071545 OMIM:300672 OMIM:308350 OMIM:609304 OMIM:612164 OMIM:613402 OMIM:613721 OMIM:616341 OMIM:617105 OMIM:617276 OMIM:617281 OMIM:617350 OMIM:617389 OMIM:617391 OMIM:617493 OMIM:617599 OMIM:618548 OMIM:619340 UMLS:C0393706 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Neonatal Europe AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1934 Early infantile epileptic encephalopathy ORPHA:1934 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10071545 E (Exact mapping: the two concepts are equivalent) OMIM:300672 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612164 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613402 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613721 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616341 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617105 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617276 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617281 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617389 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617391 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617493 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617599 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618548 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619340 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0393706 E (Exact mapping: the two concepts are equivalent) Early myoclonic encephalopathy with suppression-bursts This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Early infantile epileptic encephalopathy UMLS:C0270855 Early myoclonic encephalopathy ORPHA:1935 UMLS:C0270855 E (Exact mapping: the two concepts are equivalent) Short stature-locking fingers syndrome A rare malformation syndrome with short stature characterized by intrauterine growth retardation and intermittent locking of the finger joints. Ventricular septal defect can also be present. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.1 OMIM:135950 UMLS:C4512073 Autosomal dominant Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1937 Eng-Strom syndrome ORPHA:1937 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:135950 E (Exact mapping: the two concepts are equivalent) UMLS:C4512073 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Envenomization by the Martinique lancehead viper This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Snakebite envenomation OBSOLETE: Envenomization by Bothrops lanceolatus ORPHA:1939 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Developmental defect of the eye OBSOLETE: Ocular coloboma ORPHA:194 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Holt-Oram syndrome Shoulder and thorax deformity-congenital heart disease syndrome ORPHA:1940 JAE Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. Orphanet ICD-10:G40.3 ICD-11:8A61.31 MedDRA:10085031 OMIM:607631 UMLS:C4317339 Multigenic/multifactorial Unknown Adolescent Europe AND has_annual_incidence_average_value : 7.5 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1941 Juvenile absence epilepsy ORPHA:1941 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10085031 E (Exact mapping: the two concepts are equivalent) OMIM:607631 E (Exact mapping: the two concepts are equivalent) UMLS:C4317339 E (Exact mapping: the two concepts are equivalent) Doose syndrome EMAS Epilepsy with myoclonic-astatic seizures Epilepsy with myoclonic-atonic seizures MAE Myoclonic atonic epilepsy Myoclonic-astatic epilepsy in early childhood A rare, childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children. Orphanet ICD-10:G40.4 ICD-11:8A61.22 MedDRA:10081179 OMIM:615369 OMIM:616421 OMIM:618587 UMLS:C0393702 Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1942 Myoclonic-astatic epilepsy ORPHA:1942 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10081179 E (Exact mapping: the two concepts are equivalent) OMIM:615369 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616421 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618587 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0393702 E (Exact mapping: the two concepts are equivalent) A rare infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. The focal continuous myoclonus (lasting from dozens of minutes to hours) is observed in the first months of life. During disease progression, prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occur and eventually progressive encephalopathy with hypotonia and ataxia is observed. All patients reported to have cortical atrophy. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:G40.4 UMLS:C4510564 Unknown Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1943 Early-onset progressive encephalopathy with migrant continuous myoclonus ORPHA:1943 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510564 E (Exact mapping: the two concepts are equivalent) BECRS BECTS BRE Benign epilepsy of childhood with centrotemporal spikes Benign familial epilepsy of childhood with rolandic spikes Benign rolandic epilepsy Centrotemporal epilepsy Rolandic epilepsy SeLECTS Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. Orphanet ICD-10:G40.0 ICD-11:8A61.20 MeSH:D019305 MedDRA:10070530 OMIM:117100 OMIM:245570 UMLS:C0376532 Autosomal dominant Childhood Sweden AND has_annual_incidence_average_value : 20.0 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1945 Self-limited epilepsy with centrotemporal spikes ORPHA:1945 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D019305 E (Exact mapping: the two concepts are equivalent) MedDRA:10070530 E (Exact mapping: the two concepts are equivalent) OMIM:117100 E (Exact mapping: the two concepts are equivalent) OMIM:245570 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0376532 E (Exact mapping: the two concepts are equivalent) Epilepsy-dementia-amelogenesis imperfecta syndrome Kohlschütter-Tönz syndrome A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Orphanet ICD-10:G40.8 ICD-11:LD27.0Y MeSH:C537213 OMIM:226750 UMLS:C0406740 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1946 Amelocerebrohypohidrotic syndrome ORPHA:1946 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537213 E (Exact mapping: the two concepts are equivalent) OMIM:226750 E (Exact mapping: the two concepts are equivalent) UMLS:C0406740 E (Exact mapping: the two concepts are equivalent) CLN8 disease, Northern epilepsy variant NCL, Northern epilepsy variant Neuronal ceroid lipofuscinosis, Northern epilepsy variant Northern epilepsy Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. Orphanet ICD-10:E75.4 ICD-11:5C56.1 OMIM:610003 UMLS:C1864923 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1947 Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947 ICD-10:E75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610003 E (Exact mapping: the two concepts are equivalent) UMLS:C1864923 E (Exact mapping: the two concepts are equivalent) Battaglia-Neri syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or <i>pectus excavatum</i>, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q87.8 MeSH:C537662 OMIM:601352 UMLS:C2931579 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1948 Epilepsy-microcephaly-skeletal dysplasia syndrome ORPHA:1948 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537662 E (Exact mapping: the two concepts are equivalent) OMIM:601352 E (Exact mapping: the two concepts are equivalent) UMLS:C2931579 E (Exact mapping: the two concepts are equivalent) BFNS Benign familial neonatal convulsions Benign familial neonatal epilepsy Benign familial neonatal seizures SeLNE Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. Orphanet ICD-10:G40.3 ICD-11:8A61.0Y MedDRA:10067866 OMIM:121200 OMIM:121201 OMIM:269720 OMIM:608217 UMLS:C0220669 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 100.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1949 Self-limited neonatal epilepsy ORPHA:1949 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10067866 E (Exact mapping: the two concepts are equivalent) OMIM:121200 E (Exact mapping: the two concepts are equivalent) OMIM:121201 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:269720 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608217 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220669 E (Exact mapping: the two concepts are equivalent) CES Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Orphanet ICD-10:Q92.8 ICD-11:LD41.P MeSH:C535918 OMIM:115470 UMLS:C0265493 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=195 Cat-eye syndrome ORPHA:195 ICD-10:Q92.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.P - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535918 E (Exact mapping: the two concepts are equivalent) OMIM:115470 E (Exact mapping: the two concepts are equivalent) UMLS:C0265493 E (Exact mapping: the two concepts are equivalent) A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). There have been no further descriptions in the literature since 1978. Orphanet ICD-10:G40.8 MeSH:C535497 OMIM:226850 UMLS:C4518554 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1951 Epilepsy-telangiectasia syndrome ORPHA:1951 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535497 E (Exact mapping: the two concepts are equivalent) OMIM:226850 E (Exact mapping: the two concepts are equivalent) UMLS:C4518554 E (Exact mapping: the two concepts are equivalent) Pacman dysplasia A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. Orphanet ICD-10:Q77.8 ICD-11:FB86.2 MeSH:C538095 OMIM:167220 UMLS:C1833676 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome ORPHA:1952 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538095 E (Exact mapping: the two concepts are equivalent) OMIM:167220 E (Exact mapping: the two concepts are equivalent) UMLS:C1833676 E (Exact mapping: the two concepts are equivalent) A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q82.8 MeSH:C535513 OMIM:227090 UMLS:C1856898 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1954 Congenital lethal erythroderma ORPHA:1954 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535513 E (Exact mapping: the two concepts are equivalent) OMIM:227090 E (Exact mapping: the two concepts are equivalent) UMLS:C1856898 E (Exact mapping: the two concepts are equivalent) Erythrokeratodermia with ataxia SCA34 Spinocerebellar ataxia and erythrokeratodermia An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Orphanet ICD-10:G11.1 ICD-11:8A03.16 MeSH:C535738 OMIM:133190 UMLS:C1851481 Autosomal dominant Adolescent Adult Neonatal Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1955 Spinocerebellar ataxia type 34 ORPHA:1955 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535738 E (Exact mapping: the two concepts are equivalent) OMIM:133190 E (Exact mapping: the two concepts are equivalent) UMLS:C1851481 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary erythromelalgia OBSOLETE: Erythromelalgia ORPHA:1956 Olfactory neuroblastoma Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases. Orphanet ICD-10:C30.0 ICD-11:2C20.3 ICD-11:XH50L1 MeSH:D018304 UMLS:C0206717 Not applicable Adult Elderly Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1957 Esthesioneuroblastoma ORPHA:1957 ICD-10:C30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C20.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH50L1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018304 E (Exact mapping: the two concepts are equivalent) UMLS:C0206717 E (Exact mapping: the two concepts are equivalent) Autoimmune hemolytic anemia and autoimmune thrombocytopenia Immune pancytopenia A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. Orphanet ICD-10:D69.3 ICD-11:3A20.5 MeSH:C536380 MedDRA:10053873 UMLS:C0272126 Not applicable Adult Childhood Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1959 Evans syndrome ORPHA:1959 ICD-10:D69.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A20.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536380 E (Exact mapping: the two concepts are equivalent) MedDRA:10053873 E (Exact mapping: the two concepts are equivalent) UMLS:C0272126 E (Exact mapping: the two concepts are equivalent) An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.5 ICD-11:LD24.21 OMIM:133690 UMLS:C4518772 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1962 Exostoses-anetodermia-brachydactyly type E syndrome ORPHA:1962 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:133690 E (Exact mapping: the two concepts are equivalent) UMLS:C4518772 E (Exact mapping: the two concepts are equivalent) Char-Douglas-Dungan syndrome Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q87.1 OMIM:133750 UMLS:C4749763 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:133750 E (Exact mapping: the two concepts are equivalent) UMLS:C4749763 E (Exact mapping: the two concepts are equivalent) Blepharophimosis-telecanthus-microstomia syndrome Simosa craniofacial syndrome Simosa-Penchaszadeh-Bustos syndrome Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q87.0 MeSH:C537339 OMIM:182150 UMLS:C1866962 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1968 Flat face-microstomia-ear anomaly syndrome ORPHA:1968 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537339 E (Exact mapping: the two concepts are equivalent) OMIM:182150 E (Exact mapping: the two concepts are equivalent) UMLS:C1866962 E (Exact mapping: the two concepts are equivalent) FACES syndrome Friedman-Goodman syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984. Orphanet ICD-10:Q87.0 MeSH:C536384 UMLS:C2931183 Unknown No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome ORPHA:1969 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536384 E (Exact mapping: the two concepts are equivalent) UMLS:C2931183 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:Q87.8 OMIM:220219 UMLS:C4518773 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:220219 E (Exact mapping: the two concepts are equivalent) UMLS:C4518773 E (Exact mapping: the two concepts are equivalent) An extremely rare polymalformative syndrome. Orphanet ICD-10:Q87.8 MeSH:C565578 OMIM:227270 UMLS:C1856891 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1972 Lethal faciocardiomelic dysplasia ORPHA:1972 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565578 E (Exact mapping: the two concepts are equivalent) OMIM:227270 E (Exact mapping: the two concepts are equivalent) UMLS:C1856891 E (Exact mapping: the two concepts are equivalent) Eastman-Bixler syndrome A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Orphanet ICD-10:Q87.8 MeSH:C536388 OMIM:227280 UMLS:C0795936 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1973 Faciocardiorenal syndrome ORPHA:1973 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536388 E (Exact mapping: the two concepts are equivalent) OMIM:227280 E (Exact mapping: the two concepts are equivalent) UMLS:C0795936 E (Exact mapping: the two concepts are equivalent) Aarskog-like syndrome Facio-digito-genital syndrome, Kuwait type Teebi-Naguib-Alawadi syndrome A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. Orphanet ICD-10:Q87.8 OMIM:227330 UMLS:C1856871 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1974 Autosomal recessive faciodigitogenital syndrome ORPHA:1974 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:227330 E (Exact mapping: the two concepts are equivalent) UMLS:C1856871 E (Exact mapping: the two concepts are equivalent) Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Hoepffner-Dreyer-Reimers syndrome Werner-like syndrome due to combined growth factor deficiency A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus. Orphanet ICD-10:E88.1 ICD-11:LD27.6Z OMIM:233805 UMLS:C2931279 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1979 Lipodystrophy due to peptidic growth factors deficiency ORPHA:1979 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.6Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:233805 E (Exact mapping: the two concepts are equivalent) UMLS:C2931279 E (Exact mapping: the two concepts are equivalent) A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable. Orphanet ICD-10:E83.0 ICD-11:LD28.2 MeSH:C537860 OMIM:304150 UMLS:C0268353 X-linked recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=198 Occipital horn syndrome ORPHA:198 ICD-10:E83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537860 E (Exact mapping: the two concepts are equivalent) OMIM:304150 E (Exact mapping: the two concepts are equivalent) UMLS:C0268353 E (Exact mapping: the two concepts are equivalent) BSPDC Cerebrovascular ferrocalcinosis Idiopathic basal ganglia calcification PFBC Primary familial brain calcification Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. Orphanet ICD-10:G23.8 ICD-11:LD20.4 MedDRA:10059626 OMIM:213600 OMIM:615007 OMIM:615483 OMIM:616413 OMIM:618824 Autosomal dominant Not applicable Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1980 Bilateral striopallidodentate calcinosis ORPHA:1980 ICD-10:G23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD20.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10059626 E (Exact mapping: the two concepts are equivalent) OMIM:213600 E (Exact mapping: the two concepts are equivalent) OMIM:615007 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615483 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616413 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618824 BTNT (ORPHAcode is broader than the targeted code used to represent it) Deal-Barrat-Dillon syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Arthrogryposis-renal dysfunction-cholestasis syndrome Fanconi syndrome-ichthyosis-dysmorphism syndrome ORPHA:1981 NON RARE IN EUROPE: Chronic fatigue immune dysfunction syndrome NON RARE IN EUROPE: Myalgic encephalomyelitis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Chronic fatigue syndrome ORPHA:1983 Alport syndrome with leukocyte inclusions and macrothrombocytopenia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease MeSH:C537078 UMLS:C0403445 Fechtner syndrome ORPHA:1984 MeSH:C537078 E (Exact mapping: the two concepts are equivalent) UMLS:C0403445 E (Exact mapping: the two concepts are equivalent) Bifid femur-monodactylous ectrodactyly syndrome A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Orphanet ICD-10:Q74.8 ICD-11:LD26.0 MeSH:C537917 MedDRA:10079731 OMIM:228250 UMLS:C1856789 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1986 Gollop-Wolfgang complex ORPHA:1986 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537917 E (Exact mapping: the two concepts are equivalent) MedDRA:10079731 E (Exact mapping: the two concepts are equivalent) OMIM:228250 E (Exact mapping: the two concepts are equivalent) UMLS:C1856789 E (Exact mapping: the two concepts are equivalent) CFD CSF Isolated congenital femoral deficiency Isolated congenital short femur Isolated femoral intercalary meromelia Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. Orphanet ICD-10:Q72.4 ICD-11:LB9A.8 UMLS:C0345375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1987 Isolated femoral agenesis/hypoplasia ORPHA:1987 ICD-10:Q72.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0345375 E (Exact mapping: the two concepts are equivalent) FFS FHUFS Femoral hypoplasia-unusual facies syndrome Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537916 MedDRA:10083944 OMIM:134780 UMLS:C0265263 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 62.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1988 Femoral-facial syndrome ORPHA:1988 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537916 E (Exact mapping: the two concepts are equivalent) MedDRA:10083944 E (Exact mapping: the two concepts are equivalent) OMIM:134780 E (Exact mapping: the two concepts are equivalent) UMLS:C0265263 E (Exact mapping: the two concepts are equivalent) Brachmann-de Lange syndrome A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:D003635 MedDRA:10056354 OMIM:122470 OMIM:300590 OMIM:300882 OMIM:610759 OMIM:614701 OMIM:617126 UMLS:C0270972 Autosomal dominant Not applicable X-linked recessive Antenatal Neonatal Denmark AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.24 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199 Cornelia de Lange syndrome ORPHA:199 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D003635 E (Exact mapping: the two concepts are equivalent) MedDRA:10056354 E (Exact mapping: the two concepts are equivalent) OMIM:122470 E (Exact mapping: the two concepts are equivalent) OMIM:300590 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300882 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610759 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614701 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617126 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0270972 E (Exact mapping: the two concepts are equivalent) Tessier cleft number 1,2 UMLS:C0810364 Japan AND has_birth_prevalence_average_value : 190.5 AND has_birth_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 77.5 AND has_birth_prevalence_range : 6-9 / 10 000 Worldwide AND has_birth_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1991 Cleft lip with or without cleft palate Clinical group ORPHA:1991 UMLS:C0810364 E (Exact mapping: the two concepts are equivalent) ICD-10:D18.0 ICD-11:BB01.0 MeSH:C535861 MedDRA:10077389 OMIM:234810 UMLS:C0340548 Autosomal dominant Autosomal recessive Not applicable All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199241 Pulmonary capillary hemangiomatosis ORPHA:199241 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BB01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535861 E (Exact mapping: the two concepts are equivalent) MedDRA:10077389 E (Exact mapping: the two concepts are equivalent) OMIM:234810 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0340548 E (Exact mapping: the two concepts are equivalent) A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors. Orphanet ICD-10:E24.1 ICD-11:5A70.3 MeSH:D009347 MedDRA:10028913 UMLS:C0027577 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199244 Nelson syndrome ORPHA:199244 ICD-10:E24.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A70.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009347 E (Exact mapping: the two concepts are equivalent) MedDRA:10028913 E (Exact mapping: the two concepts are equivalent) UMLS:C0027577 E (Exact mapping: the two concepts are equivalent) Transcortin deficiency Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Orphanet ICD-10:E27.8 MeSH:C565152 OMIM:611489 UMLS:C1852529 Semi-dominant Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199247 Corticosteroid-binding globulin deficiency ORPHA:199247 ICD-10:E27.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565152 E (Exact mapping: the two concepts are equivalent) OMIM:611489 E (Exact mapping: the two concepts are equivalent) UMLS:C1852529 E (Exact mapping: the two concepts are equivalent) Plantar fibromatosis A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia. Orphanet ICD-10:M72.2 ICD-11:FB51.Y MeSH:D000071380 MedDRA:10035154 UMLS:C0158360 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199251 Ledderhose disease ORPHA:199251 ICD-10:M72.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000071380 E (Exact mapping: the two concepts are equivalent) MedDRA:10035154 E (Exact mapping: the two concepts are equivalent) UMLS:C0158360 E (Exact mapping: the two concepts are equivalent) UMLS:C0406571 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199257 Superficial fibromatosis Clinical group ORPHA:199257 UMLS:C0406571 E (Exact mapping: the two concepts are equivalent) Juvenile aponeurotic fibromatosis Keasby tumor A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen. Orphanet ICD-10:M72.8 ICD-11:EE61 MeSH:C000625499 UMLS:C0553647 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199260 Calcifying aponeurotic fibroma ORPHA:199260 ICD-10:M72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000625499 E (Exact mapping: the two concepts are equivalent) UMLS:C0553647 E (Exact mapping: the two concepts are equivalent) Inclusion body fibromatosis Recurring digital fibrous tumor of childhood Reye tumor A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies. Orphanet ICD-10:M72.8 ICD-11:EE6Y UMLS:C1318562 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199267 Infantile digital fibromatosis ORPHA:199267 ICD-10:M72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1318562 E (Exact mapping: the two concepts are equivalent) Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. Orphanet ICD-10:E88.2 ICD-11:2E80.0Z MeSH:D000071070 MedDRA:10081235 OMIM:151900 UMLS:C1275273 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199276 Familial multiple lipomatosis ORPHA:199276 ICD-10:E88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E80.0Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000071070 E (Exact mapping: the two concepts are equivalent) MedDRA:10081235 E (Exact mapping: the two concepts are equivalent) OMIM:151900 E (Exact mapping: the two concepts are equivalent) UMLS:C1275273 E (Exact mapping: the two concepts are equivalent) Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. Orphanet ICD-10:D17.9 MeSH:C565951 OMIM:206550 UMLS:C1859784 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199279 Familial angiolipomatosis ORPHA:199279 ICD-10:D17.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565951 E (Exact mapping: the two concepts are equivalent) OMIM:206550 E (Exact mapping: the two concepts are equivalent) UMLS:C1859784 E (Exact mapping: the two concepts are equivalent) Progressive isolated segmental anhidrosis Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur. Orphanet ICD-10:G90.8 ICD-11:EE01.0 MeSH:C535634 MedDRA:10076575 UMLS:C2029348 Not applicable All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199282 Harlequin syndrome ORPHA:199282 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535634 E (Exact mapping: the two concepts are equivalent) MedDRA:10076575 E (Exact mapping: the two concepts are equivalent) UMLS:C2029348 E (Exact mapping: the two concepts are equivalent) Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. Orphanet ICD-10:E50.8 ICD-11:5C63.Y OMIM:115300 OMIM:277350 UMLS:C4511672 Autosomal dominant Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199285 Hereditary hypercarotenemia and vitamin A deficiency ORPHA:199285 ICD-10:E50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:115300 E (Exact mapping: the two concepts are equivalent) OMIM:277350 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4511672 E (Exact mapping: the two concepts are equivalent) Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies. Orphanet ICD-10:Q40.2 ICD-11:LB13.Y UMLS:C0266150 Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199293 Congenital microgastria ORPHA:199293 ICD-10:Q40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB13.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266150 E (Exact mapping: the two concepts are equivalent) A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated. Orphanet ICD-10:E23.6 ICD-11:5A74.Y OMIM:201400 UMLS:C4055196 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199296 Congenital isolated ACTH deficiency ORPHA:199296 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:201400 E (Exact mapping: the two concepts are equivalent) UMLS:C4055196 E (Exact mapping: the two concepts are equivalent) Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. Orphanet ICD-10:E23.6 ICD-11:5A61.0 UMLS:C4751433 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199299 Late-onset isolated ACTH deficiency ORPHA:199299 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4751433 E (Exact mapping: the two concepts are equivalent) Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536135 OMIM:155145 UMLS:C1835087 Unknown Neonatal Worldwide AND has_cases/families_value : 67.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1993 Pai syndrome ORPHA:1993 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536135 E (Exact mapping: the two concepts are equivalent) OMIM:155145 E (Exact mapping: the two concepts are equivalent) UMLS:C1835087 E (Exact mapping: the two concepts are equivalent) Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base. Orphanet ICD-10:Q36.0 ICD-10:Q36.1 ICD-10:Q36.9 ICD-11:LA40 MedDRA:10009259 OMIM:119530 OMIM:129400 OMIM:225060 OMIM:600757 OMIM:602966 OMIM:608371 OMIM:608874 OMIM:610361 OMIM:612858 UMLS:C1837217 Multigenic/multifactorial Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199302 Isolated cleft lip ORPHA:199302 ICD-10:Q36.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q36.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10009259 E (Exact mapping: the two concepts are equivalent) OMIM:119530 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:129400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:225060 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600757 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:602966 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:608371 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:608874 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610361 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:612858 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C1837217 E (Exact mapping: the two concepts are equivalent) Alveolar cleft lip and palate Cleft lip and palate Cleft lip-alveolus-palate syndrome FLP Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. Orphanet ICD-10:Q37.0 ICD-10:Q37.1 ICD-10:Q37.2 ICD-10:Q37.3 ICD-10:Q37.4 ICD-10:Q37.5 ICD-10:Q37.8 ICD-10:Q37.9 ICD-11:LA40 ICD-11:LA42 MedDRA:10009260 OMIM:119530 OMIM:129400 OMIM:225060 OMIM:600625 OMIM:600757 OMIM:602966 OMIM:608371 OMIM:608864 OMIM:608874 OMIM:610361 OMIM:612858 OMIM:613705 OMIM:616788 OMIM:618149 UMLS:C0158646 Multigenic/multifactorial Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 98.0 AND has_birth_prevalence_range : 6-9 / 10 000 United States AND has_birth_prevalence_average_value : 56.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 80.0 AND has_birth_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199306 Cleft lip/palate ORPHA:199306 ICD-10:Q37.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q37.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q37.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q37.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q37.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q37.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q37.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q37.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA40 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA42 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10009260 E (Exact mapping: the two concepts are equivalent) OMIM:119530 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:129400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:225060 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600625 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600757 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:602966 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:608371 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:608864 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608874 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610361 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:612858 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:613705 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616788 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618149 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0158646 E (Exact mapping: the two concepts are equivalent) 46,XX/46,XY chimerism A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. Orphanet ICD-10:Q99.0 ICD-11:LD56 UMLS:C5679592 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199310 Tetragametic chimerism syndrome ORPHA:199310 ICD-10:Q99.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD56 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679592 E (Exact mapping: the two concepts are equivalent) Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly. Orphanet ICD-10:Q66.8 ICD-11:LB98.Y OMIM:119800 OMIM:613618 UMLS:C5680522 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199315 Familial clubfoot with or without associated lower limb anomalies ORPHA:199315 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB98.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:119800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613618 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680522 E (Exact mapping: the two concepts are equivalent) Del(15)(q13.3) Monosomy 15q13.3 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. Orphanet ICD-10:Q93.5 ICD-11:LD44.F MeSH:C567439 OMIM:612001 UMLS:C2677613 Autosomal dominant Not applicable Childhood Worldwide AND has_cases/families_value : 246.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199318 15q13.3 microdeletion syndrome ORPHA:199318 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.F - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567439 E (Exact mapping: the two concepts are equivalent) OMIM:612001 E (Exact mapping: the two concepts are equivalent) UMLS:C2677613 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi. Orphanet ICD-10:H44.0 ICD-10:H44.1 ICD-11:9C21 MeSH:D009877 MedDRA:10014801 UMLS:C0014236 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199323 Endophthalmitis ORPHA:199323 ICD-10:H44.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:H44.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9C21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009877 E (Exact mapping: the two concepts are equivalent) MedDRA:10014801 E (Exact mapping: the two concepts are equivalent) UMLS:C0014236 E (Exact mapping: the two concepts are equivalent) Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. Orphanet ICD-10:E83.4 ICD-11:5C64.41 UMLS:C4305155 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type ORPHA:199326 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305155 E (Exact mapping: the two concepts are equivalent) A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin. Orphanet ICD-10:G71.2 ICD-11:8C70.6 UMLS:C4511057 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199329 Congenital myopathy, Paradas type ORPHA:199329 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4511057 E (Exact mapping: the two concepts are equivalent) ECO syndrome Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:612651 UMLS:C4509819 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199332 Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612651 E (Exact mapping: the two concepts are equivalent) UMLS:C4509819 E (Exact mapping: the two concepts are equivalent) A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Orphanet ICD-10:E88.8 ICD-11:5C53.2Y OMIM:612714 UMLS:C5680520 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199337 Pancreatic insufficiency-anemia-hyperostosis syndrome ORPHA:199337 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612714 E (Exact mapping: the two concepts are equivalent) UMLS:C5680520 E (Exact mapping: the two concepts are equivalent) Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Orphanet ICD-10:G71.8 ICD-11:8C76 OMIM:612954 UMLS:C4509880 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199340 Muscular dystrophy, Selcen type ORPHA:199340 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612954 E (Exact mapping: the two concepts are equivalent) UMLS:C4509880 E (Exact mapping: the two concepts are equivalent) Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome SeSAME syndrome Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. Orphanet ICD-10:G40.4 ICD-11:LD2H.Y MeSH:C557674 OMIM:612780 UMLS:C2748572 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199343 EAST syndrome ORPHA:199343 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C557674 E (Exact mapping: the two concepts are equivalent) OMIM:612780 E (Exact mapping: the two concepts are equivalent) UMLS:C2748572 E (Exact mapping: the two concepts are equivalent) Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine. Orphanet ICD-10:E51.2 OMIM:607483 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199348 Thiamine-responsive encephalopathy ORPHA:199348 ICD-10:E51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607483 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Dystonia-parkinsonism, Paisan-Ruiz type PARK14 PLA2G6-related dystonia-parkinsonism A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Orphanet ICD-10:G24.1 ICD-11:8A00.1Y MeSH:C567844 OMIM:612953 UMLS:C2751842 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199351 Adult-onset dystonia-parkinsonism ORPHA:199351 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567844 E (Exact mapping: the two concepts are equivalent) OMIM:612953 E (Exact mapping: the two concepts are equivalent) UMLS:C2751842 E (Exact mapping: the two concepts are equivalent) CARASIL Maeda syndrome CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. Orphanet ICD-10:I67.8 ICD-11:8B22.C1 MeSH:C563990 MedDRA:10081315 OMIM:600142 UMLS:C1838577 Autosomal recessive Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:199354 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.C1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C563990 E (Exact mapping: the two concepts are equivalent) MedDRA:10081315 E (Exact mapping: the two concepts are equivalent) OMIM:600142 E (Exact mapping: the two concepts are equivalent) UMLS:C1838577 E (Exact mapping: the two concepts are equivalent) Ausems-Wittebol Post-Hennekam syndrome Cleft lip-cone rod dystrophy syndrome Cleft lip-progressive retinopathy syndrome An exceedingly rare association characterized by cleft lip and progressive retinopathy. Orphanet ICD-10:Q87.8 MeSH:C538272 UMLS:C2931789 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1995 Cleft lip-retinopathy syndrome ORPHA:1995 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538272 E (Exact mapping: the two concepts are equivalent) UMLS:C2931789 E (Exact mapping: the two concepts are equivalent) A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. Orphanet ICD-10:F84.1 ICD-11:6A02.Y MedDRA:10003747 UMLS:C0338986 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199627 Atypical autism ORPHA:199627 ICD-10:F84.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:6A02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10003747 E (Exact mapping: the two concepts are equivalent) UMLS:C0338986 E (Exact mapping: the two concepts are equivalent) Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. Orphanet ICD-10:Q04.3 UMLS:C4707794 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199630 Isolated cerebellar vermis hypoplasia ORPHA:199630 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707794 E (Exact mapping: the two concepts are equivalent) Non-syndromic brain malformation UMLS:C0266449 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199633 Non-syndromic cerebral malformation Category ORPHA:199633 UMLS:C0266449 E (Exact mapping: the two concepts are equivalent) UMLS:C5680521 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature Category ORPHA:199639 UMLS:C5680521 E (Exact mapping: the two concepts are equivalent) A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. Orphanet ICD-10:Q02 MedDRA:10027534 UMLS:C0025958 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199642 Isolated congenital microcephaly ORPHA:199642 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10027534 E (Exact mapping: the two concepts are equivalent) UMLS:C0025958 E (Exact mapping: the two concepts are equivalent) A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus. Orphanet ICD-10:Q01.0 ICD-10:Q01.1 ICD-10:Q01.2 ICD-10:Q01.8 ICD-10:Q01.9 ICD-11:LA01 MeSH:D004677 MedDRA:10014617 UMLS:C5680519 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=199647 Isolated encephalocele ORPHA:199647 ICD-10:Q01.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q01.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q01.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q01.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q01.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004677 E (Exact mapping: the two concepts are equivalent) MedDRA:10014617 E (Exact mapping: the two concepts are equivalent) UMLS:C5680519 E (Exact mapping: the two concepts are equivalent) BCD syndrome Blepharocheilodontic syndrome Clefting-ectropion-conical teeth syndrome Ectropion inferior-cleft lip and/or palate syndrome Elschnig syndrome Lagophthalmia-cleft lip and palate syndrome A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C536188 OMIM:119580 OMIM:617681 UMLS:C1861536 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 55.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1997 Blepharo-cheilo-odontic syndrome ORPHA:1997 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536188 E (Exact mapping: the two concepts are equivalent) OMIM:119580 E (Exact mapping: the two concepts are equivalent) OMIM:617681 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1861536 E (Exact mapping: the two concepts are equivalent) Xq28 GABA(A) receptor, alpha 3 ClinVar:GABRA3 Ensembl:ENSG00000011677 Genatlas:GABRA3 HGNC:4077 IUPHAR:406 OMIM:305660 Reactome:P34903 SwissProt:P34903 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 16q24.3 ClinVar:CDH15 Ensembl:ENSG00000129910 Genatlas:CDH15 HGNC:1754 OMIM:114019 Reactome:P55291 SwissProt:P55291 CDH15 cadherin 15 11q24.2 KIAA1867 KIRRE NEPH2 ClinVar:KIRREL3 Ensembl:ENSG00000149571 Genatlas:KIRREL3 HGNC:23204 OMIM:607761 Reactome:Q8IZU9 SwissProt:Q8IZU9 KIRREL3 kirre like nephrin family adhesion molecule 3 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C538324 OMIM:246450 UMLS:C0268601 Autosomal recessive All ages China AND has_birth_prevalence_range : <1 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=20 3-hydroxy-3-methylglutaric aciduria ORPHA:20 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538324 E (Exact mapping: the two concepts are equivalent) OMIM:246450 E (Exact mapping: the two concepts are equivalent) UMLS:C0268601 E (Exact mapping: the two concepts are equivalent) A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. Orphanet ICD-10:Q04.0 ICD-11:LA05.3 MeSH:D061085 UMLS:C5680463 Not applicable Antenatal Hungary AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 1.37 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=200 Isolated corpus callosum agenesis ORPHA:200 ICD-10:Q04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D061085 E (Exact mapping: the two concepts are equivalent) UMLS:C5680463 E (Exact mapping: the two concepts are equivalent) ICD-11:8A02.2 UMLS:C0393588 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=200037 Paroxysmal dystonia Clinical group ORPHA:200037 ICD-11:8A02.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0393588 E (Exact mapping: the two concepts are equivalent) McPherson-Clemens syndrome A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Orphanet ICD-10:Q87.8 MeSH:C538160 OMIM:601165 UMLS:C2931750 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome ORPHA:2001 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538160 E (Exact mapping: the two concepts are equivalent) OMIM:601165 E (Exact mapping: the two concepts are equivalent) UMLS:C2931750 E (Exact mapping: the two concepts are equivalent) Cleft lip/palate-hearing loss-sacral lipoma syndrome Lowry-Yong syndrome Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y UMLS:C4274888 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2003 Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274888 E (Exact mapping: the two concepts are equivalent) LC LTEC Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal diastema A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. Orphanet ICD-10:Q32.1 ICD-11:LA72 MeSH:C537875 OMIM:215800 UMLS:C1840311 Autosomal dominant Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2004 Laryngotracheoesophageal cleft ORPHA:2004 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA72 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537875 E (Exact mapping: the two concepts are equivalent) OMIM:215800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1840311 E (Exact mapping: the two concepts are equivalent) Complete factor I deficiency A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> and <i>Streptococcus pneumoniae</i>), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Orphanet ICD-10:D84.1 ICD-11:4A00.1Y OMIM:610984 UMLS:C5191010 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=200418 Immunodeficiency with factor I anomaly ORPHA:200418 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610984 E (Exact mapping: the two concepts are equivalent) UMLS:C5191010 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i> Neisseria meningitidis</i>, <i>Escherichia coli</i>, and <i>Haemophilus influenzae</i>), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components. Orphanet ICD-10:D84.1 ICD-11:4A00.1Y MeSH:C562875 OMIM:609814 UMLS:C0398777 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=200421 Immunodeficiency with factor H anomaly ORPHA:200421 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562875 E (Exact mapping: the two concepts are equivalent) OMIM:609814 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0398777 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Novak syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Laryngotracheoesophageal cleft type 4 OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome ORPHA:2005 Median cleft lower facial stage Median cleft of the lower lip and mandible Median mandibular cleft A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles. Orphanet ICD-10:Q36.1 ICD-11:LA51 UMLS:C4518460 Not applicable Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2006 Median cleft lip/mandible ORPHA:2006 ICD-10:Q36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518460 E (Exact mapping: the two concepts are equivalent) A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Orphanet ICD-10:Q75.8 OMIM:203000 UMLS:C4302677 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome ORPHA:2007 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:203000 E (Exact mapping: the two concepts are equivalent) UMLS:C4302677 E (Exact mapping: the two concepts are equivalent) 3p22.1 FLJ20551 Mitochondrial glycine transporter ClinVar:SLC25A38 Ensembl:ENSG00000144659 Genatlas:SLC25A38 HGNC:26054 IUPHAR:1089 OMIM:610819 SwissProt:Q96DW6 SLC25A38 solute carrier family 25 member 38 ACFS CCGE syndrome Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C563936 OMIM:600460 UMLS:C1838121 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2008 Acrocardiofacial syndrome ORPHA:2008 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563936 E (Exact mapping: the two concepts are equivalent) OMIM:600460 E (Exact mapping: the two concepts are equivalent) UMLS:C1838121 E (Exact mapping: the two concepts are equivalent) 11q13.2 ARA9 Ah receptor activated 9 FK506-binding protein 37 FKBP prolyl isomerase 16 FKBP16 FKBP37 X-associated protein-2 XAP2 aryl hydrocarbon receptor-associated protein 9 hepatitis B virus X-associated cellular protein 2 ClinVar:AIP Ensembl:ENSG00000110711 Genatlas:AIP HGNC:358 OMIM:605555 Reactome:O00170 SwissProt:O00170 AIP aryl hydrocarbon receptor interacting protein 12p13.1 KIP1 P27KIP1 ClinVar:CDKN1B Ensembl:ENSG00000111276 Genatlas:CDKN1B HGNC:1785 OMIM:600778 Reactome:P46527 SwissProt:P46527 CDKN1B cyclin dependent kinase inhibitor 1B Cowden disease Multiple hamartoma syndrome A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline <i>PTEN</i> mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. Orphanet ICD-10:Q85.8 ICD-11:LD2D.Y MeSH:D006223 MedDRA:10051906 OMIM:158350 OMIM:615107 OMIM:615108 OMIM:615109 OMIM:616858 UMLS:C0018553 Autosomal dominant All ages Netherlands AND has_point_prevalence_average_value : 0.45 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=201 Cowden syndrome ORPHA:201 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006223 E (Exact mapping: the two concepts are equivalent) MedDRA:10051906 E (Exact mapping: the two concepts are equivalent) OMIM:158350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615107 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615108 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615109 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616858 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0018553 E (Exact mapping: the two concepts are equivalent) A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Orphanet ICD-10:Q87.8 OMIM:216300 UMLS:C4304738 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2010 Cleft palate-stapes fixation-oligodontia syndrome ORPHA:2010 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:216300 E (Exact mapping: the two concepts are equivalent) UMLS:C4304738 E (Exact mapping: the two concepts are equivalent) 7q32.1 MODY9 Paired box protein Pax-4 ClinVar:PAX4 Ensembl:ENSG00000106331 Genatlas:PAX4 HGNC:8618 OMIM:167413 Reactome:O43316 SwissProt:O43316 PAX4 paired box 4 4q25 Pro-epidermal growth factor ClinVar:EGF Ensembl:ENSG00000138798 Genatlas:EGF HGNC:3229 OMIM:131530 Reactome:P01133 SwissProt:P01133 EGF epidermal growth factor 2p16.3 Hs.22998 KIAA0578 ClinVar:NRXN1 Ensembl:ENSG00000179915 Genatlas:NRXN1 HGNC:8008 OMIM:600565 Reactome:P58400 Reactome:Q9ULB1 SwissProt:P58400 SwissProt:Q9ULB1 NRXN1 neurexin 1 2q35 ClinVar:BARD1 Ensembl:ENSG00000138376 Genatlas:BARD1 HGNC:952 OMIM:601593 Reactome:Q99728 SwissProt:Q99728 BARD1 BRCA1 associated RING domain 1 6p21.1 GCAP-2 GCAP-II GCAP2 RP48 ClinVar:GUCA1B Ensembl:ENSG00000112599 Genatlas:GUCA1B HGNC:4679 OMIM:602275 Reactome:Q9UMX6 SwissProt:Q9UMX6 GUCA1B guanylate cyclase activator 1B 6q25.1 DEHAL1 dJ422F24.1 ClinVar:IYD Ensembl:ENSG00000009765 Genatlas:IYD HGNC:21071 IUPHAR:2488 OMIM:612025 Reactome:Q6PHW0 SwissProt:Q6PHW0 IYD iodotyrosine deiodinase 8q24.3 GPI-HBP1 LOC338328 endothelial cell LPL transporter ClinVar:GPIHBP1 Ensembl:ENSG00000277494 Genatlas:GPIHBP1 HGNC:24945 OMIM:612757 Reactome:Q8IV16 SwissProt:Q8IV16 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 19q13.2 PKBß ClinVar:AKT2 Ensembl:ENSG00000105221 Genatlas:AKT2 HGNC:392 IUPHAR:1480 OMIM:164731 Reactome:P31751 SwissProt:P31751 AKT2 AKT serine/threonine kinase 2 3p22.2 TLR adaptor MYD88 ClinVar:MYD88 Ensembl:ENSG00000172936 Genatlas:MYD88 HGNC:7562 OMIM:602170 Reactome:Q99836 SwissProt:Q99836 MYD88 MYD88 innate immune signal transduction adaptor 11q22.2 MALT2 MIHC RNF49 TNFR2-TRAF signaling complex protein apoptosis inhibitor 2 c-IAP2 cIAP2 hiap-1 inhibitor of apoptosis protein 1 mammalian IAP homolog C ClinVar:BIRC3 Ensembl:ENSG00000023445 Genatlas:BIRC3 HGNC:591 IUPHAR:2792 OMIM:601721 Reactome:Q13489 SwissProt:Q13489 BIRC3 baculoviral IAP repeat containing 3 14q32.33 ClinVar:IGH@ Genatlas:IGH@ HGNC:5477 OMIM:146910 OMIM:147010 OMIM:147070 SwissProt:Q6P089 IGH immunoglobulin heavy locus 3p13 12CC4 HSPC215 PAX5/FOXP1 fusion protein QRF1 fork head-related protein like B glutamine-rich factor 1 hFKH1B ClinVar:FOXP1 Ensembl:ENSG00000114861 Genatlas:FOXP1 HGNC:3823 OMIM:605515 Reactome:Q9H334 SwissProt:Q9H334 FOXP1 forkhead box P1 3q26.31 GHS-R GHS-R1a GHSR-1a ghrelin receptor ClinVar:GHSR Ensembl:ENSG00000121853 Genatlas:GHSR HGNC:4267 IUPHAR:246 OMIM:601898 Reactome:Q92847 SwissProt:Q92847 GHSR growth hormone secretagogue receptor 17p13.3 A2AP AAP ALPHA-2-PI API alpha-2-antiplasmin alpha-2-plasmin inhibitor alpha2AP ClinVar:SERPINF2 Ensembl:ENSG00000167711 Genatlas:SERPINF2 HGNC:9075 OMIM:613168 Reactome:P08697 SwissProt:P08697 SERPINF2 serpin family F member 2 11q23.3 CD3-GAMMA CD3GAMMA T-cell surface glycoprotein CD3 gamma chain ClinVar:CD3G Ensembl:ENSG00000160654 Genatlas:CD3G HGNC:1675 OMIM:186740 Reactome:P09693 SwissProt:P09693 CD3G CD3 gamma subunit of T-cell receptor complex 14q32.13 corticosteroid binding globulin transcortin ClinVar:SERPINA6 Ensembl:ENSG00000170099 Genatlas:SERPINA6 HGNC:1540 OMIM:122500 SwissProt:P08185 SERPINA6 serpin family A member 6 12q24.31 CRACM1 FLJ14466 calcium release-activated calcium modulator 1 ClinVar:ORAI1 Ensembl:ENSG00000276045 Genatlas:ORAI1 HGNC:25896 IUPHAR:2964 OMIM:610277 Reactome:Q96D31 SwissProt:Q96D31 ORAI1 ORAI calcium release-activated calcium modulator 1 Say-Barber-Hobbs syndrome Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Orphanet ICD-10:Q87.8 MeSH:C536621 OMIM:181180 UMLS:C1867023 Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2013 Cleft palate-large ears-small head syndrome ORPHA:2013 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536621 E (Exact mapping: the two concepts are equivalent) OMIM:181180 E (Exact mapping: the two concepts are equivalent) UMLS:C1867023 E (Exact mapping: the two concepts are equivalent) 11p15.4 D11S4896E GOK ClinVar:STIM1 Ensembl:ENSG00000167323 Genatlas:STIM1 HGNC:11386 OMIM:605921 Reactome:Q13586 SwissProt:Q13586 STIM1 stromal interaction molecule 1 A fissure type embryopathy that affects the soft and hard palate to varying degrees. Orphanet ICD-10:Q35 ICD-11:LA42 MeSH:D002972 MedDRA:10009269 OMIM:119540 UMLS:C0008925 Multigenic/multifactorial Not applicable Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 101.2 AND has_birth_prevalence_range : >1 / 1000 Australia AND has_point_prevalence_range : >1 / 1000 Austria AND has_birth_prevalence_average_value : 19.6 AND has_birth_prevalence_range : 1-5 / 10 000 Austria AND has_point_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 40.8 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_point_prevalence_range : 1-5 / 10 000 Bolivia AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Bolivia AND has_point_prevalence_range : 1-9 / 100 000 Chile AND has_birth_prevalence_average_value : 52.0 AND has_birth_prevalence_range : 1-5 / 10 000 Chile AND has_point_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 56.8 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 127.6 AND has_birth_prevalence_range : >1 / 1000 Denmark AND has_point_prevalence_range : >1 / 1000 Europe AND has_birth_prevalence_average_value : 53.6 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 25.5 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 47.5 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 67.5 AND has_birth_prevalence_range : 6-9 / 10 000 Hungary AND has_point_prevalence_range : 6-9 / 10 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 26.0 AND has_birth_prevalence_range : 1-5 / 10 000 Iran, Islamic Republic of AND has_point_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 54.2 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 39.6 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 74.7 AND has_birth_prevalence_range : 6-9 / 10 000 Malta AND has_point_prevalence_range : 6-9 / 10 000 Mexico AND has_birth_prevalence_average_value : 27.0 AND has_birth_prevalence_range : 1-5 / 10 000 Mexico AND has_point_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 65.4 AND has_birth_prevalence_range : 6-9 / 10 000 Norway AND has_point_prevalence_range : 6-9 / 10 000 Poland AND has_birth_prevalence_average_value : 36.5 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_point_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 14.2 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 30.7 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_birth_prevalence_average_value : 68.0 AND has_birth_prevalence_range : 6-9 / 10 000 Specific population AND has_point_prevalence_range : 6-9 / 10 000 Sudan AND has_birth_prevalence_average_value : 27.0 AND has_birth_prevalence_range : 1-5 / 10 000 Sudan AND has_point_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_point_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_point_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 57.2 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 60.2 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2014 Cleft palate Clinical group ORPHA:2014 ICD-10:Q35 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002972 E (Exact mapping: the two concepts are equivalent) MedDRA:10009269 E (Exact mapping: the two concepts are equivalent) OMIM:119540 E (Exact mapping: the two concepts are equivalent) UMLS:C0008925 E (Exact mapping: the two concepts are equivalent) 20q11.21 COX4-2 COX4B COXIV-2 cytochrome c oxidase subunit IV-like 2 dJ857M17.2 ClinVar:COX4I2 Ensembl:ENSG00000131055 Genatlas:COX4I2 HGNC:16232 OMIM:607976 SwissProt:Q96KJ9 COX4I2 cytochrome c oxidase subunit 4I2 10q26.11 BAG family molecular chaperone regulator 3 ClinVar:BAG3 Ensembl:ENSG00000151929 Genatlas:BAG3 HGNC:939 OMIM:603883 Reactome:O95817 SwissProt:O95817 BAG3 BAG cochaperone 3 6p12.1 KIAA0936 LCK2 MAK-related kinase MGC46090 MRK serine/threonine-protein kinase ICK ClinVar:ICK Ensembl:ENSG00000112144 Genatlas:ICK HGNC:21219 IUPHAR:2038 OMIM:612325 Reactome:Q9UPZ9 SwissProt:Q9UPZ9 CILK1 ciliogenesis associated kinase 1 Mathieu-De Broca-Bony syndrome A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.0 UMLS:C4304704 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2015 Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304704 E (Exact mapping: the two concepts are equivalent) 5q31.1 POTX PTX1 ClinVar:PITX1 Ensembl:ENSG00000069011 Genatlas:PITX1 HGNC:9004 OMIM:602149 Reactome:P78337 SwissProt:P78337 PITX1 paired like homeodomain 1 19q13.12 LYR motif containing 8 LYRM8 ClinVar:SDHAF1 Ensembl:ENSG00000205138 Genatlas:SDHAF1 HGNC:33867 OMIM:612848 Reactome:A6NFY7 SwissProt:A6NFY7 SDHAF1 succinate dehydrogenase complex assembly factor 1 12q21.32 DFNA69 FPH2 KL-1 Kitl SCF SF SLF familial progressive hyperpigmentation 2 mast cell growth factor steel factor stem cell factor ClinVar:KITLG Ensembl:ENSG00000049130 Genatlas:KITLG HGNC:6343 OMIM:184745 Reactome:P21583 SwissProt:P21583 KITLG KIT ligand 8p11.22 KIAA0021 MCMP MDC9 Mltng meltrin gamma ClinVar:ADAM9 Ensembl:ENSG00000168615 Genatlas:ADAM9 HGNC:216 IUPHAR:1657 OMIM:602713 Reactome:Q13443 SwissProt:Q13443 ADAM9 ADAM metallopeptidase domain 9 7q31.1 PC4 TIS7 ClinVar:IFRD1 Ensembl:ENSG00000006652 Genatlas:IFRD1 HGNC:5456 OMIM:603502 SwissProt:O00458 IFRD1 interferon related developmental regulator 1 16q21 DKFZP434K046 ClinVar:COQ9 Ensembl:ENSG00000088682 Genatlas:COQ9 HGNC:25302 OMIM:612837 Reactome:O75208 SwissProt:O75208 COQ9 coenzyme Q9 3p21.31 2P1 DKFZP564J0123 E3-3 MGC10527 ClinVar:NDUFAF3 Ensembl:ENSG00000178057 Genatlas:NDUFAF3 HGNC:29918 OMIM:612911 Reactome:Q9BU61 SwissProt:Q9BU61 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 6p25.2 DKFZp566F223 MGC8685 bA506K6.1 class IIb beta-tubulin ClinVar:TUBB2B Ensembl:ENSG00000137285 Genatlas:TUBB2B HGNC:30829 OMIM:612850 Reactome:Q9BVA1 SwissProt:Q9BVA1 TUBB2B tubulin beta 2B class IIb 2q35 KIAA0657 ClinVar:OBSL1 Ensembl:ENSG00000124006 Genatlas:OBSL1 HGNC:29092 OMIM:610991 Reactome:O75147 SwissProt:O75147 OBSL1 obscurin like cytoskeletal adaptor 1 7p15.3 KLHL6 RP42 SBBI26 retinitis pigmentosa 42 ClinVar:KLHL7 Ensembl:ENSG00000122550 Genatlas:KLHL7 HGNC:15646 OMIM:611119 SwissProt:Q8IXQ5 KLHL7 kelch like family member 7 13q31.3-q32.1 glypican proteoglycan 6 ClinVar:GPC6 Ensembl:ENSG00000183098 Genatlas:GPC6 HGNC:4454 OMIM:604404 Reactome:Q9Y625 SwissProt:Q9Y625 GPC6 glypican 6 12p13.31 C2F Grcc2f NEP1 ClinVar:EMG1 Ensembl:ENSG00000126749 Genatlas:EMG1 HGNC:16912 OMIM:611531 Reactome:Q92979 SwissProt:Q92979 EMG1 EMG1 N1-specific pseudouridine methyltransferase 6q27 FLJ10907 RNASE6PL bA514O12.3 ClinVar:RNASET2 Ensembl:ENSG00000026297 Genatlas:RNASET2 HGNC:21686 OMIM:612944 Reactome:O00584 SwissProt:O00584 RNASET2 ribonuclease T2 20q11.23 AGS5 Aicardi-Goutieres syndrome 5 HD domain containing 1 HDDC1 MOP-5 Mg11 SBBI88 monocyte protein 5 ClinVar:SAMHD1 Ensembl:ENSG00000101347 Genatlas:SAMHD1 HGNC:15925 OMIM:606754 Reactome:Q9Y3Z3 SwissProt:Q9Y3Z3 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 13q12.11 glia-activating factor ClinVar:FGF9 Ensembl:ENSG00000102678 Genatlas:FGF9 HGNC:3687 OMIM:600921 Reactome:P31371 SwissProt:P31371 FGF9 fibroblast growth factor 9 7q21.11 F-TCF HGFB HPTA SF fibroblast-derived tumor cytotoxic factor hepatopoietin A lung fibroblast-derived mitogen scatter factor ClinVar:HGF Ensembl:ENSG00000019991 Genatlas:HGF HGNC:4893 OMIM:142409 Reactome:P14210 SwissProt:P14210 HGF hepatocyte growth factor 17q25.3 P5C ClinVar:PYCR1 Ensembl:ENSG00000183010 Genatlas:PYCR1 HGNC:9721 OMIM:179035 Reactome:P32322 SwissProt:P32322 PYCR1 pyrroline-5-carboxylate reductase 1 CPLS syndrome Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. Orphanet ICD-10:Q87.8 MeSH:C563047 OMIM:119550 UMLS:C0795898 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2016 Cleft palate-lateral synechia syndrome ORPHA:2016 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563047 E (Exact mapping: the two concepts are equivalent) OMIM:119550 E (Exact mapping: the two concepts are equivalent) UMLS:C0795898 E (Exact mapping: the two concepts are equivalent) Cleft sternum Sternum bifidum A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated. Orphanet ICD-10:Q76.7 ICD-11:LB73.13 MeSH:C537489 UMLS:C2931507 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2017 Sternal cleft ORPHA:2017 ICD-10:Q76.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB73.13 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537489 E (Exact mapping: the two concepts are equivalent) UMLS:C2931507 E (Exact mapping: the two concepts are equivalent) 12q13.12 TREB36 ClinVar:ATF1 Ensembl:ENSG00000123268 Genatlas:ATF1 HGNC:783 OMIM:123803 Reactome:P18846 SwissProt:P18846 ATF1 activating transcription factor 1 FFU complex Femur-fibula-ulna dysostosis Femur-fibula-ulna syndrome A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal. Orphanet ICD-10:Q74.8 ICD-11:LD26.0 MeSH:C537918 MedDRA:10068448 OMIM:228200 UMLS:C1856790 Not applicable Neonatal Europe AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2019 Femur-fibula-ulna complex ORPHA:2019 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537918 E (Exact mapping: the two concepts are equivalent) MedDRA:10068448 E (Exact mapping: the two concepts are equivalent) OMIM:228200 E (Exact mapping: the two concepts are equivalent) UMLS:C1856790 E (Exact mapping: the two concepts are equivalent) Alopecia-deafness-hypogonadism syndrome Alopecia-hearing loss-hypogonadism syndrome Alopecia-sensorineural deafness-hypogonadism syndrome Alopecia-sensorineural hearing loss-hypogonadism syndrome Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder. Orphanet ICD-10:E23.0 UMLS:C0432348 Autosomal recessive No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=202 Crandall syndrome ORPHA:202 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0432348 E (Exact mapping: the two concepts are equivalent) CFTDM A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Orphanet ICD-10:G71.2 ICD-11:8C72.1 OMIM:255310 OMIM:300580 OMIM:617760 UMLS:C0546264 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2020 Congenital fiber-type disproportion myopathy ORPHA:2020 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:255310 E (Exact mapping: the two concepts are equivalent) OMIM:300580 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617760 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0546264 E (Exact mapping: the two concepts are equivalent) A rare, rhizo-mesomelic dysplasia characterized by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period persents with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C562524 OMIM:228520 OMIM:614524 UMLS:C0265282 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2021 Fibrochondrogenesis ORPHA:2021 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562524 E (Exact mapping: the two concepts are equivalent) OMIM:228520 E (Exact mapping: the two concepts are equivalent) OMIM:614524 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265282 E (Exact mapping: the two concepts are equivalent) Endomyocardial fibroelastosis A rare cardiac disease characterized by thickening of the endocardium due to deposition of collagen and elastic fibers and leading to dilated cardiomyopathy-like phenotypes more often than to restrictive forms. It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions. Orphanet ICD-10:I42.4 ICD-11:BC43.3 MeSH:D004695 MedDRA:10014663 OMIM:226000 UMLS:C0014117 Unknown Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2022 Endocardial fibroelastosis ORPHA:2022 ICD-10:I42.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:BC43.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004695 E (Exact mapping: the two concepts are equivalent) MedDRA:10014663 E (Exact mapping: the two concepts are equivalent) OMIM:226000 E (Exact mapping: the two concepts are equivalent) UMLS:C0014117 E (Exact mapping: the two concepts are equivalent) UPS An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis. Orphanet ICD-10:C49.9 MeSH:D051677 MedDRA:10025552 UMLS:C0334463 Not applicable Adolescent Adult Childhood Elderly Europe AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2023 Undifferentiated pleomorphic sarcoma ORPHA:2023 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D051677 E (Exact mapping: the two concepts are equivalent) MedDRA:10025552 E (Exact mapping: the two concepts are equivalent) UMLS:C0334463 E (Exact mapping: the two concepts are equivalent) Autosomal dominant gingival fibromatosis Autosomal dominant gingival hyperplasia Hereditary gingival hyperplasia Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. Orphanet ICD-10:K06.1 ICD-11:DA0B.Y MeSH:C562884 MedDRA:10088210 OMIM:135300 OMIM:605544 OMIM:609955 OMIM:611010 OMIM:617626 UMLS:C0399440 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2024 Hereditary gingival fibromatosis ORPHA:2024 ICD-10:K06.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA0B.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562884 E (Exact mapping: the two concepts are equivalent) MedDRA:10088210 E (Exact mapping: the two concepts are equivalent) OMIM:135300 E (Exact mapping: the two concepts are equivalent) OMIM:605544 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609955 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611010 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617626 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0399440 E (Exact mapping: the two concepts are equivalent) A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Orphanet ICD-10:Q87.0 OMIM:228560 UMLS:C4304501 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2025 Gingival fibromatosis-facial dysmorphism syndrome ORPHA:2025 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:228560 E (Exact mapping: the two concepts are equivalent) UMLS:C4304501 E (Exact mapping: the two concepts are equivalent) CGHT Congenital generalized hypertrichosis terminalis Hirsutism-congenital gingival hyperplasia syndrome Hypertrichosis with or without gingival hyperplasia A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. Orphanet ICD-10:L68.8 ICD-11:LD27.0Y OMIM:135400 UMLS:C4274889 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2026 Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026 ICD-10:L68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:135400 E (Exact mapping: the two concepts are equivalent) UMLS:C4274889 E (Exact mapping: the two concepts are equivalent) Gingival fibromatosis-progressive hearing loss syndrome Jones syndrome A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. Orphanet ICD-10:H90.3 ICD-11:LD2H.Y MeSH:C535886 OMIM:135550 UMLS:C1851112 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2027 Gingival fibromatosis-progressive deafness syndrome ORPHA:2027 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535886 E (Exact mapping: the two concepts are equivalent) OMIM:135550 E (Exact mapping: the two concepts are equivalent) UMLS:C1851112 E (Exact mapping: the two concepts are equivalent) Murray-Puretic-Drescher syndrome Puretic syndrome A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. Orphanet ICD-10:M72.8 ICD-11:EE6Y MeSH:D057770 OMIM:228600 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2028 Juvenile hyaline fibromatosis Clinical subtype ORPHA:2028 ICD-10:M72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D057770 E (Exact mapping: the two concepts are equivalent) OMIM:228600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Jaffe-Campanacci syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurofibromatosis type 1 Multiple non-ossifying fibromatosis ORPHA:2029 UMLS:C5680789 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=202940 Anomaly of puberty or/and menstrual cycle of genetic origin Category ORPHA:202940 UMLS:C5680789 E (Exact mapping: the two concepts are equivalent) Syndromic microphthalmia UMLS:C5679782 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=202948 Syndromic microphthalmia-anophthalmia-coloboma Category ORPHA:202948 UMLS:C5679782 E (Exact mapping: the two concepts are equivalent) ICD-10:C49.9 MeSH:D005354 MedDRA:10016632 UMLS:C0016057 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2030 Fibrosarcoma ORPHA:2030 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005354 E (Exact mapping: the two concepts are equivalent) MedDRA:10016632 E (Exact mapping: the two concepts are equivalent) UMLS:C0016057 E (Exact mapping: the two concepts are equivalent) Thompson-Baraitser syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.8 MeSH:C536515 OMIM:213010 UMLS:C2931226 Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536515 E (Exact mapping: the two concepts are equivalent) OMIM:213010 E (Exact mapping: the two concepts are equivalent) UMLS:C2931226 E (Exact mapping: the two concepts are equivalent) IPF An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause. Orphanet ICD-10:J84.1 ICD-11:CB03.4 MeSH:D054990 MedDRA:10021240 OMIM:178500 OMIM:614742 OMIM:616371 OMIM:616373 OMIM:619611 UMLS:C1800706 Multigenic/multifactorial Adult Canada AND has_annual_incidence_average_value : 15.35 AND has_annual_incidence_range : 1-5 / 10 000 Canada AND has_point_prevalence_average_value : 29.8 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 8.6 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 21.2 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_point_prevalence_average_value : 5.9 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_annual_incidence_average_value : 13.0 AND has_annual_incidence_range : 1-5 / 10 000 Korea, Republic of AND has_point_prevalence_average_value : 37.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 11.6 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 5.55 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 16.125 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2032 Idiopathic pulmonary fibrosis ORPHA:2032 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:CB03.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054990 E (Exact mapping: the two concepts are equivalent) MedDRA:10021240 E (Exact mapping: the two concepts are equivalent) OMIM:178500 E (Exact mapping: the two concepts are equivalent) OMIM:614742 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616371 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616373 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619611 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1800706 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare neurologic disease OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome ORPHA:2033 A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by <i>Wuchereria bancrofti</i> and filarioidea of the genus <i>Brugia</i>; <i>Onchocerca volvulus</i>; <i>Loa loa</i>; <i>Mansonella</i>; <i>Dirofilaria</i>; and <i>Dracunculus medinensis</i>, respectively. Tropical eosinophilia is considered a frequent manifestation. Orphanet ICD-10:B74 ICD-11:1F66 MeSH:D005368 MedDRA:10016674 UMLS:C0016085 Not applicable All ages Europe AND has_point_prevalence_range : Unknown Specific population AND has_point_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2034 Filariasis Category ORPHA:2034 ICD-10:B74 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F66 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005368 E (Exact mapping: the two concepts are equivalent) MedDRA:10016674 E (Exact mapping: the two concepts are equivalent) UMLS:C0016085 E (Exact mapping: the two concepts are equivalent) Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms <i>Wuchereria bancrofti</i>, <i>Brugia malayi</i> and <i>Brugia timori</i>, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported. Orphanet ICD-10:B74.0 ICD-10:B74.1 ICD-10:B74.2 ICD-11:1F66.3 ICD-11:1F66.30 ICD-11:1F66.31 ICD-11:1F66.32 MedDRA:10016675 UMLS:C0013884 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Specific population AND has_point_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2035 Lymphatic filariasis ORPHA:2035 ICD-10:B74.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B74.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B74.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F66.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F66.30 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F66.31 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F66.32 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10016675 E (Exact mapping: the two concepts are equivalent) UMLS:C0013884 E (Exact mapping: the two concepts are equivalent) Finlay-Marks syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C536623 OMIM:181270 UMLS:C1867020 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2036 Scalp-ear-nipple syndrome ORPHA:2036 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536623 E (Exact mapping: the two concepts are equivalent) OMIM:181270 E (Exact mapping: the two concepts are equivalent) UMLS:C1867020 E (Exact mapping: the two concepts are equivalent) Congenital aortopulmonary artery fistula Congenital aortopulmonary septal defect A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life. Orphanet ICD-10:Q21.4 ICD-11:LA8B.0 MeSH:C537782 UMLS:C5679821 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2037 Congenital aortopulmonary window ORPHA:2037 ICD-10:Q21.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8B.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537782 E (Exact mapping: the two concepts are equivalent) UMLS:C5679821 E (Exact mapping: the two concepts are equivalent) PAVM An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt. Orphanet ICD-10:Q25.7 ICD-11:LA90.5 MedDRA:10037332 OMIM:265140 UMLS:C0155675 Multigenic/multifactorial Unknown Infancy Europe AND has_point_prevalence_range : Unknown Worldwide AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2038 Pulmonary arteriovenous malformation ORPHA:2038 ICD-10:Q25.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA90.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10037332 E (Exact mapping: the two concepts are equivalent) OMIM:265140 E (Exact mapping: the two concepts are equivalent) UMLS:C0155675 E (Exact mapping: the two concepts are equivalent) Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings. Orphanet ICD-10:Q27.3 ICD-11:LA90.3Z UMLS:C5191839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2039 Congenital systemic arteriovenous fistula ORPHA:2039 ICD-10:Q27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA90.3Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5191839 E (Exact mapping: the two concepts are equivalent) Sporadic CJD A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis. Orphanet ICD-10:A81.0 ICD-11:8E00 MeSH:C565143 MedDRA:10011384 OMIM:123400 UMLS:C1852467 Not applicable Adult Elderly Australia AND has_annual_incidence_average_value : 0.125 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 0.0937 AND has_point_prevalence_range : <1 / 1 000 000 Austria AND has_annual_incidence_average_value : 0.152 AND has_annual_incidence_range : 1-9 / 1 000 000 Austria AND has_point_prevalence_average_value : 0.114 AND has_point_prevalence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.117 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_point_prevalence_average_value : 0.087 AND has_point_prevalence_range : <1 / 1 000 000 Canada AND has_annual_incidence_average_value : 0.105 AND has_annual_incidence_range : 1-9 / 1 000 000 Canada AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000 Cyprus AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000 Denmark AND has_annual_incidence_average_value : 0.147 AND has_annual_incidence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_point_prevalence_average_value : 0.024 AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.141 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.105 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.099 AND has_point_prevalence_range : <1 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.062 AND has_annual_incidence_range : <1 / 1 000 000 Greece AND has_point_prevalence_average_value : 0.0465 AND has_point_prevalence_range : <1 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.0107 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.142 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.1065 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.123 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.092 AND has_point_prevalence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.102 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.0765 AND has_point_prevalence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.0086 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_point_prevalence_average_value : 0.0645 AND has_point_prevalence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.146 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_point_prevalence_average_value : 0.1095 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.096 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.142 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.1065 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_point_prevalence_average_value : 0.129 AND has_point_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 0.041 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.124 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.093 AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.122 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.0915 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.088 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=204 Sporadic Creutzfeldt-Jakob disease ORPHA:204 ICD-10:A81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8E00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C565143 E (Exact mapping: the two concepts are equivalent) MedDRA:10011384 E (Exact mapping: the two concepts are equivalent) OMIM:123400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1852467 E (Exact mapping: the two concepts are equivalent) Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. Orphanet ICD-10:Q32.4 UMLS:C5231000 Not applicable Childhood Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2040 Congenital respiratory-biliary fistula ORPHA:2040 ICD-10:Q32.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5231000 E (Exact mapping: the two concepts are equivalent) Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. Orphanet ICD-10:Q24.5 ICD-11:BA83 ICD-11:LA8C.2 MedDRA:10069441 UMLS:C0265898 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2041 Coronary arterial fistula ORPHA:2041 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA83 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8C.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10069441 E (Exact mapping: the two concepts are equivalent) UMLS:C0265898 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Esophageal atresia OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome ORPHA:2042 A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537062 MedDRA:10079943 OMIM:136140 UMLS:C0729582 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2044 Floating-Harbor syndrome ORPHA:2044 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537062 E (Exact mapping: the two concepts are equivalent) MedDRA:10079943 E (Exact mapping: the two concepts are equivalent) OMIM:136140 E (Exact mapping: the two concepts are equivalent) UMLS:C0729582 E (Exact mapping: the two concepts are equivalent) 22q13.1 EN-7 ClinVar:RAC2 Ensembl:ENSG00000128340 Genatlas:RAC2 HGNC:9802 OMIM:602049 Reactome:P15153 SwissProt:P15153 RAC2 Rac family small GTPase 2 22q12.3 SH3PXD4 neutrophil NADPH oxidase factor 4 p40phox ClinVar:NCF4 Ensembl:ENSG00000100365 Genatlas:NCF4 HGNC:7662 OMIM:601488 Reactome:Q15080 SwissProt:Q15080 NCF4 neutrophil cytosolic factor 4 16q23.2 BCMO FLJ10730 ClinVar:BCMO1 Ensembl:ENSG00000135697 Genatlas:BCMO1 HGNC:13815 OMIM:605748 Reactome:Q9HAY6 SwissProt:Q9HAY6 BCO1 beta-carotene oxygenase 1 Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Orphanet ICD-10:L60.8 MeSH:C537065 UMLS:C2931411 Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2045 FLOTCH syndrome ORPHA:2045 ICD-10:L60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537065 E (Exact mapping: the two concepts are equivalent) UMLS:C2931411 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein. Orphanet ICD-10:Q87.8 MeSH:C537066 OMIM:136300 UMLS:C0343108 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2047 Flynn-Aird syndrome ORPHA:2047 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537066 E (Exact mapping: the two concepts are equivalent) OMIM:136300 E (Exact mapping: the two concepts are equivalent) UMLS:C0343108 E (Exact mapping: the two concepts are equivalent) Bilateral anterior opercular syndrome Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation Facio-pharyngo-glosso-masticatory diplegia A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. Orphanet ICD-10:G12.2 MeSH:C537069 MedDRA:10083275 UMLS:C2931412 Not applicable All ages Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2048 Foix-Chavany-Marie syndrome ORPHA:2048 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537069 E (Exact mapping: the two concepts are equivalent) MedDRA:10083275 E (Exact mapping: the two concepts are equivalent) UMLS:C2931412 E (Exact mapping: the two concepts are equivalent) Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin-UGT deficiency A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy. Orphanet ICD-10:E80.5 ICD-11:5C58.00 MeSH:D003414 MedDRA:10011386 OMIM:218800 OMIM:606785 UMLS:C5551003 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=205 Crigler-Najjar syndrome ORPHA:205 ICD-10:E80.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C58.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003414 E (Exact mapping: the two concepts are equivalent) MedDRA:10011386 E (Exact mapping: the two concepts are equivalent) OMIM:218800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606785 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5551003 E (Exact mapping: the two concepts are equivalent) Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). Orphanet ICD-10:Q78.0 ICD-11:LD24.KY MeSH:C535963 OMIM:112240 OMIM:616294 UMLS:C1862178 Autosomal dominant Autosomal recessive Not applicable Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2050 Cole-Carpenter syndrome ORPHA:2050 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535963 E (Exact mapping: the two concepts are equivalent) OMIM:112240 E (Exact mapping: the two concepts are equivalent) OMIM:616294 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1862178 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Fraser syndrome OMIM:229230 UMLS:C1856708 Fraser-like syndrome ORPHA:2051 OMIM:229230 E (Exact mapping: the two concepts are equivalent) UMLS:C1856708 E (Exact mapping: the two concepts are equivalent) Cryptophthalmos-syndactyly syndrome A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies. Orphanet ICD-10:Q87.0 ICD-11:LD2H.0 MeSH:D058497 MedDRA:10080219 OMIM:219000 OMIM:617666 OMIM:617667 UMLS:C0265233 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2052 Fraser syndrome ORPHA:2052 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D058497 E (Exact mapping: the two concepts are equivalent) MedDRA:10080219 E (Exact mapping: the two concepts are equivalent) OMIM:219000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617666 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617667 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265233 E (Exact mapping: the two concepts are equivalent) Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Distal arthrogryposis type 2A Freeman-Burian syndrome Whistling face syndrome A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Orphanet ICD-10:Q87.0 ICD-11:LD26.4Y MeSH:C535483 MedDRA:10073655 OMIM:193700 OMIM:277720 OMIM:618436 UMLS:C0265224 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2053 Freeman-Sheldon syndrome ORPHA:2053 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535483 E (Exact mapping: the two concepts are equivalent) MedDRA:10073655 E (Exact mapping: the two concepts are equivalent) OMIM:193700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:277720 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618436 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265224 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Osteochondrosis OBSOLETE: Osteochondritis of tarsal/metatarsal bone ORPHA:2054 Frias syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 14q22q23 microdeletion syndrome UMLS:C1864825 Growth deficiency-brachydactyly-dysmorphism syndrome ORPHA:2055 UMLS:C1864825 E (Exact mapping: the two concepts are equivalent) 1p36.22 ClinVar:NPPA Ensembl:ENSG00000175206 Genatlas:NPPA HGNC:7939 OMIM:108780 Reactome:P01160 SwissProt:P01160 NPPA natriuretic peptide A 6q16.3 EAA4 GLUK6 GluK2 GluR-6 MRT6 excitatory amino acid receptor 4 excitatory amino acid receptor 4‘ ClinVar:GRIK2 Ensembl:ENSG00000164418 Genatlas:GRIK2 HGNC:4580 IUPHAR:451 OMIM:138244 Reactome:Q13002 SwissProt:Q13002 GRIK2 glutamate ionotropic receptor kainate type subunit 2 5q35.3 FLJ20479 ClinVar:NHP2 Ensembl:ENSG00000145912 Genatlas:NHP2 HGNC:14377 OMIM:606470 Reactome:Q9NX24 SwissProt:Q9NX24 NHP2 NHP2 ribonucleoprotein Fructokinase deficiency Ketohexokinase deficiency Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. Orphanet ICD-10:E74.1 ICD-11:5C51.5Y MeSH:C538068 MedDRA:10015487 OMIM:229800 UMLS:C0268160 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2056 Essential fructosuria ORPHA:2056 ICD-10:E74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538068 E (Exact mapping: the two concepts are equivalent) MedDRA:10015487 E (Exact mapping: the two concepts are equivalent) OMIM:229800 E (Exact mapping: the two concepts are equivalent) UMLS:C0268160 E (Exact mapping: the two concepts are equivalent) Frydman-Cohen-Karmon syndrome A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Orphanet ICD-10:Q87.8 OMIM:210745 UMLS:C4303550 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:210745 E (Exact mapping: the two concepts are equivalent) UMLS:C4303550 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994. Orphanet ICD-10:Q87.0 UMLS:C5680810 Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2058 Fryns-Smeets-Thiry syndrome ORPHA:2058 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680810 E (Exact mapping: the two concepts are equivalent) Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C538070 MedDRA:10075223 OMIM:229850 UMLS:C0220730 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2059 Fryns syndrome ORPHA:2059 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538070 E (Exact mapping: the two concepts are equivalent) MedDRA:10075223 E (Exact mapping: the two concepts are equivalent) OMIM:229850 E (Exact mapping: the two concepts are equivalent) UMLS:C0220730 E (Exact mapping: the two concepts are equivalent) 20p11.23 CDA-II CDAII HEMPAS ClinVar:SEC23B Ensembl:ENSG00000101310 Genatlas:SEC23B HGNC:10702 OMIM:610512 Reactome:Q15437 SwissProt:Q15437 SEC23B SEC23 homolog B, COPII coat complex component mitochondria trnP ClinVar:MT-TP Ensembl:ENSG00000210196 Genatlas:MT-TP HGNC:7494 OMIM:590075 MT-TP mitochondrially encoded tRNA-Pro (CCN) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Crohn disease ORPHA:206 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Craniosynostosis-anal anomalies-porokeratosis syndrome Fukuda-Miyanomae-Nakata syndrome ORPHA:2060 Copenhagen syndrome PAVF Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Orphanet ICD-10:Q87.8 ICD-11:LD24.H UMLS:C4304839 Not applicable Childhood Worldwide AND has_cases/families_value : 67.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2062 Progressive non-infectious anterior vertebral fusion ORPHA:2062 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.H - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4304839 E (Exact mapping: the two concepts are equivalent) SGFLD syndrome A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Orphanet ICD-10:Q87.8 MeSH:C537318 OMIM:183300 UMLS:C1866745 Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2063 Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537318 E (Exact mapping: the two concepts are equivalent) OMIM:183300 E (Exact mapping: the two concepts are equivalent) UMLS:C1866745 E (Exact mapping: the two concepts are equivalent) Faulk-Epstein-Jones syndrome A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Orphanet ICD-10:Q87.5 MeSH:C536344 OMIM:192800 UMLS:C4510303 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome ORPHA:2064 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536344 E (Exact mapping: the two concepts are equivalent) OMIM:192800 E (Exact mapping: the two concepts are equivalent) UMLS:C4510303 E (Exact mapping: the two concepts are equivalent) HPRT deficiency HPRT1 deficiency Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. Orphanet MedDRA:10075774 X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency Clinical group ORPHA:206428 MedDRA:10075774 E (Exact mapping: the two concepts are equivalent) Krabbe disease, classic form Krabbe disease, early-onset ICD-10:E75.2 ICD-11:8A44.4 OMIM:245200 UMLS:C0751273 Infancy United States AND has_annual_incidence_average_value : 0.254 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206436 Infantile Krabbe disease Clinical subtype ORPHA:206436 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751273 E (Exact mapping: the two concepts are equivalent) Krabbe disease, late-onset ICD-10:E75.2 ICD-11:8A44.4 OMIM:245200 UMLS:C0268252 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206443 Late-infantile/juvenile Krabbe disease Clinical subtype ORPHA:206443 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0268252 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:8A44.4 OMIM:245200 UMLS:C5680793 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206448 Adult Krabbe disease Clinical subtype ORPHA:206448 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680793 E (Exact mapping: the two concepts are equivalent) Cystadenoma of ovary in childhood A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. Orphanet ICD-10:D27 UMLS:C5679785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206470 Cystadenoma of childhood ORPHA:206470 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679785 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Borderline ovarian epithelial tumor OBSOLETE: Ovarian tumor of low malignant potential This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Malignant epithelial tumor of ovary OBSOLETE: Borderline epithelial tumor of ovary ORPHA:206473 Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma. Orphanet ICD-10:D39.1 MeSH:D018238 OMIM:424500 UMLS:C0206661 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206484 Gonadoblastoma ORPHA:206484 ICD-10:D39.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D018238 E (Exact mapping: the two concepts are equivalent) OMIM:424500 E (Exact mapping: the two concepts are equivalent) UMLS:C0206661 E (Exact mapping: the two concepts are equivalent) Vaginal germ cell cancer Vaginal germ cell malignant tumor Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported. Orphanet ICD-10:C52 ICD-11:2C71.Y UMLS:C4749402 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206489 Malignant germ cell tumor of the vagina ORPHA:206489 ICD-10:C52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749402 E (Exact mapping: the two concepts are equivalent) Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration. Orphanet ICD-10:C52 ICD-11:2C71.Y UMLS:C4707823 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206492 Vulvovaginal rhabdomyosarcoma ORPHA:206492 ICD-10:C52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707823 E (Exact mapping: the two concepts are equivalent) Galloway syndrome Microcephaly-hiatus hernia-nephrotic syndrome Nephrosis-neuronal dysmigration syndrome A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. Orphanet ICD-10:Q04.3 ICD-11:GB41 MeSH:C537548 OMIM:251300 OMIM:301006 OMIM:617729 OMIM:617730 OMIM:617731 OMIM:618347 OMIM:618348 OMIM:618349 OMIM:619603 OMIM:619609 UMLS:C0795949 Autosomal recessive X-linked recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 159.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2065 Galloway-Mowat syndrome ORPHA:2065 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537548 E (Exact mapping: the two concepts are equivalent) OMIM:251300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301006 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617729 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617730 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617731 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618347 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618348 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618349 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619603 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619609 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0795949 E (Exact mapping: the two concepts are equivalent) Non-dysgerminomatous germ cell cancer of ovary Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor. Orphanet ICD-10:C56 ICD-11:2C73.Y UMLS:C5679783 Unknown Adolescent Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206538 Malignant non-dysgerminomatous germ cell tumor of ovary ORPHA:206538 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679783 E (Exact mapping: the two concepts are equivalent) A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Orphanet ICD-10:G71.0 ICD-11:8C70.0 ICD-11:8C70.1 UMLS:C4707359 X-linked recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA:206546 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C70.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4707359 E (Exact mapping: the two concepts are equivalent) Anoctamin-5-related LGMD R12 Autosomal recessive limb-girdle muscular dystrophy type 2L LGMD type 2L LGMD2L Limb-girdle muscular dystrophy type 2L A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. Orphanet ICD-10:G71.0 MeSH:C566968 OMIM:611307 UMLS:C1969785 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 ORPHA:206549 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566968 E (Exact mapping: the two concepts are equivalent) OMIM:611307 E (Exact mapping: the two concepts are equivalent) UMLS:C1969785 E (Exact mapping: the two concepts are equivalent) Autosomal recessive LGMD type 2M Autosomal recessive limb-girdle muscular dystrophy type 2M Fukutin-related LGMD R13 LGMD type 2M LGMD2M A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. Orphanet ICD-10:G71.0 MeSH:C566912 OMIM:611588 UMLS:C1969040 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206554 Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566912 E (Exact mapping: the two concepts are equivalent) OMIM:611588 E (Exact mapping: the two concepts are equivalent) UMLS:C1969040 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2N LGMD type 2N LGMD2N Limb-girdle muscular dystrophy type 2N POMT2-related LGMD R14 A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability). Orphanet ICD-10:G71.0 OMIM:613158 UMLS:C3150418 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206559 POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613158 E (Exact mapping: the two concepts are equivalent) UMLS:C3150418 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2O LGMD type 2O LGMD2O Limb-girdle muscular dystrophy type 2O POMGNT1-related LGMD R15 A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. Orphanet ICD-10:G71.0 OMIM:613157 UMLS:C3150417 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206564 POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613157 E (Exact mapping: the two concepts are equivalent) UMLS:C3150417 E (Exact mapping: the two concepts are equivalent) AINM Autoimmune necrotizing myositis IMNM NAM Necrotizing autoimmune myositis A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers. Orphanet ICD-10:G72.4 UMLS:C3267047 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206569 Immune-mediated necrotizing myopathy ORPHA:206569 ICD-10:G72.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3267047 E (Exact mapping: the two concepts are equivalent) Adult-onset overlap myositis Non-specific myositis A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE). Orphanet ICD-10:M33.2 UMLS:C5679784 Not applicable Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206572 Overlap myositis ORPHA:206572 ICD-10:M33.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679784 E (Exact mapping: the two concepts are equivalent) Acquired rippling muscle disease Immune-mediated rippling muscle disease Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by <i>CAV3</i> mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea). Orphanet ICD-10:G70.8 ICD-11:8C60.Y UMLS:C4749335 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206575 Rippling muscle disease with myasthenia gravis ORPHA:206575 ICD-10:G70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749335 E (Exact mapping: the two concepts are equivalent) Autosomal recessive distal spinal muscular atrophy type 4 Distal spinal muscular atrophy type 4 dSMA4 A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. Orphanet ICD-10:G12.2 ICD-11:8B61.4 MeSH:C567023 OMIM:611067 UMLS:C1970211 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206580 Autosomal recessive lower motor neuron disease with childhood onset ORPHA:206580 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567023 E (Exact mapping: the two concepts are equivalent) OMIM:611067 E (Exact mapping: the two concepts are equivalent) UMLS:C1970211 E (Exact mapping: the two concepts are equivalent) APBD A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:C564878 MedDRA:10077946 OMIM:263570 UMLS:C1849722 Autosomal recessive Adult Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206583 Adult polyglucosan body disease Clinical subtype ORPHA:206583 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564878 E (Exact mapping: the two concepts are equivalent) MedDRA:10077946 E (Exact mapping: the two concepts are equivalent) OMIM:263570 E (Exact mapping: the two concepts are equivalent) UMLS:C1849722 E (Exact mapping: the two concepts are equivalent) Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies. Orphanet ICD-10:C96.7 ICD-10:G63.1 ICD-11:8C01.Y MeSH:D000077162 UMLS:C4553088 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206586 Neurolymphomatosis ORPHA:206586 ICD-10:C96.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G63.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000077162 E (Exact mapping: the two concepts are equivalent) UMLS:C4553088 E (Exact mapping: the two concepts are equivalent) Subacute inflammatory demyelinating polyradiculoneuropathy Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms). Orphanet ICD-10:G61.8 ICD-11:8C01.2 MedDRA:10081726 UMLS:C0456517 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206594 Subacute inflammatory demyelinating polyneuropathy ORPHA:206594 ICD-10:G61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10081726 E (Exact mapping: the two concepts are equivalent) UMLS:C0456517 E (Exact mapping: the two concepts are equivalent) Idiopathic asymptomatic hyperCKemia Isolated asymptomatic hyperCKemia A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels. Orphanet ICD-10:R74.8 OMIM:123320 UMLS:C4751434 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206599 Isolated asymptomatic elevation of creatine phosphokinase ORPHA:206599 ICD-10:R74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:123320 E (Exact mapping: the two concepts are equivalent) UMLS:C4751434 E (Exact mapping: the two concepts are equivalent) GABA transaminase deficiency A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. Orphanet ICD-10:E72.8 ICD-11:5C59.1 MeSH:C535407 OMIM:613163 UMLS:C0342708 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2066 Gamma-aminobutyric acid transaminase deficiency ORPHA:2066 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535407 E (Exact mapping: the two concepts are equivalent) OMIM:613163 E (Exact mapping: the two concepts are equivalent) UMLS:C0342708 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Qualitative or quantitative defects of dystrophin OBSOLETE: Other muscle weakness and/or chronic muscle pain ORPHA:206606 OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain ORPHA:206610 UMLS:C1278821 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206613 Infectious disease with peripheral neuropathy Category ORPHA:206613 UMLS:C1278821 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acquired peripheral neuropathy OBSOLETE: Acquired metabolic neuropathy ORPHA:206616 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acquired peripheral neuropathy OBSOLETE: Toxic or/and iatrogenic neuropathy ORPHA:206619 UMLS:C5680800 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206634 Genetic skeletal muscle disease Category ORPHA:206634 UMLS:C5680800 E (Exact mapping: the two concepts are equivalent) UMLS:C5680799 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206638 Acquired skeletal muscle disease Category ORPHA:206638 UMLS:C5680799 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206644 Progressive muscular dystrophy Category ORPHA:206644 ICD-10:G71.1 ICD-11:8C71.0 MeSH:D009223 MedDRA:10068871 UMLS:C0027126 Croatia AND has_point_prevalence_average_value : 13.3 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 8.78 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Ireland AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 5.5 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 11.6 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 1.22 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 10.9 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 189.0 AND has_point_prevalence_range : >1 / 1000 United States AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206647 Myotonic dystrophy Clinical group ORPHA:206647 ICD-10:G71.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C71.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009223 E (Exact mapping: the two concepts are equivalent) MedDRA:10068871 E (Exact mapping: the two concepts are equivalent) UMLS:C0027126 E (Exact mapping: the two concepts are equivalent) UMLS:C5680803 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206650 Autosomal dominant distal myopathy Category ORPHA:206650 UMLS:C5680803 E (Exact mapping: the two concepts are equivalent) UMLS:C5680801 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206653 Autosomal recessive distal myopathy Category ORPHA:206653 UMLS:C5680801 E (Exact mapping: the two concepts are equivalent) UMLS:C5680802 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206656 Non-dystrophic myopathy Category ORPHA:206656 UMLS:C5680802 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Qualitative or quantitative defects of collagen 6 OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly ORPHA:206659 UMLS:C5680794 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206662 Inclusion myopathy Category ORPHA:206662 UMLS:C5680794 E (Exact mapping: the two concepts are equivalent) Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C535642 OMIM:230740 UMLS:C0406723 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2067 GAPO syndrome ORPHA:2067 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535642 E (Exact mapping: the two concepts are equivalent) OMIM:230740 E (Exact mapping: the two concepts are equivalent) UMLS:C0406723 E (Exact mapping: the two concepts are equivalent) UMLS:C0393547 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206701 Bulbospinal muscular atrophy Category ORPHA:206701 UMLS:C0393547 E (Exact mapping: the two concepts are equivalent) UMLS:C5680797 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206704 Bulbospinal muscular atrophy of childhood Clinical group ORPHA:206704 UMLS:C5680797 E (Exact mapping: the two concepts are equivalent) UMLS:C5680796 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206707 Bulbospinal muscular atrophy of adult Clinical group ORPHA:206707 UMLS:C5680796 E (Exact mapping: the two concepts are equivalent) UMLS:C5680795 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206710 Generalized bulbospinal muscular atrophy Clinical group ORPHA:206710 UMLS:C5680795 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Distal hereditary motor neuropathy OBSOLETE: Distal spinal muscular atrophy ORPHA:206713 6p22.1 ZNF698 bA145L22 bA145L22.2 ClinVar:ZFP57 Ensembl:ENSG00000204644 Genatlas:ZFP57 HGNC:18791 OMIM:612192 SwissProt:Q9NU63 ZFP57 ZFP57 zinc finger protein A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q85.8 ICD-11:EC23.1 MeSH:C535651 OMIM:137270 UMLS:C1850899 Adolescent Adult Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2069 Gastrocutaneous syndrome ORPHA:2069 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535651 E (Exact mapping: the two concepts are equivalent) OMIM:137270 E (Exact mapping: the two concepts are equivalent) UMLS:C1850899 E (Exact mapping: the two concepts are equivalent) Lipid storage myopathy MeSH:C562935 UMLS:C0410214 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206953 Muscular lipidosis Category ORPHA:206953 MeSH:C562935 E (Exact mapping: the two concepts are equivalent) UMLS:C0410214 E (Exact mapping: the two concepts are equivalent) Glycogen storage myopathy UMLS:C5679786 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206959 Muscular glycogenosis Clinical group ORPHA:206959 UMLS:C5679786 E (Exact mapping: the two concepts are equivalent) ICD-10:G71.3 ICD-11:8C73 MeSH:D017240 MedDRA:10027710 UMLS:C0162670 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206966 Mitochondrial myopathy Category ORPHA:206966 ICD-10:G71.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C73 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017240 E (Exact mapping: the two concepts are equivalent) MedDRA:10027710 E (Exact mapping: the two concepts are equivalent) UMLS:C0162670 E (Exact mapping: the two concepts are equivalent) MeSH:D020967 MedDRA:10028658 UMLS:C5680798 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206970 Myotonic syndrome Category ORPHA:206970 MeSH:D020967 E (Exact mapping: the two concepts are equivalent) MedDRA:10028658 E (Exact mapping: the two concepts are equivalent) UMLS:C5680798 E (Exact mapping: the two concepts are equivalent) ICD-11:8C71.2 MeSH:D009224 MedDRA:10049841 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206973 Congenital myotonia Clinical group ORPHA:206973 ICD-11:8C71.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009224 E (Exact mapping: the two concepts are equivalent) MedDRA:10049841 E (Exact mapping: the two concepts are equivalent) ICD-10:G72.3 ICD-11:8C74.1 MeSH:D010245 MedDRA:10016208 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206976 Periodic paralysis Clinical group ORPHA:206976 ICD-10:G72.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C74.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010245 E (Exact mapping: the two concepts are equivalent) MedDRA:10016208 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Idiopathic inflammatory myopathy OBSOLETE: Granulomatous myositis ORPHA:206979 MeSH:D019042 MedDRA:10070956 UMLS:C0282606 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206982 Muscular tumor Category ORPHA:206982 MeSH:D019042 E (Exact mapping: the two concepts are equivalent) MedDRA:10070956 E (Exact mapping: the two concepts are equivalent) UMLS:C0282606 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Acquired skeletal muscle disease OBSOLETE: Drug and/or toxic myopathy ORPHA:206985 ICD-11:FB30 UMLS:C5680819 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206988 Infectious, fungal or parasitic myopathy Category ORPHA:206988 ICD-11:FB30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680819 E (Exact mapping: the two concepts are equivalent) A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported. Orphanet ICD-10:M60.0 ICD-11:FB30 MedDRA:10051512 UMLS:C0150005 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206991 Viral myositis ORPHA:206991 ICD-10:M60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10051512 E (Exact mapping: the two concepts are equivalent) UMLS:C0150005 E (Exact mapping: the two concepts are equivalent) A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene. Orphanet ICD-10:M60.0 ICD-11:FB30 MedDRA:10085526 UMLS:C0263979 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206994 Bacterial myositis ORPHA:206994 ICD-10:M60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10085526 E (Exact mapping: the two concepts are equivalent) UMLS:C0263979 E (Exact mapping: the two concepts are equivalent) UMLS:C0263997 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=206997 Parasitic myositis Category ORPHA:206997 UMLS:C0263997 E (Exact mapping: the two concepts are equivalent) Crouzon craniofacial dysostosis Crouzon disease is characterized by craniosynostosis and facial hypoplasia. Orphanet ICD-10:Q75.1 ICD-11:LD24.G1 OMIM:123500 Autosomal dominant Infancy Neonatal Australia AND has_birth_prevalence_average_value : 2.6 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207 Crouzon syndrome ORPHA:207 ICD-10:Q75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.G1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:123500 E (Exact mapping: the two concepts are equivalent) EGE Eosinophilic enteritis Eosinophilic gastroenterocolitis A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall. Orphanet ICD-10:K52.8 ICD-11:DA94.21 MeSH:C535952 MedDRA:10017902 UMLS:C1262481 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 280.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2070 Eosinophilic gastroenteritis ORPHA:2070 ICD-10:K52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA94.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535952 E (Exact mapping: the two concepts are equivalent) MedDRA:10017902 E (Exact mapping: the two concepts are equivalent) UMLS:C1262481 E (Exact mapping: the two concepts are equivalent) A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are <i>Candida</i> species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are <i>Cryptococcus neoformans</i>, <i>Histoplasma capsulatum</i>, <i>Coccidioides</i> species, or <i>Aspergillus</i> species, among others. Orphanet ICD-10:M60.0 ICD-11:FB30 MedDRA:10086251 UMLS:C0410251 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207000 Fungal myositis ORPHA:207000 ICD-10:M60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10086251 E (Exact mapping: the two concepts are equivalent) UMLS:C0410251 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Acquired skeletal muscle disease OBSOLETE: Endocrine myopathy ORPHA:207003 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Acquired skeletal muscle disease OBSOLETE: Acquired amyloid myopathy ORPHA:207006 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Acquired skeletal muscle disease OBSOLETE: Acquired rod-body myopathy ORPHA:207009 UMLS:C5680818 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207012 Spinal muscular atrophy associated with central nervous system anomaly Clinical group ORPHA:207012 UMLS:C5680818 E (Exact mapping: the two concepts are equivalent) UMLS:C5680817 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207015 Rare hereditary disease with peripheral neuropathy Category ORPHA:207015 UMLS:C5680817 E (Exact mapping: the two concepts are equivalent) UMLS:C5680814 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207018 Rare hereditary metabolic disease with peripheral neuropathy Category ORPHA:207018 UMLS:C5680814 E (Exact mapping: the two concepts are equivalent) UMLS:C5680813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207021 Rare hereditary systemic disease with peripheral neuropathy Category ORPHA:207021 UMLS:C5680813 E (Exact mapping: the two concepts are equivalent) UMLS:C5680816 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207025 Rare hereditary neurologic disease with peripheral neuropathy Category ORPHA:207025 UMLS:C5680816 E (Exact mapping: the two concepts are equivalent) ICD-10:G60.2 UMLS:C5680815 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207028 Cerebellar ataxia with peripheral neuropathy Category ORPHA:207028 ICD-10:G60.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680815 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Corpus callosum agenesis-neuronopathy syndrome OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy ORPHA:207031 Acute and subacute inflammatory demyelinating polyradiculoneuropathy UMLS:C5679791 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207038 Acute and subacute inflammatory demyelinating polyneuropathy Category ORPHA:207038 UMLS:C5679791 E (Exact mapping: the two concepts are equivalent) UMLS:C5680812 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207046 Malignant lymphoma with peripheral neuropathy Category ORPHA:207046 UMLS:C5680812 E (Exact mapping: the two concepts are equivalent) UMLS:C5680807 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207049 Qualitative or quantitative protein defects in neuromuscular diseases Category ORPHA:207049 UMLS:C5680807 E (Exact mapping: the two concepts are equivalent) Sarcoglycanopathy MeSH:D058088 MedDRA:10083931 UMLS:C2936331 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207052 Qualitative or quantitative defects of sarcoglycan Category ORPHA:207052 MeSH:D058088 E (Exact mapping: the two concepts are equivalent) MedDRA:10083931 E (Exact mapping: the two concepts are equivalent) UMLS:C2936331 E (Exact mapping: the two concepts are equivalent) UMLS:C5680808 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207060 Qualitative or quantitative defects of alpha-sarcoglycan Category ORPHA:207060 UMLS:C5680808 E (Exact mapping: the two concepts are equivalent) UMLS:C5680809 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207063 Qualitative or quantitative defects of beta-sarcoglycan Category ORPHA:207063 UMLS:C5680809 E (Exact mapping: the two concepts are equivalent) UMLS:C5680805 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207067 Qualitative or quantitative defects of gamma-sarcoglycan Category ORPHA:207067 UMLS:C5680805 E (Exact mapping: the two concepts are equivalent) UMLS:C5680806 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207070 Qualitative or quantitative defects of delta-sarcoglycan Category ORPHA:207070 UMLS:C5680806 E (Exact mapping: the two concepts are equivalent) Dysferlinopathy MeSH:C537995 UMLS:C2931687 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207073 Qualitative or quantitative defects of dysferlin Category ORPHA:207073 MeSH:C537995 E (Exact mapping: the two concepts are equivalent) UMLS:C2931687 E (Exact mapping: the two concepts are equivalent) Caveolinopathy UMLS:C5679790 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207078 Qualitative or quantitative defects of caveolin-3 Category ORPHA:207078 UMLS:C5679790 E (Exact mapping: the two concepts are equivalent) Dystrophinopathy UMLS:C5679787 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207085 Qualitative or quantitative defects of dystrophin Category ORPHA:207085 UMLS:C5679787 E (Exact mapping: the two concepts are equivalent) UMLS:C5680804 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207090 Qualitative or quantitative defects of collagen 6 Category ORPHA:207090 UMLS:C5680804 E (Exact mapping: the two concepts are equivalent) LAMA2-related muscular dystrophy Qualitative or quantitative defects of merosin UMLS:C5679788 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207094 Laminin subunit alpha 2-related muscular dystrophy Category ORPHA:207094 UMLS:C5679788 E (Exact mapping: the two concepts are equivalent) Integrinopathy UMLS:C5679789 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207098 Qualitative or quantitative defects of integrin alpha-7 Category ORPHA:207098 UMLS:C5679789 E (Exact mapping: the two concepts are equivalent) UMLS:C5680831 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207101 Qualitative or quantitative defects of perlecan Category ORPHA:207101 UMLS:C5680831 E (Exact mapping: the two concepts are equivalent) UMLS:C5680830 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207104 Qualitative or quantitative defects of calpain Category ORPHA:207104 UMLS:C5680830 E (Exact mapping: the two concepts are equivalent) UMLS:C5680829 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207107 Qualitative or quantitative defects of TRIM32 Category ORPHA:207107 UMLS:C5680829 E (Exact mapping: the two concepts are equivalent) UMLS:C5680828 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207110 Qualitative or quantitative defects of myotubularin Category ORPHA:207110 UMLS:C5680828 E (Exact mapping: the two concepts are equivalent) Secondary alpha-dystroglycanopathy Secondary dystroglycanopathy UMLS:C5679795 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan Category ORPHA:207113 UMLS:C5679795 E (Exact mapping: the two concepts are equivalent) UMLS:C5680827 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207119 Qualitative or quantitative defects of FKRP Category ORPHA:207119 UMLS:C5680827 E (Exact mapping: the two concepts are equivalent) UMLS:C5681836 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207122 Qualitative or quantitative defects of fukutin Category ORPHA:207122 UMLS:C5681836 E (Exact mapping: the two concepts are equivalent) Cardiovascular Gaucher disease Gaucher disease type 3C Gaucher-like disease Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y OMIM:231005 UMLS:C2931585 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Clinical subtype ORPHA:2072 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:231005 E (Exact mapping: the two concepts are equivalent) UMLS:C2931585 E (Exact mapping: the two concepts are equivalent) Gélineau disease Hypocretin/orexin deficiency syndrome Narcolepsy-cataplexy A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions). Orphanet ICD-10:G47.4 ICD-11:7A20.0 OMIM:161400 OMIM:605841 OMIM:609039 OMIM:612417 OMIM:612851 OMIM:614223 OMIM:614250 UMLS:C4543926 Unknown Adolescent Adult Childhood China AND has_point_prevalence_average_value : 34.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 26.0 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 28.9 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2073 Narcolepsy type 1 ORPHA:2073 ICD-10:G47.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:7A20.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:161400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605841 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609039 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612417 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612851 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614223 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614250 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4543926 E (Exact mapping: the two concepts are equivalent) Spinocerebellar ataxia-amyotrophy-deafness syndrome Spinocerebellar ataxia-amyotrophy-hearing loss syndrome Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:G31.8 MeSH:C537678 UMLS:C2931587 Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2074 Gemignani syndrome ORPHA:2074 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537678 E (Exact mapping: the two concepts are equivalent) UMLS:C2931587 E (Exact mapping: the two concepts are equivalent) Gardner-Silengo-Wachtel syndrome A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537683 OMIM:231060 UMLS:C1856466 Antenatal Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2075 Genitopalatocardiac syndrome ORPHA:2075 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537683 E (Exact mapping: the two concepts are equivalent) OMIM:231060 E (Exact mapping: the two concepts are equivalent) UMLS:C1856466 E (Exact mapping: the two concepts are equivalent) OMIM:300088 OMIM:300423 OMIM:300607 UMLS:C5680771 X-linked dominant X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2076 X-linked intellectual disability-epilepsy syndrome Clinical group ORPHA:2076 OMIM:300088 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300423 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300607 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680771 E (Exact mapping: the two concepts are equivalent) Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.8 MeSH:C562543 OMIM:231080 UMLS:C3887495 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2077 German syndrome ORPHA:2077 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562543 E (Exact mapping: the two concepts are equivalent) OMIM:231080 E (Exact mapping: the two concepts are equivalent) UMLS:C3887495 E (Exact mapping: the two concepts are equivalent) Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. Orphanet ICD-10:Q82.8 ICD-11:LD2B MeSH:C537799 OMIM:231070 UMLS:C0432255 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2078 Geroderma osteodysplastica ORPHA:2078 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537799 E (Exact mapping: the two concepts are equivalent) OMIM:231070 E (Exact mapping: the two concepts are equivalent) UMLS:C0432255 E (Exact mapping: the two concepts are equivalent) Cramer-Niederdellmann syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Gorlin syndrome Cerebral gigantism-jaw cysts syndrome ORPHA:2081 MacDermot-Winter syndrome A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Orphanet ICD-10:Q87.8 MeSH:C537714 OMIM:247990 UMLS:C0796024 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2083 Prominent glabella-microcephaly-hypogenitalism syndrome ORPHA:2083 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537714 E (Exact mapping: the two concepts are equivalent) OMIM:247990 E (Exact mapping: the two concepts are equivalent) UMLS:C0796024 E (Exact mapping: the two concepts are equivalent) 9q34.11 ACSVL4 FATP-4 FATP4 Long-chain fatty acid transport protein 4 acyl-CoA synthetase very long chain family member 4 fatty acid transport protein 4 ClinVar:SLC27A4 Ensembl:ENSG00000167114 Genatlas:SLC27A4 HGNC:10998 IUPHAR:1111 OMIM:604194 Reactome:Q6P1M0 SwissProt:Q6P1M0 SLC27A4 solute carrier family 27 member 4 10q23.33 ACHM5 COD4 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha PDEA2 ClinVar:PDE6C Ensembl:ENSG00000095464 Genatlas:PDE6C HGNC:8787 IUPHAR:1314 OMIM:600827 SwissProt:P51160 PDE6C phosphodiesterase 6C 20q13.12 ClinVar:MMP9 Ensembl:ENSG00000100985 Genatlas:MMP9 HGNC:7176 IUPHAR:1633 OMIM:120361 Reactome:P14780 SwissProt:P14780 MMP9 matrix metallopeptidase 9 14q32.2 ClinVar:VRK1 Ensembl:ENSG00000100749 Genatlas:VRK1 HGNC:12718 IUPHAR:2275 OMIM:602168 Reactome:Q99986 SwissProt:Q99986 VRK1 VRK serine/threonine kinase 1 9q34.3 CORS1 PPI5PIV Phosphatidylinositol polyphosphate 5-phosphatase type IV pharbin ClinVar:INPP5E Ensembl:ENSG00000148384 Genatlas:INPP5E HGNC:21474 IUPHAR:1456 OMIM:613037 Reactome:Q9NRR6 SwissProt:Q9NRR6 INPP5E inositol polyphosphate-5-phosphatase E GEMSS syndrome A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. Orphanet ICD-10:Q87.1 MeSH:C537679 OMIM:608328 UMLS:C2931588 Autosomal dominant All ages Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537679 E (Exact mapping: the two concepts are equivalent) OMIM:608328 E (Exact mapping: the two concepts are equivalent) UMLS:C2931588 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 ICD-11:LA05.50 OMIM:612691 UMLS:C5437680 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208441 Bilateral parasagittal parieto-occipital polymicrogyria Clinical subtype ORPHA:208441 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612691 E (Exact mapping: the two concepts are equivalent) UMLS:C5437680 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 ICD-11:LA05.50 UMLS:C5437679 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208444 Bilateral frontal polymicrogyria Clinical subtype ORPHA:208444 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437679 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 ICD-11:LA05.50 UMLS:C5139324 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208447 Bilateral generalized polymicrogyria Clinical subtype ORPHA:208447 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5139324 E (Exact mapping: the two concepts are equivalent) Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). Orphanet ICD-10:H40.8 OMIM:137763 UMLS:C4304308 Unknown No data available Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2085 Glaucoma-sleep apnea syndrome ORPHA:2085 ICD-10:H40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:137763 E (Exact mapping: the two concepts are equivalent) UMLS:C4304308 E (Exact mapping: the two concepts are equivalent) ADCA2 ADCAII Autosomal dominant cerebellar ataxia type 2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208508 Autosomal dominant cerebellar ataxia type II Clinical group ORPHA:208508 Congenital nonprogressive spinocerebellar ataxia SCA29 An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Orphanet ICD-10:G11.0 ICD-11:8A03.16 MeSH:C537206 OMIM:117360 UMLS:C1861732 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208513 Spinocerebellar ataxia type 29 ORPHA:208513 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537206 E (Exact mapping: the two concepts are equivalent) OMIM:117360 E (Exact mapping: the two concepts are equivalent) UMLS:C1861732 E (Exact mapping: the two concepts are equivalent) A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis). Orphanet ICD-10:L10.8 UMLS:C4749730 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208524 Herpetiform pemphigus ORPHA:208524 ICD-10:L10.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749730 E (Exact mapping: the two concepts are equivalent) UMLS:C5680825 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208593 Genetic hypoparathyroidism Category ORPHA:208593 UMLS:C5680825 E (Exact mapping: the two concepts are equivalent) UMLS:C5680826 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208596 Genetic hyperparathyroidism Category ORPHA:208596 UMLS:C5680826 E (Exact mapping: the two concepts are equivalent) Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term). Orphanet ICD-10:D33.3 ICD-11:2A02.0Y MedDRA:10073338 UMLS:C0796418 Not applicable All ages Europe AND has_point_prevalence_range : Unknown Worldwide AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2086 Optic pathway glioma ORPHA:2086 ICD-10:D33.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073338 E (Exact mapping: the two concepts are equivalent) UMLS:C0796418 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Cardiac papillary fibroelastoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cardiac tumor OBSOLETE: Papillary fibroelastoma of the heart ORPHA:208600 CAPS Cryopyrin associated periodic syndrome Cryopyrinopathy NLRP3-associated AID NLRP3-associated autoinflammatory syndrome Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms). Orphanet ICD-11:4A60.1 MeSH:D056587 MedDRA:10068850 UMLS:C2316212 Autosomal dominant Not applicable Adolescent Childhood Infancy Neonatal France AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208650 NLRP3-associated autoinflammatory disease Clinical group ORPHA:208650 ICD-11:4A60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D056587 E (Exact mapping: the two concepts are equivalent) MedDRA:10068850 E (Exact mapping: the two concepts are equivalent) UMLS:C2316212 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MeSH:C536825 UMLS:C1841989 Glomerulonephritis-sparse hair-telangiectasis syndrome ORPHA:2087 MeSH:C536825 E (Exact mapping: the two concepts are equivalent) UMLS:C1841989 E (Exact mapping: the two concepts are equivalent) GSD due to GLUT2 deficiency Glycogen storage disease due to GLUT2 deficiency Glycogenosis due to GLUT2 deficiency A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:227810 UMLS:C3495427 Autosomal recessive Infancy Neonatal Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2088 Fanconi-Bickel syndrome ORPHA:2088 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:227810 E (Exact mapping: the two concepts are equivalent) UMLS:C3495427 E (Exact mapping: the two concepts are equivalent) GSD due to hepatic glycogen synthase deficiency GSD type 0a Glycogen storage disease due to liver glycogen synthase deficiency Glycogen storage disease type 0a Glycogenosis type 0a A rare genetically inherited anomaly of glycogen metabolism, considered a form of glycogen storage disease (GSD, or glycogenosis), characterized by post-meal hyperglycemia and fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as there is no storage of glycogen, the enzyme deficiency preventing hepatic glycogen synthesis. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:240600 UMLS:C4510753 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2089 Glycogen storage disease due to hepatic glycogen synthase deficiency ORPHA:2089 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:240600 E (Exact mapping: the two concepts are equivalent) UMLS:C4510753 E (Exact mapping: the two concepts are equivalent) CADP https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208974 Chronic acquired demyelinating polyneuropathy Clinical group ORPHA:208974 UMLS:C5680824 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208978 Chronic polyradiculoneuropathy Clinical group ORPHA:208978 UMLS:C5680824 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Peripheral neuropathy associated with monoclonal gammopathy OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies ORPHA:208981 Acquired sensory neuronopathy UMLS:C5679794 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208984 Acquired sensory ganglionopathy Category ORPHA:208984 UMLS:C5679794 E (Exact mapping: the two concepts are equivalent) Non-paraneoplastic sensory neuronopathy ICD-10:G60.8 UMLS:C5679793 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208989 Non-paraneoplastic sensory ganglionopathy ORPHA:208989 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679793 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Other neuronopathy related to autoimmune diseases This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-paraneoplastic sensory ganglionopathy OBSOLETE: Other ganglionopathy related to autoimmune diseases ORPHA:208994 Paraneoplastic sensory neuronopathy ICD-10:G60.8 ICD-11:8E4A.1 UMLS:C5679792 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=208999 Paraneoplastic sensory ganglionopathy ORPHA:208999 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E4A.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679792 E (Exact mapping: the two concepts are equivalent) Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. Orphanet ICD-11:EE41.0 MeSH:D003483 MedDRA:10011692 UMLS:C0010495 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Europe AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209 Cutis laxa Clinical group ORPHA:209 ICD-11:EE41.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003483 E (Exact mapping: the two concepts are equivalent) MedDRA:10011692 E (Exact mapping: the two concepts are equivalent) UMLS:C0010495 E (Exact mapping: the two concepts are equivalent) Goniodysgenesis-intellectual disability-short stature syndrome GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 MeSH:C564214 OMIM:138770 UMLS:C1841854 Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2090 GMS syndrome ORPHA:2090 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564214 E (Exact mapping: the two concepts are equivalent) OMIM:138770 E (Exact mapping: the two concepts are equivalent) UMLS:C1841854 E (Exact mapping: the two concepts are equivalent) A rare acquired peripheral neuropathy characterized by symmetric, slowly progressive, predominantly sensory neuropathy, mostly limited to the legs with numbness and paresthesia of the distal leg and mild imbalance. Some patients may experience pain, weakness of foot dorsiflexion, mild proximal leg weakness, and/or upper limb involvement. The majority of patients have IgG monoclonal gammopathy. Systemic illnesses are absent in most cases. Orphanet ICD-10:G61.8 UMLS:C5680822 Not applicable Adult Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy ORPHA:209004 ICD-10:G61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680822 E (Exact mapping: the two concepts are equivalent) UMLS:C5680820 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy Category ORPHA:209007 UMLS:C5680820 E (Exact mapping: the two concepts are equivalent) UMLS:C5680821 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209010 Peripheral neuropathy associated with monoclonal gammopathy Category ORPHA:209010 UMLS:C5680821 E (Exact mapping: the two concepts are equivalent) UMLS:C5680847 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209013 Acquired amyloid peripheral neuropathy Category ORPHA:209013 UMLS:C5680847 E (Exact mapping: the two concepts are equivalent) UMLS:C5680846 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209016 Hematological disease associated with an acquired peripheral neuropathy Category ORPHA:209016 UMLS:C5680846 E (Exact mapping: the two concepts are equivalent) UMLS:C5680848 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209019 Solid tumor associated with an acquired peripheral neuropathy Category ORPHA:209019 UMLS:C5680848 E (Exact mapping: the two concepts are equivalent) Qualitative or quantitative defects of protein POMGNT1 UMLS:C5679796 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase Category ORPHA:209024 UMLS:C5679796 E (Exact mapping: the two concepts are equivalent) UMLS:C5680850 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209027 Qualitative or quantitative defects of protein glycosyltransferase-like Category ORPHA:209027 UMLS:C5680850 E (Exact mapping: the two concepts are equivalent) UMLS:C5680849 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 Category ORPHA:209030 UMLS:C5680849 E (Exact mapping: the two concepts are equivalent) UMLS:C5680852 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 Category ORPHA:209033 UMLS:C5680852 E (Exact mapping: the two concepts are equivalent) UMLS:C5680851 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209038 Qualitative or quantitative defects of myofibrillar proteins Category ORPHA:209038 UMLS:C5680851 E (Exact mapping: the two concepts are equivalent) UMLS:C5680839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209041 Qualitative or quantitative defects of desmin Category ORPHA:209041 UMLS:C5680839 E (Exact mapping: the two concepts are equivalent) UMLS:C5680838 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209044 Qualitative or quantitative defects of alphaB-cristallin Category ORPHA:209044 UMLS:C5680838 E (Exact mapping: the two concepts are equivalent) UMLS:C5680841 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209047 Qualitative or quantitative defects of filamin C Category ORPHA:209047 UMLS:C5680841 E (Exact mapping: the two concepts are equivalent) UMLS:C5680840 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209050 Qualitative or quantitative defects of protein ZASP Category ORPHA:209050 UMLS:C5680840 E (Exact mapping: the two concepts are equivalent) UMLS:C5680843 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209053 Qualitative or quantitative defects of titin Category ORPHA:209053 UMLS:C5680843 E (Exact mapping: the two concepts are equivalent) UMLS:C5680842 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209056 Qualitative or quantitative defects of telethonin Category ORPHA:209056 UMLS:C5680842 E (Exact mapping: the two concepts are equivalent) UMLS:C5680845 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209059 Qualitative or quantitative defects of alpha-actin Category ORPHA:209059 UMLS:C5680845 E (Exact mapping: the two concepts are equivalent) Daneman-Davy-Mancer syndrome Thyroid-renal-digital anomalies Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Orphanet ICD-10:Q87.8 MeSH:C535986 OMIM:138790 UMLS:C1841853 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2091 Multinodular goiter-cystic kidney-polydactyly syndrome ORPHA:2091 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535986 E (Exact mapping: the two concepts are equivalent) OMIM:138790 E (Exact mapping: the two concepts are equivalent) UMLS:C1841853 E (Exact mapping: the two concepts are equivalent) UMLS:C5680844 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209182 Qualitative or quantitative defects of nebulin Category ORPHA:209182 UMLS:C5680844 E (Exact mapping: the two concepts are equivalent) UMLS:C5680832 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) Category ORPHA:209185 UMLS:C5680832 E (Exact mapping: the two concepts are equivalent) UMLS:C5680833 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209188 Qualitative or quantitative defects of emerin Category ORPHA:209188 UMLS:C5680833 E (Exact mapping: the two concepts are equivalent) UMLS:C5680834 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209193 Qualitative or quantitative defects of selenoprotein N1 Category ORPHA:209193 UMLS:C5680834 E (Exact mapping: the two concepts are equivalent) UMLS:C5680835 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209196 Qualitative or quantitative defects of plectin Category ORPHA:209196 UMLS:C5680835 E (Exact mapping: the two concepts are equivalent) UMLS:C5680836 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209199 Qualitative or quantitative defects of protein SERCA1 Category ORPHA:209199 UMLS:C5680836 E (Exact mapping: the two concepts are equivalent) Goltz syndrome Goltz-Gorlin syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:D005489 OMIM:305600 UMLS:C0016395 X-linked dominant Neonatal Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2092 Focal dermal hypoplasia ORPHA:2092 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005489 E (Exact mapping: the two concepts are equivalent) OMIM:305600 E (Exact mapping: the two concepts are equivalent) UMLS:C0016395 E (Exact mapping: the two concepts are equivalent) UMLS:C5680837 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - Category ORPHA:209203 UMLS:C5680837 E (Exact mapping: the two concepts are equivalent) Qualitative or quantitative defects of myotilin ICD-11:8C76 MeSH:C563775 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209224 Myotilinopathy Category ORPHA:209224 ICD-11:8C76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563775 E (Exact mapping: the two concepts are equivalent) 14q23.2 DKFZP434H2235 KIAA1011 NUA NUANCE Nesp2 Nesprin-2 SYNE-2 nuclear envelope spectrin repeat-2 nucleus and actin connecting element ClinVar:SYNE2 Ensembl:ENSG00000054654 Genatlas:SYNE2 HGNC:17084 OMIM:608442 Reactome:Q8WXH0 SwissProt:Q8WXH0 SYNE2 spectrin repeat containing nuclear envelope protein 2 11q12.2 FLJ20487 SDH5 ClinVar:SDHAF2 Ensembl:ENSG00000167985 Genatlas:SDHAF2 HGNC:26034 OMIM:613019 SwissProt:Q9NX18 SDHAF2 succinate dehydrogenase complex assembly factor 2 14q32.13 Dicer HERNA K12H4.8-LIKE KIAA0928 dicer 1, double-stranded RNA-specific endoribonuclease ClinVar:DICER1 Ensembl:ENSG00000100697 Genatlas:DICER1 HGNC:17098 OMIM:606241 Reactome:Q9UPY3 SwissProt:Q9UPY3 DICER1 dicer 1, ribonuclease III 19q13.33 FLJ20041 ClinVar:TRPM4 Ensembl:ENSG00000130529 Genatlas:TRPM4 HGNC:17993 IUPHAR:496 OMIM:606936 Reactome:Q8TD43 SwissProt:Q8TD43 TRPM4 transient receptor potential cation channel subfamily M member 4 Xp11.22 Ib772 KIAA0312 UREB1 ClinVar:HUWE1 Ensembl:ENSG00000086758 Genatlas:HUWE1 HGNC:30892 OMIM:300697 Reactome:Q7Z6Z7 SwissProt:Q7Z6Z7 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 7q33 BBF2 human homolog on chromosome 7 BBF2H7 TCAG_1951439 ClinVar:CREB3L2 Ensembl:ENSG00000182158 Genatlas:CREB3L2 HGNC:23720 OMIM:608834 Reactome:Q70SY1 SwissProt:Q70SY1 CREB3L2 cAMP responsive element binding protein 3 like 2 11p11.2 BBF-2 homolog (drosophila) OASIS old astrocyte specifically induced substance ClinVar:CREB3L1 Ensembl:ENSG00000157613 Genatlas:CREB3L1 HGNC:18856 OMIM:616215 Reactome:Q96BA8 SwissProt:Q96BA8 CREB3L1 cAMP responsive element binding protein 3 like 1 Autosomal dominant adult-onset proximal SMA Autosomal dominant late-onset spinal muscular atrophy, Finkel type Finkel disease SMAFK A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement. Orphanet ICD-10:G12.1 ICD-11:8B61.Y MeSH:C566673 OMIM:182980 UMLS:C1854058 Autosomal dominant Adult Elderly Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209335 Autosomal dominant adult-onset proximal spinal muscular atrophy ORPHA:209335 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566673 E (Exact mapping: the two concepts are equivalent) OMIM:182980 E (Exact mapping: the two concepts are equivalent) UMLS:C1854058 E (Exact mapping: the two concepts are equivalent) DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy SMALED1 ICD-10:G12.1 MeSH:C563560 OMIM:158600 UMLS:C5780022 Autosomal dominant Adult Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy Etiological subtype ORPHA:209341 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563560 E (Exact mapping: the two concepts are equivalent) OMIM:158600 E (Exact mapping: the two concepts are equivalent) UMLS:C5780022 E (Exact mapping: the two concepts are equivalent) Severe congenital encephalopathy due to MECP2 mutation Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Orphanet ICD-10:Q02 ICD-11:LD20.2 OMIM:300673 UMLS:C4749821 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209370 Severe neonatal-onset encephalopathy with microcephaly ORPHA:209370 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300673 E (Exact mapping: the two concepts are equivalent) UMLS:C4749821 E (Exact mapping: the two concepts are equivalent) 12q13.12 PRPH1 ClinVar:PRPH Ensembl:ENSG00000135406 Genatlas:PRPH HGNC:9461 OMIM:170710 Reactome:P41219 SwissProt:P41219 PRPH peripherin 1p36.13 ClinVar:EPHA2 Ensembl:ENSG00000142627 Genatlas:EPHA2 HGNC:3386 IUPHAR:1822 OMIM:176946 Reactome:P29317 SwissProt:P29317 EPHA2 EPH receptor A2 Xp22.32 and Yp11.3 CD116 alpha-GM-CSF receptor alphaGMR ClinVar:CSF2RA Ensembl:ENSG00000198223 Genatlas:CSF2RA HGNC:2435 IUPHAR:1707 OMIM:306250 Reactome:P15509 SwissProt:P15509 CSF2RA colony stimulating factor 2 receptor subunit alpha 8q22.1 BMP13 KFS KFS1 ClinVar:GDF6 Ensembl:ENSG00000156466 Genatlas:GDF6 HGNC:4221 OMIM:601147 SwissProt:Q6KF10 GDF6 growth differentiation factor 6 17q11.2 NPHP9 ClinVar:NEK8 Ensembl:ENSG00000160602 Genatlas:NEK8 HGNC:13387 IUPHAR:2123 OMIM:609799 Reactome:Q86SG6 SwissProt:Q86SG6 NEK8 NIMA related kinase 8 Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome GCM syndrome Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies. Orphanet ICD-10:Q87.0 ICD-11:LD27.0Y OMIM:612289 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2095 Gorlin-Chaudhry-Moss syndrome ORPHA:2095 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612289 E (Exact mapping: the two concepts are equivalent) Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q87.5 ICD-11:LD24.KY MeSH:C537293 OMIM:138930 UMLS:C1841835 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2097 Grant syndrome ORPHA:2097 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537293 E (Exact mapping: the two concepts are equivalent) OMIM:138930 E (Exact mapping: the two concepts are equivalent) UMLS:C1841835 E (Exact mapping: the two concepts are equivalent) Chondrodysplasia, Grebe type A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. Orphanet ICD-10:Q78.8 ICD-11:LD24.9 MeSH:C537915 OMIM:200700 UMLS:C0265260 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2098 Acromesomelic dysplasia, Grebe type ORPHA:2098 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537915 E (Exact mapping: the two concepts are equivalent) OMIM:200700 E (Exact mapping: the two concepts are equivalent) UMLS:C0265260 E (Exact mapping: the two concepts are equivalent) A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present. Orphanet ICD-10:H33.0 ICD-11:9B73.0 MeSH:C563710 OMIM:609508 UMLS:C1836081 Autosomal dominant Adult Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209867 Autosomal dominant rhegmatogenous retinal detachment ORPHA:209867 ICD-10:H33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B73.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563710 E (Exact mapping: the two concepts are equivalent) OMIM:609508 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1836081 E (Exact mapping: the two concepts are equivalent) OBSOLETE: FJHN type 1 OBSOLETE: Familial juvenile gouty nephropathy OBSOLETE: Familial nephropathy with gout OBSOLETE: UMOD-associated FJHN OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using UMOD-related autosomal dominant tubulointerstitial kidney disease OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 ORPHA:209886 NON RARE IN EUROPE: Congenital isolated TBG deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency ORPHA:209893 OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Grix-Blankenship-Peterson syndrome ORPHA:2099 A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated. Orphanet ICD-10:E78.0 UMLS:C4751204 Semi-dominant Adult Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ORPHA:209902 ICD-10:E78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751204 E (Exact mapping: the two concepts are equivalent) Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms). Orphanet ICD-10:E03.1 ICD-11:CB04.5 MeSH:C567034 OMIM:610978 UMLS:C1970269 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209905 Brain-lung-thyroid syndrome ORPHA:209905 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C567034 E (Exact mapping: the two concepts are equivalent) OMIM:610978 E (Exact mapping: the two concepts are equivalent) UMLS:C1970269 E (Exact mapping: the two concepts are equivalent) Isolated CAS Isolated developmental verbal dyspraxia Pure CAS Pure childhood apraxia of speech Speech and language disorder with orofacial dyspraxia Speech-language disorder type 1 A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits. Orphanet ICD-10:F80.0 OMIM:602081 UMLS:C0750927 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209908 Isolated childhood apraxia of speech ORPHA:209908 ICD-10:F80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602081 E (Exact mapping: the two concepts are equivalent) UMLS:C0750927 E (Exact mapping: the two concepts are equivalent) A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent. Orphanet ICD-10:C49.9 ICD-11:2B50.Y MeSH:C563195 MedDRA:10073134 OMIM:612237 UMLS:C1275278 Not applicable Adult Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209916 Extraskeletal myxoid chondrosarcoma ORPHA:209916 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563195 E (Exact mapping: the two concepts are equivalent) MedDRA:10073134 E (Exact mapping: the two concepts are equivalent) OMIM:612237 E (Exact mapping: the two concepts are equivalent) UMLS:C1275278 E (Exact mapping: the two concepts are equivalent) Non-Wilsonian hepatic copper toxicosis of infancy and childhood Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. Orphanet ICD-10:K74.6 ICD-11:DB93.21 OMIM:215600 UMLS:C4274853 Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209919 Idiopathic copper-associated cirrhosis ORPHA:209919 ICD-10:K74.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:DB93.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:215600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4274853 E (Exact mapping: the two concepts are equivalent) Cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal scotopic electroretinogram Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. Orphanet ICD-10:H35.5 ICD-11:9B7Y OMIM:610356 UMLS:C1835897 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209932 Cone dystrophy with supernormal rod response ORPHA:209932 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610356 E (Exact mapping: the two concepts are equivalent) UMLS:C1835897 E (Exact mapping: the two concepts are equivalent) Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss. Orphanet ICD-10:H35.0 ICD-11:9B7Y MedDRA:10073929 UMLS:C3665812 Not applicable Adolescent Adult Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209943 IRVAN syndrome ORPHA:209943 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073929 E (Exact mapping: the two concepts are equivalent) UMLS:C3665812 E (Exact mapping: the two concepts are equivalent) SPG18 Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the <i>ERLIN2</i> gene (8p11.2) encoding the protein, Erlin-2. Orphanet ICD-10:G11.4 MeSH:C567628 OMIM:611225 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209951 Autosomal spastic paraplegia type 18 ORPHA:209951 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567628 E (Exact mapping: the two concepts are equivalent) OMIM:611225 BTNT (ORPHAcode is broader than the targeted code used to represent it) A rare panuveitis characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment. Orphanet ICD-10:H31.8 ICD-11:9B6Y UMLS:C4755300 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209956 Idiopathic uveal effusion syndrome ORPHA:209956 ICD-10:H31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4755300 E (Exact mapping: the two concepts are equivalent) Endophthalmitis phacoanaphylactica Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Phacoallergic endophthalmitis Phacoantigenic endophthalmitis Phako-anaphylactic endophthalmitis A rare ophthalmic disorder characterized by a zonal granulomatous inflammatory reaction centered around the lens secondary to its traumatic rupture. Signs and symptoms include photophobia, ocular irritation or pain, blurred vision, redness, mutton-fat keratic precipitates, posterior synechiae, and sometimes hypopyon. Intraocular pressure may be elevated due to blockage of the trabecular meshwork by inflammatory cells or lens material. Orphanet ICD-10:H20.2 ICD-11:9A96.Y UMLS:C1444621 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209959 Phacoanaphylactic uveitis ORPHA:209959 ICD-10:H20.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9A96.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1444621 E (Exact mapping: the two concepts are equivalent) Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum. Orphanet ICD-10:K62.6 ICD-11:DB33.0 UMLS:C4274343 Not applicable Adult Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209964 Solitary rectal ulcer syndrome ORPHA:209964 ICD-10:K62.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274343 E (Exact mapping: the two concepts are equivalent) Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. Orphanet ICD-10:G11.8 ICD-11:8A03.14 MeSH:C567207 OMIM:612656 UMLS:C2675211 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209967 Episodic ataxia type 6 ORPHA:209967 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567207 E (Exact mapping: the two concepts are equivalent) OMIM:612656 E (Exact mapping: the two concepts are equivalent) UMLS:C2675211 E (Exact mapping: the two concepts are equivalent) Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. Orphanet ICD-10:G11.8 ICD-11:8A03.14 MeSH:C567459 OMIM:611907 UMLS:C2677843 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209970 Episodic ataxia type 7 ORPHA:209970 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567459 E (Exact mapping: the two concepts are equivalent) OMIM:611907 E (Exact mapping: the two concepts are equivalent) UMLS:C2677843 E (Exact mapping: the two concepts are equivalent) Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. Orphanet ICD-10:G81.9 UMLS:C4749822 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209973 Benign nocturnal alternating hemiplegia of childhood ORPHA:209973 ICD-10:G81.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749822 E (Exact mapping: the two concepts are equivalent) ICD-11:MB53.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209978 Alternating hemiplegia Clinical group ORPHA:209978 ICD-11:MB53.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Iron-refractory iron deficiency anemia IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. Orphanet ICD-10:D50.8 ICD-11:3A00.Y MeSH:C562385 OMIM:206200 UMLS:C0085576 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 75.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209981 IRIDA syndrome ORPHA:209981 ICD-10:D50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562385 E (Exact mapping: the two concepts are equivalent) OMIM:206200 E (Exact mapping: the two concepts are equivalent) UMLS:C0085576 E (Exact mapping: the two concepts are equivalent) Non-papillary urothelial carcinoma ICD-10:C67.0 ICD-10:C67.1 ICD-10:C67.2 ICD-10:C67.3 ICD-10:C67.4 ICD-10:C67.5 ICD-10:C67.6 ICD-10:C67.7 ICD-10:C67.8 ICD-10:C67.9 ICD-11:2C94.2 UMLS:C5679798 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 37.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209989 Non-papillary transitional cell carcinoma of the bladder ORPHA:209989 ICD-10:C67.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C94.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679798 E (Exact mapping: the two concepts are equivalent) Cyclosporosis is a parasitic disease caused by <i>Cyclospora cayetanensis</i>, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. Orphanet ICD-10:A07.3 ICD-11:1A3Y UMLS:C4274225 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210 Cyclosporiasis ORPHA:210 ICD-10:A07.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274225 E (Exact mapping: the two concepts are equivalent) Developmental delay-hypotonia-extremities hypertrophy syndrome Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients. Orphanet ICD-10:Q87.8 MeSH:C537621 OMIM:233810 UMLS:C2931551 Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2101 Grubben-de Cock-Borghgraef syndrome ORPHA:2101 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537621 E (Exact mapping: the two concepts are equivalent) OMIM:233810 E (Exact mapping: the two concepts are equivalent) UMLS:C2931551 E (Exact mapping: the two concepts are equivalent) Autosomal recessive intermediate osteopetrosis A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described. Orphanet ICD-10:Q78.2 ICD-11:LD24.10 OMIM:611497 UMLS:C0432261 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210110 Intermediate osteopetrosis ORPHA:210110 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611497 E (Exact mapping: the two concepts are equivalent) UMLS:C0432261 E (Exact mapping: the two concepts are equivalent) Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency DIRA Interleukin-1 receptor antagonist deficiency OMPP Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Orphanet ICD-10:D84.8 ICD-11:4A00.Y MeSH:C557815 OMIM:612852 UMLS:C2748507 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210115 Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C557815 E (Exact mapping: the two concepts are equivalent) OMIM:612852 E (Exact mapping: the two concepts are equivalent) UMLS:C2748507 E (Exact mapping: the two concepts are equivalent) ACDMPV Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary vessels Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. Orphanet ICD-10:Q33.6 ICD-11:CB04.0 MeSH:C536590 OMIM:265380 UMLS:C2677362 Autosomal dominant Infancy Neonatal Canada AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210122 Congenital alveolar capillary dysplasia ORPHA:210122 ICD-10:Q33.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536590 E (Exact mapping: the two concepts are equivalent) OMIM:265380 E (Exact mapping: the two concepts are equivalent) UMLS:C2677362 E (Exact mapping: the two concepts are equivalent) Encephalopathy due to urocanase deficiency A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia. Orphanet ICD-10:E70.8 ICD-11:5C50.21 MeSH:C536479 OMIM:276880 UMLS:C0268514 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210128 Urocanic aciduria ORPHA:210128 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536479 E (Exact mapping: the two concepts are equivalent) OMIM:276880 E (Exact mapping: the two concepts are equivalent) UMLS:C0268514 E (Exact mapping: the two concepts are equivalent) Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy. Orphanet ICD-10:Q82.8 UMLS:C4751169 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome ORPHA:210133 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751169 E (Exact mapping: the two concepts are equivalent) A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. Orphanet ICD-10:J84.1 ICD-11:DB99.Y UMLS:C4510085 Unknown Adult Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome ORPHA:210136 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB99.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4510085 E (Exact mapping: the two concepts are equivalent) Inherited congenital spastic quadriplegia Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. Orphanet ICD-10:G82.4 ICD-11:MB50.1 OMIM:612900 OMIM:617008 UMLS:C5190693 Autosomal recessive Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210141 Inherited congenital spastic tetraplegia ORPHA:210141 ICD-10:G82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MB50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617008 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190693 E (Exact mapping: the two concepts are equivalent) A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:612938 UMLS:C4755275 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210144 Lethal polymalformative syndrome, Boissel type ORPHA:210144 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612938 E (Exact mapping: the two concepts are equivalent) UMLS:C4755275 E (Exact mapping: the two concepts are equivalent) Adult HCC A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis. Orphanet ICD-10:C22.0 OMIM:114550 UMLS:C0279607 Not applicable Adult Elderly Europe AND has_annual_incidence_average_value : 3.22 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210159 Adult hepatocellular carcinoma ORPHA:210159 ICD-10:C22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:114550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0279607 E (Exact mapping: the two concepts are equivalent) Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. Orphanet ICD-10:G71.2 OMIM:612540 UMLS:C4750773 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210163 Congenital lethal myopathy, Compton-North type ORPHA:210163 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612540 E (Exact mapping: the two concepts are equivalent) UMLS:C4750773 E (Exact mapping: the two concepts are equivalent) GTPCH deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases. Orphanet ICD-10:E70.1 ICD-11:5C59.01 MeSH:C562656 OMIM:233910 UMLS:C0268467 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2102 GTP cyclohydrolase I deficiency Clinical subtype ORPHA:2102 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562656 E (Exact mapping: the two concepts are equivalent) OMIM:233910 E (Exact mapping: the two concepts are equivalent) UMLS:C0268467 E (Exact mapping: the two concepts are equivalent) Disembarkment syndrome MdD MdDS Sickness of disembarkment Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train. Orphanet ICD-10:H81.8 ICD-11:AB31.4 MeSH:C537840 MedDRA:10064924 UMLS:C1608983 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210272 Mal de débarquement ORPHA:210272 ICD-10:H81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:AB31.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537840 E (Exact mapping: the two concepts are equivalent) MedDRA:10064924 E (Exact mapping: the two concepts are equivalent) UMLS:C1608983 E (Exact mapping: the two concepts are equivalent) GBS Guillain-Barré-Strohl syndrome A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. Orphanet ICD-10:G61.0 ICD-11:8C01.0 MeSH:D020275 MedDRA:10018767 UMLS:C0018378 Multigenic/multifactorial All ages Denmark AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 Egypt AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.42 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.72 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 1.45 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2103 Guillain-Barré syndrome Clinical group ORPHA:2103 ICD-10:G61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020275 E (Exact mapping: the two concepts are equivalent) MedDRA:10018767 E (Exact mapping: the two concepts are equivalent) UMLS:C0018378 E (Exact mapping: the two concepts are equivalent) Guízar Vázquez-Sánchez-Manzano syndrome Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Orphanet ICD-10:Q87.8 UMLS:C4518558 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2104 Dysmorphism-pectus carinatum-joint laxity syndrome ORPHA:2104 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518558 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum. Orphanet ICD-10:Q87.8 OMIM:605309 OMIM:613926 UMLS:C5190809 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210548 Macrocephaly-intellectual disability-autism syndrome ORPHA:210548 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605309 E (Exact mapping: the two concepts are equivalent) OMIM:613926 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190809 E (Exact mapping: the two concepts are equivalent) DYT15 Myoclonus-dystonia type 15 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Myoclonus-dystonia syndrome MeSH:C538002 OMIM:607488 UMLS:C1843786 Myoclonic dystonia 15 ORPHA:210566 MeSH:C538002 E (Exact mapping: the two concepts are equivalent) OMIM:607488 E (Exact mapping: the two concepts are equivalent) UMLS:C1843786 E (Exact mapping: the two concepts are equivalent) DYT16 Early-onset dystonia parkinsonism Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Orphanet ICD-10:G24.1 ICD-11:8A02.12 MeSH:C567430 OMIM:612067 UMLS:C2677567 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210571 Dystonia 16 ORPHA:210571 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567430 E (Exact mapping: the two concepts are equivalent) OMIM:612067 E (Exact mapping: the two concepts are equivalent) UMLS:C2677567 E (Exact mapping: the two concepts are equivalent) Congenital trismus Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. Orphanet ICD-10:K07.6 UMLS:C4706319 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210576 Congenital temporomandibular joint ankylosis ORPHA:210576 ICD-10:K07.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706319 E (Exact mapping: the two concepts are equivalent) ICD-11:DA0E.8 UMLS:C1865318 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210581 Temporomandibular joint anomaly Category ORPHA:210581 ICD-11:DA0E.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1865318 E (Exact mapping: the two concepts are equivalent) Spindle cell hemangioendothelioma Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis. Orphanet ICD-10:D18.0 ICD-11:2F2Y ICD-11:XH6RP8 UMLS:C1304508 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210584 Spindle cell hemangioma ORPHA:210584 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6RP8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1304508 E (Exact mapping: the two concepts are equivalent) Infantile hemangioma of rare localization UMLS:C3839613 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=210589 Rare infantile hemangioma Clinical group ORPHA:210589 UMLS:C3839613 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital hemangioma OBSOLETE: Giant infantile hemangioma ORPHA:210592 Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. Orphanet ICD-10:Q87.8 OMIM:234250 UMLS:C0795966 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2107 Hall-Riggs syndrome ORPHA:2107 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:234250 E (Exact mapping: the two concepts are equivalent) UMLS:C0795966 E (Exact mapping: the two concepts are equivalent) François dyscephalic syndrome Oculomandibulofacial syndrome Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. Orphanet ICD-10:Q87.0 ICD-11:LD2B MeSH:D006210 OMIM:234100 UMLS:C0018522 Not applicable Unknown Infancy Neonatal Japan AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2108 Hallermann-Streiff syndrome ORPHA:2108 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006210 E (Exact mapping: the two concepts are equivalent) OMIM:234100 E (Exact mapping: the two concepts are equivalent) UMLS:C0018522 E (Exact mapping: the two concepts are equivalent) Dennis-Fairhurst-Moore syndrome Hallermann-Streiff-François syndrome, severe form Severe Hallermann-Streiff-François syndrome A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.0 MeSH:C538210 UMLS:C2931775 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2109 Hallermann-Streiff-like syndrome ORPHA:2109 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538210 E (Exact mapping: the two concepts are equivalent) UMLS:C2931775 E (Exact mapping: the two concepts are equivalent) Turban tumor syndrome ICD-10:D23.4 ICD-10:D23.5 ICD-11:2F22 MeSH:C536611 OMIM:132700 UMLS:C1851526 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211 Familial cylindromatosis Clinical subtype ORPHA:211 ICD-10:D23.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D23.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536611 E (Exact mapping: the two concepts are equivalent) OMIM:132700 E (Exact mapping: the two concepts are equivalent) UMLS:C1851526 E (Exact mapping: the two concepts are equivalent) Kleiner-Holmes syndrome Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. Orphanet ICD-10:Q74.2 MeSH:C536885 OMIM:234280 UMLS:C1856197 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2110 Hallux varus-preaxial polysyndactyly syndrome ORPHA:2110 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536885 E (Exact mapping: the two concepts are equivalent) OMIM:234280 E (Exact mapping: the two concepts are equivalent) UMLS:C1856197 E (Exact mapping: the two concepts are equivalent) 6p21.32 CELIAC1 IDDM1 ClinVar:HLA-DQB1 Ensembl:ENSG00000179344 Genatlas:HLA-DQB1 HGNC:4944 OMIM:604305 Reactome:P01920 SwissProt:P01920 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 SCA30 An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C575214 OMIM:613371 UMLS:C2936793 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211017 Spinocerebellar ataxia type 30 ORPHA:211017 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C575214 E (Exact mapping: the two concepts are equivalent) OMIM:613371 E (Exact mapping: the two concepts are equivalent) UMLS:C2936793 E (Exact mapping: the two concepts are equivalent) A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy. Orphanet UMLS:C5680856 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211037 Autosomal dominant proximal spinal muscular atrophy Clinical group ORPHA:211037 UMLS:C5680856 E (Exact mapping: the two concepts are equivalent) Specific learning difficulty Specific learning disorder UMLS:C4025790 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211047 Specific learning disability Clinical group ORPHA:211047 UMLS:C4025790 E (Exact mapping: the two concepts are equivalent) Dysphasia MeSH:D000080888 UMLS:C0454651 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211053 Specific language disorder Clinical group ORPHA:211053 MeSH:D000080888 E (Exact mapping: the two concepts are equivalent) UMLS:C0454651 E (Exact mapping: the two concepts are equivalent) Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2. Orphanet ICD-11:8A03.14 MeSH:C580065 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211062 Hereditary episodic ataxia Category ORPHA:211062 ICD-11:8A03.14 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C580065 E (Exact mapping: the two concepts are equivalent) Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours. Orphanet ICD-10:G11.8 ICD-11:8A03.14 MeSH:C566601 OMIM:613855 UMLS:C1866039 Autosomal dominant All ages Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211067 Episodic ataxia type 5 ORPHA:211067 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566601 E (Exact mapping: the two concepts are equivalent) OMIM:613855 E (Exact mapping: the two concepts are equivalent) UMLS:C1866039 E (Exact mapping: the two concepts are equivalent) Graham-Boyle-Troxell syndrome Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q85.8 ICD-11:2F00.Y MeSH:C537292 UMLS:C2931468 Unknown Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2111 Cystic hamartoma of lung and kidney ORPHA:2111 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537292 E (Exact mapping: the two concepts are equivalent) UMLS:C2931468 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare pulmonary disease OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome ORPHA:2112 UMLS:C5680855 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211237 Rare vascular tumor Category ORPHA:211237 UMLS:C5680855 E (Exact mapping: the two concepts are equivalent) UMLS:C5680854 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211240 Genetic vascular anomaly Category ORPHA:211240 UMLS:C5680854 E (Exact mapping: the two concepts are equivalent) UMLS:C5680861 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211243 Simple vascular malformation Category ORPHA:211243 UMLS:C5680861 E (Exact mapping: the two concepts are equivalent) UMLS:C5680860 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211247 Rare capillary malformation Category ORPHA:211247 UMLS:C5680860 E (Exact mapping: the two concepts are equivalent) MedDRA:10025532 UMLS:C5680859 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211252 Rare venous malformation Category ORPHA:211252 MedDRA:10025532 E (Exact mapping: the two concepts are equivalent) UMLS:C5680859 E (Exact mapping: the two concepts are equivalent) UMLS:C5680858 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211255 Rare lymphatic system anomaly Category ORPHA:211255 UMLS:C5680858 E (Exact mapping: the two concepts are equivalent) MeSH:D001165 MedDRA:10003193 UMLS:C5680857 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211266 Rare arteriovenous malformation Category ORPHA:211266 MeSH:D001165 E (Exact mapping: the two concepts are equivalent) MedDRA:10003193 E (Exact mapping: the two concepts are equivalent) UMLS:C5680857 E (Exact mapping: the two concepts are equivalent) Hemangiolymphangioma UMLS:C5679799 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=211277 Complex vascular malformation with associated anomalies Category ORPHA:211277 UMLS:C5679799 E (Exact mapping: the two concepts are equivalent) CHHS This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pallister-Hall syndrome Congenital hypothalamic hamartoma syndrome ORPHA:2113 BFHD Beukes familial hip dysplasia Cilliers-Beighton syndrome Premature degenerative osteoarthropathy of the hip A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. Orphanet ICD-10:Q65.8 ICD-11:LD24.6Y MeSH:C564185 OMIM:142669 UMLS:C1840572 Autosomal dominant Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2114 Hip dysplasia, Beukes type ORPHA:2114 ICD-10:Q65.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564185 E (Exact mapping: the two concepts are equivalent) OMIM:142669 E (Exact mapping: the two concepts are equivalent) UMLS:C1840572 E (Exact mapping: the two concepts are equivalent) Cranio-facio-digito-genital syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Orphanet ICD-10:Q87.8 MeSH:C535635 OMIM:601095 UMLS:C0795970 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2115 Harrod syndrome ORPHA:2115 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535635 E (Exact mapping: the two concepts are equivalent) OMIM:601095 E (Exact mapping: the two concepts are equivalent) UMLS:C0795970 E (Exact mapping: the two concepts are equivalent) Aminoaciduria, Hartnup type Hartnup disorder A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). Orphanet ICD-10:E72.0 ICD-11:5C60.Y MeSH:D006250 MedDRA:10019165 OMIM:234500 UMLS:C0018609 Autosomal recessive All ages Australia AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 3.85 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2116 Hartnup disease ORPHA:2116 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006250 E (Exact mapping: the two concepts are equivalent) MedDRA:10019165 E (Exact mapping: the two concepts are equivalent) OMIM:234500 E (Exact mapping: the two concepts are equivalent) UMLS:C0018609 E (Exact mapping: the two concepts are equivalent) Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Orphanet ICD-10:Q87.8 MeSH:C564484 OMIM:615465 UMLS:C1845146 Autosomal dominant Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2117 Hartsfield syndrome ORPHA:2117 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564484 E (Exact mapping: the two concepts are equivalent) OMIM:615465 E (Exact mapping: the two concepts are equivalent) UMLS:C1845146 E (Exact mapping: the two concepts are equivalent) 4-HPPD deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. Orphanet ICD-10:E70.2 ICD-11:5C50.1Y MeSH:C535845 OMIM:140350 UMLS:C2931042 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2118 Hawkinsinuria ORPHA:2118 ICD-10:E70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535845 E (Exact mapping: the two concepts are equivalent) OMIM:140350 E (Exact mapping: the two concepts are equivalent) UMLS:C2931042 E (Exact mapping: the two concepts are equivalent) Hydrocephalus-endocardial fibroelastosis-cataract syndrome A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.8 MeSH:C535855 OMIM:600559 UMLS:C1833607 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2119 HEC syndrome ORPHA:2119 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535855 E (Exact mapping: the two concepts are equivalent) OMIM:600559 E (Exact mapping: the two concepts are equivalent) UMLS:C1833607 E (Exact mapping: the two concepts are equivalent) Cystathionase deficiency Cystathionine gamma-lyase deficiency syndrome Gamma-cystathionase deficiency A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. Orphanet ICD-10:E72.1 ICD-11:5C50.B MeSH:C535408 OMIM:219500 UMLS:C0220993 Autosomal recessive All ages Canada AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=212 Cystathioninuria ORPHA:212 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535408 E (Exact mapping: the two concepts are equivalent) OMIM:219500 E (Exact mapping: the two concepts are equivalent) UMLS:C0220993 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare ophthalmic disorder OBSOLETE: Heckenlively syndrome ORPHA:2120 A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients. Orphanet ICD-10:C49.9 ICD-11:2F72.Y ICD-11:XH6PA4 MeSH:C537007 UMLS:C1367420 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2122 Kaposiform hemangioendothelioma ORPHA:2122 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6PA4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537007 E (Exact mapping: the two concepts are equivalent) UMLS:C1367420 E (Exact mapping: the two concepts are equivalent) Diffuse neonatal hemangiomatosis Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. Orphanet ICD-10:Q82.8 ICD-11:2E81.2Y UMLS:C0474965 Not applicable Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2123 Multifocal infantile hemangioma with extracutenous involvement ORPHA:2123 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2E81.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0474965 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PHACE syndrome UMLS:C0472694 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome ORPHA:2124 UMLS:C0472694 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to LUMBAR syndrome UMLS:C2931443 Sacral hemangiomas-multiple congenital abnormalities syndrome ORPHA:2125 UMLS:C2931443 E (Exact mapping: the two concepts are equivalent) 20p13 ADCA PENKB beta-neoendorphin dynorphin leu-enkephalin leumorphin neoendorphin-dynorphin-enkephalin prepropeptide preproenkephalin B rimorphin ClinVar:PDYN Ensembl:ENSG00000101327 Genatlas:PDYN HGNC:8820 OMIM:131340 Reactome:P01213 SwissProt:P01213 PDYN prodynorphin SFT A rare soft tissue tumor characterized by a well-circumscribed mass potentially occurring at any anatomical site, histopathologically showing spindled to ovoid cells arranged around a branching and hyalinized vasculature and variable stromal collagen deposition. Immunohistochemistry reveals CD34 and/or STAT6 expression. <i>NAB2-STAT6</i> gene fusions are pathognomonic for this tumor, which may be malignant or benign. Clinically, most patients present with a slow-growing, painless mass. Large tumors may cause paraneoplastic syndromes such as Doege-Potter syndrome, with the induction of severe hypoglycemia or acromegaloid features. Orphanet ICD-10:D21.9 MeSH:D006393 MedDRA:10018825 OMIM:234820 UMLS:C5679827 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2126 Solitary fibrous tumor ORPHA:2126 ICD-10:D21.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D006393 E (Exact mapping: the two concepts are equivalent) MedDRA:10018825 E (Exact mapping: the two concepts are equivalent) OMIM:234820 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679827 E (Exact mapping: the two concepts are equivalent) 18p11.21 SPAX5 ClinVar:AFG3L2 Ensembl:ENSG00000141385 Genatlas:AFG3L2 HGNC:315 OMIM:604581 Reactome:Q9Y4W6 SwissProt:Q9Y4W6 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 11q12 HGNC:17204 SCA20 spinocerebellar ataxia 20 2p21-p15 HGNC:20684 SCA25 spinocerebellar ataxia 25 4q34.3-q35.1 HGNC:33445 SCA30 spinocerebellar ataxia 30 Hemi 3 syndrome Hemicorporal hypertrophy Isolated hemihypertrophy Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C565524 MedDRA:10019463 OMIM:235000 UMLS:C1856184 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2128 Isolated hemihyperplasia ORPHA:2128 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565524 E (Exact mapping: the two concepts are equivalent) MedDRA:10019463 E (Exact mapping: the two concepts are equivalent) OMIM:235000 E (Exact mapping: the two concepts are equivalent) UMLS:C1856184 E (Exact mapping: the two concepts are equivalent) 12q12 F3 GP135 glycoprotein gP135 ClinVar:CNTN1 Ensembl:ENSG00000018236 Genatlas:CNTN1 HGNC:2171 OMIM:600016 Reactome:Q12860 SwissProt:Q12860 CNTN1 contactin 1 8q12.1 cholesterol 7 alpha-monooxygenase cholesterol 7a-hydroxylase ClinVar:CYP7A1 Ensembl:ENSG00000167910 Genatlas:CYP7A1 HGNC:2651 IUPHAR:1354 OMIM:118455 Reactome:P22680 SwissProt:P22680 CYP7A1 cytochrome P450 family 7 subfamily A member 1 7q31.1 CAG repeat protein 44 CAGH44 forkhead/winged-helix transcription factor speech and language disorder 1 trinucleotide repeat containing 10 ClinVar:FOXP2 Ensembl:ENSG00000128573 Genatlas:FOXP2 HGNC:13875 OMIM:605317 Reactome:O15409 SwissProt:O15409 FOXP2 forkhead box P2 5p13.2 EA6 EAAT1 GLAST GLAST-1 GLAST1 excitatory amino acid transporter 1 glutamate/aspartate transporter 1 ClinVar:SLC1A3 Ensembl:ENSG00000079215 Genatlas:SLC1A3 HGNC:10941 IUPHAR:868 OMIM:600111 Reactome:P43003 SwissProt:P43003 SLC1A3 solute carrier family 1 member 3 17q21.31 KIAA0356 ClinVar:PLEKHM1 Ensembl:ENSG00000225190 Genatlas:PLEKHM1 HGNC:29017 OMIM:611466 SwissProt:Q9Y4G2 PLEKHM1 pleckstrin homology and RUN domain containing M1 OBSOLETE: HIPO syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome ORPHA:2129 2q14.1 ICIL-1RA IL-1RN IL1F3 IL1RA IRAP MGC10430 interleukin-1 receptor antagonist protein intracellular interleukin-1 receptor antagonist ClinVar:IL1RN Ensembl:ENSG00000136689 Genatlas:IL1RN HGNC:6000 OMIM:147679 Reactome:P18510 SwissProt:P18510 IL1RN interleukin 1 receptor antagonist 16q24.1 FREAC1 ClinVar:FOXF1 Ensembl:ENSG00000103241 Genatlas:FOXF1 HGNC:3809 OMIM:601089 SwissProt:Q12946 FOXF1 forkhead box F1 3q21.3 FLJ31300 HMFN0320 urocanase 1 ClinVar:UROC1 Ensembl:ENSG00000159650 Genatlas:UROC1 HGNC:26444 OMIM:613012 Reactome:Q96N76 SwissProt:Q96N76 UROC1 urocanate hydratase 1 7q22.1 AP-4 adapter complex mu subunit MU-4 MU-ARP2 SPG50 adaptor-related protein complex AP-4 mu4 subunit mu subunit of AP-4 mu-adaptin-related protein-2 ClinVar:AP4M1 Ensembl:ENSG00000221838 Genatlas:AP4M1 HGNC:574 OMIM:602296 Reactome:O00189 SwissProt:O00189 AP4M1 adaptor related protein complex 4 subunit mu 1 16q12.2 ALKBH9 AlkB homolog 9 IFEX9 KIAA1752 MGC5149 alkB homolog 9 alpha-ketoglutarate-dependent dioxygenase intragenic FTO exon 9 containing transcript ClinVar:FTO Ensembl:ENSG00000140718 Genatlas:FTO HGNC:24678 OMIM:610966 Reactome:Q9C0B1 SwissProt:Q9C0B1 FTO FTO alpha-ketoglutarate dependent dioxygenase Protein defect of cystin transport A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. Orphanet ICD-10:E72.0 ICD-11:5C60.1 MeSH:D003554 MedDRA:10011777 OMIM:219800 OMIM:219900 UMLS:C4316899 Autosomal recessive Adolescent Adult Childhood Infancy Australia AND has_birth_prevalence_average_value : 0.52 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.87 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.59 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213 Cystinosis ORPHA:213 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003554 E (Exact mapping: the two concepts are equivalent) MedDRA:10011777 E (Exact mapping: the two concepts are equivalent) OMIM:219800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:219900 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4316899 E (Exact mapping: the two concepts are equivalent) Non-syndromic longitudinal meromelia Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity. Orphanet MedDRA:10019464 UMLS:C0018987 Not applicable Neonatal Europe AND has_point_prevalence_average_value : 4.15 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2130 Non-syndromic hemimelia Clinical group ORPHA:2130 MedDRA:10019464 E (Exact mapping: the two concepts are equivalent) UMLS:C0018987 E (Exact mapping: the two concepts are equivalent) 2q31.2 DYT16 HSD14 PACT PKR-associated protein X RAX protein activator of the interferon-induced protein kinase ClinVar:PRKRA Ensembl:ENSG00000180228 Genatlas:PRKRA HGNC:9438 OMIM:603424 Reactome:O75569 SwissProt:O75569 PRKRA protein activator of interferon induced protein kinase EIF2AK2 AHC A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep. Orphanet ICD-10:G98 ICD-11:MB53.0 MeSH:C536589 MedDRA:10077948 OMIM:104290 OMIM:614820 UMLS:C0338488 Autosomal dominant Not applicable Infancy Neonatal Denmark AND has_birth_prevalence_average_value : 0.94 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2131 Alternating hemiplegia of childhood ORPHA:2131 ICD-10:G98 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MB53.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536589 E (Exact mapping: the two concepts are equivalent) MedDRA:10077948 E (Exact mapping: the two concepts are equivalent) OMIM:104290 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614820 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0338488 E (Exact mapping: the two concepts are equivalent) Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). Orphanet ICD-10:D58.2 ICD-11:3A51.5 MeSH:D006445 MedDRA:10018883 UMLS:C0019021 Autosomal recessive All ages Belgium AND has_birth_prevalence_average_value : 3.65 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 166.66 AND has_point_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2132 Hemoglobin C disease ORPHA:2132 ICD-10:D58.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A51.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006445 E (Exact mapping: the two concepts are equivalent) MedDRA:10018883 E (Exact mapping: the two concepts are equivalent) UMLS:C0019021 E (Exact mapping: the two concepts are equivalent) Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. Orphanet ICD-10:D58.2 ICD-11:3A51.A MedDRA:10053215 UMLS:C0238159 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2133 Hemoglobin E disease ORPHA:2133 ICD-10:D58.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A51.A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10053215 E (Exact mapping: the two concepts are equivalent) UMLS:C0238159 E (Exact mapping: the two concepts are equivalent) Atypical HUS aHUS A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction. Orphanet ICD-10:D59.3 ICD-11:3A10.Y MeSH:D065766 MedDRA:10079840 OMIM:235400 OMIM:609814 OMIM:612922 OMIM:612923 OMIM:612924 OMIM:612925 OMIM:612926 OMIM:615008 UMLS:C2931788 Autosomal dominant Autosomal recessive Not applicable All ages China AND has_point_prevalence_average_value : 0.0278 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2134 Atypical hemolytic uremic syndrome ORPHA:2134 ICD-10:D59.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D065766 E (Exact mapping: the two concepts are equivalent) MedDRA:10079840 E (Exact mapping: the two concepts are equivalent) OMIM:235400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609814 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612922 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612923 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612924 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612925 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612926 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615008 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931788 E (Exact mapping: the two concepts are equivalent) Cutaneous mastocytosis-hearing loss-microtia syndrome Mastocytosis-short stature-deafness syndrome Mastocytosis-short stature-hearing loss syndrome A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Orphanet ICD-10:Q82.2 OMIM:248910 UMLS:C4302582 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2135 Cutaneous mastocytosis-deafness-microtia syndrome ORPHA:2135 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:248910 E (Exact mapping: the two concepts are equivalent) UMLS:C4302582 E (Exact mapping: the two concepts are equivalent) Ovarian malignant tumor ICD-11:2C73 MeSH:D010051 MedDRA:10033128 UMLS:C1140680 Europe AND has_point_prevalence_average_value : 49.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213500 Ovarian cancer Category ORPHA:213500 ICD-11:2C73 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010051 E (Exact mapping: the two concepts are equivalent) MedDRA:10033128 E (Exact mapping: the two concepts are equivalent) UMLS:C1140680 E (Exact mapping: the two concepts are equivalent) Ovarian adenocarcinoma ICD-10:C56 MedDRA:10051938 UMLS:C0948216 Not applicable Adult Austria AND has_annual_incidence_average_value : 5.635 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 6.773 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 6.162 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 6.103 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 7.229 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 6.881 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 5.97 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 5.973 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 6.593 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 4.09 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 5.079 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 5.518 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 8.353 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 7.79 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 5.653 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 5.306 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 7.116 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 5.698 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 2.834 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 5.519 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 6.575 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 4.263 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 6.379 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 6.09 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213504 Adenocarcinoma of ovary ORPHA:213504 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10051938 E (Exact mapping: the two concepts are equivalent) UMLS:C0948216 E (Exact mapping: the two concepts are equivalent) MMMT of the ovary Ovarian carcinosarcoma Ovarian malignant mixed Müllerian tumor Ovarian malignant mixed epithelial mesenchymal tumor Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis. Orphanet ICD-10:C56 UMLS:C0392998 Adult Europe AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213512 Malignant mixed Müllerian tumor of the ovary ORPHA:213512 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0392998 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Familial ovarian malignant tumor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Malignant non-epithelial tumor of ovary OBSOLETE: Familial ovarian cancer ORPHA:213517 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary breast and ovarian cancer syndrome UMLS:C4749652 Hereditary site-specific ovarian cancer syndrome ORPHA:213524 UMLS:C4749652 E (Exact mapping: the two concepts are equivalent) A rare malignant breast tumor disease encompassing special rare types of adenocarcinoma of the breast, i.e. tubular adenocarcinoma, mucinous carcinoma, medullary carcinoma NOS, papillary adenocarcinoma NOS, cribriform carcinoma, apocrine adenocarcinoma, secretory carcinoma, glycogen-rich clear cell carcinoma, lipid-rich carcinoma, and oncocytic carcinoma. Orphanet ICD-10:C50.0 ICD-10:C50.1 ICD-10:C50.2 ICD-10:C50.3 ICD-10:C50.4 ICD-10:C50.5 ICD-10:C50.6 ICD-10:C50.8 UMLS:C5680864 Adult Austria AND has_annual_incidence_average_value : 2.325 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 2.221 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 2.397 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 2.175 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 2.717 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 3.371 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 3.55 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 2.615 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 3.812 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 2.428 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 2.305 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 4.103 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 1.191 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 0.898 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 2.199 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 3.264 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 3.017 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 1.812 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 1.697 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 2.171 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 2.315 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 2.142 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 3.187 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 3.638 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213528 Rare adenocarcinoma of the breast ORPHA:213528 ICD-10:C50.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680864 E (Exact mapping: the two concepts are equivalent) Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration. Orphanet ICD-10:C50.0 ICD-10:C50.1 ICD-10:C50.2 ICD-10:C50.3 ICD-10:C50.4 ICD-10:C50.5 ICD-10:C50.6 ICD-10:C50.8 ICD-11:2C6Y MedDRA:10073100 UMLS:C1334708 Adult Austria AND has_annual_incidence_average_value : 0.081 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.226 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.059 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.136 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.096 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.108 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.238 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.082 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.163 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213531 Metaplastic carcinoma of the breast ORPHA:213531 ICD-10:C50.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073100 E (Exact mapping: the two concepts are equivalent) UMLS:C1334708 E (Exact mapping: the two concepts are equivalent) Salivary gland type carcinoma of the breast Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma. Orphanet ICD-10:C50.0 ICD-10:C50.1 ICD-10:C50.2 ICD-10:C50.3 ICD-10:C50.4 ICD-10:C50.5 ICD-10:C50.6 ICD-10:C50.8 ICD-11:2C60 UMLS:C4274421 Adult Austria AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.095 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.323 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.064 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.054 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213557 Salivary gland type cancer of the breast ORPHA:213557 ICD-10:C50.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274421 E (Exact mapping: the two concepts are equivalent) Rare cancer of uterus Rare malignant tumor of uterus Rare uterine malignant tumor UMLS:C5679800 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213564 Rare uterine cancer Category ORPHA:213564 UMLS:C5679800 E (Exact mapping: the two concepts are equivalent) Rare malignant tumor of corpus uteri UMLS:C5679801 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213569 Rare cancer of corpus uteri Category ORPHA:213569 UMLS:C5679801 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cancer of corpus uteri OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri ORPHA:213574 Mixed epithelial and mesenchymal cancer of corpus uteri ICD-11:2B5D.1 UMLS:C5679803 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Clinical group ORPHA:213589 ICD-11:2B5D.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679803 E (Exact mapping: the two concepts are equivalent) Lymphedema-lymphangiectasia-intellectual disability syndrome A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics. Orphanet ICD-10:Q87.8 ICD-11:BD93.0 MeSH:C537255 OMIM:235510 OMIM:616006 OMIM:618154 UMLS:C0340834 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2136 Hennekam syndrome ORPHA:2136 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537255 E (Exact mapping: the two concepts are equivalent) OMIM:235510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616006 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618154 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0340834 E (Exact mapping: the two concepts are equivalent) A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported. Orphanet ICD-10:C54.2 ICD-11:2B5D.1 UMLS:C4707554 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213600 Adenosarcoma of the corpus uteri ORPHA:213600 ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B5D.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707554 E (Exact mapping: the two concepts are equivalent) Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain. Orphanet ICD-10:C54.0 ICD-10:C54.1 ICD-10:C54.2 ICD-10:C54.3 ICD-10:C54.8 ICD-11:2B5D.1 UMLS:C4755313 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213605 Carcinofibroma of the corpus uteri ORPHA:213605 ICD-10:C54.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B5D.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4755313 E (Exact mapping: the two concepts are equivalent) Malignant mixed Müllerian tumor of the corpus uteri Mixed Müllerian cancer of corpus uteri Uterine carcinosarcoma Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported. Orphanet ICD-10:C54.9 ICD-11:2C76.43 UMLS:C1704376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213610 Carcinosarcoma of the corpus uteri ORPHA:213610 ICD-10:C54.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C76.43 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1704376 E (Exact mapping: the two concepts are equivalent) Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported. Orphanet ICD-10:C54.2 ICD-11:2B55.Y UMLS:C4706451 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213615 Rhabdomyosarcoma of the corpus uteri ORPHA:213615 ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B55.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706451 E (Exact mapping: the two concepts are equivalent) ICD-10:C54.2 MedDRA:10039497 UMLS:C0338113 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213620 Sarcoma of the corpus uteri Clinical group ORPHA:213620 ICD-10:C54.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10039497 E (Exact mapping: the two concepts are equivalent) UMLS:C0338113 E (Exact mapping: the two concepts are equivalent) Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated. Orphanet ICD-10:C54.2 ICD-11:2B58.1 MedDRA:10046799 UMLS:C0280631 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213625 Leiomyosarcoma of the corpus uteri ORPHA:213625 ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B58.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10046799 E (Exact mapping: the two concepts are equivalent) UMLS:C0280631 E (Exact mapping: the two concepts are equivalent) Malignant peripheral neuroectodermal tumor of the corpus uteri Peripheral neuroectodermal cancer of the corpus uteri Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement. Orphanet ICD-10:C54.0 ICD-10:C54.1 ICD-10:C54.2 ICD-10:C54.3 ICD-10:C54.8 ICD-11:2B5F.0 UMLS:C4707724 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213630 Primitive neuroectodermal tumor of the corpus uteri ORPHA:213630 ICD-10:C54.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B5F.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707724 E (Exact mapping: the two concepts are equivalent) AIH A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed. Orphanet ICD-10:K75.4 ICD-11:DB96.0 MedDRA:10003827 UMLS:C4721555 Not applicable Adolescent Adult Childhood Elderly Denmark AND has_annual_incidence_average_value : 1.68 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 23.9 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 0.75 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Israel AND has_annual_incidence_average_value : 0.67 AND has_annual_incidence_range : 1-9 / 1 000 000 Israel AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 New Zealand AND has_point_prevalence_average_value : 24.5 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 16.9 AND has_point_prevalence_range : 1-5 / 10 000 Singapore AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.95 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 11.6 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 42.9 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 10.7 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 23.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2137 Autoimmune hepatitis ORPHA:2137 ICD-10:K75.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB96.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10003827 E (Exact mapping: the two concepts are equivalent) UMLS:C4721555 E (Exact mapping: the two concepts are equivalent) Stromal sarcoma of the corpus uteri ICD-10:C54.1 ICD-11:2B5C ICD-11:XH1S94 ICD-11:XH1TK5 ICD-11:XH2CV3 MeSH:D018203 MedDRA:10057649 UMLS:C0206630 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213711 Endometrial stromal sarcoma ORPHA:213711 ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B5C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH1S94 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH1TK5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH2CV3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018203 E (Exact mapping: the two concepts are equivalent) MedDRA:10057649 E (Exact mapping: the two concepts are equivalent) UMLS:C0206630 E (Exact mapping: the two concepts are equivalent) Endometrial squamous cell carcinoma Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra. Orphanet ICD-10:C54.1 ICD-11:2C76.Y UMLS:C4707099 Adult Austria AND has_annual_incidence_average_value : 0.117 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.177 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.139 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.083 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.113 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.173 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.228 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.106 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213716 Squamous cell carcinoma of the corpus uteri ORPHA:213716 ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C76.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707099 E (Exact mapping: the two concepts are equivalent) Endometrial undifferentiated carcinoma Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported. Orphanet ICD-10:C54 ICD-10:C54.0 ICD-10:C54.1 ICD-10:C54.2 ICD-10:C54.3 ICD-10:C54.8 ICD-11:2C76.Y UMLS:C4707822 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213721 Undifferentiated carcinoma of the corpus uteri ORPHA:213721 ICD-10:C54 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C54.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C54.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C54.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C76.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707822 E (Exact mapping: the two concepts are equivalent) Endometrial serous carcinoma A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. Patients with extrauterine spread have poor outcomes, while endometrium-limited carcinoma has a better prognosis. Orphanet ICD-10:C54.1 UMLS:C5679804 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213726 Serous carcinoma of the corpus uteri ORPHA:213726 ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679804 E (Exact mapping: the two concepts are equivalent) High-grade neuroendocrine carcinoma of the uterine corpus Poorly differentiated neuroendocrine carcinoma of the corpus uteri Poorly differentiated neuroendocrine carcinoma of the endometrium High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. Orphanet ICD-10:C54.0 ICD-10:C54.1 ICD-10:C54.2 ICD-10:C54.3 ICD-10:C54.8 UMLS:C4751234 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213731 High-grade neuroendocrine carcinoma of the corpus uteri ORPHA:213731 ICD-10:C54.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751234 E (Exact mapping: the two concepts are equivalent) Low-grade neuroendocrine tumor of the uterine corpus Well-differentiated neuroendocrine neoplasm of the endometrium Well-differentiated neuroendocrine tumor of the corpus uteri Well-differentiated neuroendocrine tumor of the endometrium Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop. Orphanet ICD-10:C54.0 ICD-10:C54.1 ICD-10:C54.2 ICD-10:C54.3 ICD-10:C54.8 UMLS:C5190779 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213736 Low-grade neuroendocrine tumor of the corpus uteri ORPHA:213736 ICD-10:C54.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190779 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Endometrial adenoid cystic carcinoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Adenoid cystic carcinoma of the cervix uteri OBSOLETE: Adenoid cystic carcinoma of the corpus uteri ORPHA:213741 Endometrial transitional cell carcinoma A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding. Orphanet ICD-10:C54.9 ICD-11:2C76.Y UMLS:C5191668 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213746 Transitional cell carcinoma of the corpus uteri ORPHA:213746 ICD-10:C54.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C76.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5191668 E (Exact mapping: the two concepts are equivalent) Germ cell cancer of the corpus uteri Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common. Orphanet ICD-10:C54.0 ICD-10:C54.1 ICD-10:C54.2 ICD-10:C54.3 ICD-10:C54.8 ICD-11:2C76.Y UMLS:C4750753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213751 Malignant germ cell tumor of the corpus uteri ORPHA:213751 ICD-10:C54.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C54.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C76.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4750753 E (Exact mapping: the two concepts are equivalent) Rare cervical cancer Rare cervical malignant tumor Rare malignant tumor of cervix uteri UMLS:C5679805 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213761 Rare cancer of cervix uteri Category ORPHA:213761 UMLS:C5679805 E (Exact mapping: the two concepts are equivalent) Cervical squamous cell carcinoma ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.0 MedDRA:10041848 UMLS:C0279671 Adult Austria AND has_annual_incidence_average_value : 4.104 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 4.67 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 11.822 AND has_annual_incidence_range : 1-5 / 10 000 Croatia AND has_annual_incidence_average_value : 5.539 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 8.277 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 10.336 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 4.28 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 1.885 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 4.871 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 3.707 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 4.204 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 3.307 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 7.362 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 11.192 AND has_annual_incidence_range : 1-5 / 10 000 Malta AND has_annual_incidence_average_value : 1.759 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 3.063 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 4.756 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 7.941 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 5.478 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 8.555 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 7.507 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 2.867 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 2.657 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 3.312 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213767 Squamous cell carcinoma of the cervix uteri ORPHA:213767 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10041848 E (Exact mapping: the two concepts are equivalent) UMLS:C0279671 E (Exact mapping: the two concepts are equivalent) Cervical adenocarcinoma ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.1 MedDRA:10001197 UMLS:C0279672 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.762 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.966 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 1.108 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 0.968 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 1.108 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 1.01 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.899 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.987 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 1.065 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 0.789 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.734 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.774 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 1.118 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 0.471 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.765 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 1.177 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.766 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 1.007 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 1.048 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 1.12 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.868 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.738 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.918 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213772 Adenocarcinoma of the cervix uteri ORPHA:213772 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10001197 E (Exact mapping: the two concepts are equivalent) UMLS:C0279672 E (Exact mapping: the two concepts are equivalent) High-grade neuroendocrine carcinoma of the uterine cervix Poorly differentiated neuroendocrine carcinoma of the cervix uteri Poorly differentiated neuroendocrine cervical carcinoma High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.3 UMLS:C4751235 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213777 High-grade neuroendocrine carcinoma of the cervix uteri ORPHA:213777 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751235 E (Exact mapping: the two concepts are equivalent) Cervical malignant mixed epithelial and mesenchymal tumor Mixed epithelial and mesenchymal cancer of cervix uteri UMLS:C5679806 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri Clinical group ORPHA:213782 UMLS:C5679806 E (Exact mapping: the two concepts are equivalent) Cervical carcinosarcoma Cervical malignant Müllerian mixed tumor Malignant Müllerian mixed tumor of the cervix uteri Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported. Orphanet ICD-10:C53 ICD-11:2C77.Y UMLS:C1332917 Adult Elderly Worldwide AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213787 Carcinosarcoma of the cervix uteri ORPHA:213787 ICD-10:C53 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1332917 E (Exact mapping: the two concepts are equivalent) Cervical adenosarcoma A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.Y UMLS:C1516426 Adolescent Adult Elderly Worldwide AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213792 Adenosarcoma of the cervix uteri ORPHA:213792 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1516426 E (Exact mapping: the two concepts are equivalent) Cervical malignant mesenchymal tumor Cervical sarcoma Malignant mesenchymal tumor of cervix uteri UMLS:C5679807 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213797 Sarcoma of cervix uteri Clinical group ORPHA:213797 UMLS:C5679807 E (Exact mapping: the two concepts are equivalent) 46,XX ovotesticular DSD 46,XX ovotesticular disorder of sex development A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. Orphanet ICD-10:Q56.0 ICD-11:LD2A.0 MeSH:D050090 OMIM:400045 UMLS:C5679613 Autosomal dominant Autosomal recessive Adolescent Antenatal Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 500.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2138 46,XX ovotesticular difference of sex development ORPHA:2138 ICD-10:Q56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D050090 E (Exact mapping: the two concepts are equivalent) OMIM:400045 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679613 E (Exact mapping: the two concepts are equivalent) Cervical rhabdomyosarcoma Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2B55.Y UMLS:C4289809 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213802 Rhabdomyosarcoma of the cervix uteri ORPHA:213802 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B55.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4289809 E (Exact mapping: the two concepts are equivalent) Cervical leiomyosarcoma Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2B58.1 UMLS:C4289817 Adult Elderly Worldwide AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213807 Leiomyosarcoma of the cervix uteri ORPHA:213807 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B58.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4289817 E (Exact mapping: the two concepts are equivalent) Cervical malignant peripheral neuroectodermal tumor Cervical peripheral neuroectodermal cancer Malignant peripheral neuroectodermal tumor of the cervix uteri Peripheral neuroectodermal cancer of cervix uteri Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2B52.3 UMLS:C4707725 Adult Worldwide AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213812 Primitive neuroectodermal tumor of the cervix uteri ORPHA:213812 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B52.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707725 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Cervical papillary carcinoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Squamous cell carcinoma of the cervix uteri OBSOLETE: Papillary carcinoma of the cervix uteri ORPHA:213817 Cervical adenoid cystic carcinoma A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.1 UMLS:C1332911 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213823 Adenoid cystic carcinoma of the cervix uteri ORPHA:213823 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1332911 E (Exact mapping: the two concepts are equivalent) Cervical adenoid basal carcinoma A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.1 UMLS:C1516403 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213828 Adenoid basal carcinoma of the cervix uteri ORPHA:213828 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1516403 E (Exact mapping: the two concepts are equivalent) Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32). Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.Y UMLS:C4707881 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213833 Glassy cell carcinoma of the cervix uteri ORPHA:213833 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707881 E (Exact mapping: the two concepts are equivalent) Cervical germ cell cancer Cervical malignant germ cell tumor Germ cell cancer of the cervix uteri Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported. Orphanet ICD-10:C53.0 ICD-10:C53.1 ICD-10:C53.8 ICD-11:2C77.Y UMLS:C4750752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=213837 Malignant germ cell tumor of the cervix uteri ORPHA:213837 ICD-10:C53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C77.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4750752 E (Exact mapping: the two concepts are equivalent) Intellectual disability-epilepsy-bulbous nose syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. Orphanet ICD-10:Q87.8 MeSH:C538112 UMLS:C2931736 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2139 Hernández-Aguirre Negrete syndrome ORPHA:2139 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538112 E (Exact mapping: the two concepts are equivalent) UMLS:C2931736 E (Exact mapping: the two concepts are equivalent) Cystinuria-lysinuria syndrome A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones. Orphanet ICD-10:E72.0 ICD-11:5C60.2 MeSH:D003555 MedDRA:10011778 OMIM:220100 UMLS:C0010691 Autosomal recessive Semi-dominant All ages Australia AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 Canada AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=214 Cystinuria ORPHA:214 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C60.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003555 E (Exact mapping: the two concepts are equivalent) MedDRA:10011778 E (Exact mapping: the two concepts are equivalent) OMIM:220100 E (Exact mapping: the two concepts are equivalent) UMLS:C0010691 E (Exact mapping: the two concepts are equivalent) CDH A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension. Orphanet ICD-10:Q79.0 ICD-11:LB00.0 MeSH:D065630 MedDRA:10010439 OMIM:142340 OMIM:222400 OMIM:306950 OMIM:610187 UMLS:C0235833 Multigenic/multifactorial Not applicable Neonatal Austria AND has_birth_prevalence_average_value : 39.3 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 19.8 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 21.2 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 23.6 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 23.2 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 21.7 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 22.6 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 49.8 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 29.2 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 22.9 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 9.4 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 38.9 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 19.7 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 30.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2140 Congenital diaphragmatic hernia ORPHA:2140 ICD-10:Q79.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065630 E (Exact mapping: the two concepts are equivalent) MedDRA:10010439 E (Exact mapping: the two concepts are equivalent) OMIM:142340 E (Exact mapping: the two concepts are equivalent) OMIM:222400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:306950 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610187 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0235833 E (Exact mapping: the two concepts are equivalent) Froster-Huch syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinicial features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. Orphanet ICD-10:Q87.8 OMIM:601163 UMLS:C4303589 Unknown Antenatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2141 Diaphragmatic defect-limb deficiency-skull defect syndrome ORPHA:2141 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601163 E (Exact mapping: the two concepts are equivalent) UMLS:C4303589 E (Exact mapping: the two concepts are equivalent) DBS/FOAR syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome FOAR syndrome Facio-oculo-acoustico-renal syndrome Holmes-Schepens syndrome Syndrome of ocular and facial anomalies, telecanthus and deafness Syndrome of ocular and facial anomalies, telecanthus and hearing loss A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536390 OMIM:222448 UMLS:C1857277 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2143 Donnai-Barrow syndrome ORPHA:2143 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536390 E (Exact mapping: the two concepts are equivalent) OMIM:222448 E (Exact mapping: the two concepts are equivalent) UMLS:C1857277 E (Exact mapping: the two concepts are equivalent) Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q75.0 ICD-11:LD24.GY UMLS:C4706536 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2145 Craniosynostosis, Herrmann-Opitz type ORPHA:2145 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706536 E (Exact mapping: the two concepts are equivalent) X-linked lissencephaly type 1 Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:300067 UMLS:C4275012 X-linked recessive Adolescent Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2148 Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300067 E (Exact mapping: the two concepts are equivalent) UMLS:C4275012 E (Exact mapping: the two concepts are equivalent) A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood. Orphanet ICD-10:Q04.8 ICD-11:LA05.5Y OMIM:300049 OMIM:608097 OMIM:608098 OMIM:612881 OMIM:615544 OMIM:617201 UMLS:C5680679 Autosomal dominant Autosomal recessive X-linked dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2149 Nodular neuronal heterotopia ORPHA:2149 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300049 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608097 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608098 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612881 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615544 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617201 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680679 E (Exact mapping: the two concepts are equivalent) Congenital essential nyctalopia Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (&#8805;-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities. Orphanet ICD-10:H53.6 ICD-11:9D45 MeSH:C536122 OMIM:163500 OMIM:257270 OMIM:300071 OMIM:310500 OMIM:610427 OMIM:610444 OMIM:610445 OMIM:613216 OMIM:613830 OMIM:614565 OMIM:615058 OMIM:616389 OMIM:617024 UMLS:C0339535 Autosomal dominant Autosomal recessive X-linked recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=215 Congenital stationary night blindness ORPHA:215 ICD-10:H53.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9D45 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536122 E (Exact mapping: the two concepts are equivalent) OMIM:163500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:257270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300071 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:310500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610427 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610444 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610445 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613216 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614565 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615058 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616389 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617024 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0339535 E (Exact mapping: the two concepts are equivalent) Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. Orphanet ICD-10:Q43.1 MeSH:C538319 OMIM:306980 UMLS:C4303481 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2150 Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150 ICD-10:Q43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538319 E (Exact mapping: the two concepts are equivalent) OMIM:306980 E (Exact mapping: the two concepts are equivalent) UMLS:C4303481 E (Exact mapping: the two concepts are equivalent) A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. Orphanet ICD-10:Q43.1 MeSH:C538119 UMLS:C5191058 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2151 Hirschsprung disease-ganglioneuroblastoma syndrome ORPHA:2151 ICD-10:Q43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538119 E (Exact mapping: the two concepts are equivalent) UMLS:C5191058 E (Exact mapping: the two concepts are equivalent) Hirschsprung disease-intellectual disability syndrome A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations. Orphanet ICD-10:Q43.1 ICD-11:LD2F.1Y MeSH:C536990 OMIM:235730 UMLS:C1856113 Autosomal dominant Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2152 Mowat-Wilson syndrome ORPHA:2152 ICD-10:Q43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536990 E (Exact mapping: the two concepts are equivalent) OMIM:235730 E (Exact mapping: the two concepts are equivalent) UMLS:C1856113 E (Exact mapping: the two concepts are equivalent) Al Gazali-Donnai-Muller syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q43.1 MeSH:C535615 OMIM:235760 UMLS:C1856110 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153 ICD-10:Q43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535615 E (Exact mapping: the two concepts are equivalent) OMIM:235760 E (Exact mapping: the two concepts are equivalent) UMLS:C1856110 E (Exact mapping: the two concepts are equivalent) Hirschsprung disease-hearing loss-polydactyly syndrome Santos-Mateus-Leal syndrome Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q43.1 ICD-11:LD2H.Y MeSH:C537235 OMIM:235740 UMLS:C2931452 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2155 Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155 ICD-10:Q43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537235 E (Exact mapping: the two concepts are equivalent) OMIM:235740 E (Exact mapping: the two concepts are equivalent) UMLS:C2931452 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome ORPHA:2156 HAL deficiency HIS deficiency Histidase deficiency Histidine ammonia-lyase deficiency Histidinuria Hyperhistidinemia Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. Orphanet ICD-10:E70.8 ICD-11:5C50.20 MeSH:C538320 OMIM:235800 UMLS:C0220992 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 2.7 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2157 Histidinemia ORPHA:2157 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538320 E (Exact mapping: the two concepts are equivalent) OMIM:235800 E (Exact mapping: the two concepts are equivalent) UMLS:C0220992 E (Exact mapping: the two concepts are equivalent) A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:E70.8 MeSH:C538321 OMIM:235830 UMLS:C0268642 Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2158 Histidinuria-renal tubular defect syndrome ORPHA:2158 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538321 E (Exact mapping: the two concepts are equivalent) OMIM:235830 E (Exact mapping: the two concepts are equivalent) UMLS:C0268642 E (Exact mapping: the two concepts are equivalent) CLN disease NCL NCL disease Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. Orphanet ICD-10:E75.4 ICD-11:5C56.1 MeSH:D009472 MedDRA:10074607 UMLS:C0027877 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.56 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216 Neuronal ceroid lipofuscinosis Clinical group ORPHA:216 ICD-10:E75.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C56.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009472 E (Exact mapping: the two concepts are equivalent) MedDRA:10074607 E (Exact mapping: the two concepts are equivalent) UMLS:C0027877 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare developmental defect during embryogenesis OBSOLETE: Holoacardius amorphus ORPHA:2161 HPE A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity. Orphanet ICD-10:Q04.2 ICD-11:LA05.2 MeSH:D016142 MedDRA:10056304 OMIM:142945 OMIM:142946 OMIM:147250 OMIM:157170 OMIM:236100 OMIM:605934 OMIM:609408 OMIM:609637 OMIM:610828 OMIM:610829 OMIM:612530 OMIM:614226 OMIM:619895 UMLS:C0079541 Autosomal recessive Multigenic/multifactorial Not applicable Oligogenic X-linked dominant Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 13.4 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 502.0 AND has_birth_prevalence_range : >1 / 1000 Latin America AND has_birth_prevalence_average_value : 21.6 AND has_birth_prevalence_range : 1-5 / 10 000 Specific population AND has_birth_prevalence_average_value : 10.9 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 60.6 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2162 Holoprosencephaly ORPHA:2162 ICD-10:Q04.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA05.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016142 E (Exact mapping: the two concepts are equivalent) MedDRA:10056304 E (Exact mapping: the two concepts are equivalent) OMIM:142945 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:142946 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:147250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:157170 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:236100 E (Exact mapping: the two concepts are equivalent) OMIM:605934 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609408 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609637 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610828 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610829 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612530 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614226 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619895 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0079541 E (Exact mapping: the two concepts are equivalent) Camero-Lituania-Cohen syndrome Genoa syndrome Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. Orphanet ICD-10:Q04.2 ICD-11:LD20.3 MeSH:C537684 OMIM:601370 UMLS:C1832424 Antenatal Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2163 Holoprosencephaly-craniosynostosis syndrome ORPHA:2163 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537684 E (Exact mapping: the two concepts are equivalent) OMIM:601370 E (Exact mapping: the two concepts are equivalent) UMLS:C1832424 E (Exact mapping: the two concepts are equivalent) Isolated prelingual genetic deafness Isolated prelingual genetic hearing loss Prelingual non-syndromic genetic hearing loss This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-syndromic genetic deafness Prelingual non-syndromic genetic deafness ORPHA:216445 Isolated postlingual genetic deafness Isolated postlingual genetic hearing loss Postlingual non-syndromic genetic hearing loss This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-syndromic genetic deafness Postlingual non-syndromic genetic deafness ORPHA:216452 Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). Orphanet ICD-10:Q04.2 UMLS:C4749731 Antenatal Neonatal Spain AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2165 Holoprosencephaly-caudal dysgenesis syndrome ORPHA:2165 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749731 E (Exact mapping: the two concepts are equivalent) Pseudo-trisomy 13 syndrome Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term). Orphanet ICD-10:Q87.8 MeSH:C535829 OMIM:264480 UMLS:C1849649 Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2166 Holoprosencephaly-postaxial polydactyly syndrome ORPHA:2166 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535829 E (Exact mapping: the two concepts are equivalent) OMIM:264480 E (Exact mapping: the two concepts are equivalent) UMLS:C1849649 E (Exact mapping: the two concepts are equivalent) Complete transposition TGA TGV Transposition of the great vessels ICD-11:LA85.1 MeSH:D014188 MedDRA:10044443 UMLS:C0040761 Multigenic/multifactorial Not applicable Infancy Neonatal Belgium AND has_birth_prevalence_average_value : 23.3 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 59.5 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 31.7 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 33.4 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 47.5 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 28.8 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 18.1 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 22.6 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 40.9 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 31.1 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 4.7 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 37.7 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 33.9 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216675 Transposition of the great arteries Category ORPHA:216675 ICD-11:LA85.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014188 E (Exact mapping: the two concepts are equivalent) MedDRA:10044443 E (Exact mapping: the two concepts are equivalent) UMLS:C0040761 E (Exact mapping: the two concepts are equivalent) Congenitally corrected transposition of the great vessels Discordant ventriculoarterial and atrioventricular connections Double discordance L-transposition of the great arteries Levo-transposition of the great arteries Ventricular inversion Ventriculoarterial and atrioventricular discordance Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Orphanet ICD-10:Q20.5 ICD-11:LA85.00 MeSH:D000080041 MedDRA:10011120 UMLS:C0344616 Not applicable All ages Worldwide AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216694 Congenitally corrected transposition of the great arteries ORPHA:216694 ICD-10:Q20.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA85.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000080041 E (Exact mapping: the two concepts are equivalent) MedDRA:10011120 E (Exact mapping: the two concepts are equivalent) UMLS:C0344616 E (Exact mapping: the two concepts are equivalent) Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome Holzgreve-Wagner-Rehder syndrome Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q87.8 MeSH:C535327 OMIM:236110 UMLS:C1856095 Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2167 Holzgreve syndrome ORPHA:2167 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535327 E (Exact mapping: the two concepts are equivalent) OMIM:236110 E (Exact mapping: the two concepts are equivalent) UMLS:C1856095 E (Exact mapping: the two concepts are equivalent) Isolated congenitally uncorrected transposition of the great vessels ICD-10:Q20.3 UMLS:C5679810 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216718 Isolated congenitally uncorrected transposition of the great arteries Clinical subtype ORPHA:216718 ICD-10:Q20.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679810 E (Exact mapping: the two concepts are equivalent) Congenitally uncorrected transposition of the great vessels with cardiac malformation TGA with cardiac malformation ICD-10:Q20.3 UMLS:C5679811 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation Clinical subtype ORPHA:216729 ICD-10:Q20.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679811 E (Exact mapping: the two concepts are equivalent) Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities. Orphanet ICD-10:Q78.0 ICD-11:LD24.K0 OMIM:166200 OMIM:166230 Autosomal dominant Childhood Sweden AND has_birth_prevalence_average_value : 5.16 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216796 Osteogenesis imperfecta type 1 Clinical subtype ORPHA:216796 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.K0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:166200 E (Exact mapping: the two concepts are equivalent) OMIM:166230 BTNT (ORPHAcode is broader than the targeted code used to represent it) Homocarnosinase deficiency This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive spastic paraplegia type 11 MeSH:C535328 OMIM:236130 UMLS:C3495554 Homocarnosinosis ORPHA:2168 MeSH:C535328 E (Exact mapping: the two concepts are equivalent) OMIM:236130 E (Exact mapping: the two concepts are equivalent) UMLS:C3495554 E (Exact mapping: the two concepts are equivalent) Lethal osteogenesis imperfecta OI type 2 A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera. Orphanet ICD-10:Q78.0 ICD-11:LD24.K0 OMIM:166210 OMIM:259440 OMIM:610682 OMIM:610915 OMIM:618644 UMLS:C0268358 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216804 Osteogenesis imperfecta type 2 Clinical subtype ORPHA:216804 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.K0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:166210 E (Exact mapping: the two concepts are equivalent) OMIM:259440 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610682 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610915 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618644 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268358 E (Exact mapping: the two concepts are equivalent) OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta. Orphanet ICD-10:Q78.0 ICD-11:LD24.K0 MeSH:C536044 OMIM:259420 OMIM:259440 OMIM:610682 OMIM:610915 OMIM:610968 OMIM:613848 OMIM:613982 OMIM:614856 OMIM:615220 OMIM:616229 UMLS:C0268362 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Sweden AND has_birth_prevalence_average_value : 0.89 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216812 Osteogenesis imperfecta type 3 Clinical subtype ORPHA:216812 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.K0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536044 E (Exact mapping: the two concepts are equivalent) OMIM:259420 E (Exact mapping: the two concepts are equivalent) OMIM:259440 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610682 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610915 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610968 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613848 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613982 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614856 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616229 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268362 E (Exact mapping: the two concepts are equivalent) OI type 4 A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta. Orphanet ICD-10:Q78.0 ICD-11:LD24.K0 MeSH:C000631847 OMIM:166220 OMIM:259440 OMIM:610682 OMIM:610968 OMIM:613849 OMIM:613982 OMIM:615066 OMIM:615220 OMIM:616507 UMLS:C0268363 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Sweden AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216820 Osteogenesis imperfecta type 4 Clinical subtype ORPHA:216820 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.K0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000631847 E (Exact mapping: the two concepts are equivalent) OMIM:166220 E (Exact mapping: the two concepts are equivalent) OMIM:259440 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610682 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610968 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613849 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613982 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615066 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616507 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268363 E (Exact mapping: the two concepts are equivalent) OI type 5 A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta. Orphanet ICD-10:Q78.0 ICD-11:LD24.K0 MeSH:C567042 OMIM:610967 UMLS:C2931093 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 47.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216828 Osteogenesis imperfecta type 5 Clinical subtype ORPHA:216828 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.K0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567042 E (Exact mapping: the two concepts are equivalent) OMIM:610967 E (Exact mapping: the two concepts are equivalent) UMLS:C2931093 E (Exact mapping: the two concepts are equivalent) NBIA1, classic form Neurodegeneration with brain iron accumulation type 1, classic form PKAN, classic form ICD-10:G23.0 ICD-11:5C64.10 OMIM:234200 UMLS:C5679812 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype ORPHA:216866 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:234200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679812 E (Exact mapping: the two concepts are equivalent) NBIA1, atypical form Neurodegeneration with brain iron accumulation type 1, atypical form PKAN, atypical form ICD-10:G23.0 ICD-11:5C64.10 OMIM:234200 UMLS:C5568621 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype ORPHA:216873 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:234200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5568621 E (Exact mapping: the two concepts are equivalent) Functional methionine synthase deficiency type cblE ICD-10:E72.1 ICD-11:5C50.B MeSH:C565510 OMIM:236270 UMLS:C1856057 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2169 Methylcobalamin deficiency type cblE Clinical subtype ORPHA:2169 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565510 E (Exact mapping: the two concepts are equivalent) OMIM:236270 E (Exact mapping: the two concepts are equivalent) UMLS:C1856057 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:5C56.0Y UMLS:C5680866 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216972 Niemann-Pick disease type C, severe perinatal form Clinical subtype ORPHA:216972 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680866 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:5C56.0Y UMLS:C5680868 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216975 Niemann-Pick disease type C, severe early infantile neurologic onset Clinical subtype ORPHA:216975 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680868 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:5C56.0Y UMLS:C5680867 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216978 Niemann-Pick disease type C, late infantile neurologic onset Clinical subtype ORPHA:216978 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680867 E (Exact mapping: the two concepts are equivalent) Niemann-Pick disease type C, classic form ICD-10:E75.2 ICD-11:5C56.0Y UMLS:C5679813 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216981 Niemann-Pick disease type C, juvenile neurologic onset Clinical subtype ORPHA:216981 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679813 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:5C56.0Y UMLS:C5680869 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216986 Niemann-Pick disease type C, adult neurologic onset Clinical subtype ORPHA:216986 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680869 E (Exact mapping: the two concepts are equivalent) DDEB, Pasini type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant generalized dystrophic epidermolysis bullosa UMLS:C0432322 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type ORPHA:216989 UMLS:C0432322 E (Exact mapping: the two concepts are equivalent) A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. Orphanet ICD-10:Q03.1 ICD-11:LA06.0 OMIM:220200 UMLS:C5680466 Multigenic/multifactorial Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217 Isolated Dandy-Walker malformation ORPHA:217 ICD-10:Q03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA06.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:220200 E (Exact mapping: the two concepts are equivalent) UMLS:C5680466 E (Exact mapping: the two concepts are equivalent) Functional methionine synthase deficiency type cblG ICD-10:E72.1 ICD-11:5C50.B MeSH:C565394 OMIM:250940 UMLS:C1855128 Autosomal recessive All ages Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2170 Methylcobalamin deficiency type cblG Clinical subtype ORPHA:2170 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565394 E (Exact mapping: the two concepts are equivalent) OMIM:250940 E (Exact mapping: the two concepts are equivalent) UMLS:C1855128 E (Exact mapping: the two concepts are equivalent) Genuine diffuse phlebectasia A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur. Orphanet ICD-10:Q27.4 ICD-11:LC51 UMLS:C5679814 Not applicable Childhood Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217008 Bockenheimer syndrome ORPHA:217008 ICD-10:Q27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679814 E (Exact mapping: the two concepts are equivalent) SCA31 An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MeSH:C566146 OMIM:117210 UMLS:C1861736 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217012 Spinocerebellar ataxia type 31 ORPHA:217012 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566146 E (Exact mapping: the two concepts are equivalent) OMIM:117210 E (Exact mapping: the two concepts are equivalent) UMLS:C1861736 E (Exact mapping: the two concepts are equivalent) Occipital atretic cephalocele-unusual facies-large feet syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Orphanet ICD-10:Q87.8 MeSH:C567865 OMIM:612916 UMLS:C2752047 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217017 Zechi-Ceide syndrome ORPHA:217017 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567865 E (Exact mapping: the two concepts are equivalent) OMIM:612916 E (Exact mapping: the two concepts are equivalent) UMLS:C2752047 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Atypical HUS with thrombomodulin anomaly OBSOLETE: D- HUS with thrombomodulin anomaly OBSOLETE: Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly OBSOLETE: aHUS with thrombomodulin anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly ORPHA:217023 Hadziselimovic syndrome Microcephaly-faciocardioskeletal syndrome Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C567850 OMIM:612946 UMLS:C2751878 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567850 E (Exact mapping: the two concepts are equivalent) OMIM:612946 E (Exact mapping: the two concepts are equivalent) UMLS:C2751878 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Obesity due to MC3R deficiency ORPHA:217031 Azoospermia due to maturation arrest Azoospermia due to meiosis defect Male infertility with normal virilization due to maturation arrest This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with normal virilization due to meiosis defect ORPHA:217034 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early-onset partial cataract OBSOLETE: Autosomal recessive childhood-onset cortical cataract ORPHA:217046 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Early-onset non-syndromic cataract OBSOLETE: Rare non-syndromic cataract ORPHA:217049 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early-onset non-syndromic cataract OBSOLETE: Infantile non-syndromic cataract ORPHA:217052 RI-CMT type A A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Orphanet ICD-10:G60.0 ICD-11:8C20.2 OMIM:608340 UMLS:C4750774 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A ORPHA:217055 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608340 E (Exact mapping: the two concepts are equivalent) UMLS:C4750774 E (Exact mapping: the two concepts are equivalent) Isolated congenital acropachy Isolated congenital digital clubbing Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality. Orphanet ICD-10:Q68.1 ICD-11:LB90.5 OMIM:119900 UMLS:C0345408 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217059 Isolated nail clubbing ORPHA:217059 ICD-10:Q68.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB90.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:119900 E (Exact mapping: the two concepts are equivalent) UMLS:C0345408 E (Exact mapping: the two concepts are equivalent) 5-fluorouracil intoxication A rare intoxication caused by the prolonged, low-dose administration of 5-fluorouracil, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-fluorouracil poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-fluorouracil-related toxicity than men. Orphanet ICD-10:T45.1 UMLS:C0274576 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217064 5-fluorouracil poisoning ORPHA:217064 ICD-10:T45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0274576 E (Exact mapping: the two concepts are equivalent) A rare intestinal disease characterized by non-specific inflammation of the ileal reservoir following ileal pouch anal anastomosis surgery. It generally occurs after the restoration of the fecal stream through the pouch and may be classified as acute or chronic, depending on the symptom duration (less or more than 4 weeks). Clinical presentation is variable and unspecific and commonly includes increased stool frequency and fluidity, rectal bleeding, abdominal cramps, bowel urgency, tenesmus, and nocturnal bowel incontinence. Orphanet ICD-10:K91.8 MeSH:D019449 MedDRA:10036463 UMLS:C0376620 Not applicable All ages Europe AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217067 Pouchitis ORPHA:217067 ICD-10:K91.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D019449 E (Exact mapping: the two concepts are equivalent) MedDRA:10036463 E (Exact mapping: the two concepts are equivalent) UMLS:C0376620 E (Exact mapping: the two concepts are equivalent) RCC ICD-11:2C90.0 MeSH:D002292 MedDRA:10067946 UMLS:C0007134 Not applicable Adult Europe AND has_annual_incidence_average_value : 8.35 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 42.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217071 Renal cell carcinoma Clinical group ORPHA:217071 ICD-11:2C90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002292 E (Exact mapping: the two concepts are equivalent) MedDRA:10067946 E (Exact mapping: the two concepts are equivalent) UMLS:C0007134 E (Exact mapping: the two concepts are equivalent) Rare pancreatic carcinoma MeSH:D010190 UMLS:C5680420 Not applicable Adult Europe AND has_annual_incidence_average_value : 11.79 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_lifetime_prevalence_average_value : 8.3 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 15.5 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217074 Rare carcinoma of pancreas Category ORPHA:217074 MeSH:D010190 E (Exact mapping: the two concepts are equivalent) UMLS:C5680420 E (Exact mapping: the two concepts are equivalent) ICD-10:B48.7 UMLS:C5680870 Not applicable All ages Europe AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217080 Pulmonary fungal infections in patients deemed at risk ORPHA:217080 ICD-10:B48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680870 E (Exact mapping: the two concepts are equivalent) Hunter syndrome type A Iduronate 2-sulfatase deficiency type A MPS2A MPSIIA Mucopolysaccharidosis type 2A Mucopolysaccharidosis type II, severe form Mucopolysaccharidosis type IIA Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. Orphanet ICD-10:E76.1 ICD-11:5C56.31 OMIM:309900 UMLS:C0342841 X-linked recessive Childhood Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype ORPHA:217085 ICD-10:E76.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0342841 E (Exact mapping: the two concepts are equivalent) Hunter syndrome type B Iduronate 2-sulfatase deficiency type B MPS2B MPSIIB Mucopolysaccharidosis type 2B Mucopolysaccharidosis type II, attenuated form Mucopolysaccharidosis type IIB Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline. Orphanet ICD-10:E76.1 ICD-11:5C56.31 OMIM:309900 UMLS:C5679815 X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype ORPHA:217093 ICD-10:E76.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679815 E (Exact mapping: the two concepts are equivalent) 15q22.31 B CYP-S1 CYPB OI9 PPIase S-cyclophilin SCYLP cyclophilin B peptidyl-prolyl cis-trans isomerase B rotamase B ClinVar:PPIB Ensembl:ENSG00000166794 Genatlas:PPIB HGNC:9255 OMIM:123841 Reactome:P23284 SwissProt:P23284 PPIB peptidylprolyl isomerase B A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Orphanet ICD-10:Q87.8 MeSH:C565411 OMIM:248760 UMLS:C1855348 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome ORPHA:2172 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565411 E (Exact mapping: the two concepts are equivalent) OMIM:248760 E (Exact mapping: the two concepts are equivalent) UMLS:C1855348 E (Exact mapping: the two concepts are equivalent) Limbic encephalitis with N-methyl-D-aspartate receptor antibodies Limbic encephalitis with NMDA receptor antibodies N-methyl-D-aspartate receptor encephalitis NMDARE anti-NMDA receptor encephalitis A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation. Orphanet ICD-10:G13.1 MeSH:D060426 UMLS:C5700343 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217253 NMDA receptor encephalitis ORPHA:217253 ICD-10:G13.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D060426 E (Exact mapping: the two concepts are equivalent) UMLS:C5700343 E (Exact mapping: the two concepts are equivalent) PML Progressive multifocal leukoencephalitis ICD-10:A81.2 ICD-11:8A45.02 MeSH:D007968 MedDRA:10036807 UMLS:C0023524 Not applicable All ages France AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217260 Progressive multifocal leukoencephalopathy ORPHA:217260 ICD-10:A81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A45.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007968 E (Exact mapping: the two concepts are equivalent) MedDRA:10036807 E (Exact mapping: the two concepts are equivalent) UMLS:C0023524 E (Exact mapping: the two concepts are equivalent) Bifid nose with or without anorectal and renal anomalies BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms). Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C567672 OMIM:608980 UMLS:C2750433 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 9.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217266 BNAR syndrome ORPHA:217266 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567672 E (Exact mapping: the two concepts are equivalent) OMIM:608980 E (Exact mapping: the two concepts are equivalent) UMLS:C2750433 E (Exact mapping: the two concepts are equivalent) Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata UMLS:C1854061 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome ORPHA:217315 UMLS:C1854061 E (Exact mapping: the two concepts are equivalent) ADTKD-REN FJHN type 2 Familial juvenile hyperuricemic nephropathy type 2 REN-associated FJHN REN-associated familial juvenile hyperuricemic nephropathy REN-associated kidney disease A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to <i>REN</i> mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Orphanet ICD-10:Q61.5 OMIM:613092 UMLS:C4303080 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 35.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217330 REN-related autosomal dominant tubulointerstitial kidney disease Clinical subtype ORPHA:217330 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613092 E (Exact mapping: the two concepts are equivalent) UMLS:C4303080 E (Exact mapping: the two concepts are equivalent) MACS syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome RIN2 deficiency Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported. Orphanet ICD-10:Q82.8 ICD-11:LD28.2 MeSH:C567770 OMIM:613075 UMLS:C2751321 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217335 RIN2 syndrome ORPHA:217335 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567770 E (Exact mapping: the two concepts are equivalent) OMIM:613075 E (Exact mapping: the two concepts are equivalent) UMLS:C2751321 E (Exact mapping: the two concepts are equivalent) Dup(17)(q21.31) Trisomy 17q21.31 The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Orphanet ICD-10:Q92.3 ICD-11:LD41.G0 OMIM:613533 UMLS:C4274345 Not applicable Unknown Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217340 17q21.31 microduplication syndrome ORPHA:217340 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613533 E (Exact mapping: the two concepts are equivalent) UMLS:C4274345 E (Exact mapping: the two concepts are equivalent) Del(19)(q13.11) Monosomy 19q13.11 The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Orphanet ICD-10:Q93.5 ICD-11:LD44.K0 OMIM:613026 OMIM:617219 UMLS:C4304577 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217346 19q13.11 microdeletion syndrome ORPHA:217346 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.K0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613026 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617219 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4304577 E (Exact mapping: the two concepts are equivalent) Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:613070 UMLS:C4304057 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ORPHA:217371 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613070 E (Exact mapping: the two concepts are equivalent) UMLS:C4304057 E (Exact mapping: the two concepts are equivalent) Dup(X)(p11.22p11.23) Trisomy Xp11.22p11.23 Familial and <i>de novo</i> recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Orphanet ICD-10:Q99.8 ICD-11:LD51 OMIM:300801 UMLS:C4303068 Not applicable X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217377 Microduplication Xp11.22p11.23 syndrome ORPHA:217377 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300801 E (Exact mapping: the two concepts are equivalent) UMLS:C4303068 E (Exact mapping: the two concepts are equivalent) Cerebral folate deficiency Cerebral folate transport deficiency Folate receptor alpha deficiency ICD-10:G31.8 ICD-11:5C63.1 MeSH:C567791 OMIM:613068 UMLS:C2751584 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217382 Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567791 E (Exact mapping: the two concepts are equivalent) OMIM:613068 E (Exact mapping: the two concepts are equivalent) UMLS:C2751584 E (Exact mapping: the two concepts are equivalent) 17p13.3 duplication syndrome Dup(17)(p13.3) Trisomy 17p13.3 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. Orphanet ICD-10:Q92.3 ICD-11:LD41.G1 OMIM:613215 UMLS:C4304641 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217385 17p13.3 microduplication syndrome ORPHA:217385 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613215 E (Exact mapping: the two concepts are equivalent) UMLS:C4304641 E (Exact mapping: the two concepts are equivalent) CID due to DOCK8 deficiency Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency DOCK8 immunodeficiency syndrome Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). Orphanet ICD-10:D81.1 ICD-11:4A01.1Y OMIM:243700 UMLS:C5679816 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217390 Combined immunodeficiency due to DOCK8 deficiency ORPHA:217390 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:243700 E (Exact mapping: the two concepts are equivalent) UMLS:C5679816 E (Exact mapping: the two concepts are equivalent) Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Orphanet ICD-10:E88.8 OMIM:613710 UMLS:C3150973 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217396 Progressive polyneuropathy with bilateral striatal necrosis ORPHA:217396 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613710 E (Exact mapping: the two concepts are equivalent) UMLS:C3150973 E (Exact mapping: the two concepts are equivalent) Congenital absence of pain with hyperhidrosis Congenital analgesia with hyperhidrosis Congenital indifference to pain with hyperhidrosis Congenital insensitivity to pain with hyperhidrosis A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands. Orphanet ICD-10:G60.8 UMLS:C5679817 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation ORPHA:217399 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679817 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Infantile neuroaxonal dystrophy Hunter-Carpenter-McDonald syndrome ORPHA:2174 Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Orphanet ICD-10:Q84.2 MeSH:C567751 OMIM:613102 UMLS:C2751292 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217407 Hereditary hypotrichosis with recurrent skin vesicles ORPHA:217407 ICD-10:Q84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567751 E (Exact mapping: the two concepts are equivalent) OMIM:613102 E (Exact mapping: the two concepts are equivalent) UMLS:C2751292 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Circumscribed lymphangioma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Macrocystic lymphatic malformation OBSOLETE: Circumscribed lymphatic malformation ORPHA:217410 UMLS:C5680871 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217454 Rare hereditary thrombophilia Clinical group ORPHA:217454 UMLS:C5680871 E (Exact mapping: the two concepts are equivalent) Hereditary thrombophilia due to congenital HRG deficiency A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. Orphanet ICD-10:D68.5 ICD-11:3B61.0Y OMIM:613116 UMLS:C5190887 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency ORPHA:217467 ICD-10:D68.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613116 E (Exact mapping: the two concepts are equivalent) UMLS:C5190887 E (Exact mapping: the two concepts are equivalent) Infantile cellular interstitial pneumonitis PIG Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term). Orphanet ICD-10:P22.8 ICD-11:CB04.Y UMLS:C3161106 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217557 Pulmonary interstitial glycogenosis ORPHA:217557 ICD-10:P22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3161106 E (Exact mapping: the two concepts are equivalent) NCHI NEHI Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure. Orphanet ICD-10:J84.8 ICD-11:CB04.7 MedDRA:10072968 UMLS:C3161105 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217560 Neuroendocrine cell hyperplasia of infancy ORPHA:217560 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10072968 E (Exact mapping: the two concepts are equivalent) UMLS:C3161105 E (Exact mapping: the two concepts are equivalent) Hyaline membrane disease Neonatal RDS Neonatal acute respiratory distress due to surfactant protein deficiency A rare genetic interstitial lung disease characterized by progressive, life-threatening, refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases, the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces. Orphanet ICD-10:P28.0 ICD-11:CB04.2 MeSH:C566882 OMIM:265120 UMLS:C1968602 Autosomal recessive Neonatal Worldwide AND has_birth_prevalence_average_value : 0.067 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217563 Neonatal acute respiratory distress syndrome ORPHA:217563 ICD-10:P28.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:CB04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566882 E (Exact mapping: the two concepts are equivalent) OMIM:265120 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1968602 E (Exact mapping: the two concepts are equivalent) Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. Orphanet ICD-10:J84.8 OMIM:610913 UMLS:C5190853 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217566 Chronic respiratory distress with surfactant metabolism deficiency ORPHA:217566 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610913 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190853 E (Exact mapping: the two concepts are equivalent) MeSH:D002312 MedDRA:10020871 UMLS:C5680884 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217569 Rare hypertrophic cardiomyopathy Category ORPHA:217569 MeSH:D002312 E (Exact mapping: the two concepts are equivalent) MedDRA:10020871 E (Exact mapping: the two concepts are equivalent) UMLS:C5680884 E (Exact mapping: the two concepts are equivalent) GSD with hypertrophic cardiomyopathy Glycogenosis with hypertrophic cardiomyopathy UMLS:C5397268 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217572 Glycogen storage disease with hypertrophic cardiomyopathy Category ORPHA:217572 UMLS:C5397268 E (Exact mapping: the two concepts are equivalent) UMLS:C5397275 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217581 Lysosomal disease with hypertrophic cardiomyopathy Category ORPHA:217581 UMLS:C5397275 E (Exact mapping: the two concepts are equivalent) UMLS:C5680879 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217587 Mitochondrial disease with hypertrophic cardiomyopathy Category ORPHA:217587 UMLS:C5680879 E (Exact mapping: the two concepts are equivalent) UMLS:C5680880 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Category ORPHA:217591 UMLS:C5680880 E (Exact mapping: the two concepts are equivalent) UMLS:C5680881 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217595 Syndrome associated with hypertrophic cardiomyopathy Category ORPHA:217595 UMLS:C5680881 E (Exact mapping: the two concepts are equivalent) UMLS:C5680883 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217598 Non-familial hypertrophic cardiomyopathy Category ORPHA:217598 UMLS:C5680883 E (Exact mapping: the two concepts are equivalent) Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. Orphanet ICD-10:E78.8 ICD-11:EE6Y OMIM:228600 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2176 Infantile systemic hyalinosis Clinical subtype ORPHA:2176 ICD-10:E78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EE6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:228600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-familial hypertrophic cardiomyopathy OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training ORPHA:217601 ICD-10:I42.0 ICD-11:BC43.0 MeSH:D002311 MedDRA:10056370 UMLS:C0007193 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217604 Dilated cardiomyopathy Category ORPHA:217604 ICD-10:I42.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:BC43.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002311 E (Exact mapping: the two concepts are equivalent) MedDRA:10056370 E (Exact mapping: the two concepts are equivalent) UMLS:C0007193 E (Exact mapping: the two concepts are equivalent) MeSH:C536231 UMLS:C0340427 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217607 Familial dilated cardiomyopathy Category ORPHA:217607 MeSH:C536231 E (Exact mapping: the two concepts are equivalent) UMLS:C0340427 E (Exact mapping: the two concepts are equivalent) UMLS:C5680878 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217610 Neuromuscular disease with dilated cardiomyopathy Category ORPHA:217610 UMLS:C5680878 E (Exact mapping: the two concepts are equivalent) UMLS:C5680874 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217613 Mitochondrial disease with dilated cardiomyopathy Category ORPHA:217613 UMLS:C5680874 E (Exact mapping: the two concepts are equivalent) UMLS:C5680875 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Category ORPHA:217616 UMLS:C5680875 E (Exact mapping: the two concepts are equivalent) UMLS:C5680876 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217619 Syndrome associated with dilated cardiomyopathy Category ORPHA:217619 UMLS:C5680876 E (Exact mapping: the two concepts are equivalent) Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Sensorineural hearing loss with dilated cardiomyopathy Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Orphanet ICD-10:I42.0 OMIM:605362 UMLS:C4510220 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217622 Sensorineural deafness with dilated cardiomyopathy ORPHA:217622 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605362 E (Exact mapping: the two concepts are equivalent) UMLS:C4510220 E (Exact mapping: the two concepts are equivalent) ICD-11:BC43.01 UMLS:C5681849 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217629 Non-familial dilated cardiomyopathy Category ORPHA:217629 ICD-11:BC43.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681849 E (Exact mapping: the two concepts are equivalent) ICD-11:BC43.2 MeSH:D002313 MedDRA:10038748 UMLS:C0007196 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217632 Restrictive cardiomyopathy Category ORPHA:217632 ICD-11:BC43.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002313 E (Exact mapping: the two concepts are equivalent) MedDRA:10038748 E (Exact mapping: the two concepts are equivalent) UMLS:C0007196 E (Exact mapping: the two concepts are equivalent) UMLS:C0340429 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217635 Familial restrictive cardiomyopathy Category ORPHA:217635 UMLS:C0340429 E (Exact mapping: the two concepts are equivalent) UMLS:C5680886 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217638 Lysosomal disease with restrictive cardiomyopathy Category ORPHA:217638 UMLS:C5680886 E (Exact mapping: the two concepts are equivalent) ACM Familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. Orphanet ICD-10:I42.8 ICD-11:BC43.6 OMIM:107970 OMIM:600996 OMIM:602086 OMIM:602087 OMIM:604400 OMIM:604401 OMIM:607450 OMIM:609040 OMIM:610193 OMIM:610476 OMIM:611528 OMIM:615616 UMLS:C4274968 Autosomal dominant No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217656 Inherited isolated arrhythmogenic cardiomyopathy ORPHA:217656 ICD-10:I42.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:107970 E (Exact mapping: the two concepts are equivalent) OMIM:600996 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602086 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602087 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604401 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607450 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609040 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610193 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610476 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611528 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615616 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274968 E (Exact mapping: the two concepts are equivalent) UMLS:C4682345 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217678 Unclassified cardiomyopathy Category ORPHA:217678 UMLS:C4682345 E (Exact mapping: the two concepts are equivalent) A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical. Orphanet ICD-10:Q04.3 ICD-11:LA05.62 MeSH:D006832 MedDRA:10073472 OMIM:605013 UMLS:C0020225 Autosomal recessive Unknown Antenatal Neonatal Japan AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2177 Hydranencephaly ORPHA:2177 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA05.62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006832 E (Exact mapping: the two concepts are equivalent) MedDRA:10073472 E (Exact mapping: the two concepts are equivalent) OMIM:605013 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0020225 E (Exact mapping: the two concepts are equivalent) ICD-11:BC43.20 UMLS:C5680885 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=217720 Non-familial restrictive cardiomyopathy Category ORPHA:217720 ICD-11:BC43.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680885 E (Exact mapping: the two concepts are equivalent) Darier-White disease Keratosis follicularis A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia. Orphanet ICD-10:Q82.8 ICD-11:EC20.2 MeSH:D007644 MedDRA:10023369 OMIM:124200 UMLS:C0022595 Autosomal dominant Adolescent Adult Childhood Denmark AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000 Singapore AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=218 Darier disease ORPHA:218 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EC20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007644 E (Exact mapping: the two concepts are equivalent) MedDRA:10023369 E (Exact mapping: the two concepts are equivalent) OMIM:124200 E (Exact mapping: the two concepts are equivalent) UMLS:C0022595 E (Exact mapping: the two concepts are equivalent) Ferlini-Ragno-Calzolari syndrome Waaler-Aarskog syndrome A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Orphanet ICD-10:Q87.8 MeSH:C536461 OMIM:600991 UMLS:C2931197 Unknown Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome ORPHA:2180 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536461 E (Exact mapping: the two concepts are equivalent) OMIM:600991 E (Exact mapping: the two concepts are equivalent) UMLS:C2931197 E (Exact mapping: the two concepts are equivalent) 5p15.1 FLJ20152 JK1 ClinVar:FAM134B Ensembl:ENSG00000154153 Genatlas:FAM134B HGNC:25964 OMIM:613114 SwissProt:Q9H6L5 RETREG1 reticulophagy regulator 1 17q25.3 SCAN-1 SHAPY Soluble Ca-Activated Nucleotidase, isozyme 1 apyrase 1 homolog (C. lectularius) ClinVar:CANT1 Ensembl:ENSG00000171302 Genatlas:CANT1 HGNC:19721 OMIM:613165 Reactome:Q8WVQ1 SwissProt:Q8WVQ1 CANT1 calcium activated nucleotidase 1 10q25.2 ClinVar:RBM20 Ensembl:ENSG00000203867 Genatlas:RBM20 HGNC:27424 OMIM:613171 SwissProt:Q5T481 RBM20 RNA binding motif protein 20 16q24.1 CILD13 DAU1 FLJ25330 ODA7 outer row dynein assembly 7 homolog (Chlamydomonas) swt ClinVar:DNAAF1 Ensembl:ENSG00000154099 Genatlas:DNAAF1 HGNC:30539 OMIM:613190 Reactome:Q8NEP3 SwissProt:Q8NEP3 DNAAF1 dynein axonemal assembly factor 1 8q24.3 IKBKBBP KIAA1882 MRT13 NIBP T1 TRAPP 120 kDa subunit TRS120 tularik gene 1 ClinVar:TRAPPC9 Ensembl:ENSG00000167632 Genatlas:TRAPPC9 HGNC:30832 OMIM:611966 Reactome:Q96Q05 SwissProt:Q96Q05 TRAPPC9 trafficking protein particle complex subunit 9 Daish-Hardman-Lamont syndrome Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:Q87.8 MeSH:C535770 OMIM:236660 UMLS:C1856051 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2181 Hydrocephaly-tall stature-joint laxity syndrome ORPHA:2181 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535770 E (Exact mapping: the two concepts are equivalent) OMIM:236660 E (Exact mapping: the two concepts are equivalent) UMLS:C1856051 E (Exact mapping: the two concepts are equivalent) Bickers-Adams syndrome HSAS X-linked HSAS X-linked acqueductal stenosis X-linked hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis. Orphanet ICD-10:Q03.0 ICD-11:LA04.0 MeSH:C536078 OMIM:307000 UMLS:C0265216 X-linked recessive Antenatal Neonatal Worldwide AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2182 Hydrocephalus with stenosis of the aqueduct of Sylvius Clinical subtype ORPHA:2182 ICD-10:Q03.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA04.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536078 E (Exact mapping: the two concepts are equivalent) OMIM:307000 E (Exact mapping: the two concepts are equivalent) UMLS:C0265216 E (Exact mapping: the two concepts are equivalent) Sengers-Hamel-Otten syndrome A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. Orphanet ICD-10:Q87.1 UMLS:C4303476 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2183 Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303476 E (Exact mapping: the two concepts are equivalent) 20q11.21 LQT12 TACIP1 dystrophin-associated protein A1, 59kDa, acidic component pro-TGF-alpha cytoplasmic domain-interacting protein 1 ClinVar:SNTA1 Ensembl:ENSG00000101400 Genatlas:SNTA1 HGNC:11167 OMIM:601017 Reactome:Q13424 SwissProt:Q13424 SNTA1 syntrophin alpha 1 6p22.1 ClinVar:HLA-A Ensembl:ENSG00000206503 Genatlas:HLA-A HGNC:4931 OMIM:142800 Reactome:P04439 SwissProt:P04439 HLA-A major histocompatibility complex, class I, A Palmer-Pagon syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.0 MeSH:C538107 UMLS:C2931734 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2184 Hydrocephaly-low insertion umbilicus syndrome ORPHA:2184 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538107 E (Exact mapping: the two concepts are equivalent) UMLS:C2931734 E (Exact mapping: the two concepts are equivalent) OBSOLETE: RCM3 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated restrictive cardiomyopathy OBSOLETE: Familial restrictive cardiomyopathy type 3 ORPHA:218432 UMLS:C5680887 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=218436 Rare cardiac rhythm disease Category ORPHA:218436 UMLS:C5680887 E (Exact mapping: the two concepts are equivalent) UMLS:C5680888 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=218439 Non-genetic cardiac rhythm disease Category ORPHA:218439 UMLS:C5680888 E (Exact mapping: the two concepts are equivalent) A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly. Orphanet ICD-10:Q03.0 ICD-10:Q03.1 ICD-10:Q03.8 ICD-10:Q03.9 ICD-11:LA04 MedDRA:10010506 OMIM:236600 OMIM:615219 UMLS:C0020256 Not applicable Antenatal Europe AND has_birth_prevalence_average_value : 46.5 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 59.0 AND has_birth_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2185 Congenital hydrocephalus ORPHA:2185 ICD-10:Q03.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q03.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q03.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q03.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10010506 E (Exact mapping: the two concepts are equivalent) OMIM:236600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615219 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020256 E (Exact mapping: the two concepts are equivalent) Daentl-Townsend-Siegel syndrome A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q87.8 UMLS:C4750751 Unknown No data available Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2186 Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750751 E (Exact mapping: the two concepts are equivalent) 3p22.3 KIAA0089 ClinVar:GPD1L Ensembl:ENSG00000152642 Genatlas:GPD1L HGNC:28956 OMIM:611778 Reactome:Q8N335 SwissProt:Q8N335 GPD1L glycerol-3-phosphate dehydrogenase 1 like 11q24.1 HSA243396 SCNB3 ClinVar:SCN3B Ensembl:ENSG00000166257 Genatlas:SCN3B HGNC:20665 OMIM:608214 Reactome:Q9NY72 SwissProt:Q9NY72 SCN3B sodium voltage-gated channel beta subunit 3 Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536079 OMIM:236680 OMIM:614120 UMLS:C2931104 Autosomal recessive Antenatal Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2189 Hydrolethalus ORPHA:2189 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536079 E (Exact mapping: the two concepts are equivalent) OMIM:236680 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614120 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931104 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2F Delta-sarcoglycan-related LGMD R6 Delta-sarcoglycanopathy LGMD due to delta-sarcoglycan deficiency LGMD type 2F LGMD2F Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2F A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C535896 OMIM:601287 UMLS:C1832525 Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 ORPHA:219 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535896 E (Exact mapping: the two concepts are equivalent) OMIM:601287 E (Exact mapping: the two concepts are equivalent) UMLS:C1832525 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic renal or urinary tract malformation OBSOLETE: Congenital hydronephrosis ORPHA:2190 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare immune disease OBSOLETE: Anti-HLA hyperimmunization ORPHA:2194 Glutamate-aspartate transport defect A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations. Orphanet ICD-10:E72.0 ICD-11:5C60.Y MeSH:C536171 OMIM:222730 UMLS:C1857253 Infancy Neonatal Specific population AND has_birth_prevalence_average_value : 2.76 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2195 Dicarboxylic aminoaciduria ORPHA:2195 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536171 E (Exact mapping: the two concepts are equivalent) OMIM:222730 E (Exact mapping: the two concepts are equivalent) UMLS:C1857253 E (Exact mapping: the two concepts are equivalent) FHHNC with severe ocular involvement Hypercalciuria-bilateral macular coloboma syndrome Meier-Blumberg-Imahorn syndrome Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. Orphanet ICD-10:E83.4 ICD-11:5C64.41 MeSH:C565423 OMIM:248190 UMLS:C1855466 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 72.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Clinical subtype ORPHA:2196 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565423 E (Exact mapping: the two concepts are equivalent) OMIM:248190 E (Exact mapping: the two concepts are equivalent) UMLS:C1855466 E (Exact mapping: the two concepts are equivalent) A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients. Orphanet ICD-10:E83.5 ICD-11:MF98.0 OMIM:143870 OMIM:607258 UMLS:C0543800 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2197 Idiopathic hypercalciuria ORPHA:2197 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:MF98.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:143870 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607258 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0543800 E (Exact mapping: the two concepts are equivalent) Bennion-Patterson syndrome Howell-Evans syndrome Keratosis palmoplantaris-esophageal carcinoma syndrome Palmoplantar hyperkeratosis-esophageal carcinoma syndrome Tylosis-oesophageal carcinoma syndrome A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Orphanet ICD-10:Q82.8 ICD-11:EC20.31 MeSH:C536164 OMIM:148500 UMLS:C1835664 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2198 Palmoplantar keratoderma-esophageal carcinoma syndrome ORPHA:2198 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536164 E (Exact mapping: the two concepts are equivalent) OMIM:148500 E (Exact mapping: the two concepts are equivalent) UMLS:C1835664 E (Exact mapping: the two concepts are equivalent) Diffuse erythrodermic palmoplantar keratoderma, Voerner type Diffuse erythrodermic palmoplantar keratoderma, Vörner type EPPK Epidermolytic palmoplantar keratoderma of Voerner Epidermolytic palmoplantar keratoderma of Vörner A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 MeSH:D053546 OMIM:144200 UMLS:C1721006 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2199 Epidermolytic palmoplantar keratoderma ORPHA:2199 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053546 E (Exact mapping: the two concepts are equivalent) OMIM:144200 E (Exact mapping: the two concepts are equivalent) UMLS:C1721006 E (Exact mapping: the two concepts are equivalent) 4-hydroxybutyric aciduria Gamma-hydroxybutyric aciduria SSADH deficiency A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. Orphanet ICD-10:E72.8 ICD-11:5C50.E1 MeSH:C535803 OMIM:271980 UMLS:C0268631 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 450.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=22 Succinic semialdehyde dehydrogenase deficiency ORPHA:22 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535803 E (Exact mapping: the two concepts are equivalent) OMIM:271980 E (Exact mapping: the two concepts are equivalent) UMLS:C0268631 E (Exact mapping: the two concepts are equivalent) Drash syndrome Wilms tumor-DSD syndrome Wilms tumor-disorder of sex development syndrome A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype. Orphanet ICD-10:N04.1 ICD-11:LD2A.Y MeSH:D030321 MedDRA:10070179 OMIM:194080 UMLS:C0950121 Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220 Denys-Drash syndrome ORPHA:220 ICD-10:N04.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D030321 E (Exact mapping: the two concepts are equivalent) MedDRA:10070179 E (Exact mapping: the two concepts are equivalent) OMIM:194080 E (Exact mapping: the two concepts are equivalent) UMLS:C0950121 E (Exact mapping: the two concepts are equivalent) Focal palmoplantar and gingival hyperkeratosis Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. Orphanet ICD-10:Q82.8 MeSH:C536157 OMIM:148730 UMLS:C1835650 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2200 Focal palmoplantar and gingival keratoderma ORPHA:2200 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536157 E (Exact mapping: the two concepts are equivalent) OMIM:148730 E (Exact mapping: the two concepts are equivalent) UMLS:C1835650 E (Exact mapping: the two concepts are equivalent) Palmoplantar hyperkeratosis-spastic paralysis syndrome Powell-Venencie-Gordon syndrome A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q82.8 MeSH:C538358 OMIM:148360 UMLS:C2931828 Autosomal dominant All ages Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2201 Palmoplantar keratoderma-spastic paralysis syndrome ORPHA:2201 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538358 E (Exact mapping: the two concepts are equivalent) OMIM:148360 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2931828 E (Exact mapping: the two concepts are equivalent) PPK-deafness syndrome Palmoplantar hyperkeratosis-deafness syndrome Palmoplantar hyperkeratosis-hearing loss syndrome Palmoplantar keratoderma-hearing loss syndrome Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 MeSH:C536152 OMIM:148350 UMLS:C1835672 Autosomal dominant Mitochondrial inheritance Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2202 Palmoplantar keratoderma-deafness syndrome ORPHA:2202 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536152 E (Exact mapping: the two concepts are equivalent) OMIM:148350 E (Exact mapping: the two concepts are equivalent) UMLS:C1835672 E (Exact mapping: the two concepts are equivalent) XP/CS complex Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term). Orphanet ICD-10:Q87.1 ICD-11:LD2B OMIM:278730 OMIM:278760 OMIM:278780 OMIM:610651 UMLS:C4304411 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:278730 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278760 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610651 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4304411 E (Exact mapping: the two concepts are equivalent) Hyperlysinemia type I Lysine alpha-ketoglutarate reductase deficiency A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition. Orphanet ICD-10:E72.3 ICD-11:5C50.4 MeSH:D020167 MedDRA:10081311 OMIM:238700 OMIM:238710 UMLS:C0268553 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2203 Hyperlysinemia ORPHA:2203 ICD-10:E72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020167 E (Exact mapping: the two concepts are equivalent) MedDRA:10081311 E (Exact mapping: the two concepts are equivalent) OMIM:238700 E (Exact mapping: the two concepts are equivalent) OMIM:238710 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268553 E (Exact mapping: the two concepts are equivalent) A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose. Orphanet ICD-10:Q04.2 ICD-11:LA05.2 OMIM:157170 OMIM:301043 OMIM:609637 OMIM:610829 UMLS:C0751617 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220386 Semilobar holoprosencephaly Clinical subtype ORPHA:220386 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:157170 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:301043 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610829 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751617 E (Exact mapping: the two concepts are equivalent) Diffuse cutaneous systemic scleroderma Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). Orphanet ICD-10:M34.0 ICD-11:4A42.1 Multigenic/multifactorial Not applicable Adult Taiwan, Province of China AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220393 Diffuse cutaneous systemic sclerosis Clinical subtype ORPHA:220393 ICD-10:M34.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A42.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Kozlowski-Tsuruta syndrome Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies. Orphanet ICD-10:M89.8 ICD-11:LD24.1Y UMLS:C5780027 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Clinical subtype ORPHA:2204 ICD-10:M89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5780027 E (Exact mapping: the two concepts are equivalent) Limited cutaneous systemic scleroderma Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. Orphanet ICD-10:M34.1 OMIM:181750 UMLS:C5574860 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220402 Limited cutaneous systemic sclerosis Clinical subtype ORPHA:220402 ICD-10:M34.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:181750 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5574860 E (Exact mapping: the two concepts are equivalent) Systemic sclerosis sine scleroderma Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin. Orphanet ICD-10:M34.0 ICD-11:4A42.2 UMLS:C0748540 Not applicable Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220407 Limited systemic sclerosis Clinical subtype ORPHA:220407 ICD-10:M34.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A42.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0748540 E (Exact mapping: the two concepts are equivalent) Factor V Quebec A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. Orphanet ICD-10:D69.1 ICD-11:3B62.00 MeSH:C536260 OMIM:601709 UMLS:C1866423 Autosomal dominant Adult Canada AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 0.45 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220436 Quebec platelet disorder ORPHA:220436 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536260 E (Exact mapping: the two concepts are equivalent) OMIM:601709 E (Exact mapping: the two concepts are equivalent) UMLS:C1866423 E (Exact mapping: the two concepts are equivalent) A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). Orphanet ICD-10:D69.8 ICD-11:3B62.1 OMIM:614009 UMLS:C5190857 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220443 Bleeding diathesis due to thromboxane synthesis deficiency ORPHA:220443 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:614009 E (Exact mapping: the two concepts are equivalent) UMLS:C5190857 E (Exact mapping: the two concepts are equivalent) Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. Orphanet ICD-10:D69.4 ICD-11:3B62.01 UMLS:C4749648 Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220448 Macrothrombocytopenia with mitral valve insufficiency ORPHA:220448 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749648 E (Exact mapping: the two concepts are equivalent) Isolated hereditary macrothrombocytopenia Isolated inherited giant platelet disorder Isolated inherited macrothrombocytopenia ICD-11:3B62.01 UMLS:C5679822 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220452 Isolated hereditary giant platelet disorder Category ORPHA:220452 ICD-11:3B62.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679822 E (Exact mapping: the two concepts are equivalent) AFAP Attenuated FAP Attenuated familial polyposis coli A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features. Orphanet ICD-10:D12.6 ICD-11:2B90.Y MeSH:C538265 OMIM:175100 OMIM:608456 OMIM:612591 OMIM:615083 OMIM:616415 UMLS:C2674616 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220460 Attenuated familial adenomatous polyposis ORPHA:220460 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538265 E (Exact mapping: the two concepts are equivalent) OMIM:175100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608456 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612591 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615083 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616415 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2674616 E (Exact mapping: the two concepts are equivalent) Laron-like syndrome Short stature due to STAT5b deficiency This syndrome is characterized by severe growth retardation associated with immunodeficiency. Orphanet ICD-10:D82.8 ICD-10:E34.3 ICD-11:5A61.0 OMIM:245590 OMIM:618985 UMLS:C4510411 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220465 Laron syndrome with immunodeficiency ORPHA:220465 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:E34.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245590 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618985 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4510411 E (Exact mapping: the two concepts are equivalent) Iron overload disease Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220489 Rare hereditary hemochromatosis Category ORPHA:220489 JS-O Joubert syndrome with retinopathy Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy. Orphanet ICD-10:H35.5 ICD-10:Q04.3 ICD-11:LD20.0Y OMIM:608629 OMIM:614424 OMIM:614464 OMIM:614970 OMIM:617121 UMLS:C4274118 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220493 Joubert syndrome with ocular defect ORPHA:220493 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608629 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614424 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614464 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614970 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617121 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274118 E (Exact mapping: the two concepts are equivalent) JS-R Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. Orphanet ICD-10:Q04.3 ICD-10:Q61.5 ICD-11:LD20.0Y OMIM:609583 OMIM:611560 OMIM:614424 UMLS:C4274117 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220497 Joubert syndrome with renal defect ORPHA:220497 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609583 E (Exact mapping: the two concepts are equivalent) OMIM:611560 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614424 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274117 E (Exact mapping: the two concepts are equivalent) A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. Orphanet ICD-10:M48.1 ICD-11:LD24.H OMIM:106400 UMLS:C0020498 Autosomal dominant Adult Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2206 Ankylosing vertebral hyperostosis with tylosis ORPHA:2206 ICD-10:M48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.H - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:106400 E (Exact mapping: the two concepts are equivalent) UMLS:C0020498 E (Exact mapping: the two concepts are equivalent) Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2207 Familial primary hyperparathyroidism Clinical group ORPHA:2207 5q11.2 CRL CRL3 GLM-R Glmr IL-31RA ClinVar:IL31RA Ensembl:ENSG00000164509 Genatlas:IL31RA HGNC:18969 IUPHAR:1710 OMIM:609510 Reactome:Q8NI17 SwissProt:Q8NI17 IL31RA interleukin 31 receptor A 18q21.32 FLJ30681 KIAA1983 ClinVar:CCBE1 Ensembl:ENSG00000183287 Genatlas:CCBE1 HGNC:29426 OMIM:612753 SwissProt:Q6UXH8 CCBE1 collagen and calcium binding EGF domains 1 10q25.2 KIAA0862 SOC-2 SOC2 SUR-8 SUR8 ClinVar:SHOC2 Ensembl:ENSG00000108061 Genatlas:SHOC2 HGNC:15454 OMIM:602775 Reactome:Q9UQ13 SwissProt:Q9UQ13 SHOC2 SHOC2 leucine rich repeat scaffold protein Hyperphenylalaninemic embryopathy Maternal PKU Maternal hyperphenylalaninemia Phenylketonuric embryopathy A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations. Orphanet ICD-10:E70.1 ICD-11:5C50.02 MeSH:D017042 OMIM:261600 UMLS:C0085547 Autosomal recessive Antenatal Neonatal Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2209 Maternal phenylketonuria ORPHA:2209 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017042 E (Exact mapping: the two concepts are equivalent) OMIM:261600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0085547 E (Exact mapping: the two concepts are equivalent) 3q27.3 HPRG HRGP histidine-proline rich glycoprotein thrombophilia due to elevated HRG ClinVar:HRG Ensembl:ENSG00000113905 Genatlas:HRG HGNC:5181 OMIM:142640 Reactome:P04196 SwissProt:P04196 HRG histidine rich glycoprotein 9p22.3 C9orf143 C9orf145 DKFZp686M16108 FLJ25461 TILRR ClinVar:FREM1 Ensembl:ENSG00000164946 Genatlas:FREM1 HGNC:23399 OMIM:608944 SwissProt:Q5H8C1 FREM1 FRAS1 related extracellular matrix 1 20p11.23 RASSF4 ClinVar:RIN2 Ensembl:ENSG00000132669 Genatlas:RIN2 HGNC:18750 OMIM:610222 Reactome:Q8WYP3 SwissProt:Q8WYP3 RIN2 Ras and Rab interactor 2 11q13.4 FRa folate receptor alpha ClinVar:FOLR1 Ensembl:ENSG00000110195 Genatlas:FOLR1 HGNC:3791 IUPHAR:3212 OMIM:136430 Reactome:P15328 SwissProt:P15328 FOLR1 folate receptor 1 9p24.3 FLJ00026 FLJ00152 FLJ00346 ZIR8 ClinVar:DOCK8 Ensembl:ENSG00000107099 Genatlas:DOCK8 HGNC:19191 OMIM:611432 Reactome:Q8NF50 SwissProt:Q8NF50 DOCK8 dedicator of cytokinesis 8 18q12.1 CDHF3 DSC DSC1 DSC2 ClinVar:DSC3 Ensembl:ENSG00000134762 Genatlas:DSC3 HGNC:3037 OMIM:600271 Reactome:Q14574 SwissProt:Q14574 DSC3 desmocollin 3 Adult dermatomyositis A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis. Orphanet ICD-10:M33.0 ICD-10:M33.1 ICD-11:4A41.00 MeSH:D003882 MedDRA:10012503 UMLS:C0011633 Not applicable Adult Elderly Argentina AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Argentina AND has_point_prevalence_average_value : 10.2 AND has_point_prevalence_range : 1-5 / 10 000 Australia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 1.97 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 3.5 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 11.3 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 4.9172 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.49 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 0.9704 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 7.5312 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221 Dermatomyositis ORPHA:221 ICD-10:M33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M33.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003882 E (Exact mapping: the two concepts are equivalent) MedDRA:10012503 E (Exact mapping: the two concepts are equivalent) UMLS:C0011633 E (Exact mapping: the two concepts are equivalent) Poikiloderma of Rothmund-Thomson type 1 RTS1 Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer. Orphanet ICD-10:Q82.8 ICD-11:LD2B OMIM:268400 OMIM:618625 UMLS:C5231433 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221008 Rothmund-Thomson syndrome type 1 Clinical subtype ORPHA:221008 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:618625 E (Exact mapping: the two concepts are equivalent) UMLS:C5231433 E (Exact mapping: the two concepts are equivalent) Poikiloderma of Rothmund-Thomson type 2 RTS2 Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. Orphanet ICD-10:Q82.8 ICD-11:LD2B OMIM:268400 UMLS:C5203410 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221016 Rothmund-Thomson syndrome type 2 Clinical subtype ORPHA:221016 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5203410 E (Exact mapping: the two concepts are equivalent) A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported. Orphanet ICD-10:Q82.8 ICD-11:EC10 OMIM:173700 UMLS:C5680890 Childhood Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221039 Hereditary sclerosing poikiloderma, Weary type ORPHA:221039 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:173700 E (Exact mapping: the two concepts are equivalent) UMLS:C5680890 E (Exact mapping: the two concepts are equivalent) POIKTMP syndrome Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. Orphanet ICD-10:Q82.8 OMIM:615704 UMLS:C4749823 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome ORPHA:221043 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615704 E (Exact mapping: the two concepts are equivalent) UMLS:C4749823 E (Exact mapping: the two concepts are equivalent) Poikiloderma with neutropenia, Clericuzio type Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features. Orphanet ICD-10:D82.8 ICD-11:EC10 MeSH:C565820 OMIM:604173 UMLS:C1858723 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221046 Poikiloderma with neutropenia ORPHA:221046 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565820 E (Exact mapping: the two concepts are equivalent) OMIM:604173 E (Exact mapping: the two concepts are equivalent) UMLS:C1858723 E (Exact mapping: the two concepts are equivalent) Acrocephalopolydactylous dysplasia Elejalde acrocephalopolydactyly An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C573722 OMIM:200995 UMLS:C3495588 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221054 Acrocephalopolydactyly ORPHA:221054 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C573722 E (Exact mapping: the two concepts are equivalent) OMIM:200995 E (Exact mapping: the two concepts are equivalent) UMLS:C3495588 E (Exact mapping: the two concepts are equivalent) Familial brain cavernous angioma Familial cerebral cavernoma Hereditary brain cavernous angioma Hereditary cerebral cavernoma Hereditary cerebral cavernous malformation A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. Orphanet ICD-10:Q28.3 ICD-11:LA90.0Y MeSH:C536610 OMIM:116860 OMIM:603284 OMIM:603285 OMIM:619538 UMLS:C2931263 Autosomal dominant All ages Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221061 Familial cerebral cavernous malformation ORPHA:221061 ICD-10:Q28.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536610 E (Exact mapping: the two concepts are equivalent) OMIM:116860 E (Exact mapping: the two concepts are equivalent) OMIM:603284 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603285 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619538 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931263 E (Exact mapping: the two concepts are equivalent) MBD A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma. Orphanet ICD-10:G37.1 ICD-11:8A46 MeSH:D054319 MedDRA:10026828 UMLS:C0238265 Adult Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221074 Marchiafava-Bignami disease ORPHA:221074 ICD-10:G37.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A46 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054319 E (Exact mapping: the two concepts are equivalent) MedDRA:10026828 E (Exact mapping: the two concepts are equivalent) UMLS:C0238265 E (Exact mapping: the two concepts are equivalent) A rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia. Orphanet ICD-10:G52.7 ICD-11:8A85 UMLS:C5190851 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221078 Combined hyperactive dysfunction syndrome of the cranial nerves ORPHA:221078 ICD-10:G52.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A85 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190851 E (Exact mapping: the two concepts are equivalent) Facial hemispasm Focal myoclonus of face A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported. Orphanet ICD-10:G51.3 ICD-11:8B88.2 MeSH:D019569 UMLS:C1841639 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221083 Hemifacial spasm ORPHA:221083 ICD-10:G51.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B88.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D019569 E (Exact mapping: the two concepts are equivalent) UMLS:C1841639 E (Exact mapping: the two concepts are equivalent) A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men. Orphanet ICD-10:G50.0 ICD-11:8B82.0 MeSH:D014277 MedDRA:10044652 OMIM:190400 UMLS:C0040997 Not applicable Adolescent Adult Elderly United Kingdom AND has_annual_incidence_average_value : 8.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 4.3 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221091 Trigeminal neuralgia ORPHA:221091 ICD-10:G50.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B82.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014277 E (Exact mapping: the two concepts are equivalent) MedDRA:10044652 E (Exact mapping: the two concepts are equivalent) OMIM:190400 E (Exact mapping: the two concepts are equivalent) UMLS:C0040997 E (Exact mapping: the two concepts are equivalent) A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia. Orphanet ICD-10:G52.1 ICD-11:8B87 MeSH:D020435 MedDRA:10018391 UMLS:C0154731 Adolescent Adult Elderly United States AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221098 Glossopharyngeal neuralgia ORPHA:221098 ICD-10:G52.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B87 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020435 E (Exact mapping: the two concepts are equivalent) MedDRA:10018391 E (Exact mapping: the two concepts are equivalent) UMLS:C0154731 E (Exact mapping: the two concepts are equivalent) Acrofrontofacionasal dysostosis type 2 Acrofrontofacionasal syndrome type 2 Naguib-Richieri-Costa syndrome Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD25.3 MeSH:C538332 OMIM:239710 UMLS:C1855904 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2211 Hypertelorism-hypospadias-polysyndactyly syndrome ORPHA:2211 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538332 E (Exact mapping: the two concepts are equivalent) OMIM:239710 E (Exact mapping: the two concepts are equivalent) UMLS:C1855904 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acquired peripheral movement disorder OBSOLETE: Isolated facial myokymia ORPHA:221106 Facial neuralgia UMLS:C0010269 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221109 Cranial neuralgia Clinical group ORPHA:221109 UMLS:C0010269 E (Exact mapping: the two concepts are equivalent) UMLS:C5680889 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221114 Acquired peripheral movement disorder Category ORPHA:221114 UMLS:C5680889 E (Exact mapping: the two concepts are equivalent) Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe. Orphanet ICD-10:F81.2 ICD-11:MB4C MeSH:D005862 MedDRA:10048608 UMLS:C0017494 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221117 Gerstmann syndrome ORPHA:221117 ICD-10:F81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:MB4C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005862 E (Exact mapping: the two concepts are equivalent) MedDRA:10048608 E (Exact mapping: the two concepts are equivalent) UMLS:C0017494 E (Exact mapping: the two concepts are equivalent) ASSA Aminopterin syndrome-like sine aminopterin Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. Orphanet ICD-10:Q82.0 ICD-11:LD24.GY MeSH:C535823 OMIM:600325 UMLS:C0795939 Antenatal Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221120 Pseudoaminopterin syndrome ORPHA:221120 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535823 E (Exact mapping: the two concepts are equivalent) OMIM:600325 E (Exact mapping: the two concepts are equivalent) UMLS:C0795939 E (Exact mapping: the two concepts are equivalent) Cerebral proliferative glomeruloid vasculopathy Encephaloclastic proliferative vasculopathy Hydrocephaly/hydranencephaly due to cerebral vasculopathy Proliferative vasculopathy and hydranencephaly/hydrocephaly A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported. Orphanet ICD-10:Q04.8 MedDRA:10071718 OMIM:225790 UMLS:C1856972 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 44.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221126 Fowler vasculopathy ORPHA:221126 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10071718 E (Exact mapping: the two concepts are equivalent) OMIM:225790 E (Exact mapping: the two concepts are equivalent) UMLS:C1856972 E (Exact mapping: the two concepts are equivalent) Roifman-Chitayat syndrome A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Orphanet ICD-10:Q87.8 ICD-11:4A01.1Y MeSH:C567641 OMIM:613328 UMLS:C2750068 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221139 Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567641 E (Exact mapping: the two concepts are equivalent) OMIM:613328 E (Exact mapping: the two concepts are equivalent) UMLS:C2750068 E (Exact mapping: the two concepts are equivalent) A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis. Orphanet ICD-10:L90.8 UMLS:C5680892 Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221142 Confetti-like macular atrophy ORPHA:221142 ICD-10:L90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680892 E (Exact mapping: the two concepts are equivalent) ARCL1C Autosomal recessive cutis laxa type 1C Urban-Rifkin-Davis syndrome A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Orphanet ICD-10:Q82.8 ICD-11:LD28.2 MeSH:C567716 OMIM:613177 UMLS:C2750804 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567716 E (Exact mapping: the two concepts are equivalent) OMIM:613177 E (Exact mapping: the two concepts are equivalent) UMLS:C2750804 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using CNTNAP2-related developmental and epileptic encephalopathy OBSOLETE: Pitt-Hopkins-like syndrome ORPHA:221150 1p36.12 ClinVar:C1QA Ensembl:ENSG00000173372 Genatlas:C1QA HGNC:1241 OMIM:120550 Reactome:P02745 SwissProt:P02745 C1QA complement C1q A chain 1p36.12 ClinVar:C1QB Ensembl:ENSG00000173369 Genatlas:C1QB HGNC:1242 OMIM:120570 Reactome:P02746 SwissProt:P02746 C1QB complement C1q B chain 1p36.12 ClinVar:C1QC Ensembl:ENSG00000159189 Genatlas:C1QC HGNC:1245 OMIM:120575 Reactome:P02747 SwissProt:P02747 C1QC complement C1q C chain 12p13.31 ClinVar:C1S Ensembl:ENSG00000182326 Genatlas:C1S HGNC:1247 IUPHAR:2335 OMIM:120580 Reactome:P09871 SwissProt:P09871 C1S complement C1s 11p13 16.3A5 CD59 glycoprotein EJ16 EJ30 EL32 G344 membrane attack complex inhibition factor membrane inhibitor of reactive lysis p18-20 ClinVar:CD59 Ensembl:ENSG00000085063 Genatlas:CD59 HGNC:1689 OMIM:107271 Reactome:P13987 SwissProt:P13987 CD59 CD59 molecule (CD59 blood group) 19q13.2 B-cell antigen receptor complex-associated protein alpha chain IGAlpha Ig-alpha MB-1 MB1 ClinVar:CD79A Ensembl:ENSG00000105369 Genatlas:CD79A HGNC:1698 OMIM:112205 Reactome:P11912 SwissProt:P11912 CD79A CD79a molecule 2p11.2 CD8alpha p32 ClinVar:CD8A Ensembl:ENSG00000153563 Genatlas:CD8A HGNC:1706 OMIM:186910 Reactome:P01732 SwissProt:P01732 CD8A CD8 subunit alpha 19p13.3 ADN adipsin ClinVar:CFD Ensembl:ENSG00000197766 Genatlas:CFD HGNC:2771 IUPHAR:2842 OMIM:134350 Reactome:P00746 SwissProt:P00746 CFD complement factor D 14q32.33 ClinVar:IGHG2 Ensembl:ENSG00000211893 Genatlas:IGHG2 HGNC:5526 OMIM:147110 Reactome:P01859 SwissProt:P01859 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) Bixler-Christian-Gorlin syndrome HMC syndrome Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Orphanet ICD-10:Q87.0 MeSH:C537632 OMIM:239800 UMLS:C0220742 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2213 Hypertelorism-microtia-facial clefting syndrome ORPHA:2213 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537632 E (Exact mapping: the two concepts are equivalent) OMIM:239800 E (Exact mapping: the two concepts are equivalent) UMLS:C0220742 E (Exact mapping: the two concepts are equivalent) 19p13.3 ClinVar:LMNB2 Ensembl:ENSG00000176619 Genatlas:LMNB2 HGNC:6638 OMIM:150341 Reactome:Q03252 SwissProt:Q03252 LMNB2 lamin B2 11q13.1 HSPC244 JBTS2 MGC13379 ClinVar:TMEM216 Ensembl:ENSG00000187049 Genatlas:TMEM216 HGNC:25018 OMIM:613277 Reactome:Q9P0N5 SwissProt:Q9P0N5 TMEM216 transmembrane protein 216 1p13.2 N-ras ClinVar:NRAS Ensembl:ENSG00000213281 Genatlas:NRAS HGNC:7989 IUPHAR:2823 OMIM:164790 Reactome:P01111 SwissProt:P01111 NRAS NRAS proto-oncogene, GTPase 2q11.2 Brr2 HELIC2 KIAA0788 U5 snRNP specific protein, 200 KD U5-200KD bad response to refrigeration 2 homolog (S. cerevisiae) ClinVar:SNRNP200 Ensembl:ENSG00000144028 Genatlas:SNRNP200 HGNC:30859 OMIM:601664 Reactome:O75643 SwissProt:O75643 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 18q21.1 FLJ32670 LH2D1 ClinVar:LOXHD1 Ensembl:ENSG00000167210 Genatlas:LOXHD1 HGNC:26521 OMIM:613072 SwissProt:Q8IVV2 LOXHD1 lipoxygenase homology PLAT domains 1 Froster-Iskenius-Waterson-Hall syndrome Malignant hyperthermia-arthrogryposis-torticollis syndrome An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:G71.8 OMIM:217150 UMLS:C4304748 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2215 Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:217150 E (Exact mapping: the two concepts are equivalent) UMLS:C4304748 E (Exact mapping: the two concepts are equivalent) A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. Orphanet ICD-10:Q86.8 ICD-11:LD2F.Y UMLS:C4707329 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2216 Maternal hyperthermia-induced birth defects ORPHA:2216 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707329 E (Exact mapping: the two concepts are equivalent) A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. Orphanet ICD-10:G60.0 ICD-11:LD27.3 OMIM:239840 UMLS:C4303793 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2218 Cervical hypertrichosis-peripheral neuropathy syndrome ORPHA:2218 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:239840 E (Exact mapping: the two concepts are equivalent) UMLS:C4303793 E (Exact mapping: the two concepts are equivalent) Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia. Orphanet ICD-10:L98.8 ICD-11:EG30.1 UMLS:C0406464 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=222 Erosive pustular dermatosis of the scalp ORPHA:222 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EG30.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0406464 E (Exact mapping: the two concepts are equivalent) Hairy elbows syndrome MacDermot-Patton-Williams syndrome Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. Orphanet ICD-10:Q84.2 ICD-11:LD27.0Y MeSH:C535618 MedDRA:10068636 OMIM:139600 UMLS:C1841696 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2220 Hypertrichosis cubiti ORPHA:2220 ICD-10:Q84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535618 E (Exact mapping: the two concepts are equivalent) MedDRA:10068636 E (Exact mapping: the two concepts are equivalent) OMIM:139600 E (Exact mapping: the two concepts are equivalent) UMLS:C1841696 E (Exact mapping: the two concepts are equivalent) A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. Orphanet ICD-10:L68.1 ICD-11:EL10 UMLS:C0343072 Not applicable Adult Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2221 Acquired hypertrichosis lanuginosa ORPHA:2221 ICD-10:L68.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EL10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0343072 E (Exact mapping: the two concepts are equivalent) Hypertrichosis universalis Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. Orphanet ICD-10:Q84.2 ICD-11:LD27.0Y MeSH:C538389 OMIM:145700 OMIM:145701 OMIM:307150 UMLS:C0235864 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2222 Hypertrichosis lanuginosa congenita ORPHA:2222 ICD-10:Q84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538389 E (Exact mapping: the two concepts are equivalent) OMIM:145700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:145701 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:307150 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0235864 E (Exact mapping: the two concepts are equivalent) A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association. Orphanet ICD-10:E70.8 ICD-11:5C50.3 MeSH:C563467 OMIM:600627 UMLS:C2931837 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2224 Hypertryptophanemia ORPHA:2224 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563467 E (Exact mapping: the two concepts are equivalent) OMIM:600627 E (Exact mapping: the two concepts are equivalent) UMLS:C2931837 E (Exact mapping: the two concepts are equivalent) UMLS:C5680891 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=222628 Hereditary poikiloderma Category ORPHA:222628 UMLS:C5680891 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Tooth agenesis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hypodontia ORPHA:2227 Hypodontia-nail dysgenesis syndrome Tooth and nail syndrome Witkop syndrome Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C536736 OMIM:189500 UMLS:C0406735 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2228 Hypodontia-dysplasia of nails syndrome ORPHA:2228 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536736 E (Exact mapping: the two concepts are equivalent) OMIM:189500 E (Exact mapping: the two concepts are equivalent) UMLS:C0406735 E (Exact mapping: the two concepts are equivalent) Cardiogenital syndrome Malouf syndrome Najjar syndrome This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Orphanet ICD-10:I42.0 MeSH:C535580 OMIM:212112 UMLS:C0796083 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535580 E (Exact mapping: the two concepts are equivalent) OMIM:212112 E (Exact mapping: the two concepts are equivalent) UMLS:C0796083 E (Exact mapping: the two concepts are equivalent) Nephrogenic diabetes insipidus A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Orphanet ICD-10:N25.1 ICD-11:GB90.4A MeSH:D018500 MedDRA:10029147 OMIM:125800 OMIM:304800 UMLS:C0162283 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 0.44 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=223 Arginine vasopressin resistance ORPHA:223 ICD-10:N25.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GB90.4A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018500 E (Exact mapping: the two concepts are equivalent) MedDRA:10029147 E (Exact mapping: the two concepts are equivalent) OMIM:125800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:304800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0162283 E (Exact mapping: the two concepts are equivalent) Salti-Salem syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Orphanet ICD-10:E23.0 UMLS:C4303079 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome ORPHA:2230 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303079 E (Exact mapping: the two concepts are equivalent) Al Awadi-Farag-Teebi syndrome A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mûllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partical scalp alopecia. Orphanet ICD-10:E28.3 ICD-10:E29.1 MeSH:C536949 OMIM:241090 UMLS:C2931374 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome ORPHA:2232 ICD-10:E28.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:E29.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536949 E (Exact mapping: the two concepts are equivalent) OMIM:241090 E (Exact mapping: the two concepts are equivalent) UMLS:C2931374 E (Exact mapping: the two concepts are equivalent) Cantalamessa-Baldini-Ambrosi syndrome This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. Orphanet ICD-10:Q87.8 MeSH:C537981 UMLS:C2931685 Unknown Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537981 E (Exact mapping: the two concepts are equivalent) UMLS:C2931685 E (Exact mapping: the two concepts are equivalent) Sohval-Soffer syndrome This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. Orphanet ICD-10:Q87.8 MeSH:C536679 OMIM:307500 UMLS:C2931285 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536679 E (Exact mapping: the two concepts are equivalent) OMIM:307500 E (Exact mapping: the two concepts are equivalent) UMLS:C2931285 E (Exact mapping: the two concepts are equivalent) 10q22.2 UPA URK ClinVar:PLAU Ensembl:ENSG00000122861 Genatlas:PLAU HGNC:9052 IUPHAR:2393 OMIM:191840 Reactome:P00749 SwissProt:P00749 PLAU plasminogen activator, urokinase Chang-Davidson-Carlson syndrome A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. Orphanet ICD-10:E23.0 MeSH:C538075 UMLS:C2931722 Unknown No data available Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). MeSH:C538075 E (Exact mapping: the two concepts are equivalent) UMLS:C2931722 E (Exact mapping: the two concepts are equivalent) 5q33.3 ICHYN NIPA4 SLC57A6 ichthyin ClinVar:NIPAL4 Ensembl:ENSG00000172548 Genatlas:NIPAL4 HGNC:28018 IUPHAR:3038 OMIM:609383 Reactome:Q0D2K0 SwissProt:Q0D2K0 NIPAL4 NIPA like domain containing 4 Barakat syndrome HDR syndrome Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C537907 MedDRA:10075281 OMIM:146255 UMLS:C1840333 Autosomal dominant All ages Worldwide AND has_cases/families_value : 180.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537907 E (Exact mapping: the two concepts are equivalent) MedDRA:10075281 E (Exact mapping: the two concepts are equivalent) OMIM:146255 E (Exact mapping: the two concepts are equivalent) UMLS:C1840333 E (Exact mapping: the two concepts are equivalent) OXPHOS disease ICD-11:5C53.2 UMLS:C5679825 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=223713 Mitochondrial oxidative phosphorylation disorder Category ORPHA:223713 ICD-11:5C53.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679825 E (Exact mapping: the two concepts are equivalent) MedDRA:10006007 UMLS:C1704327 Europe AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 9.29 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=223727 Bone sarcoma Clinical group ORPHA:223727 MedDRA:10006007 E (Exact mapping: the two concepts are equivalent) UMLS:C1704327 E (Exact mapping: the two concepts are equivalent) MeSH:D008223 MedDRA:10025310 UMLS:C0024299 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=223735 Lymphoma Category ORPHA:223735 MeSH:D008223 E (Exact mapping: the two concepts are equivalent) MedDRA:10025310 E (Exact mapping: the two concepts are equivalent) UMLS:C0024299 E (Exact mapping: the two concepts are equivalent) A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. Orphanet ICD-10:E20.8 ICD-11:5A50.0Y MeSH:C537156 OMIM:146200 OMIM:307700 OMIM:601198 OMIM:615361 UMLS:C1832648 Autosomal dominant Autosomal recessive X-linked recessive All ages Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2238 Familial isolated hypoparathyroidism ORPHA:2238 ICD-10:E20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537156 E (Exact mapping: the two concepts are equivalent) OMIM:146200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:307700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601198 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615361 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1832648 E (Exact mapping: the two concepts are equivalent) A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts. Orphanet ICD-10:E20.8 ICD-11:5A50.0Y OMIM:146200 OMIM:307700 UMLS:C5680706 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Clinical subtype ORPHA:2239 ICD-10:E20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:146200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:307700 E (Exact mapping: the two concepts are equivalent) UMLS:C5680706 E (Exact mapping: the two concepts are equivalent) Congenital diabetes mellitus Diabetes of infancy Monogenic diabetes of infancy NDM Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. Orphanet ICD-10:P70.2 ICD-11:KB60.2 MedDRA:10028933 UMLS:C0158981 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Austria AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 1.12 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=224 Neonatal diabetes mellitus Category ORPHA:224 ICD-10:P70.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB60.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10028933 E (Exact mapping: the two concepts are equivalent) UMLS:C0158981 E (Exact mapping: the two concepts are equivalent) Berdon syndrome MMIHS Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis. Orphanet ICD-10:Q43.8 ICD-11:LD2F.1Y MeSH:C536138 OMIM:249210 OMIM:619351 OMIM:619362 OMIM:619365 OMIM:619431 UMLS:C1608393 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 230.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241 ICD-10:Q43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536138 E (Exact mapping: the two concepts are equivalent) OMIM:249210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619351 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619362 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619365 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619431 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1608393 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum Hypopituitarism-micropenis-cleft lip/palate syndrome ORPHA:2243 Kaplowitz-Bodurtha syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum UMLS:C2931361 Hypopituitarism-microphthalmia syndrome ORPHA:2244 UMLS:C2931361 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome ORPHA:2245 Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. Orphanet ICD-10:Q04.3 ICD-11:LD20.0Y OMIM:213000 UMLS:C4275139 Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome ORPHA:2246 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:213000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4275139 E (Exact mapping: the two concepts are equivalent) HLHS A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output. Orphanet ICD-10:Q23.4 ICD-11:LA89.3 MeSH:D018636 MedDRA:10021076 OMIM:241550 OMIM:614435 UMLS:C0152101 Unknown Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 49.1 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 29.1 AND has_birth_prevalence_range : 1-5 / 10 000 China AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 56.8 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 15.1 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 11.8 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 23.8 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 19.9 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 18.1 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 9.9 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 49.8 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 16.4 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 9.2 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 12.5 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2248 Hypoplastic left heart syndrome ORPHA:2248 ICD-10:Q23.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA89.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018636 E (Exact mapping: the two concepts are equivalent) MedDRA:10021076 E (Exact mapping: the two concepts are equivalent) OMIM:241550 E (Exact mapping: the two concepts are equivalent) OMIM:614435 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0152101 E (Exact mapping: the two concepts are equivalent) Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Orphanet ICD-10:Q87.2 MeSH:C536934 OMIM:276821 UMLS:C4304398 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2249 Ulna hypoplasia-intellectual disability syndrome ORPHA:2249 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536934 E (Exact mapping: the two concepts are equivalent) OMIM:276821 E (Exact mapping: the two concepts are equivalent) UMLS:C4304398 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: MIDD NON RARE IN EUROPE: Maternally-inherited diabetes and hearing loss NON RARE IN EUROPE: Mitochondrial diabetes This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. MeSH:C536246 MedDRA:10086189 OMIM:520000 UMLS:C0342289 NON RARE IN EUROPE: Maternally-inherited diabetes and deafness ORPHA:225 MeSH:C536246 E (Exact mapping: the two concepts are equivalent) MedDRA:10086189 E (Exact mapping: the two concepts are equivalent) OMIM:520000 E (Exact mapping: the two concepts are equivalent) UMLS:C0342289 E (Exact mapping: the two concepts are equivalent) Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Orphanet ICD-10:Q87.0 OMIM:603457 UMLS:C4510568 Autosomal dominant Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:603457 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4510568 E (Exact mapping: the two concepts are equivalent) Sparse hair-short stature-skin anomalies syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q87.1 ICD-11:LD27.0Y MeSH:C536904 OMIM:188150 UMLS:C4749768 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2251 Thumb deformity-alopecia-pigmentation anomaly syndrome ORPHA:2251 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536904 E (Exact mapping: the two concepts are equivalent) OMIM:188150 E (Exact mapping: the two concepts are equivalent) UMLS:C4749768 E (Exact mapping: the two concepts are equivalent) Hereditary hemochromatosis type 3 A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. Orphanet ICD-10:E83.1 ICD-11:5C64.10 MeSH:C537248 OMIM:604250 UMLS:C1858664 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225123 TFR2-related hemochromatosis ORPHA:225123 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537248 E (Exact mapping: the two concepts are equivalent) OMIM:604250 E (Exact mapping: the two concepts are equivalent) UMLS:C1858664 E (Exact mapping: the two concepts are equivalent) ABSN Acute bilateral striatal necrosis Sporadic IBSN Sporadic infantile striatonigral degeneration Sporadic infantile striatonigral necrosis Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Orphanet ICD-10:G23.2 ICD-11:LD90.Y MedDRA:10077451 UMLS:C4087175 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225147 Sporadic infantile bilateral striatal necrosis ORPHA:225147 ICD-10:G23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10077451 E (Exact mapping: the two concepts are equivalent) UMLS:C4087175 E (Exact mapping: the two concepts are equivalent) Familial IBSN Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Orphanet ICD-10:G23.2 ICD-11:LD90.Y MedDRA:10077450 OMIM:271930 OMIM:500003 UMLS:C4087174 Autosomal dominant Autosomal recessive Mitochondrial inheritance Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225154 Familial infantile bilateral striatal necrosis ORPHA:225154 ICD-10:G23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10077450 E (Exact mapping: the two concepts are equivalent) OMIM:271930 E (Exact mapping: the two concepts are equivalent) OMIM:500003 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4087174 E (Exact mapping: the two concepts are equivalent) Schmitt-Gillenwater-Kelly syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Orphanet ICD-10:Q87.2 MeSH:C536262 OMIM:179250 UMLS:C1867397 Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome ORPHA:2252 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536262 E (Exact mapping: the two concepts are equivalent) OMIM:179250 E (Exact mapping: the two concepts are equivalent) UMLS:C1867397 E (Exact mapping: the two concepts are equivalent) 16q21 FLJ13154 HVSL motif containing 1 HVSL1 Mpn1 U six biogenesis 1 mutated in poikiloderma with neutropenia protein 1 poikiloderma with neutropenia ClinVar:HVSL1 Ensembl:ENSG00000103005 Genatlas:HVSL1 HGNC:25792 OMIM:613276 SwissProt:Q9BQ65 USB1 U6 snRNA biogenesis phosphodiesterase 1 19q13.2 FLJ46318 FLJ90018 LTBP-4 LTBP-4L ClinVar:LTBP4 Ensembl:ENSG00000090006 Genatlas:LTBP4 HGNC:6717 OMIM:604710 Reactome:Q8N2S1 SwissProt:Q8N2S1 LTBP4 latent transforming growth factor beta binding protein 4 15q13.3 CSNB1C LTRPC1 ClinVar:TRPM1 Ensembl:ENSG00000134160 Genatlas:TRPM1 HGNC:7146 IUPHAR:493 OMIM:603576 Reactome:Q7Z4N2 SwissProt:Q7Z4N2 TRPM1 transient receptor potential cation channel subfamily M member 1 9q34.3 ClinVar:CARD9 Ensembl:ENSG00000187796 Genatlas:CARD9 HGNC:16391 OMIM:607212 Reactome:Q9H257 SwissProt:Q9H257 CARD9 caspase recruitment domain family member 9 12p13.2 CD369 DECTIN-1 SCARE2 dectin-1 hDectin-1 ClinVar:CLEC7A Ensembl:ENSG00000172243 Genatlas:CLEC7A HGNC:14558 IUPHAR:2927 OMIM:606264 Reactome:Q9BXN2 SwissProt:Q9BXN2 CLEC7A C-type lectin domain containing 7A 15q21.3 FLJ38736 ClinVar:WDR72 Ensembl:ENSG00000166415 Genatlas:WDR72 HGNC:26790 OMIM:613214 SwissProt:Q3MJ13 WDR72 WD repeat domain 72 O'Donnell-Pappas syndrome A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Orphanet ICD-10:H26.0 ICD-11:9C2Y MeSH:C537858 OMIM:136520 UMLS:C2931644 Autosomal dominant Adult Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2253 Foveal hypoplasia-presenile cataract syndrome ORPHA:2253 ICD-10:H26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537858 E (Exact mapping: the two concepts are equivalent) OMIM:136520 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2931644 E (Exact mapping: the two concepts are equivalent) 1p31.1 NELIN nexilin ClinVar:NEXN Ensembl:ENSG00000162614 Genatlas:NEXN HGNC:29557 OMIM:613121 SwissProt:Q0ZGT2 NEXN nexilin F-actin binding protein 4p13 PPP1R88 protein phosphatase 1, regulatory subunit 88 ClinVar:GRXCR1 Ensembl:ENSG00000215203 Genatlas:GRXCR1 HGNC:31673 OMIM:613283 Reactome:A8MXD5 SwissProt:A8MXD5 GRXCR1 glutaredoxin and cysteine rich domain containing 1 Xq28 ClinVar:RAB39B Ensembl:ENSG00000155961 Genatlas:RAB39B HGNC:16499 OMIM:300774 Reactome:Q96DA2 SwissProt:Q96DA2 RAB39B RAB39B, member RAS oncogene family 6p21.31 MGC88819 S10 eS10 ClinVar:RPS10 Ensembl:ENSG00000124614 Genatlas:RPS10 HGNC:10383 OMIM:603632 Reactome:P46783 SwissProt:P46783 RPS10 ribosomal protein S10 12q13.2 40S ribosomal protein S26 S26 eS26 ClinVar:RPS26 Ensembl:ENSG00000197728 Genatlas:RPS26 HGNC:10414 OMIM:603701 Reactome:P62854 SwissProt:P62854 RPS26 ribosomal protein S26 7q31.31 NET-2 ClinVar:TSPAN12 Ensembl:ENSG00000106025 Genatlas:TSPAN12 HGNC:21641 OMIM:613138 SwissProt:O95859 TSPAN12 tetraspanin 12 5q35.1 FLJ20831 ClinVar:SH3PXD2B Ensembl:ENSG00000174705 Genatlas:SH3PXD2B HGNC:29242 OMIM:613293 SwissProt:A1X283 SH3PXD2B SH3 and PX domains 2B 19p13.2 ATP-dependent helicase SMARCA4 BAF190 BRG1 BRM/SWI2-related gene 1 FLJ39786 SNF2 SNF2-BETA SNF2-like 4 SNF2LB SWI2 brahma protein-like 1 global transcription activator homologous sequence hSNF2b homeotic gene regulator mitotic growth and transcription activator nuclear protein GRB1 sucrose nonfermenting-like 4 ClinVar:SMARCA4 Ensembl:ENSG00000127616 Genatlas:SMARCA4 HGNC:11100 IUPHAR:2740 OMIM:603254 Reactome:P51532 SwissProt:P51532 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 12q13.13 ClinVar:KRT6C Ensembl:ENSG00000170465 Genatlas:KRT6C HGNC:20406 OMIM:612315 Reactome:P48668 SwissProt:P48668 KRT6C keratin 6C 14q32.12 CEV14 GMAP-210 GMAP210 Trip230 golgi-microtubule-associated-protein of 210 kDa ClinVar:TRIP11 Ensembl:ENSG00000100815 Genatlas:TRIP11 HGNC:12305 OMIM:604505 Reactome:Q15643 SwissProt:Q15643 TRIP11 thyroid hormone receptor interactor 11 14q32.33 MGC13251 inverted formin 2 ClinVar:INF2 Ensembl:ENSG00000203485 Genatlas:INF2 HGNC:23791 OMIM:610982 SwissProt:Q27J81 INF2 inverted formin, FH2 and WH2 domain containing 16q22.2 ClinVar:DHODH Ensembl:ENSG00000102967 Genatlas:DHODH HGNC:2867 IUPHAR:2604 OMIM:126064 Reactome:Q02127 SwissProt:Q02127 DHODH dihydroorotate dehydrogenase (quinone) Norman disease PCH1 A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing Orphanet ICD-10:Q04.3 ICD-11:LD20.01 MeSH:C548069 OMIM:607596 OMIM:614678 OMIM:616081 OMIM:618065 OMIM:619303 OMIM:619304 UMLS:C5442006 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 40.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2254 Pontocerebellar hypoplasia type 1 ORPHA:2254 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548069 E (Exact mapping: the two concepts are equivalent) OMIM:607596 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614678 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616081 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618065 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619303 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619304 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5442006 E (Exact mapping: the two concepts are equivalent) 19q13.42 GPVI platelet glycoprotein VI ClinVar:GP6 Ensembl:ENSG00000088053 Genatlas:GP6 HGNC:14388 OMIM:605546 Reactome:Q9HCN6 SwissProt:Q9HCN6 GP6 glycoprotein VI platelet PACHD Pancreatic agenesis and congenital heart defects syndrome Yorifuji-Okuno syndrome A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Orphanet ICD-10:Q87.8 MeSH:C536714 OMIM:600001 UMLS:C2931296 Autosomal dominant All ages Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome ORPHA:2255 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536714 E (Exact mapping: the two concepts are equivalent) OMIM:600001 E (Exact mapping: the two concepts are equivalent) UMLS:C2931296 E (Exact mapping: the two concepts are equivalent) Saito-Kuba-Tsuruta syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Orphanet ICD-10:Q87.8 MeSH:C537226 OMIM:228940 UMLS:C1856727 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537226 E (Exact mapping: the two concepts are equivalent) OMIM:228940 E (Exact mapping: the two concepts are equivalent) UMLS:C1856727 E (Exact mapping: the two concepts are equivalent) UMLS:C5680898 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225681 Lysosomal disease with epilepsy Category ORPHA:225681 UMLS:C5680898 E (Exact mapping: the two concepts are equivalent) UMLS:C5680899 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225686 Peroxisomal disease with epilepsy Category ORPHA:225686 UMLS:C5680899 E (Exact mapping: the two concepts are equivalent) UMLS:C5680894 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225689 Amino acid or protein metabolism disease with epilepsy Category ORPHA:225689 UMLS:C5680894 E (Exact mapping: the two concepts are equivalent) UMLS:C5680895 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225692 Metal transport or utilization disorder with epilepsy Category ORPHA:225692 UMLS:C5680895 E (Exact mapping: the two concepts are equivalent) UMLS:C5680896 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225696 Energy metabolism disorder with epilepsy Category ORPHA:225696 UMLS:C5680896 E (Exact mapping: the two concepts are equivalent) Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. Orphanet ICD-10:Q33.6 ICD-11:LA75.2 OMIM:265430 UMLS:C0456891 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2257 Primary pulmonary hypoplasia ORPHA:2257 ICD-10:Q33.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:265430 E (Exact mapping: the two concepts are equivalent) UMLS:C0456891 E (Exact mapping: the two concepts are equivalent) UMLS:C5680897 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225700 Mitochondrial disease with epilepsy Category ORPHA:225700 UMLS:C5680897 E (Exact mapping: the two concepts are equivalent) UMLS:C5680900 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225703 Mitochondrial disease with peripheral neuropathy Category ORPHA:225703 UMLS:C5680900 E (Exact mapping: the two concepts are equivalent) UMLS:C5680901 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225707 Metabolic neurotransmission anomaly with epilepsy Category ORPHA:225707 UMLS:C5680901 E (Exact mapping: the two concepts are equivalent) UMLS:C5680902 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225710 Sterol metabolism disorder with epilepsy Category ORPHA:225710 UMLS:C5680902 E (Exact mapping: the two concepts are equivalent) UMLS:C5680903 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225713 Other metabolic disease with epilepsy Category ORPHA:225713 UMLS:C5680903 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary pulmonary hypoplasia OBSOLETE: Congenital unilateral pulmonary hypoplasia ORPHA:2258 OBSOLETE: Familial essential thrombocythemia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Essential thrombocythemia OBSOLETE: Inherited predisposition to essential thrombocythemia ORPHA:225968 Hyperphenylalaninemia due to dihydropteridine reductase deficiency PKU type 2 Phenylketonuria type 2 A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities. Orphanet ICD-10:E70.1 ICD-11:5C59.01 OMIM:261630 UMLS:C0268465 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226 Dihydropteridine reductase deficiency Clinical subtype ORPHA:226 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:261630 E (Exact mapping: the two concepts are equivalent) UMLS:C0268465 E (Exact mapping: the two concepts are equivalent) Oligomeganephronic renal hypoplasia A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. Orphanet ICD-10:Q60.4 ICD-11:LB30.4 UMLS:C0431694 Multigenic/multifactorial All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2260 Oligomeganephronia ORPHA:2260 ICD-10:Q60.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0431694 E (Exact mapping: the two concepts are equivalent) 16q24.3 CFEOM3 CFEOM3A beta-4 class III beta-tubulin ClinVar:TUBB3 Ensembl:ENSG00000258947 Genatlas:TUBB3 HGNC:20772 IUPHAR:2752 OMIM:602661 Reactome:Q13509 SwissProt:Q13509 TUBB3 tubulin beta 3 class III 5q13.3 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B ClinVar:PDE8B Ensembl:ENSG00000113231 Genatlas:PDE8B HGNC:8794 IUPHAR:1308 OMIM:603390 Reactome:O95263 SwissProt:O95263 PDE8B phosphodiesterase 8B 2p21 17-1A 323/A3 Ber-Ep4 BerEp4 CD326 CO-17A EGP-2 EGP34 EGP40 ESA Ep-CAM GA733-2 HEA125 KS1/4 KSA Ly74 MH99 MK-1 MOC-31 MOC31 TACST-1 TROP1 trophoblast cell surface antigen 1 ClinVar:EPCAM Ensembl:ENSG00000119888 Genatlas:EPCAM HGNC:11529 OMIM:185535 Reactome:P16422 SwissProt:P16422 EPCAM epithelial cell adhesion molecule Xp11.23 MRX96 ClinVar:SYP Ensembl:ENSG00000102003 Genatlas:SYP HGNC:11506 OMIM:313475 Reactome:P08247 SwissProt:P08247 SYP synaptophysin 3q27.1 CLC2 ClC-2 EJM6 ClinVar:CLCN2 Ensembl:ENSG00000114859 Genatlas:CLCN2 HGNC:2020 IUPHAR:699 OMIM:600570 Reactome:P51788 SwissProt:P51788 CLCN2 chloride voltage-gated channel 2 9q34.3 Eu-HMTase1 FLJ12879 FLJ40292 GLP KIAA1876 KMT1D bA188C12.1 ClinVar:EHMT1 Ensembl:ENSG00000181090 Genatlas:EHMT1 HGNC:24650 IUPHAR:2651 OMIM:607001 Reactome:Q9H9B1 SwissProt:Q9H9B1 EHMT1 euchromatic histone lysine methyltransferase 1 15q15.1 D4ST-1 HD4ST ClinVar:CHST14 Ensembl:ENSG00000169105 Genatlas:CHST14 HGNC:24464 OMIM:608429 Reactome:Q8NCH0 SwissProt:Q8NCH0 CHST14 carbohydrate sulfotransferase 14 Goldblatt-Wallis syndrome A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. Orphanet ICD-10:Q87.8 OMIM:241760 UMLS:C4274844 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2261 Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:241760 E (Exact mapping: the two concepts are equivalent) UMLS:C4274844 E (Exact mapping: the two concepts are equivalent) 1q24.2 CD3-ZETA CD3H CD3Q CD3ZETA T-cell surface glycoprotein CD3 zeta chain TCRZ ClinVar:CD247 Ensembl:ENSG00000198821 Genatlas:CD247 HGNC:1677 IUPHAR:3142 OMIM:186780 Reactome:P20963 SwissProt:P20963 CD247 CD247 molecule Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth. Orphanet ICD-11:5A00.0Y UMLS:C5680893 Autosomal recessive Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 33.3 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226292 Permanent congenital hypothyroidism Category ORPHA:226292 ICD-11:5A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680893 E (Exact mapping: the two concepts are equivalent) Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth. Orphanet UMLS:C3715197 Europe AND has_point_prevalence_average_value : 37.5 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 58.62 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226295 Primary congenital hypothyroidism Clinical group ORPHA:226295 UMLS:C3715197 E (Exact mapping: the two concepts are equivalent) Secondary hypothyroidism Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. Orphanet ICD-11:5A61.41 UMLS:C3665349 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226298 Central congenital hypothyroidism Clinical group ORPHA:226298 ICD-11:5A61.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3665349 E (Exact mapping: the two concepts are equivalent) Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Orphanet ICD-10:E03.1 ICD-11:5A00.01 UMLS:C4273672 Autosomal dominant Autosomal recessive Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function ORPHA:226307 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4273672 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Permanent congenital hypothyroidism OBSOLETE: Peripheral hypothyroidism ORPHA:226310 A rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth. Orphanet ICD-10:P72.2 ICD-11:5A00.03 UMLS:C5190849 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs ORPHA:226313 ICD-10:P72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190849 E (Exact mapping: the two concepts are equivalent) Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life. Orphanet ICD-10:P72.2 OMIM:607200 UMLS:C4749351 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226316 Genetic transient congenital hypothyroidism ORPHA:226316 ICD-10:P72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607200 E (Exact mapping: the two concepts are equivalent) UMLS:C4749351 E (Exact mapping: the two concepts are equivalent) Lopes-Marques de Faria syndrome A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q82.4 UMLS:C4509839 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2266 Hypotrichosis-intellectual disability, Lopes type ORPHA:2266 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509839 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Sidransky-Feinstein-Goodman syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal ichthyosis syndrome with other associated signs OBSOLETE: Ichthyosis-cheek-eyebrow syndrome ORPHA:2267 Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-centromeric instability-facial dysmorphism syndrome A rare autosomal recessive syndrome with combined immunodeficiency characterized by the clinical triad of immunodeficiency, centromeric instability and facial anomalies (abbreviated ICF syndrome). The immunodeficiency is with panhypogammaglobulinemia, and a lack of memory (CD19+CD27+) B cells in the peripheral blood, although B and T-cell counts are normal. Anomalies and rearrangements associated with DNA hypomethylation in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9, in mitogen-stimulated lymphocytes, is a hallmark of the syndrome. The typical facial anomalies include hypertelorism, low-set ears, epicanthus and macroglossia. Orphanet ICD-10:D84.8 ICD-11:4A01.00 OMIM:242860 OMIM:614069 OMIM:616910 OMIM:616911 UMLS:C0398788 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 66.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2268 ICF syndrome ORPHA:2268 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:242860 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614069 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616910 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616911 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0398788 E (Exact mapping: the two concepts are equivalent) Jagell-Holmgren-Hofer syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C537364 OMIM:242510 UMLS:C1855788 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537364 E (Exact mapping: the two concepts are equivalent) OMIM:242510 E (Exact mapping: the two concepts are equivalent) UMLS:C1855788 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed. Orphanet ICD-10:Q55.6 ICD-11:LB5Y UMLS:C0345322 Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227 Diphallia ORPHA:227 ICD-10:Q55.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LB5Y - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0345322 E (Exact mapping: the two concepts are equivalent) 20p13 RFT2 RFVT3 bA371L19.1 hRFT2 hypothetical protein LOC113278 ClinVar:SLC52A3 Ensembl:ENSG00000101276 Genatlas:SLC52A3 HGNC:16187 IUPHAR:2573 OMIM:613350 Reactome:Q9NQ40 SwissProt:Q9NQ40 SLC52A3 solute carrier family 52 member 3 14q24.3 CCT FLJ20371 MFSD7C SLC49A2 ClinVar:FLVCR2 Ensembl:ENSG00000119686 Genatlas:FLVCR2 HGNC:20105 IUPHAR:1911 OMIM:610865 SwissProt:Q9UPI3 FLVCR2 FLVCR choline and putative heme transporter 2 12p11.22 HHM PLP PTHR PTHRP osteostatin parathyroid hormone-like hormone preproprotein parathyroid hormone-related protein preproprotein ClinVar:PTHLH Ensembl:ENSG00000087494 Genatlas:PTHLH HGNC:9607 OMIM:168470 Reactome:P12272 SwissProt:P12272 PTHLH parathyroid hormone like hormone 9q34.3 FLJ90254 ClinVar:TPRN Ensembl:ENSG00000176058 Genatlas:TPRN HGNC:26894 OMIM:613354 Reactome:Q4KMQ1 SwissProt:Q4KMQ1 TPRN taperin 12q23.2 slow skeletal-type muscle myosin-binding-protein C ssMyBP-C ClinVar:MYBPC1 Ensembl:ENSG00000196091 Genatlas:MYBPC1 HGNC:7549 OMIM:160794 Reactome:Q00872 SwissProt:Q00872 MYBPC1 myosin binding protein C1 2q11.2 FLJ20507 FLJ22257 ClinVar:TMEM127 Ensembl:ENSG00000135956 Genatlas:TMEM127 HGNC:26038 OMIM:613403 SwissProt:O75204 TMEM127 transmembrane protein 127 22q13.2 APP3 ICP55 Intermediate Cleaving Peptidase 55 NPHPL1 ClinVar:XPNPEP3 Ensembl:ENSG00000196236 Genatlas:XPNPEP3 HGNC:28052 IUPHAR:1580 OMIM:613553 Reactome:Q9NQH7 SwissProt:Q9NQH7 XPNPEP3 X-prolyl aminopeptidase 3 17q21.2 CGL4 cavin-1 congenital generalized lipodystrophy 4 ClinVar:PTRF Ensembl:ENSG00000177469 Genatlas:PTRF HGNC:9688 OMIM:603198 Reactome:Q6NZI2 SwissProt:Q6NZI2 CAVIN1 caveolae associated protein 1 14q24.3 SPE-39 SPE39 Spermatogenesis-defective protein 39 homolog VIPAR VPS16B VPS33B interacting protein, apical-basolateral polarity regulator hSPE-39 ClinVar:VIPAR Ensembl:ENSG00000151445 Genatlas:VIPAR HGNC:20347 OMIM:613401 SwissProt:Q9H9C1 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog 11q13.5 HSP47 collagen binding protein 1 colligen colligin heat shock protein 47 ClinVar:SERPINH1 Ensembl:ENSG00000149257 Genatlas:SERPINH1 HGNC:1546 OMIM:600943 Reactome:P50454 SwissProt:P50454 SERPINH1 serpin family H member 1 Congenital ichthyosis-microcephalus-quadriplegia syndrome A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.8 UMLS:C5679626 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome ORPHA:2271 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679626 E (Exact mapping: the two concepts are equivalent) 19p13.2 Hunc18b MUNC18-2 UNC18B Unc18-2 ClinVar:STXBP2 Ensembl:ENSG00000076944 Genatlas:STXBP2 HGNC:11445 OMIM:601717 Reactome:Q15833 SwissProt:Q15833 STXBP2 syntaxin binding protein 2 Clayton Smith-Donnai syndrome Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. Orphanet ICD-10:Q87.8 ICD-11:LD27.2 OMIM:258840 UMLS:C4518538 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2272 Ichthyosis-oral and digital anomalies syndrome ORPHA:2272 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:258840 E (Exact mapping: the two concepts are equivalent) UMLS:C4518538 E (Exact mapping: the two concepts are equivalent) IFAP syndrome Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth. Orphanet ICD-10:Q80.8 ICD-11:LD27.2 MeSH:C536085 OMIM:308205 OMIM:619016 UMLS:C1839988 Autosomal dominant Not applicable X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2273 Ichthyosis follicularis-alopecia-photophobia syndrome ORPHA:2273 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536085 E (Exact mapping: the two concepts are equivalent) OMIM:308205 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619016 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1839988 E (Exact mapping: the two concepts are equivalent) 8p23.1 MGC10442 ClinVar:BLK Ensembl:ENSG00000136573 Genatlas:BLK HGNC:1057 IUPHAR:1940 OMIM:191305 Reactome:P51451 SwissProt:P51451 BLK BLK proto-oncogene, Src family tyrosine kinase 5q11.2 HSPL27 ClinVar:HSPB3 Ensembl:ENSG00000169271 Genatlas:HSPB3 HGNC:5248 OMIM:604624 SwissProt:Q12988 HSPB3 heat shock protein family B (small) member 3 5q35.3 NAPI-3 NPTIIa Na+-phosphate cotransporter type II SLC11 sodium/phosphate co-transporter solute carrier family 17 (sodium phosphate), member 2 ClinVar:SLC34A1 Ensembl:ENSG00000131183 Genatlas:SLC34A1 HGNC:11019 IUPHAR:1135 OMIM:182309 Reactome:Q06495 SwissProt:Q06495 SLC34A1 solute carrier family 34 member 1 12q21.31 phosphatidylinositol phosphatase PTPRQ ClinVar:PTPRQ Ensembl:ENSG00000139304 Genatlas:PTPRQ HGNC:9679 IUPHAR:1864 OMIM:603317 SwissProt:Q9UMZ3 PTPRQ protein tyrosine phosphatase receptor type Q Dykes-Marks-Harper syndrome Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. Orphanet ICD-10:Q87.8 MeSH:C535727 OMIM:242520 UMLS:C1275088 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome ORPHA:2274 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535727 E (Exact mapping: the two concepts are equivalent) OMIM:242520 E (Exact mapping: the two concepts are equivalent) UMLS:C1275088 E (Exact mapping: the two concepts are equivalent) 17q11.2 HRG4 POC7 POC7 centriolar protein homolog A (Chlamydomonas) POC7A ClinVar:UNC119 Ensembl:ENSG00000109103 Genatlas:UNC119 HGNC:12565 IUPHAR:3011 OMIM:604011 Reactome:Q13432 SwissProt:Q13432 UNC119 unc-119 lipid binding chaperone MSA, cerebellar type MSA-c Sporadic OPCA type 1 Sporadic olivopontocerebellar atrophy type 1 Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). Orphanet ICD-10:G23.3 ICD-11:8D87.00 UMLS:C5554234 Not applicable Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227510 Multiple system atrophy, cerebellar type Clinical subtype ORPHA:227510 ICD-10:G23.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8D87.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5554234 E (Exact mapping: the two concepts are equivalent) Familial breast cancer Familial breast carcinoma Hereditary breast carcinoma A rare genetic, malignant breast tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of <i>BRCA1</i> and <i>BRCA2</i> mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most <i>BRCA1</i>-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, <i>BRCA2</i>-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression. Orphanet ICD-10:C50.0 ICD-10:C50.1 ICD-10:C50.2 ICD-10:C50.3 ICD-10:C50.4 ICD-10:C50.5 ICD-10:C50.6 ICD-10:C50.8 ICD-11:2C6Y MeSH:C562840 OMIM:114480 OMIM:604370 OMIM:612555 OMIM:613399 UMLS:C0346153 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227535 Hereditary breast cancer ORPHA:227535 ICD-10:C50.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C50.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562840 E (Exact mapping: the two concepts are equivalent) OMIM:114480 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:604370 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:612555 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613399 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0346153 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Hereditary flecked retinopathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited retinal disorder OBSOLETE: Familial flecked retinopathy ORPHA:227786 Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C562733 OMIM:136880 UMLS:C0311338 Autosomal dominant Autosomal recessive Childhood Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227796 Fundus albipunctatus ORPHA:227796 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562733 E (Exact mapping: the two concepts are equivalent) OMIM:136880 E (Exact mapping: the two concepts are equivalent) UMLS:C0311338 E (Exact mapping: the two concepts are equivalent) Passwell-Goodman-Siprkowski syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Orphanet ICD-10:Q87.1 MeSH:C536274 OMIM:242530 UMLS:C4518580 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536274 E (Exact mapping: the two concepts are equivalent) OMIM:242530 E (Exact mapping: the two concepts are equivalent) UMLS:C4518580 E (Exact mapping: the two concepts are equivalent) Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. Orphanet ICD-10:X46 MedDRA:10051222 UMLS:C0409998 Not applicable All ages Worldwide AND has_cases/families_value : 20000.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227972 Toxic oil syndrome ORPHA:227972 ICD-10:X46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10051222 E (Exact mapping: the two concepts are equivalent) UMLS:C0409998 E (Exact mapping: the two concepts are equivalent) A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. Orphanet ICD-10:H47.2 OMIM:612989 UMLS:C5190807 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227976 Autosomal recessive optic atrophy, OPA7 type ORPHA:227976 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612989 E (Exact mapping: the two concepts are equivalent) UMLS:C5190807 E (Exact mapping: the two concepts are equivalent) APS type 3 APS3 Autoimmune polyendocrine syndrome type 3 Autoimmune polyglandular syndrome type 3 A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. Orphanet ICD-10:E31.0 ICD-11:5B00 UMLS:C1535942 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227982 Autoimmune polyendocrinopathy type 3 ORPHA:227982 ICD-10:E31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1535942 E (Exact mapping: the two concepts are equivalent) APS type 4 APS4 Autoimmune polyendocrine syndrome type 4 Autoimmune polyglandular syndrome type 4 A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism. Orphanet ICD-10:E31.0 ICD-11:5B00 UMLS:C3266026 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=227990 Autoimmune polyendocrinopathy type 4 ORPHA:227990 ICD-10:E31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3266026 E (Exact mapping: the two concepts are equivalent) Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. Orphanet ICD-10:D72.8 ICD-11:4A00.2 MedDRA:10083934 OMIM:615518 UMLS:C4706550 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228000 Idiopathic CD4 lymphocytopenia ORPHA:228000 ICD-10:D72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10083934 E (Exact mapping: the two concepts are equivalent) OMIM:615518 E (Exact mapping: the two concepts are equivalent) UMLS:C4706550 E (Exact mapping: the two concepts are equivalent) SCID due to CORO1A deficiency SCID due to coronin-1A deficiency Severe combined immunodeficiency due to coronin-1A deficiency A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder). Orphanet ICD-10:D81.2 ICD-11:4A01.10 OMIM:615401 UMLS:C3809383 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228003 Severe combined immunodeficiency due to CORO1A deficiency ORPHA:228003 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615401 E (Exact mapping: the two concepts are equivalent) UMLS:C3809383 E (Exact mapping: the two concepts are equivalent) Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. Orphanet ICD-10:H90.3 OMIM:606346 UMLS:C4304831 Autosomal dominant All ages Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606346 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304831 E (Exact mapping: the two concepts are equivalent) A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. Males are more often affected than females. Orphanet ICD-10:K60.3 ICD-11:DB50.1 MedDRA:10002156 UMLS:C0205929 Not applicable All ages Europe AND has_point_prevalence_average_value : 18.3 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 18.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228113 Anal fistula ORPHA:228113 ICD-10:K60.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB50.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002156 E (Exact mapping: the two concepts are equivalent) UMLS:C0205929 E (Exact mapping: the two concepts are equivalent) Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. Orphanet ICD-10:I28.8 ICD-11:4A44.Y UMLS:C4303478 Not applicable Adult Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228116 Hughes-Stovin syndrome ORPHA:228116 ICD-10:I28.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303478 E (Exact mapping: the two concepts are equivalent) Fusarium infection Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, <i>Fusarium</i>, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections. Orphanet ICD-10:B48.7 ICD-11:1F2Z MeSH:D060585 MedDRA:10051919 UMLS:C0276758 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228119 Fusariosis ORPHA:228119 ICD-10:B48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:1F2Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D060585 E (Exact mapping: the two concepts are equivalent) MedDRA:10051919 E (Exact mapping: the two concepts are equivalent) UMLS:C0276758 E (Exact mapping: the two concepts are equivalent) California disease Coccidioides infection Desert fever Desert rheumatism San Joaquin valley fever Valley fever Coccidioidomycosis is a fungal infection caused by <i>Coccidioides immitis</i> and <i>C. posadasii</i>, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement. Orphanet ICD-10:B38.0 ICD-10:B38.1 ICD-10:B38.2 ICD-10:B38.3 ICD-10:B38.4 ICD-10:B38.7 ICD-10:B38.8 ICD-10:B38.9 ICD-11:1F25 ICD-11:1F25.0 ICD-11:1F25.00 ICD-11:1F25.01 ICD-11:1F25.1 ICD-11:1F25.10 ICD-11:1F25.11 ICD-11:1F25.12 ICD-11:1F25.1Y MeSH:D003047 MedDRA:10009825 UMLS:C0009186 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228123 Coccidioidomycosis ORPHA:228123 ICD-10:B38.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B38.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B38.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B38.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B38.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B38.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B38.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B38.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.00 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.01 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.10 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.11 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.12 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F25.1Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003047 E (Exact mapping: the two concepts are equivalent) MedDRA:10009825 E (Exact mapping: the two concepts are equivalent) UMLS:C0009186 E (Exact mapping: the two concepts are equivalent) Familial paroxysmal ventricular fibrillation, non Brugada type A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence. Orphanet ICD-10:I49.0 OMIM:603829 OMIM:612956 UMLS:C5679832 Autosomal dominant Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228140 Idiopathic ventricular fibrillation, non Brugada type ORPHA:228140 ICD-10:I49.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:603829 E (Exact mapping: the two concepts are equivalent) OMIM:612956 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679832 E (Exact mapping: the two concepts are equivalent) UMLS:C5680912 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228145 Multiple sclerosis variant Category ORPHA:228145 UMLS:C5680912 E (Exact mapping: the two concepts are equivalent) Acute multiple sclerosis, Marburg type Acute multiple sclerosis, Marburg variant Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. Orphanet ICD-10:G35 ICD-11:8A4Y UMLS:C4707723 Multigenic/multifactorial Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228157 Marburg acute multiple sclerosis ORPHA:228157 ICD-10:G35 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707723 E (Exact mapping: the two concepts are equivalent) Concentric demyelination A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia. Orphanet ICD-10:G37.5 ICD-11:8A40.Y MedDRA:10010252 UMLS:C0004712 Multigenic/multifactorial Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228165 Baló concentric sclerosis ORPHA:228165 ICD-10:G37.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10010252 E (Exact mapping: the two concepts are equivalent) UMLS:C0004712 E (Exact mapping: the two concepts are equivalent) ADSD An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. Orphanet ICD-10:G31.8 OMIM:609161 UMLS:C4511004 Autosomal dominant Adult Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228169 Autosomal dominant striatal neurodegeneration ORPHA:228169 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609161 E (Exact mapping: the two concepts are equivalent) UMLS:C4511004 E (Exact mapping: the two concepts are equivalent) CMT2N A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C567653 OMIM:613287 UMLS:C2750090 Autosomal dominant All ages Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N ORPHA:228174 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567653 E (Exact mapping: the two concepts are equivalent) OMIM:613287 E (Exact mapping: the two concepts are equivalent) UMLS:C2750090 E (Exact mapping: the two concepts are equivalent) CMT2M A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. Orphanet ICD-10:G60.0 ICD-11:8C20.1 OMIM:606482 UMLS:C4304672 Autosomal dominant All ages Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M ORPHA:228179 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606482 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304672 E (Exact mapping: the two concepts are equivalent) Atriodigital dysplasia Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms). Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228184 Heart-hand syndrome Category ORPHA:228184 Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Orphanet ICD-10:Q87.2 OMIM:604381 UMLS:C4302746 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604381 E (Exact mapping: the two concepts are equivalent) UMLS:C4302746 E (Exact mapping: the two concepts are equivalent) Dysmorphism-short stature-deafness-disorder of sex development syndrome Dysmorphism-short stature-hearing loss-disorder of sex development syndrome Ieshima-Koeda-Inagaki syndrome Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. Orphanet ICD-10:Q87.8 UMLS:C4518561 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2282 Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518561 E (Exact mapping: the two concepts are equivalent) UMLS:C5680909 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228215 Genetic dermis elastic tissue disorder Category ORPHA:228215 UMLS:C5680909 E (Exact mapping: the two concepts are equivalent) UMLS:C5680908 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228218 Acquired dermis elastic tissue disorder Category ORPHA:228218 UMLS:C5680908 E (Exact mapping: the two concepts are equivalent) UMLS:C5680911 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228221 Acquired dermis elastic tissue disorder with decreased elastic tissue Category ORPHA:228221 UMLS:C5680911 E (Exact mapping: the two concepts are equivalent) UMLS:C5680910 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228224 Acquired dermis elastic tissue disorder with increased elastic tissue Category ORPHA:228224 UMLS:C5680910 E (Exact mapping: the two concepts are equivalent) PXE-like late-onset focal dermal elastosis Pseudoxanthoma-like late-onset focal dermal elastosis Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits. Orphanet ICD-10:L98.8 UMLS:C4751167 Not applicable Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228227 Late-onset focal dermal elastosis ORPHA:228227 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751167 E (Exact mapping: the two concepts are equivalent) Elastotic striae Linear focal dermal elastosis Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis. Orphanet ICD-10:L98.8 UMLS:C4751166 Not applicable All ages Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228236 Linear focal elastosis ORPHA:228236 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751166 E (Exact mapping: the two concepts are equivalent) An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed. Orphanet ICD-10:L98.8 ICD-11:EE41.Y UMLS:C0406555 Not applicable Adolescent Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228240 Elastoderma ORPHA:228240 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406555 E (Exact mapping: the two concepts are equivalent) Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases. Orphanet ICD-10:L98.8 UMLS:C0346042 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228243 Elastofibroma dorsi ORPHA:228243 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0346042 E (Exact mapping: the two concepts are equivalent) Acquired Gronblad-Strandberg-Touraine syndrome Acquired PXE A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia. Orphanet ICD-10:L98.8 ICD-11:EE41.Y UMLS:C1274759 Not applicable Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228247 Acquired pseudoxanthoma elasticum ORPHA:228247 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1274759 E (Exact mapping: the two concepts are equivalent) Juvenile elastoma without osteopoikilosis Nevus elasticus Weidman juvenile elastoma A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed. Orphanet ICD-10:Q82.8 ICD-11:LC2Y UMLS:C0473583 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228254 Elastoma ORPHA:228254 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LC2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0473583 E (Exact mapping: the two concepts are equivalent) A rare, acquired, dermis elastic tissue disorder characterized by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis. Orphanet ICD-10:L98.8 ICD-11:EE41.Y UMLS:C5680907 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228264 Papular elastorrhexis ORPHA:228264 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680907 E (Exact mapping: the two concepts are equivalent) Primary macular atrophy Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause. Orphanet ICD-10:L90.1 ICD-10:L90.2 ICD-11:EE41.1 MeSH:D057088 UMLS:C0406550 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228272 Primary anetoderma ORPHA:228272 ICD-10:L90.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:L90.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EE41.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D057088 E (Exact mapping: the two concepts are equivalent) UMLS:C0406550 E (Exact mapping: the two concepts are equivalent) Hereditary anetoderma Hereditary macular atrophy Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. Orphanet ICD-10:L90.8 ICD-11:EE41.1 UMLS:C4518793 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 12.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228277 Familial anetoderma ORPHA:228277 ICD-10:L90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518793 E (Exact mapping: the two concepts are equivalent) Cutis laxa acquisita ICD-10:L98.8 ICD-11:EE41.0 UMLS:C0406549 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228285 Acquired cutis laxa ORPHA:228285 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406549 E (Exact mapping: the two concepts are equivalent) White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. Orphanet ICD-10:L98.8 ICD-11:EE41.Y UMLS:C4706484 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228290 White fibrous papulosis of the neck ORPHA:228290 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706484 E (Exact mapping: the two concepts are equivalent) PXE-like papillary dermal elastolysis Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement. Orphanet ICD-10:L98.8 ICD-11:EE41.Y UMLS:C4049455 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis ORPHA:228293 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4049455 E (Exact mapping: the two concepts are equivalent) A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions. Orphanet ICD-10:L98.8 ICD-11:EE41.Y MedDRA:10081688 UMLS:C4728147 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228299 Mid-dermal elastolysis ORPHA:228299 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081688 E (Exact mapping: the two concepts are equivalent) UMLS:C4728147 E (Exact mapping: the two concepts are equivalent) CPT2, adult-onset form CPT2, myopathic form CPTII, adult-onset form CPTII, myopathic form Carnitine palmitoyl transferase II deficiency, adult-onset form Carnitine palmitoyl transferase deficiency type 2, adult-onset form Carnitine palmitoyl transferase deficiency type 2, myopathic form The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term). Orphanet ICD-10:E71.3 ICD-11:5C52.00 MeSH:C563461 OMIM:255110 UMLS:C1833508 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228302 Carnitine palmitoyl transferase II deficiency, myopathic form Clinical subtype ORPHA:228302 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563461 E (Exact mapping: the two concepts are equivalent) OMIM:255110 E (Exact mapping: the two concepts are equivalent) UMLS:C1833508 E (Exact mapping: the two concepts are equivalent) CPT2, hepatocardiomuscular form CPT2, severe infantile form CPTII, hepatocardiomuscular form CPTII, severe infantile form Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, severe infantile form The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Orphanet ICD-10:E71.3 ICD-11:5C52.00 MeSH:C563462 OMIM:600649 UMLS:C1833511 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228305 Carnitine palmitoyl transferase II deficiency, severe infantile form Clinical subtype ORPHA:228305 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563462 E (Exact mapping: the two concepts are equivalent) OMIM:600649 E (Exact mapping: the two concepts are equivalent) UMLS:C1833511 E (Exact mapping: the two concepts are equivalent) CPT2, lethal systemic form CPT2, neonatal form CPTII, lethal systemic form CPTII, neonatal form Carnitine palmitoyl transferase II deficiency, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, neonatal form The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. Orphanet ICD-10:E71.3 ICD-11:5C52.00 MeSH:C563463 OMIM:608836 UMLS:C1833518 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228308 Carnitine palmitoyl transferase II deficiency, neonatal form Clinical subtype ORPHA:228308 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563463 E (Exact mapping: the two concepts are equivalent) OMIM:608836 E (Exact mapping: the two concepts are equivalent) UMLS:C1833518 E (Exact mapping: the two concepts are equivalent) Cold AIHA cAHA cAIHA Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms). Orphanet ICD-11:3A20.1 MedDRA:10009868 Multigenic/multifactorial All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228312 Autoimmune hemolytic anemia, cold type Clinical group ORPHA:228312 ICD-11:3A20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10009868 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic hypersomnia OBSOLETE: Idiopathic hypersomnia with long sleep time ORPHA:228315 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic hypersomnia OBSOLETE: Idiopathic hypersomnia without long sleep time ORPHA:228318 Haltia-Santavuori disease Neuronal ceroid lipofuscinosis type 1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228329 CLN1 disease ORPHA:228329 CNCL Neuronal ceroid lipofuscinosis type 10 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228337 CLN10 disease ORPHA:228337 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using CLN6 disease OBSOLETE: CLN4A disease ORPHA:228340 CLN4B disease Neuronal ceroid lipofuscinosis type 4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228343 CLN4 disease ORPHA:228343 Batten-Spielmeyer-Vogt-Sjögren disease Classic juvenile NCL Classic juvenile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228346 CLN3 disease ORPHA:228346 Neuronal ceroid lipofuscinosis type 2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228349 CLN2 disease ORPHA:228349 Neuronal ceroid lipofuscinosis type 8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228354 CLN8 disease ORPHA:228354 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis OBSOLETE: CLN9 disease ORPHA:228357 Neuronal ceroid lipofuscinosis type 5 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228360 CLN5 disease ORPHA:228360 Neuronal ceroid lipofuscinosis type 6 vLINCL https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228363 CLN6 disease ORPHA:228363 Neuronal ceroid lipofuscinosis type 7 Turkish variant late infantile vLINCL https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228366 CLN7 disease ORPHA:228366 Intoxication botulism Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs. Orphanet ICD-10:A05.1 ICD-11:1A11.0 UMLS:C1739094 All ages Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228371 Foodborne botulism Clinical subtype ORPHA:228371 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1A11.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1739094 E (Exact mapping: the two concepts are equivalent) AR-CMT2B5 Autosomal recessive Charcot-Marie-Tooth disease type 2B5 SEOAN due to NEFL deficiency Severe early-onset axonal neuropathy due to NEFL deficiency Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. Orphanet ICD-10:G60.0 ICD-11:8C20.1 OMIM:607734 UMLS:C4749824 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228374 Charcot-Marie-Tooth disease type 2B5 ORPHA:228374 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607734 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4749824 E (Exact mapping: the two concepts are equivalent) Cyclosporine-induced folliculodystrophy Pilomatrix dysplasia TS Trichodysplasia spinulosa VATS Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. Orphanet ICD-10:L08.8 ICD-11:ED5Y UMLS:C3267126 Not applicable All ages Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228379 Virus-associated trichodysplasia spinulosa ORPHA:228379 ICD-10:L08.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3267126 E (Exact mapping: the two concepts are equivalent) Del(5)(q14.3) Monosomy 5q14.3 The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Orphanet ICD-10:Q93.5 ICD-11:LD44.50 OMIM:613443 UMLS:C4304529 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228384 5q14.3 microdeletion syndrome Etiological subtype ORPHA:228384 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613443 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304529 E (Exact mapping: the two concepts are equivalent) A rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. Orphanet ICD-10:Q77.7 MeSH:C567639 OMIM:613330 UMLS:C2750066 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228387 Spondylo-megaepiphyseal-metaphyseal dysplasia ORPHA:228387 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567639 E (Exact mapping: the two concepts are equivalent) OMIM:613330 E (Exact mapping: the two concepts are equivalent) UMLS:C2750066 E (Exact mapping: the two concepts are equivalent) ALX4-related FNDAG Craniofrontonasal dysplasia with alopecia and hypogonadism Frontonasal dysplasia type 2 Frontonasal dysplasia with alopecia and genital abnomality A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Orphanet ICD-10:Q87.0 OMIM:613451 UMLS:C4510728 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613451 E (Exact mapping: the two concepts are equivalent) UMLS:C4510728 E (Exact mapping: the two concepts are equivalent) A rare opthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telechantus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. Orphanet ICD-10:Q87.0 UMLS:C4510249 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome ORPHA:228396 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510249 E (Exact mapping: the two concepts are equivalent) Dup(8)(q12) Trisomy 8q12 The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term). Orphanet ICD-10:Q92.3 ICD-11:LD41.70 UMLS:C4304504 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228399 8q12 microduplication syndrome ORPHA:228399 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304504 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary immunodeficiency due to a defect in adaptive immunity OBSOLETE: Primary T cell immunodeficiency ORPHA:2284 Del(2)(q23.1) Monosomy 2q23.1 Pseudo-Angelman syndrome The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. Orphanet ICD-10:Q93.5 ICD-11:LD44.20 OMIM:156200 UMLS:C4304532 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228402 2q23.1 microdeletion syndrome ORPHA:228402 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:156200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304532 E (Exact mapping: the two concepts are equivalent) TMCO1 defect syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cerebrofaciothoracic dysplasia OMIM:213980 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome ORPHA:228407 OMIM:213980 E (Exact mapping: the two concepts are equivalent) PHD syndrome Polyvalvular heart disease syndrome TAB2-related syndrome A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. Orphanet ICD-10:Q87.8 UMLS:C4509918 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509918 E (Exact mapping: the two concepts are equivalent) Dup(5)(q35) Trisomy 5q35 The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Orphanet ICD-10:Q92.3 ICD-11:LD41.40 UMLS:C4304526 Not applicable Unknown Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228415 5q35 microduplication syndrome ORPHA:228415 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304526 E (Exact mapping: the two concepts are equivalent) OBSOLETE: MCSZ This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early infantile epileptic encephalopathy OBSOLETE: Microcephaly-seizures-developmental delay syndrome ORPHA:228418 GATA binding protein 2 deficiency spectrum A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated. Orphanet ICD-10:D72.8 ICD-11:4A00.2 OMIM:614172 UMLS:C3280030 Autosomal dominant Not applicable Adult Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228423 GATA2 deficiency spectrum ORPHA:228423 ICD-10:D72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614172 E (Exact mapping: the two concepts are equivalent) UMLS:C3280030 E (Exact mapping: the two concepts are equivalent) A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Orphanet ICD-10:D89.8 ICD-11:4A43.Y OMIM:613385 UMLS:C4755273 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228426 Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613385 E (Exact mapping: the two concepts are equivalent) UMLS:C4755273 E (Exact mapping: the two concepts are equivalent) GCL4 Generalized congenital lipodystrophy type 4 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital generalized lipodystrophy OMIM:613327 UMLS:C2750069 Generalized congenital lipodystrophy with myopathy ORPHA:228429 OMIM:613327 E (Exact mapping: the two concepts are equivalent) UMLS:C2750069 E (Exact mapping: the two concepts are equivalent) Bull-Nixon syndrome A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction. Orphanet ICD-10:Q75.8 OMIM:109500 UMLS:C5679631 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2285 Primary basilar invagination ORPHA:2285 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:109500 E (Exact mapping: the two concepts are equivalent) UMLS:C5679631 E (Exact mapping: the two concepts are equivalent) OBSOLETE: SMMCI OBSOLETE: Single upper central incisor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Microform holoprosencephaly OBSOLETE: Solitary median maxillary central incisor syndrome ORPHA:2286 Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure. Orphanet ICD-10:K00.2 ICD-11:LA30.4 OMIM:147251 UMLS:C3494175 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2287 Fused mandibular incisors ORPHA:2287 ICD-10:K00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:147251 E (Exact mapping: the two concepts are equivalent) UMLS:C3494175 E (Exact mapping: the two concepts are equivalent) Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Orphanet ICD-10:G31.0 ICD-11:8A0Y MeSH:C537395 MedDRA:10084235 OMIM:603472 UMLS:C1863843 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2289 Neuronal intranuclear inclusion disease ORPHA:2289 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537395 E (Exact mapping: the two concepts are equivalent) MedDRA:10084235 E (Exact mapping: the two concepts are equivalent) OMIM:603472 E (Exact mapping: the two concepts are equivalent) UMLS:C1863843 E (Exact mapping: the two concepts are equivalent) Annuloaortic ectasia Cystic medial necrosis of aorta Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner. Orphanet ICD-10:I71.0 ICD-11:BD50.Z OMIM:607086 UMLS:C0345050 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=229 Familial aortic dissection ORPHA:229 ICD-10:I71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD50.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607086 E (Exact mapping: the two concepts are equivalent) UMLS:C0345050 E (Exact mapping: the two concepts are equivalent) Congenital microvillous atrophy Congenital microvillus atrophy MVID Microvillous inclusion disease Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium. Orphanet ICD-10:P78.3 ICD-11:DA90.Y MeSH:C537470 MedDRA:10068494 OMIM:251850 OMIM:619445 UMLS:C0341306 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 137.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2290 Microvillus inclusion disease ORPHA:2290 ICD-10:P78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537470 E (Exact mapping: the two concepts are equivalent) MedDRA:10068494 E (Exact mapping: the two concepts are equivalent) OMIM:251850 E (Exact mapping: the two concepts are equivalent) OMIM:619445 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0341306 E (Exact mapping: the two concepts are equivalent) A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech. Orphanet ICD-10:J39.2 ICD-11:LA50 OMIM:167500 UMLS:C1997202 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2291 Congenital velopharyngeal incompetence ORPHA:2291 ICD-10:J39.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:167500 E (Exact mapping: the two concepts are equivalent) UMLS:C1997202 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Campomelic dysplasia and related disorders OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome ORPHA:2292 Familial joint instability syndrome Familial joint laxity Joint instability syndrome A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent. Orphanet ICD-10:Q79.6 ICD-11:LD28.Y MeSH:C535884 OMIM:147900 UMLS:C0268349 Autosomal dominant Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2295 Familial articular hypermobility syndrome ORPHA:2295 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535884 E (Exact mapping: the two concepts are equivalent) OMIM:147900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268349 E (Exact mapping: the two concepts are equivalent) Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. Orphanet ICD-10:E34.8 ICD-11:5A44 OMIM:610549 UMLS:C0342336 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2297 Insulin-resistance syndrome type A ORPHA:2297 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610549 E (Exact mapping: the two concepts are equivalent) UMLS:C0342336 E (Exact mapping: the two concepts are equivalent) Isolated hypogammaglobulinemia Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Orphanet ICD-10:D80.0 ICD-11:4A01.00 OMIM:300310 OMIM:300755 OMIM:601495 OMIM:612692 OMIM:613500 OMIM:613501 OMIM:613502 OMIM:613506 OMIM:615214 OMIM:616941 UMLS:C4707181 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=229717 Isolated agammaglobulinemia ORPHA:229717 ICD-10:D80.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300755 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601495 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612692 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613501 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613502 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613506 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615214 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616941 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707181 E (Exact mapping: the two concepts are equivalent) UMLS:C5680904 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=229720 Syndromic agammaglobulinemia Category ORPHA:229720 UMLS:C5680904 E (Exact mapping: the two concepts are equivalent) 17q22 FANCO RAD51L2 ClinVar:RAD51C Ensembl:ENSG00000108384 Genatlas:RAD51C HGNC:9820 OMIM:602774 Reactome:O43502 SwissProt:O43502 RAD51C RAD51 paralog C 19q13.33 PNK ClinVar:PNKP Ensembl:ENSG00000039650 Genatlas:PNKP HGNC:9154 OMIM:605610 Reactome:Q96T60 SwissProt:Q96T60 PNKP polynucleotide kinase 3'-phosphatase 12q13.13 K6IRS4 KRT5C KRT6IRS4 ClinVar:KRT74 Ensembl:ENSG00000170484 Genatlas:KRT74 HGNC:28929 OMIM:608248 Reactome:Q7RTS7 SwissProt:Q7RTS7 KRT74 keratin 74 18p11.22 B7323 ClinVar:APCDD1 Ensembl:ENSG00000154856 Genatlas:APCDD1 HGNC:15718 OMIM:607479 SwissProt:Q8J025 APCDD1 APC down-regulated 1 A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor. Orphanet ICD-10:E34.8 ICD-11:5A44 UMLS:C0342337 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2298 Insulin-resistance syndrome type B ORPHA:2298 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0342337 E (Exact mapping: the two concepts are equivalent) 4q12 CD309 FLK1 VEGFR VEGFR2 fetal liver kinase 1 vascular endothelial growth factor receptor 2 ClinVar:KDR Ensembl:ENSG00000128052 Genatlas:KDR HGNC:6307 IUPHAR:1813 OMIM:191306 Reactome:P35968 SwissProt:P35968 KDR kinase insert domain receptor A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths. Orphanet ICD-10:Q25.4 ICD-11:LA8B.22 MedDRA:10022599 UMLS:C0152419 Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2299 Aortic arch interruption ORPHA:2299 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8B.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10022599 E (Exact mapping: the two concepts are equivalent) UMLS:C0152419 E (Exact mapping: the two concepts are equivalent) ASA deficiency ASL deficiency Argininosuccinase deficiency Argininosuccinatelyase deficiency Argininosuccinic acid lyase deficiency A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction. Orphanet ICD-10:E72.2 ICD-11:5C50.A0 MeSH:D056807 MedDRA:10058299 OMIM:207900 UMLS:C0268547 Autosomal recessive All ages Austria AND has_birth_prevalence_average_value : 1.05 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 0.69 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=23 Argininosuccinic aciduria ORPHA:23 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.A0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D056807 E (Exact mapping: the two concepts are equivalent) MedDRA:10058299 E (Exact mapping: the two concepts are equivalent) OMIM:207900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268547 E (Exact mapping: the two concepts are equivalent) DBH deficiency A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis. Orphanet ICD-10:G90.8 ICD-11:5C59.00 MeSH:C535600 OMIM:223360 UMLS:C0342687 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=230 Dopamine beta-hydroxylase deficiency ORPHA:230 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535600 E (Exact mapping: the two concepts are equivalent) OMIM:223360 E (Exact mapping: the two concepts are equivalent) UMLS:C0342687 E (Exact mapping: the two concepts are equivalent) Familial intestinal polyatresia syndrome Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. Orphanet ICD-10:Q43.8 ICD-11:LB15.1 MeSH:C562441 MedDRA:10028210 OMIM:243150 OMIM:619708 UMLS:C0220744 Autosomal recessive Antenatal Neonatal Worldwide AND has_birth_prevalence_average_value : 4.05 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2300 Multiple intestinal atresia ORPHA:2300 ICD-10:Q43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562441 E (Exact mapping: the two concepts are equivalent) MedDRA:10028210 E (Exact mapping: the two concepts are equivalent) OMIM:243150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619708 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220744 E (Exact mapping: the two concepts are equivalent) Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. Orphanet ICD-10:Q43.8 ICD-11:LB15.2 OMIM:300048 OMIM:615237 UMLS:C5441717 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 43.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2301 Congenital short bowel syndrome ORPHA:2301 ICD-10:Q43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB15.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:300048 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615237 E (Exact mapping: the two concepts are equivalent) UMLS:C5441717 E (Exact mapping: the two concepts are equivalent) Asbestosis A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers. Orphanet ICD-10:J61 ICD-11:CA60.2 MeSH:D001195 MedDRA:10003441 UMLS:C0003949 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2302 Asbestos intoxication ORPHA:2302 ICD-10:J61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:CA60.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001195 E (Exact mapping: the two concepts are equivalent) MedDRA:10003441 E (Exact mapping: the two concepts are equivalent) UMLS:C0003949 E (Exact mapping: the two concepts are equivalent) Isotretinoin embryopathy Retinoic acid embryopathy Retinoids embryopathy A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y MeSH:C535670 UMLS:C2930972 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2305 Isotretinoin syndrome ORPHA:2305 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535670 E (Exact mapping: the two concepts are equivalent) UMLS:C2930972 E (Exact mapping: the two concepts are equivalent) Kawashima syndrome Microtia-aortic arch syndrome Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Orphanet ICD-10:Q87.8 MeSH:C535542 OMIM:243440 UMLS:C0432364 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2306 Isotretinoin-like syndrome ORPHA:2306 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535542 E (Exact mapping: the two concepts are equivalent) OMIM:243440 E (Exact mapping: the two concepts are equivalent) UMLS:C0432364 E (Exact mapping: the two concepts are equivalent) Oculo-oto-radial syndrome Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. Orphanet ICD-10:Q71.8 MeSH:C535544 OMIM:147750 UMLS:C1327918 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2307 IVIC syndrome ORPHA:2307 ICD-10:Q71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535544 E (Exact mapping: the two concepts are equivalent) OMIM:147750 E (Exact mapping: the two concepts are equivalent) UMLS:C1327918 E (Exact mapping: the two concepts are equivalent) 11q terminal deletion syndrome Chromosome 11q deletion syndrome Del(11)(q23.3) Del(11)(qter) Distal deletion 11q Distal monosomy 11q Monosomy 11qter Telomeric deletion 11q A rare genetic disorder caused by deletions in the long arm of chromosome 11 (<i>11q</i>) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. Orphanet ICD-10:Q93.5 ICD-11:LD44.B0 MeSH:D054868 OMIM:147791 UMLS:C0795841 Not applicable Unknown Antenatal United States AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2308 Jacobsen syndrome ORPHA:2308 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.B0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054868 E (Exact mapping: the two concepts are equivalent) OMIM:147791 E (Exact mapping: the two concepts are equivalent) UMLS:C0795841 E (Exact mapping: the two concepts are equivalent) Toxin-mediated infective botulism Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced <i>in vivo</i> leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms). Orphanet ICD-10:A05.1 ICD-11:1A11.1 UMLS:C5679843 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=230800 Toxin-mediated infectious botulism Clinical subtype ORPHA:230800 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679843 E (Exact mapping: the two concepts are equivalent) Classical-like EDS type 1 Ehlers-Danlos syndrome due to tenascin-X deficiency clEDS type 1 A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:C536193 OMIM:606408 UMLS:C1848029 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=230839 Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536193 E (Exact mapping: the two concepts are equivalent) OMIM:606408 E (Exact mapping: the two concepts are equivalent) UMLS:C1848029 E (Exact mapping: the two concepts are equivalent) COL1A1-cEDS Classic EDS-like with a propensity for arterial rupture Classical EDS due to COL1A1 p.(Arg312Cys) Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys) Vascular-like classical EDS This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classical Ehlers-Danlos syndrome Vascular-like classical Ehlers-Danlos syndrome ORPHA:230845 Cardiac-valvular EDS cvEDS A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:225320 UMLS:C5679842 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=230851 Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:225320 E (Exact mapping: the two concepts are equivalent) UMLS:C5679842 E (Exact mapping: the two concepts are equivalent) EDS/OI syndrome A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:619115 OMIM:619120 UMLS:C4518787 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=230857 Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:619115 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619120 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4518787 E (Exact mapping: the two concepts are equivalent) PC A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa. Orphanet ICD-10:Q84.5 ICD-11:LD27.Y MeSH:D053549 MedDRA:10080088 OMIM:167200 OMIM:167210 OMIM:260130 OMIM:615726 OMIM:615728 UMLS:C0265334 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 1000.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2309 Pachyonychia congenita ORPHA:2309 ICD-10:Q84.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053549 E (Exact mapping: the two concepts are equivalent) MedDRA:10080088 E (Exact mapping: the two concepts are equivalent) OMIM:167200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:167210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:260130 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615726 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615728 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265334 E (Exact mapping: the two concepts are equivalent) Dracunculosis Guinea worm disease Medina worm disease Medinensis Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the <i>Dracunculus medinensis</i> parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (<i>Cyclops spp.</i>, microcrustacea also called water fleas). Orphanet ICD-10:B72 ICD-11:1F64 MeSH:D004320 MedDRA:10013618 UMLS:C0013100 All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231 Dracunculiasis ORPHA:231 ICD-10:B72 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F64 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004320 E (Exact mapping: the two concepts are equivalent) MedDRA:10013618 E (Exact mapping: the two concepts are equivalent) UMLS:C0013100 E (Exact mapping: the two concepts are equivalent) A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. Orphanet ICD-10:Q87.2 OMIM:246000 UMLS:C4274843 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2310 Absence deformity of leg-cataract syndrome ORPHA:2310 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:246000 E (Exact mapping: the two concepts are equivalent) UMLS:C4274843 E (Exact mapping: the two concepts are equivalent) Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). Orphanet ICD-10:G50.8 MeSH:C536440 OMIM:122450 UMLS:C1852541 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231013 Congenital trigeminal anesthesia ORPHA:231013 ICD-10:G50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536440 E (Exact mapping: the two concepts are equivalent) OMIM:122450 E (Exact mapping: the two concepts are equivalent) UMLS:C1852541 E (Exact mapping: the two concepts are equivalent) Lane disease Red palms disease Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. Orphanet ICD-10:L59.8 MeSH:C565041 OMIM:133000 UMLS:C1851502 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231031 Erythema palmare hereditarium ORPHA:231031 ICD-10:L59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565041 E (Exact mapping: the two concepts are equivalent) OMIM:133000 E (Exact mapping: the two concepts are equivalent) UMLS:C1851502 E (Exact mapping: the two concepts are equivalent) Familial lentigines profusa Familial multiple lentigines syndrome without systemic involvement Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. Orphanet ICD-10:L81.4 ICD-11:EC23.0 OMIM:151001 UMLS:C4707357 Autosomal dominant Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231040 Familial generalized lentiginosis ORPHA:231040 ICD-10:L81.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:151001 E (Exact mapping: the two concepts are equivalent) UMLS:C4707357 E (Exact mapping: the two concepts are equivalent) ICD-10:K22.7 UMLS:C5680921 Not applicable All ages Europe AND has_point_prevalence_average_value : 36.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231080 High-grade dysplasia in patients with Barrett esophagus ORPHA:231080 ICD-10:K22.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680921 E (Exact mapping: the two concepts are equivalent) Jarcho-Levin syndrome A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. Orphanet ICD-10:Q76.8 ICD-11:LD24.H MeSH:C537565 OMIM:277300 OMIM:608681 OMIM:609813 OMIM:613686 OMIM:616566 UMLS:C0265343 Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2311 Autosomal recessive spondylocostal dysostosis ORPHA:2311 ICD-10:Q76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.H - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537565 E (Exact mapping: the two concepts are equivalent) OMIM:277300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608681 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609813 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613686 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616566 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265343 E (Exact mapping: the two concepts are equivalent) RTPS ICD-10:C49.9 OMIM:609322 OMIM:613325 UMLS:C2985524 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231108 Rhabdoid tumor predisposition syndrome ORPHA:231108 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609322 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613325 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2985524 E (Exact mapping: the two concepts are equivalent) DILE A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydralazine are the drugs most frequently implicated. Orphanet ICD-10:M32.0 ICD-11:4A40.1 MedDRA:10013706 UMLS:C0263591 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231111 Drug-induced lupus erythematosus ORPHA:231111 ICD-10:M32.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10013706 E (Exact mapping: the two concepts are equivalent) UMLS:C0263591 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.3 ICD-11:LD2C UMLS:C5680922 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Etiological subtype ORPHA:231117 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680922 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.3 ICD-11:LD2C OMIM:130650 UMLS:C5680918 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation Etiological subtype ORPHA:231120 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:130650 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680918 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.3 ICD-11:LD2C UMLS:C5680919 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Etiological subtype ORPHA:231127 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680919 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.3 ICD-11:LD2C UMLS:C5680920 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Etiological subtype ORPHA:231130 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680920 E (Exact mapping: the two concepts are equivalent) Silver-Russell syndrome due to 7p11.2-p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to trisomy 7p11.2-p13 Silver-Russell syndrome due to trisomy 7p11.2p13 ICD-10:Q87.1 ICD-11:LD2F.1Y UMLS:C5679840 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Etiological subtype ORPHA:231137 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679840 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD2F.1Y UMLS:C5680916 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231140 Silver-Russell syndrome due to an imprinting defect of 11p15 Etiological subtype ORPHA:231140 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680916 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD2F.1Y UMLS:C5680917 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231144 Silver-Russell syndrome due to 11p15 microduplication Etiological subtype ORPHA:231144 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680917 E (Exact mapping: the two concepts are equivalent) UPD(11)mat ICD-10:Q87.1 ICD-11:LD2F.1Y UMLS:C5679841 Not applicable Unknown Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Etiological subtype ORPHA:231147 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679841 E (Exact mapping: the two concepts are equivalent) CID due to partial RAG1 deficiency CID with expansion of gamma delta T cells Combined immunodeficiency with expansion of gamma delta T cells Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:609889 UMLS:C4510944 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231154 Combined immunodeficiency due to partial RAG1 deficiency ORPHA:231154 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609889 E (Exact mapping: the two concepts are equivalent) UMLS:C4510944 E (Exact mapping: the two concepts are equivalent) Familial berry aneurysm Familial intracranial saccular aneurysm A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms. Orphanet ICD-10:I67.1 ICD-11:8B22.6 OMIM:105800 OMIM:300870 OMIM:608542 OMIM:609122 OMIM:610213 OMIM:611892 OMIM:612161 OMIM:612162 OMIM:612586 OMIM:612587 OMIM:614252 OMIM:618734 UMLS:C3839866 Autosomal dominant Autosomal recessive All ages Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231160 Familial cerebral saccular aneurysm ORPHA:231160 ICD-10:I67.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:105800 E (Exact mapping: the two concepts are equivalent) OMIM:300870 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608542 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609122 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610213 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611892 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612161 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612162 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612586 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612587 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614252 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618734 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3839866 E (Exact mapping: the two concepts are equivalent) USH1 A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance. Orphanet ICD-10:H35.5 ICD-11:LD2H.4 OMIM:276900 OMIM:276904 OMIM:601067 OMIM:602083 OMIM:602097 OMIM:606943 OMIM:612632 OMIM:614869 OMIM:614990 OMIM:618632 UMLS:C1568247 Autosomal recessive Infancy Neonatal Denmark AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231169 Usher syndrome type 1 Clinical subtype ORPHA:231169 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:276900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:276904 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601067 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602083 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602097 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606943 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612632 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614869 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618632 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1568247 E (Exact mapping: the two concepts are equivalent) USH2 A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception. Orphanet ICD-10:H35.5 ICD-11:LD2H.4 OMIM:276901 OMIM:605472 OMIM:611383 UMLS:C0339534 Autosomal recessive Infancy Neonatal Denmark AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231178 Usher syndrome type 2 Clinical subtype ORPHA:231178 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:276901 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605472 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611383 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0339534 E (Exact mapping: the two concepts are equivalent) USH3 A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood. Orphanet ICD-10:H35.5 ICD-11:LD2H.4 OMIM:276902 OMIM:500004 OMIM:614504 UMLS:C1568248 Autosomal recessive Adolescent Childhood Denmark AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231183 Usher syndrome type 3 Clinical subtype ORPHA:231183 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:276902 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:500004 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614504 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1568248 E (Exact mapping: the two concepts are equivalent) Lucey-Driscoll syndrome A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death. Orphanet ICD-10:P59.8 MeSH:C562692 OMIM:237900 UMLS:C0270210 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2312 Transient familial neonatal hyperbilirubinemia ORPHA:2312 ICD-10:P59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562692 E (Exact mapping: the two concepts are equivalent) OMIM:237900 E (Exact mapping: the two concepts are equivalent) UMLS:C0270210 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Common variable immunodeficiency OBSOLETE: Common variable immunodeficiency without known genetic defect ORPHA:231205 Cooley anemia Mediterranean anemia Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions. Orphanet ICD-10:D56.1 ICD-11:3A50.2 OMIM:613985 UMLS:C0002875 Autosomal recessive Infancy Neonatal Bahrain AND has_point_prevalence_average_value : 160.0 AND has_point_prevalence_range : >1 / 1000 Oman AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231214 Beta-thalassemia major Clinical subtype ORPHA:231214 ICD-10:D56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613985 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0002875 E (Exact mapping: the two concepts are equivalent) Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion. Orphanet ICD-10:D56.1 ICD-11:3A50.2 MedDRA:10062923 OMIM:613985 UMLS:C0472767 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231222 Beta-thalassemia intermedia Clinical subtype ORPHA:231222 ICD-10:D56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10062923 E (Exact mapping: the two concepts are equivalent) OMIM:613985 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0472767 E (Exact mapping: the two concepts are equivalent) Inclusion body beta-thalassemia Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia. Orphanet ICD-10:D56.1 ICD-11:3A50.2 MeSH:C565834 OMIM:603902 UMLS:C1858990 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231226 Dominant beta-thalassemia Clinical subtype ORPHA:231226 ICD-10:D56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565834 E (Exact mapping: the two concepts are equivalent) OMIM:603902 E (Exact mapping: the two concepts are equivalent) UMLS:C1858990 E (Exact mapping: the two concepts are equivalent) Beta-thalassemia associated with another Hb anomaly Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]. Orphanet UMLS:C5679839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231230 Beta-thalassemia associated with another hemoglobin anomaly Category ORPHA:231230 UMLS:C5679839 E (Exact mapping: the two concepts are equivalent) Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. Orphanet ICD-10:D56.2 ICD-11:3A50.3 MeSH:C562716 MedDRA:10012236 OMIM:141749 UMLS:C0271985 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231237 Delta-beta-thalassemia ORPHA:231237 ICD-10:D56.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A50.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562716 E (Exact mapping: the two concepts are equivalent) MedDRA:10012236 E (Exact mapping: the two concepts are equivalent) OMIM:141749 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0271985 E (Exact mapping: the two concepts are equivalent) C-beta-thalassemia HbC-beta-thalassemia syndrome Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia. Orphanet ICD-10:D58.2 ICD-11:3A50.Y UMLS:C0221020 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231242 Hemoglobin C-beta-thalassemia syndrome ORPHA:231242 ICD-10:D58.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0221020 E (Exact mapping: the two concepts are equivalent) E-beta-thalassemia HbE-beta-thalassemia syndrome Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms). Orphanet ICD-10:D58.2 ICD-11:3A50.2 UMLS:C0472777 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231249 Hemoglobin E-beta-thalassemia syndrome ORPHA:231249 ICD-10:D58.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0472777 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy Beta-thalassemia-trichothiodystrophy syndrome ORPHA:231256 Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder. Orphanet UMLS:C5680915 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231386 Beta-thalassemia with other manifestations Category ORPHA:231386 UMLS:C5680915 E (Exact mapping: the two concepts are equivalent) 3p14.3 WNT-5A protein hWNT5A ClinVar:WNT5A Ensembl:ENSG00000114251 Genatlas:WNT5A HGNC:12784 OMIM:164975 Reactome:P41221 SwissProt:P41221 WNT5A Wnt family member 5A XLTT Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Orphanet ICD-10:D69.4 ICD-11:3A50.2 MeSH:C564050 OMIM:314050 UMLS:C1839161 X-linked recessive No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231393 Beta-thalassemia-X-linked thrombocytopenia syndrome ORPHA:231393 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564050 E (Exact mapping: the two concepts are equivalent) OMIM:314050 E (Exact mapping: the two concepts are equivalent) UMLS:C1839161 E (Exact mapping: the two concepts are equivalent) 18q12.3 KIAA0437 SEB ClinVar:SETBP1 Ensembl:ENSG00000152217 Genatlas:SETBP1 HGNC:15573 OMIM:611060 SwissProt:Q9Y6X0 SETBP1 SET binding protein 1 AD-HIES due to STAT3 deficiency Autosomal dominant HIES due to STAT3 deficiency Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency Buckley syndrome Job syndrome A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. Orphanet ICD-10:D82.4 ICD-11:4A01.34 MeSH:D007589 OMIM:147060 UMLS:C2936739 Autosomal dominant Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency ORPHA:2314 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.34 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007589 E (Exact mapping: the two concepts are equivalent) OMIM:147060 E (Exact mapping: the two concepts are equivalent) UMLS:C2936739 E (Exact mapping: the two concepts are equivalent) ATMDS Acquired HbH disease Acquired hemoglobin H disease An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH). Orphanet ICD-10:D46.7 ICD-10:D56.0 ICD-11:3A50.0Y MeSH:C563023 OMIM:300448 UMLS:C0585216 Not applicable Adult Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231401 Alpha-thalassemia-myelodysplastic syndrome ORPHA:231401 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563023 E (Exact mapping: the two concepts are equivalent) OMIM:300448 E (Exact mapping: the two concepts are equivalent) UMLS:C0585216 E (Exact mapping: the two concepts are equivalent) Variant of GBS UMLS:C5679837 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231413 Variant of Guillain-Barré syndrome Category ORPHA:231413 UMLS:C5679837 E (Exact mapping: the two concepts are equivalent) Regional variant of GBS UMLS:C5679835 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231416 Regional variant of Guillain-Barré syndrome Clinical group ORPHA:231416 UMLS:C5679835 E (Exact mapping: the two concepts are equivalent) Functional variant of GBS UMLS:C5679836 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231419 Functional variant of Guillain-Barré syndrome Clinical group ORPHA:231419 UMLS:C5679836 E (Exact mapping: the two concepts are equivalent) 5q35.1 FREAC6 ClinVar:FOXI1 Ensembl:ENSG00000168269 Genatlas:FOXI1 HGNC:3815 OMIM:601093 SwissProt:Q12951 FOXI1 forkhead box I1 PCB variant of GBS PCB variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial weakness Pharyngo-cervico-brachial variant of GBS Pharyngo-cervico-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated. Orphanet ICD-10:G61.0 ICD-11:8C01.0 UMLS:C5190783 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome ORPHA:231426 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190783 E (Exact mapping: the two concepts are equivalent) Paraparetic variant of GBS Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. Orphanet ICD-10:G61.0 ICD-11:8C01.0 UMLS:C4707803 Multigenic/multifactorial Not applicable All ages Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231445 Paraparetic variant of Guillain-Barré syndrome ORPHA:231445 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707803 E (Exact mapping: the two concepts are equivalent) Acute pure sensory GBS Acute pure sensory Guillain-Barré syndrome A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense. Orphanet ICD-10:G61.0 UMLS:C5190881 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231450 Acute pure sensory neuropathy ORPHA:231450 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190881 E (Exact mapping: the two concepts are equivalent) Acute panautonomic GBS Acute panautonomic Guillain-Barré syndrome Acute panautonomic neuropathy A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating. Orphanet ICD-10:G61.0 ICD-11:8C01.0 UMLS:C2315246 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231457 Acute pandysautonomia ORPHA:231457 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2315246 E (Exact mapping: the two concepts are equivalent) ASAN Acute sensory ataxic GBS Acute sensory ataxic Guillain-Barré syndrome A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. Orphanet ICD-10:G61.0 ICD-11:8C01.0 UMLS:C4707661 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231466 Acute sensory ataxic neuropathy ORPHA:231466 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707661 E (Exact mapping: the two concepts are equivalent) 22q13.2 BAFFR CD268 ClinVar:TNFRSF13C Ensembl:ENSG00000159958 Genatlas:TNFRSF13C HGNC:17755 IUPHAR:1886 OMIM:606269 Reactome:Q96RJ3 SwissProt:Q96RJ3 TNFRSF13C TNF receptor superfamily member 13C JBS Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C535880 MedDRA:10074947 OMIM:243800 UMLS:C0175692 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2315 Johanson-Blizzard syndrome ORPHA:2315 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535880 E (Exact mapping: the two concepts are equivalent) MedDRA:10074947 E (Exact mapping: the two concepts are equivalent) OMIM:243800 E (Exact mapping: the two concepts are equivalent) UMLS:C0175692 E (Exact mapping: the two concepts are equivalent) HPS with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis A form of Hermansky-Pudlak syndrome characterized by oculocutaneous albinism, bleeding diathesis and pulmonary fibrosis or granulomatous colitis, but without neutropenia. Hermansky-Pudlak syndrome due to BLOC-3 deficiency has a severe prognosis and includes two genetic etiologies (<i>HPS1</i> and <i>HPS4</i>). Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:203300 OMIM:614073 UMLS:C5679834 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency Clinical subtype ORPHA:231500 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:203300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614073 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679834 E (Exact mapping: the two concepts are equivalent) HPS without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis A form of Hermansky-Pudlak syndrome characterized by syndromic ocular or oculocutaneous albinism which may present with bleeding diathesis and, in some cases, granulomatous colitis, but without neutropenia or pulmonary fibrosis as a complication. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:614072 OMIM:614074 OMIM:614075 UMLS:C5679833 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency Clinical subtype ORPHA:231512 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614072 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614074 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614075 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679833 E (Exact mapping: the two concepts are equivalent) Xp22.2 GPI3 GPI3 (SPT14) homolog (S. cerevisiae) PIG-A Phosphatidylinositol N-acetylglucosaminyltransferase subunit A paroxysmal nocturnal hemoglobinuria ClinVar:PIGA Ensembl:ENSG00000165195 Genatlas:PIGA HGNC:8957 OMIM:311770 Reactome:P37287 SwissProt:P37287 PIGA phosphatidylinositol glycan anchor biosynthesis class A ICD-10:E70.3 ICD-11:EC23.20 OMIM:614076 OMIM:614077 OMIM:614171 OMIM:619172 UMLS:C5680913 Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency Clinical subtype ORPHA:231531 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614076 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614077 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614171 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619172 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680913 E (Exact mapping: the two concepts are equivalent) HPS8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hermansky-Pudlak syndrome due to BLOC-1 deficiency OMIM:614077 Hermansky-Pudlak syndrome type 8 ORPHA:231537 OMIM:614077 E (Exact mapping: the two concepts are equivalent) Late-onset localized JEB-intellectual disability syndrome A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q81.8 OMIM:226440 UMLS:C4751165 Unknown Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ORPHA:231556 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:226440 E (Exact mapping: the two concepts are equivalent) UMLS:C4751165 E (Exact mapping: the two concepts are equivalent) Generalized DDEB A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. Orphanet ICD-10:Q81.2 OMIM:131750 UMLS:C5679846 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231568 Autosomal dominant generalized dystrophic epidermolysis bullosa ORPHA:231568 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:131750 E (Exact mapping: the two concepts are equivalent) UMLS:C5679846 E (Exact mapping: the two concepts are equivalent) CEVD Congenital erosive and vesicular dermatosis with reticulated supple scarring A rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated. Orphanet ICD-10:Q82.8 ICD-11:KC31 UMLS:C4751164 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 31.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231573 Congenital erosive and vesicular dermatosis ORPHA:231573 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KC31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4751164 E (Exact mapping: the two concepts are equivalent) PUAH Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. Orphanet ICD-10:E26.0 ICD-11:5A72.0 UMLS:C4274967 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231580 Primary unilateral adrenal hyperplasia ORPHA:231580 ICD-10:E26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274967 E (Exact mapping: the two concepts are equivalent) Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome Alopecia-anosmia-deafness-hypogonadism syndrome Johnson-McMillin syndrome Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C535882 OMIM:147770 UMLS:C0796002 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2316 Johnson neuroectodermal syndrome ORPHA:2316 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535882 E (Exact mapping: the two concepts are equivalent) OMIM:147770 E (Exact mapping: the two concepts are equivalent) UMLS:C0796002 E (Exact mapping: the two concepts are equivalent) 12q24.11 DAAO DAMOX ClinVar:DAO Ensembl:ENSG00000110887 Genatlas:DAO HGNC:2671 OMIM:124050 Reactome:P14920 SwissProt:P14920 DAO D-amino acid oxidase Pure APAC Pure aldosterone-producing adrenocortical carcinoma Pure aldosterone-secreting adrenocortical carcinoma A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy. Orphanet ICD-10:C74.0 UMLS:C5679847 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231625 Adrenocortical carcinoma with pure aldosterone hypersecretion ORPHA:231625 ICD-10:C74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679847 E (Exact mapping: the two concepts are equivalent) Extra-adrenal aldosterone-producing tumor Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. Orphanet ICD-10:E26.8 UMLS:C4755311 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231632 Ectopic aldosterone-producing tumor ORPHA:231632 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755311 E (Exact mapping: the two concepts are equivalent) A rare primary hyperaldosteronism characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. Orphanet UMLS:C5680925 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231637 Rare surgically correctable form of primary aldosteronism Category ORPHA:231637 UMLS:C5680925 E (Exact mapping: the two concepts are equivalent) UMLS:C5680926 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231641 Rare non surgically correctable form of primary aldosteronism Category ORPHA:231641 UMLS:C5680926 E (Exact mapping: the two concepts are equivalent) Congenital IGHD type IA Congenital isolated GH deficiency type IA Congenital isolated growth hormone deficiency type IA ICD-10:E23.0 ICD-11:5A61.3 OMIM:262400 OMIM:618160 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231662 Isolated growth hormone deficiency type IA Clinical subtype ORPHA:231662 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:262400 E (Exact mapping: the two concepts are equivalent) OMIM:618160 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Congenital IGHD type IB Congenital isolated GH deficiency type IB Congenital isolated growth hormone deficiency type IB ICD-10:E23.0 ICD-11:5A61.3 MeSH:C567564 OMIM:612781 UMLS:C2748571 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231671 Isolated growth hormone deficiency type IB Clinical subtype ORPHA:231671 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567564 E (Exact mapping: the two concepts are equivalent) OMIM:612781 E (Exact mapping: the two concepts are equivalent) UMLS:C2748571 E (Exact mapping: the two concepts are equivalent) Congenital IGHD type II Congenital isolated GH deficiency type II Congenital isolated growth hormone deficiency type II ICD-10:E23.0 ICD-11:5A61.3 MeSH:C562704 OMIM:173100 UMLS:C0271567 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231679 Isolated growth hormone deficiency type II Clinical subtype ORPHA:231679 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562704 E (Exact mapping: the two concepts are equivalent) OMIM:173100 E (Exact mapping: the two concepts are equivalent) UMLS:C0271567 E (Exact mapping: the two concepts are equivalent) Congenital IGHD type III Congenital isolated GH deficiency type III Congenital isolated growth hormone deficiency type III X-linked IGHD X-linked isolated growth hormone deficiency ICD-10:E23.0 ICD-11:5A61.3 OMIM:300123 OMIM:307200 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231692 Isolated growth hormone deficiency type III Clinical subtype ORPHA:231692 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300123 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:307200 BTNT (ORPHAcode is broader than the targeted code used to represent it) Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. Orphanet ICD-10:E23.0 OMIM:221750 UMLS:C4749825 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome ORPHA:231720 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:221750 E (Exact mapping: the two concepts are equivalent) UMLS:C4749825 E (Exact mapping: the two concepts are equivalent) MPPC syndrome A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. Orphanet ICD-10:Q15.8 UMLS:C4751163 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome ORPHA:231736 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751163 E (Exact mapping: the two concepts are equivalent) Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. Orphanet ICD-10:Q83.3 UMLS:C5680927 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome ORPHA:231742 ICD-10:Q83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680927 E (Exact mapping: the two concepts are equivalent) Arima syndrome CORS Cerebellooculorenal syndrome Dekaban-Arima syndrome JS type B JS-OR Joubert syndrome with Senior-Loken syndrome A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. Orphanet ICD-10:Q04.3 ICD-11:LD20.0Y MeSH:C537430 OMIM:243910 OMIM:608091 OMIM:610188 OMIM:612285 OMIM:614424 OMIM:614465 OMIM:614844 UMLS:C1855675 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2318 Joubert syndrome with oculorenal defect ORPHA:2318 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537430 E (Exact mapping: the two concepts are equivalent) OMIM:243910 E (Exact mapping: the two concepts are equivalent) OMIM:608091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610188 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612285 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614424 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614465 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614844 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1855675 E (Exact mapping: the two concepts are equivalent) Cleft lip/palate-abnormal thumbs-microcephaly syndrome Orocraniodigital syndrome Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C537690 OMIM:216100 UMLS:C0796099 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2319 Juberg-Hayward syndrome ORPHA:2319 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537690 E (Exact mapping: the two concepts are equivalent) OMIM:216100 E (Exact mapping: the two concepts are equivalent) UMLS:C0796099 E (Exact mapping: the two concepts are equivalent) A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events. Orphanet ICD-10:D57.0 ICD-10:D57.1 ICD-10:D57.2 ICD-11:3A51.1 ICD-11:3A51.2 MeSH:D000755 MedDRA:10040641 OMIM:603903 UMLS:C0002895 Autosomal recessive All ages Belgium AND has_birth_prevalence_average_value : 47.5 AND has_birth_prevalence_range : 1-5 / 10 000 Brazil AND has_annual_incidence_average_value : 21.6262 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 42.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 Guadeloupe AND has_birth_prevalence_average_value : 344.8 AND has_birth_prevalence_range : >1 / 1000 Guyana AND has_birth_prevalence_average_value : 467.3 AND has_birth_prevalence_range : >1 / 1000 Martinique AND has_birth_prevalence_average_value : 248.75 AND has_birth_prevalence_range : >1 / 1000 Reunion AND has_birth_prevalence_average_value : 20.15 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 41.7 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 32.8 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=232 Sickle cell anemia ORPHA:232 ICD-10:D57.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D57.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D57.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A51.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A51.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000755 E (Exact mapping: the two concepts are equivalent) MedDRA:10040641 E (Exact mapping: the two concepts are equivalent) OMIM:603903 E (Exact mapping: the two concepts are equivalent) UMLS:C0002895 E (Exact mapping: the two concepts are equivalent) ICD-11:LD2F.Y UMLS:C5439342 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=232035 Infectious embryofetopathy Category ORPHA:232035 ICD-11:LD2F.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5439342 E (Exact mapping: the two concepts are equivalent) A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995. Orphanet ICD-10:Q87.8 MeSH:C537694 OMIM:601427 UMLS:C1275130 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2321 Jung syndrome ORPHA:2321 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537694 E (Exact mapping: the two concepts are equivalent) OMIM:601427 E (Exact mapping: the two concepts are equivalent) UMLS:C1275130 E (Exact mapping: the two concepts are equivalent) 11q14.1 DKFZp586C1924 OPA7 ClinVar:TMEM126A Ensembl:ENSG00000171202 Genatlas:TMEM126A HGNC:25382 OMIM:612988 SwissProt:Q9H061 TMEM126A transmembrane protein 126A 7q36.2 DPL1 DPPX ClinVar:DPP6 Ensembl:ENSG00000130226 Genatlas:DPP6 HGNC:3010 OMIM:126141 SwissProt:P42658 DPP6 dipeptidyl peptidase like 6 16q22.1 AlaRS CMT2N alanine tRNA ligase 1, cytoplasmic ClinVar:AARS Ensembl:ENSG00000090861 Genatlas:AARS HGNC:20 OMIM:601065 Reactome:P49588 SwissProt:P49588 AARS1 alanyl-tRNA synthetase 1 Kabuki make-up syndrome Niikawa-Kuroki syndrome A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C537705 MedDRA:10063935 OMIM:147920 OMIM:300867 UMLS:C0796004 Autosomal dominant Not applicable Antenatal Infancy Neonatal Australia AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000 New Zealand AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2322 Kabuki syndrome ORPHA:2322 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537705 E (Exact mapping: the two concepts are equivalent) MedDRA:10063935 E (Exact mapping: the two concepts are equivalent) OMIM:147920 E (Exact mapping: the two concepts are equivalent) OMIM:300867 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796004 E (Exact mapping: the two concepts are equivalent) 4p15.33 NKX3.2 NKX3B ClinVar:NKX3-2 Ensembl:ENSG00000109705 Genatlas:NKX3-2 HGNC:951 OMIM:602183 SwissProt:P78367 NKX3-2 NK3 homeobox 2 1q24.1 Ca(2+) load-activated Ca(2+) channel HP10122 ClinVar:TMCO1 Ensembl:ENSG00000143183 Genatlas:TMCO1 HGNC:18188 OMIM:614123 SwissProt:Q9UM00 TMCO1 transmembrane and coiled-coil domains 1 5q14.3 ClinVar:MEF2C Ensembl:ENSG00000081189 Genatlas:MEF2C HGNC:6996 OMIM:600662 Reactome:Q06413 SwissProt:Q06413 MEF2C myocyte enhancer factor 2C 20q11.22 AIP4 ClinVar:ITCH Ensembl:ENSG00000078747 Genatlas:ITCH HGNC:13890 OMIM:606409 Reactome:Q96J02 SwissProt:Q96J02 ITCH itchy E3 ubiquitin protein ligase Xp11.22 BRAG1 IQ-ArfGEF KIAA0522 brefeldin A resistant Arf-guanine nucleotide exchange factor 1 ClinVar:IQSEC2 Ensembl:ENSG00000124313 Genatlas:IQSEC2 HGNC:29059 OMIM:300522 SwissProt:Q5JU85 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS). Orphanet UMLS:C5680928 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=232288 Syndrome with alpha-thalassemia as a major feature Category ORPHA:232288 UMLS:C5680928 E (Exact mapping: the two concepts are equivalent) HRD syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability-seizures syndrome Richardson-Kirk syndrome SSS Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features. Orphanet ICD-10:Q87.1 ICD-11:LD24.D MeSH:C537157 OMIM:241410 UMLS:C1855840 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2323 Sanjad-Sakati syndrome ORPHA:2323 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537157 E (Exact mapping: the two concepts are equivalent) OMIM:241410 E (Exact mapping: the two concepts are equivalent) UMLS:C1855840 E (Exact mapping: the two concepts are equivalent) Kaler-Garrity-Stern syndrome A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.5 ICD-11:LD24.KY MeSH:C537706 OMIM:259690 UMLS:C1850140 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2324 Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537706 E (Exact mapping: the two concepts are equivalent) OMIM:259690 E (Exact mapping: the two concepts are equivalent) UMLS:C1850140 E (Exact mapping: the two concepts are equivalent) EBS with anodontia/hypodontia Kallin syndrome A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described. Orphanet ICD-10:Q81.0 UMLS:C0432313 Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2325 Epidermolysis bullosa simplex with anodontia/hypodontia ORPHA:2325 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0432313 E (Exact mapping: the two concepts are equivalent) Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Orphanet ICD-10:Q24.8 UMLS:C4302897 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2326 Kallmann syndrome-heart disease syndrome ORPHA:2326 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4302897 E (Exact mapping: the two concepts are equivalent) Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Orphanet ICD-10:Q87.8 MeSH:C537008 OMIM:244300 UMLS:C0796005 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2328 Kapur-Toriello syndrome ORPHA:2328 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537008 E (Exact mapping: the two concepts are equivalent) OMIM:244300 E (Exact mapping: the two concepts are equivalent) UMLS:C0796005 E (Exact mapping: the two concepts are equivalent) Split hand/split foot-nystagmus syndrome Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Orphanet ICD-10:Q87.2 MeSH:C537319 OMIM:183800 UMLS:C1866740 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2329 Karsch-Neugebauer syndrome ORPHA:2329 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537319 E (Exact mapping: the two concepts are equivalent) OMIM:183800 E (Exact mapping: the two concepts are equivalent) UMLS:C1866740 E (Exact mapping: the two concepts are equivalent) DRS DURS Duane syndrome Stilling-Turk-Duane syndrome A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction. Orphanet ICD-10:H50.8 ICD-11:9C82.2 MeSH:D004370 MedDRA:10013799 OMIM:126800 OMIM:604356 OMIM:616219 OMIM:617041 UMLS:C0013261 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=233 Duane retraction syndrome ORPHA:233 ICD-10:H50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9C82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004370 E (Exact mapping: the two concepts are equivalent) MedDRA:10013799 E (Exact mapping: the two concepts are equivalent) OMIM:126800 E (Exact mapping: the two concepts are equivalent) OMIM:604356 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616219 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:617041 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0013261 E (Exact mapping: the two concepts are equivalent) Hemangioma-thrombocytopenia syndrome A rare hemorrhagic disorder characterized by potentially life-threatening thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy in the context of kaposiform hemangioendothelioma or tufted angioma. Orphanet ICD-10:D18.0 ICD-11:KA8Y MeSH:D059885 MedDRA:10058423 OMIM:141000 UMLS:C0221025 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2330 Kasabach-Merritt phenomenon ORPHA:2330 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KA8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D059885 E (Exact mapping: the two concepts are equivalent) MedDRA:10058423 E (Exact mapping: the two concepts are equivalent) OMIM:141000 E (Exact mapping: the two concepts are equivalent) UMLS:C0221025 E (Exact mapping: the two concepts are equivalent) 2p23.2 FLJ34931 RP54 ClinVar:C2orf71 Ensembl:ENSG00000179270 Genatlas:C2orf71 HGNC:34383 OMIM:613425 SwissProt:A6NGG8 PCARE photoreceptor cilium actin regulator 6p25.2 CAP PTI cytoplasmic antiproteinase placental thrombin inhibitor ClinVar:SERPINB6 Ensembl:ENSG00000124570 Genatlas:SERPINB6 HGNC:8950 OMIM:173321 Reactome:P35237 SwissProt:P35237 SERPINB6 serpin family B member 6 Xp11.3 DXS8237E G-patch domain containing 9 GPATC9 GPATCH9 KIAA0122 S1-1 ZRANB5 zinc finger RANBP2-type containing 5 ClinVar:RBM10 Ensembl:ENSG00000182872 Genatlas:RBM10 HGNC:9896 OMIM:300080 Reactome:P98175 SwissProt:P98175 RBM10 RNA binding motif protein 10 11p11.2 CLSS LRP-4 MEGF7 SOST2 multiple EGF like domains 7 ClinVar:LRP4 Ensembl:ENSG00000134569 Genatlas:LRP4 HGNC:6696 OMIM:604270 Reactome:O75096 SwissProt:O75096 LRP4 LDL receptor related protein 4 17q21.2 FKBP6 FKBP65 FLJ20683 FLJ22041 FLJ23833 hFKBP65 ClinVar:FKBP10 Ensembl:ENSG00000141756 Genatlas:FKBP10 HGNC:18169 OMIM:607063 SwissProt:Q96AY3 FKBP10 FKBP prolyl isomerase 10 10p13 ClinVar:VIM Ensembl:ENSG00000026025 Genatlas:VIM HGNC:12692 OMIM:193060 Reactome:P08670 SwissProt:P08670 VIM vimentin 1p36.33 AGRIN ClinVar:AGRN Ensembl:ENSG00000188157 Genatlas:AGRN HGNC:329 OMIM:103320 Reactome:O00468 SwissProt:O00468 AGRN agrin 10q11.22 IGBF MSP MSPB PN44 PRPS PSP PSP-94 PSP57 PSP94 beta-microseminoprotein ClinVar:MSMB Ensembl:ENSG00000263639 Genatlas:MSMB HGNC:7372 OMIM:157145 SwissProt:P08118 MSMB microseminoprotein beta Mucocutaneous lymph node syndrome A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. Orphanet ICD-10:M30.3 ICD-11:4A44.5 MeSH:D009080 MedDRA:10023320 OMIM:611775 UMLS:C0026691 Multigenic/multifactorial Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2331 Kawasaki disease ORPHA:2331 ICD-10:M30.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A44.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009080 E (Exact mapping: the two concepts are equivalent) MedDRA:10023320 E (Exact mapping: the two concepts are equivalent) OMIM:611775 E (Exact mapping: the two concepts are equivalent) UMLS:C0026691 E (Exact mapping: the two concepts are equivalent) 19q13.11 C/EBP-alpha ClinVar:CEBPA Ensembl:ENSG00000245848 Genatlas:CEBPA HGNC:1833 OMIM:116897 Reactome:P49715 SwissProt:P49715 CEBPA CCAAT enhancer binding protein alpha 11p15.4 HBG-T2 fetal hemoglobin F subunit gamma 1 ClinVar:HBG1 Ensembl:ENSG00000213934 Genatlas:HBG1 HGNC:4831 OMIM:142200 Reactome:P69891 SwissProt:P69891 HBG1 hemoglobin subunit gamma 1 11p15.4 HBG-T1 fetal hemoglobin F subunit gamma 2 ClinVar:HBG2 Ensembl:ENSG00000196565 Genatlas:HBG2 HGNC:4832 OMIM:142250 Reactome:P69892 SwissProt:P69892 HBG2 hemoglobin subunit gamma 2 ANKRD11-related disorder Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537015 MedDRA:10084411 OMIM:148050 UMLS:C0220687 Autosomal dominant Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 164.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2332 KBG syndrome ORPHA:2332 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537015 E (Exact mapping: the two concepts are equivalent) MedDRA:10084411 E (Exact mapping: the two concepts are equivalent) OMIM:148050 E (Exact mapping: the two concepts are equivalent) UMLS:C0220687 E (Exact mapping: the two concepts are equivalent) Kenny syndrome A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter. Orphanet ICD-10:Q87.1 MedDRA:10073228 OMIM:127000 OMIM:244460 UMLS:C0265291 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 65.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2333 Kenny-Caffey syndrome ORPHA:2333 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10073228 E (Exact mapping: the two concepts are equivalent) OMIM:127000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:244460 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265291 E (Exact mapping: the two concepts are equivalent) Hereditary keratitis A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia. Orphanet ICD-10:H16.8 ICD-11:9A7Y MeSH:C537022 OMIM:148190 UMLS:C1835698 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2334 Autosomal dominant keratitis ORPHA:2334 ICD-10:H16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537022 E (Exact mapping: the two concepts are equivalent) OMIM:148190 E (Exact mapping: the two concepts are equivalent) UMLS:C1835698 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Isolated keratoconus ORPHA:2335 UMLS:C5680923 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=233655 Rare genetic vascular disease Category ORPHA:233655 UMLS:C5680923 E (Exact mapping: the two concepts are equivalent) Diffuse palmoplantar keratoderma, Bothnia type NEPPK, Bothnia type NEPPK, Bothnian type A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 OMIM:600231 UMLS:C4274840 Autosomal dominant Childhood Infancy Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2337 Diffuse palmoplantar keratoderma, Bothnian type ORPHA:2337 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600231 E (Exact mapping: the two concepts are equivalent) UMLS:C4274840 E (Exact mapping: the two concepts are equivalent) Isolated punctate PPK Isolated punctate palmoplantar hyperkeratosis UMLS:C5679617 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2338 Isolated punctate palmoplantar keratoderma Clinical group ORPHA:2338 UMLS:C5679617 E (Exact mapping: the two concepts are equivalent) A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q87.1 MeSH:C536158 OMIM:308830 UMLS:C4510086 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536158 E (Exact mapping: the two concepts are equivalent) OMIM:308830 E (Exact mapping: the two concepts are equivalent) UMLS:C4510086 E (Exact mapping: the two concepts are equivalent) Dubin-Sprinz disease Hyperbilirubinemia type 2 Sprinz-Nelson syndrome Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. Orphanet ICD-10:E80.6 ICD-11:5C58.02 MeSH:D007566 MedDRA:10013800 OMIM:237500 UMLS:C0022350 Autosomal recessive Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=234 Dubin-Johnson syndrome ORPHA:234 ICD-10:E80.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007566 E (Exact mapping: the two concepts are equivalent) MedDRA:10013800 E (Exact mapping: the two concepts are equivalent) OMIM:237500 E (Exact mapping: the two concepts are equivalent) UMLS:C0022350 E (Exact mapping: the two concepts are equivalent) Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. Orphanet ICD-10:Q82.8 ICD-11:ED56 MeSH:C536159 OMIM:308800 OMIM:604093 OMIM:612843 UMLS:C0343057 Autosomal dominant Autosomal recessive X-linked recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2340 Keratosis follicularis spinulosa decalvans ORPHA:2340 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536159 E (Exact mapping: the two concepts are equivalent) OMIM:308800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604093 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:612843 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0343057 E (Exact mapping: the two concepts are equivalent) Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Orphanet ICD-10:Q82.8 MeSH:C537627 OMIM:245010 UMLS:C1855627 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2342 Haim-Munk syndrome ORPHA:2342 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537627 E (Exact mapping: the two concepts are equivalent) OMIM:245010 E (Exact mapping: the two concepts are equivalent) UMLS:C1855627 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic non-specific multisutural craniosynostosis OBSOLETE: Isolated cloverleaf skull syndrome ORPHA:2343 Congenital cervical vertebral fusion Congenital fused cervical segments Klippel-Feil malformation Klippel-Feil sequence Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. Orphanet ICD-10:Q76.1 ICD-11:LB73.20 MeSH:D007714 MedDRA:10023464 OMIM:118100 OMIM:214300 OMIM:613702 UMLS:C0022738 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2345 Isolated Klippel-Feil syndrome ORPHA:2345 ICD-10:Q76.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB73.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007714 E (Exact mapping: the two concepts are equivalent) MedDRA:10023464 E (Exact mapping: the two concepts are equivalent) OMIM:118100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:214300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613702 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0022738 E (Exact mapping: the two concepts are equivalent) Klippel-Trénaunay-Weber syndrome A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. Orphanet ICD-11:LD26.60 MeSH:D007715 MedDRA:10051452 OMIM:149000 OMIM:608354 OMIM:608355 UMLS:C0022739 Autosomal dominant Not applicable Adolescent Childhood Infancy Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2346 Angioosteohypertrophic syndrome Clinical group ORPHA:2346 ICD-11:LD26.60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007715 E (Exact mapping: the two concepts are equivalent) MedDRA:10051452 E (Exact mapping: the two concepts are equivalent) OMIM:149000 E (Exact mapping: the two concepts are equivalent) OMIM:608354 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608355 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0022739 E (Exact mapping: the two concepts are equivalent) A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q77.8 MeSH:C537208 OMIM:245190 UMLS:C1855605 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2347 Lethal Kniest-like dysplasia ORPHA:2347 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537208 E (Exact mapping: the two concepts are equivalent) OMIM:245190 E (Exact mapping: the two concepts are equivalent) UMLS:C1855605 E (Exact mapping: the two concepts are equivalent) Dunnigan syndrome FPLD2 Familial partial lipodystrophy type 2 A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Orphanet ICD-10:E88.1 ICD-11:5A44 OMIM:151660 UMLS:C1720860 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2348 Familial partial lipodystrophy, Dunnigan type ORPHA:2348 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:151660 E (Exact mapping: the two concepts are equivalent) UMLS:C1720860 E (Exact mapping: the two concepts are equivalent) Hoffmann syndrome Kocher-Debré-Semelaigne syndrome Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term). Orphanet ICD-10:E03.1 ICD-11:5A00.0Y MeSH:C537211 UMLS:C0270958 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2349 Muscular pseudohypertrophy-hypothyroidism syndrome ORPHA:2349 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537211 E (Exact mapping: the two concepts are equivalent) UMLS:C0270958 E (Exact mapping: the two concepts are equivalent) Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. Orphanet ICD-10:Q87.1 ICD-11:LD27.0Y MeSH:C535718 MedDRA:10059589 OMIM:223370 UMLS:C0175691 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=235 Dubowitz syndrome ORPHA:235 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535718 E (Exact mapping: the two concepts are equivalent) MedDRA:10059589 E (Exact mapping: the two concepts are equivalent) OMIM:223370 E (Exact mapping: the two concepts are equivalent) UMLS:C0175691 E (Exact mapping: the two concepts are equivalent) Sacral meningocele-conotruncal heart defects syndrome A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Orphanet ICD-10:Q87.8 MeSH:C537223 UMLS:C2931444 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2351 Kousseff syndrome ORPHA:2351 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537223 E (Exact mapping: the two concepts are equivalent) UMLS:C2931444 E (Exact mapping: the two concepts are equivalent) 11q24.3 CIR G protein-activated inward rectifier potassium channel 4 GIRK4 KATP1 Kir3.4 LQT13 ClinVar:KCNJ5 Ensembl:ENSG00000120457 Genatlas:KCNJ5 HGNC:6266 IUPHAR:437 OMIM:600734 Reactome:P48544 SwissProt:P48544 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 9q34.11 alpha-fodrin ClinVar:SPTAN1 Ensembl:ENSG00000197694 Genatlas:SPTAN1 HGNC:11273 OMIM:182810 Reactome:Q13813 SwissProt:Q13813 SPTAN1 spectrin alpha, non-erythrocytic 1 10q24.2 HPA2 HPR2 ClinVar:HPSE2 Ensembl:ENSG00000172987 Genatlas:HPSE2 HGNC:18374 OMIM:613469 Reactome:Q8WWQ2 SwissProt:Q8WWQ2 HPSE2 heparanase 2 (inactive) 11q12.2 B1 Bp35 FMC7 MS4A2 ClinVar:MS4A1 Ensembl:ENSG00000156738 Genatlas:MS4A1 HGNC:7315 IUPHAR:2628 OMIM:112210 Reactome:P11836 SwissProt:P11836 MS4A1 membrane spanning 4-domains A1 11p15.5 S5.7 TAPA-1 TSPAN28 Tetraspanin-28 ClinVar:CD81 Ensembl:ENSG00000110651 Genatlas:CD81 HGNC:1701 OMIM:186845 Reactome:P60033 SwissProt:P60033 CD81 CD81 molecule This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Shprintzen-Goldberg syndrome MeSH:C537506 UMLS:C2931511 Kozlowski-Brown-Hardwick syndrome ORPHA:2352 MeSH:C537506 E (Exact mapping: the two concepts are equivalent) UMLS:C2931511 E (Exact mapping: the two concepts are equivalent) 3q27.3 crystallin, gamma 8 ClinVar:CRYGS Ensembl:ENSG00000213139 Genatlas:CRYGS HGNC:2417 OMIM:123730 SwissProt:P22914 CRYGS crystallin gamma S 3q21.3-q22.1 CFAP80 FAP80 SPG WDR10p WDR140 ClinVar:IFT122 Ensembl:ENSG00000163913 Genatlas:IFT122 HGNC:13556 OMIM:606045 Reactome:Q9HBG6 SwissProt:Q9HBG6 IFT122 intraflagellar transport 122 BRSS Hypotelorism-cleft palate-hypospadias syndrome Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C563509 OMIM:164220 UMLS:C1834038 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2353 Schilbach-Rott syndrome ORPHA:2353 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563509 E (Exact mapping: the two concepts are equivalent) OMIM:164220 E (Exact mapping: the two concepts are equivalent) UMLS:C1834038 E (Exact mapping: the two concepts are equivalent) Nail dysplasia-camptodactyly-brachydactyly type B syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cooks syndrome OMIM:106990 Kumar-Levick syndrome ORPHA:2355 OMIM:106990 E (Exact mapping: the two concepts are equivalent) 17q21.31 E1A enhancer binding protein E1A-F E1AF PEA3 ClinVar:ETV4 Ensembl:ENSG00000175832 Genatlas:ETV4 HGNC:3493 OMIM:600711 Reactome:P43268 SwissProt:P43268 ETV4 ETS variant transcription factor 4 A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic. Orphanet ICD-10:G93.0 ICD-11:8D67 MeSH:D016080 MedDRA:10049005 OMIM:182990 OMIM:207790 UMLS:C0078981 Autosomal recessive Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2356 Arachnoid cyst ORPHA:2356 ICD-10:G93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8D67 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016080 E (Exact mapping: the two concepts are equivalent) MedDRA:10049005 E (Exact mapping: the two concepts are equivalent) OMIM:182990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:207790 E (Exact mapping: the two concepts are equivalent) UMLS:C0078981 E (Exact mapping: the two concepts are equivalent) Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. Orphanet ICD-10:J98.4 ICD-11:CB40.Y MeSH:D001994 MedDRA:10064585 UMLS:C0006281 Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2357 Bronchogenic cyst ORPHA:2357 ICD-10:J98.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D001994 E (Exact mapping: the two concepts are equivalent) MedDRA:10064585 E (Exact mapping: the two concepts are equivalent) UMLS:C0006281 E (Exact mapping: the two concepts are equivalent) ICD-11:LD26.6 UMLS:C5680924 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=235832 Congenital vascular bone syndrome Clinical group ORPHA:235832 ICD-11:LD26.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680924 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital vascular bone syndrome OBSOLETE: Congenital vascular bone syndrome with limb overgrowth ORPHA:235835 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital vascular bone syndrome OBSOLETE: Congenital vascular bone syndrome with limb shortening ORPHA:235838 FH A group of rare primary aldosteronism characterized by hyperaldosteronism, hypertension, hypokalemia and low plasma renin activity. Clinical symptoms and their severity vary according to the type of hyperaldosteronism and may include abnormal production of 18-oxocortisol and 18-hydroxycortisol, headaches, nausea, fatigue, muscle weakness, cardiovascular complications due to aldosterone excess, polydipsia, polyuria, bilateral adrenal hyperplasia, developmental delay, learning disabilities and behavioral abnormalities. Orphanet MeSH:C580087 UMLS:C3713420 Autosomal dominant All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=235936 Familial hyperaldosteronism Clinical group ORPHA:235936 MeSH:C580087 E (Exact mapping: the two concepts are equivalent) UMLS:C3713420 E (Exact mapping: the two concepts are equivalent) Duplication 9p Duplication of the short arm of chromosome 9 Trisomy of the short arm of chromosome 9 Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. Orphanet ICD-10:Q92.2 ICD-11:LD41.81 UMLS:C0265428 Antenatal Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=236 Trisomy 9p syndrome ORPHA:236 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265428 E (Exact mapping: the two concepts are equivalent) LADD syndrome LARD syndrome Lacrimoauriculoradiodental syndrome Levy-Hollister syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C538132 MedDRA:10085252 OMIM:149730 OMIM:620192 OMIM:620193 UMLS:C0265269 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2363 Lacrimoauriculodentodigital syndrome ORPHA:2363 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538132 E (Exact mapping: the two concepts are equivalent) MedDRA:10085252 E (Exact mapping: the two concepts are equivalent) OMIM:149730 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620192 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620193 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265269 E (Exact mapping: the two concepts are equivalent) GSD due to lactate dehydrogenase deficiency Glycogenosis due to lactate dehydrogenase deficiency LDH deficiency A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance. Orphanet ICD-10:E74.4 ICD-11:5C51.3 OMIM:612933 OMIM:614128 UMLS:C5575057 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2364 Glycogen storage disease due to lactate dehydrogenase deficiency ORPHA:2364 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612933 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614128 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5575057 E (Exact mapping: the two concepts are equivalent) 12q13.13 OSX osterix ClinVar:SP7 Ensembl:ENSG00000170374 Genatlas:SP7 HGNC:17321 OMIM:606633 Reactome:Q8TDD2 SwissProt:Q8TDD2 SP7 Sp7 transcription factor 6p12.3 CMS Cas ligand with multiple Src homology (SH) 3 domains ClinVar:CD2AP Ensembl:ENSG00000198087 Genatlas:CD2AP HGNC:14258 OMIM:604241 Reactome:Q9Y5K6 SwissProt:Q9Y5K6 CD2AP CD2 associated protein Laparoschisis A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac. Orphanet ICD-10:Q79.3 ICD-11:LB02 MeSH:D020139 MedDRA:10018046 OMIM:230750 UMLS:C0265706 Not applicable Antenatal Austria AND has_birth_prevalence_average_value : 29.4 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 22.7 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 16.9 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 17.7 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 41.6 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 18.1 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 9.9 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 25.8 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 36.0 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 5.6 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.3 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 9.5 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 36.3 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2368 Gastroschisis ORPHA:2368 ICD-10:Q79.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020139 E (Exact mapping: the two concepts are equivalent) MedDRA:10018046 E (Exact mapping: the two concepts are equivalent) OMIM:230750 E (Exact mapping: the two concepts are equivalent) UMLS:C0265706 E (Exact mapping: the two concepts are equivalent) Body stalk anomaly LBWC syndrome Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y UMLS:C4274839 Not applicable Infancy Neonatal Australia AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2369 Limb body wall complex ORPHA:2369 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274839 E (Exact mapping: the two concepts are equivalent) 17q23.3 B-cell antigen receptor complex-associated protein beta chain B29 Ig-beta Igbeta ClinVar:CD79B Ensembl:ENSG00000007312 Genatlas:CD79B HGNC:1699 IUPHAR:2852 OMIM:147245 Reactome:P40259 SwissProt:P40259 CD79B CD79b molecule 10q24.1 B cell adaptor containing SH2 domain B-cell activation B-cell adapter containing a SH2 domain protein BASH BLNK-s Ly57 SLP-65 SLP65 Src homology [SH2] domain-containing leukocyte protein of 65 kD bca ClinVar:BLNK Ensembl:ENSG00000095585 Genatlas:BLNK HGNC:14211 OMIM:604515 Reactome:Q8WV28 SwissProt:Q8WV28 BLNK B cell linker A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. Orphanet ICD-10:Q64.7 ICD-11:LB31.5 UMLS:C0266348 Infancy Neonatal Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=237 Duplication of urethra ORPHA:237 ICD-10:Q64.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB31.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0266348 E (Exact mapping: the two concepts are equivalent) Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. Orphanet ICD-10:Q74.8 ICD-11:LD24.E OMIM:608545 UMLS:C4707236 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2370 Larsen-like osseous dysplasia-short stature syndrome ORPHA:2370 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608545 E (Exact mapping: the two concepts are equivalent) UMLS:C4707236 E (Exact mapping: the two concepts are equivalent) A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. Orphanet ICD-10:Q74.8 ICD-11:LD24.E MeSH:C537872 OMIM:245650 UMLS:C4304741 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2371 Lethal Larsen-like syndrome ORPHA:2371 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537872 E (Exact mapping: the two concepts are equivalent) OMIM:245650 E (Exact mapping: the two concepts are equivalent) UMLS:C4304741 E (Exact mapping: the two concepts are equivalent) A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected. Orphanet ICD-10:Q31.3 ICD-11:LA71.1 MeSH:D059608 MedDRA:10023885 UMLS:C0265761 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2372 Laryngocele ORPHA:2372 ICD-10:Q31.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA71.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D059608 E (Exact mapping: the two concepts are equivalent) MedDRA:10023885 E (Exact mapping: the two concepts are equivalent) UMLS:C0265761 E (Exact mapping: the two concepts are equivalent) A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress. Orphanet ICD-10:Q31.5 ICD-11:LA71.0 MeSH:D055092 MedDRA:10060786 OMIM:150280 UMLS:C0345160 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2373 Congenital laryngomalacia ORPHA:2373 ICD-10:Q31.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA71.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D055092 E (Exact mapping: the two concepts are equivalent) MedDRA:10060786 E (Exact mapping: the two concepts are equivalent) OMIM:150280 E (Exact mapping: the two concepts are equivalent) UMLS:C0345160 E (Exact mapping: the two concepts are equivalent) A rare laryngeal malformation characterized by a membrane-like structure of variable thickness that extends across the laryngeal lumen, between the vocal cords. Orphanet ICD-10:Q31.0 ICD-11:LA71.Y MedDRA:10023871 OMIM:150360 UMLS:C0152416 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2374 Isolated congenital laryngeal web ORPHA:2374 ICD-10:Q31.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10023871 E (Exact mapping: the two concepts are equivalent) OMIM:150360 E (Exact mapping: the two concepts are equivalent) UMLS:C0152416 E (Exact mapping: the two concepts are equivalent) 7p14.2 ClinVar:TBX20 Ensembl:ENSG00000164532 Genatlas:TBX20 HGNC:11598 OMIM:606061 SwissProt:Q9UMR3 TBX20 T-box transcription factor 20 4q32.3 ClinVar:TLL1 Ensembl:ENSG00000038295 Genatlas:TLL1 HGNC:11843 OMIM:606742 Reactome:O43897 SwissProt:O43897 TLL1 tolloid like 1 Plott syndrome A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features. Orphanet ICD-10:J38.0 OMIM:308850 UMLS:C4319572 X-linked recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2375 Laryngeal abductor paralysis-intellectual disability syndrome ORPHA:2375 ICD-10:J38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:308850 E (Exact mapping: the two concepts are equivalent) UMLS:C4319572 E (Exact mapping: the two concepts are equivalent) LMS A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap. Orphanet ICD-10:Q87.8 ICD-11:LD90.Y MeSH:D007849 MedDRA:10056710 OMIM:245800 UMLS:C0023138 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2377 Laurence-Moon syndrome ORPHA:2377 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007849 E (Exact mapping: the two concepts are equivalent) MedDRA:10056710 E (Exact mapping: the two concepts are equivalent) OMIM:245800 E (Exact mapping: the two concepts are equivalent) UMLS:C0023138 E (Exact mapping: the two concepts are equivalent) Mirror hands and feets-nasal defects syndrome Sandrow syndrome Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Orphanet ICD-10:Q87.2 ICD-11:LD26.2 MeSH:C535689 OMIM:135750 UMLS:C1851100 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2378 Laurin-Sandrow syndrome ORPHA:2378 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535689 E (Exact mapping: the two concepts are equivalent) OMIM:135750 E (Exact mapping: the two concepts are equivalent) UMLS:C1851100 E (Exact mapping: the two concepts are equivalent) Laxova-Opitz syndrome Waisman syndrome A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Orphanet ICD-10:G20 ICD-11:LD90.1 MeSH:C537179 OMIM:311510 UMLS:C0796195 X-linked recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2379 Early-onset parkinsonism-intellectual disability syndrome ORPHA:2379 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537179 E (Exact mapping: the two concepts are equivalent) OMIM:311510 E (Exact mapping: the two concepts are equivalent) UMLS:C0796195 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic intestinal malformation OBSOLETE: Digestive duplication ORPHA:238 Aseptic necrosis of the capital femoral epiphysis Osteochondrosis of the capital femoral epiphysis Perthes disease A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. Orphanet ICD-10:M91.1 ICD-11:FB82.1 MeSH:D007873 MedDRA:10034735 OMIM:150600 UMLS:C0023234 Autosomal dominant Multigenic/multifactorial Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2380 Legg-Calvé-Perthes disease ORPHA:2380 ICD-10:M91.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007873 E (Exact mapping: the two concepts are equivalent) MedDRA:10034735 E (Exact mapping: the two concepts are equivalent) OMIM:150600 E (Exact mapping: the two concepts are equivalent) UMLS:C0023234 E (Exact mapping: the two concepts are equivalent) A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities. Orphanet ICD-10:G40.4 ICD-11:8A62.1 MeSH:D065768 MedDRA:10048816 OMIM:615369 OMIM:616346 OMIM:617113 OMIM:618141 UMLS:C0238111 Autosomal dominant Multigenic/multifactorial Not applicable Childhood Infancy Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2382 Lennox-Gastaut syndrome ORPHA:2382 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8A62.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065768 E (Exact mapping: the two concepts are equivalent) MedDRA:10048816 E (Exact mapping: the two concepts are equivalent) OMIM:615369 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616346 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617113 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618141 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0238111 E (Exact mapping: the two concepts are equivalent) Apolipoprotein A-II amyloidosis Familial amyloid nephropathy due to apolipoprotein A-II variant Familial renal amyloidosis due to apolipoprotein A-II variant Hereditary amyloid nephropathy due to apolipoprotein A-II variant Hereditary renal amyloidosis due to apolipoprotein A-II variant A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described. Orphanet ICD-10:E85.0 ICD-11:5D00.2Y UMLS:C5679845 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238269 AApoAII amyloidosis Clinical subtype ORPHA:238269 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679845 E (Exact mapping: the two concepts are equivalent) A type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism. Orphanet ICD-10:E23.6 UMLS:C5190834 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238305 Infundibulo-neurohypophysitis ORPHA:238305 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190834 E (Exact mapping: the two concepts are equivalent) Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:300816 UMLS:C4302745 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238329 Severe X-linked mitochondrial encephalomyopathy ORPHA:238329 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300816 E (Exact mapping: the two concepts are equivalent) UMLS:C4302745 E (Exact mapping: the two concepts are equivalent) 15q11q13 duplication syndrome Dup(15)(q11q13) Trisomy 15q11q13 The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. Orphanet ICD-10:Q92.3 ICD-11:LD41.E MeSH:C557830 OMIM:608636 UMLS:C4304726 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238446 15q11q13 microduplication syndrome ORPHA:238446 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C557830 E (Exact mapping: the two concepts are equivalent) OMIM:608636 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304726 E (Exact mapping: the two concepts are equivalent) DTDS Dopamine transporter deficiency syndrome IPD PKDYS Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. Orphanet ICD-10:G24.8 ICD-11:8A02.12 MeSH:C567730 OMIM:613135 UMLS:C2751067 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238455 Infantile dystonia-parkinsonism ORPHA:238455 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567730 E (Exact mapping: the two concepts are equivalent) OMIM:613135 E (Exact mapping: the two concepts are equivalent) UMLS:C2751067 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIf CDG-IIf CDG2F CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf Congenital disorder of glycosylation type 2f Congenital disorder of glycosylation type IIf SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C567040 OMIM:603585 UMLS:C1970344 No data available Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238459 SLC35A1-CDG ORPHA:238459 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567040 E (Exact mapping: the two concepts are equivalent) OMIM:603585 E (Exact mapping: the two concepts are equivalent) UMLS:C1970344 E (Exact mapping: the two concepts are equivalent) Anhidrotic ectodermal dysplasia HED A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features. Orphanet ICD-10:Q82.4 ICD-11:LD27.02 OMIM:129490 OMIM:224900 OMIM:300291 OMIM:305100 OMIM:612132 OMIM:614940 OMIM:614941 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238468 Hypohidrotic ectodermal dysplasia ORPHA:238468 ICD-10:Q82.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD27.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:129490 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:224900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300291 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612132 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614940 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614941 BTNT (ORPHAcode is broader than the targeted code used to represent it) Hereditary hypercholanemia Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. Orphanet ICD-10:E88.8 OMIM:607748 OMIM:619232 OMIM:619256 UMLS:C1843139 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238475 Familial hypercholanemia ORPHA:238475 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607748 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619232 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619256 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1843139 E (Exact mapping: the two concepts are equivalent) Autosomal recessive lymphoproliferative disease due to CD27 deficiency CD27 deficiency A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed. Orphanet ICD-10:D47.9 OMIM:615122 UMLS:C3554540 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238505 Combined immunodeficiency due to CD27 deficiency ORPHA:238505 ICD-10:D47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615122 E (Exact mapping: the two concepts are equivalent) UMLS:C3554540 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited cancer-predisposing lymphoproliferative syndrome OBSOLETE: Lymphoproliferative syndrome ORPHA:238510 ICD-11:GB90.40 UMLS:C5680931 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238517 Hypotonia-cystinuria type 1 syndrome Clinical group ORPHA:238517 ICD-11:GB90.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680931 E (Exact mapping: the two concepts are equivalent) Atypical HCS A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). Orphanet ICD-10:E72.0 ICD-11:GB90.40 OMIM:606407 UMLS:C4755274 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238523 Atypical hypotonia-cystinuria syndrome ORPHA:238523 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606407 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4755274 E (Exact mapping: the two concepts are equivalent) Congenital secondary erythrocytosis UMLS:C5679848 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238536 Congenital secondary polycythemia Category ORPHA:238536 UMLS:C5679848 E (Exact mapping: the two concepts are equivalent) 5q15 SKI complex component SKI3 (S. cerevisiae) SKI3 THES thespin ClinVar:TTC37 Ensembl:ENSG00000198677 Genatlas:TTC37 HGNC:23639 OMIM:614589 Reactome:Q6PGP7 SwissProt:Q6PGP7 SKIC3 SKI3 subunit of superkiller complex Acquired secondary erythrocytosis Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238547 Acquired secondary polycythemia Category ORPHA:238547 Chuvash polycythemia Von Hippel-Lindau-dependent polycythemia Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. Orphanet ICD-10:D75.1 ICD-11:3A80.0 OMIM:263400 UMLS:C4749274 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238557 Chuvash erythrocytosis ORPHA:238557 ICD-10:D75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:263400 E (Exact mapping: the two concepts are equivalent) UMLS:C4749274 E (Exact mapping: the two concepts are equivalent) IL10-related early-onset IBD IL10-related early-onset inflammatory bowel disease A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. Orphanet ICD-10:K52.8 OMIM:612567 OMIM:613148 UMLS:C4749850 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ORPHA:238569 ICD-10:K52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612567 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613148 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749850 E (Exact mapping: the two concepts are equivalent) Hereditary clubfoot due to 17q23.1-q23.2 microduplication 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. Orphanet ICD-10:Q66.8 ICD-11:LD41.G0 OMIM:613618 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238578 Familial clubfoot due to 17q23.1q23.2 microduplication Etiological subtype ORPHA:238578 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613618 E (Exact mapping: the two concepts are equivalent) Hyperphenylalaninemia due to BH4 deficiency A disorder of pterin metabolism characterized by tetrahydrobiopterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Orphanet ICD-10:E70.1 OMIM:233910 OMIM:261630 OMIM:261640 OMIM:264070 UMLS:C0751436 Autosomal recessive Infancy Neonatal Brazil AND has_point_prevalence_average_value : 0.21 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency ORPHA:238583 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:233910 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:261630 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:261640 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:264070 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751436 E (Exact mapping: the two concepts are equivalent) Isolated mesenteric lipodystrophy Lipomatous mesenteritis Liposclerotic mesenteritis Mesenteric lipogranuloma Mesenteric panniculitis Sclerosing mesenteritis Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate). Orphanet ICD-10:K65.8 ICD-11:4A43.0 MedDRA:10063031 UMLS:C0267770 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238593 IgG4-related mesenteritis Clinical subtype ORPHA:238593 ICD-10:K65.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10063031 E (Exact mapping: the two concepts are equivalent) UMLS:C0267770 E (Exact mapping: the two concepts are equivalent) Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. Orphanet ICD-10:Q82.8 UMLS:C4749769 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2386 Leukoencephalopathy-palmoplantar keratoderma syndrome ORPHA:2386 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749769 E (Exact mapping: the two concepts are equivalent) POT A rare tremor disorder characterized by an isolated high frequency (>12 Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing. Orphanet ICD-10:G25.2 ICD-11:8A04.1 MeSH:C536418 UMLS:C0878578 Not applicable Adult Worldwide AND has_cases/families_value : 390.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238606 Primary orthostatic tremor ORPHA:238606 ICD-10:G25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A04.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536418 E (Exact mapping: the two concepts are equivalent) UMLS:C0878578 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.3 ICD-11:LD2C OMIM:130650 UMLS:C5680933 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238613 Beckwith-Wiedemann syndrome due to NSD1 mutation Etiological subtype ORPHA:238613 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:130650 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680933 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Alzheimer disease ORPHA:238616 A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time, with a significant negative impact on the quality of life of the patient. Orphanet ICD-10:K91.8 UMLS:C5680932 Not applicable All ages Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238621 Ileal pouch anal anastomosis related faecal incontinence ORPHA:238621 ICD-10:K91.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680932 E (Exact mapping: the two concepts are equivalent) Benign intracranial hypertension IIH Pseudotumor cerebri Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible. Orphanet ICD-10:G93.2 ICD-11:8D60.Y MeSH:D011559 MedDRA:10078904 OMIM:243200 UMLS:C0033845 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238624 Idiopathic intracranial hypertension ORPHA:238624 ICD-10:G93.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8D60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011559 E (Exact mapping: the two concepts are equivalent) MedDRA:10078904 E (Exact mapping: the two concepts are equivalent) OMIM:243200 E (Exact mapping: the two concepts are equivalent) UMLS:C0033845 E (Exact mapping: the two concepts are equivalent) Megaureter-megacystis syndrome Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. Orphanet ICD-10:Q62.7 ICD-11:LB31.7 UMLS:C0431752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238637 Megacystis-megaureter syndrome ORPHA:238637 ICD-10:Q62.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0431752 E (Exact mapping: the two concepts are equivalent) ICD-10:Q62.2 ICD-11:LB31.1 UMLS:C5680937 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238642 Primary megaureter, adult-onset form Clinical subtype ORPHA:238642 ICD-10:Q62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680937 E (Exact mapping: the two concepts are equivalent) ICD-10:Q62.2 ICD-11:LB31.1 UMLS:C5680936 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238646 Congenital primary megaureter, obstructed form Clinical subtype ORPHA:238646 ICD-10:Q62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680936 E (Exact mapping: the two concepts are equivalent) ICD-10:Q62.2 ICD-11:LB31.1 UMLS:C5680935 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238650 Congenital primary megaureter, refluxing form Clinical subtype ORPHA:238650 ICD-10:Q62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680935 E (Exact mapping: the two concepts are equivalent) ICD-10:Q62.2 ICD-11:LB31.1 UMLS:C5680934 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238654 Congenital primary megaureter, nonrefluxing and unobstructed form Clinical subtype ORPHA:238654 ICD-10:Q62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680934 E (Exact mapping: the two concepts are equivalent) Gonadotropic deficiency Isolated congenital gonadotropin deficiency Isolated gonadotropin-releasing hormone deficiency A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome). Orphanet ICD-10:E23.0 ICD-11:5A61.0 UMLS:C5679849 Autosomal dominant Autosomal recessive Oligogenic Unknown X-linked recessive Adolescent Infancy Neonatal Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238666 Isolated congenital hypogonadotropic hypogonadism ORPHA:238666 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679849 E (Exact mapping: the two concepts are equivalent) Isolated TRF deficiency Isolated TRH deficiency Isolated TSH-releasing factor deficiency Isolated prothyroliberin deficiency Isolated protirelin deficiency Isolated thyroliberin deficiency Isolated thyrotropin-releasing factor deficiency ICD-10:E03.1 ICD-11:5A00.01 OMIM:275120 UMLS:C0271585 Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238670 Isolated thyrotropin-releasing hormone deficiency ORPHA:238670 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:275120 E (Exact mapping: the two concepts are equivalent) UMLS:C0271585 E (Exact mapping: the two concepts are equivalent) Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates. Orphanet ICD-10:P72.2 ICD-11:5A00.03 UMLS:C4751432 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238688 Neonatal iodine exposure ORPHA:238688 ICD-10:P72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4751432 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Congenital hepatic hemangioma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital hemangioma OBSOLETE: Congenital liver hemangioma ORPHA:238691 UMLS:C5680929 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238696 Transient congenital hypothyroidism due to maternal factor Category ORPHA:238696 UMLS:C5680929 E (Exact mapping: the two concepts are equivalent) ICD-10:P72.2 UMLS:C5680930 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238699 Transient congenital hypothyroidism due to neonatal factor Category ORPHA:238699 ICD-10:P72.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680930 E (Exact mapping: the two concepts are equivalent) Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. Orphanet ICD-10:Q84.4 ICD-11:EC22.0 MeSH:C535889 OMIM:151600 UMLS:C4551625 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2387 Leukonychia totalis ORPHA:2387 ICD-10:Q84.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535889 E (Exact mapping: the two concepts are equivalent) OMIM:151600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4551625 E (Exact mapping: the two concepts are equivalent) Familial congenital controlateral synkinesia Hereditary congenital controlateral synkinesia Hereditary congenital mirror movements Isolated congenital controlateral synkinesia Isolated congenital mirror movements A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities. Orphanet ICD-10:G25.8 ICD-11:8A0Y OMIM:157600 OMIM:614508 OMIM:616059 OMIM:618264 UMLS:C5191311 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 75.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238722 Familial congenital mirror movements ORPHA:238722 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:157600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614508 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616059 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618264 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5191311 E (Exact mapping: the two concepts are equivalent) MDN syndrome Onycho-digito-mammary syndrome Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Orphanet ICD-10:Q87.2 OMIM:613689 UMLS:C3150946 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238744 Mammary-digital-nail syndrome ORPHA:238744 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613689 E (Exact mapping: the two concepts are equivalent) UMLS:C3150946 E (Exact mapping: the two concepts are equivalent) Del(4)(q21) Monosomy 4q21 The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. Orphanet ICD-10:Q93.5 ICD-11:LD44.40 OMIM:613509 UMLS:C4304530 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238750 4q21 microdeletion syndrome ORPHA:238750 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613509 E (Exact mapping: the two concepts are equivalent) UMLS:C4304530 E (Exact mapping: the two concepts are equivalent) OBSOLETE: LGMD1H This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Progressive muscular dystrophy OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H ORPHA:238755 Megalocornea-spherophakia-secondary glaucoma syndrome Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Orphanet ICD-10:Q15.8 OMIM:251750 UMLS:C5190883 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea ORPHA:238763 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:251750 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190883 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 8q21.11 microdeletion syndrome Ptosis-syndactyly-learning difficulties syndrome ORPHA:238766 Del(1)(q44) Monosomy 1q44 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Orphanet ICD-10:Q93.5 ICD-11:LD44.10 UMLS:C4304540 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=238769 1q44 microdeletion syndrome ORPHA:238769 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304540 E (Exact mapping: the two concepts are equivalent) ChAc Chorea-acanthocytosis Levine-Critchley syndrome Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. Orphanet ICD-10:E78.6 ICD-11:3A10.Y MedDRA:10081505 OMIM:200150 UMLS:C0393576 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2388 Choreoacanthocytosis ORPHA:2388 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081505 E (Exact mapping: the two concepts are equivalent) OMIM:200150 E (Exact mapping: the two concepts are equivalent) UMLS:C0393576 E (Exact mapping: the two concepts are equivalent) Cleft lip/palate-ectrodactyly syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to EEC syndrome Lewis-Pashayan syndrome ORPHA:2389 2q37.3 HA6116 HD4 HDAC-4 HDAC-A HDACA KIAA0288 ClinVar:HDAC4 Ensembl:ENSG00000068024 Genatlas:HDAC4 HGNC:14063 IUPHAR:2659 OMIM:605314 Reactome:P56524 SwissProt:P56524 HDAC4 histone deacetylase 4 17q25.3 RP57 ClinVar:PDE6G Ensembl:ENSG00000185527 Genatlas:PDE6G HGNC:8789 IUPHAR:1316 OMIM:180073 Reactome:P18545 SwissProt:P18545 PDE6G phosphodiesterase 6G A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests) Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535726 OMIM:223800 OMIM:304950 UMLS:C0265286 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=239 Dyggve-Melchior-Clausen disease ORPHA:239 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535726 E (Exact mapping: the two concepts are equivalent) OMIM:223800 E (Exact mapping: the two concepts are equivalent) OMIM:304950 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265286 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. Orphanet ICD-10:D70 MeSH:C535894 OMIM:246550 UMLS:C1855502 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2390 Lichtenstein syndrome ORPHA:2390 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535894 E (Exact mapping: the two concepts are equivalent) OMIM:246550 E (Exact mapping: the two concepts are equivalent) UMLS:C1855502 E (Exact mapping: the two concepts are equivalent) 3q12.3 IPM200 RP56 SPACRCAN ClinVar:IMPG2 Ensembl:ENSG00000081148 Genatlas:IMPG2 HGNC:18362 OMIM:607056 SwissProt:Q9BZV3 IMPG2 interphotoreceptor matrix proteoglycan 2 12q13.12 ALL1-related ALR CAGL114 MLL4 histone-lysine N-methyltransferase 2D ClinVar:KMT2D Ensembl:ENSG00000167548 Genatlas:KMT2D HGNC:7133 IUPHAR:2691 OMIM:602113 Reactome:O14686 SwissProt:O14686 KMT2D lysine methyltransferase 2D 2q37.3 DERMO1 Dermo-1 bHLHa39 ClinVar:TWIST2 Ensembl:ENSG00000233608 Genatlas:TWIST2 HGNC:20670 OMIM:607556 Reactome:Q8WVJ9 SwissProt:Q8WVJ9 TWIST2 twist family bHLH transcription factor 2 A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:Q68.8 MeSH:C536448 OMIM:122580 UMLS:C1852523 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2391 Congenitally short costocoracoid ligament ORPHA:2391 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536448 E (Exact mapping: the two concepts are equivalent) OMIM:122580 E (Exact mapping: the two concepts are equivalent) UMLS:C1852523 E (Exact mapping: the two concepts are equivalent) DLD deficiency Dihydrolipoamide dehydrogenase deficiency E3-deficient maple syrup urine disease Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. Orphanet ICD-10:E74.4 ICD-11:5C53.02 OMIM:246900 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2394 Pyruvate dehydrogenase E3 deficiency Clinical subtype ORPHA:2394 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:246900 E (Exact mapping: the two concepts are equivalent) Haberland syndrome A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated. Orphanet ICD-10:E88.2 ICD-11:EF02.1 MeSH:C535736 OMIM:613001 UMLS:C0406612 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 77.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2396 Encephalocraniocutaneous lipomatosis ORPHA:2396 ICD-10:E88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF02.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535736 E (Exact mapping: the two concepts are equivalent) OMIM:613001 E (Exact mapping: the two concepts are equivalent) UMLS:C0406612 E (Exact mapping: the two concepts are equivalent) Cephalothoracic lipodystrophy Familial benign cervical lipomatosis Launois-Bensaude lipomatosis Madelung disease A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). Orphanet ICD-10:E88.8 ICD-11:EF02.1 MeSH:D008069 OMIM:151800 UMLS:C0023804 Autosomal dominant Autosomal recessive Mitochondrial inheritance Not applicable Adolescent Adult Childhood Elderly Italy AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2398 Multiple symmetric lipomatosis ORPHA:2398 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EF02.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008069 E (Exact mapping: the two concepts are equivalent) OMIM:151800 E (Exact mapping: the two concepts are equivalent) UMLS:C0023804 E (Exact mapping: the two concepts are equivalent) 19q13.33 SPI-B ClinVar:SPIB Ensembl:ENSG00000269404 Genatlas:SPIB HGNC:11242 OMIM:606802 SwissProt:Q01892 SPIB Spi-B transcription factor 3q25.33 CLMF IL-12, subunit p35 IL-12A IL35 subunit NF cell stimulatory factor chain 1 NFSK cytotoxic lymphocyte maturation factor 1, p35 interleukin 12, p35 interleukin-12 alpha chain natural killer cell stimulatory factor 1, 35 kD subunit p35 ClinVar:IL12A Ensembl:ENSG00000168811 Genatlas:IL12A HGNC:5969 OMIM:161560 Reactome:P29459 SwissProt:P29459 IL12A interleukin 12A 7q32.1 IRF-5 ClinVar:IRF5 Ensembl:ENSG00000128604 Genatlas:IRF5 HGNC:6120 OMIM:607218 Reactome:Q13568 SwissProt:Q13568 IRF5 interferon regulatory factor 5 7q32.1 IPO12 MTR10A TRN-SR TRN-SR2 importin 12 ClinVar:TNPO3 Ensembl:ENSG00000064419 Genatlas:TNPO3 HGNC:17103 OMIM:610032 SwissProt:Q9Y5L0 TNPO3 transportin 3 1p36.32 NEPII NL1 NL2 SEP neprilysin 2 neprilysin-II ClinVar:MMEL1 Ensembl:ENSG00000142606 Genatlas:MMEL1 HGNC:14668 OMIM:618104 SwissProt:Q495T6 MMEL1 membrane metalloendopeptidase like 1 19p13.13 CCAAT-binding transcription factor NF1A ClinVar:NFIX Ensembl:ENSG00000008441 Genatlas:NFIX HGNC:7788 OMIM:164005 Reactome:Q14938 SwissProt:Q14938 NFIX nuclear factor I X 7q21.3 ESA arylesterase 1 esterase A ClinVar:PON1 Ensembl:ENSG00000005421 Genatlas:PON1 HGNC:9204 IUPHAR:3052 OMIM:168820 Reactome:P27169 SwissProt:P27169 PON1 paraoxonase 1 7q21.3 arylesterase 2 paraoxonase nirs ClinVar:PON2 Ensembl:ENSG00000105854 Genatlas:PON2 HGNC:9205 IUPHAR:3053 OMIM:602447 Reactome:Q15165 SwissProt:Q15165 PON2 paraoxonase 2 7q21.3 arylesterase 3 ClinVar:PON3 Ensembl:ENSG00000105852 Genatlas:PON3 HGNC:9206 IUPHAR:3054 OMIM:602720 Reactome:Q15166 SwissProt:Q15166 PON3 paraoxonase 3 10q24.31 FLJ23209 bA108L7.8 ClinVar:PDZD7 Ensembl:ENSG00000186862 Genatlas:PDZD7 HGNC:26257 OMIM:612971 SwissProt:Q9H5P4 PDZD7 PDZ domain containing 7 A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. Orphanet ICD-10:Q10.3 ICD-11:LD21.Y MeSH:C538338 OMIM:167730 UMLS:C1868660 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2399 Nasopalpebral lipoma-coloboma syndrome ORPHA:2399 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538338 E (Exact mapping: the two concepts are equivalent) OMIM:167730 E (Exact mapping: the two concepts are equivalent) UMLS:C1868660 E (Exact mapping: the two concepts are equivalent) 16p13.3 DFNA65 KIAA1171 TBC/LysM-associated domain containing 6 TLDC6 deafness, autosomal dominant 65 skywalker homolog (Drosophila) ClinVar:TBC1D24 Ensembl:ENSG00000162065 Genatlas:TBC1D24 HGNC:29203 OMIM:613577 Reactome:Q9ULP9 SwissProt:Q9ULP9 TBC1D24 TBC1 domain family member 24 19q13.12 DKFZP434J046 FLJ33298 ClinVar:WDR62 Ensembl:ENSG00000075702 Genatlas:WDR62 HGNC:24502 OMIM:613583 Reactome:O43379 SwissProt:O43379 WDR62 WD repeat domain 62 2p24.1 CFAP118 FAP118 IFT121 IFTA1 KIAA1336 MGC33196 ClinVar:WDR35 Ensembl:ENSG00000118965 Genatlas:WDR35 HGNC:29250 OMIM:613602 Reactome:Q9P2L0 SwissProt:Q9P2L0 WDR35 WD repeat domain 35 5q13.2 PPP1R115 phosphatase 1, regulatory subunit 115 tight junction protein occludin TM4 minus ClinVar:OCLN Ensembl:ENSG00000197822 Genatlas:OCLN HGNC:8104 OMIM:602876 Reactome:Q16625 SwissProt:Q16625 OCLN occludin 2p15 FLJ13305 ClinVar:FAM161A Ensembl:ENSG00000170264 Genatlas:FAM161A HGNC:25808 OMIM:613596 Reactome:Q3B820 SwissProt:Q3B820 FAM161A FAM161 centrosomal protein A 2p23.3 FLJ32203 RP58 Zfp513 ClinVar:ZNF513 Ensembl:ENSG00000163795 Genatlas:ZNF513 HGNC:26498 OMIM:613598 Reactome:Q8N8E2 SwissProt:Q8N8E2 ZNF513 zinc finger protein 513 20p11.21 ABHD12A BEM46L2 DKFZP434P106 dJ965G21.2 ClinVar:ABHD12 Ensembl:ENSG00000100997 Genatlas:ABHD12 HGNC:15868 IUPHAR:3070 OMIM:613599 Reactome:Q8N2K0 SwissProt:Q8N2K0 ABHD12 abhydrolase domain containing 12, lysophospholipase Fumarase deficiency Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. Orphanet ICD-10:E88.8 ICD-11:5C53.1 MeSH:C538191 MedDRA:10088204 OMIM:606812 UMLS:C2936826 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=24 Fumaric aciduria ORPHA:24 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538191 E (Exact mapping: the two concepts are equivalent) MedDRA:10088204 E (Exact mapping: the two concepts are equivalent) OMIM:606812 E (Exact mapping: the two concepts are equivalent) UMLS:C2936826 E (Exact mapping: the two concepts are equivalent) Léri-Weill syndrome A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. Orphanet ICD-10:Q77.8 ICD-11:LD24.A MeSH:C537119 OMIM:127300 UMLS:C0265309 Autosomal dominant Adolescent Antenatal Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240 Léri-Weill dyschondrosteosis ORPHA:240 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537119 E (Exact mapping: the two concepts are equivalent) OMIM:127300 E (Exact mapping: the two concepts are equivalent) UMLS:C0265309 E (Exact mapping: the two concepts are equivalent) Lisker-Garcia-Ramos syndrome Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. Orphanet ICD-10:G60.8 ICD-11:8C2Y MeSH:C536988 OMIM:252320 UMLS:C1854961 Unknown Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2400 Peripheral motor neuropathy-dysautonomia syndrome ORPHA:2400 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536988 E (Exact mapping: the two concepts are equivalent) OMIM:252320 E (Exact mapping: the two concepts are equivalent) UMLS:C1854961 E (Exact mapping: the two concepts are equivalent) Classic PSP syndrome Richardson syndrome Steele-Richardson-Olszewski disease A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop. Orphanet ICD-10:G23.1 ICD-11:8A00.10 OMIM:601104 OMIM:609454 OMIM:610898 Not applicable Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240071 Classic progressive supranuclear palsy syndrome Clinical subtype ORPHA:240071 ICD-10:G23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601104 E (Exact mapping: the two concepts are equivalent) OMIM:609454 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610898 BTNT (ORPHAcode is broader than the targeted code used to represent it) PSP-p PSP-parkinsonism An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP. Orphanet ICD-10:G23.1 ICD-11:8A00.10 OMIM:260540 UMLS:C5548370 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240085 Progressive supranuclear palsy-predominant parkinsonism syndrome Clinical subtype ORPHA:240085 ICD-10:G23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:260540 E (Exact mapping: the two concepts are equivalent) UMLS:C5548370 E (Exact mapping: the two concepts are equivalent) PSP-PAGF PSP-pure akinesia with gait freezing An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types. Orphanet ICD-10:G23.1 ICD-11:8A00.10 OMIM:260540 UMLS:C5679851 Not applicable Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome Clinical subtype ORPHA:240094 ICD-10:G23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:260540 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679851 E (Exact mapping: the two concepts are equivalent) PSP-CBS PSP-corticobasal syndrome An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices. Orphanet ICD-10:G23.1 ICD-11:8A00.10 OMIM:260540 UMLS:C5548189 Not applicable Adult Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240103 Progressive supranuclear palsy-corticobasal syndrome Clinical subtype ORPHA:240103 ICD-10:G23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:260540 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5548189 E (Exact mapping: the two concepts are equivalent) PSP-AOS PSP-PNFA Progressive supranuclear palsy-apraxia of speech syndrome An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus. Orphanet ICD-10:G23.1 ICD-11:8A00.10 OMIM:260540 UMLS:C5679850 Not applicable Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome Clinical subtype ORPHA:240112 ICD-10:G23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:260540 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679850 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-Langerhans cell histiocytosis OBSOLETE: Systemic non-Langerhans cell histiocytosis ORPHA:240266 UMLS:C5680938 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240371 Syndromic obesity Category ORPHA:240371 UMLS:C5680938 E (Exact mapping: the two concepts are equivalent) Loiasis is a form of filariasis (see this term), caused by the parasitic worm <i>Loa loa</i>, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms). Orphanet ICD-10:B74.3 ICD-11:1F66.0 MeSH:D008118 MedDRA:10024797 UMLS:C0023968 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Specific population AND has_point_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2404 Loiasis ORPHA:2404 ICD-10:B74.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F66.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008118 E (Exact mapping: the two concepts are equivalent) MedDRA:10024797 E (Exact mapping: the two concepts are equivalent) UMLS:C0023968 E (Exact mapping: the two concepts are equivalent) Escher-Hirt syndrome Thickened earlobes-conductive hearing loss syndrome Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Orphanet ICD-10:H90.0 ICD-11:LD2H.Y OMIM:128980 UMLS:C4302507 Autosomal dominant All ages Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2405 Thickened earlobes-conductive deafness syndrome ORPHA:2405 ICD-10:H90.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:128980 E (Exact mapping: the two concepts are equivalent) UMLS:C4302507 E (Exact mapping: the two concepts are equivalent) LIS Pseudocoma A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders. Orphanet ICD-10:G83.8 ICD-11:8E45 MeSH:D000080422 MedDRA:10024792 UMLS:C0023944 Not applicable All ages Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2406 Locked-in syndrome ORPHA:2406 ICD-10:G83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E45 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000080422 E (Exact mapping: the two concepts are equivalent) MedDRA:10024792 E (Exact mapping: the two concepts are equivalent) UMLS:C0023944 E (Exact mapping: the two concepts are equivalent) 1p13.3 LGN Pins ClinVar:GPSM2 Ensembl:ENSG00000121957 Genatlas:GPSM2 HGNC:29501 OMIM:609245 Reactome:P81274 SwissProt:P81274 GPSM2 G protein signaling modulator 2 12p11.21 CGI-04 FLJ13995 mt-TyrRS tyrosine tRNA ligase 2, mitochondrial ClinVar:YARS2 Ensembl:ENSG00000139131 Genatlas:YARS2 HGNC:24249 OMIM:610957 Reactome:Q9Y2Z4 SwissProt:Q9Y2Z4 YARS2 tyrosyl-tRNA synthetase 2 19p13.13 EKLF erythroid Kruppel-like factor ClinVar:KLF1 Ensembl:ENSG00000105610 Genatlas:KLF1 HGNC:6345 OMIM:600599 SwissProt:Q13351 KLF1 KLF transcription factor 1 15q21.1 KIAA0912 MCPH9 SCKL5 asterless ClinVar:CEP152 Ensembl:ENSG00000103995 Genatlas:CEP152 HGNC:29298 OMIM:613529 Reactome:O94986 SwissProt:O94986 CEP152 centrosomal protein 152 22q12.3 ClinVar:APOL1 Ensembl:ENSG00000100342 Genatlas:APOL1 HGNC:618 OMIM:603743 Reactome:O14791 SwissProt:O14791 APOL1 apolipoprotein L1 17q25.3 M33 MGC10561 Pc class homolog (Drosophila) ClinVar:CBX2 Ensembl:ENSG00000173894 Genatlas:CBX2 HGNC:1552 OMIM:602770 Reactome:Q14781 SwissProt:Q14781 CBX2 chromobox 2 6q24.1 MRG1 ClinVar:CITED2 Ensembl:ENSG00000164442 Genatlas:CITED2 HGNC:1987 OMIM:602937 Reactome:Q99967 SwissProt:Q99967 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 LOC syndrome LOGIC syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Shabbir syndrome LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Orphanet ICD-10:Q81.8 ICD-11:EC31 MeSH:C537032 MedDRA:10062987 OMIM:245660 UMLS:C1328355 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2407 Laryngo-onycho-cutaneous syndrome ORPHA:2407 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537032 E (Exact mapping: the two concepts are equivalent) MedDRA:10062987 E (Exact mapping: the two concepts are equivalent) OMIM:245660 E (Exact mapping: the two concepts are equivalent) UMLS:C1328355 E (Exact mapping: the two concepts are equivalent) Microcephaly and chromosomal instability without immunodeficiency NBS-like disorder NBSLD RAD50 deficiency Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. Orphanet ICD-10:Q87.8 ICD-11:4A01.31 MeSH:C567767 OMIM:613078 UMLS:C2751318 Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=240760 Nijmegen breakage syndrome-like disorder ORPHA:240760 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567767 E (Exact mapping: the two concepts are equivalent) OMIM:613078 E (Exact mapping: the two concepts are equivalent) UMLS:C2751318 E (Exact mapping: the two concepts are equivalent) Deafness-nephritis-ano-rectal malformation syndrome Hearing loss-nephritis-ano-rectal malformation syndrome Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y UMLS:C4707726 Antenatal Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2408 Lowe-Kohn-Cohen syndrome ORPHA:2408 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707726 E (Exact mapping: the two concepts are equivalent) Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537037 OMIM:600252 UMLS:C0796020 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2409 Lowry-MacLean syndrome ORPHA:2409 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537037 E (Exact mapping: the two concepts are equivalent) OMIM:600252 E (Exact mapping: the two concepts are equivalent) UMLS:C0796020 E (Exact mapping: the two concepts are equivalent) A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported. Orphanet ICD-10:L81.8 ICD-11:EC23.Y MeSH:C535730 OMIM:127500 OMIM:612715 OMIM:615402 UMLS:C2930995 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=241 Dyschromatosis universalis hereditaria ORPHA:241 ICD-10:L81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535730 E (Exact mapping: the two concepts are equivalent) OMIM:127500 E (Exact mapping: the two concepts are equivalent) OMIM:612715 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615402 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2930995 E (Exact mapping: the two concepts are equivalent) Lubinsky syndrome A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Orphanet ICD-10:E29.1 MeSH:C543092 OMIM:240950 UMLS:C1855859 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2410 Hypergonadotropic hypogonadism-cataract syndrome ORPHA:2410 ICD-10:E29.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C543092 E (Exact mapping: the two concepts are equivalent) OMIM:240950 E (Exact mapping: the two concepts are equivalent) UMLS:C1855859 E (Exact mapping: the two concepts are equivalent) Collins-Pope syndrome Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.2 OMIM:601450 UMLS:C4706570 Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2412 Dislocation of the hip-dysmorphism syndrome ORPHA:2412 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601450 E (Exact mapping: the two concepts are equivalent) UMLS:C4706570 E (Exact mapping: the two concepts are equivalent) Pulmonary lymphangiomatosis A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. Orphanet ICD-10:Q33.8 ICD-11:LA75.Y MeSH:C537727 OMIM:265300 UMLS:C1849554 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2414 Congenital pulmonary lymphangiectasia ORPHA:2414 ICD-10:Q33.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537727 E (Exact mapping: the two concepts are equivalent) OMIM:265300 E (Exact mapping: the two concepts are equivalent) UMLS:C1849554 E (Exact mapping: the two concepts are equivalent) LM Lymphangioma ICD-10:D18.1 ICD-11:LA90.1 UMLS:C5575909 Not applicable Infancy Neonatal Europe AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2415 Rare lymphatic malformation Category ORPHA:2415 ICD-10:D18.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5575909 E (Exact mapping: the two concepts are equivalent) UMLS:C5680523 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2416 Congenital primary lymphedema without systemic or visceral involvement Clinical group ORPHA:2416 UMLS:C5680523 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lymphedema-distichiasis syndrome Lymphedema-ptosis syndrome ORPHA:2419 18p11.32 HsT422 TMS Tsase ClinVar:TYMS Ensembl:ENSG00000176890 Genatlas:TYMS HGNC:12441 IUPHAR:2642 OMIM:188350 Reactome:P04818 SwissProt:P04818 TYMS thymidylate synthetase 22q11.21 ClinVar:COMT Ensembl:ENSG00000093010 Genatlas:COMT HGNC:2228 IUPHAR:2472 OMIM:116790 Reactome:P21964 SwissProt:P21964 COMT catechol-O-methyltransferase 12p12.1 LST-1 OATP-C OATP1B1 ClinVar:SLCO1B1 Ensembl:ENSG00000134538 Genatlas:SLCO1B1 HGNC:10959 IUPHAR:1220 OMIM:604843 Reactome:Q9Y6L6 SwissProt:Q9Y6L6 SLCO1B1 solute carrier organic anion transporter family member 1B1 46,XY CGD 46,XY pure gonadal dysgenesis Swyer syndrome A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype. Orphanet ICD-10:Q99.1 ICD-11:LD2A.1 MedDRA:10084327 OMIM:154230 OMIM:233420 OMIM:300018 OMIM:400044 OMIM:612965 OMIM:613080 OMIM:613762 OMIM:616425 UMLS:C2936694 Autosomal dominant Autosomal recessive X-linked recessive Y-linked Adolescent Adult Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=242 46,XY complete gonadal dysgenesis ORPHA:242 ICD-10:Q99.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2A.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10084327 E (Exact mapping: the two concepts are equivalent) OMIM:154230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:233420 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300018 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:400044 E (Exact mapping: the two concepts are equivalent) OMIM:612965 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613080 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613762 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616425 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2936694 E (Exact mapping: the two concepts are equivalent) A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG). Orphanet ICD-10:C85.7 ICD-11:2C25.Y MedDRA:10037418 UMLS:C4273669 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2420 Primary pulmonary lymphoma ORPHA:2420 ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10037418 E (Exact mapping: the two concepts are equivalent) UMLS:C4273669 E (Exact mapping: the two concepts are equivalent) 5q31.1 RAD50-2 hRad50 ClinVar:RAD50 Ensembl:ENSG00000113522 Genatlas:RAD50 HGNC:9816 OMIM:604040 Reactome:Q92878 SwissProt:Q92878 RAD50 RAD50 double strand break repair protein 10q24.2 DHDPS2 FLJ37472 N-acetylneuraminate pyruvate lyase 2 (putative) NPL2 dihydrodipicolinate synthetase homolog 2 (E. coli) ClinVar:HOGA1 Ensembl:ENSG00000241935 Genatlas:HOGA1 HGNC:25155 OMIM:613597 Reactome:Q86XE5 SwissProt:Q86XE5 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 1q41 DISPA DKFZP434I0428 MGC13130 MGC16796 ClinVar:DISP1 Ensembl:ENSG00000154309 Genatlas:DISP1 HGNC:19711 OMIM:607502 SwissProt:Q96F81 DISP1 dispatched RND transporter family member 1 Volcke-Soekarman syndrome A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.1 MeSH:C537718 UMLS:C2931595 Unknown Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2427 Macrocephaly-short stature-paraplegia syndrome ORPHA:2427 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537718 E (Exact mapping: the two concepts are equivalent) UMLS:C2931595 E (Exact mapping: the two concepts are equivalent) Fryns macrocephaly Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Orphanet ICD-10:Q87.8 MeSH:C563963 OMIM:600302 UMLS:C1838281 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563963 E (Exact mapping: the two concepts are equivalent) OMIM:600302 E (Exact mapping: the two concepts are equivalent) UMLS:C1838281 E (Exact mapping: the two concepts are equivalent) 11q23.3 RNF55 c-Cbl oncogene CBL2 ClinVar:CBL Ensembl:ENSG00000110395 Genatlas:CBL HGNC:1541 OMIM:165360 Reactome:P22681 SwissProt:P22681 CBL Cbl proto-oncogene 4q12 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)) FLJ13352 SRD5A2L SRD5A2L1 polyprenol reductase ClinVar:SRD5A3 Ensembl:ENSG00000128039 Genatlas:SRD5A3 HGNC:25812 OMIM:611715 Reactome:Q9H8P0 SwissProt:Q9H8P0 SRD5A3 steroid 5 alpha-reductase 3 9q21.11 Friedreich ataxia region gene X104 (tight junction protein ZO-2) X104 ZO-2 ZO2 zona occludens 2 ClinVar:TJP2 Ensembl:ENSG00000119139 Genatlas:TJP2 HGNC:11828 OMIM:607709 Reactome:Q9UDY2 SwissProt:Q9UDY2 TJP2 tight junction protein 2 12q24.31 COXPD7 FLJ38663 SPG55 mtRF-R ClinVar:C12orf65 Ensembl:ENSG00000130921 Genatlas:C12orf65 HGNC:26784 OMIM:613541 SwissProt:Q9H3J6 MTRFR mitochondrial translation release factor in rescue 46,XX complete gonadal dysgenesis 46,XX ovarian dysgenesis 46,XX pure gonadal dysgenesis Hypergonadotropic ovarian dysgenesis XX female gonadal dysgenesis XX-GD A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals. Orphanet ICD-10:Q99.1 ICD-11:LB45.1 MeSH:D023961 OMIM:233300 OMIM:300510 OMIM:614324 OMIM:618078 OMIM:618117 OMIM:618723 UMLS:C0949595 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Adolescent Adult Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=243 46,XX gonadal dysgenesis ORPHA:243 ICD-10:Q99.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB45.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D023961 E (Exact mapping: the two concepts are equivalent) OMIM:233300 E (Exact mapping: the two concepts are equivalent) OMIM:300510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614324 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618078 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618117 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618723 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0949595 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes. Orphanet ICD-10:Q38.2 ICD-11:LA31.0 MeSH:C531735 OMIM:153630 UMLS:C0009677 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2430 Congenital macroglossia ORPHA:2430 ICD-10:Q38.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA31.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C531735 E (Exact mapping: the two concepts are equivalent) OMIM:153630 E (Exact mapping: the two concepts are equivalent) UMLS:C0009677 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bilateral perisylvian polymicrogyria Central bilateral macrogyria ORPHA:2431 Teebi-Al Saleh-Hassoon syndrome Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:Q87.0 MeSH:C537830 OMIM:248110 UMLS:C4721892 Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2432 Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537830 E (Exact mapping: the two concepts are equivalent) OMIM:248110 E (Exact mapping: the two concepts are equivalent) UMLS:C4721892 E (Exact mapping: the two concepts are equivalent) DMG dehydrogenase deficiency DMGDH deficiency Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. Orphanet ICD-10:E72.5 MeSH:C565278 OMIM:605850 UMLS:C1853892 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=243343 Dimethylglycine dehydrogenase deficiency ORPHA:243343 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565278 E (Exact mapping: the two concepts are equivalent) OMIM:605850 E (Exact mapping: the two concepts are equivalent) UMLS:C1853892 E (Exact mapping: the two concepts are equivalent) AFLP A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. Orphanet ICD-10:O26.6 ICD-11:JA65.0 MeSH:C537957 MedDRA:10000746 UMLS:C1455728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=243367 Acute fatty liver of pregnancy ORPHA:243367 ICD-10:O26.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:JA65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537957 E (Exact mapping: the two concepts are equivalent) MedDRA:10000746 E (Exact mapping: the two concepts are equivalent) UMLS:C1455728 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Insulin-dependent diabetes mellitus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E10 NON RARE IN EUROPE: Diabetes mellitus type 1 ORPHA:243377 ICD-10:E10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Westerhof-Beemer-Cormane syndrome Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:L81.8 MeSH:C537836 UMLS:C1835172 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome ORPHA:2435 ICD-10:L81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537836 E (Exact mapping: the two concepts are equivalent) UMLS:C1835172 E (Exact mapping: the two concepts are equivalent) Split hand with obstructive uropathy, spina bifida and diaphragmatic defects Split hand-urinary anomalies-spina bifida syndrome Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.8 MeSH:C566662 OMIM:183802 UMLS:C1866739 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2437 Czeizel-Losonci syndrome ORPHA:2437 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566662 E (Exact mapping: the two concepts are equivalent) OMIM:183802 E (Exact mapping: the two concepts are equivalent) UMLS:C1866739 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:I10 NON RARE IN EUROPE: Essential hypertension ORPHA:243761 ICD-10:I10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). HFGS Hand-foot-uterus syndrome Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. Orphanet ICD-10:Q51.2 ICD-11:LD2F.1Y MeSH:C535627 MedDRA:10072361 OMIM:140000 UMLS:C1841679 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2438 Hand-foot-genital syndrome ORPHA:2438 ICD-10:Q51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535627 E (Exact mapping: the two concepts are equivalent) MedDRA:10072361 E (Exact mapping: the two concepts are equivalent) OMIM:140000 E (Exact mapping: the two concepts are equivalent) UMLS:C1841679 E (Exact mapping: the two concepts are equivalent) Patterson-Stevenson syndrome Split foot deformity-mandibulofacial dysostosis syndrome Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Orphanet ICD-10:Q87.0 OMIM:183700 UMLS:C5574964 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2439 Patterson-Stevenson-Fontaine syndrome ORPHA:2439 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:183700 E (Exact mapping: the two concepts are equivalent) UMLS:C5574964 E (Exact mapping: the two concepts are equivalent) PCD A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). Orphanet ICD-10:Q34.8 ICD-11:LA75.Y MedDRA:10069713 OMIM:215518 OMIM:215520 OMIM:242670 OMIM:242680 OMIM:244400 OMIM:300991 OMIM:606763 OMIM:608644 OMIM:608646 OMIM:608647 OMIM:610852 OMIM:611884 OMIM:612274 OMIM:612444 OMIM:612518 OMIM:612649 OMIM:612650 OMIM:613193 OMIM:613807 OMIM:613808 OMIM:614017 OMIM:614679 OMIM:614874 OMIM:614935 OMIM:615067 OMIM:615294 OMIM:615444 OMIM:615451 OMIM:615481 OMIM:615482 OMIM:615500 OMIM:615504 OMIM:615505 OMIM:615872 OMIM:616037 OMIM:616481 OMIM:616726 OMIM:617091 OMIM:617092 OMIM:617577 OMIM:618063 OMIM:618254 OMIM:618449 OMIM:618695 OMIM:618781 OMIM:618801 OMIM:619436 OMIM:620032 OMIM:620197 UMLS:C4551720 Autosomal dominant Autosomal recessive X-linked recessive Neonatal Europe AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Pakistan AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=244 Primary ciliary dyskinesia ORPHA:244 ICD-10:Q34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069713 E (Exact mapping: the two concepts are equivalent) OMIM:215518 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:215520 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:242670 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:242680 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:244400 E (Exact mapping: the two concepts are equivalent) OMIM:300991 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606763 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608644 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608646 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608647 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610852 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611884 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612274 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612444 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612518 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612649 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613193 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613807 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613808 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614017 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614679 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614874 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614935 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615067 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615294 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615444 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615451 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615481 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615482 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615504 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615505 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615872 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616037 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616481 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616726 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617092 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617577 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618063 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618254 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618449 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618695 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618781 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618801 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619436 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620032 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620197 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551720 E (Exact mapping: the two concepts are equivalent) Ectrodactyly SHFM Split hand foot malformation A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes. Orphanet ICD-10:Q74.8 MedDRA:10079827 OMIM:183600 OMIM:225300 OMIM:246560 OMIM:313350 OMIM:605289 OMIM:606708 UMLS:C0265554 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Canada AND has_birth_prevalence_average_value : 5.1 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_birth_prevalence_average_value : 16.4 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 5.4 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2440 Isolated split hand-split foot malformation ORPHA:2440 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10079827 E (Exact mapping: the two concepts are equivalent) OMIM:183600 E (Exact mapping: the two concepts are equivalent) OMIM:225300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:246560 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:313350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605289 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606708 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265554 E (Exact mapping: the two concepts are equivalent) Duncan disease Purtilo syndrome XLP ICD-11:4A01.22 MeSH:D008232 MedDRA:10068348 OMIM:300635 OMIM:308240 UMLS:C0549463 X-linked recessive Adolescent Adult Childhood Infancy China AND has_point_prevalence_average_value : 0.0347 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2442 X-linked lymphoproliferative disease Clinical group ORPHA:2442 ICD-11:4A01.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008232 E (Exact mapping: the two concepts are equivalent) MedDRA:10068348 E (Exact mapping: the two concepts are equivalent) OMIM:300635 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308240 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0549463 E (Exact mapping: the two concepts are equivalent) 2q23.1 FLJ11113 KIAA1461 ClinVar:MBD5 Ensembl:ENSG00000204406 Genatlas:MBD5 HGNC:20444 OMIM:611472 Reactome:Q9P267 SwissProt:Q9P267 MBD5 methyl-CpG binding domain protein 5 Hemolysis, elevated liver enzymes, low platelets in pregnancy Hemolysis-elevated liver enzymes-low platelets syndrome A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death. Orphanet ICD-10:O14.2 ICD-11:JA24.2 MeSH:D017359 MedDRA:10049058 UMLS:C0162739 Multigenic/multifactorial Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=244242 HELLP syndrome ORPHA:244242 ICD-10:O14.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JA24.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017359 E (Exact mapping: the two concepts are equivalent) MedDRA:10049058 E (Exact mapping: the two concepts are equivalent) UMLS:C0162739 E (Exact mapping: the two concepts are equivalent) A rare renal disease characterized by thrombotic microangiopathy developing <i>de novo</i> in kidney transplant recipients with no evidence of occurrence of the disease prior to transplantation. Precipitating factors include antibody-mediated rejection, immunosuppressive medication, viral infections, and genetic abnormalities in the complement cascade, among others. The condition most commonly occurs within the first 3-6 months post-transplantation. Clinical presentation is highly variable and ranges from a limited form confined to the kidney with relatively good prognosis to a systemic variant consisting of the classic triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury. Orphanet ICD-10:M31.1 UMLS:C5680696 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=244275 De novo thrombotic microangiopathy after kidney transplantation ORPHA:244275 ICD-10:M31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680696 E (Exact mapping: the two concepts are equivalent) 5q14.1 ME2GLYDH ClinVar:DMGDH Ensembl:ENSG00000132837 Genatlas:DMGDH HGNC:24475 OMIM:605849 Reactome:Q9UI17 SwissProt:Q9UI17 DMGDH dimethylglycine dehydrogenase BASM syndrome Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. Orphanet ICD-10:Q44.2 UMLS:C4274029 Multigenic/multifactorial Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=244283 Biliary atresia with splenic malformation syndrome ORPHA:244283 ICD-10:Q44.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274029 E (Exact mapping: the two concepts are equivalent) Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. Orphanet UMLS:C5679573 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Category ORPHA:2443 UMLS:C5679573 E (Exact mapping: the two concepts are equivalent) A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. Orphanet ICD-10:N25.8 OMIM:612286 OMIM:612287 UMLS:C5191009 Autosomal dominant Adult Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612286 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612287 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5191009 E (Exact mapping: the two concepts are equivalent) CDG syndrome type In CDG-In CDG1N Carbohydrate deficient glycoprotein syndrome type In Congenital disorder of glycosylation type 1n Congenital disorder of glycosylation type In Man5GlcNAc2-PP-Dol flippase deficiency RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene <i>RFT1</i> (3p21.1). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C567437 OMIM:612015 UMLS:C2677590 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=244310 RFT1-CDG ORPHA:244310 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567437 E (Exact mapping: the two concepts are equivalent) OMIM:612015 E (Exact mapping: the two concepts are equivalent) UMLS:C2677590 E (Exact mapping: the two concepts are equivalent) 17q25.1 EBP50 NHE-RF NHERF NHERF-1 Na(+)/H(+) exchange regulatory cofactor 1 ezrin-radixin-moesin-binding phosphoprotein 50 ClinVar:SLC9A3R1 Ensembl:ENSG00000109062 Genatlas:SLC9A3R1 HGNC:11075 OMIM:604990 Reactome:O14745 SwissProt:O14745 NHERF1 NHERF family PDZ scaffold protein 1 1q43-q44 BBS16 Bardet-Biedl syndrome 16 CCCAP NPHP10 NY-CO-8 SLSN7 Senior-Loken syndrome 7 centrosomal colon cancer autoantigen protein nephrocystin 10 ClinVar:SDCCAG8 Ensembl:ENSG00000054282 Genatlas:SDCCAG8 HGNC:10671 OMIM:613524 Reactome:Q86SQ7 SwissProt:Q86SQ7 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 15q25.3 CAMOS KIAA0211 ClinVar:ZNF592 Ensembl:ENSG00000166716 Genatlas:ZNF592 HGNC:28986 OMIM:613624 Reactome:Q92610 SwissProt:Q92610 ZNF592 zinc finger protein 592 14q12 FLJ12660 IND1 huInd1 iron-sulfur protein required for NADH dehydrogenase ClinVar:NUBPL Ensembl:ENSG00000151413 Genatlas:NUBPL HGNC:20278 OMIM:613621 Reactome:Q8TB37 SwissProt:Q8TB37 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial 11q24.2 H17 ClinVar:FOXRED1 Ensembl:ENSG00000110074 Genatlas:FOXRED1 HGNC:26927 OMIM:613622 SwissProt:Q96CU9 FOXRED1 FAD dependent oxidoreductase domain containing 1 15q22.31 CSNB1D HsT17412 KIAA0702 NCKX NCKX1 Na/Ca-K exchanger 1 RODX retinal rod Na+/Ca+/K+ exchanger ClinVar:SLC24A1 Ensembl:ENSG00000074621 Genatlas:SLC24A1 HGNC:10975 IUPHAR:1045 OMIM:603617 Reactome:O60721 SwissProt:O60721 SLC24A1 solute carrier family 24 member 1 10q23.1 CORD15 KIAA1775 RP65 ClinVar:CDHR1 Ensembl:ENSG00000148600 Genatlas:CDHR1 HGNC:14550 OMIM:609502 SwissProt:Q96JP9 CDHR1 cadherin related family member 1 22q11.21 HUMZD58C02 SREC-II SREC2 ClinVar:SCARF2 Ensembl:ENSG00000244486 Genatlas:SCARF2 HGNC:19869 OMIM:613619 SwissProt:Q96GP6 SCARF2 scavenger receptor class F member 2 7p14.3 CRIM3 Cv2 crossveinless-2 ClinVar:BMPER Ensembl:ENSG00000164619 Genatlas:BMPER HGNC:24154 OMIM:608699 SwissProt:Q8N8U9 BMPER BMP binding endothelial regulator CCAM CPAM Congenital cystic adenomatoid malformation of the lung Congenital cystic adenomatous malformation of the lung Congenital cystic disease of the lung A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated. Orphanet ICD-10:Q33.0 ICD-11:LA75.4 MeSH:D015615 MedDRA:10087693 UMLS:C0010668 Not applicable Adolescent Adult Antenatal Neonatal Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 17.7 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 7.2 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 17.1 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 4.9 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.3 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 18.1 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2444 Congenital pulmonary airway malformation ORPHA:2444 ICD-10:Q33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015615 E (Exact mapping: the two concepts are equivalent) MedDRA:10087693 E (Exact mapping: the two concepts are equivalent) UMLS:C0010668 E (Exact mapping: the two concepts are equivalent) 14q24.3 KIAA0526 LCB2 LCB2A hLCB2a ClinVar:SPTLC2 Ensembl:ENSG00000100596 Genatlas:SPTLC2 HGNC:11278 IUPHAR:2510 OMIM:605713 Reactome:O15270 SwissProt:O15270 SPTLC2 serine palmitoyltransferase long chain base subunit 2 10q26.12 DR11 FLJ10506 HH14 KIAA1351 SRI1 WDR15 sensitization to ricin complex subunit 1 ClinVar:WDR11 Ensembl:ENSG00000120008 Genatlas:WDR11 HGNC:13831 OMIM:606417 SwissProt:Q9BZH6 WDR11 WD repeat domain 11 A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). Orphanet MeSH:C535464 OMIM:217095 UMLS:C1857586 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2445 Conotruncal heart malformations Category ORPHA:2445 MeSH:C535464 E (Exact mapping: the two concepts are equivalent) OMIM:217095 E (Exact mapping: the two concepts are equivalent) UMLS:C1857586 E (Exact mapping: the two concepts are equivalent) 3p21.1 CDG1N congenital disorder of glycosylation 1N ClinVar:RFT1 Ensembl:ENSG00000163933 Genatlas:RFT1 HGNC:30220 OMIM:611908 Reactome:Q96AA3 SwissProt:Q96AA3 RFT1 RFT1 homolog Xq26.1 AIF CMTX4 DFNX5 ClinVar:AIFM1 Ensembl:ENSG00000156709 Genatlas:AIFM1 HGNC:8768 OMIM:300169 Reactome:O95831 SwissProt:O95831 AIFM1 apoptosis inducing factor mitochondria associated 1 5p15.33 DAT Sodium-dependent dopamine transporter dopamine transporter ClinVar:SLC6A3 Ensembl:ENSG00000142319 Genatlas:SLC6A3 HGNC:11049 IUPHAR:927 OMIM:126455 Reactome:Q01959 SwissProt:Q01959 SLC6A3 solute carrier family 6 member 3 UMLS:C5680882 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2447 Congenital mitral malformation Category ORPHA:2447 UMLS:C5680882 E (Exact mapping: the two concepts are equivalent) 9q31.1 BACAT BAT choloyl-CoA hydrolase glycine N-choloyltransferase ClinVar:BAAT Ensembl:ENSG00000136881 Genatlas:BAAT HGNC:932 OMIM:602938 Reactome:Q14032 SwissProt:Q14032 BAAT bile acid-CoA:amino acid N-acyltransferase 5q33.3 EMT LYK PSCTK2 ClinVar:ITK Ensembl:ENSG00000113263 Genatlas:ITK HGNC:6171 IUPHAR:2046 OMIM:186973 Reactome:Q08881 SwissProt:Q08881 ITK IL2 inducible T cell kinase 2p21 CLNMT CaM KMT ClinVar:C2orf34 Ensembl:ENSG00000143919 Genatlas:C2orf34 HGNC:26276 OMIM:609559 Reactome:Q7Z624 SwissProt:Q7Z624 CAMKMT calmodulin-lysine N-methyltransferase 2p21 PP2CB PP2CBETA PPC2BETAX protein phosphatase 2C, beta isoform ClinVar:PPM1B Ensembl:ENSG00000138032 Genatlas:PPM1B HGNC:9276 OMIM:603770 Reactome:O75688 SwissProt:O75688 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B 11q23.3 CD210 CD210a CDW210A HIL-10R ClinVar:IL10RA Ensembl:ENSG00000110324 Genatlas:IL10RA HGNC:5964 IUPHAR:1727 OMIM:146933 Reactome:Q13651 SwissProt:Q13651 IL10RA interleukin 10 receptor subunit alpha 21q22.11 CDW210B CRF2-4 IL-10R2 ClinVar:IL10RB Ensembl:ENSG00000243646 Genatlas:IL10RB HGNC:5965 IUPHAR:1728 OMIM:123889 Reactome:Q08334 SwissProt:Q08334 IL10RB interleukin 10 receptor subunit beta 18q21.2 IGDCC1 NTN1R1 immunoglobulin superfamily, DCC subclass, member 1 ClinVar:DCC Ensembl:ENSG00000187323 Genatlas:DCC HGNC:2701 OMIM:120470 Reactome:P43146 SwissProt:P43146 DCC DCC netrin 1 receptor Mandibulofacial dysostosis with preaxial limb anomalies NAFD Nager acrofacial dysostosis Preaxial acrodysostosis A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MeSH:C538184 MedDRA:10084410 OMIM:154400 UMLS:C0265245 Autosomal dominant Autosomal recessive Not applicable Antenatal Neonatal Finland AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=245 Nager syndrome ORPHA:245 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538184 E (Exact mapping: the two concepts are equivalent) MedDRA:10084410 E (Exact mapping: the two concepts are equivalent) OMIM:154400 E (Exact mapping: the two concepts are equivalent) UMLS:C0265245 E (Exact mapping: the two concepts are equivalent) Cutaneous and mucosal venous malformation VMCM Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. Orphanet ICD-10:Q27.8 ICD-11:LC51 MeSH:C563977 OMIM:600195 UMLS:C1838437 Autosomal dominant All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2451 Mucocutaneous venous malformations ORPHA:2451 ICD-10:Q27.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563977 E (Exact mapping: the two concepts are equivalent) OMIM:600195 E (Exact mapping: the two concepts are equivalent) UMLS:C1838437 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare congenital non-syndromic heart malformation OBSOLETE: Vascular malposition ORPHA:2452 3MC3 syndrome Malpuech facial clefting syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3MC syndrome OMIM:248340 UMLS:C0796032 Malpuech syndrome ORPHA:2453 OMIM:248340 E (Exact mapping: the two concepts are equivalent) UMLS:C0796032 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Stalker-Chitayat syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial intestinal malrotation OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome ORPHA:2454 Isolated polythelia Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. Orphanet ICD-10:Q83.3 ICD-11:LB63 OMIM:163700 UMLS:C4707878 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2456 Familial supernumerary nipples ORPHA:2456 ICD-10:Q83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB63 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:163700 E (Exact mapping: the two concepts are equivalent) UMLS:C4707878 E (Exact mapping: the two concepts are equivalent) MAD Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. Orphanet ICD-10:Q87.5 ICD-11:LD27.6Z OMIM:248370 OMIM:608612 UMLS:C0432291 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2457 Mandibuloacral dysplasia ORPHA:2457 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.6Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608612 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432291 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome ORPHA:2458 Mansonellosis A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms <i>Mansonella perstans</i> and <i>Mansonella ozzardi</i>. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances. Orphanet ICD-10:B74.4 ICD-11:1F66.1 MeSH:D008368 UMLS:C0024759 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2459 Mansonelliasis ORPHA:2459 ICD-10:B74.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F66.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008368 E (Exact mapping: the two concepts are equivalent) UMLS:C0024759 E (Exact mapping: the two concepts are equivalent) Acrofacial dysostosis, Genee-Wiedemann type Mandibulofacial dysostosis with postaxial limb anomalies Miller syndrome POADS Postaxial acrodysostosis A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MeSH:C537680 OMIM:263750 UMLS:C0265257 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=246 Postaxial acrofacial dysostosis ORPHA:246 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537680 E (Exact mapping: the two concepts are equivalent) OMIM:263750 E (Exact mapping: the two concepts are equivalent) UMLS:C0265257 E (Exact mapping: the two concepts are equivalent) Marden-Walker-like syndrome VDEGS Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Orphanet ICD-10:Q87.0 ICD-11:LD26.41 MeSH:C535909 OMIM:600920 UMLS:C1833136 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2460 Van den Ende-Gupta syndrome ORPHA:2460 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535909 E (Exact mapping: the two concepts are equivalent) OMIM:600920 E (Exact mapping: the two concepts are equivalent) UMLS:C1833136 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. Orphanet ICD-10:Q87.0 ICD-11:LD26.41 MeSH:C535910 OMIM:248700 UMLS:C0796033 Autosomal recessive Infancy Neonatal Belgium AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2461 Marden-Walker syndrome ORPHA:2461 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535910 E (Exact mapping: the two concepts are equivalent) OMIM:248700 E (Exact mapping: the two concepts are equivalent) UMLS:C0796033 E (Exact mapping: the two concepts are equivalent) Marfanoid craniosynostosis syndrome SGS A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD28.0Y MeSH:C537328 MedDRA:10082234 OMIM:182212 UMLS:C1321551 Autosomal dominant Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2462 Shprintzen-Goldberg syndrome ORPHA:2462 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537328 E (Exact mapping: the two concepts are equivalent) MedDRA:10082234 E (Exact mapping: the two concepts are equivalent) OMIM:182212 E (Exact mapping: the two concepts are equivalent) UMLS:C1321551 E (Exact mapping: the two concepts are equivalent) Fragoso-Cantú syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:248770 UMLS:C4518565 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome ORPHA:2463 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248770 E (Exact mapping: the two concepts are equivalent) UMLS:C4518565 E (Exact mapping: the two concepts are equivalent) A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q87.4 OMIM:223330 UMLS:C4517371 Adult Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2464 Marfanoid syndrome, De Silva type ORPHA:2464 ICD-10:Q87.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:223330 E (Exact mapping: the two concepts are equivalent) UMLS:C4517371 E (Exact mapping: the two concepts are equivalent) 3q26.33 CFAP59 CILD14 DKFZp434A128 FAP59 ClinVar:CCDC39 Ensembl:ENSG00000284862 Genatlas:CCDC39 HGNC:25244 OMIM:613798 SwissProt:Q9UFE4 CCDC39 coiled-coil domain 39 molecular ruler complex subunit 17q25.3 CFAP172 CILD15 FAP172 FLJ20753 FLJ32021 KIAA1640 ClinVar:CCDC40 Ensembl:ENSG00000141519 Genatlas:CCDC40 HGNC:26090 OMIM:613799 Reactome:Q4G0X9 SwissProt:Q4G0X9 CCDC40 coiled-coil domain 40 molecular ruler complex subunit Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. Orphanet ICD-10:G11.4 ICD-11:8B44.02 MeSH:C536029 OMIM:303350 UMLS:C0795953 X-linked recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2466 MASA syndrome Clinical subtype ORPHA:2466 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536029 E (Exact mapping: the two concepts are equivalent) OMIM:303350 E (Exact mapping: the two concepts are equivalent) UMLS:C0795953 E (Exact mapping: the two concepts are equivalent) 1q32.3 FLVCR MFSD7B PCA SLC49A1 ClinVar:FLVCR1 Ensembl:ENSG00000162769 Genatlas:FLVCR1 HGNC:24682 IUPHAR:1910 OMIM:609144 Reactome:Q9Y5Y0 SwissProt:Q9Y5Y0 FLVCR1 FLVCR choline and heme transporter 1 3q21.1 KRP MLCK MLCK1 MLCK108 MLCK210 MYLK-L MYLK1 Telokin kinase related protein smMLCK smooth muscle myosin light chain kinase ClinVar:MYLK Ensembl:ENSG00000065534 Genatlas:MYLK HGNC:7590 IUPHAR:1552 OMIM:600922 Reactome:Q15746 SwissProt:Q15746 MYLK myosin light chain kinase 15q25.3 TRKC ClinVar:NTRK3 Ensembl:ENSG00000140538 Genatlas:NTRK3 HGNC:8033 IUPHAR:1819 OMIM:191316 Reactome:Q16288 SwissProt:Q16288 NTRK3 neurotrophic receptor tyrosine kinase 3 2q33.3 ClinVar:CREB1 Ensembl:ENSG00000118260 Genatlas:CREB1 HGNC:2345 OMIM:123810 Reactome:P16220 SwissProt:P16220 CREB1 cAMP responsive element binding protein 1 A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement. Orphanet ICD-10:C96.2 ICD-11:2A21.0 MeSH:D034721 MedDRA:10042949 UMLS:C0221013 Not applicable All ages Denmark AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 9.6 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 11.3 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2467 Systemic mastocytosis Clinical group ORPHA:2467 ICD-10:C96.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D034721 E (Exact mapping: the two concepts are equivalent) MedDRA:10042949 E (Exact mapping: the two concepts are equivalent) UMLS:C0221013 E (Exact mapping: the two concepts are equivalent) Arrhythmogenic right ventricular cardiomyopathy A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. Orphanet ICD-11:BC43.6 MeSH:D019571 MedDRA:10058093 UMLS:C0349788 Autosomal dominant Autosomal recessive Adolescent Adult Italy AND has_point_prevalence_average_value : 43.5 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247 Inherited arrhythmogenic cardiomyopathy Clinical group ORPHA:247 ICD-11:BC43.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D019571 E (Exact mapping: the two concepts are equivalent) MedDRA:10058093 E (Exact mapping: the two concepts are equivalent) UMLS:C0349788 E (Exact mapping: the two concepts are equivalent) Anophthalmia-pulmonary hypoplasia syndrome PDAC syndrome Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome Spear syndrome A rare, genetic congenital malformation syndrome characterized by bilateral anopthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Orphanet ICD-10:Q11.2 ICD-11:LD21.0 MeSH:C537768 OMIM:601186 OMIM:615524 UMLS:C1832661 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 43.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2470 Matthew-Wood syndrome ORPHA:2470 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537768 E (Exact mapping: the two concepts are equivalent) OMIM:601186 E (Exact mapping: the two concepts are equivalent) OMIM:615524 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1832661 E (Exact mapping: the two concepts are equivalent) McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C538158 OMIM:248950 UMLS:C0796038 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2471 McDonough syndrome ORPHA:2471 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538158 E (Exact mapping: the two concepts are equivalent) OMIM:248950 E (Exact mapping: the two concepts are equivalent) UMLS:C0796038 E (Exact mapping: the two concepts are equivalent) 15q26.1 IDH-2 ClinVar:IDH2 Ensembl:ENSG00000182054 Genatlas:IDH2 HGNC:5383 IUPHAR:2885 OMIM:147650 Reactome:P48735 SwissProt:P48735 IDH2 isocitrate dehydrogenase (NADP(+)) 2 2q37.3 CD279 PD-1 PD1 hSLE1 ClinVar:PDCD1 Ensembl:ENSG00000188389 Genatlas:PDCD1 HGNC:8760 IUPHAR:2760 OMIM:600244 Reactome:Q15116 SwissProt:Q15116 PDCD1 programmed cell death 1 2p15 BBS15 CPLANE5 ciliogenesis and planar polarity effector complex subunit 5 fritz hFrtz ClinVar:WDPCP Ensembl:ENSG00000143951 Genatlas:WDPCP HGNC:28027 OMIM:613580 SwissProt:O95876 WDPCP WD repeat containing planar cell polarity effector Erythroedema polyneuritis Feer disease Infantile acrodynia Infantile mercury intoxication Pink disease Swift disease Swift-Feer disease Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia. Orphanet ICD-10:T56.1 UMLS:C4553710 Not applicable Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247165 Infantile mercury poisoning ORPHA:247165 ICD-10:T56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4553710 E (Exact mapping: the two concepts are equivalent) PCCA A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement. Orphanet ICD-10:G31.8 OMIM:615851 UMLS:C3151140 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247198 Progressive cerebello-cerebral atrophy ORPHA:247198 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615851 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3151140 E (Exact mapping: the two concepts are equivalent) BDC Bellini carcinoma Bellini duct carcinoma CDC Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated. Orphanet ICD-10:C64 UMLS:C1266044 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247203 Collecting duct carcinoma ORPHA:247203 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1266044 E (Exact mapping: the two concepts are equivalent) Idiopathic late-onset cerebellar ataxia SAOA A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. Orphanet ICD-10:G31.8 UMLS:C4518339 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 7.6 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 6.9 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247234 Sporadic adult-onset ataxia of unknown etiology ORPHA:247234 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518339 E (Exact mapping: the two concepts are equivalent) ICD-11:8A03.2 UMLS:C5680697 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247239 Non-hereditary degenerative ataxia Category ORPHA:247239 ICD-11:8A03.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680697 E (Exact mapping: the two concepts are equivalent) ICD-11:8A03.3 UMLS:C4302112 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247242 Acquired ataxia Category ORPHA:247242 ICD-11:8A03.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4302112 E (Exact mapping: the two concepts are equivalent) Hemosiderosis of the central nervous system Superficial hemosiderosis of the CNS Superficial hemosiderosis of the central nervous system Superficial siderosis of the CNS Superficial siderosis of the central nervous system Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. Orphanet ICD-10:I69.0 MedDRA:10070564 Not applicable All ages Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247245 Superficial siderosis ORPHA:247245 ICD-10:I69.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10070564 E (Exact mapping: the two concepts are equivalent) Inhalation anthrax disease Pulmonary anthrax Respiratory anthrax Respiratory anthrax disease Inhalational anthrax is a rare acute systemic infection caused by the inhalation of <i>Bacillus anthracis</i> spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. Orphanet ICD-10:A22.1 ICD-11:1B97 MeSH:C571912 MedDRA:10035667 UMLS:C0155866 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247257 Inhalational anthrax ORPHA:247257 ICD-10:A22.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1B97 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C571912 E (Exact mapping: the two concepts are equivalent) MedDRA:10035667 E (Exact mapping: the two concepts are equivalent) UMLS:C0155866 E (Exact mapping: the two concepts are equivalent) Mabry syndrome A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported. Orphanet ICD-10:Q87.8 MeSH:C565495 OMIM:239300 OMIM:614207 OMIM:614749 OMIM:615716 OMIM:616025 OMIM:616809 UMLS:C1855923 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247262 Hyperphosphatasia-intellectual disability syndrome ORPHA:247262 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565495 E (Exact mapping: the two concepts are equivalent) OMIM:239300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614207 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614749 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615716 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616025 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616809 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1855923 E (Exact mapping: the two concepts are equivalent) Hydrometrocolpos-postaxial polydactyly syndrome Kaufman-Mckusick syndrome A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome. Orphanet ICD-10:Q87.8 ICD-11:9B70 MeSH:C538159 MedDRA:10052312 OMIM:236700 UMLS:C0948368 Autosomal recessive Neonatal Specific population AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_cases/families_value : 90.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2473 McKusick-Kaufman syndrome ORPHA:2473 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538159 E (Exact mapping: the two concepts are equivalent) MedDRA:10052312 E (Exact mapping: the two concepts are equivalent) OMIM:236700 E (Exact mapping: the two concepts are equivalent) UMLS:C0948368 E (Exact mapping: the two concepts are equivalent) GPP Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis. Orphanet ICD-10:L40.1 ICD-11:EA90.40 OMIM:614204 OMIM:616106 UMLS:C0343055 Autosomal recessive Not applicable Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.18 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247353 Generalized pustular psoriasis ORPHA:247353 ICD-10:L40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EA90.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:614204 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:616106 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0343055 E (Exact mapping: the two concepts are equivalent) Autosomal recessive secondary erythrocytosis not associated with VHL gene Autosomal recessive secondary erythrocytosis, non-Chuvash type Autosomal recessive secondary polycythemia, non-Chuvash type A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported. Orphanet ICD-10:D75.1 UMLS:C5191076 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247378 Autosomal recessive secondary polycythemia not associated with VHL gene ORPHA:247378 ICD-10:D75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191076 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Intellectual disability-coloboma-slimness syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: McLain-Dekaban syndrome ORPHA:2474 White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. Orphanet ICD-10:Q87.8 MeSH:C536700 OMIM:277740 UMLS:C1848463 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2475 White forelock with malformations ORPHA:2475 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536700 E (Exact mapping: the two concepts are equivalent) OMIM:277740 E (Exact mapping: the two concepts are equivalent) UMLS:C1848463 E (Exact mapping: the two concepts are equivalent) Autosomal dominant secondary erythrocytosis A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance. Orphanet ICD-10:D75.1 OMIM:609820 OMIM:611783 UMLS:C5190864 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247511 Autosomal dominant secondary polycythemia ORPHA:247511 ICD-10:D75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609820 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611783 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190864 E (Exact mapping: the two concepts are equivalent) Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss. Orphanet ICD-10:Q34.8 ICD-11:LA75.Y OMIM:300455 UMLS:C4304829 X-linked recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome ORPHA:247522 ICD-10:Q34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300455 E (Exact mapping: the two concepts are equivalent) UMLS:C4304829 E (Exact mapping: the two concepts are equivalent) ASS deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency CTLN1 Citrullinemia type 1 Classic citrullinemia Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term). Orphanet ICD-10:E72.2 ICD-11:5C50.A3 MedDRA:10058298 OMIM:215700 UMLS:C4721769 Autosomal recessive All ages Austria AND has_birth_prevalence_average_value : 1.28 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.84 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.13 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247525 Citrullinemia type I ORPHA:247525 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.A3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10058298 E (Exact mapping: the two concepts are equivalent) OMIM:215700 E (Exact mapping: the two concepts are equivalent) UMLS:C4721769 E (Exact mapping: the two concepts are equivalent) Acute neonatal citrullinemia type 1 Early-onset citrullinemia type 1 Early-onset citrullinemia type I A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. Orphanet ICD-10:E72.2 ICD-11:5C50.A3 OMIM:215700 UMLS:C5679618 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247546 Acute neonatal citrullinemia type I Clinical subtype ORPHA:247546 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.A3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:215700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679618 E (Exact mapping: the two concepts are equivalent) Late-onset citrullinemia type 1 A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. Orphanet ICD-10:E72.2 OMIM:215700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247573 Late-onset citrullinemia type I Clinical subtype ORPHA:247573 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:215700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). Orphanet UMLS:C1997910 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247582 Citrin deficiency Category ORPHA:247582 UMLS:C1997910 E (Exact mapping: the two concepts are equivalent) Adult-onset citrin deficiency Adult-onset citrullinemia type 2 Adult-onset citrullinemia type II CTLN2 Citrullinemia type 2 A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. Orphanet ICD-10:E72.2 ICD-11:5C50.A3 MeSH:C538053 OMIM:603471 UMLS:C1863844 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247585 Citrullinemia type II ORPHA:247585 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.A3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538053 E (Exact mapping: the two concepts are equivalent) OMIM:603471 E (Exact mapping: the two concepts are equivalent) UMLS:C1863844 E (Exact mapping: the two concepts are equivalent) NICCD Neonatal intrahepatic cholestasis caused by citrin deficiency A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. Orphanet ICD-10:E72.2 ICD-11:5C50.A3 OMIM:605814 UMLS:C1853942 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247598 Neonatal intrahepatic cholestasis due to citrin deficiency ORPHA:247598 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.A3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605814 E (Exact mapping: the two concepts are equivalent) UMLS:C1853942 E (Exact mapping: the two concepts are equivalent) Medeira-Dennis-Donnai syndrome A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q00.0 UMLS:C5679624 Antenatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome ORPHA:2476 ICD-10:Q00.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679624 E (Exact mapping: the two concepts are equivalent) JPLS Juvenile PLS A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. Orphanet ICD-10:G12.2 MeSH:C536416 OMIM:606353 UMLS:C1853396 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 4.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247604 Juvenile primary lateral sclerosis ORPHA:247604 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536416 E (Exact mapping: the two concepts are equivalent) OMIM:606353 E (Exact mapping: the two concepts are equivalent) UMLS:C1853396 E (Exact mapping: the two concepts are equivalent) Perinatal lethal Rathbun disease Perinatal lethal phosphoethanolaminuria A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. Orphanet ICD-10:E83.3 ICD-11:5C64.3 MeSH:C567107 OMIM:241500 UMLS:C2673477 Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247623 Perinatal lethal hypophosphatasia Clinical subtype ORPHA:247623 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567107 E (Exact mapping: the two concepts are equivalent) OMIM:241500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2673477 E (Exact mapping: the two concepts are equivalent) Prenatal benign Rathbun disease Prenatal benign phosphoethanolaminuria A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease. Orphanet ICD-10:E83.3 ICD-11:5C64.3 UMLS:C5679616 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247638 Prenatal benign hypophosphatasia Clinical subtype ORPHA:247638 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679616 E (Exact mapping: the two concepts are equivalent) Infantile Rathbun disease Infantile phosphoethanolaminuria A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Orphanet ICD-10:E83.3 ICD-11:5C64.3 MeSH:C562646 OMIM:241500 UMLS:C0268412 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247651 Infantile hypophosphatasia Clinical subtype ORPHA:247651 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562646 E (Exact mapping: the two concepts are equivalent) OMIM:241500 E (Exact mapping: the two concepts are equivalent) UMLS:C0268412 E (Exact mapping: the two concepts are equivalent) Childhood-onset Rathbun disease Childhood-onset phosphoethanolaminuria A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait. Orphanet ICD-10:E83.3 ICD-11:5C64.3 MeSH:C562440 OMIM:241510 UMLS:C0220743 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247667 Childhood-onset hypophosphatasia Clinical subtype ORPHA:247667 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562440 E (Exact mapping: the two concepts are equivalent) OMIM:241510 E (Exact mapping: the two concepts are equivalent) UMLS:C0220743 E (Exact mapping: the two concepts are equivalent) Adult Rathbun disease Adult phosphoethanolaminuria A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies. Orphanet ICD-10:E83.3 ICD-11:5C64.3 MeSH:C562647 OMIM:146300 UMLS:C0268413 Autosomal dominant Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247676 Adult hypophosphatasia Clinical subtype ORPHA:247676 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562647 E (Exact mapping: the two concepts are equivalent) OMIM:146300 E (Exact mapping: the two concepts are equivalent) UMLS:C0268413 E (Exact mapping: the two concepts are equivalent) A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. Orphanet ICD-10:E83.3 MeSH:C564146 OMIM:146300 UMLS:C1840322 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247685 Odontohypophosphatasia Clinical subtype ORPHA:247685 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564146 E (Exact mapping: the two concepts are equivalent) OMIM:146300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1840322 E (Exact mapping: the two concepts are equivalent) RVCL RVCL-S Retinal vasculopathy and cerebral leukoencephalopathy A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients. Orphanet ICD-10:I77.8 ICD-11:9B78.0 MeSH:C566007 OMIM:192315 UMLS:C1860518 Autosomal dominant Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ORPHA:247691 ICD-10:I77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B78.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C566007 E (Exact mapping: the two concepts are equivalent) OMIM:192315 E (Exact mapping: the two concepts are equivalent) UMLS:C1860518 E (Exact mapping: the two concepts are equivalent) MEN2A PTC syndrome Sipple syndrome A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone. Orphanet ICD-10:D44.8 ICD-11:2F7A.0 MeSH:D018813 MedDRA:10073148 OMIM:171400 UMLS:C0025268 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247698 Multiple endocrine neoplasia type 2A Clinical subtype ORPHA:247698 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018813 E (Exact mapping: the two concepts are equivalent) MedDRA:10073148 E (Exact mapping: the two concepts are equivalent) OMIM:171400 E (Exact mapping: the two concepts are equivalent) UMLS:C0025268 E (Exact mapping: the two concepts are equivalent) Macroencephaly A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported. Orphanet ICD-10:Q04.5 ICD-11:LA05.1 MedDRA:10050183 OMIM:155350 OMIM:248000 UMLS:C2720434 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2477 Megalencephaly ORPHA:2477 ICD-10:Q04.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA05.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10050183 E (Exact mapping: the two concepts are equivalent) OMIM:155350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:248000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2720434 E (Exact mapping: the two concepts are equivalent) MEN2B Multiple endocrine neoplasia type 3 Wagenmann-Froboese syndrome A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations. Orphanet ICD-10:D44.8 ICD-11:2F7A.0 MeSH:D018814 MedDRA:10056420 OMIM:162300 UMLS:C0025269 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247709 Multiple endocrine neoplasia type 2B Clinical subtype ORPHA:247709 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018814 E (Exact mapping: the two concepts are equivalent) MedDRA:10056420 E (Exact mapping: the two concepts are equivalent) OMIM:162300 E (Exact mapping: the two concepts are equivalent) UMLS:C0025269 E (Exact mapping: the two concepts are equivalent) IMAM A rare idiopathic inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. Orphanet ICD-10:G72.4 UMLS:C4707791 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247718 Inflammatory myopathy with abundant macrophages ORPHA:247718 ICD-10:G72.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707791 E (Exact mapping: the two concepts are equivalent) Idiopathic eosinophilia-associated myopathy A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral Achilles tendon contracture , as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia. Orphanet ICD-10:M60.8 UMLS:C4755301 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247724 Idiopathic eosinophilic myositis ORPHA:247724 ICD-10:M60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755301 E (Exact mapping: the two concepts are equivalent) A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis. Orphanet ICD-10:D17.9 ICD-11:2E80.1 MeSH:D062689 MedDRA:10074547 UMLS:C1260965 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247762 Lipoblastoma ORPHA:247762 ICD-10:D17.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E80.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D062689 E (Exact mapping: the two concepts are equivalent) MedDRA:10074547 E (Exact mapping: the two concepts are equivalent) UMLS:C1260965 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247765 X-linked cerebellar ataxia Category ORPHA:247765 Müllerian duct failure and hyperandrogenism WNT4 deficiency A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone. Orphanet ICD-10:Q51.8 MeSH:C567186 MedDRA:10088125 OMIM:158330 UMLS:C2675014 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247768 Müllerian aplasia and hyperandrogenism ORPHA:247768 ICD-10:Q51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567186 E (Exact mapping: the two concepts are equivalent) MedDRA:10088125 E (Exact mapping: the two concepts are equivalent) OMIM:158330 E (Exact mapping: the two concepts are equivalent) UMLS:C2675014 E (Exact mapping: the two concepts are equivalent) Congenital absence of uterus and vagina MRKH syndrome type 1 Rokitansky sequence Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. Orphanet ICD-10:Q51.8 ICD-11:LB44.Y OMIM:277000 UMLS:C5566555 Autosomal dominant Not applicable Adolescent Antenatal Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Clinical subtype ORPHA:247775 ICD-10:Q51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:277000 E (Exact mapping: the two concepts are equivalent) UMLS:C5566555 E (Exact mapping: the two concepts are equivalent) FTH1-associated iron overload A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities. Orphanet ICD-10:E83.1 OMIM:615517 UMLS:C1851316 Autosomal dominant No data available Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247790 FTH1-related iron overload ORPHA:247790 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615517 E (Exact mapping: the two concepts are equivalent) UMLS:C1851316 E (Exact mapping: the two concepts are equivalent) Juvenile cataract-microcornea-renal glycosuria syndrome A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Orphanet ICD-10:E88.8 OMIM:612018 UMLS:C4302529 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247794 Juvenile cataract-microcornea-renal glucosuria syndrome ORPHA:247794 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612018 E (Exact mapping: the two concepts are equivalent) UMLS:C4302529 E (Exact mapping: the two concepts are equivalent) MUTYH-related AFAP MUTYH-related attenuated FAP MUTYH-related attenuated familial polyposis coli ICD-10:D12.6 ICD-11:2B90.Y MeSH:C563924 OMIM:608456 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247798 MUTYH-related attenuated familial adenomatous polyposis Clinical subtype ORPHA:247798 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563924 E (Exact mapping: the two concepts are equivalent) OMIM:608456 E (Exact mapping: the two concepts are equivalent) MLC Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy syndrome Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Van der Knaap syndrome A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. Orphanet ICD-10:E75.2 ICD-11:8A44.3 MeSH:C536141 OMIM:604004 OMIM:613925 OMIM:613926 UMLS:C1858854 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2478 Megalencephalic leukoencephalopathy with subcortical cysts ORPHA:2478 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536141 E (Exact mapping: the two concepts are equivalent) OMIM:604004 E (Exact mapping: the two concepts are equivalent) OMIM:613925 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613926 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1858854 E (Exact mapping: the two concepts are equivalent) APC-related AFAP APC-related attenuated FAP APC-related attenuated familial polyposis coli ICD-10:D12.6 ICD-11:2B90.Y OMIM:175100 UMLS:C5679615 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247806 APC-related attenuated familial adenomatous polyposis Clinical subtype ORPHA:247806 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:175100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679615 E (Exact mapping: the two concepts are equivalent) Mild peroxisomal disorder due to PEX10 deficiency A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild cognitive disability, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement. Orphanet ICD-10:G11.8 UMLS:C5679614 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247815 Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679614 E (Exact mapping: the two concepts are equivalent) Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Orphanet ICD-10:Q82.8 OMIM:613573 UMLS:C4749852 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome ORPHA:247820 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613573 E (Exact mapping: the two concepts are equivalent) UMLS:C4749852 E (Exact mapping: the two concepts are equivalent) A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Orphanet ICD-10:Q82.8 OMIM:613576 UMLS:C5816683 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome ORPHA:247827 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613576 E (Exact mapping: the two concepts are equivalent) UMLS:C5816683 E (Exact mapping: the two concepts are equivalent) OCMD OMD Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. Orphanet ICD-10:H35.5 ICD-11:9B75.Y OMIM:613587 UMLS:C3150833 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247834 Occult macular dystrophy ORPHA:247834 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B75.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613587 E (Exact mapping: the two concepts are equivalent) UMLS:C3150833 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Oligoarticular juvenile idiopathic arthritis OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies ORPHA:247839 OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Oligoarticular juvenile idiopathic arthritis OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies ORPHA:247846 OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies ORPHA:247854 OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies OBSOLETE: Rheumatoid factor-negative JIA without anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies ORPHA:247861 FCAS2 Familial cold autoinflammatory syndrome type 2 NAPS12 A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. Orphanet ICD-10:E85.0 ICD-11:4A60.Y MeSH:C567090 OMIM:611762 UMLS:C2673198 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247868 NLRP12-associated hereditary periodic fever syndrome ORPHA:247868 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567090 E (Exact mapping: the two concepts are equivalent) OMIM:611762 E (Exact mapping: the two concepts are equivalent) UMLS:C2673198 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune disease with skin involvement OBSOLETE: Vitiligo-associated autoimmune disease ORPHA:247871 MMR syndrome Neuhäuser syndrome Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. Orphanet ICD-10:Q87.8 MeSH:C536143 OMIM:249310 UMLS:C0796086 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2479 Megalocornea-intellectual disability syndrome ORPHA:2479 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536143 E (Exact mapping: the two concepts are equivalent) OMIM:249310 E (Exact mapping: the two concepts are equivalent) UMLS:C0796086 E (Exact mapping: the two concepts are equivalent) AR-HED Autosomal recessive anhidrotic ectodermal dysplasia ICD-10:Q82.4 ICD-11:LD27.02 MeSH:D053360 OMIM:224900 OMIM:614941 OMIM:618535 UMLS:C0406702 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248 Autosomal recessive hypohidrotic ectodermal dysplasia Etiological subtype ORPHA:248 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053360 E (Exact mapping: the two concepts are equivalent) OMIM:224900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614941 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618535 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0406702 E (Exact mapping: the two concepts are equivalent) Idiopathic hypertrophic osteoarthropathy PHO Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms). Orphanet MeSH:D010004 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248095 Primary hypertrophic osteoarthropathy Clinical group ORPHA:248095 MeSH:D010004 E (Exact mapping: the two concepts are equivalent) NCM Neurocutaneous melanosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. Orphanet ICD-10:D22.3 ICD-10:D22.4 ICD-10:D22.5 ICD-10:D22.6 ICD-10:D22.7 ICD-11:2F20.20 MeSH:C537387 OMIM:249400 UMLS:C0544862 Not applicable Childhood Europe AND has_point_prevalence_average_value : 1.25 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2481 Neurocutaneous melanocytosis ORPHA:2481 ICD-10:D22.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D22.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D22.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D22.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D22.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F20.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537387 E (Exact mapping: the two concepts are equivalent) OMIM:249400 E (Exact mapping: the two concepts are equivalent) UMLS:C0544862 E (Exact mapping: the two concepts are equivalent) JHD Juvenile Huntington chorea Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age. Orphanet ICD-10:G10 OMIM:143100 UMLS:C0751208 Autosomal dominant Adolescent Childhood Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248111 Juvenile Huntington disease ORPHA:248111 ICD-10:G10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:143100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751208 E (Exact mapping: the two concepts are equivalent) Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report. Orphanet ICD-10:Q76.4 ICD-11:LD24.H MeSH:C537238 UMLS:C2931453 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2482 Melhem-Fahl syndrome ORPHA:2482 ICD-10:Q76.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.H - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537238 E (Exact mapping: the two concepts are equivalent) UMLS:C2931453 E (Exact mapping: the two concepts are equivalent) 4q21.3 JNK3 p493F12 p54bSAPK ClinVar:MAPK10 Ensembl:ENSG00000109339 Genatlas:MAPK10 HGNC:6872 IUPHAR:1498 OMIM:602897 Reactome:P53779 SwissProt:P53779 MAPK10 mitogen-activated protein kinase 10 UMLS:C5680694 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248293 Rare deficiency anemia Category ORPHA:248293 UMLS:C5680694 E (Exact mapping: the two concepts are equivalent) UMLS:C5680695 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248296 Constitutional deficiency anemia Category ORPHA:248296 UMLS:C5680695 E (Exact mapping: the two concepts are equivalent) A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema. Orphanet ICD-10:G51.2 ICD-11:8B88.Y MeSH:D008556 MedDRA:10027166 OMIM:155900 UMLS:C0025235 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2483 Melkersson-Rosenthal syndrome ORPHA:2483 ICD-10:G51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008556 E (Exact mapping: the two concepts are equivalent) MedDRA:10027166 E (Exact mapping: the two concepts are equivalent) OMIM:155900 E (Exact mapping: the two concepts are equivalent) UMLS:C0025235 E (Exact mapping: the two concepts are equivalent) UMLS:C5680693 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248302 Rare acquired deficiency anemia Category ORPHA:248302 UMLS:C5680693 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hemolytic anemia due to a disorder of glycolytic enzymes OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency ORPHA:248305 Rare bleeding disorder UMLS:C5679621 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248308 Rare hemorrhagic disorder Category ORPHA:248308 UMLS:C5679621 E (Exact mapping: the two concepts are equivalent) Rare bleeding disorder due to a coagulation factors defect Rare coagulopathy due to a coagulation factor defect UMLS:C5679620 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248315 Rare hemorrhagic disorder due to a coagulation factors defect Category ORPHA:248315 UMLS:C5679620 E (Exact mapping: the two concepts are equivalent) Rare bleeding disorder due to a platelet anomaly Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia Rare coagulopathy due to a platelet anomaly Rare coagulopathy due to a thrombopathy and/or thrombocytopenia Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia UMLS:C5679619 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248326 Rare hemorrhagic disorder due to a platelet anomaly Category ORPHA:248326 UMLS:C5679619 E (Exact mapping: the two concepts are equivalent) Isolated delta-SPD Isolated dense-SPD Isolated dense-storage pool disease Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery. Orphanet ICD-10:D69.1 ICD-11:3B62.3 OMIM:617443 UMLS:C0032197 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248340 Isolated delta-storage pool disease ORPHA:248340 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:617443 E (Exact mapping: the two concepts are equivalent) UMLS:C0032197 E (Exact mapping: the two concepts are equivalent) Rare bleeding disorder due to an acquired platelet anomaly Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia Rare coagulopathy due to an acquired platelet anomaly Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia UMLS:C5679622 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248347 Rare hemorrhagic disorder due to an acquired platelet anomaly Category ORPHA:248347 UMLS:C5679622 E (Exact mapping: the two concepts are equivalent) UMLS:C5680692 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248358 Rare thrombotic disorder due to a coagulation factors defect Category ORPHA:248358 UMLS:C5680692 E (Exact mapping: the two concepts are equivalent) UMLS:C5680691 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248361 Rare thrombotic disorder due to a constitutional coagulation factors defect Category ORPHA:248361 UMLS:C5680691 E (Exact mapping: the two concepts are equivalent) UMLS:C5680688 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248365 Rare thrombotic disorder due to an acquired coagulation factors defect Category ORPHA:248365 UMLS:C5680688 E (Exact mapping: the two concepts are equivalent) UMLS:C5680687 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248368 Rare thrombotic disorder due to a platelet anomaly Category ORPHA:248368 UMLS:C5680687 E (Exact mapping: the two concepts are equivalent) Melnick-Needles osteodysplasty Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. Orphanet ICD-10:Q77.8 ICD-11:LD25.1 MedDRA:10060908 OMIM:309350 UMLS:C0025237 X-linked dominant Childhood Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2484 Melnick-Needles syndrome ORPHA:2484 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10060908 E (Exact mapping: the two concepts are equivalent) OMIM:309350 E (Exact mapping: the two concepts are equivalent) UMLS:C0025237 E (Exact mapping: the two concepts are equivalent) UMLS:C5680686 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248401 Rare thrombotic disorder due to a constitutional platelet anomaly Category ORPHA:248401 UMLS:C5680686 E (Exact mapping: the two concepts are equivalent) UMLS:C5680685 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248404 Rare thrombotic disorder due to an acquired platelet anomaly Category ORPHA:248404 UMLS:C5680685 E (Exact mapping: the two concepts are equivalent) ICD-10:D68.2 ICD-11:3B14.0 OMIM:616004 UMLS:C0472803 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248408 Familial hypodysfibrinogenemia Clinical subtype ORPHA:248408 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616004 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0472803 E (Exact mapping: the two concepts are equivalent) Xp11.23 FLJ16239 HD6 JM21 KDAC6 KIAA0901 PPP1R90 alpha-tubulin deacetylase HDAC6 protein phosphatase 1, regulatory subunit 90 ClinVar:HDAC6 Ensembl:ENSG00000094631 Genatlas:HDAC6 HGNC:14064 IUPHAR:2618 OMIM:300272 Reactome:Q9UBN7 SwissProt:Q9UBN7 HDAC6 histone deacetylase 6 12q14.3 BABL LIPO ClinVar:HMGA2 Ensembl:ENSG00000149948 Genatlas:HMGA2 HGNC:5009 OMIM:600698 Reactome:P52926 SwissProt:P52926 HMGA2 high mobility group AT-hook 2 Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. Orphanet ICD-10:M85.8 ICD-11:LD24.1Y MeSH:D008557 MedDRA:10050284 OMIM:155950 UMLS:C0025239 Not applicable All ages Europe AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2485 Melorheostosis ORPHA:2485 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008557 E (Exact mapping: the two concepts are equivalent) MedDRA:10050284 E (Exact mapping: the two concepts are equivalent) OMIM:155950 E (Exact mapping: the two concepts are equivalent) UMLS:C0025239 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial cerebral cavernous malformation Transverse limb deficiency-hemangioma syndrome ORPHA:2486 Fried-Goldberg-Mundel syndrome Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. Orphanet ICD-10:Q87.2 MeSH:C535640 UMLS:C2930962 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2487 Lower limb malformation-hypospadias syndrome ORPHA:2487 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535640 E (Exact mapping: the two concepts are equivalent) UMLS:C2930962 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Orphanet ICD-10:Q87.8 OMIM:274205 UMLS:C4274838 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2489 Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:274205 E (Exact mapping: the two concepts are equivalent) UMLS:C4274838 E (Exact mapping: the two concepts are equivalent) A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits. Orphanet ICD-10:Q78.1 ICD-11:FB80.0 MeSH:D005357 MedDRA:10016664 UMLS:C0259779 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=249 Fibrous dysplasia of bone ORPHA:249 ICD-10:Q78.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB80.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005357 E (Exact mapping: the two concepts are equivalent) MedDRA:10016664 E (Exact mapping: the two concepts are equivalent) UMLS:C0259779 E (Exact mapping: the two concepts are equivalent) A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:146160 UMLS:C4274837 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2491 Müllerian duct anomalies-limb anomalies syndrome ORPHA:2491 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:146160 E (Exact mapping: the two concepts are equivalent) UMLS:C4274837 E (Exact mapping: the two concepts are equivalent) Fibular aplasia-tibial campomelia-oligosyndactyly syndrome Hecht-Scott syndrome A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated. Orphanet ICD-10:Q87.2 MeSH:C565436 OMIM:246570 UMLS:C1855499 Antenatal Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2492 FATCO syndrome ORPHA:2492 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565436 E (Exact mapping: the two concepts are equivalent) OMIM:246570 E (Exact mapping: the two concepts are equivalent) UMLS:C1855499 E (Exact mapping: the two concepts are equivalent) Giant hypertrophic gastritis Hypoproteinemic hypertrophic gastropathy Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. Orphanet ICD-10:K29.6 ICD-11:DA42.6 OMIM:137280 UMLS:C0017155 Autosomal dominant Not applicable Unknown Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2494 Ménétrier disease ORPHA:2494 ICD-10:K29.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA42.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:137280 E (Exact mapping: the two concepts are equivalent) UMLS:C0017155 E (Exact mapping: the two concepts are equivalent) A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control. Orphanet ICD-10:D32.9 ICD-11:2A01.0 MeSH:D008579 MedDRA:10027191 OMIM:606190 UMLS:C0025286 Not applicable All ages Europe AND has_point_prevalence_range : Unknown Germany AND has_annual_incidence_average_value : 4.15 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 8.14 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2495 Meningioma ORPHA:2495 ICD-10:D32.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008579 E (Exact mapping: the two concepts are equivalent) MedDRA:10027191 E (Exact mapping: the two concepts are equivalent) OMIM:606190 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0025286 E (Exact mapping: the two concepts are equivalent) 8q13 microdeletion syndrome Del(8)q(13) Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Monosomy 8q13 Verloes-David syndrome A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Orphanet ICD-10:Q74.8 ICD-11:LD24.9 MeSH:C537348 OMIM:600383 UMLS:C1838162 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2496 Mesomelia-synostoses syndrome ORPHA:2496 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537348 E (Exact mapping: the two concepts are equivalent) OMIM:600383 E (Exact mapping: the two concepts are equivalent) UMLS:C1838162 E (Exact mapping: the two concepts are equivalent) Fryns-Hofkens-Fabry syndrome Ulna hypoplasia A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. Orphanet ICD-10:Q78.8 ICD-11:LD24.A MeSH:C538069 OMIM:191440 UMLS:C5574958 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2497 Upper limb mesomelic dysplasia, type Fryns ORPHA:2497 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538069 E (Exact mapping: the two concepts are equivalent) OMIM:191440 E (Exact mapping: the two concepts are equivalent) UMLS:C5574958 E (Exact mapping: the two concepts are equivalent) Fusion of metacarpals 4 and 5 A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers. Orphanet ICD-10:Q70.0 ICD-11:LB79.Y MeSH:C564100 OMIM:309630 UMLS:C1839728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2498 Syndactyly type 8 ORPHA:2498 ICD-10:Q70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564100 E (Exact mapping: the two concepts are equivalent) OMIM:309630 E (Exact mapping: the two concepts are equivalent) UMLS:C1839728 E (Exact mapping: the two concepts are equivalent) Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. Orphanet ICD-10:Q78.4 ICD-11:LD24.2Y MeSH:C562938 OMIM:156250 UMLS:C0410530 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2499 Metachondromatosis ORPHA:2499 ICD-10:Q78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562938 E (Exact mapping: the two concepts are equivalent) OMIM:156250 E (Exact mapping: the two concepts are equivalent) UMLS:C0410530 E (Exact mapping: the two concepts are equivalent) GA1 GCDHD Glutaric acidemia type 1 Glutaric aciduria type 1 Glutaryl-coenzyme A dehydrogenase deficiency Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. Orphanet ICD-10:E72.3 ICD-11:5C50.E1 MeSH:C536833 OMIM:231670 UMLS:C0268595 Autosomal recessive Infancy Neonatal Czech Republic AND has_birth_prevalence_average_value : 0.56 AND has_birth_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 2.85 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 333.0 AND has_point_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 0.76 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=25 Glutaryl-CoA dehydrogenase deficiency ORPHA:25 ICD-10:E72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536833 E (Exact mapping: the two concepts are equivalent) OMIM:231670 E (Exact mapping: the two concepts are equivalent) UMLS:C0268595 E (Exact mapping: the two concepts are equivalent) Median cleft face syndrome A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement. Orphanet MeSH:C538065 UMLS:C1876203 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250 Frontonasal dysplasia Clinical group ORPHA:250 MeSH:C538065 E (Exact mapping: the two concepts are equivalent) UMLS:C1876203 E (Exact mapping: the two concepts are equivalent) Acrogeria, Gottron type Acrometageria Gottron syndrome A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established. Orphanet ICD-10:L90.8 ICD-11:LD2B MeSH:C538187 OMIM:201200 UMLS:C0238590 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2500 Acrogeria ORPHA:2500 ICD-10:L90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538187 E (Exact mapping: the two concepts are equivalent) OMIM:201200 E (Exact mapping: the two concepts are equivalent) UMLS:C0238590 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated. Orphanet ICD-10:Q78.5 ICD-11:LD24.7 MeSH:C537353 OMIM:250400 UMLS:C0432225 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2501 Metaphyseal chondrodysplasia, Spahr type ORPHA:2501 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537353 E (Exact mapping: the two concepts are equivalent) OMIM:250400 E (Exact mapping: the two concepts are equivalent) UMLS:C0432225 E (Exact mapping: the two concepts are equivalent) UMLS:C5680689 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250165 Genetic polycythemia Category ORPHA:250165 UMLS:C5680689 E (Exact mapping: the two concepts are equivalent) 13q12.2 AC19 MGC9850 RPA16 RPA9 RPAC2 RPO1-3 ClinVar:POLR1D Ensembl:ENSG00000186184 Genatlas:POLR1D HGNC:20422 OMIM:613715 Reactome:Q9Y2S0 SwissProt:P0DPB5 SwissProt:P0DPB6 POLR1D RNA polymerase I and III subunit D Xq21.1 DKFZp564K142 IAP MRX95 OST3B SLC58A1 oligosaccharyltransferase 3 homolog B (S. cerevisiae) ClinVar:MAGT1 Ensembl:ENSG00000102158 Genatlas:MAGT1 HGNC:28880 IUPHAR:3039 OMIM:300715 Reactome:Q9H0U3 SwissProt:Q9H0U3 MAGT1 magnesium transporter 1 12p13.31 ClinVar:GDF3 Ensembl:ENSG00000184344 Genatlas:GDF3 HGNC:4218 OMIM:606522 SwissProt:Q9NR23 GDF3 growth differentiation factor 3 6p21.1 AC40 RPA39 RPA40 RPA5 RPAC1 RPC40 ClinVar:POLR1C Ensembl:ENSG00000171453 Genatlas:POLR1C HGNC:20194 OMIM:610060 Reactome:O15160 SwissProt:O15160 POLR1C RNA polymerase I and III subunit C Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. Orphanet ICD-10:Q78.5 ICD-11:LD2H.Y OMIM:250420 UMLS:C4518775 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:250420 E (Exact mapping: the two concepts are equivalent) UMLS:C4518775 E (Exact mapping: the two concepts are equivalent) Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. Orphanet ICD-10:Q77.8 ICD-11:LD24.7 OMIM:156510 UMLS:C4510380 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ORPHA:2504 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:156510 E (Exact mapping: the two concepts are equivalent) UMLS:C4510380 E (Exact mapping: the two concepts are equivalent) CCSF Circumferential skin creases, Kunze type Congenital circumferential skin folds Kunze-Riehm syndrome A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles. Orphanet ICD-10:Q82.8 MeSH:C537575 OMIM:156610 OMIM:616734 UMLS:C0473586 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2505 Multiple benign circumferential skin creases on limbs ORPHA:2505 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537575 E (Exact mapping: the two concepts are equivalent) OMIM:156610 E (Exact mapping: the two concepts are equivalent) OMIM:616734 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0473586 E (Exact mapping: the two concepts are equivalent) 3MC1 syndrome Oculopalatoskeletal syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3MC syndrome OMIM:257920 UMLS:C0796059 Michels syndrome ORPHA:2506 OMIM:257920 E (Exact mapping: the two concepts are equivalent) UMLS:C0796059 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia OBSOLETE: Mickleson syndrome ORPHA:2507 ACC-abnormal genitalia syndrome Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome Proud syndrome Proud-Levine-Carpenter syndrome Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed. Orphanet ICD-10:Q87.8 MeSH:C563110 OMIM:300004 UMLS:C0796124 X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2508 Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563110 E (Exact mapping: the two concepts are equivalent) OMIM:300004 E (Exact mapping: the two concepts are equivalent) UMLS:C0796124 E (Exact mapping: the two concepts are equivalent) UMLS:C5680704 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250805 Serpinopathy Category ORPHA:250805 UMLS:C5680704 E (Exact mapping: the two concepts are equivalent) UMLS:C5680703 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250808 Serpinopathy with toxic serpin polymerization Category ORPHA:250808 UMLS:C5680703 E (Exact mapping: the two concepts are equivalent) UMLS:C5680705 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250811 Serpinopathy with loss of serpin function Category ORPHA:250811 UMLS:C5680705 E (Exact mapping: the two concepts are equivalent) LPA Logopenic primary progressive aphasia Logopenic variant PPA Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. Orphanet ICD-10:G31.0 ICD-11:6D83 UMLS:C4274665 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250831 Logopenic progressive aphasia ORPHA:250831 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274665 E (Exact mapping: the two concepts are equivalent) Rare tumoral disease UMLS:C5679627 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250908 Rare neoplastic disease Category Head of classification ORPHA:250908 UMLS:C5679627 E (Exact mapping: the two concepts are equivalent) Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. Orphanet ICD-10:Q13.1 ICD-11:LA11.3 OMIM:106210 OMIM:617141 OMIM:617142 UMLS:C0003076 Autosomal dominant Not applicable Neonatal Europe AND has_annual_incidence_average_value : 1.31 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250923 Isolated aniridia ORPHA:250923 ICD-10:Q13.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:106210 E (Exact mapping: the two concepts are equivalent) OMIM:617141 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617142 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0003076 E (Exact mapping: the two concepts are equivalent) A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. Orphanet ICD-10:H47.2 UMLS:C4273829 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250932 Autosomal dominant optic atrophy and peripheral neuropathy ORPHA:250932 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4273829 E (Exact mapping: the two concepts are equivalent) Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. Orphanet ICD-10:Q04.3 MeSH:C567715 UMLS:C2750798 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250972 Polymicrogyria with optic nerve hypoplasia ORPHA:250972 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567715 E (Exact mapping: the two concepts are equivalent) UMLS:C2750798 E (Exact mapping: the two concepts are equivalent) 5-amino-4-imidazole carboxamide ribosiduria AICA-ribosiduria due to ATIC deficiency AICAR transformylase/IMP cyclohydrolase deficiency ATIC deficiency A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. Orphanet ICD-10:E79.8 ICD-11:5C55.0Y MeSH:C563876 OMIM:608688 UMLS:C1837530 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250977 AICA-ribosiduria ORPHA:250977 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563876 E (Exact mapping: the two concepts are equivalent) OMIM:608688 E (Exact mapping: the two concepts are equivalent) UMLS:C1837530 E (Exact mapping: the two concepts are equivalent) A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. Orphanet ICD-10:Q87.5 ICD-11:LD2F.1Y OMIM:614134 OMIM:614284 OMIM:620022 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250984 Autosomal recessive Stickler syndrome Clinical subtype ORPHA:250984 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614134 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614284 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620022 BTNT (ORPHAcode is broader than the targeted code used to represent it) Del(1)(q21) Monosomy 1q21.1 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. Orphanet ICD-10:Q93.5 ICD-11:LD44.10 MeSH:C567291 OMIM:612474 UMLS:C2675897 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250989 1q21.1 microdeletion syndrome ORPHA:250989 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567291 E (Exact mapping: the two concepts are equivalent) OMIM:612474 E (Exact mapping: the two concepts are equivalent) UMLS:C2675897 E (Exact mapping: the two concepts are equivalent) Dup(1)(q21.1) Trisomy 1q21.1 1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. Orphanet ICD-10:Q92.3 ICD-11:LD41.00 OMIM:612475 UMLS:C4749853 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 46.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250994 1q21.1 microduplication syndrome ORPHA:250994 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612475 E (Exact mapping: the two concepts are equivalent) UMLS:C4749853 E (Exact mapping: the two concepts are equivalent) Del(1)(q41q42) Monosomy 1q41q42 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Orphanet ICD-10:Q93.5 ICD-11:LD44.10 OMIM:612530 UMLS:C4274528 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=250999 1q41q42 microdeletion syndrome ORPHA:250999 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612530 E (Exact mapping: the two concepts are equivalent) UMLS:C4274528 E (Exact mapping: the two concepts are equivalent) EDM MED Polyepiphyseal dysplasia A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features. Orphanet ICD-11:LD24.61 MedDRA:10028197 UMLS:C0026760 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251 Multiple epiphyseal dysplasia Clinical group ORPHA:251 ICD-11:LD24.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10028197 E (Exact mapping: the two concepts are equivalent) UMLS:C0026760 E (Exact mapping: the two concepts are equivalent) WARBM Warburg micro syndrome Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Orphanet ICD-10:Q87.0 ICD-11:LD20.1 OMIM:600118 OMIM:614222 OMIM:614225 OMIM:615663 UMLS:C5442005 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 203.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2510 Micro syndrome ORPHA:2510 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600118 E (Exact mapping: the two concepts are equivalent) OMIM:614222 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614225 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615663 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5442005 E (Exact mapping: the two concepts are equivalent) UPD(1)pat Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C4707800 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251004 Paternal uniparental disomy of chromosome 1 syndrome ORPHA:251004 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707800 E (Exact mapping: the two concepts are equivalent) UPD(1)mat Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C4749302 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251009 Maternal uniparental disomy of chromosome 1 syndrome ORPHA:251009 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749302 E (Exact mapping: the two concepts are equivalent) Del(2)(q31.1) Monosomy 2q31.1 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. Orphanet ICD-10:Q93.5 ICD-11:LD44.20 UMLS:C4274647 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251014 2q31.1 microdeletion syndrome ORPHA:251014 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274647 E (Exact mapping: the two concepts are equivalent) Del(2)(q32) Del(2)(q32q33) Monosomy 2q32 Monosomy 2q32q33 A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Orphanet ICD-10:Q93.5 ICD-11:LD44.20 OMIM:612313 UMLS:C4304531 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251019 2q32q33 microdeletion syndrome ORPHA:251019 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612313 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304531 E (Exact mapping: the two concepts are equivalent) 2q33.1 microdeletion syndrome Del(2)(q33.1) Monosomy 2q33.1 ICD-10:Q93.5 OMIM:612313 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251028 SATB2-associated syndrome due to a chromosomal rearrangement Etiological subtype ORPHA:251028 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612313 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Trisomy 3q29 3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. Orphanet ICD-10:Q92.3 ICD-11:LD41.20 MeSH:C567626 OMIM:611936 UMLS:C2749873 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251038 3q29 microduplication syndrome ORPHA:251038 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567626 E (Exact mapping: the two concepts are equivalent) OMIM:611936 E (Exact mapping: the two concepts are equivalent) UMLS:C2749873 E (Exact mapping: the two concepts are equivalent) Ring 5 Ring chromosome 5 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). Orphanet ICD-10:Q93.2 ICD-11:LD7Y UMLS:C4707450 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251043 Ring chromosome 5 syndrome ORPHA:251043 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707450 E (Exact mapping: the two concepts are equivalent) Del(6)(p22) Monosomy 6p22 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Orphanet ICD-10:Q93.5 ICD-11:LD44.61 UMLS:C4304528 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251046 6p22 microdeletion syndrome ORPHA:251046 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304528 E (Exact mapping: the two concepts are equivalent) Del(6)(q25) Monosomy 6q25 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. Orphanet ICD-10:Q93.5 ICD-11:LD44.60 OMIM:612863 UMLS:C4304527 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251056 6q25.2q25.3 microdeletion syndrome ORPHA:251056 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612863 E (Exact mapping: the two concepts are equivalent) UMLS:C4304527 E (Exact mapping: the two concepts are equivalent) Del(7)(q31) Monosomy 7q31 7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. Orphanet ICD-10:Q93.5 ICD-11:LD44.70 UMLS:C4750783 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251061 7q31 microdeletion syndrome ORPHA:251061 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4750783 E (Exact mapping: the two concepts are equivalent) Del(8)(p11.2) Monosomy 8p11.2 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. Orphanet ICD-10:Q93.5 ICD-11:LD44.81 UMLS:C4304505 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251066 8p11.2 deletion syndrome ORPHA:251066 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304505 E (Exact mapping: the two concepts are equivalent) Del(8)(p23.1) Monosomy 8p23.1 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. Orphanet ICD-10:Q93.5 ICD-11:LD44.81 MeSH:C537827 UMLS:C2931638 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251071 8p23.1 microdeletion syndrome ORPHA:251071 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537827 E (Exact mapping: the two concepts are equivalent) UMLS:C2931638 E (Exact mapping: the two concepts are equivalent) Dup(8)(p23.1p23.1) Trisomy 8p23.1 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). Orphanet ICD-10:Q92.3 ICD-11:LD41.71 UMLS:C4707330 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 1.72 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251076 8p23.1 duplication syndrome ORPHA:251076 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707330 E (Exact mapping: the two concepts are equivalent) Richieri Costa-Guion Almeida-Ramos syndrome Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Orphanet ICD-10:Q87.8 OMIM:268850 UMLS:C4518461 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2511 Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:268850 E (Exact mapping: the two concepts are equivalent) UMLS:C4518461 E (Exact mapping: the two concepts are equivalent) MCPH Microcephalia vera Microcephaly vera True microcephaly Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Orphanet ICD-10:Q02 ICD-11:LA05.0 MeSH:C579935 OMIM:251200 OMIM:603802 OMIM:604317 OMIM:604321 OMIM:604804 OMIM:608393 OMIM:608716 OMIM:612703 OMIM:614673 OMIM:614852 OMIM:616051 OMIM:616080 OMIM:616402 OMIM:616486 OMIM:616681 OMIM:617090 OMIM:617800 OMIM:617914 OMIM:617983 OMIM:617984 OMIM:617985 OMIM:618179 OMIM:618351 OMIM:619453 OMIM:620183 UMLS:C3711387 Autosomal recessive Antenatal Neonatal Pakistan AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2512 Autosomal recessive primary microcephaly Etiological subtype ORPHA:2512 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C579935 E (Exact mapping: the two concepts are equivalent) OMIM:251200 E (Exact mapping: the two concepts are equivalent) OMIM:603802 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604317 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604321 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604804 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608393 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608716 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612703 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614673 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614852 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616051 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616080 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616402 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616486 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616681 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617914 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617983 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617984 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617985 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618179 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618351 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619453 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620183 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3711387 E (Exact mapping: the two concepts are equivalent) Osteochondritis dissecans and short stature Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. Orphanet ICD-10:M93.2 ICD-11:FB82.1 MeSH:C580095 UMLS:C3665488 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251262 Familial osteochondritis dissecans ORPHA:251262 ICD-10:M93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580095 E (Exact mapping: the two concepts are equivalent) UMLS:C3665488 E (Exact mapping: the two concepts are equivalent) 4p15.2 O-phosphoseryl-tRNA(Sec) selenium transferase SLA SLA-p35 SLA/LP SecS soluble liver antigen/liver pancreas antigen ClinVar:SEPSECS Ensembl:ENSG00000109618 Genatlas:SEPSECS HGNC:30605 OMIM:613009 Reactome:Q9HD40 SwissProt:Q9HD40 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase FH-III FH3 Familial hyperaldosteronism type 3 A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. Orphanet ICD-10:E26.0 ICD-11:5A72.0 OMIM:613677 UMLS:C3838758 Autosomal dominant Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251274 Familial hyperaldosteronism type III ORPHA:251274 ICD-10:E26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613677 E (Exact mapping: the two concepts are equivalent) UMLS:C3838758 E (Exact mapping: the two concepts are equivalent) Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma. Orphanet ICD-10:Q15.8 OMIM:611040 UMLS:C4755272 Autosomal recessive Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome ORPHA:251279 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:611040 E (Exact mapping: the two concepts are equivalent) UMLS:C4755272 E (Exact mapping: the two concepts are equivalent) SPAX1 A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Orphanet ICD-10:G11.4 ICD-11:8A03.1Y MeSH:C566993 OMIM:108600 UMLS:C1970107 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251282 Autosomal dominant spastic ataxia type 1 ORPHA:251282 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566993 E (Exact mapping: the two concepts are equivalent) OMIM:108600 E (Exact mapping: the two concepts are equivalent) UMLS:C1970107 E (Exact mapping: the two concepts are equivalent) Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration. Orphanet ICD-10:H35.5 ICD-11:9B75.Y OMIM:153870 UMLS:C4304667 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251287 Benign concentric annular macular dystrophy ORPHA:251287 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B75.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:153870 E (Exact mapping: the two concepts are equivalent) UMLS:C4304667 E (Exact mapping: the two concepts are equivalent) Parietal foramina with cleidocranial dysplasia A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. Orphanet ICD-10:Q74.0 MeSH:C566825 OMIM:168550 UMLS:C1868597 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251290 Parietal foramina with clavicular hypoplasia ORPHA:251290 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566825 E (Exact mapping: the two concepts are equivalent) OMIM:168550 E (Exact mapping: the two concepts are equivalent) UMLS:C1868597 E (Exact mapping: the two concepts are equivalent) PPRCA Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. Orphanet ICD-10:H35.5 ICD-11:9B7Y MeSH:C566801 OMIM:172870 UMLS:C1868310 Autosomal dominant Not applicable All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251295 Pigmented paravenous retinochoroidal atrophy ORPHA:251295 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566801 E (Exact mapping: the two concepts are equivalent) OMIM:172870 E (Exact mapping: the two concepts are equivalent) UMLS:C1868310 E (Exact mapping: the two concepts are equivalent) Castro Gago-Pombo-Novo syndrome Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Orphanet ICD-10:Q87.8 MeSH:C537322 OMIM:203340 UMLS:C1859910 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2513 Microcephaly-albinism-digital anomalies syndrome ORPHA:2513 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537322 E (Exact mapping: the two concepts are equivalent) OMIM:203340 E (Exact mapping: the two concepts are equivalent) UMLS:C1859910 E (Exact mapping: the two concepts are equivalent) A rare granulomatous autoinflammatroy syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. Orphanet ICD-10:M08.8 ICD-11:EB7Y UMLS:C4750785 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251304 Infantile onset panniculitis with uveitis and systemic granulomatosis ORPHA:251304 ICD-10:M08.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4750785 E (Exact mapping: the two concepts are equivalent) Idiopathic relapsing pericarditis Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. Orphanet ICD-10:I09.2 UMLS:C4707790 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251307 Idiopathic recurrent pericarditis ORPHA:251307 ICD-10:I09.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707790 E (Exact mapping: the two concepts are equivalent) ICD-10:M35.1 UMLS:C1858556 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251312 Overlapping connective tissue disease Clinical group ORPHA:251312 ICD-10:M35.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1858556 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Undifferentiated connective tissue syndrome OBSOLETE: Unclassified overlapping connective tissue disease ORPHA:251316 A rare secondary vasculitis characterized by inflammation of blood vessels caused by various drugs, including antibiotics, anti-tumor necrosis factor-alpha agents, immunotherapeutic drugs, and psychoactive agents, among others. The skin is most commonly affected, but other tissues and organs, such as the subcutis, kidneys, or lungs, may also be involved. Systemic disease develops only in a minority of patients, typically when treated with the causative drug over a prolonged period of time. Presenting signs and symptoms include skin rash, myalgia, arthralgia, fever, and malaise. Orphanet ICD-10:M31.8 ICD-11:4A85.03 UMLS:C0340672 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251325 Drug-induced vasculitis ORPHA:251325 ICD-10:M31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A85.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0340672 E (Exact mapping: the two concepts are equivalent) A rare vasculitis characterized by an inflammatory disease of blood vessels which cannot be assigned to any of the known categories of vasculitis. Clinical features are highly variable, depending on the nature and extent of the inflammatory process, as well as the type of vessels and organ systems involved. Orphanet ICD-10:I77.6 UMLS:C5680712 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251328 Unclassified vasculitis ORPHA:251328 ICD-10:I77.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680712 E (Exact mapping: the two concepts are equivalent) Persistent fever/inflammation of unknown origin A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics. Orphanet ICD-10:R65.2 UMLS:C5679630 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251332 Unexplained long-lasting fever/inflammatory syndrome ORPHA:251332 ICD-10:R65.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679630 E (Exact mapping: the two concepts are equivalent) ATLD A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent. Orphanet ICD-10:G11.3 ICD-11:4A01.31 MeSH:C565779 OMIM:604391 UMLS:C1858391 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251347 Ataxia-telangiectasia-like disorder ORPHA:251347 ICD-10:G11.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565779 E (Exact mapping: the two concepts are equivalent) OMIM:604391 E (Exact mapping: the two concepts are equivalent) UMLS:C1858391 E (Exact mapping: the two concepts are equivalent) Double heterozygotes sickling disorder UMLS:C5679629 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251355 Sickle cell disease associated with another hemoglobin anomaly Category ORPHA:251355 UMLS:C5679629 E (Exact mapping: the two concepts are equivalent) HbS-beta-thalassemia syndrome A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly. Orphanet ICD-10:D57.2 ICD-11:3A51.3 ICD-11:3A51.4 MedDRA:10040655 UMLS:C0221019 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251359 Sickle cell-beta-thalassemia disease syndrome ORPHA:251359 ICD-10:D57.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A51.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10040655 E (Exact mapping: the two concepts are equivalent) UMLS:C0221019 E (Exact mapping: the two concepts are equivalent) HbSC disease A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis. Orphanet ICD-10:D57.2 ICD-11:3A51.3 ICD-11:3A51.4 MeSH:D006450 MedDRA:10057072 UMLS:C0019034 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251365 Sickle cell-hemoglobin C disease syndrome ORPHA:251365 ICD-10:D57.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A51.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D006450 E (Exact mapping: the two concepts are equivalent) MedDRA:10057072 E (Exact mapping: the two concepts are equivalent) UMLS:C0019034 E (Exact mapping: the two concepts are equivalent) HbSD disease A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln. Orphanet ICD-10:D57.2 ICD-11:3A51.3 MedDRA:10056724 UMLS:C0272084 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251370 Sickle cell-hemoglobin D disease syndrome ORPHA:251370 ICD-10:D57.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10056724 E (Exact mapping: the two concepts are equivalent) UMLS:C0272084 E (Exact mapping: the two concepts are equivalent) HbSE disease A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%). Orphanet ICD-10:D57.2 ICD-11:3A51.3 UMLS:C1112747 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251375 Sickle cell-hemoglobin E disease syndrome ORPHA:251375 ICD-10:D57.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1112747 E (Exact mapping: the two concepts are equivalent) HPFH-sickle cell disease syndrome A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF. Orphanet ICD-10:D57.2 ICD-11:3A51.3 OMIM:141749 OMIM:142335 OMIM:142470 OMIM:305435 OMIM:613566 UMLS:C5190890 Autosomal recessive All ages Europe AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 10.6 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome ORPHA:251380 ICD-10:D57.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:141749 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:142335 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:142470 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613566 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190890 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Orphanet ICD-10:Q87.0 OMIM:300831 UMLS:C3151781 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251383 CK syndrome ORPHA:251383 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300831 E (Exact mapping: the two concepts are equivalent) UMLS:C3151781 E (Exact mapping: the two concepts are equivalent) JEB-nH loc Junctional epidermolysis bullosa, non-Herlitz localized type Localized JEB A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries. Orphanet ICD-10:Q81.8 ICD-11:EC31 OMIM:226650 UMLS:C5700116 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251393 Localized junctional epidermolysis bullosa ORPHA:251393 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:226650 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5700116 E (Exact mapping: the two concepts are equivalent) A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. Orphanet ICD-10:Q02 ICD-11:LA05.0 MeSH:C537323 OMIM:156580 OMIM:616311 OMIM:617520 OMIM:619179 OMIM:619180 UMLS:C4755316 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2514 Autosomal dominant primary microcephaly Etiological subtype ORPHA:2514 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537323 E (Exact mapping: the two concepts are equivalent) OMIM:156580 E (Exact mapping: the two concepts are equivalent) OMIM:616311 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617520 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619179 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619180 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4755316 E (Exact mapping: the two concepts are equivalent) Winship-Viljoen-Leary syndrome Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Orphanet ICD-10:Q87.8 MeSH:C536711 OMIM:251220 UMLS:C1855080 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2515 Microcephaly-cardiomyopathy syndrome ORPHA:2515 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536711 E (Exact mapping: the two concepts are equivalent) OMIM:251220 E (Exact mapping: the two concepts are equivalent) UMLS:C1855080 E (Exact mapping: the two concepts are equivalent) 1p36.11 FLJ20477 GPI mannosyltransferase 2 GPI-MT-II PIG-V dol-P-Man dependent GPI mannosyltransferase II ClinVar:PIGV Ensembl:ENSG00000060642 Genatlas:PIGV HGNC:26031 OMIM:610274 Reactome:Q9NUD9 SwissProt:Q9NUD9 PIGV phosphatidylinositol glycan anchor biosynthesis class V 46,XY PGD 46,XY partial testicular dysgenesis A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype. Orphanet ICD-10:Q56.1 ICD-11:LD2A.1 OMIM:154230 OMIM:300018 OMIM:612965 OMIM:613762 OMIM:615542 OMIM:616067 OMIM:616425 UMLS:C4510744 Autosomal dominant Autosomal recessive X-linked recessive Y-linked Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251510 46,XY partial gonadal dysgenesis ORPHA:251510 ICD-10:Q56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:154230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300018 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612965 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613762 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615542 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616067 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616425 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4510744 E (Exact mapping: the two concepts are equivalent) DA10 Plantar flexion contracture Short Achilles tendon Short tendo calcaneus A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal. Orphanet ICD-10:Q68.8 MeSH:C566069 OMIM:187370 UMLS:C1861238 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251515 Distal arthrogryposis type 10 ORPHA:251515 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566069 E (Exact mapping: the two concepts are equivalent) OMIM:187370 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1861238 E (Exact mapping: the two concepts are equivalent) Hz/Hc PAMI syndrome PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. Orphanet ICD-10:E83.2 MeSH:C565988 OMIM:194470 UMLS:C4760957 Unknown Childhood Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251523 Hyperzincemia and hypercalprotectinemia ORPHA:251523 ICD-10:E83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565988 E (Exact mapping: the two concepts are equivalent) OMIM:194470 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4760957 E (Exact mapping: the two concepts are equivalent) ICD-11:LD2F.0 UMLS:C5680710 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251529 Toxic or drug-related embryofetopathy Category ORPHA:251529 ICD-11:LD2F.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680710 E (Exact mapping: the two concepts are equivalent) UMLS:C5680708 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251535 Maternal disease-related embryofetopathy Category ORPHA:251535 UMLS:C5680708 E (Exact mapping: the two concepts are equivalent) UMLS:C5680709 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251558 Rare tumor of neuroepithelial tissue Category ORPHA:251558 UMLS:C5680709 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251561 High-grade astrocytoma Clinical group ORPHA:251561 ICD-10:C71.9 ICD-11:2A00.00 ICD-11:XH9RC8 MeSH:D018316 MedDRA:10018340 UMLS:C0206726 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251576 Gliosarcoma Histopathological subtype ORPHA:251576 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH9RC8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018316 E (Exact mapping: the two concepts are equivalent) MedDRA:10018340 E (Exact mapping: the two concepts are equivalent) UMLS:C0206726 E (Exact mapping: the two concepts are equivalent) ICD-10:C71.9 ICD-11:2A00.00 ICD-11:XH8UC5 UMLS:C0334588 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251579 Giant cell glioblastoma Histopathological subtype ORPHA:251579 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH8UC5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0334588 E (Exact mapping: the two concepts are equivalent) A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor. Orphanet ICD-10:C71.0 ICD-11:2A00.0Y ICD-11:XH6ZH4 MedDRA:10066254 UMLS:C0334576 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251582 Gliomatosis cerebri ORPHA:251582 ICD-10:C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6ZH4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066254 E (Exact mapping: the two concepts are equivalent) UMLS:C0334576 E (Exact mapping: the two concepts are equivalent) A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH39Z7 ICD-11:XH7HQ6 ICD-11:XH96C7 MedDRA:10002224 UMLS:C0334579 Not applicable Adult United States AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251589 Anaplastic astrocytoma ORPHA:251589 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH39Z7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH7HQ6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH96C7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002224 E (Exact mapping: the two concepts are equivalent) UMLS:C0334579 E (Exact mapping: the two concepts are equivalent) MedDRA:10065869 UMLS:C1314694 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251592 Low-grade astrocytoma Clinical group ORPHA:251592 MedDRA:10065869 E (Exact mapping: the two concepts are equivalent) UMLS:C1314694 E (Exact mapping: the two concepts are equivalent) A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH2C49 ICD-11:XH2HK4 ICD-11:XH6UY7 ICD-11:XH8W32 UMLS:C0280785 Adolescent Adult Childhood United States AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251595 Diffuse astrocytoma ORPHA:251595 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH2C49 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH2HK4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH6UY7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH8W32 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0280785 E (Exact mapping: the two concepts are equivalent) ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH6UV4 UMLS:C0334580 Not applicable Childhood Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251598 Protoplasmic astrocytoma Histopathological subtype ORPHA:251598 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6UV4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0334580 E (Exact mapping: the two concepts are equivalent) Ellis-Yale-Winter syndrome Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Orphanet ICD-10:Q87.8 MeSH:C536205 OMIM:601355 UMLS:C2931129 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2516 Microcephaly-cardiac defect-lung malsegmentation syndrome ORPHA:2516 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536205 E (Exact mapping: the two concepts are equivalent) OMIM:601355 E (Exact mapping: the two concepts are equivalent) UMLS:C2931129 E (Exact mapping: the two concepts are equivalent) ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH6C35 MedDRA:10065889 UMLS:C0334582 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251601 Fibrillary astrocytoma Histopathological subtype ORPHA:251601 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6C35 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10065889 E (Exact mapping: the two concepts are equivalent) UMLS:C0334582 E (Exact mapping: the two concepts are equivalent) ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH5Y81 UMLS:C0334581 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251604 Gemistocytic astrocytoma Histopathological subtype ORPHA:251604 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH5Y81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0334581 E (Exact mapping: the two concepts are equivalent) PXA A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH99U2 UMLS:C0334586 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251607 Pleomorphic xanthoastrocytoma ORPHA:251607 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH99U2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0334586 E (Exact mapping: the two concepts are equivalent) Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH12D2 UMLS:C0334583 Not applicable All ages United States AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251612 Pilocytic astrocytoma ORPHA:251612 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH12D2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0334583 E (Exact mapping: the two concepts are equivalent) ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH29Q5 UMLS:C1519086 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251615 Pilomyxoid astrocytoma Histopathological subtype ORPHA:251615 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH29Q5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1519086 E (Exact mapping: the two concepts are equivalent) SEGA A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure. Orphanet ICD-10:D43.2 ICD-11:2A00.0Y ICD-11:XH1L48 UMLS:C0205768 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251618 Subependymal giant cell astrocytoma ORPHA:251618 ICD-10:D43.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1L48 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0205768 E (Exact mapping: the two concepts are equivalent) A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y UMLS:C2986550 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251623 Pituicytoma ORPHA:251623 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2986550 E (Exact mapping: the two concepts are equivalent) A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH7K31 ICD-11:XH7W59 MeSH:D009837 MedDRA:10030286 OMIM:137800 UMLS:C0028945 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251627 Oligodendroglioma ORPHA:251627 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH7K31 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH7W59 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009837 E (Exact mapping: the two concepts are equivalent) MedDRA:10030286 E (Exact mapping: the two concepts are equivalent) OMIM:137800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0028945 E (Exact mapping: the two concepts are equivalent) A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH8844 ICD-11:XH9QF3 MedDRA:10026659 OMIM:137800 UMLS:C0334590 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251630 Anaplastic oligodendroglioma ORPHA:251630 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH8844 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH9QF3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10026659 E (Exact mapping: the two concepts are equivalent) OMIM:137800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0334590 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Ependymal tumor OBSOLETE: Low-grade ependymoma ORPHA:251633 Classic ependymoma Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases. Orphanet ICD-10:D43.2 MeSH:D004806 MedDRA:10014967 UMLS:C0014474 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251636 Ependymoma ORPHA:251636 ICD-10:D43.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D004806 E (Exact mapping: the two concepts are equivalent) MedDRA:10014967 E (Exact mapping: the two concepts are equivalent) UMLS:C0014474 E (Exact mapping: the two concepts are equivalent) Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma. Orphanet ICD-10:D43.2 ICD-11:2A00.0Y ICD-11:2A00.5 ICD-11:XH8FZ9 MeSH:D018315 UMLS:C0206725 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251639 Subependymoma ORPHA:251639 ICD-10:D43.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH8FZ9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018315 E (Exact mapping: the two concepts are equivalent) UMLS:C0206725 E (Exact mapping: the two concepts are equivalent) Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population. Orphanet ICD-10:D43.2 ICD-11:2A00.0Y ICD-11:2A00.5 ICD-11:XH15U1 UMLS:C0205769 Not applicable Adolescent All ages Childhood Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251643 Myxopapillary ependymoma ORPHA:251643 ICD-10:D43.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH15U1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0205769 E (Exact mapping: the two concepts are equivalent) A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH6922 MedDRA:10014968 UMLS:C0280788 Not applicable Adolescent Adult Childhood United States AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251646 Anaplastic ependymoma ORPHA:251646 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6922 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10014968 E (Exact mapping: the two concepts are equivalent) UMLS:C0280788 E (Exact mapping: the two concepts are equivalent) Mixed oligodendroglial and astrocytic tumor UMLS:C0280793 Europe AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.19 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251651 Oligoastrocytic tumor Clinical group ORPHA:251651 UMLS:C0280793 E (Exact mapping: the two concepts are equivalent) MOA Mixed oligoastrocytoma Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y MedDRA:10027744 UMLS:C0547065 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251656 Oligoastrocytoma ORPHA:251656 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10027744 E (Exact mapping: the two concepts are equivalent) UMLS:C0547065 E (Exact mapping: the two concepts are equivalent) aMOA A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y ICD-11:XH6F49 UMLS:C0431108 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251663 Anaplastic oligoastrocytoma ORPHA:251663 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6F49 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0431108 E (Exact mapping: the two concepts are equivalent) UMLS:C5680698 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251668 Glial tumor of neuroepithelial tissue with unknown origin Clinical group ORPHA:251668 UMLS:C5680698 E (Exact mapping: the two concepts are equivalent) An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. Orphanet ICD-10:C71.9 ICD-11:2A00.0Y MedDRA:10073129 UMLS:C2363903 All ages Worldwide AND has_cases/families_value : 52.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251671 Angiocentric glioma ORPHA:251671 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073129 E (Exact mapping: the two concepts are equivalent) UMLS:C2363903 E (Exact mapping: the two concepts are equivalent) Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity. Orphanet ICD-10:C71.9 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251674 Chordoid glioma ORPHA:251674 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches. Orphanet ICD-10:C71.9 ICD-11:2A00.4 MedDRA:10079366 UMLS:C0334587 Not applicable Adolescent Adult Childhood Infancy Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251679 Astroblastoma ORPHA:251679 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10079366 E (Exact mapping: the two concepts are equivalent) UMLS:C0334587 E (Exact mapping: the two concepts are equivalent) 1q23.3 LNIR PRR4 nectin-4 ClinVar:PVRL4 Ensembl:ENSG00000143217 Genatlas:PVRL4 HGNC:19688 IUPHAR:3112 OMIM:609607 Reactome:Q96NY8 SwissProt:Q96NY8 NECTIN4 nectin cell adhesion molecule 4 8p23.1 DCDC4B doublecortin domain containing 4B ClinVar:RP1L1 Ensembl:ENSG00000183638 Genatlas:RP1L1 HGNC:15946 OMIM:608581 SwissProt:Q8IWN7 RP1L1 RP1 like 1 Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. Orphanet ICD-10:Q87.8 ICD-11:9B61 OMIM:251270 OMIM:616335 UMLS:C4749272 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2518 Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:251270 E (Exact mapping: the two concepts are equivalent) OMIM:616335 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749272 E (Exact mapping: the two concepts are equivalent) UMLS:C5680699 Europe AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251852 Embryonal tumor of neuroepithelial tissue Category ORPHA:251852 UMLS:C5680699 E (Exact mapping: the two concepts are equivalent) A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia. Orphanet ICD-10:C71.6 ICD-11:2A00.10 UMLS:C4330531 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251855 Anaplastic/large cell medulloblastoma Histopathological subtype ORPHA:251855 ICD-10:C71.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4330531 E (Exact mapping: the two concepts are equivalent) MBEN Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis. Orphanet ICD-10:C71.6 ICD-11:2A00.10 ICD-11:XH6JN6 OMIM:155255 UMLS:C1334970 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251858 Medulloblastoma with extensive nodularity Histopathological subtype ORPHA:251858 ICD-10:C71.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6JN6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:155255 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1334970 E (Exact mapping: the two concepts are equivalent) Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. Orphanet ICD-10:C71.6 ICD-11:2A00.10 ICD-11:XH7PN5 OMIM:155255 UMLS:C0751291 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251863 Desmoplastic/nodular medulloblastoma Histopathological subtype ORPHA:251863 ICD-10:C71.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH7PN5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:155255 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751291 E (Exact mapping: the two concepts are equivalent) Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia. Orphanet ICD-10:C71.6 ICD-11:2A00.10 ICD-11:XH0RY1 ICD-11:XH3EX1 OMIM:155255 UMLS:C1707400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251867 Classic medulloblastoma Histopathological subtype ORPHA:251867 ICD-10:C71.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH0RY1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH3EX1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:155255 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1707400 E (Exact mapping: the two concepts are equivalent) CNS PNET Central nervous system primitive neuroectodermal tumor MedDRA:10057846 UMLS:C1333378 Not applicable Childhood Europe AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251870 Central nervous system embryonal tumor Clinical group ORPHA:251870 MedDRA:10057846 E (Exact mapping: the two concepts are equivalent) UMLS:C1333378 E (Exact mapping: the two concepts are equivalent) Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor. Orphanet ICD-10:C71.9 ICD-11:2A00.11 MeSH:D018305 MedDRA:10017708 UMLS:C0206718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251877 Ganglioneuroblastoma ORPHA:251877 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D018305 E (Exact mapping: the two concepts are equivalent) MedDRA:10017708 E (Exact mapping: the two concepts are equivalent) UMLS:C0206718 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Embryonal tumor with multilayered rosettes MedDRA:10014966 UMLS:C0700367 Ependymoblastoma ORPHA:251880 MedDRA:10014966 E (Exact mapping: the two concepts are equivalent) UMLS:C0700367 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Embryonal tumor with multilayered rosettes UMLS:C5231013 Medulloepithelioma of the central nervous system ORPHA:251883 UMLS:C5231013 E (Exact mapping: the two concepts are equivalent) OBSOLETE: AT/RT This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical teratoid rhabdoid tumor OBSOLETE: Atypical teratoid/rhabdoid tumor ORPHA:251891 ICD-11:2A00.22 MeSH:D016545 UMLS:C0085138 United States AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251896 Choroid plexus tumor Clinical group ORPHA:251896 ICD-11:2A00.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016545 E (Exact mapping: the two concepts are equivalent) UMLS:C0085138 E (Exact mapping: the two concepts are equivalent) Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference. Orphanet ICD-10:C71.7 ICD-11:2A00.22 ICD-11:XH3M77 MeSH:C562943 MedDRA:10067478 OMIM:260500 UMLS:C0431109 Autosomal dominant Childhood Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.35 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251899 Choroid plexus carcinoma ORPHA:251899 ICD-10:C71.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH3M77 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562943 E (Exact mapping: the two concepts are equivalent) MedDRA:10067478 E (Exact mapping: the two concepts are equivalent) OMIM:260500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0431109 E (Exact mapping: the two concepts are equivalent) A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:Q87.8 MeSH:C537544 UMLS:C4509817 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2519 Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537544 E (Exact mapping: the two concepts are equivalent) UMLS:C4509817 E (Exact mapping: the two concepts are equivalent) Atypical CPP Atypical choroid plexus papilloma A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis. Orphanet ICD-10:D33.1 ICD-11:2A00.22 UMLS:C1266176 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251902 Atypical papilloma of choroid plexus ORPHA:251902 ICD-10:D33.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1266176 E (Exact mapping: the two concepts are equivalent) UMLS:C5680702 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251905 Pineal tumor of neuroepithelial tissue Clinical group ORPHA:251905 UMLS:C5680702 E (Exact mapping: the two concepts are equivalent) Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis. Orphanet ICD-10:C75.3 ICD-11:2A00.20 ICD-11:XH1ZH1 MedDRA:10050487 UMLS:C0205898 Not applicable Adolescent Adult Childhood Infancy Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251909 Pineoblastoma ORPHA:251909 ICD-10:C75.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1ZH1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10050487 E (Exact mapping: the two concepts are equivalent) UMLS:C0205898 E (Exact mapping: the two concepts are equivalent) Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. Orphanet ICD-10:D44.5 ICD-11:2A00.20 ICD-11:XH1K94 MedDRA:10035059 UMLS:C0917890 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251912 Pineocytoma ORPHA:251912 ICD-10:D44.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1K94 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10035059 E (Exact mapping: the two concepts are equivalent) UMLS:C0917890 E (Exact mapping: the two concepts are equivalent) PTPR Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus. Orphanet ICD-10:D44.5 ICD-11:2A00.20 ICD-11:XH3904 UMLS:C2985219 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251915 Papillary tumor of the pineal region ORPHA:251915 ICD-10:D44.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH3904 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2985219 E (Exact mapping: the two concepts are equivalent) A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. Orphanet ICD-10:D44.5 ICD-11:2A00.20 ICD-11:XH1S48 UMLS:C1367859 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251919 Pineal parenchymal tumor of intermediate differentiation ORPHA:251919 ICD-10:D44.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1S48 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1367859 E (Exact mapping: the two concepts are equivalent) UMLS:C5680700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251924 Neuronal tumor Clinical group ORPHA:251924 UMLS:C5680700 E (Exact mapping: the two concepts are equivalent) EVN Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. Orphanet ICD-10:C72.9 UMLS:C2985175 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251927 Extraventricular neurocytoma ORPHA:251927 ICD-10:C72.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2985175 E (Exact mapping: the two concepts are equivalent) Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. Orphanet ICD-10:D33.1 UMLS:C1370507 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251931 Cerebellar liponeurocytoma ORPHA:251931 ICD-10:D33.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1370507 E (Exact mapping: the two concepts are equivalent) ICD-11:2A00.21 UMLS:C5680701 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251934 Mixed neuronal-glial tumor Clinical group ORPHA:251934 ICD-11:2A00.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680701 E (Exact mapping: the two concepts are equivalent) A rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported. Orphanet ICD-10:D36.1 ICD-11:2A00.21 ICD-11:XH6KA6 UMLS:C5779630 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251937 Gangliocytoma ORPHA:251937 ICD-10:D36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6KA6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5779630 E (Exact mapping: the two concepts are equivalent) DIA/DIG Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures. Orphanet ICD-10:D33.0 ICD-11:2A00.21 UMLS:C4757951 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251940 Desmoplastic infantile astrocytoma/ganglioglioma ORPHA:251940 ICD-10:D33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4757951 E (Exact mapping: the two concepts are equivalent) DNET A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix. Orphanet ICD-10:D33.0 ICD-11:2A00.21 ICD-11:XH0H76 UMLS:C1266177 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251946 Dysembryoplastic neuroepithelial tumor ORPHA:251946 ICD-10:D33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH0H76 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1266177 E (Exact mapping: the two concepts are equivalent) Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported. Orphanet ICD-10:D33.0 ICD-11:2A00.21 MeSH:D018303 MedDRA:10017701 UMLS:C0206716 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251949 Ganglioglioma ORPHA:251949 ICD-10:D33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018303 E (Exact mapping: the two concepts are equivalent) MedDRA:10017701 E (Exact mapping: the two concepts are equivalent) UMLS:C0206716 E (Exact mapping: the two concepts are equivalent) A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures. Orphanet ICD-10:D43.0 ICD-11:2A00.21 ICD-11:XH2GG3 UMLS:C0431112 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251957 Anaplastic ganglioglioma ORPHA:251957 ICD-10:D43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH2GG3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0431112 E (Exact mapping: the two concepts are equivalent) PGNT Pseudopapillary ganglioglioneurocytoma Pseudopapillary neurocytoma with glial differentiation A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection. Orphanet ICD-10:D33.0 ICD-11:2A00.21 ICD-11:XH3XU4 UMLS:C2985174 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251962 Papillary glioneuronal tumor ORPHA:251962 ICD-10:D33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH3XU4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2985174 E (Exact mapping: the two concepts are equivalent) RGNT Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum. Orphanet ICD-10:D33.1 ICD-11:2A00.21 ICD-11:XH2JU8 UMLS:C4331262 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251975 Rosette-forming glioneuronal tumor ORPHA:251975 ICD-10:D33.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH2JU8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4331262 E (Exact mapping: the two concepts are equivalent) Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported. Orphanet ICD-10:D36.1 ICD-11:2A00.21 ICD-11:XH03L9 MeSH:D005729 MedDRA:10017709 UMLS:C0017075 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251992 Ganglioneuroma ORPHA:251992 ICD-10:D36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH03L9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005729 E (Exact mapping: the two concepts are equivalent) MedDRA:10017709 E (Exact mapping: the two concepts are equivalent) UMLS:C0017075 E (Exact mapping: the two concepts are equivalent) Primary germ cell tumor of CNS UMLS:C5679625 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251995 Primary germ cell tumor of central nervous system Category ORPHA:251995 UMLS:C5679625 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia OBSOLETE: Spondyloepimetaphyseal dysplasia ORPHA:252 Endodermal sinus tumor of CNS Endodermal sinus tumor of central nervous system Intracranial endodermal sinus tumor Intracranial yolk sac tumor Yolk sac tumor of CNS ICD-10:C72.9 ICD-11:2A00.1Y UMLS:C1337040 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252006 Yolk sac tumor of central nervous system Clinical subtype ORPHA:252006 ICD-10:C72.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1337040 E (Exact mapping: the two concepts are equivalent) A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor. Orphanet ICD-10:C71.2 ICD-11:2A00.1Y UMLS:C1332876 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252015 Choriocarcinoma of the central nervous system ORPHA:252015 ICD-10:C71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1332876 E (Exact mapping: the two concepts are equivalent) ICD-10:D48.7 UMLS:C1332895 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252018 Teratoma of the central nervous system Clinical subtype ORPHA:252018 ICD-10:D48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1332895 E (Exact mapping: the two concepts are equivalent) Mixed germ cell tumor of CNS ICD-10:C72.9 ICD-11:2A00.1Y UMLS:C1334785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252021 Mixed germ cell tumor of central nervous system Clinical subtype ORPHA:252021 ICD-10:C72.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1334785 E (Exact mapping: the two concepts are equivalent) MeSH:D008577 MedDRA:10061282 UMLS:C0025284 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252025 Tumor of meninges Category ORPHA:252025 MeSH:D008577 E (Exact mapping: the two concepts are equivalent) MedDRA:10061282 E (Exact mapping: the two concepts are equivalent) UMLS:C0025284 E (Exact mapping: the two concepts are equivalent) Primary melanocytic lesion of CNS Primary melanocytic lesion of central nervous system Primary melanocytic tumor of CNS UMLS:C5679637 United States AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252028 Primary melanocytic tumor of central nervous system Category ORPHA:252028 UMLS:C5679637 E (Exact mapping: the two concepts are equivalent) DLM Leptomeningeal melanomatosis Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. Orphanet ICD-10:C70.9 UMLS:C4749348 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252031 Diffuse leptomeningeal melanocytosis ORPHA:252031 ICD-10:C70.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749348 E (Exact mapping: the two concepts are equivalent) A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection. Orphanet ICD-10:D32.9 UMLS:C1266113 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252046 Meningeal melanocytoma ORPHA:252046 ICD-10:D32.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1266113 E (Exact mapping: the two concepts are equivalent) Malignant melanoma of meninges Primary melanoma of the CNS Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence. Orphanet ICD-10:C70.9 ICD-11:2A0Z https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252050 Primary melanoma of the central nervous system ORPHA:252050 ICD-10:C70.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A0Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. Orphanet ICD-10:D33.4 ICD-10:D33.7 MeSH:D018325 MedDRA:10018813 UMLS:C0206734 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252054 Hemangioblastoma ORPHA:252054 ICD-10:D33.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D33.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D018325 E (Exact mapping: the two concepts are equivalent) MedDRA:10018813 E (Exact mapping: the two concepts are equivalent) UMLS:C0206734 E (Exact mapping: the two concepts are equivalent) Rare tumor of cranial and spinal nerves UMLS:C5679636 United States AND has_annual_incidence_average_value : 1.89 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252057 Tumor of cranial and spinal nerves Category ORPHA:252057 UMLS:C5679636 E (Exact mapping: the two concepts are equivalent) Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q87.8 UMLS:C2930954 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2930954 E (Exact mapping: the two concepts are equivalent) 3q27.3 C4/C2 activating component of Ra-reactive factor MAP-1 MASP MASP-3 Map44 mannose-binding lectin-associated serine protease 1 ClinVar:MASP1 Ensembl:ENSG00000127241 Genatlas:MASP1 HGNC:6901 OMIM:600521 Reactome:P48740 SwissProt:P48740 MASP1 MBL associated serine protease 1 Malignant perineurioma Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported. Orphanet ICD-10:C47.9 ICD-11:2C41 UMLS:C1266188 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252128 Malignant peripheral nerve sheath tumor with perineurial differentiation Histopathological subtype ORPHA:252128 ICD-10:C47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1266188 E (Exact mapping: the two concepts are equivalent) BPNST UMLS:C5577926 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252131 Benign peripheral nerve sheath tumor Category ORPHA:252131 UMLS:C5577926 E (Exact mapping: the two concepts are equivalent) Neurilemmoma Neurilemoma Peripheral fibroblastoma A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation. Orphanet ICD-10:D36.1 ICD-11:2F3Y MeSH:D009442 MedDRA:10029235 UMLS:C0027809 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252164 Benign schwannoma ORPHA:252164 ICD-10:D36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009442 E (Exact mapping: the two concepts are equivalent) MedDRA:10029235 E (Exact mapping: the two concepts are equivalent) UMLS:C0027809 E (Exact mapping: the two concepts are equivalent) Acoustic neurilemoma Acoustic neurinoma Acoustic neuroma Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness. Orphanet ICD-10:D33.3 ICD-11:2A02.3 MeSH:D009464 MedDRA:10000523 UMLS:C0027859 Denmark AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252175 Vestibular schwannoma Clinical subtype ORPHA:252175 ICD-10:D33.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A02.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009464 E (Exact mapping: the two concepts are equivalent) MedDRA:10000523 E (Exact mapping: the two concepts are equivalent) UMLS:C0027859 E (Exact mapping: the two concepts are equivalent) A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves. Orphanet ICD-10:D36.1 ICD-11:2F3Y MeSH:D009455 MedDRA:10029267 UMLS:C0027830 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252183 Neurofibroma ORPHA:252183 ICD-10:D36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009455 E (Exact mapping: the two concepts are equivalent) MedDRA:10029267 E (Exact mapping: the two concepts are equivalent) UMLS:C0027830 E (Exact mapping: the two concepts are equivalent) UMLS:C5680719 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252190 Inherited nervous system cancer-predisposing syndrome Category ORPHA:252190 UMLS:C5680719 E (Exact mapping: the two concepts are equivalent) Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. Orphanet ICD-10:Q87.8 ICD-11:LD20.2 MeSH:C537325 OMIM:251250 UMLS:C0796066 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2522 Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537325 E (Exact mapping: the two concepts are equivalent) OMIM:251250 E (Exact mapping: the two concepts are equivalent) UMLS:C0796066 E (Exact mapping: the two concepts are equivalent) CMMR-D syndrome Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development. Orphanet ICD-10:D80.8 OMIM:276300 OMIM:619096 OMIM:619097 OMIM:619101 UMLS:C4321324 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252202 Constitutional mismatch repair deficiency syndrome ORPHA:252202 ICD-10:D80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:276300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619096 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619097 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619101 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4321324 E (Exact mapping: the two concepts are equivalent) Melanoma-astrocytoma syndrome Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term). Orphanet ICD-10:D43 MeSH:C536149 OMIM:155755 UMLS:C1835042 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252206 Melanoma and neural system tumor syndrome ORPHA:252206 ICD-10:D43 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536149 E (Exact mapping: the two concepts are equivalent) OMIM:155755 E (Exact mapping: the two concepts are equivalent) UMLS:C1835042 E (Exact mapping: the two concepts are equivalent) MPNST with rhabdomyosarcomatous differentiation MTT Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation. Orphanet ICD-10:C47.9 ICD-11:XH2VV8 UMLS:C0334616 All ages Worldwide AND has_cases/families_value : 170.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=252212 Malignant triton tumor Histopathological subtype ORPHA:252212 ICD-10:C47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:XH2VV8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0334616 E (Exact mapping: the two concepts are equivalent) Franek-Bocker-Kahlen syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:G98 ICD-11:LD20.2 UMLS:C4749368 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523 ICD-10:G98 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749368 E (Exact mapping: the two concepts are equivalent) PCH2 A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 MeSH:C548070 OMIM:277470 OMIM:612389 OMIM:612390 OMIM:613811 OMIM:617026 UMLS:C2932714 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 81.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2524 Pontocerebellar hypoplasia type 2 ORPHA:2524 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548070 E (Exact mapping: the two concepts are equivalent) OMIM:277470 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612389 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612390 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613811 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617026 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2932714 E (Exact mapping: the two concepts are equivalent) 5q31.3 B8 complex I B8 subunit ClinVar:NDUFA2 Ensembl:ENSG00000131495 Genatlas:NDUFA2 HGNC:7685 OMIM:602137 Reactome:O43678 SwissProt:O43678 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 10p12.1 COQ1 COQ1A TPT coenzyme Q1 homolog (yeast) ClinVar:PDSS1 Ensembl:ENSG00000148459 Genatlas:PDSS1 HGNC:17759 OMIM:607429 Reactome:Q5T2R2 SwissProt:Q5T2R2 PDSS1 decaprenyl diphosphate synthase subunit 1 MLCRD Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:BD93.0 MeSH:C537711 OMIM:152950 UMLS:C1835265 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 50.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2526 Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537711 E (Exact mapping: the two concepts are equivalent) OMIM:152950 E (Exact mapping: the two concepts are equivalent) UMLS:C1835265 E (Exact mapping: the two concepts are equivalent) Seemanova-Lesny syndrome Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. Orphanet ICD-10:Q87.8 ICD-11:LD20.2 MeSH:C537536 UMLS:C2931524 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2528 Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537536 E (Exact mapping: the two concepts are equivalent) UMLS:C2931524 E (Exact mapping: the two concepts are equivalent) SED and SEMD ICD-10:Q77.7 ICD-11:LD24.3 UMLS:C5679593 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Clinical group ORPHA:253 ICD-10:Q77.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679593 E (Exact mapping: the two concepts are equivalent) Kawashima-Tsuji syndrome Microcephaly-hearing loss-intellectual disability syndrome Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C537326 OMIM:156620 UMLS:C0796062 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2533 Microcephaly-deafness-intellectual disability syndrome ORPHA:2533 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537326 E (Exact mapping: the two concepts are equivalent) OMIM:156620 E (Exact mapping: the two concepts are equivalent) UMLS:C0796062 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare disorder of the pupil OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome ORPHA:2535 A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q15.8 MeSH:C537552 OMIM:156700 UMLS:C4274800 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2536 Microcornea-glaucoma-absent frontal sinuses syndrome ORPHA:2536 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537552 E (Exact mapping: the two concepts are equivalent) OMIM:156700 E (Exact mapping: the two concepts are equivalent) UMLS:C4274800 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537554 OMIM:156810 UMLS:C4303067 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2538 Microgastria-limb reduction defect syndrome ORPHA:2538 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537554 E (Exact mapping: the two concepts are equivalent) OMIM:156810 E (Exact mapping: the two concepts are equivalent) UMLS:C4303067 E (Exact mapping: the two concepts are equivalent) Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Orphanet ICD-11:LD24.4 UMLS:C4759767 Autosomal dominant Autosomal recessive X-linked recessive Infancy Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254 Spondylometaphyseal dysplasia Clinical group ORPHA:254 ICD-11:LD24.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4759767 E (Exact mapping: the two concepts are equivalent) Isolated anophthalmia-microphthalmia syndrome A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies. Orphanet OMIM:156850 OMIM:251600 OMIM:610093 OMIM:611038 OMIM:613094 OMIM:613517 OMIM:613704 OMIM:615113 UMLS:C5679828 Autosomal dominant Autosomal recessive X-linked recessive Antenatal Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 2.18 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 3.33 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2542 Isolated microphthalmia-anophthalmia-coloboma Clinical group ORPHA:2542 OMIM:156850 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:251600 E (Exact mapping: the two concepts are equivalent) OMIM:610093 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611038 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613094 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613517 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613704 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615113 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679828 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Congenital cataract-microphthalmia syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated microphthalmia-anophthalmia-coloboma OBSOLETE: Microphthalmia-cataract syndrome ORPHA:2543 RI-CMT type B A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. Orphanet ICD-10:G60.0 ICD-11:8C20.2 OMIM:613641 UMLS:C4750786 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B ORPHA:254334 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613641 E (Exact mapping: the two concepts are equivalent) UMLS:C4750786 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spastic ataxia type 4 SPAX4 A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Orphanet ICD-10:E88.8 OMIM:613672 UMLS:C3150925 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome ORPHA:254343 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613672 E (Exact mapping: the two concepts are equivalent) UMLS:C3150925 E (Exact mapping: the two concepts are equivalent) Del(19)(p13.12) Monosomy 19p13.12 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.K1 UMLS:C4304579 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254346 19p13.12 microdeletion syndrome ORPHA:254346 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.K1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304579 E (Exact mapping: the two concepts are equivalent) Distal del(7)(q11.23) Distal monosomy 7q11.23 Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). Orphanet ICD-10:Q93.5 ICD-11:LD44.70 OMIM:613729 UMLS:C4749584 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 41.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254351 Distal 7q11.23 microdeletion syndrome ORPHA:254351 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613729 E (Exact mapping: the two concepts are equivalent) UMLS:C4749584 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2Q LGMD type 2Q LGMD2Q Limb-girdle muscular dystrophy type 2Q Plectin-related LGMD R17 A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. Orphanet ICD-10:G71.0 OMIM:613723 UMLS:C3150989 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254361 Plectin-related limb-girdle muscular dystrophy R17 ORPHA:254361 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613723 E (Exact mapping: the two concepts are equivalent) UMLS:C3150989 E (Exact mapping: the two concepts are equivalent) Rare LP Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms). Orphanet UMLS:C5679638 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254367 Rare lichen planus Category ORPHA:254367 UMLS:C5679638 E (Exact mapping: the two concepts are equivalent) Rare cutaneous LP UMLS:C5679641 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254370 Rare cutaneous lichen planus Category ORPHA:254370 UMLS:C5679641 E (Exact mapping: the two concepts are equivalent) Rare mucosal LP UMLS:C5679642 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254373 Rare mucosal lichen planus Category ORPHA:254373 UMLS:C5679642 E (Exact mapping: the two concepts are equivalent) Blaschkoid LP Blaschkoid lichen planus Linear LP Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development. Orphanet ICD-10:L43.8 ICD-11:EA91.Y UMLS:C0023650 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254379 Linear lichen planus ORPHA:254379 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0023650 E (Exact mapping: the two concepts are equivalent) Actinic LP Lichen planus actinus Lichen planus subtropicus Lichen planus tropicus Lichenoid melanodermatitis Summertime actinic lichenoid eruption A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions. Orphanet ICD-10:L43.8 ICD-11:EA91.Y UMLS:C0406365 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254395 Actinic lichen planus ORPHA:254395 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406365 E (Exact mapping: the two concepts are equivalent) Annular atrophic LP A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion. Orphanet ICD-10:L43.8 UMLS:C4304037 Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254411 Annular atrophic lichen planus ORPHA:254411 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304037 E (Exact mapping: the two concepts are equivalent) Annular LP A rare variant of cutaneous lichen planus characterized by the development of annular lesions. Orphanet ICD-10:L43.8 ICD-11:EA91.Y UMLS:C0406363 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254424 Annular lichen planus ORPHA:254424 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406363 E (Exact mapping: the two concepts are equivalent) Atrophic LP A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center. Orphanet ICD-10:L43.8 ICD-11:EA91.Y MedDRA:10056959 UMLS:C0023647 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254449 Atrophic lichen planus ORPHA:254449 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10056959 E (Exact mapping: the two concepts are equivalent) UMLS:C0023647 E (Exact mapping: the two concepts are equivalent) LP pigmentosa LP pigmentosus Lichen planus pigmentosa Lichen planus pigmentosus inversus Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. Orphanet ICD-10:L43.8 ICD-11:EA91.Y UMLS:C0406366 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254463 Lichen planus pigmentosus ORPHA:254463 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406366 E (Exact mapping: the two concepts are equivalent) LP pemphigoides Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms). Orphanet ICD-10:L43.8 ICD-11:EB41.Y MedDRA:10087934 UMLS:C0406369 All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254478 Lichen planus pemphigoides ORPHA:254478 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087934 E (Exact mapping: the two concepts are equivalent) UMLS:C0406369 E (Exact mapping: the two concepts are equivalent) FFA Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp. Orphanet ICD-10:L66.1 ICD-11:EA91.2 UMLS:C4255374 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254492 Frontal fibrosing alopecia ORPHA:254492 ICD-10:L66.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4255374 E (Exact mapping: the two concepts are equivalent) Inhalation botulism Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). Orphanet ICD-10:A05.1 ICD-11:1A11.1 UMLS:C1443900 Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254504 Inhalational botulism Clinical subtype ORPHA:254504 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1443900 E (Exact mapping: the two concepts are equivalent) Inadvertent botulism Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use. Orphanet ICD-10:A05.1 ICD-11:1A11.1 All ages Worldwide AND has_cases/families_value : 180.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254509 Iatrogenic botulism Clinical subtype ORPHA:254509 ICD-10:A05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1A11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion). Orphanet ICD-10:Q87.8 MeSH:C000726750 OMIM:616222 UMLS:C4015558 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254516 Temple syndrome ORPHA:254516 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000726750 E (Exact mapping: the two concepts are equivalent) OMIM:616222 E (Exact mapping: the two concepts are equivalent) UMLS:C4015558 E (Exact mapping: the two concepts are equivalent) KOS Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. Orphanet ICD-10:Q87.8 OMIM:608149 UMLS:C5779872 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 84.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254519 Kagami-Ogata syndrome ORPHA:254519 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608149 E (Exact mapping: the two concepts are equivalent) UMLS:C5779872 E (Exact mapping: the two concepts are equivalent) Paternal del(14)(q32.2) ICD-10:Q93.5 ICD-11:LD44.E OMIM:616222 UMLS:C5679639 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254525 Temple syndrome due to paternal 14q32.2 microdeletion Etiological subtype ORPHA:254525 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616222 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679639 E (Exact mapping: the two concepts are equivalent) Maternal del(14)(q32.2) Maternal monosomy 14q32.2 ICD-10:Q93.5 ICD-11:LD44.E OMIM:608149 UMLS:C5679640 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Etiological subtype ORPHA:254528 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608149 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679640 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD2Y OMIM:616222 UMLS:C5680721 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254531 Temple syndrome due to paternal 14q32.2 hypomethylation Etiological subtype ORPHA:254531 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616222 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680721 E (Exact mapping: the two concepts are equivalent) ICD-10:Q99.8 ICD-11:LD2Y OMIM:608149 UMLS:C5680720 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Etiological subtype ORPHA:254534 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608149 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680720 E (Exact mapping: the two concepts are equivalent) MeSH:D031901 UMLS:C2931618 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254685 Gestational trophoblastic disease Category ORPHA:254685 MeSH:D031901 E (Exact mapping: the two concepts are equivalent) UMLS:C2931618 E (Exact mapping: the two concepts are equivalent) Complete molar pregnancy A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. Orphanet ICD-10:O01.0 ICD-11:JA02.0 OMIM:231090 OMIM:614293 OMIM:618431 OMIM:618432 UMLS:C0678213 Autosomal recessive Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254688 Complete hydatidiform mole Clinical subtype ORPHA:254688 ICD-10:O01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JA02.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:231090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614293 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618431 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618432 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0678213 E (Exact mapping: the two concepts are equivalent) Incomplete hydatidiform mole Incomplete molar pregnancy Partial molar pregnancy A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage. Orphanet ICD-10:O01.1 ICD-11:JA02.1 UMLS:C0334529 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254693 Partial hydatidiform mole Clinical subtype ORPHA:254693 ICD-10:O01.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JA02.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0334529 E (Exact mapping: the two concepts are equivalent) A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels. Orphanet ICD-10:C58 ICD-11:2C75.0 ICD-11:XH8FW3 UMLS:C1266159 Not applicable Adult Europe AND has_annual_incidence_range : Unknown Worldwide Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254698 Epithelioid trophoblastic tumor ORPHA:254698 ICD-10:C58 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH8FW3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1266159 E (Exact mapping: the two concepts are equivalent) Thomas-Jewett-Raines syndrome A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. Orphanet ICD-10:Q68.8 MeSH:C536513 UMLS:C2931224 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2547 Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536513 E (Exact mapping: the two concepts are equivalent) UMLS:C2931224 E (Exact mapping: the two concepts are equivalent) Benign hyperferritinemia Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. Orphanet ICD-10:R77.8 UMLS:C4707880 Autosomal dominant Autosomal recessive No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254704 Genetic hyperferritinemia without iron overload ORPHA:254704 ICD-10:R77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707880 E (Exact mapping: the two concepts are equivalent) FHC This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to H syndrome Faisalabad histiocytosis ORPHA:254707 Familial Rosaï-Dorfman disease Familial SHML This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to H syndrome Familial sinus histiocytosis with massive lymphadenopathy ORPHA:254712 PHID This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to H syndrome Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome ORPHA:254723 UMLS:C0268192 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254746 Pyruvate metabolism disorder Category ORPHA:254746 UMLS:C0268192 E (Exact mapping: the two concepts are equivalent) Citric acid cycle disorder Krebs cycle disorder TCA cycle disorder UMLS:C5679646 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254749 Tricarboxylic acid cycle disorder Category ORPHA:254749 UMLS:C5679646 E (Exact mapping: the two concepts are equivalent) Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to mtDNA anomalies UMLS:C5679644 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Category ORPHA:254758 UMLS:C5679644 E (Exact mapping: the two concepts are equivalent) Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a large-scale single deletion of mtDNA UMLS:C5679643 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Category ORPHA:254767 UMLS:C5679643 E (Exact mapping: the two concepts are equivalent) Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to a point mutation of mtDNA UMLS:C5679645 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Category ORPHA:254776 UMLS:C5679645 E (Exact mapping: the two concepts are equivalent) Maternally-inherited mitochondrial myopathy mtDNA-related mitochondrial myopathy A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers. Orphanet UMLS:C5569013 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254788 Mitochondrial DNA-related mitochondrial myopathy Clinical group ORPHA:254788 UMLS:C5569013 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA OBSOLETE: OXPHOS disease due to a duplication of mtDNA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA ORPHA:254793 mtDNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. Orphanet OMIM:612073 OMIM:612075 UMLS:C4707428 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form Clinical group ORPHA:254803 OMIM:612073 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612075 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707428 E (Exact mapping: the two concepts are equivalent) Multiple mtDNA deletion syndrome ICD-11:5C53.21 UMLS:C5679633 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254807 Multiple mitochondrial DNA deletion syndrome Category ORPHA:254807 ICD-11:5C53.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679633 E (Exact mapping: the two concepts are equivalent) MeSH:C579922 UMLS:C3683791 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254818 Ataxia neuropathy spectrum Clinical group ORPHA:254818 MeSH:C579922 E (Exact mapping: the two concepts are equivalent) UMLS:C3683791 E (Exact mapping: the two concepts are equivalent) OXPHOS disease with no known mechanism UMLS:C5679634 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism Category ORPHA:254822 UMLS:C5679634 E (Exact mapping: the two concepts are equivalent) ICD-11:5C53.3 UMLS:C5680718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254827 Mitochondrial membrane transport disorder Category ORPHA:254827 ICD-11:5C53.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680718 E (Exact mapping: the two concepts are equivalent) ICD-11:5C53.30 UMLS:C5680716 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254830 Mitochondrial substrate carrier disorder Category ORPHA:254830 ICD-11:5C53.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680716 E (Exact mapping: the two concepts are equivalent) ICD-11:5C53.31 UMLS:C5680717 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254834 Mitochondrial protein import disorder Category ORPHA:254834 ICD-11:5C53.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680717 E (Exact mapping: the two concepts are equivalent) UMLS:C5680715 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254837 Unspecified mitochondrial disorder Clinical group ORPHA:254837 UMLS:C5680715 E (Exact mapping: the two concepts are equivalent) UMLS:C5680714 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254843 Exercise intolerance with lactic acidosis Clinical group ORPHA:254843 UMLS:C5680714 E (Exact mapping: the two concepts are equivalent) Isolated respiratory chain complex disorder UMLS:C5679632 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254846 Isolated oxidative phosphorylation complex disorder Category ORPHA:254846 UMLS:C5679632 E (Exact mapping: the two concepts are equivalent) Maternally-inherited mitochondrial dystonia mtDNA-related dystonia Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. Orphanet ICD-10:E88.8 ICD-11:8C73.Y UMLS:C4274074 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254851 Mitochondrial DNA-related dystonia ORPHA:254851 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274074 E (Exact mapping: the two concepts are equivalent) Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. Orphanet ICD-10:G71.3 ICD-11:8C73.Y UMLS:C4517289 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254854 Pure mitochondrial myopathy ORPHA:254854 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4517289 E (Exact mapping: the two concepts are equivalent) LIMD LIMM Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. Orphanet ICD-10:G71.3 ICD-11:8C73.Y MeSH:C564017 OMIM:551000 UMLS:C1838876 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254857 Lethal infantile mitochondrial myopathy ORPHA:254857 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564017 E (Exact mapping: the two concepts are equivalent) OMIM:551000 E (Exact mapping: the two concepts are equivalent) UMLS:C1838876 E (Exact mapping: the two concepts are equivalent) Benign COX deficiency Infantile reversible cytochrome C oxidase deficiency myopathy Mitochondrial myopathy with reversible COX deficiency Mitochondrial myopathy with reversible complex IV deficiency Reversible infantile cytochrome C oxidase deficiency Reversible infantile respiratory chain deficiency A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity. Orphanet ICD-10:G71.3 ICD-11:8C73.Y OMIM:500009 UMLS:C5191317 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency ORPHA:254864 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:500009 E (Exact mapping: the two concepts are equivalent) UMLS:C5191317 E (Exact mapping: the two concepts are equivalent) Deoxyguanosine kinase deficiency mtDNA depletion syndrome, hepatocerebral form MeSH:C580039 UMLS:C3711385 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254871 Mitochondrial DNA depletion syndrome, hepatocerebral form Clinical group ORPHA:254871 MeSH:C580039 E (Exact mapping: the two concepts are equivalent) UMLS:C3711385 E (Exact mapping: the two concepts are equivalent) mtDNA depletion syndrome, myopathic form A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood. Orphanet ICD-10:G71.3 ICD-11:5C53.20 MeSH:C563698 OMIM:609560 UMLS:C3501891 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254875 Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563698 E (Exact mapping: the two concepts are equivalent) OMIM:609560 E (Exact mapping: the two concepts are equivalent) UMLS:C3501891 E (Exact mapping: the two concepts are equivalent) MSCAE Mitochondrial spinocerebellar ataxia with epilepsy SCAE A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate. Orphanet ICD-10:E88.8 ICD-11:5C53.21 MeSH:C564395 OMIM:607459 UMLS:C1843852 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254881 Spinocerebellar ataxia with epilepsy ORPHA:254881 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564395 E (Exact mapping: the two concepts are equivalent) OMIM:607459 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1843852 E (Exact mapping: the two concepts are equivalent) arPEO A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form. Orphanet ICD-10:H49.4 ICD-11:9C82.0 MeSH:C564926 OMIM:258450 OMIM:617069 UMLS:C1850303 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254886 Autosomal recessive progressive external ophthalmoplegia ORPHA:254886 ICD-10:H49.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564926 E (Exact mapping: the two concepts are equivalent) OMIM:258450 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617069 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1850303 E (Exact mapping: the two concepts are equivalent) adPEO A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. Orphanet ICD-10:H49.4 ICD-11:9C82.0 OMIM:157640 OMIM:609283 OMIM:609286 OMIM:610131 OMIM:613077 UMLS:C5231255 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254892 Autosomal dominant progressive external ophthalmoplegia ORPHA:254892 ICD-10:H49.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:157640 E (Exact mapping: the two concepts are equivalent) OMIM:609283 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609286 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610131 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613077 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5231255 E (Exact mapping: the two concepts are equivalent) Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. Orphanet ICD-10:E88.8 ICD-11:5C53.22 OMIM:614651 UMLS:C4706538 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614651 E (Exact mapping: the two concepts are equivalent) UMLS:C4706538 E (Exact mapping: the two concepts are equivalent) Hemifacial microsomia-radial defects syndrome Moeschler-Clarren syndrome A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. Orphanet ICD-10:Q75.8 ICD-11:LD2F.16 OMIM:141400 UMLS:C0220681 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2549 Oculoauriculovertebral spectrum with radial defects ORPHA:2549 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:141400 E (Exact mapping: the two concepts are equivalent) UMLS:C0220681 E (Exact mapping: the two concepts are equivalent) Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders. Orphanet ICD-10:E88.8 ICD-11:5C53.2Y OMIM:124000 UMLS:C4274075 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254902 Renal tubulopathy-encephalopathy-liver failure syndrome ORPHA:254902 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:124000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4274075 E (Exact mapping: the two concepts are equivalent) Isolated COX deficiency Isolated mitochondrial respiratory chain complex IV deficiency A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver. Orphanet ICD-10:E88.8 ICD-11:5C53.2Y MeSH:D030401 OMIM:220110 OMIM:619046 OMIM:619048 OMIM:619051 OMIM:619052 OMIM:619053 OMIM:619054 OMIM:619055 OMIM:619058 OMIM:619059 OMIM:619060 OMIM:619061 OMIM:619062 OMIM:619063 OMIM:619064 OMIM:619355 UMLS:C5779825 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254905 Isolated cytochrome C oxidase deficiency ORPHA:254905 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D030401 E (Exact mapping: the two concepts are equivalent) OMIM:220110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619046 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619048 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619051 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619052 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619053 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619054 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619055 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619058 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619059 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619060 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619061 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619062 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619063 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619064 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619355 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5779825 E (Exact mapping: the two concepts are equivalent) Isolated mitochondrial respiratory chain complex V deficiency Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). Orphanet ICD-10:E88.8 ICD-11:5C53.25 OMIM:604273 OMIM:614053 OMIM:615228 OMIM:618120 OMIM:618683 UMLS:C4757950 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254913 Isolated ATP synthase deficiency ORPHA:254913 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.25 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:604273 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614053 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615228 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618683 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4757950 E (Exact mapping: the two concepts are equivalent) COXPD2 Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. Orphanet ICD-10:E88.8 ICD-11:5C53.23 MeSH:C566468 OMIM:610498 UMLS:C1864843 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254920 Combined oxidative phosphorylation defect type 2 ORPHA:254920 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566468 E (Exact mapping: the two concepts are equivalent) OMIM:610498 E (Exact mapping: the two concepts are equivalent) UMLS:C1864843 E (Exact mapping: the two concepts are equivalent) COXPD4 Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. Orphanet ICD-10:E88.8 ICD-11:5C53.23 MeSH:C565690 OMIM:610678 UMLS:C1857682 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254925 Combined oxidative phosphorylation defect type 4 ORPHA:254925 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565690 E (Exact mapping: the two concepts are equivalent) OMIM:610678 E (Exact mapping: the two concepts are equivalent) UMLS:C1857682 E (Exact mapping: the two concepts are equivalent) COXPD7 Severe C12ORF65-related COXPD Severe C12ORF65-related combined oxidative phosphorylation defect Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:613559 UMLS:C3150801 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=254930 Combined oxidative phosphorylation defect type 7 ORPHA:254930 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613559 E (Exact mapping: the two concepts are equivalent) UMLS:C3150801 E (Exact mapping: the two concepts are equivalent) HPD with diurnal fluctuation Hereditary progressive dystonia with diurnal fluctuation Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. Orphanet ICD-11:8A02.11 MeSH:C538007 MedDRA:10080034 UMLS:C1851920 Autosomal dominant Autosomal recessive Not applicable Childhood Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255 Dopa-responsive dystonia Clinical group ORPHA:255 ICD-11:8A02.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538007 E (Exact mapping: the two concepts are equivalent) MedDRA:10080034 E (Exact mapping: the two concepts are equivalent) UMLS:C1851920 E (Exact mapping: the two concepts are equivalent) Verloes-Van Maldergem-de Marneffe syndrome Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Orphanet ICD-10:Q87.5 OMIM:157151 UMLS:C4510377 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2551 Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:157151 E (Exact mapping: the two concepts are equivalent) UMLS:C4510377 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal dominant optic atrophy plus syndrome OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness ORPHA:255117 GLRX5-related sideroblastic anemia A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (<i>GLRX5</i>) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. Orphanet ICD-10:D64.0 ICD-11:3A72.00 OMIM:616860 UMLS:C4304054 Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255132 Adult-onset autosomal recessive sideroblastic anemia ORPHA:255132 ICD-10:D64.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616860 E (Exact mapping: the two concepts are equivalent) UMLS:C4304054 E (Exact mapping: the two concepts are equivalent) PDHBD Pyruvate dehydrogenase complex E1 component subunit beta deficiency Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia. Orphanet ICD-10:E74.4 ICD-11:5C53.02 MeSH:C566729 OMIM:614111 UMLS:C3279841 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255138 Pyruvate dehydrogenase E1-beta deficiency Clinical subtype ORPHA:255138 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566729 E (Exact mapping: the two concepts are equivalent) OMIM:614111 E (Exact mapping: the two concepts are equivalent) UMLS:C3279841 E (Exact mapping: the two concepts are equivalent) 2-oxoglutarate complex deficiency Branched chain alpha-ketoacid dehydrogenase complex deficiency Diaphorase deficiency Dihydrolipoyl dehydrogenase deficiency Glycine cleavage system L protein deficiency Lipoamide dehydrogenase deficiency Pyruvate dehydrogenase complex component E3 deficiency Pyruvate dehydrogenase protein X component deficiency Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction. Orphanet ICD-10:E74.4 ICD-11:5C53.02 MeSH:C565447 OMIM:245349 UMLS:C1855553 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255182 Pyruvate dehydrogenase E3-binding protein deficiency Clinical subtype ORPHA:255182 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565447 E (Exact mapping: the two concepts are equivalent) OMIM:245349 E (Exact mapping: the two concepts are equivalent) UMLS:C1855553 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Sporadic Leigh disease OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Mitochondrial DNA-associated Leigh syndrome OBSOLETE: Sporadic Leigh syndrome ORPHA:255199 Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites). Orphanet ICD-10:B60.8 ICD-11:1F58 MeSH:D016881 MedDRA:10053982 UMLS:C0085407 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2552 Microsporidiosis ORPHA:2552 ICD-10:B60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1F58 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016881 E (Exact mapping: the two concepts are equivalent) MedDRA:10053982 E (Exact mapping: the two concepts are equivalent) UMLS:C0085407 E (Exact mapping: the two concepts are equivalent) MILS Maternally-inherited Leigh disease Maternally-inherited infantile subacute necrotizing encephalopathy mtDNA-associated Leigh syndrome Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. Orphanet ICD-10:E88.8 ICD-11:8C73.Y MeSH:C536035 OMIM:500017 UMLS:C2931092 Mitochondrial inheritance Childhood Infancy Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255210 Mitochondrial DNA-associated Leigh syndrome ORPHA:255210 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536035 E (Exact mapping: the two concepts are equivalent) OMIM:500017 E (Exact mapping: the two concepts are equivalent) UMLS:C2931092 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy ORPHA:255225 Navajo neuropathy A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism. Orphanet ICD-10:E88.8 ICD-11:5C53.20 MeSH:C538344 OMIM:256810 UMLS:C1850406 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 49.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255229 Navajo neurohepatopathy ORPHA:255229 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538344 E (Exact mapping: the two concepts are equivalent) OMIM:256810 E (Exact mapping: the two concepts are equivalent) UMLS:C1850406 E (Exact mapping: the two concepts are equivalent) mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy. Orphanet ICD-10:G31.8 ICD-11:5C53.20 OMIM:612075 UMLS:C2749861 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612075 E (Exact mapping: the two concepts are equivalent) UMLS:C2749861 E (Exact mapping: the two concepts are equivalent) Infantile subacute necrotizing encephalopathy with leukodystrophy Leigh disease with leukodystrophy This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leigh syndrome UMLS:C5679635 Leigh syndrome with leukodystrophy ORPHA:255241 UMLS:C5679635 E (Exact mapping: the two concepts are equivalent) Infantile subacute necrotizing encephalopathy with nephrotic syndrome Leigh disease with nephrotic syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leigh syndrome UMLS:C5190833 Leigh syndrome with nephrotic syndrome ORPHA:255249 UMLS:C5190833 E (Exact mapping: the two concepts are equivalent) Meier-Gorlin syndrome A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). Orphanet ICD-10:Q87.1 ICD-11:LD24.JY MeSH:C538012 MedDRA:10070612 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:613804 OMIM:613805 OMIM:616835 OMIM:617063 UMLS:C1868684 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 67.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2554 Ear-patella-short stature syndrome ORPHA:2554 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.JY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538012 E (Exact mapping: the two concepts are equivalent) MedDRA:10070612 E (Exact mapping: the two concepts are equivalent) OMIM:224690 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613803 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613804 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613805 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616835 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617063 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1868684 E (Exact mapping: the two concepts are equivalent) MCOPS7 MIDAS syndrome MLS syndrome Microphthalmia-dermal aplasia-sclerocornea syndrome Syndromic microphthalmia type 7 A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Orphanet ICD-10:Q11.2 ICD-11:LD21.0 MeSH:C537466 OMIM:300887 OMIM:300952 OMIM:309801 UMLS:C0796070 X-linked dominant Neonatal Worldwide AND has_cases/families_value : 55.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2556 Microphthalmia with linear skin defects syndrome ORPHA:2556 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537466 E (Exact mapping: the two concepts are equivalent) OMIM:300887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300952 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:309801 E (Exact mapping: the two concepts are equivalent) UMLS:C0796070 E (Exact mapping: the two concepts are equivalent) Intellectual disability, Mietens-Weber type Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. Orphanet ICD-10:Q87.8 ICD-11:9A70.Y MeSH:C537444 OMIM:249600 UMLS:C0265249 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2557 Mietens syndrome ORPHA:2557 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537444 E (Exact mapping: the two concepts are equivalent) OMIM:249600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265249 E (Exact mapping: the two concepts are equivalent) Microcephaly-hypergonadotropic hypogonadism-short stature syndrome Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). Orphanet ICD-10:E22.8 UMLS:C4518578 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2558 Mikati-Najjar-Sahli syndrome ORPHA:2558 ICD-10:E22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518578 E (Exact mapping: the two concepts are equivalent) Dystonia musculorum deformans EOTD Early-onset generalized torsion dystonia Early-onset isolated dystonia Early-onset primary dystonia Early-onset torsion dystonia Idiopathic torsion dystonia Oppenheim dystonia A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region. Orphanet ICD-10:G24.1 ICD-11:8A02.0Y OMIM:128100 OMIM:602554 UMLS:C3888090 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 20.0 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=256 Early-onset generalized limb-onset dystonia ORPHA:256 ICD-10:G24.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:128100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602554 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3888090 E (Exact mapping: the two concepts are equivalent) A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. Orphanet ICD-10:E23.0 UMLS:C4510410 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome ORPHA:2560 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510410 E (Exact mapping: the two concepts are equivalent) Ackerman fused molar roots syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. Orphanet ICD-10:K00.2 MeSH:C538170 OMIM:200970 UMLS:C1860167 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2561 Pyramidal molars-abnormal upper lip syndrome ORPHA:2561 ICD-10:K00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538170 E (Exact mapping: the two concepts are equivalent) OMIM:200970 E (Exact mapping: the two concepts are equivalent) UMLS:C1860167 E (Exact mapping: the two concepts are equivalent) Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C535812 OMIM:157980 UMLS:C1834759 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2563 MOMO syndrome ORPHA:2563 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535812 E (Exact mapping: the two concepts are equivalent) OMIM:157980 E (Exact mapping: the two concepts are equivalent) UMLS:C1834759 E (Exact mapping: the two concepts are equivalent) Sommer-Hines syndrome Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q73.8 MeSH:C566066 OMIM:187510 UMLS:C1861233 Autosomal dominant Antenatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2564 Tetramelic monodactyly ORPHA:2564 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566066 E (Exact mapping: the two concepts are equivalent) OMIM:187510 E (Exact mapping: the two concepts are equivalent) UMLS:C1861233 E (Exact mapping: the two concepts are equivalent) Skeletal dysplasia-brachydactyly syndrome Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Orphanet ICD-10:Q87.5 MeSH:C535914 OMIM:301940 UMLS:C2931060 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2565 Mononen-Karnes-Senac syndrome ORPHA:2565 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535914 E (Exact mapping: the two concepts are equivalent) OMIM:301940 E (Exact mapping: the two concepts are equivalent) UMLS:C2931060 E (Exact mapping: the two concepts are equivalent) CAEBV syndrome Chronic EBV infection syndrome Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency. Orphanet ICD-10:B27.0 OMIM:226990 UMLS:C4751209 Unknown Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2566 Chronic Epstein-Barr virus infection syndrome ORPHA:2566 ICD-10:B27.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:226990 E (Exact mapping: the two concepts are equivalent) UMLS:C4751209 E (Exact mapping: the two concepts are equivalent) Dwarfism-stiff joint-ocular abnormalities syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acromicric dysplasia OMIM:127200 UMLS:C0265349 Moore-Federman syndrome ORPHA:2569 OMIM:127200 E (Exact mapping: the two concepts are equivalent) UMLS:C0265349 E (Exact mapping: the two concepts are equivalent) EBS with muscular dystrophy EBS-MD Limb-girdle muscular dystrophy with epidermolysis bullosa simplex A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. Orphanet ICD-10:Q81.0 ICD-11:EC30 OMIM:226670 UMLS:C2931072 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=257 Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:226670 E (Exact mapping: the two concepts are equivalent) UMLS:C2931072 E (Exact mapping: the two concepts are equivalent) Morse-Rawnsley-Sargent syndrome A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q04.2 OMIM:306990 UMLS:C4274798 Antenatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome ORPHA:2570 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:306990 E (Exact mapping: the two concepts are equivalent) UMLS:C4274798 E (Exact mapping: the two concepts are equivalent) Woods-Black-Norbury syndrome X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. Orphanet ICD-10:D82.8 ICD-11:4A01.0Y MeSH:C536743 OMIM:300076 UMLS:C1848144 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2571 X-linked immunoneurologic disorder ORPHA:2571 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536743 E (Exact mapping: the two concepts are equivalent) OMIM:300076 E (Exact mapping: the two concepts are equivalent) UMLS:C1848144 E (Exact mapping: the two concepts are equivalent) Bedouin spastic ataxia syndrome Mousa-Al Din-Al Nassar syndrome Spastic ataxia-ocular anomalies syndrome A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:G11.8 ICD-11:9A70.Y MeSH:C536989 OMIM:271320 UMLS:C1849085 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2572 Spastic ataxia-corneal dystrophy syndrome ORPHA:2572 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536989 E (Exact mapping: the two concepts are equivalent) OMIM:271320 E (Exact mapping: the two concepts are equivalent) UMLS:C1849085 E (Exact mapping: the two concepts are equivalent) Idiopathic Moyamoya disease Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. Orphanet ICD-10:I67.5 ICD-11:8B22.B MeSH:D009072 MedDRA:10028047 OMIM:252350 OMIM:607151 OMIM:608796 OMIM:614042 UMLS:C0026654 Autosomal dominant Autosomal recessive Multigenic/multifactorial X-linked recessive All ages China AND has_annual_incidence_average_value : 0.43 AND has_annual_incidence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 3.92 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 6.2 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 0.44 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.086 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2573 Moyamoya disease ORPHA:2573 ICD-10:I67.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B22.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009072 E (Exact mapping: the two concepts are equivalent) MedDRA:10028047 E (Exact mapping: the two concepts are equivalent) OMIM:252350 E (Exact mapping: the two concepts are equivalent) OMIM:607151 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608796 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614042 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0026654 E (Exact mapping: the two concepts are equivalent) Alopecia-epilepsy-intellectual disability syndrome, Moynahan type A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. Orphanet ICD-10:G40.4 MeSH:C537052 OMIM:203600 UMLS:C0265328 Neonatal Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2574 Moynahan syndrome ORPHA:2574 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537052 E (Exact mapping: the two concepts are equivalent) OMIM:203600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265328 E (Exact mapping: the two concepts are equivalent) Lubani-Al Saleh-Teebi syndrome A rare genetic disease characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:E84.8 MeSH:C537039 OMIM:219721 UMLS:C2931402 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome ORPHA:2575 ICD-10:E84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537039 E (Exact mapping: the two concepts are equivalent) OMIM:219721 E (Exact mapping: the two concepts are equivalent) UMLS:C2931402 E (Exact mapping: the two concepts are equivalent) MUL Mulibrey growth disorder Muscle-liver-brain-eye nanism A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:D050336 OMIM:253250 UMLS:C0524582 Autosomal recessive Childhood Infancy Neonatal Finland AND has_annual_incidence_average_value : 2.7 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2576 Mulibrey nanism ORPHA:2576 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D050336 E (Exact mapping: the two concepts are equivalent) OMIM:253250 E (Exact mapping: the two concepts are equivalent) UMLS:C0524582 E (Exact mapping: the two concepts are equivalent) Atypical MRKH syndrome MRKH syndrome type 2 MURCS association Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. Orphanet ICD-10:Q87.8 ICD-11:LD2F.14 OMIM:601076 UMLS:C4305568 Autosomal dominant Not applicable Adolescent Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Clinical subtype ORPHA:2578 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.14 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601076 E (Exact mapping: the two concepts are equivalent) UMLS:C4305568 E (Exact mapping: the two concepts are equivalent) Furukawa-Takagi-Nakao syndrome A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:G11.1 MeSH:C538193 OMIM:158500 UMLS:C2931765 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ORPHA:2579 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538193 E (Exact mapping: the two concepts are equivalent) OMIM:158500 E (Exact mapping: the two concepts are equivalent) UMLS:C2931765 E (Exact mapping: the two concepts are equivalent) CMD1A Congenital muscular dystrophy due to laminin alpha2 deficiency Congenital muscular dystrophy type 1A MDC1A Merosin-negative congenital muscular dystrophy Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. Orphanet ICD-10:G71.2 MeSH:C537384 OMIM:607855 OMIM:618138 UMLS:C1263858 Autosomal recessive Neonatal Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=258 Laminin subunit alpha 2-related congenital muscular dystrophy ORPHA:258 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537384 E (Exact mapping: the two concepts are equivalent) OMIM:607855 E (Exact mapping: the two concepts are equivalent) OMIM:618138 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1263858 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome ORPHA:2580 Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. Orphanet ICD-10:M35.8 ICD-11:4A43.Y MeSH:D016603 MedDRA:10014952 UMLS:C1275050 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2582 Myalgia-eosinophilia syndrome associated with tryptophan ORPHA:2582 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:4A43.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016603 E (Exact mapping: the two concepts are equivalent) MedDRA:10014952 E (Exact mapping: the two concepts are equivalent) UMLS:C1275050 E (Exact mapping: the two concepts are equivalent) Madura foot Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. Orphanet ICD-10:B47.0 ICD-10:B47.1 ICD-10:B47.9 ICD-11:1C43 ICD-11:1F29 ICD-11:1G60.0 MeSH:D008271 MedDRA:10028427 UMLS:C0024449 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2583 Mycetoma ORPHA:2583 ICD-10:B47.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B47.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B47.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C43 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F29 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1G60.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008271 E (Exact mapping: the two concepts are equivalent) MedDRA:10028427 E (Exact mapping: the two concepts are equivalent) UMLS:C0024449 E (Exact mapping: the two concepts are equivalent) Mycosis fungoides, Alibert-Bazin type Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. Orphanet ICD-10:C84.0 OMIM:254400 UMLS:C4707404 Multigenic/multifactorial Not applicable Adult Europe AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2584 Classic mycosis fungoides ORPHA:2584 ICD-10:C84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:254400 E (Exact mapping: the two concepts are equivalent) UMLS:C4707404 E (Exact mapping: the two concepts are equivalent) Myelocerebellar disorder A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. Orphanet ICD-10:D61.0 MeSH:C563233 OMIM:159550 UMLS:C1327919 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2585 Ataxia-pancytopenia syndrome ORPHA:2585 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563233 E (Exact mapping: the two concepts are equivalent) OMIM:159550 E (Exact mapping: the two concepts are equivalent) UMLS:C1327919 E (Exact mapping: the two concepts are equivalent) 12q14.3 DKFZp686C1178 FLJ36866 ClinVar:MSRB3 Ensembl:ENSG00000174099 Genatlas:MSRB3 HGNC:27375 OMIM:613719 Reactome:Q8IXL7 SwissProt:Q8IXL7 MSRB3 methionine sulfoxide reductase B3 20p12.3 KIAA0581 PLC-I PLC154 phosphoinositide phospholipase C ClinVar:PLCB1 Ensembl:ENSG00000182621 Genatlas:PLCB1 HGNC:15917 IUPHAR:1403 OMIM:607120 Reactome:Q9NQ66 SwissProt:Q9NQ66 PLCB1 phospholipase C beta 1 15q22.31 NEM6 hCG_1645727 nemaline myopathy type 6 ClinVar:KBTBD13 Ensembl:ENSG00000234438 Genatlas:KBTBD13 HGNC:37227 OMIM:613727 Reactome:C9JR72 SwissProt:C9JR72 KBTBD13 kelch repeat and BTB domain containing 13 6p21.32 D6S216E PSMB5i RING10 beta5i proteasome subunit ß5i ClinVar:PSMB8 Ensembl:ENSG00000204264 Genatlas:PSMB8 HGNC:9545 IUPHAR:2408 OMIM:177046 Reactome:P28062 SwissProt:P28062 PSMB8 proteasome 20S subunit beta 8 4q33 KIAA1901 NY-REN-55 ClinVar:NEK1 Ensembl:ENSG00000137601 Genatlas:NEK1 HGNC:7744 IUPHAR:2114 OMIM:604588 Reactome:Q96PY6 SwissProt:Q96PY6 NEK1 NIMA related kinase 1 4q24 ARS-interacting multifunctional protein 1 EMAP II EMAP-2 EMAPII multisynthetase complex auxiliary component p43 p43 ClinVar:AIMP1 Ensembl:ENSG00000164022 Genatlas:AIMP1 HGNC:10648 OMIM:603605 Reactome:Q12904 SwissProt:Q12904 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 14q24.1 ClinVar:SMOC1 Ensembl:ENSG00000198732 Genatlas:SMOC1 HGNC:20318 OMIM:608488 Reactome:Q9H4F8 SwissProt:Q9H4F8 SMOC1 SPARC related modular calcium binding 1 12q12 DKFZp313M0720 ClinVar:ANO6 Ensembl:ENSG00000177119 Genatlas:ANO6 HGNC:25240 OMIM:608663 Reactome:Q4KMQ2 SwissProt:Q4KMQ2 ANO6 anoctamin 6 MPO deficiency A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus. Orphanet ICD-10:E80.3 ICD-11:4A00.0Y MeSH:C562864 MedDRA:10074767 OMIM:254600 UMLS:C0398595 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2587 Myeloperoxidase deficiency ORPHA:2587 ICD-10:E80.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562864 E (Exact mapping: the two concepts are equivalent) MedDRA:10074767 E (Exact mapping: the two concepts are equivalent) OMIM:254600 E (Exact mapping: the two concepts are equivalent) UMLS:C0398595 E (Exact mapping: the two concepts are equivalent) Facial dysmorphism-intellectual disability-short stature-deafness syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Myhre-LAPS syndrome Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common. Orphanet ICD-10:Q87.8 MeSH:C537620 OMIM:139210 UMLS:C0796081 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2588 Myhre syndrome ORPHA:2588 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537620 E (Exact mapping: the two concepts are equivalent) OMIM:139210 E (Exact mapping: the two concepts are equivalent) UMLS:C0796081 E (Exact mapping: the two concepts are equivalent) Myoclonus-cerebellar ataxia-hearing loss syndrome This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Orphanet ICD-10:G11.1 ICD-11:LD2H.Y OMIM:159800 UMLS:C4518566 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2589 Myoclonus-cerebellar ataxia-deafness syndrome ORPHA:2589 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:159800 E (Exact mapping: the two concepts are equivalent) UMLS:C4518566 E (Exact mapping: the two concepts are equivalent) Hereditary myoclonus-progressive distal muscular atrophy syndrome Jankovic-Rivera syndrome SMA-PME Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. Orphanet ICD-10:G25.3 MeSH:C537563 OMIM:159950 UMLS:C1834569 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590 ICD-10:G25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537563 E (Exact mapping: the two concepts are equivalent) OMIM:159950 E (Exact mapping: the two concepts are equivalent) UMLS:C1834569 E (Exact mapping: the two concepts are equivalent) A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts. Orphanet ICD-10:D48.1 ICD-11:2F7C MeSH:C562978 OMIM:228550 OMIM:615293 UMLS:C0432284 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2591 Infantile myofibromatosis ORPHA:2591 ICD-10:D48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562978 E (Exact mapping: the two concepts are equivalent) OMIM:228550 E (Exact mapping: the two concepts are equivalent) OMIM:615293 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432284 E (Exact mapping: the two concepts are equivalent) A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described. Orphanet ICD-10:G71.2 ICD-11:8C72.Y OMIM:160565 OMIM:615883 UMLS:C0410207 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2593 Tubular aggregate myopathy ORPHA:2593 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:160565 E (Exact mapping: the two concepts are equivalent) OMIM:615883 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0410207 E (Exact mapping: the two concepts are equivalent) 16p13.3 FANCP Fanconi anemia, complementation group P KIAA1784 KIAA1987 ClinVar:SLX4 Ensembl:ENSG00000188827 Genatlas:SLX4 HGNC:23845 OMIM:613278 Reactome:Q8IY92 SwissProt:Q8IY92 SLX4 SLX4 structure-specific endonuclease subunit 19p13.2 HPAP TRAP TRAcP human purple acid phosphatase tartrate-resistant acid phosphatase ClinVar:ACP5 Ensembl:ENSG00000102575 Genatlas:ACP5 HGNC:124 OMIM:171640 Reactome:P13686 SwissProt:P13686 ACP5 acid phosphatase 5, tartrate resistant 1p36.11 DS FLJ13102 HDS RP59 hCIT ClinVar:DHDDS Ensembl:ENSG00000117682 Genatlas:DHDDS HGNC:20603 OMIM:608172 Reactome:Q86SQ9 SwissProt:Q86SQ9 DHDDS dehydrodolichyl diphosphate synthase subunit 2p13.3 GFA GFAT GFAT1 ClinVar:GFPT1 Ensembl:ENSG00000198380 Genatlas:GFPT1 HGNC:4241 OMIM:138292 Reactome:Q06210 SwissProt:Q06210 GFPT1 glutamine--fructose-6-phosphate transaminase 1 3q13.33 MGC50831 angulin-2 ClinVar:ILDR1 Ensembl:ENSG00000145103 Genatlas:ILDR1 HGNC:28741 OMIM:609739 SwissProt:Q86SU0 ILDR1 immunoglobulin like domain containing receptor 1 A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. Orphanet ICD-10:G71.3 ICD-11:8C73.Y OMIM:500002 UMLS:C5191051 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2596 Myopathy and diabetes mellitus ORPHA:2596 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:500002 E (Exact mapping: the two concepts are equivalent) UMLS:C5191051 E (Exact mapping: the two concepts are equivalent) Benign occipital epilepsy Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. Orphanet ICD-10:G40.0 ICD-11:8A61.2Y OMIM:132090 UMLS:C1851549 Not applicable Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=25968 Self-limited childhood occipital epilepsy ORPHA:25968 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:132090 E (Exact mapping: the two concepts are equivalent) UMLS:C1851549 E (Exact mapping: the two concepts are equivalent) Mitochondrial myopathy-lactic acidosis-hearing loss syndrome A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. Orphanet ICD-10:G71.3 MeSH:C537476 OMIM:251950 UMLS:C4518539 No data available Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537476 E (Exact mapping: the two concepts are equivalent) OMIM:251950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4518539 E (Exact mapping: the two concepts are equivalent) MLASA Myopathy, lactic acidosis and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. Orphanet ICD-10:G71.3 ICD-11:3A72.0Y MeSH:C536101 OMIM:500011 OMIM:600462 OMIM:613561 UMLS:C1838103 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2598 Mitochondrial myopathy and sideroblastic anemia ORPHA:2598 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536101 E (Exact mapping: the two concepts are equivalent) OMIM:500011 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600462 E (Exact mapping: the two concepts are equivalent) OMIM:613561 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1838103 E (Exact mapping: the two concepts are equivalent) XMEA A rare X-linked myopathy characterized by childhood or adult-onset of slowly progressive muscle weakness and unique histopathological findings (autophagic vacuoles with sarcolemmal features). Orphanet ICD-10:G71.8 ICD-11:4A41.21 MeSH:C564093 OMIM:310440 UMLS:C1839615 X-linked recessive Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=25980 X-linked myopathy with excessive autophagy ORPHA:25980 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564093 E (Exact mapping: the two concepts are equivalent) OMIM:310440 E (Exact mapping: the two concepts are equivalent) UMLS:C1839615 E (Exact mapping: the two concepts are equivalent) Combined defect in adenosylcobalamin and methylcobalamin synthesis Methylmalonic aciduria with homocystinuria A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C537359 OMIM:277380 OMIM:277400 OMIM:277410 OMIM:614857 UMLS:C1848561 Autosomal recessive X-linked recessive All ages Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26 Methylmalonic acidemia with homocystinuria ORPHA:26 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537359 E (Exact mapping: the two concepts are equivalent) OMIM:277380 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:277400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:277410 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614857 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1848561 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Muscular dystrophy OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome ORPHA:2601 ARSA Congenital sideroblastic anemia Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. Orphanet ICD-10:D64.0 ICD-11:3A72.00 OMIM:205950 UMLS:C4274077 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=260305 Autosomal recessive sideroblastic anemia ORPHA:260305 ICD-10:D64.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:205950 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274077 E (Exact mapping: the two concepts are equivalent) 15q22.33 HsT17436 JV15-2 ClinVar:SMAD3 Ensembl:ENSG00000166949 Genatlas:SMAD3 HGNC:6769 OMIM:603109 Reactome:P84022 SwissProt:P84022 SMAD3 SMAD family member 3 2q23.1 HsORC4 Orc4p ClinVar:ORC4 Ensembl:ENSG00000115947 Genatlas:ORC4 HGNC:8490 OMIM:603056 Reactome:O43929 SwissProt:O43929 ORC4 origin recognition complex subunit 4 16q11.2 ClinVar:ORC6 Ensembl:ENSG00000091651 Genatlas:ORC6 HGNC:17151 OMIM:607213 Reactome:Q9Y5N6 SwissProt:Q9Y5N6 ORC6 origin recognition complex subunit 6 16q24.3 DUP RIS2 ClinVar:CDT1 Ensembl:ENSG00000167513 Genatlas:CDT1 HGNC:24576 OMIM:605525 Reactome:Q9H211 SwissProt:Q9H211 CDT1 chromatin licensing and DNA replication factor 1 17q21.2 ClinVar:CDC6 Ensembl:ENSG00000094804 Genatlas:CDC6 HGNC:1744 OMIM:602627 Reactome:Q99741 SwissProt:Q99741 CDC6 cell division cycle 6 2q24.3 CFAP60 FAP60 FLA17 FLJ11457 IFT139 IFT139B JBTS11 NPHP12 Nephronophthisis type12 THM1 intraflagellar transport 139 homolog tetratricopeptide repeat-containing hedgehog modulator-1 ClinVar:TTC21B Ensembl:ENSG00000123607 Genatlas:TTC21B HGNC:25660 OMIM:612014 Reactome:Q7Z4L5 SwissProt:Q7Z4L5 TTC21B tetratricopeptide repeat domain 21B 17p12 FLJ20343 MGC19520 Tetratricopeptide repeat protein 19, mitochondrial ClinVar:TTC19 Ensembl:ENSG00000011295 Genatlas:TTC19 HGNC:26006 OMIM:613814 SwissProt:Q6DKK2 TTC19 tetratricopeptide repeat domain 19 12q24.31 FLJ12975 JBTS24 MKS8 Meckel syndrome, type 8 TECT2 ClinVar:TCTN2 Ensembl:ENSG00000168778 Genatlas:TCTN2 HGNC:25774 OMIM:613846 Reactome:Q96GX1 SwissProt:Q96GX1 TCTN2 tectonic family member 2 Familial hollow visceral myopathy Hereditary hollow visceral myopathy Megaduodenum and/or megacystis Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. Orphanet ICD-10:K56.0 ICD-11:DA90.2 MeSH:C562574 OMIM:155310 OMIM:619350 UMLS:C0266833 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2604 Familial visceral myopathy ORPHA:2604 ICD-10:K56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562574 E (Exact mapping: the two concepts are equivalent) OMIM:155310 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:619350 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0266833 E (Exact mapping: the two concepts are equivalent) 10p12.1 KIAA1074 ClinVar:ANKRD26 Ensembl:ENSG00000107890 Genatlas:ANKRD26 HGNC:29186 OMIM:610855 SwissProt:Q9UPS8 ANKRD26 ankyrin repeat domain containing 26 5q11.2 MAPKKK1 MEKK ClinVar:MAP3K1 Ensembl:ENSG00000095015 Genatlas:MAP3K1 HGNC:6848 IUPHAR:2069 OMIM:600982 Reactome:Q13233 SwissProt:Q13233 MAP3K1 mitogen-activated protein kinase kinase kinase 1 1p32.3 HSORC1 PARC1 origin recognition complex 1 origin recognition complex, subunit 1, S. cerevisiae, homolog-like replication control protein 1 ClinVar:ORC1 Ensembl:ENSG00000085840 Genatlas:ORC1 HGNC:8487 OMIM:601902 Reactome:Q13415 SwissProt:Q13415 ORC1 origin recognition complex subunit 1 3p21.2 HBEBP2 HBEBP4 ClinVar:GLYCTK Ensembl:ENSG00000168237 Genatlas:GLYCTK HGNC:24247 OMIM:610516 Reactome:Q8IVS8 SwissProt:Q8IVS8 GLYCTK glycerate kinase 2p25.3 CL-11 CL-K1 Collectin K1 MGC3279 ClinVar:COLEC11 Ensembl:ENSG00000118004 Genatlas:COLEC11 HGNC:17213 OMIM:612502 Reactome:Q9BWP8 SwissProt:Q9BWP8 COLEC11 collectin subfamily member 11 17q25.3 ALK lymphoma oligomerization partner on chromosome 17 ALO17 KIAA1554 NET57 mysterin ClinVar:RNF213 Ensembl:ENSG00000173821 Genatlas:RNF213 HGNC:14539 OMIM:613768 Reactome:Q63HN8 SwissProt:Q63HN8 RNF213 ring finger protein 213 A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C536108 OMIM:310465 UMLS:C2936859 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2608 N syndrome ORPHA:2608 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536108 E (Exact mapping: the two concepts are equivalent) OMIM:310465 E (Exact mapping: the two concepts are equivalent) UMLS:C2936859 E (Exact mapping: the two concepts are equivalent) 22q11.21 ClinVar:TUBA8 Ensembl:ENSG00000183785 Genatlas:TUBA8 HGNC:12410 OMIM:605742 Reactome:Q9NY65 SwissProt:Q9NY65 TUBA8 tubulin alpha 8 2q35 AICARFT IMPCHASE PURH phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase ClinVar:ATIC Ensembl:ENSG00000138363 Genatlas:ATIC HGNC:794 OMIM:601731 Reactome:P31939 SwissProt:P31939 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Isolated NADH-CoQ reductase deficiency Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated mitochondrial respiratory chain complex I deficiency Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms). Orphanet ICD-10:G71.3 ICD-11:5C53.2Y MeSH:C537475 OMIM:252010 OMIM:301020 OMIM:301021 OMIM:618222 OMIM:618224 OMIM:618225 OMIM:618226 OMIM:618228 OMIM:618229 OMIM:618230 OMIM:618232 OMIM:618233 OMIM:618234 OMIM:618236 OMIM:618237 OMIM:618238 OMIM:618240 OMIM:618241 OMIM:618242 OMIM:618245 OMIM:618246 OMIM:618250 OMIM:618251 OMIM:618253 OMIM:618776 OMIM:619003 OMIM:619170 OMIM:619272 OMIM:620135 UMLS:C1838979 Autosomal recessive Mitochondrial inheritance X-linked dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2609 Isolated complex I deficiency ORPHA:2609 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537475 E (Exact mapping: the two concepts are equivalent) OMIM:252010 E (Exact mapping: the two concepts are equivalent) OMIM:301020 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301021 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618222 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618224 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618225 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618226 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618228 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618229 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618232 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618233 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618234 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618236 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618237 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618238 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618240 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618241 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618242 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618245 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618246 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618251 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618253 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618776 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619003 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619170 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619272 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620135 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1838979 E (Exact mapping: the two concepts are equivalent) EDMD A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. Orphanet ICD-10:G71.0 ICD-11:8C70.2 MeSH:D020389 MedDRA:10081544 OMIM:181350 OMIM:300696 OMIM:310300 OMIM:612998 OMIM:612999 OMIM:614302 OMIM:616516 UMLS:C0410189 Autosomal dominant Autosomal recessive X-linked recessive Childhood Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261 Emery-Dreifuss muscular dystrophy ORPHA:261 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C70.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020389 E (Exact mapping: the two concepts are equivalent) MedDRA:10081544 E (Exact mapping: the two concepts are equivalent) OMIM:181350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300696 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:310300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612998 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612999 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614302 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616516 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0410189 E (Exact mapping: the two concepts are equivalent) FDGC Familial diffuse cancer of stomach Familial diffuse gastric cancer HDGC Hereditary diffuse cancer of stomach Hereditary diffuse gastric adenocarcinoma Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of <i>CDH1</i>, <i>MAP3K6</i> and <i>CTNNA1</i> genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well. Orphanet ICD-10:C16.9 OMIM:137215 UMLS:C4721859 Autosomal dominant Adult Europe AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26106 Hereditary diffuse gastric cancer ORPHA:26106 ICD-10:C16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:137215 E (Exact mapping: the two concepts are equivalent) UMLS:C4721859 E (Exact mapping: the two concepts are equivalent) Linear hamartoma syndrome A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood. Orphanet ICD-10:Q82.5 UMLS:C5679838 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2611 Linear verrucous nevus syndrome ORPHA:2611 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679838 E (Exact mapping: the two concepts are equivalent) Distal dup(7)(q11.23) Distal trisomy 7q11.23 Dup7q11.23D Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.60 UMLS:C4750782 Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261102 Distal 7q11.23 microduplication syndrome ORPHA:261102 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4750782 E (Exact mapping: the two concepts are equivalent) 9p deletion syndrome 9p- syndrome Alfi syndrome Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. Orphanet ICD-10:Q93.5 ICD-11:LD44.91 MeSH:C538024 OMIM:158170 UMLS:C0795830 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261112 Monosomy 9p syndrome ORPHA:261112 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.91 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538024 E (Exact mapping: the two concepts are equivalent) OMIM:158170 E (Exact mapping: the two concepts are equivalent) UMLS:C0795830 E (Exact mapping: the two concepts are equivalent) Del(14)(q11.2) Monosomy 14q11.2 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.E OMIM:613457 UMLS:C4304999 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261120 14q11.2 microdeletion syndrome ORPHA:261120 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613457 E (Exact mapping: the two concepts are equivalent) UMLS:C4304999 E (Exact mapping: the two concepts are equivalent) Del(14)(q12) Monosomy 14q12 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. Orphanet ICD-10:Q93.5 ICD-11:LD44.E Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261144 FOXG1 syndrome due to 14q12 microdeletion Clinical subtype ORPHA:261144 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). 15q11.2 BP1-BP2 microdeletion syndrome Del(15)(q11.2) Monosomy 15q11.2 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). Orphanet ICD-10:Q93.5 ICD-11:LD44.F OMIM:615656 UMLS:C4749854 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261183 15q11.2 microdeletion syndrome ORPHA:261183 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.F - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615656 E (Exact mapping: the two concepts are equivalent) UMLS:C4749854 E (Exact mapping: the two concepts are equivalent) 15q14 microdeletion syndrome Del(15)(q14) Monosomy 15q14 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.F OMIM:616898 UMLS:C4305230 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion Clinical subtype ORPHA:261190 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.F - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616898 E (Exact mapping: the two concepts are equivalent) UMLS:C4305230 E (Exact mapping: the two concepts are equivalent) Proximal del(16)(p11.2) Proximal monosomy 16p11.2 The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Orphanet ICD-10:Q93.5 ICD-11:LD44.G1 OMIM:611913 UMLS:C4273657 Autosomal dominant Not applicable Childhood Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261197 Proximal 16p11.2 microdeletion syndrome ORPHA:261197 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611913 E (Exact mapping: the two concepts are equivalent) UMLS:C4273657 E (Exact mapping: the two concepts are equivalent) Nevus sebaceus of Jadassohn Nevus sebaceus syndrome Organoid nevus syndrome Schimmelpenning syndrome Solomon syndrome A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system. Orphanet ICD-10:Q85.8 ICD-11:LD2D.Y MeSH:D054000 OMIM:163200 UMLS:C4552097 Not applicable Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2612 Linear nevus sebaceus syndrome ORPHA:2612 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054000 E (Exact mapping: the two concepts are equivalent) OMIM:163200 E (Exact mapping: the two concepts are equivalent) UMLS:C4552097 E (Exact mapping: the two concepts are equivalent) Dup(16)(p11.2p12.2) Trisomy 16p11.2p12.2 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Orphanet ICD-10:Q92.3 UMLS:C4518821 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261204 16p11.2p12.2 microduplication syndrome ORPHA:261204 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518821 E (Exact mapping: the two concepts are equivalent) Del(16)(p11.2p12.2) Monosomy 16p11.2p12.2 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.G1 OMIM:613604 UMLS:C4304597 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261211 16p11.2p12.2 microdeletion syndrome ORPHA:261211 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613604 E (Exact mapping: the two concepts are equivalent) UMLS:C4304597 E (Exact mapping: the two concepts are equivalent) Distal del(16)(p11.2) Distal monosomy 16p11.2 Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. Orphanet ICD-10:Q93.5 ICD-11:LD44.G1 OMIM:613444 UMLS:C4518824 Not applicable Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261222 Distal 16p11.2 microdeletion syndrome ORPHA:261222 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613444 E (Exact mapping: the two concepts are equivalent) UMLS:C4518824 E (Exact mapping: the two concepts are equivalent) Dup(14)(q11.2) Trisomy 14q11.2 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. Orphanet ICD-10:Q92.3 ICD-11:LD41.D UMLS:C4749855 Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261229 14q11.2 microduplication syndrome ORPHA:261229 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749855 E (Exact mapping: the two concepts are equivalent) Del(16)(p13.11) Monosomy 16p13.11 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Orphanet ICD-10:Q93.5 ICD-11:LD44.G1 UMLS:C4304596 Autosomal dominant Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261236 16p13.11 microdeletion syndrome ORPHA:261236 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304596 E (Exact mapping: the two concepts are equivalent) Dup(16)(p13.11) Trisomy 16p13.11 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Orphanet ICD-10:Q92.3 ICD-11:LD41.F1 UMLS:C4304595 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 162.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261243 16p13.11 microduplication syndrome ORPHA:261243 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.F1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304595 E (Exact mapping: the two concepts are equivalent) Del(16)(q24.3) Monosomy 16q24.3 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Orphanet ICD-10:Q93.5 ICD-11:LD44.G0 UMLS:C4304594 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261250 16q24.3 microdeletion syndrome ORPHA:261250 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304594 E (Exact mapping: the two concepts are equivalent) Distal del(17)(p13.3 ) Distal monosomy 17p13.3 Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. Orphanet ICD-10:Q93.5 ICD-11:LD44.H1 UMLS:C4707092 Not applicable Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261257 Distal 17p13.3 microdeletion syndrome ORPHA:261257 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.H1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707092 E (Exact mapping: the two concepts are equivalent) Del(17)(q12) Monosomy 17q12 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported. Orphanet ICD-10:Q93.5 ICD-11:LD44.H0 OMIM:614527 UMLS:C4518822 Not applicable Antenatal Infancy Neonatal Denmark AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 103.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261265 17q12 microdeletion syndrome ORPHA:261265 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.H0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614527 E (Exact mapping: the two concepts are equivalent) UMLS:C4518822 E (Exact mapping: the two concepts are equivalent) Dup(17)(q12) Trisomy 17q12 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. Orphanet ICD-10:Q92.3 ICD-11:LD41.G0 OMIM:614526 UMLS:C3281137 Antenatal Infancy Neonatal Denmark AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 118.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261272 17q12 microduplication syndrome ORPHA:261272 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614526 E (Exact mapping: the two concepts are equivalent) UMLS:C3281137 E (Exact mapping: the two concepts are equivalent) Del(17)(q23.1q23.2) Monosomy 17q23.1q23.2 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Orphanet ICD-10:Q93.5 ICD-11:LD44.H0 OMIM:613355 UMLS:C4304591 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261279 17q23.1q23.2 microdeletion syndrome ORPHA:261279 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.H0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613355 E (Exact mapping: the two concepts are equivalent) UMLS:C4304591 E (Exact mapping: the two concepts are equivalent) Dup(17p) Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Orphanet ICD-10:Q92.2 MeSH:C538048 UMLS:C0795865 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261290 Trisomy 17p syndrome ORPHA:261290 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538048 E (Exact mapping: the two concepts are equivalent) UMLS:C0795865 E (Exact mapping: the two concepts are equivalent) Del(20)(p12.3) Monosomy 20p12.3 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.L1 UMLS:C4304539 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261295 20p12.3 microdeletion syndrome ORPHA:261295 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.L1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304539 E (Exact mapping: the two concepts are equivalent) Salcedo syndrome A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils. Orphanet ICD-10:N07.8 MeSH:C537228 OMIM:256020 UMLS:C0403548 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2613 Nail-patella-like renal disease ORPHA:2613 ICD-10:N07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537228 E (Exact mapping: the two concepts are equivalent) OMIM:256020 E (Exact mapping: the two concepts are equivalent) UMLS:C0403548 E (Exact mapping: the two concepts are equivalent) Paternal del(20)(q13.2q13.3) Paternal monosomy 20q13.2q13.3 Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.L0 UMLS:C4510306 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261304 Paternal 20q13.2q13.3 microdeletion syndrome ORPHA:261304 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.L0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4510306 E (Exact mapping: the two concepts are equivalent) Del(20)(q13.33) Monosomy 20q13.33 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. Orphanet ICD-10:Q93.5 ICD-11:LD44.L0 UMLS:C4518823 Not applicable Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261311 20q13.33 microdeletion syndrome ORPHA:261311 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.L0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518823 E (Exact mapping: the two concepts are equivalent) Dup(20p) Duplication of 20p Partial duplication of chromosome 20p Partial duplication of the short arm of chromosome 20 Partial trisomy of chromosome 20p Partial trisomy of the short arm of chromosome 20 Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. Orphanet ICD-10:Q92.2 ICD-11:LD41.K1 MeSH:C535371 UMLS:C2930888 Not applicable Unknown Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261318 Trisomy 20p syndrome ORPHA:261318 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.K1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535371 E (Exact mapping: the two concepts are equivalent) UMLS:C2930888 E (Exact mapping: the two concepts are equivalent) Del(21)(q22.11q22.12) Monosomy 21q22.11q22.12 A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral &#64257;ssures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Orphanet ICD-10:Q93.5 ICD-11:LD44.M UMLS:C5192593 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261323 21q22.11q22.12 microdeletion syndrome ORPHA:261323 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.M - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5192593 E (Exact mapping: the two concepts are equivalent) Distal del(22)(q11.2) Distal monosomy 22q11.2 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>. Orphanet ICD-10:Q93.5 ICD-11:LD44.NY OMIM:611867 UMLS:C4518343 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261330 Distal 22q11.2 microdeletion syndrome ORPHA:261330 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.NY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611867 E (Exact mapping: the two concepts are equivalent) UMLS:C4518343 E (Exact mapping: the two concepts are equivalent) Distal dup(22)(q11.2) Distal trisomy 22q11.2 A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent. Orphanet ICD-10:Q92.3 ICD-11:LD41.M UMLS:C4706942 Autosomal dominant Antenatal Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261337 Distal 22q11.2 microduplication syndrome ORPHA:261337 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.M - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706942 E (Exact mapping: the two concepts are equivalent) Duplication 1q Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. Orphanet ICD-10:Q92.2 UMLS:C4708596 Antenatal Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261344 Trisomy 1q syndrome ORPHA:261344 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4708596 E (Exact mapping: the two concepts are equivalent) Del(2)(p15p16.1) Monosomy 2p15p16.1 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.21 OMIM:612513 UMLS:C4304538 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261349 2p15p16.1 microdeletion syndrome ORPHA:261349 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612513 E (Exact mapping: the two concepts are equivalent) UMLS:C4304538 E (Exact mapping: the two concepts are equivalent) JTA Non-giant cell granulomatous temporal arteritis with eosinophilia A rare vasculitis characterized by mostly unilateral inflammation of the temporal artery affecting patients up to fifty years of age. Patients typically present with a lump in the temporal region or a prominent temporal artery and often have headaches. Males are more frequently affected than females, and major systemic symptoms, ocular complications, and a biological inflammatory syndrome are usually absent, although peripheral blood eosinophilia may be seen. Histopathological analysis shows arteritis predominantly of the intima with possible extension to the perivascular tissue. The presence of granuloma, giant cells or fibrinoid necrosis is rare. Clinical relapses after one episode are uncommon. Orphanet ICD-10:L95.8 ICD-11:4A44.Y UMLS:C0751547 Unknown Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26137 Juvenile temporal arteritis ORPHA:26137 ICD-10:L95.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0751547 E (Exact mapping: the two concepts are equivalent) Onychoosteodysplasia Turner-Kieser syndrome A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Orphanet ICD-10:Q87.2 ICD-11:LD24.J0 MeSH:D009261 MedDRA:10063431 OMIM:161200 UMLS:C0027341 Autosomal dominant Childhood Infancy Neonatal Australia AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2614 Nail-patella syndrome ORPHA:2614 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.J0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009261 E (Exact mapping: the two concepts are equivalent) MedDRA:10063431 E (Exact mapping: the two concepts are equivalent) OMIM:161200 E (Exact mapping: the two concepts are equivalent) UMLS:C0027341 E (Exact mapping: the two concepts are equivalent) Complex GKD Complex glycerol kinase deficiency Del(X)(p21) Xp21 contiguous gene deletion syndrome Xp21 microdeletion syndrome A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Orphanet ICD-10:Q99.8 ICD-11:LD51 OMIM:300679 UMLS:C0795887 Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261476 Xp21 deletion syndrome ORPHA:261476 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300679 E (Exact mapping: the two concepts are equivalent) UMLS:C0795887 E (Exact mapping: the two concepts are equivalent) Dup(X)(q27.3q28) Trisomy Xq27.3-q28 Trisomy Xq27.3q28 Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. Orphanet ICD-10:Q99.8 ICD-11:LD51 OMIM:300869 UMLS:C4305103 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261483 Xq27.3q28 duplication syndrome ORPHA:261483 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300869 E (Exact mapping: the two concepts are equivalent) UMLS:C4305103 E (Exact mapping: the two concepts are equivalent) A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MedDRA:10079365 OMIM:610253 UMLS:C4551771 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 114.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261494 Kleefstra syndrome ORPHA:261494 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10079365 E (Exact mapping: the two concepts are equivalent) OMIM:610253 E (Exact mapping: the two concepts are equivalent) UMLS:C4551771 E (Exact mapping: the two concepts are equivalent) Amyotrophy-fat tissue anomaly syndrome Secondary hypertrophic osteoperiostosis with pernio This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Proteasome-associated autoinflammatory syndrome Nakajo-Nishimura syndrome ORPHA:2615 Atypical Norrie disease due to del(X)(p11.3) Atypical Norrie disease due to nullisomy Xp11.3 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. Orphanet ICD-10:H35.5 UMLS:C4518083 Not applicable Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261501 Atypical Norrie disease due to Xp11.3 microdeletion ORPHA:261501 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518083 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked intellectual disability-retinitis pigmentosa syndrome OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 ORPHA:261512 UPD(X)mat A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C5191056 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261519 Maternal uniparental disomy of chromosome X syndrome ORPHA:261519 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5191056 E (Exact mapping: the two concepts are equivalent) UPD(X)pat A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder. Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C5191049 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261524 Paternal uniparental disomy of chromosome X syndrome ORPHA:261524 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5191049 E (Exact mapping: the two concepts are equivalent) Ring chromosome Y r(Y) A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. Orphanet ICD-10:Q98.6 ICD-11:LD53 UMLS:C4706450 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261529 Ring chromosome Y syndrome ORPHA:261529 ICD-10:Q98.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD53 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706450 E (Exact mapping: the two concepts are equivalent) 49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated. Orphanet ICD-10:Q98.8 UMLS:C4749586 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261534 49,XXXYY syndrome ORPHA:261534 ICD-10:Q98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749586 E (Exact mapping: the two concepts are equivalent) Hirschsprung disease and intellectual disability due to 2q22 microdeletion Hirschsprung disease and intellectual disability due to del(2)(q22) Hirschsprung disease and intellectual disability due to monosomy 2q22 Mowat-Wilson syndrome due to 2q22 microdeletion Mowat-Wilson syndrome due to del(2)q(22) ICD-10:Q43.1 ICD-11:LD2F.1Y OMIM:235730 UMLS:C5437617 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261537 Mowat-Wilson syndrome due to monosomy 2q22 Etiological subtype ORPHA:261537 ICD-10:Q43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:235730 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5437617 E (Exact mapping: the two concepts are equivalent) Hirschsprung disease and intellectual disability due to a ZEB2 point mutation ICD-10:Q43.1 ICD-11:LD2F.1Y OMIM:235730 UMLS:C5679681 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261552 Mowat-Wilson syndrome due to a ZEB2 point mutation Etiological subtype ORPHA:261552 ICD-10:Q43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:235730 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679681 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome ORPHA:261559 OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome ORPHA:261572 OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations ORPHA:261579 Colorectal adenomatous polyposis due to monosomy 5q22.2 FAP due to monosomy 5q22.2 Familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 ICD-10:D12.6 ICD-11:2B90.Y UMLS:C5548205 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261584 Familial adenomatous polyposis due to 5q22.2 microdeletion Etiological subtype ORPHA:261584 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5548205 E (Exact mapping: the two concepts are equivalent) 3-M syndrome Yakut short stature syndrome A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. Orphanet ICD-10:Q87.1 ICD-11:LD24.D MeSH:C535314 MedDRA:10081775 OMIM:273750 OMIM:612921 OMIM:614205 UMLS:C1848862 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2616 3M syndrome ORPHA:2616 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535314 E (Exact mapping: the two concepts are equivalent) MedDRA:10081775 E (Exact mapping: the two concepts are equivalent) OMIM:273750 E (Exact mapping: the two concepts are equivalent) OMIM:612921 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614205 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1848862 E (Exact mapping: the two concepts are equivalent) Alagille syndrome due to del(20)(p12) Alagille syndrome due to monosomy 20p12 Alagille-Watson syndrome due to monosomy 20p12 Arteriohepatic dysplasia due to monosomy 20p12 Syndromic bile duct paucity due to monosomy 20p12 ICD-10:Q44.7 ICD-11:LB20.0Y OMIM:118450 UMLS:C5679679 Not applicable Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261600 Alagille syndrome due to 20p12 microdeletion Etiological subtype ORPHA:261600 ICD-10:Q44.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:118450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679679 E (Exact mapping: the two concepts are equivalent) Alagille-Watson syndrome due to a JAG1 point mutation Arteriohepatic dysplasia due to a JAG1 point mutation Syndromic bile duct paucity due to a JAG1 point mutation ICD-10:Q44.7 ICD-11:LB20.0Y OMIM:118450 UMLS:C5679680 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261619 Alagille syndrome due to a JAG1 point mutation Etiological subtype ORPHA:261619 ICD-10:Q44.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:118450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679680 E (Exact mapping: the two concepts are equivalent) Alagille-Watson syndrome due to a NOTCH2 point mutation Arteriohepatic dysplasia due to a NOTCH2 point mutation Syndromic bile duct paucity due to a NOTCH2 point mutation ICD-10:Q44.7 ICD-11:LB20.0Y OMIM:610205 UMLS:C1857761 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261629 Alagille syndrome due to a NOTCH2 point mutation Etiological subtype ORPHA:261629 ICD-10:Q44.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610205 E (Exact mapping: the two concepts are equivalent) UMLS:C1857761 E (Exact mapping: the two concepts are equivalent) Duane-radial ray syndrome due to monosomy 20q13 Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to monosomy 20q13 ICD-10:Q87.8 ICD-11:LD44.L0 OMIM:607323 UMLS:C5679682 Not applicable Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261638 Okihiro syndrome due to 20q13 microdeletion Etiological subtype ORPHA:261638 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.L0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607323 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679682 E (Exact mapping: the two concepts are equivalent) Duane-radial ray syndrome due to a point mutation ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:607323 UMLS:C5679683 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261647 Okihiro syndrome due to a point mutation Etiological subtype ORPHA:261647 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607323 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679683 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:610253 OMIM:617768 UMLS:C5680724 Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261652 Kleefstra syndrome due to a point mutation Etiological subtype ORPHA:261652 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610253 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:617768 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680724 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Anomaly of chromosome 1 ORPHA:261697 Bird-headed dwarfism, Montreal type A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. Orphanet ICD-10:Q87.1 MeSH:C535448 OMIM:210700 UMLS:C1859468 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2617 Microcephalic primordial dwarfism, Montreal type ORPHA:2617 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535448 E (Exact mapping: the two concepts are equivalent) OMIM:210700 E (Exact mapping: the two concepts are equivalent) UMLS:C1859468 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Anomaly of chromosome 2 ORPHA:261700 OBSOLETE: Anomaly of chromosome 3 ORPHA:261703 OBSOLETE: Anomaly of chromosome 4 ORPHA:261706 OBSOLETE: Anomaly of chromosome 5 ORPHA:261709 OBSOLETE: Anomaly of chromosome 6 ORPHA:261712 OBSOLETE: Anomaly of chromosome 7 ORPHA:261715 OBSOLETE: Anomaly of chromosome 8 ORPHA:261718 OBSOLETE: Anomaly of chromosome 9 ORPHA:261721 OBSOLETE: Anomaly of chromosome 10 ORPHA:261724 OBSOLETE: Anomaly of chromosome 11 ORPHA:261730 OBSOLETE: Anomaly of chromosome 12 ORPHA:261733 OBSOLETE: Anomaly of chromosome 13 ORPHA:261736 OBSOLETE: Anomaly of chromosome 14 ORPHA:261739 OBSOLETE: Anomaly of chromosome 15 ORPHA:261742 OBSOLETE: Anomaly of chromosome 16 ORPHA:261745 OBSOLETE: Anomaly of chromosome 17 ORPHA:261748 OBSOLETE: Anomaly of chromosome 18 ORPHA:261751 OBSOLETE: Anomaly of chromosome 19 ORPHA:261754 OBSOLETE: Anomaly of chromosome 20 ORPHA:261757 OBSOLETE: Anomaly of chromosome 21 ORPHA:261760 OBSOLETE: Anomaly of chromosome 22 ORPHA:261763 Partial monosomy of chromosome 1 UMLS:C5679647 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261766 Partial deletion of chromosome 1 syndrome Category ORPHA:261766 UMLS:C5679647 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 2 UMLS:C5679650 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261771 Partial deletion of chromosome 2 syndrome Category ORPHA:261771 UMLS:C5679650 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 3 UMLS:C5679651 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261776 Partial deletion of chromosome 3 syndrome Category ORPHA:261776 UMLS:C5679651 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 4 UMLS:C5679648 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261781 Partial deletion of chromosome 4 syndrome Category ORPHA:261781 UMLS:C5679648 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 5 UMLS:C5679649 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261786 Partial deletion of chromosome 5 syndrome Category ORPHA:261786 UMLS:C5679649 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 6 UMLS:C5679654 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261791 Partial deletion of chromosome 6 syndrome Category ORPHA:261791 UMLS:C5679654 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 7 UMLS:C5679655 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261796 Partial deletion of chromosome 7 syndrome Category ORPHA:261796 UMLS:C5679655 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 8 UMLS:C5679652 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261801 Partial deletion of chromosome 8 syndrome Category ORPHA:261801 UMLS:C5679652 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 9 UMLS:C5679653 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261806 Partial deletion of chromosome 9 syndrome Category ORPHA:261806 UMLS:C5679653 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 10 UMLS:C5679658 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261811 Partial deletion of chromosome 10 syndrome Category ORPHA:261811 UMLS:C5679658 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 11 UMLS:C5679659 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261816 Partial deletion of chromosome 11 syndrome Category ORPHA:261816 UMLS:C5679659 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 12q Partial monosomy of chromosome 12q Partial monosomy of the long arm of chromosome 12 ICD-11:LD44.C0 UMLS:C5679656 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261821 Partial deletion of the long arm of chromosome 12 syndrome Category ORPHA:261821 ICD-11:LD44.C0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679656 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 16 UMLS:C5679657 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261826 Partial deletion of chromosome 16 syndrome Category ORPHA:261826 UMLS:C5679657 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 17 UMLS:C5679661 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261831 Partial deletion of chromosome 17 syndrome Category ORPHA:261831 UMLS:C5679661 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 18 UMLS:C5679660 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261836 Partial deletion of chromosome 18 syndrome Category ORPHA:261836 UMLS:C5679660 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 19 UMLS:C5679663 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261841 Partial deletion of chromosome 19 syndrome Category ORPHA:261841 UMLS:C5679663 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 20 UMLS:C5679662 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261846 Partial deletion of chromosome 20 syndrome Category ORPHA:261846 UMLS:C5679662 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 1p Partial monosomy of chromosome 1p Partial monosomy of the short arm of chromosome 1 ICD-11:LD44.11 MeSH:C535591 UMLS:C0795796 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261857 Partial deletion of the short arm of chromosome 1 syndrome Category ORPHA:261857 ICD-11:LD44.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535591 E (Exact mapping: the two concepts are equivalent) UMLS:C0795796 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 2p Partial monosomy of chromosome 2p Partial monosomy of the short arm of chromosome 2 ICD-11:LD44.21 UMLS:C5679664 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261866 Partial deletion of the short arm of chromosome 2 syndrome Category ORPHA:261866 ICD-11:LD44.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679664 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 3p Partial monosomy of chromosome 3p Partial monosomy of the short arm of chromosome 3 ICD-11:LD44.31 UMLS:C5679666 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261875 Partial deletion of the short arm of chromosome 3 syndrome Category ORPHA:261875 ICD-11:LD44.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679666 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 4p Partial monosomy of chromosome 4p Partial monosomy of the short arm of chromosome 4 ICD-11:LD44.41 UMLS:C5679665 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261884 Partial deletion of the short arm of chromosome 4 syndrome Category ORPHA:261884 ICD-11:LD44.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679665 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 5p Partial monosomy of chromosome 5p Partial monosomy of the short arm of chromosome 5 ICD-11:LD44.51 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261893 Partial deletion of the short arm of chromosome 5 syndrome Category ORPHA:261893 ICD-11:LD44.51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Mseleni joint disease A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C537086 OMIM:613342 UMLS:C2931420 Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2619 Brachydactylous dwarfism, Mseleni type ORPHA:2619 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537086 E (Exact mapping: the two concepts are equivalent) OMIM:613342 E (Exact mapping: the two concepts are equivalent) UMLS:C2931420 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 6p Partial monosomy of chromosome 6p Partial monosomy of the short arm of chromosome 6 ICD-11:LD44.61 UMLS:C5679667 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261902 Partial deletion of the short arm of chromosome 6 syndrome Category ORPHA:261902 ICD-11:LD44.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679667 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 7p Partial monosomy of chromosome 7p Partial monosomy of the short arm of chromosome 7 ICD-11:LD44.71 UMLS:C5679668 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261911 Partial deletion of the short arm of chromosome 7 syndrome Category ORPHA:261911 ICD-11:LD44.71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679668 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 8p Partial monosomy of chromosome 8p Partial monosomy of the short arm of chromosome 8 ICD-11:LD44.81 MeSH:C537826 UMLS:C2931635 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261920 Partial deletion of the short arm of chromosome 8 syndrome Category ORPHA:261920 ICD-11:LD44.81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537826 E (Exact mapping: the two concepts are equivalent) UMLS:C2931635 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 9p Partial monosomy of chromosome 9p Partial monosomy of the short arm of chromosome 9 ICD-11:LD44.91 UMLS:C5679669 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261929 Partial deletion of the short arm of chromosome 9 syndrome Category ORPHA:261929 ICD-11:LD44.91 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679669 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 10p Partial monosomy of chromosome 10p Partial monosomy of the short arm of chromosome 10 ICD-11:LD44.A1 MeSH:C538288 UMLS:C0795836 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261938 Partial deletion of the short arm of chromosome 10 syndrome Category ORPHA:261938 ICD-11:LD44.A1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538288 E (Exact mapping: the two concepts are equivalent) UMLS:C0795836 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 11p Partial monosomy of chromosome 11p Partial monosomy of the short arm of chromosome 11 ICD-11:LD44.B1 MeSH:C538295 UMLS:C2931801 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261947 Partial deletion of the short arm of chromosome 11 syndrome Category ORPHA:261947 ICD-11:LD44.B1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538295 E (Exact mapping: the two concepts are equivalent) UMLS:C2931801 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 16p Partial monosomy of chromosome 16p Partial monosomy of the short arm of chromosome 16 ICD-11:LD44.G1 UMLS:C5679670 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261956 Partial deletion of the short arm of chromosome 16 syndrome Category ORPHA:261956 ICD-11:LD44.G1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679670 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 17p Partial monosomy of chromosome 17p Partial monosomy of the short arm of chromosome 17 ICD-11:LD44.H1 UMLS:C5679671 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261965 Partial deletion of the short arm of chromosome 17 syndrome Category ORPHA:261965 ICD-11:LD44.H1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679671 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 18p Partial monosomy of chromosome 18p Partial monosomy of the short arm of chromosome 18 ICD-11:LD44.J1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261974 Partial deletion of the short arm of chromosome 18 syndrome Category ORPHA:261974 ICD-11:LD44.J1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Partial deletion of chromosome 19p Partial monosomy of chromosome 19p Partial monosomy of the short arm of chromosome 19 ICD-11:LD44.K1 UMLS:C5679672 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261983 Partial deletion of the short arm of chromosome 19 syndrome Category ORPHA:261983 ICD-11:LD44.K1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679672 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 20p Partial monosomy of chromosome 20p Partial monosomy of the short arm of chromosome 20 Pure partial 20p deletion ICD-11:LD44.L1 UMLS:C5679673 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261992 Partial deletion of the short arm of chromosome 20 syndrome Category ORPHA:261992 ICD-11:LD44.L1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679673 E (Exact mapping: the two concepts are equivalent) Severe dystrophinopathy, Duchenne and Becker type A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females. Orphanet UMLS:C3542021 X-linked recessive Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262 Duchenne and Becker muscular dystrophy Clinical group ORPHA:262 UMLS:C3542021 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 1q Partial monosomy of chromosome 1q Partial monosomy of the long arm of chromosome 1 ICD-11:LD44.10 UMLS:C5679674 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262001 Partial deletion of the long arm of chromosome 1 syndrome Category ORPHA:262001 ICD-11:LD44.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679674 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 2q Partial monosomy of chromosome 2q Partial monosomy of the long arm of chromosome 2 ICD-11:LD44.20 MeSH:C538315 UMLS:C0795804 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262010 Partial deletion of the long arm of chromosome 2 syndrome Category ORPHA:262010 ICD-11:LD44.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538315 E (Exact mapping: the two concepts are equivalent) UMLS:C0795804 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 3q Partial monosomy of chromosome 3q Partial monosomy of the long arm of chromosome 3 ICD-11:LD44.30 UMLS:C5679675 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262019 Partial deletion of the long arm of chromosome 3 syndrome Category ORPHA:262019 ICD-11:LD44.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679675 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 4q Partial monosomy of chromosome 4q Partial monosomy of the long arm of chromosome 4 ICD-11:LD44.40 MeSH:C537639 UMLS:C0265404 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262029 Partial deletion of the long arm of chromosome 4 syndrome Category ORPHA:262029 ICD-11:LD44.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537639 E (Exact mapping: the two concepts are equivalent) UMLS:C0265404 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 5q Partial monosomy of chromosome 5q Partial monosomy of the long arm of chromosome 5 ICD-11:LD44.50 MeSH:C535323 UMLS:C0740302 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262038 Partial deletion of the long arm of chromosome 5 syndrome Category ORPHA:262038 ICD-11:LD44.50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535323 E (Exact mapping: the two concepts are equivalent) UMLS:C0740302 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 6q Partial monosomy of chromosome 6q Partial monosomy of the long arm of chromosome 6 ICD-11:LD44.60 MeSH:C537807 UMLS:C0795816 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262047 Partial deletion of the long arm of chromosome 6 syndrome Category ORPHA:262047 ICD-11:LD44.60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537807 E (Exact mapping: the two concepts are equivalent) UMLS:C0795816 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 7q Partial monosomy of chromosome 7q Partial monosomy of the long arm of chromosome 7 ICD-11:LD44.70 UMLS:C5679676 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262056 Partial deletion of the long arm of chromosome 7 syndrome Category ORPHA:262056 ICD-11:LD44.70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679676 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 8q Partial monosomy of chromosome 8q Partial monosomy of the long arm of chromosome 8 ICD-11:LD44.80 MeSH:C537828 UMLS:C0795828 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262065 Partial deletion of the long arm of chromosome 8 syndrome Category ORPHA:262065 ICD-11:LD44.80 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537828 E (Exact mapping: the two concepts are equivalent) UMLS:C0795828 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 9q Partial monosomy of chromosome 9q Partial monosomy of the long arm of chromosome 9 ICD-11:LD44.90 UMLS:C5679677 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262074 Partial deletion of the long arm of chromosome 9 syndrome Category ORPHA:262074 ICD-11:LD44.90 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679677 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 10q Partial monosomy of chromosome 10q Partial monosomy of the long arm of chromosome 10 ICD-11:LD44.A0 MeSH:C538289 UMLS:C0795839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262083 Partial deletion of the long arm of chromosome 10 syndrome Category ORPHA:262083 ICD-11:LD44.A0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538289 E (Exact mapping: the two concepts are equivalent) UMLS:C0795839 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 11q Partial monosomy of chromosome 11q Partial monosomy of the long arm of chromosome 11 ICD-11:LD44.B0 MeSH:C538296 UMLS:C2931804 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262092 Partial deletion of the long arm of chromosome 11 syndrome Category ORPHA:262092 ICD-11:LD44.B0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538296 E (Exact mapping: the two concepts are equivalent) UMLS:C2931804 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Christian-Rosenberg syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Other immunodeficiency syndrome with predominantly antibody defects OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome ORPHA:2621 Partial deletion of chromosome 13q Partial monosomy of chromosome 13q Partial monosomy of the long arm of chromosome 13 MeSH:C535484 UMLS:C0265451 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262101 Partial deletion of the long arm of chromosome 13 syndrome Category ORPHA:262101 MeSH:C535484 E (Exact mapping: the two concepts are equivalent) UMLS:C0265451 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 14q Partial monosomy of chromosome 14q Partial monosomy of the long arm of chromosome 14 MeSH:C538031 UMLS:C2931697 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262110 Partial deletion of the long arm of chromosome 14 syndrome Category ORPHA:262110 MeSH:C538031 E (Exact mapping: the two concepts are equivalent) UMLS:C2931697 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 15q Partial monosomy of chromosome 15q Partial monosomy of the long arm of chromosome 15 MeSH:C538038 UMLS:C2931708 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262119 Partial deletion of the long arm of chromosome 15 syndrome Category ORPHA:262119 MeSH:C538038 E (Exact mapping: the two concepts are equivalent) UMLS:C2931708 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 16q Partial monosomy of chromosome 16q Partial monosomy of the long arm of chromosome 16 ICD-11:LD44.G0 UMLS:C4736186 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262128 Partial deletion of the long arm of chromosome 16 syndrome Category ORPHA:262128 ICD-11:LD44.G0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736186 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 17q Partial monosomy of chromosome 17q Partial monosomy of the long arm of chromosome 17 ICD-11:LD44.H0 UMLS:C5679727 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262137 Partial deletion of the long arm of chromosome 17 syndrome Category ORPHA:262137 ICD-11:LD44.H0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679727 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 18q Partial monosomy of chromosome 18q Partial monosomy of the long arm of chromosome 18 ICD-11:LD44.J0 UMLS:C5679728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262146 Partial deletion of the long arm of chromosome 18 syndrome Category ORPHA:262146 ICD-11:LD44.J0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679728 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 19q Partial monosomy of chromosome 19q Partial monosomy of the long arm of chromosome 19 ICD-11:LD44.K0 UMLS:C5679729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262155 Partial deletion of the long arm of chromosome 19 syndrome Category ORPHA:262155 ICD-11:LD44.K0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679729 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 20q Partial monosomy of chromosome 20q Partial monosomy of the long arm of chromosome 20 ICD-11:LD44.L0 UMLS:C5679730 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262164 Partial deletion of the long arm of chromosome 20 syndrome Category ORPHA:262164 ICD-11:LD44.L0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679730 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 21q Partial monosomy of chromosome 21q Partial monosomy of the long arm of chromosome 21 ICD-11:LD44.M UMLS:C5679731 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262173 Partial deletion of the long arm of chromosome 21 syndrome Category ORPHA:262173 ICD-11:LD44.M - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679731 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 22q Partial monosomy of chromosome 22q Partial monosomy of the long arm of chromosome 22 UMLS:C5679725 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262182 Partial deletion of the long arm of chromosome 22 syndrome Category ORPHA:262182 UMLS:C5679725 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 1 UMLS:C4518488 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262191 Partial duplication of chromosome 1 syndrome Category ORPHA:262191 UMLS:C4518488 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 2 UMLS:C4518490 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262196 Partial duplication of chromosome 2 syndrome Category ORPHA:262196 UMLS:C4518490 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 3 UMLS:C4518491 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262201 Partial duplication of chromosome 3 syndrome Category ORPHA:262201 UMLS:C4518491 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 4 UMLS:C4518492 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262206 Partial duplication of chromosome 4 syndrome Category ORPHA:262206 UMLS:C4518492 E (Exact mapping: the two concepts are equivalent) Partial trisomy/tetrasomy of chromosome 5 UMLS:C5816686 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262211 Partial duplication/triplication of chromosome 5 syndrome Category ORPHA:262211 UMLS:C5816686 E (Exact mapping: the two concepts are equivalent) Geleophysic dwarfism A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). Orphanet ICD-10:Q87.1 ICD-11:LD24.8Y MedDRA:10063361 OMIM:231050 OMIM:614185 OMIM:617809 UMLS:C3489726 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2623 Geleophysic dysplasia ORPHA:2623 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10063361 E (Exact mapping: the two concepts are equivalent) OMIM:231050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614185 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617809 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3489726 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Blethen-Wenick-Hawkins syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome ORPHA:2626 Partial trisomy of chromosome 6 UMLS:C4518495 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262628 Partial duplication of chromosome 6 syndrome Category ORPHA:262628 UMLS:C4518495 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 7 UMLS:C4518496 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262633 Partial duplication of chromosome 7 syndrome Category ORPHA:262633 UMLS:C4518496 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 8 MeSH:C537941 UMLS:C2931671 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262638 Partial duplication of chromosome 8 syndrome Category ORPHA:262638 MeSH:C537941 E (Exact mapping: the two concepts are equivalent) UMLS:C2931671 E (Exact mapping: the two concepts are equivalent) Partial trisomy/tetrasomy of chromosome 9 UMLS:C5816685 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262643 Partial duplication/triplication of chromosome 9 syndrome Category ORPHA:262643 UMLS:C5816685 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 10 UMLS:C4518498 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262648 Partial duplication of chromosome 10 syndrome Category ORPHA:262648 UMLS:C4518498 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 11 ICD-11:LD41.A UMLS:C4518499 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262653 Partial duplication of chromosome 11 syndrome Category ORPHA:262653 ICD-11:LD41.A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4518499 E (Exact mapping: the two concepts are equivalent) Partial duplication/triplication of chromosome 12p Partial trisomy/tetrasomy of chromosome 12p Partial trisomy/tetrasomy of the short arm of chromosome 12 UMLS:C5679724 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262658 Partial duplication/triplication of the short arm of chromosome 12 syndrome Category ORPHA:262658 UMLS:C5679724 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 16 UMLS:C4518504 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262672 Partial duplication of chromosome 16 syndrome Category ORPHA:262672 UMLS:C4518504 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 17 UMLS:C4518505 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262677 Partial duplication of chromosome 17 syndrome Category ORPHA:262677 UMLS:C4518505 E (Exact mapping: the two concepts are equivalent) Partial trisomy/tetrasomy of chromosome 18 UMLS:C5816684 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262682 Partial duplication/triplication of chromosome 18 syndrome Category ORPHA:262682 UMLS:C5816684 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 19 UMLS:C4518507 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262687 Partial duplication of chromosome 19 syndrome Category ORPHA:262687 UMLS:C4518507 E (Exact mapping: the two concepts are equivalent) Partial trisomy of chromosome 20 UMLS:C4518509 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262692 Partial duplication of chromosome 20 syndrome Category ORPHA:262692 UMLS:C4518509 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 2p Partial trisomy of chromosome 2p ICD-11:LD41.11 UMLS:C5679718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262698 Partial duplication of the short arm of chromosome 2 syndrome Category ORPHA:262698 ICD-11:LD41.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679718 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 3p Partial trisomy of chromosome 3p Partial trisomy of the short arm of chromosome 3 ICD-11:LD41.21 UMLS:C5679720 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262707 Partial duplication of the short arm of chromosome 3 syndrome Category ORPHA:262707 ICD-11:LD41.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679720 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 4p Partial trisomy of chromosome 4p Partial trisomy of the short arm of chromosome 4 ICD-11:LD41.31 UMLS:C5679719 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262716 Partial duplication of the short arm of chromosome 4 syndrome Category ORPHA:262716 ICD-11:LD41.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679719 E (Exact mapping: the two concepts are equivalent) Partial duplication/triplication of chromosome 5p Partial trisomy/tetrasomy of chromosome 5p Partial trisomy/tetrasomy of the short arm of chromosome 5 UMLS:C5679722 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262725 Partial duplication/triplication of the short arm of chromosome 5 syndrome Category ORPHA:262725 UMLS:C5679722 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 6p Partial trisomy of chromosome 6p Partial trisomy of the short arm of chromosome 6 ICD-11:LD41.51 UMLS:C5679721 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262740 Partial duplication of the short arm of chromosome 6 syndrome Category ORPHA:262740 ICD-11:LD41.51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679721 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 7p Partial trisomy of chromosome 7p Partial trisomy of the short arm of chromosome 7 ICD-11:LD41.61 UMLS:C5679713 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262749 Partial duplication of the short arm of chromosome 7 syndrome Category ORPHA:262749 ICD-11:LD41.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679713 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 8p Partial trisomy of chromosome 8p Partial trisomy of the short arm of chromosome 8 ICD-11:LD41.71 UMLS:C4708597 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262758 Partial duplication of the short arm of chromosome 8 syndrome Category ORPHA:262758 ICD-11:LD41.71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4708597 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 9p Partial duplication of the short arm of chromosome 9 Partial tetrasomy of chromosome 9p Partial triplication of chromosome 9p Partial trisomy of chromosome 9p Partial trisomy/tetrasomy of the short arm of chromosome 9 UMLS:C5679711 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262767 Partial duplication/triplication of the short arm of chromosome 9 syndrome Category ORPHA:262767 UMLS:C5679711 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 10p Partial trisomy of chromosome 10p Partial trisomy of the short arm of chromosome 10 ICD-11:LD41.91 UMLS:C5679712 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262776 Partial duplication of the short arm of chromosome 10 syndrome Category ORPHA:262776 ICD-11:LD41.91 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679712 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 11p Partial trisomy of chromosome 11p Partial trisomy of the short arm of chromosome 11 UMLS:C5679716 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262785 Partial duplication of the short arm of chromosome 11 syndrome Category ORPHA:262785 UMLS:C5679716 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 16p Partial trisomy of chromosome 16p Partial trisomy of the short arm of chromosome 16 ICD-11:LD41.F1 UMLS:C5566360 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262794 Partial duplication of the short arm of chromosome 16 syndrome Category ORPHA:262794 ICD-11:LD41.F1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5566360 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 17p Partial trisomy of chromosome 17p Partial trisomy of the short arm of chromosome 17 ICD-11:LD41.G1 UMLS:C5679714 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262803 Partial duplication of the short arm of chromosome 17 syndrome Category ORPHA:262803 ICD-11:LD41.G1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679714 E (Exact mapping: the two concepts are equivalent) Partial duplication/triplication of chromosome 18p Partial trisomy/tetrasomy of chromosome 18p Partial trisomy/tetrasomy of the short arm of chromosome 18 UMLS:C5679715 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262812 Partial duplication/triplication of the short arm of chromosome 18 syndrome Category ORPHA:262812 UMLS:C5679715 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 1q Partial trisomy of chromosome 1q Partial trisomy of the long arm of chromosome 1 ICD-11:LD41.00 UMLS:C4708598 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262833 Partial duplication of the long arm of chromosome 1 syndrome Category ORPHA:262833 ICD-11:LD41.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4708598 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 2q Partial trisomy of chromosome 2q Partial trisomy of the long arm of chromosome 2 ICD-11:LD41.10 UMLS:C5679706 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262842 Partial duplication of the long arm of chromosome 2 syndrome Category ORPHA:262842 ICD-11:LD41.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679706 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 3q Partial trisomy of chromosome 3q ICD-11:LD41.20 UMLS:C5679707 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262851 Partial duplication of the long arm of chromosome 3 syndrome Category ORPHA:262851 ICD-11:LD41.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679707 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 4q Partial trisomy of chromosome 4q Partial trisomy of the long arm of chromosome 4 ICD-11:LD41.30 UMLS:C5679710 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262860 Partial duplication of the long arm of chromosome 4 syndrome Category ORPHA:262860 ICD-11:LD41.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679710 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 5q Partial trisomy of chromosome 5q Partial trisomy of the long arm of chromosome 5 ICD-11:LD41.40 UMLS:C4518494 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262869 Partial duplication of the long arm of chromosome 5 syndrome Category ORPHA:262869 ICD-11:LD41.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4518494 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 6q Partial trisomy of chromosome 6q Partial trisomy of the long arm of chromosome 6 ICD-11:LD41.50 UMLS:C5679708 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262878 Partial duplication of the long arm of chromosome 6 syndrome Category ORPHA:262878 ICD-11:LD41.50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679708 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 7q Partial trisomy of chromosome 7q Partial trisomy of the long arm of chromosome 7 ICD-11:LD41.60 UMLS:C5679709 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262887 Partial duplication of the long arm of chromosome 7 syndrome Category ORPHA:262887 ICD-11:LD41.60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679709 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 8q Partial trisomy of chromosome 8q Partial trisomy of the long arm of chromosome 8 ICD-11:LD41.70 UMLS:C5679703 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262896 Partial duplication of the long arm of chromosome 8 syndrome Category ORPHA:262896 ICD-11:LD41.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679703 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 9q Partial trisomy of chromosome 9q Partial trisomy of the long arm of chromosome 9 ICD-11:LD41.81 UMLS:C5679702 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262905 Partial duplication of the long arm of chromosome 9 syndrome Category ORPHA:262905 ICD-11:LD41.81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679702 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 10q Partial trisomy of chromosome 10q Partial trisomy of the long arm of chromosome 10 ICD-11:LD41.90 UMLS:C5679701 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262914 Partial duplication of the long arm of chromosome 10 syndrome Category ORPHA:262914 ICD-11:LD41.90 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679701 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 11q Partial trisomy of chromosome 11q Partial trisomy of the long arm of chromosome 11 UMLS:C5679700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262923 Partial duplication of the long arm of chromosome 11 syndrome Category ORPHA:262923 UMLS:C5679700 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 13q Partial trisomy of chromosome 13q Partial trisomy of the long arm of chromosome 13 ICD-11:LD41.C UMLS:C5679705 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262932 Partial duplication of the long arm of chromosome 13 syndrome Category ORPHA:262932 ICD-11:LD41.C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679705 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 14q Partial trisomy of chromosome 14q Partial trisomy of the long arm of chromosome 14 ICD-11:LD41.D UMLS:C5679704 Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262941 Partial duplication of the long arm of chromosome 14 syndrome Category ORPHA:262941 ICD-11:LD41.D - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679704 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 15q Partial trisomy of chromosome 15q Partial trisomy of the long arm of chromosome 15 ICD-11:LD41.E UMLS:C5566335 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262950 Partial duplication of the long arm of chromosome 15 syndrome Category ORPHA:262950 ICD-11:LD41.E - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5566335 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 16q Partial trisomy of chromosome 16q Partial trisomy of the long arm of chromosome 16 ICD-11:LD41.F0 UMLS:C5566361 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262959 Partial duplication of the long arm of chromosome 16 syndrome Category ORPHA:262959 ICD-11:LD41.F0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5566361 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 17q Partial trisomy of chromosome 17q Partial trisomy of the long arm of chromosome 17 ICD-11:LD41.G0 UMLS:C5679698 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262968 Partial duplication of the long arm of chromosome 17 syndrome Category ORPHA:262968 ICD-11:LD41.G0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679698 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 18q Partial trisomy of chromosome 18q Partial trisomy of the long arm of chromosome 18 ICD-11:LD41.H0 UMLS:C5679697 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262977 Partial duplication of the long arm of chromosome 18 syndrome Category ORPHA:262977 ICD-11:LD41.H0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679697 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 19q Partial trisomy of chromosome 19q Partial trisomy of the long arm of chromosome 19 ICD-11:LD41.J0 UMLS:C5679696 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262986 Partial duplication of the long arm of chromosome 19 syndrome Category ORPHA:262986 ICD-11:LD41.J0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679696 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 20q Partial trisomy of chromosome 20q Partial trisomy of the long arm of chromosome 20 ICD-11:LD41.K0 UMLS:C5679695 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262995 Partial duplication of the long arm of chromosome 20 syndrome Category ORPHA:262995 ICD-11:LD41.K0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679695 E (Exact mapping: the two concepts are equivalent) LGMD Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. Orphanet ICD-11:8C70.4 MeSH:D049288 UMLS:C0686353 Autosomal dominant Autosomal recessive All ages Egypt AND has_lifetime_prevalence_average_value : 5.7 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.55 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 0.81 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 6.9 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 2.27 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.32 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263 Limb-girdle muscular dystrophy Clinical group ORPHA:263 ICD-11:8C70.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D049288 E (Exact mapping: the two concepts are equivalent) UMLS:C0686353 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 22q Partial trisomy of chromosome 22q Partial trisomy of the long arm of chromosome 22 ICD-11:LD41.M UMLS:C5679699 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263004 Partial duplication of the long arm of chromosome 22 syndrome Category ORPHA:263004 ICD-11:LD41.M - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679699 E (Exact mapping: the two concepts are equivalent) OBSOLETE: UPD(1) OBSOLETE: Uniparental disomy of chromosome 1 ORPHA:263019 OBSOLETE: UPD(6) OBSOLETE: Uniparental disomy of chromosome 6 ORPHA:263024 OBSOLETE: UPD(7) OBSOLETE: Uniparental disomy of chromosome 7 ORPHA:263029 OBSOLETE: UPD(11) OBSOLETE: Uniparental disomy of chromosome 11 ORPHA:263034 OBSOLETE: UPD(13) OBSOLETE: Uniparental disomy of chromosome 13 ORPHA:263044 OBSOLETE: UPD(14) OBSOLETE: Uniparental disomy of chromosome 14 ORPHA:263049 OBSOLETE: UPD(15) OBSOLETE: Uniparental disomy of chromosome 15 ORPHA:263054 OBSOLETE: UPD(20) OBSOLETE: Uniparental disomy of chromosome 20 ORPHA:263059 OBSOLETE: UPD(21) OBSOLETE: Uniparental disomy of chromosome 21 ORPHA:263064 Mesomelic dysplasia, Kozlowski-Reardon type Mesomelic dysplasia, Reardon type Reardon-Hall-Slaney syndrome A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Orphanet ICD-10:Q78.8 ICD-11:LD24.A MeSH:C535294 OMIM:249710 UMLS:C2930871 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535294 E (Exact mapping: the two concepts are equivalent) OMIM:249710 E (Exact mapping: the two concepts are equivalent) UMLS:C2930871 E (Exact mapping: the two concepts are equivalent) Mesomelic dwarfism, Langer type A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. Orphanet ICD-10:Q87.1 ICD-11:LD24.A MeSH:C537267 OMIM:249700 UMLS:C0432230 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2632 Langer mesomelic dysplasia ORPHA:2632 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537267 E (Exact mapping: the two concepts are equivalent) OMIM:249700 E (Exact mapping: the two concepts are equivalent) UMLS:C0432230 E (Exact mapping: the two concepts are equivalent) GSD type 15 GSD type XV GSD with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease type 15 Glycogen storage disease type XV Glycogenosis type 15 Glycogenosis type XV Glycogenosis with severe cardiomyopathy due to glycogenin deficiency A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:613507 UMLS:C4303568 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency ORPHA:263297 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613507 E (Exact mapping: the two concepts are equivalent) UMLS:C4303568 E (Exact mapping: the two concepts are equivalent) Mesomelic dwarfism, Nievergelt type Nievergelt syndrome A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features. Orphanet ICD-10:Q78.8 ICD-11:LD24.A MeSH:C536120 OMIM:163400 UMLS:C0432231 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2633 Mesomelic dysplasia, Nievergelt type ORPHA:2633 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536120 E (Exact mapping: the two concepts are equivalent) OMIM:163400 E (Exact mapping: the two concepts are equivalent) UMLS:C0432231 E (Exact mapping: the two concepts are equivalent) Primary thymic epithelial neoplasm type A Primary thymic epithelial tumor type A ICD-10:C37 ICD-10:D15.0 ICD-11:2C27.2 ICD-11:XH6WN9 UMLS:C1266091 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263310 Thymoma type A Histopathological subtype ORPHA:263310 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH6WN9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1266091 E (Exact mapping: the two concepts are equivalent) Primary thymic epithelial neoplasm type B Primary thymic epithelial tumor type B ICD-10:C37 ICD-10:D15.0 ICD-11:2C27.2 UMLS:C1328042 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263317 Thymoma type B Histopathological subtype ORPHA:263317 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1328042 E (Exact mapping: the two concepts are equivalent) Primary thymic epithelial neoplasm type AB Primary thymic epithelial tumor type AB ICD-10:C37 ICD-10:D15.0 ICD-11:2C27.2 ICD-11:XH0JH0 UMLS:C1266092 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263324 Thymoma type AB Histopathological subtype ORPHA:263324 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH0JH0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1266092 E (Exact mapping: the two concepts are equivalent) ICD-10:C37 ICD-11:2C27.1 UMLS:C4305465 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263331 Well-differentiated thymic neuroendocrine carcinoma Histopathological subtype ORPHA:263331 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305465 E (Exact mapping: the two concepts are equivalent) ICD-10:C37 ICD-11:2C27.1 UMLS:C5680730 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263335 Moderately-differentiated thymic neuroendocrine carcinoma Histopathological subtype ORPHA:263335 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680730 E (Exact mapping: the two concepts are equivalent) ICD-10:C37 ICD-11:2C27.1 UMLS:C4305466 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263339 Poorly differentiated thymic neuroendocrine carcinoma Histopathological subtype ORPHA:263339 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305466 E (Exact mapping: the two concepts are equivalent) Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. Orphanet ICD-10:H35.5 ICD-11:9E1Y OMIM:193220 OMIM:619082 UMLS:C4749856 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263347 MRCS syndrome ORPHA:263347 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9E1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:193220 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:619082 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749856 E (Exact mapping: the two concepts are equivalent) A rare cardiac condition characterized by acute severe right ventricular failure with subsequent hemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others. Orphanet ICD-10:I97.8 UMLS:C5680731 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263352 Postcardiotomy right ventricular failure ORPHA:263352 ICD-10:I97.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680731 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Alpha-thalassemia-X-linked intellectual disability syndrome OBSOLETE: ATR-X-related syndrome ORPHA:263355 Reinhardt-Pfeiffer mesomelic dysplasia Reinhardt-Pfeiffer syndrome A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Orphanet ICD-10:Q78.8 ICD-11:LD24.A MeSH:C537349 OMIM:191400 UMLS:C1860616 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type ORPHA:2634 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537349 E (Exact mapping: the two concepts are equivalent) OMIM:191400 E (Exact mapping: the two concepts are equivalent) UMLS:C1860616 E (Exact mapping: the two concepts are equivalent) A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions. Orphanet ICD-10:E88.8 OMIM:607483 UMLS:C5190692 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome ORPHA:263410 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607483 E (Exact mapping: the two concepts are equivalent) UMLS:C5190692 E (Exact mapping: the two concepts are equivalent) A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome. Orphanet ICD-10:C49.9 ICD-11:2B56 MedDRA:10002476 UMLS:C0018923 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.02 AND has_lifetime_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263413 Angiosarcoma ORPHA:263413 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B56 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002476 E (Exact mapping: the two concepts are equivalent) UMLS:C0018923 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant hypocalcemia Bartter syndrome with hypocalcemia ORPHA:263417 Nevus fusculoceruleus ophthalmomaxillaris Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus. Orphanet ICD-10:D22.3 ICD-11:LC10 MeSH:D009507 MedDRA:10051713 UMLS:C0027961 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263425 Nevus of Ota ORPHA:263425 ICD-10:D22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009507 E (Exact mapping: the two concepts are equivalent) MedDRA:10051713 E (Exact mapping: the two concepts are equivalent) UMLS:C0027961 E (Exact mapping: the two concepts are equivalent) Nevus fuscocaeruleus acromiodeltoideus Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter. Orphanet ICD-10:D22.6 ICD-11:LC10 UMLS:C0022283 Not applicable All ages Europe AND has_point_prevalence_average_value : 1.17 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263432 Nevus of Ito ORPHA:263432 ICD-10:D22.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0022283 E (Exact mapping: the two concepts are equivalent) Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported. Orphanet ICD-10:C44.8 UMLS:C0406819 Not applicable Infancy Neonatal Israel AND has_birth_prevalence_average_value : 38.5 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263435 Congenital smooth muscle hamartoma ORPHA:263435 ICD-10:C44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0406819 E (Exact mapping: the two concepts are equivalent) Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. Orphanet MeSH:D054546 MedDRA:10081506 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263440 Neuroacanthocytosis Clinical group ORPHA:263440 MeSH:D054546 E (Exact mapping: the two concepts are equivalent) MedDRA:10081506 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia due to HNF4A deficiency A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). Orphanet ICD-10:E16.1 UMLS:C4274078 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263455 Congenital hyperinsulinism due to HNF4A deficiency ORPHA:263455 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274078 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinemic hypoglycemia due to insulin receptor deficiency A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. Orphanet ICD-10:E16.1 OMIM:609968 UMLS:C4303474 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263458 Hyperinsulinism due to INSR deficiency ORPHA:263458 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609968 E (Exact mapping: the two concepts are equivalent) UMLS:C4303474 E (Exact mapping: the two concepts are equivalent) Chondrodysplasia with congenital joint dislocations, CHST3 type SDCD, CHST3 type Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. Orphanet ICD-10:Q74.8 ICD-11:LD24.3 OMIM:143095 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263463 CHST3-related skeletal dysplasia ORPHA:263463 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:143095 E (Exact mapping: the two concepts are equivalent) FHI Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. Orphanet ICD-10:H20.8 ICD-11:9A96.1 MedDRA:10017406 UMLS:C0016782 Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263479 Fuchs heterochromic iridocyclitis ORPHA:263479 ICD-10:H20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9A96.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10017406 E (Exact mapping: the two concepts are equivalent) UMLS:C0016782 E (Exact mapping: the two concepts are equivalent) Acquired hypoprothrombinemia A rare hemorrhagic disorder characterized by decreased factor II plasma levels in association with severe liver disease, vitamin K deficiency, or vitamin K antagonist treatment, or in the context of other conditions such as systemic lupus erythematosus, primary antiphospholipid syndrome, or infections. Patients present with increased bleeding tendency leading to easy bruising, frequent nosebleeds, hemorrhaging after surgery or trauma, and heavy menstrual bleeding, among others. Joint bleeding is uncommon. Orphanet ICD-10:D68.4 ICD-11:3B2Y MeSH:C538174 UMLS:C0392610 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26348 Acquired prothrombin deficiency ORPHA:26348 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538174 E (Exact mapping: the two concepts are equivalent) UMLS:C0392610 E (Exact mapping: the two concepts are equivalent) Pseudo-Morquio syndrome type 2 Pseudo-Morquio type II syndrome SEMD, Maroteaux type SEMD-M Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:184095 UMLS:C3159322 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263482 Spondyloepimetaphyseal dysplasia, Maroteaux type ORPHA:263482 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:184095 E (Exact mapping: the two concepts are equivalent) UMLS:C3159322 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIi CDG-IIi CDG2I Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i Congenital disorder of glycosylation type IIi COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. Orphanet ICD-10:E77.8 ICD-11:5C54.2 OMIM:613612 UMLS:C3150876 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263487 COG5-CDG ORPHA:263487 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613612 E (Exact mapping: the two concepts are equivalent) UMLS:C3150876 E (Exact mapping: the two concepts are equivalent) ICD-10:D68.8 ICD-11:3B61.1 MeSH:C567077 MedDRA:10068370 UMLS:C2363755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26349 Protein S acquired deficiency ORPHA:26349 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B61.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567077 E (Exact mapping: the two concepts are equivalent) MedDRA:10068370 E (Exact mapping: the two concepts are equivalent) UMLS:C2363755 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Io CDG-Io CDG1O Carbohydrate deficient glycoprotein syndrome type Io Congenital disorder of glycosylation type 1o Congenital disorder of glycosylation type Io DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C567857 OMIM:612937 UMLS:C2752007 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263494 DPM3-CDG ORPHA:263494 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567857 E (Exact mapping: the two concepts are equivalent) OMIM:612937 E (Exact mapping: the two concepts are equivalent) UMLS:C2752007 E (Exact mapping: the two concepts are equivalent) Metatropic dwarfism Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. Orphanet ICD-10:Q77.8 ICD-11:LD24.3 MeSH:C537356 MedDRA:10082970 OMIM:156530 UMLS:C0265281 Autosomal dominant Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 81.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2635 Metatropic dysplasia ORPHA:2635 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537356 E (Exact mapping: the two concepts are equivalent) MedDRA:10082970 E (Exact mapping: the two concepts are equivalent) OMIM:156530 E (Exact mapping: the two concepts are equivalent) UMLS:C0265281 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIj CDG-IIj CDG2J Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j Congenital disorder of glycosylation type IIj COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. Orphanet ICD-10:E77.8 ICD-11:5C54.2 OMIM:613489 UMLS:C4303552 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263501 COG4-CDG ORPHA:263501 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613489 E (Exact mapping: the two concepts are equivalent) UMLS:C4303552 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIg CDG-IIg CDG2G Carbohydrate deficient glycoprotein syndrome type IIg Congenital disorder of glycosylation type 2g Congenital disorder of glycosylation type IIg COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C535756 OMIM:611209 UMLS:C2931011 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263508 COG1-CDG ORPHA:263508 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535756 E (Exact mapping: the two concepts are equivalent) OMIM:611209 E (Exact mapping: the two concepts are equivalent) UMLS:C2931011 E (Exact mapping: the two concepts are equivalent) EPM3 PME type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 3 A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Orphanet ICD-10:G40.3 ICD-11:8A61.41 MeSH:C567095 OMIM:611726 UMLS:C2673257 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263516 Progressive myoclonic epilepsy type 3 ORPHA:263516 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567095 E (Exact mapping: the two concepts are equivalent) OMIM:611726 E (Exact mapping: the two concepts are equivalent) UMLS:C2673257 E (Exact mapping: the two concepts are equivalent) ANEC Isolated ANE Isolated acute necrotizing encephalopathy A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. Orphanet ICD-10:G31.8 OMIM:614212 UMLS:C4706387 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263524 Acute necrotizing encephalopathy of childhood ORPHA:263524 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614212 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706387 E (Exact mapping: the two concepts are equivalent) Acral PSS Localized PSS PSS 2 Peeling skin syndrome 2 A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. Orphanet ICD-10:Q80.8 ICD-11:EC20.1 MeSH:C536316 MedDRA:10078538 OMIM:609796 UMLS:C1853354 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263534 Acral peeling skin syndrome ORPHA:263534 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536316 E (Exact mapping: the two concepts are equivalent) MedDRA:10078538 E (Exact mapping: the two concepts are equivalent) OMIM:609796 E (Exact mapping: the two concepts are equivalent) UMLS:C1853354 E (Exact mapping: the two concepts are equivalent) Generalized PSS Generalized deciduous skin A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy. Orphanet ICD-10:Q80.8 ICD-11:EC20.1 OMIM:270300 OMIM:616265 UMLS:C4305156 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263543 Generalized peeling skin syndrome ORPHA:263543 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:270300 E (Exact mapping: the two concepts are equivalent) OMIM:616265 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4305156 E (Exact mapping: the two concepts are equivalent) Generalized peeling skin syndrome type A Non-inflammatory generalized peeling skin syndrome type A. Non-inflammatory peeling skin syndrome type A PSS type A A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin. Orphanet ICD-10:Q80.8 ICD-11:EC20.1 OMIM:616265 OMIM:617115 OMIM:618084 UMLS:C5679692 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263548 Peeling skin syndrome type A Clinical subtype ORPHA:263548 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616265 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617115 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618084 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679692 E (Exact mapping: the two concepts are equivalent) Generalized peeling skin disease type B Generalized peeling skin syndrome type B Inflammatory peeling skin disease Inflammatory peeling skin syndrome PSS type B PSS1 Peeling skin syndrome 1 A form of generalized peeling skin syndrome (PSS) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy. Orphanet ICD-10:Q80.8 ICD-11:EC20.1 OMIM:270300 UMLS:C5679693 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263553 Peeling skin syndrome type B Clinical subtype ORPHA:263553 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:270300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679693 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Generalized deciduous skin type C OBSOLETE: Generalized peeling skin syndrome type C This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Generalized peeling skin syndrome OBSOLETE: Peeling skin syndrome type C ORPHA:263558 MOPD types I and III Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type Primordial microcephalic dwarfism, Crachami type Taybi-Linder syndrome A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Orphanet ICD-10:Q87.1 ICD-11:LD20.2 OMIM:210710 UMLS:C4319565 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2636 Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:210710 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4319565 E (Exact mapping: the two concepts are equivalent) Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. Orphanet ICD-10:D32.9 ICD-11:2A01.00 OMIM:607174 UMLS:C4707361 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263662 Familial multiple meningioma ORPHA:263662 ICD-10:D32.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A01.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607174 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707361 E (Exact mapping: the two concepts are equivalent) Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms). Orphanet ICD-10:K63.8 UMLS:C4509932 Not applicable Adult Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263665 NK-cell enteropathy ORPHA:263665 ICD-10:K63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509932 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited epidermolysis bullosa OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features ORPHA:263676 MOPD type II Majewski osteodysplastic primordial dwarfism type II A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. Orphanet ICD-10:Q87.1 ICD-11:LD20.2 MeSH:C565898 OMIM:210720 UMLS:C0432246 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2637 Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565898 E (Exact mapping: the two concepts are equivalent) OMIM:210720 E (Exact mapping: the two concepts are equivalent) UMLS:C0432246 E (Exact mapping: the two concepts are equivalent) A group of rare chromosomal anomalies characterized by constitutional structural chromosomal rearrangements, including translocations, invertions, duplications and deletions, involving at least three breakpoints on two or more chromosomes. Individuals with such arrangements may display various phenotypes including cognitive impairment, congenital abnormalities and infertility, while some can also be phenotypically normal. Both de novo and familial forms are reported. Orphanet UMLS:C5680729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263708 Complex chromosomal rearrangement syndrome Category ORPHA:263708 UMLS:C5680729 E (Exact mapping: the two concepts are equivalent) OBSOLETE: X chromosome anomaly ORPHA:263711 UMLS:C4736187 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263714 X chromosome number anomaly syndrome Category ORPHA:263714 UMLS:C4736187 E (Exact mapping: the two concepts are equivalent) UMLS:C5680728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263717 X chromosome number anomaly with female phenotype syndrome Category ORPHA:263717 UMLS:C5680728 E (Exact mapping: the two concepts are equivalent) UMLS:C5680727 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263720 X chromosome number anomaly with male phenotype syndrome Category ORPHA:263720 UMLS:C5680727 E (Exact mapping: the two concepts are equivalent) UMLS:C5680726 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263723 Polysomy of X chromosome syndrome Category ORPHA:263723 UMLS:C5680726 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome X UMLS:C5679690 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263726 Partial deletion of chromosome X syndrome Category ORPHA:263726 UMLS:C5679690 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome Xp Partial deletion of the short arm of chromosome X Partial monosomy of chromosome Xp Partial monosomy of the short arm of chromosome X UMLS:C5679689 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263731 Partial deletion of the short arm of the chromosome X syndrome Category ORPHA:263731 UMLS:C5679689 E (Exact mapping: the two concepts are equivalent) ICD-11:LD52 UMLS:C4736189 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263746 Y chromosome number anomaly syndrome Category ORPHA:263746 ICD-11:LD52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736189 E (Exact mapping: the two concepts are equivalent) UMLS:C5680725 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263749 X and Y chromosomal anomaly syndrome Category ORPHA:263749 UMLS:C5680725 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome Xq Partial monosomy of chromosome Xq Partial monosomy of the long arm of chromosome X UMLS:C5679688 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263756 Partial deletion of the long arm of chromosome X syndrome Category ORPHA:263756 UMLS:C5679688 E (Exact mapping: the two concepts are equivalent) 6q23.3 c-myb ClinVar:MYB Ensembl:ENSG00000118513 Genatlas:MYB HGNC:7545 OMIM:189990 Reactome:P10242 SwissProt:P10242 MYB MYB proto-oncogene, transcription factor Partial trisomy of chromosome X UMLS:C5679687 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263768 Partial duplication of chromosome X syndrome Category ORPHA:263768 UMLS:C5679687 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome Xp Partial trisomy of chromosome Xp Partial trisomy of the short arm of chromosome X UMLS:C5679686 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263775 Partial duplication of the short arm of chromosome X syndrome Category ORPHA:263775 UMLS:C5679686 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome Xq Partial trisomy of chromosome Xq Partial trisomy of the long arm of chromosome X UMLS:C5679685 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263783 Partial duplication of the long arm of chromosome X syndrome Category ORPHA:263783 UMLS:C5679685 E (Exact mapping: the two concepts are equivalent) UPD(X) UMLS:C5679684 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=263793 Uniparental disomy of chromosome X syndrome Category ORPHA:263793 UMLS:C5679684 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Y chromosomal anomaly ORPHA:263798 Du Pan syndrome A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>). Orphanet ICD-10:Q73.8 ICD-11:LD26.0 MeSH:C537931 OMIM:228900 UMLS:C1856738 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2639 Fibular aplasia-complex brachydactyly syndrome ORPHA:2639 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537931 E (Exact mapping: the two concepts are equivalent) OMIM:228900 E (Exact mapping: the two concepts are equivalent) UMLS:C1856738 E (Exact mapping: the two concepts are equivalent) LGMD1B Limb-girdle muscular dystrophy due to lamin A/C deficiency This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant Emery-Dreifuss muscular dystrophy UMLS:C1834653 Autosomal dominant limb-girdle muscular dystrophy type 1B ORPHA:264 UMLS:C1834653 E (Exact mapping: the two concepts are equivalent) McAlister-Crane syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Atelosteogenesis type II Lethal short-limb dwarfism, McAlister-Crane type ORPHA:2640 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spondylometaphyseal dysplasia OBSOLETE: Micromelic dwarfism, Fryns type ORPHA:2641 14q22-q23 microdeletion syndrome Del(14)(q22q23) Monosomy 14q22-q23 Monosomy 14q22q23 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Orphanet ICD-10:Q93.5 ICD-11:LD44.E OMIM:609640 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264200 14q22q23 microdeletion syndrome ORPHA:264200 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609640 E (Exact mapping: the two concepts are equivalent) A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. Orphanet ICD-10:Q87.1 ICD-11:LD24.D MeSH:C537321 OMIM:251190 UMLS:C1855089 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2643 Microcephalic primordial dwarfism, Toriello type ORPHA:2643 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537321 E (Exact mapping: the two concepts are equivalent) OMIM:251190 E (Exact mapping: the two concepts are equivalent) UMLS:C1855089 E (Exact mapping: the two concepts are equivalent) 20q13.12 JP-2 JP2 junctophilin2 ClinVar:JPH2 Ensembl:ENSG00000149596 Genatlas:JPH2 HGNC:14202 OMIM:605267 SwissProt:Q9BR39 JPH2 junctophilin 2 Partial duplication of chromosome 1p Partial trisomy of chromosome 1p ICD-11:LD41.01 UMLS:C5679751 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264431 Partial duplication of the short arm of chromosome 1 syndrome Category ORPHA:264431 ICD-11:LD41.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679751 E (Exact mapping: the two concepts are equivalent) Duplication 8p Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. Orphanet ICD-10:Q92.2 MeSH:C538019 UMLS:C0795825 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264450 Trisomy 8p syndrome ORPHA:264450 ICD-10:Q92.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538019 E (Exact mapping: the two concepts are equivalent) UMLS:C0795825 E (Exact mapping: the two concepts are equivalent) 11q24.2 FLJ25530 GLIALCAM glial cell adhesion molecule hepaCAM ClinVar:HEPACAM Ensembl:ENSG00000165478 Genatlas:HEPACAM HGNC:26361 OMIM:611642 SwissProt:Q14CZ8 HEPACAM hepatic and glial cell adhesion molecule Osteoglophonic dwarfism A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. Orphanet ICD-10:Q87.1 ICD-11:LD24.2Y MeSH:C536050 OMIM:166250 UMLS:C0432283 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2645 Osteoglosphonic dysplasia ORPHA:2645 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536050 E (Exact mapping: the two concepts are equivalent) OMIM:166250 E (Exact mapping: the two concepts are equivalent) UMLS:C0432283 E (Exact mapping: the two concepts are equivalent) 10q23.31 bA186O14.3 ClinVar:LIPN Ensembl:ENSG00000204020 Genatlas:LIPN HGNC:23452 OMIM:613924 Reactome:Q5VXI9 SwissProt:Q5VXI9 LIPN lipase family member N GSD due to liver phosphorylase kinase deficiency GSD type 9A GSD type 9C GSD type IXa GSD type IXc Glycogen storage disease type 9A Glycogen storage disease type 9C Glycogen storage disease type IXa Glycogen storage disease type IXc Glycogenosis due to liver phosphorylase kinase deficiency Glycogenosis type 9A Glycogenosis type 9C Glycogenosis type IXa Glycogenosis type IXc XLG Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:306000 OMIM:613027 UMLS:C3694529 Autosomal recessive X-linked recessive Childhood Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264580 Glycogen storage disease due to liver phosphorylase kinase deficiency ORPHA:264580 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:306000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613027 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3694529 E (Exact mapping: the two concepts are equivalent) Parastremmatic dwarfism This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepimetaphyseal dysplasia, Maroteaux type MeSH:C537172 OMIM:168400 UMLS:C1868616 Parastremmatic dysplasia ORPHA:2646 MeSH:C537172 E (Exact mapping: the two concepts are equivalent) OMIM:168400 E (Exact mapping: the two concepts are equivalent) UMLS:C1868616 E (Exact mapping: the two concepts are equivalent) ILD specific to childhood UMLS:C5679752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264656 Interstitial lung disease specific to childhood Category ORPHA:264656 UMLS:C5679752 E (Exact mapping: the two concepts are equivalent) 15q13.3 acetylcholine receptor, nicotinic, alpha 7 (neuronal) ClinVar:CHRNA7 Ensembl:ENSG00000175344 Genatlas:CHRNA7 HGNC:1960 IUPHAR:468 OMIM:118511 Reactome:P36544 SwissProt:P36544 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit Primary ILD specific to childhood ICD-11:CB04 UMLS:C5679754 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264665 Primary interstitial lung disease specific to childhood Category ORPHA:264665 ICD-11:CB04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679754 E (Exact mapping: the two concepts are equivalent) Primary ILD specific to childhood due to alveolar structure disorder UMLS:C5679753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder Category ORPHA:264670 UMLS:C5679753 E (Exact mapping: the two concepts are equivalent) Congenital PAP Congenital pulmonary alveolar proteinosis A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent. Orphanet ICD-10:J84.0 ICD-11:CB04.31 MeSH:C535832 OMIM:300770 OMIM:614370 UMLS:C2931035 Autosomal recessive Adolescent Adult Childhood Elderly Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264675 Hereditary pulmonary alveolar proteinosis ORPHA:264675 ICD-10:J84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535832 E (Exact mapping: the two concepts are equivalent) OMIM:300770 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614370 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931035 E (Exact mapping: the two concepts are equivalent) Primary ILD specific to childhood due to alveolar vascular disorder UMLS:C5679755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder Category ORPHA:264683 UMLS:C5679755 E (Exact mapping: the two concepts are equivalent) Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. Orphanet ICD-10:I89.8 ICD-11:CB04.1 MeSH:C535461 MedDRA:10078770 OMIM:603523 UMLS:C0340014 Not applicable Unknown Infancy Neonatal Germany AND has_birth_prevalence_average_value : 4.17 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264688 Congenital chylothorax ORPHA:264688 ICD-10:I89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535461 E (Exact mapping: the two concepts are equivalent) MedDRA:10078770 E (Exact mapping: the two concepts are equivalent) OMIM:603523 E (Exact mapping: the two concepts are equivalent) UMLS:C0340014 E (Exact mapping: the two concepts are equivalent) Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative. Orphanet ICD-10:J84.8 ICD-11:CB04.4 UMLS:C3873357 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264691 Isolated pulmonary capillaritis ORPHA:264691 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3873357 E (Exact mapping: the two concepts are equivalent) ILD specific to infancy UMLS:C5679737 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264694 Interstitial lung disease specific to infancy Category ORPHA:264694 UMLS:C5679737 E (Exact mapping: the two concepts are equivalent) Secondary ILD specific to childhood associated with a systemic disease UMLS:C5679738 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease Category ORPHA:264699 UMLS:C5679738 E (Exact mapping: the two concepts are equivalent) Secondary ILD specific to childhood associated with a connective tissue disease UMLS:C5679739 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease Category ORPHA:264704 UMLS:C5679739 E (Exact mapping: the two concepts are equivalent) Secondary ILD specific to childhood associated with a systemic vasculitis UMLS:C5679740 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Category ORPHA:264709 UMLS:C5679740 E (Exact mapping: the two concepts are equivalent) Secondary ILD specific to childhood associated with a granulomatous disease UMLS:C5679741 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease Category ORPHA:264714 UMLS:C5679741 E (Exact mapping: the two concepts are equivalent) Secondary ILD specific to childhood associated with a metabolic disease UMLS:C5679742 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease Category ORPHA:264719 UMLS:C5679742 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Histiocytosis X specific to childhood OBSOLETE: Langerhans cell granulomatosis specific to childhood This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Langerhans cell histiocytosis specific to childhood ORPHA:264724 ILD specific to adulthood UMLS:C5679743 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264735 Interstitial lung disease specific to adulthood Category ORPHA:264735 UMLS:C5679743 E (Exact mapping: the two concepts are equivalent) Primary ILD specific to adulthood UMLS:C5679744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264740 Primary interstitial lung disease specific to adulthood Category ORPHA:264740 UMLS:C5679744 E (Exact mapping: the two concepts are equivalent) Secondary ILD specific to adulthood associated with a systemic disease UMLS:C5679745 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease Category ORPHA:264745 UMLS:C5679745 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Histiocytosis X specific to adulthood OBSOLETE: Langerhans cell granulomatosis specific to adulthood This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Langerhans cell histiocytosis specific to adulthood ORPHA:264750 ILD in childhood and adulthood UMLS:C5679746 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264757 Interstitial lung disease in childhood and adulthood Category ORPHA:264757 UMLS:C5679746 E (Exact mapping: the two concepts are equivalent) Primary ILD in childhood and adulthood UMLS:C5679747 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264762 Primary interstitial lung disease in childhood and adulthood Category ORPHA:264762 UMLS:C5679747 E (Exact mapping: the two concepts are equivalent) Richieri Costa-Guion Almeida syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Baraitser-Winter cerebrofrontofacial syndrome OMIM:243310 UMLS:C2930979 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome ORPHA:2649 OMIM:243310 E (Exact mapping: the two concepts are equivalent) UMLS:C2930979 E (Exact mapping: the two concepts are equivalent) Primary ILD in childhood and adulthood due to alveolar structure disorder UMLS:C5679748 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder Category ORPHA:264930 UMLS:C5679748 E (Exact mapping: the two concepts are equivalent) Primary ILD in childhood and adulthood due to alveolar vascular disorder UMLS:C5679749 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder Category ORPHA:264935 UMLS:C5679749 E (Exact mapping: the two concepts are equivalent) Secondary ILD in childhood and adulthood UMLS:C5679750 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264944 Secondary interstitial lung disease in childhood and adulthood Category ORPHA:264944 UMLS:C5679750 E (Exact mapping: the two concepts are equivalent) Secondary ILD in childhood and adulthood associated with a systemic disease UMLS:C5679735 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Category ORPHA:264949 UMLS:C5679735 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Histiocytosis X in childhood and adulthood OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood ORPHA:264955 Secondary ILD in childhood and adulthood associated with a metabolic disease UMLS:C5679734 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease Category ORPHA:264968 UMLS:C5679734 E (Exact mapping: the two concepts are equivalent) Secondary ILD in childhood and adulthood associated with a systemic vasculitis UMLS:C5679733 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Category ORPHA:264973 UMLS:C5679733 E (Exact mapping: the two concepts are equivalent) A rare secondary interstitial lung disease (ILD) characterized by development of the condition after exposure to certain drugs or radiation therapy. Diagnostic criteria include clear temporal association, identification of a characteristic reaction pattern to the respective drug, and exclusion of other causes of the ILD. Clinically, drug-induced ILD (DI-ILD) may occur as acute ILD with respiratory failure, or as subacute/chronic DI-ILD. Radiation injury to the lung can develop during or following radiation therapy and depends on the nature and dose of the ionizing radiation, as well as the direction of the radiation beam. Orphanet ICD-10:J70.2 ICD-10:J70.3 ICD-10:J70.4 UMLS:C5680746 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264978 Drug or radiation exposure-related interstitial lung disease ORPHA:264978 ICD-10:J70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:J70.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:J70.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680746 E (Exact mapping: the two concepts are equivalent) UMLS:C5680745 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264984 Exposure-related interstitial lung disease Category ORPHA:264984 UMLS:C5680745 E (Exact mapping: the two concepts are equivalent) Genetic ILD UMLS:C5679736 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=264992 Genetic interstitial lung disease Category ORPHA:264992 UMLS:C5679736 E (Exact mapping: the two concepts are equivalent) LGMD1C Limb-girdle muscular dystrophy due to caveolin-3 deficiency This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rippling muscle disease UMLS:C1832567 Autosomal dominant limb-girdle muscular dystrophy type 1C ORPHA:265 UMLS:C1832567 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Mollica-Pavone-Antener syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome ORPHA:2650 2q37.1 ClinVar:PRSS56 Ensembl:ENSG00000237412 Genatlas:PRSS56 HGNC:39433 OMIM:613858 SwissProt:P0CW18 PRSS56 serine protease 56 2q14.2 RNU4ATAC1 U4atac U4atac snRNA ClinVar:RNU4ATAC Ensembl:ENSG00000264229 Genatlas:RNU4ATAC HGNC:34016 OMIM:601428 RNU4ATAC RNA, U4atac small nuclear OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome OBSOLETE: Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome ORPHA:2653 Laplane-Fontaine-Lagardere syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Progressive pseudorheumatoid arthropathy of childhood OMIM:272450 UMLS:C2931647 Syndesmodysplasic dwarfism ORPHA:2654 OMIM:272450 E (Exact mapping: the two concepts are equivalent) UMLS:C2931647 E (Exact mapping: the two concepts are equivalent) 12q14.2 FLJ32949 SPATA34 spermatogenesis associated 34 ClinVar:DPY19L2 Ensembl:ENSG00000177990 Genatlas:DPY19L2 HGNC:19414 OMIM:613893 SwissProt:Q6NUT2 DPY19L2 dpy-19 like 2 17p13.3 EPC-1 PIG35 alpha-2 antiplasmin pigment epithelium-derived factor proliferation-inducing protein 35 ClinVar:SERPINF1 Ensembl:ENSG00000132386 Genatlas:SERPINF1 HGNC:8824 OMIM:172860 SwissProt:P36955 SERPINF1 serpin family F member 1 19p13.12 MRT14 TER very-long-chain enoyl-CoA reductase ClinVar:TECR Ensembl:ENSG00000099797 Genatlas:TECR HGNC:4551 OMIM:610057 Reactome:Q9NZ01 SwissProt:Q9NZ01 TECR trans-2,3-enoyl-CoA reductase TD A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. Orphanet ICD-10:Q77.1 ICD-11:LD24.02 MeSH:D013796 MedDRA:10049808 OMIM:156830 OMIM:187600 OMIM:187601 UMLS:C0039743 Autosomal dominant Not applicable Antenatal Neonatal Denmark AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 France AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Latin America AND has_birth_prevalence_average_value : 4.7 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2655 Thanatophoric dysplasia ORPHA:2655 ICD-10:Q77.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013796 E (Exact mapping: the two concepts are equivalent) MedDRA:10049808 E (Exact mapping: the two concepts are equivalent) OMIM:156830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:187600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:187601 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0039743 E (Exact mapping: the two concepts are equivalent) 19q13.31-q13.32 DFNA4B ClinVar:CEACAM16 Ensembl:ENSG00000213892 Genatlas:CEACAM16 HGNC:31948 OMIM:614591 SwissProt:Q2WEN9 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component 8q22.2 processing of precursors 1 ClinVar:POP1 Ensembl:ENSG00000104356 Genatlas:POP1 HGNC:30129 OMIM:602486 Reactome:Q99575 SwissProt:Q99575 POP1 POP1 homolog, ribonuclease P/MRP subunit An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. Orphanet ICD-10:Q87.1 ICD-11:LD24.1Y MeSH:C537115 OMIM:151050 UMLS:C0432269 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2658 Lenz-Majewski hyperostotic dwarfism ORPHA:2658 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537115 E (Exact mapping: the two concepts are equivalent) OMIM:151050 E (Exact mapping: the two concepts are equivalent) UMLS:C0432269 E (Exact mapping: the two concepts are equivalent) LGMD1A Limb-girdle muscular dystrophy due to myotilin deficiency A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. Orphanet ICD-10:G71.0 ICD-11:8C70.40 OMIM:609200 UMLS:C4304304 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=266 Autosomal dominant limb-girdle muscular dystrophy type 1A ORPHA:266 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304304 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3M syndrome MeSH:C535725 OMIM:126950 UMLS:C1851996 Dwarfism-tall vertebrae syndrome ORPHA:2661 MeSH:C535725 E (Exact mapping: the two concepts are equivalent) OMIM:126950 E (Exact mapping: the two concepts are equivalent) UMLS:C1851996 E (Exact mapping: the two concepts are equivalent) 22q11.1 CD217 CDw217 IL-17RA hIL-17R ClinVar:IL17RA Ensembl:ENSG00000177663 Genatlas:IL17RA HGNC:5985 IUPHAR:1738 OMIM:605461 Reactome:Q96F46 SwissProt:Q96F46 IL17RA interleukin 17 receptor A 6p12.2 IL-17F ML-1 ML1 ClinVar:IL17F Ensembl:ENSG00000112116 Genatlas:IL17F HGNC:16404 OMIM:606496 Reactome:Q96PD4 SwissProt:Q96PD4 IL17F interleukin 17F 12p13.1 GluN2B NR2B ClinVar:GRIN2B Ensembl:ENSG00000273079 Genatlas:GRIN2B HGNC:4586 IUPHAR:457 OMIM:138252 Reactome:Q13224 SwissProt:Q13224 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B 20q13.33 ANT-1 Prp6 RP60 SNRNP102 TOM U5-102K bB152O15.1 hPrp6 ClinVar:PRPF6 Ensembl:ENSG00000101161 Genatlas:PRPF6 HGNC:15860 OMIM:613979 Reactome:O94906 SwissProt:O94906 PRPF6 pre-mRNA processing factor 6 17p13.1 FLJ10385 TCAB1 WD-encoding RNA antisense to p53 telomerase cajal body protein 1 ClinVar:WRAP53 Ensembl:ENSG00000141499 Genatlas:WRAP53 HGNC:25522 OMIM:612661 Reactome:Q9BUR4 SwissProt:Q9BUR4 WRAP53 WD repeat containing antisense to TP53 16q23.1 KARS1 KARS2 lysine tRNA ligase ClinVar:KARS Ensembl:ENSG00000065427 Genatlas:KARS HGNC:6215 OMIM:601421 Reactome:Q15046 SwissProt:Q15046 KARS1 lysyl-tRNA synthetase 1 Nasodigitoacoustic syndrome A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. Orphanet ICD-10:Q87.0 MeSH:C538337 OMIM:301026 UMLS:C1850627 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2662 Keipert syndrome ORPHA:2662 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538337 E (Exact mapping: the two concepts are equivalent) OMIM:301026 E (Exact mapping: the two concepts are equivalent) UMLS:C1850627 E (Exact mapping: the two concepts are equivalent) Deafness-cataract-skeletal anomalies syndrome Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Orphanet ICD-10:Q87.8 MeSH:C538342 OMIM:255990 UMLS:C1850626 Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2663 Nathalie syndrome ORPHA:2663 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538342 E (Exact mapping: the two concepts are equivalent) OMIM:255990 E (Exact mapping: the two concepts are equivalent) UMLS:C1850626 E (Exact mapping: the two concepts are equivalent) A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable. Orphanet ICD-10:D41.0 ICD-11:2C90.Y MeSH:D018201 MedDRA:10070665 UMLS:C1332965 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2665 Congenital mesoblastic nephroma ORPHA:2665 ICD-10:D41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018201 E (Exact mapping: the two concepts are equivalent) MedDRA:10070665 E (Exact mapping: the two concepts are equivalent) UMLS:C1332965 E (Exact mapping: the two concepts are equivalent) A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q61.8 ICD-11:GB83 UMLS:C4518090 Unknown Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2666 Adult familial nephronophthisis-spastic quadriparesia syndrome ORPHA:2666 ICD-10:Q61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518090 E (Exact mapping: the two concepts are equivalent) Edwards-Patton-Dilly syndrome Nephropathy-hearing loss-hyperparathyroidism syndrome A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C536401 OMIM:256120 UMLS:C4518325 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2668 Nephropathy-deafness-hyperparathyroidism syndrome ORPHA:2668 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536401 E (Exact mapping: the two concepts are equivalent) OMIM:256120 E (Exact mapping: the two concepts are equivalent) UMLS:C4518325 E (Exact mapping: the two concepts are equivalent) Braun-Bayer syndrome Nephrosis-hearing loss-urinary tract-digital malformations syndrome A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C536402 OMIM:256200 UMLS:C4510366 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2669 Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536402 E (Exact mapping: the two concepts are equivalent) OMIM:256200 E (Exact mapping: the two concepts are equivalent) UMLS:C4510366 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2A Calpain-3-related LGMD R1 LGMD type 2A LGMD2A Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy type 2A Primary calpainopathy A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C535895 OMIM:253600 UMLS:C1869123 Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000 Reunion AND has_point_prevalence_average_value : 4.8 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=267 Calpain-3-related limb-girdle muscular dystrophy R1 ORPHA:267 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535895 E (Exact mapping: the two concepts are equivalent) OMIM:253600 E (Exact mapping: the two concepts are equivalent) UMLS:C1869123 E (Exact mapping: the two concepts are equivalent) Microcoria-congenital nephrosis syndrome A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Orphanet ICD-10:Q13.8 ICD-11:GB41 MeSH:C537185 OMIM:609049 UMLS:C1836876 Autosomal recessive Childhood Neonatal Worldwide AND has_cases/families_value : 98.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2670 Pierson syndrome ORPHA:2670 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537185 E (Exact mapping: the two concepts are equivalent) OMIM:609049 E (Exact mapping: the two concepts are equivalent) UMLS:C1836876 E (Exact mapping: the two concepts are equivalent) 3q13.32-q13.33 CDGAP ClinVar:ARHGAP31 Ensembl:ENSG00000031081 Genatlas:ARHGAP31 HGNC:29216 OMIM:610911 Reactome:Q2M1Z3 SwissProt:Q2M1Z3 ARHGAP31 Rho GTPase activating protein 31 Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Orphanet ICD-10:Q87.8 ICD-11:LD20.1 MeSH:C536405 OMIM:256520 OMIM:616038 UMLS:C0265218 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 91.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2671 Neu-Laxova syndrome ORPHA:2671 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536405 E (Exact mapping: the two concepts are equivalent) OMIM:256520 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616038 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265218 E (Exact mapping: the two concepts are equivalent) 2q11.2 FLJ27524 MGC52110 Pet191 ClinVar:COA5 Ensembl:ENSG00000183513 Genatlas:COA5 HGNC:33848 OMIM:613920 SwissProt:Q86WW8 COA5 cytochrome c oxidase assembly factor 5 Recurrent encephalophathy of childhood A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:G93.4 MeSH:C536407 OMIM:130950 UMLS:C1851708 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2672 Neuhauser-Eichner-Opitz syndrome ORPHA:2672 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536407 E (Exact mapping: the two concepts are equivalent) OMIM:130950 E (Exact mapping: the two concepts are equivalent) UMLS:C1851708 E (Exact mapping: the two concepts are equivalent) 10q22.2 CGI-132 bS16m ClinVar:MRPS16 Ensembl:ENSG00000182180 Genatlas:MRPS16 HGNC:14048 OMIM:609204 Reactome:Q9Y3D3 SwissProt:Q9Y3D3 MRPS16 mitochondrial ribosomal protein S16 16p11.2 EF-TuMT EFTU EFTu ClinVar:TUFM Ensembl:ENSG00000178952 Genatlas:TUFM HGNC:12420 OMIM:602389 Reactome:P49411 SwissProt:P49411 TUFM Tu translation elongation factor, mitochondrial Freire Maia-Pinheiro-Opitz syndrome Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. Orphanet ICD-10:Q87.8 MeSH:C537388 OMIM:256690 UMLS:C0796088 Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2673 Neurofaciodigitorenal syndrome ORPHA:2673 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537388 E (Exact mapping: the two concepts are equivalent) OMIM:256690 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0796088 E (Exact mapping: the two concepts are equivalent) 20q13.32 ClinVar:ATP5E Ensembl:ENSG00000124172 Genatlas:ATP5E HGNC:838 IUPHAR:800 OMIM:606153 Reactome:P56381 SwissProt:P56381 ATP5F1E ATP synthase F1 subunit epsilon A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. Orphanet ICD-10:Q87.8 MeSH:C536229 OMIM:123853 UMLS:C1852396 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2674 Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536229 E (Exact mapping: the two concepts are equivalent) OMIM:123853 E (Exact mapping: the two concepts are equivalent) UMLS:C1852396 E (Exact mapping: the two concepts are equivalent) mitochondria trnV ClinVar:MT-TV Ensembl:ENSG00000210077 Genatlas:MT-TV HGNC:7500 OMIM:590105 MT-TV mitochondrially encoded tRNA-Val (GUN) OBSOLETE: Maccario-Mena syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary renal tubular acidosis OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome ORPHA:2675 Oerter-Friedman-Anderson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woodhouse-Sakati syndrome Neuroectodermal-endocrine syndrome ORPHA:2676 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Peripheral primitive neuroectodermal tumor OBSOLETE: Neuroepithelioma ORPHA:2677 CALs syndrome isolated Familial CALMs isolated Familial isolated CALSs Familial isolated café-au-lait spots Multiple isolated café-au-lait spots Multiple isolated café-au-lait syndrome A rare hyperpigmentation of the skin characterized by the presence of several café-au-lait macules without any other manifestations of neurofibromatosis or any other systemic disorder. The macules may appear in infancy, but usually they are detected after 2&nbsp;years of age. Hyperpigmented lesions may have smooth or irregular borders. Their size vary from a few millimeters to more than 10&nbsp;cm. Orphanet ICD-10:L81.3 ICD-11:EC23.0 OMIM:114030 UMLS:C1861975 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2678 Familial isolated café-au-lait macules ORPHA:2678 ICD-10:L81.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:114030 E (Exact mapping: the two concepts are equivalent) UMLS:C1861975 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic peripheral neuropathy OBSOLETE: Infantile axonal neuropathy ORPHA:2679 Adenomucinosis Gelatinous ascites PMP Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. Orphanet ICD-10:C78.6 ICD-11:2D91 MeSH:D011553 MedDRA:10037138 UMLS:C0033822 Unknown Adult Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26790 Pseudomyxoma peritonei ORPHA:26790 ICD-10:C78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2D91 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011553 E (Exact mapping: the two concepts are equivalent) MedDRA:10037138 E (Exact mapping: the two concepts are equivalent) UMLS:C0033822 E (Exact mapping: the two concepts are equivalent) Glutaric acidemia type 2 Glutaric aciduria type 2 MAD deficiency MADD Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. Orphanet ICD-10:E71.3 ICD-11:5C52.01 MeSH:D054069 OMIM:231680 UMLS:C0268596 Autosomal recessive All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.47 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26791 Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054069 E (Exact mapping: the two concepts are equivalent) OMIM:231680 E (Exact mapping: the two concepts are equivalent) UMLS:C0268596 E (Exact mapping: the two concepts are equivalent) ACADS deficiency SCAD deficiency SCADD Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. Orphanet ICD-10:E71.3 ICD-11:5C52.01 MeSH:C537596 OMIM:201470 Autosomal recessive Childhood Infancy Neonatal Netherlands AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26792 Short chain acyl-CoA dehydrogenase deficiency ORPHA:26792 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537596 E (Exact mapping: the two concepts are equivalent) OMIM:201470 E (Exact mapping: the two concepts are equivalent) VLCAD deficiency VLCADD Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. Orphanet ICD-10:E71.3 ICD-11:5C52.01 MeSH:C536353 MedDRA:10072656 OMIM:201475 UMLS:C3887523 Autosomal recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=26793 Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536353 E (Exact mapping: the two concepts are equivalent) MedDRA:10072656 E (Exact mapping: the two concepts are equivalent) OMIM:201475 E (Exact mapping: the two concepts are equivalent) UMLS:C3887523 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2B Dysferlin-related LGMD R2 LGMD due to dysferlin deficiency LGMD type 2B LGMD2B Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy type 2B A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C535899 OMIM:253601 UMLS:C1850889 Autosomal recessive Adolescent Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268 Dysferlin-related limb-girdle muscular dystrophy R2 ORPHA:268 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535899 E (Exact mapping: the two concepts are equivalent) OMIM:253601 E (Exact mapping: the two concepts are equivalent) UMLS:C1850889 E (Exact mapping: the two concepts are equivalent) Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. Orphanet ICD-10:Q68.8 OMIM:616286 OMIM:616287 OMIM:617468 OMIM:618186 UMLS:C4707882 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2680 Hypomyelination neuropathy-arthrogryposis syndrome ORPHA:2680 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616286 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616287 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617468 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618186 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707882 E (Exact mapping: the two concepts are equivalent) 10p12.1 ClinVar:RAB18 Ensembl:ENSG00000099246 Genatlas:RAB18 HGNC:14244 OMIM:602207 Reactome:Q9NP72 SwissProt:Q9NP72 RAB18 RAB18, member RAS oncogene family 11p15.5 MG1 MUC-5B mucin MG1 ClinVar:MUC5B Ensembl:ENSG00000117983 Genatlas:MUC5B HGNC:7516 OMIM:600770 Reactome:Q9HC84 SwissProt:Q9HC84 MUC5B mucin 5B, oligomeric mucus/gel-forming 5q31.3 HARSR HO3 histidine tRNA ligase 2, mitochondrial (putative) ClinVar:HARS2 Ensembl:ENSG00000112855 Genatlas:HARS2 HGNC:4817 OMIM:600783 Reactome:P49590 SwissProt:P49590 HARS2 histidyl-tRNA synthetase 2, mitochondrial 15q26.1 JBTS12 ClinVar:KIF7 Ensembl:ENSG00000166813 Genatlas:KIF7 HGNC:30497 OMIM:611254 Reactome:Q2M1P5 SwissProt:Q2M1P5 KIF7 kinesin family member 7 22q13.31 ClinVar:UPK3A Ensembl:ENSG00000100373 Genatlas:UPK3A HGNC:12580 OMIM:611559 SwissProt:O75631 UPK3A uroplakin 3A 14q24.3 1700010H15RiK CILD16 MGC12435 ClinVar:DNAL1 Ensembl:ENSG00000119661 Genatlas:DNAL1 HGNC:23247 OMIM:610062 SwissProt:Q4LDG9 DNAL1 dynein axonemal light chain 1 6q21 BIF1 KIAA0441 PATZ2 POZ (BTB) and AT hook containing zinc finger 2 ClinVar:ZBTB24 Ensembl:ENSG00000112365 Genatlas:ZBTB24 HGNC:21143 OMIM:614064 Reactome:O43167 SwissProt:O43167 ZBTB24 zinc finger and BTB domain containing 24 RALD RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. Orphanet ICD-10:D72.8 OMIM:614470 UMLS:C2674723 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268114 RAS-associated autoimmune leukoproliferative disease ORPHA:268114 ICD-10:D72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614470 E (Exact mapping: the two concepts are equivalent) UMLS:C2674723 E (Exact mapping: the two concepts are equivalent) Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. Orphanet ICD-10:G71.8 ICD-11:8C72.0Y MeSH:C000598645 OMIM:182920 UMLS:C1866785 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268129 Spheroid body myopathy ORPHA:268129 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000598645 E (Exact mapping: the two concepts are equivalent) OMIM:182920 E (Exact mapping: the two concepts are equivalent) UMLS:C1866785 E (Exact mapping: the two concepts are equivalent) Orbital medulloepithelioma Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations. Orphanet ICD-10:D31.4 UMLS:C1883694 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268139 Intraocular medulloepithelioma ORPHA:268139 ICD-10:D31.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1883694 E (Exact mapping: the two concepts are equivalent) Classic BCKD deficiency Classic MSUD Classic branched-chain alpha-ketoacid dehydrogenase deficiency Classic branched-chain ketoaciduria Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. Orphanet ICD-10:E71.0 ICD-11:5C50.D0 OMIM:248600 OMIM:620698 OMIM:620699 UMLS:C0268568 Autosomal recessive Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268145 Classic maple syrup urine disease Clinical subtype ORPHA:268145 ICD-10:E71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.D0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620698 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620699 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268568 E (Exact mapping: the two concepts are equivalent) Intermediate BCKD deficiency Intermediate MSUD Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. Orphanet ICD-10:E71.0 ICD-11:5C50.D0 OMIM:248600 OMIM:615135 OMIM:620698 OMIM:620699 UMLS:C1621920 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268162 Intermediate maple syrup urine disease Clinical subtype ORPHA:268162 ICD-10:E71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.D0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615135 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620698 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620699 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1621920 E (Exact mapping: the two concepts are equivalent) Intermittent BCKD deficiency Intermittent MSUD Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. Orphanet ICD-10:E71.0 ICD-11:5C50.D0 OMIM:248600 OMIM:620698 OMIM:620699 UMLS:C0268569 Autosomal recessive Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268173 Intermittent maple syrup urine disease Clinical subtype ORPHA:268173 ICD-10:E71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.D0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620698 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620699 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268569 E (Exact mapping: the two concepts are equivalent) Thiamine-responsive BCKD deficiency Thiamine-responsive MSUD Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine. Orphanet ICD-10:E71.0 ICD-11:5C50.D0 OMIM:248600 UMLS:C0751285 Autosomal recessive Infancy Europe AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268184 Thiamine-responsive maple syrup urine disease Clinical subtype ORPHA:268184 ICD-10:E71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.D0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751285 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Pigment-dispersion syndrome ORPHA:26823 MMF embryopathy Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y UMLS:C4509879 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268249 Mycophenolate mofetil embryopathy ORPHA:268249 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4509879 E (Exact mapping: the two concepts are equivalent) 21q22.13q22.2 microdeletion syndrome Del(21)(q22.13q22.2) Monosomy 21q22.13q22.2 A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Orphanet ICD-10:Q93.5 ICD-11:LD44.M OMIM:614104 UMLS:C5191008 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Etiological subtype ORPHA:268261 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.M - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614104 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5191008 E (Exact mapping: the two concepts are equivalent) ICD-10:Y84.1 MedDRA:10070476 UMLS:C0274417 Not applicable All ages Europe AND has_annual_incidence_average_value : 13.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268316 Complication in hemodialysis ORPHA:268316 ICD-10:Y84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10070476 E (Exact mapping: the two concepts are equivalent) UMLS:C0274417 E (Exact mapping: the two concepts are equivalent) A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. Orphanet ICD-10:D69.4 OMIM:188000 OMIM:273900 OMIM:313900 OMIM:612004 UMLS:C5190888 Autosomal dominant Autosomal recessive X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268322 Hereditary thrombocytopenia with normal platelets ORPHA:268322 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:188000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:273900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:313900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612004 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190888 E (Exact mapping: the two concepts are equivalent) 4q24 FLJ20032 ten-eleven translocation 2 ClinVar:TET2 Ensembl:ENSG00000168769 Genatlas:TET2 HGNC:25941 OMIM:612839 Reactome:Q6N021 SwissProt:Q6N021 TET2 tet methylcytosine dioxygenase 2 RI-CMT UMLS:C5679732 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease Clinical group ORPHA:268337 UMLS:C5679732 E (Exact mapping: the two concepts are equivalent) 7q11.21 CLN14 EPM3 FLJ32069 ClinVar:KCTD7 Ensembl:ENSG00000243335 Genatlas:KCTD7 HGNC:21957 OMIM:611725 Reactome:Q96MP8 SwissProt:Q96MP8 KCTD7 potassium channel tetramerization domain containing 7 1q23.2 APH2 KIAA0253 ClinVar:NCSTN Ensembl:ENSG00000162736 Genatlas:NCSTN HGNC:17091 OMIM:605254 Reactome:Q92542 SwissProt:Q92542 NCSTN nicastrin 19q13.12 PEN2 ClinVar:PSENEN Ensembl:ENSG00000205155 Genatlas:PSENEN HGNC:30100 OMIM:607632 Reactome:Q9NZ42 SwissProt:Q9NZ42 PSENEN presenilin enhancer, gamma-secretase subunit OMIM:182940 OMIM:301410 OMIM:601634 UMLS:C5680742 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268357 Neural tube closure defect Category ORPHA:268357 OMIM:182940 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301410 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601634 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680742 E (Exact mapping: the two concepts are equivalent) ICD-10:Q00.2 ICD-11:LA00.1 UMLS:C0431285 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268363 Open iniencephaly Clinical subtype ORPHA:268363 ICD-10:Q00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA00.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431285 E (Exact mapping: the two concepts are equivalent) ICD-10:Q00.2 ICD-11:LA00.1 UMLS:C0431286 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268366 Closed iniencephaly Clinical subtype ORPHA:268366 ICD-10:Q00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA00.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431286 E (Exact mapping: the two concepts are equivalent) Open spina bifida Spina bifida aperta A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others. Orphanet ICD-10:Q05.0 ICD-10:Q05.1 ICD-10:Q05.2 ICD-10:Q05.3 ICD-10:Q05.4 ICD-10:Q05.5 ICD-10:Q05.6 ICD-10:Q05.7 ICD-10:Q05.8 ICD-10:Q05.9 ICD-11:LA02.1 UMLS:C0917813 Multigenic/multifactorial Not applicable Infancy Neonatal France AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 51.5 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 400.0 AND has_birth_prevalence_range : >1 / 1000 Latin America AND has_birth_prevalence_average_value : 62.0 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 400.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268369 Open spinal dysraphism Clinical group ORPHA:268369 ICD-10:Q05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA02.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0917813 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism OBSOLETE: Total spina bifida aperta ORPHA:268377 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism OBSOLETE: Thoracolumbosacral spina bifida aperta ORPHA:268384 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism OBSOLETE: Lumbosacral spina bifida aperta ORPHA:268388 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism OBSOLETE: Cervical spina bifida aperta ORPHA:268392 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism OBSOLETE: Cervicothoracic spina bifida aperta ORPHA:268397 A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant. Orphanet ICD-10:D70 ICD-11:4B00.00 MeSH:C536227 MedDRA:10053176 OMIM:162800 UMLS:C0221023 Autosomal dominant All ages Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2686 Cyclic neutropenia ORPHA:2686 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4B00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536227 E (Exact mapping: the two concepts are equivalent) MedDRA:10053176 E (Exact mapping: the two concepts are equivalent) OMIM:162800 E (Exact mapping: the two concepts are equivalent) UMLS:C0221023 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to T-cell large granular lymphocyte leukemia UMLS:C2930809 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome ORPHA:2687 UMLS:C2930809 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism OBSOLETE: Upper thoracic spina bifida aperta ORPHA:268740 Spina bifida cystica A rare spinal dysraphism characterized by the presence of a posteriorly located sac containing cerebrospinal fluid. Orphanet ICD-11:LA02.0 MeSH:D016137 MedDRA:10071011 UMLS:C0037917 Multigenic/multifactorial Not applicable Infancy Neonatal Saudi Arabia AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268744 Spinal dysraphism with a posterior meningocele Clinical group ORPHA:268744 ICD-11:LA02.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016137 E (Exact mapping: the two concepts are equivalent) MedDRA:10071011 E (Exact mapping: the two concepts are equivalent) UMLS:C0037917 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spinal dysraphism with a posterior meningocele OBSOLETE: Total spina bifida cystica ORPHA:268748 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spinal dysraphism with a posterior meningocele OBSOLETE: Thoracolumbosacral spina bifida cystica ORPHA:268752 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spinal dysraphism with a posterior meningocele OBSOLETE: Lumbosacral spina bifida cystica ORPHA:268758 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spinal dysraphism with a posterior meningocele OBSOLETE: Cervical spina bifida cystica ORPHA:268762 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spinal dysraphism with a posterior meningocele OBSOLETE: Cervicothoracic spina bifida cystica ORPHA:268766 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spinal dysraphism with a posterior meningocele OBSOLETE: Upper thoracic spina bifida cystica ORPHA:268770 Xq28 BRCC36 C6.1A Lys-63-specific deubiquitinase ClinVar:BRCC3 Ensembl:ENSG00000185515 Genatlas:BRCC3 HGNC:24185 OMIM:300617 Reactome:P46736 SwissProt:P46736 BRCC3 BRCA1/BRCA2-containing complex subunit 3 Adult chronic idiopathic neutropenia A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed. Orphanet ICD-10:D70 ICD-11:4B00.01 OMIM:607847 UMLS:C5191335 Not applicable Adult Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2688 Adult idiopathic neutropenia ORPHA:2688 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607847 E (Exact mapping: the two concepts are equivalent) UMLS:C5191335 E (Exact mapping: the two concepts are equivalent) Xp22.12 Chisel Csl DFNX4 ClinVar:SMPX Ensembl:ENSG00000091482 Genatlas:SMPX HGNC:11122 OMIM:300226 SwissProt:Q9UHP9 SMPX small muscle protein X-linked Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. Orphanet ICD-10:Q05.2 ICD-10:Q05.3 ICD-10:Q05.7 ICD-10:Q05.8 ICD-11:LA02.0Y UMLS:C5680741 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268810 Isolated posterior meningocele ORPHA:268810 ICD-10:Q05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680741 E (Exact mapping: the two concepts are equivalent) A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non terminal myelocystocele). Orphanet ICD-10:Q05.9 ICD-11:LA02.02 UMLS:C4551677 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268813 Myelocystocele Clinical group ORPHA:268813 ICD-10:Q05.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA02.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4551677 E (Exact mapping: the two concepts are equivalent) ICD-10:Q01 ICD-11:LA01 UMLS:C0014065 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268817 Cephalocele Clinical group ORPHA:268817 ICD-10:Q01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0014065 E (Exact mapping: the two concepts are equivalent) A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid. Orphanet ICD-10:Q01.0 ICD-10:Q01.1 ICD-10:Q01.2 ICD-10:Q01.8 ICD-10:Q01.9 ICD-11:LA01 UMLS:C0009694 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268820 Cranial meningocele ORPHA:268820 ICD-10:Q01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:Q01.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:Q01.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:Q01.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:Q01.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0009694 E (Exact mapping: the two concepts are equivalent) ICD-10:Q01.2 ICD-11:LA01 UMLS:C0014067 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268823 Occipital encephalocele Clinical subtype ORPHA:268823 ICD-10:Q01.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0014067 E (Exact mapping: the two concepts are equivalent) ICD-10:Q01.8 ICD-11:LA01 UMLS:C0431294 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268826 Parietal encephalocele Clinical subtype ORPHA:268826 ICD-10:Q01.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431294 E (Exact mapping: the two concepts are equivalent) ICD-10:Q01.8 ICD-11:LA01 UMLS:C4023176 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268829 Basal encephalocele Clinical subtype ORPHA:268829 ICD-10:Q01.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4023176 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Dysraphic spinal cord lipoma OBSOLETE: Lipoma associated with neurospinal dysraphism ORPHA:268832 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Conus spinal cord lipoma UMLS:C1836022 Lipomyelomeningocele ORPHA:268835 UMLS:C1836022 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Conus spinal cord lipoma OBSOLETE: Leptomyelolipoma ORPHA:268838 UMLS:C5680733 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268843 Malformation of the neurenteric canal, spinal cord and column Category ORPHA:268843 UMLS:C5680733 E (Exact mapping: the two concepts are equivalent) Primary tethered spinal cord syndrome Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Orphanet ICD-10:Q06.8 ICD-11:LA07.0 UMLS:C4708602 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268861 Primary tethered cord syndrome ORPHA:268861 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA07.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4708602 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed. Orphanet ICD-10:Q06.8 ICD-11:LA07.Y UMLS:C0027806 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268865 Neurenteric cyst ORPHA:268865 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA07.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0027806 E (Exact mapping: the two concepts are equivalent) A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction. Orphanet ICD-10:Q06.0 ICD-11:LA07.2 UMLS:C0266510 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268868 Isolated amyelia ORPHA:268868 ICD-10:Q06.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA07.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0266510 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary syringomyelia OBSOLETE: Primary syringomyelia/hydromyelia ORPHA:268871 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary syringomyelia OBSOLETE: Congenital hydromyelia ORPHA:268874 Arnold-Chiari malformation type 1 Chiari malformation type 1 Chiari malformation type I A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic. Orphanet ICD-10:Q07.0 ICD-11:LA07.4 MedDRA:10056944 OMIM:118420 UMLS:C0750929 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268882 Arnold-Chiari malformation type I ORPHA:268882 ICD-10:Q07.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA07.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10056944 E (Exact mapping: the two concepts are equivalent) OMIM:118420 E (Exact mapping: the two concepts are equivalent) UMLS:C0750929 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cyclic neutropenia Intermittent neutropenia ORPHA:2689 Isolated macrencephaly ICD-10:Q04.5 ICD-11:LA05.1 MeSH:D058627 UMLS:C0221355 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268920 Isolated megalencephaly Clinical subtype ORPHA:268920 ICD-10:Q04.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D058627 E (Exact mapping: the two concepts are equivalent) UMLS:C0221355 E (Exact mapping: the two concepts are equivalent) Midline brain malformation UMLS:C5679771 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268926 Midline cerebral malformation Category ORPHA:268926 UMLS:C5679771 E (Exact mapping: the two concepts are equivalent) Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia. Orphanet ICD-10:Q04.1 ICD-11:LA05.4 UMLS:C4749732 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268936 Isolated arhinencephaly ORPHA:268936 ICD-10:Q04.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA05.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4749732 E (Exact mapping: the two concepts are equivalent) Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. Orphanet ICD-10:Q04.3 ICD-11:LA05.50 OMIM:300388 OMIM:606854 OMIM:612691 OMIM:615752 OMIM:616531 UMLS:C4707565 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268940 Bilateral polymicrogyria ORPHA:268940 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300388 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606854 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612691 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615752 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616531 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707565 E (Exact mapping: the two concepts are equivalent) Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms). Orphanet ICD-10:Q04.3 ICD-11:LA05.50 UMLS:C4024960 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268943 Unilateral polymicrogyria ORPHA:268943 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4024960 E (Exact mapping: the two concepts are equivalent) Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. Orphanet ICD-10:Q04.3 ICD-11:LA05.50 UMLS:C5680773 Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268947 Unilateral focal polymicrogyria Clinical subtype ORPHA:268947 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680773 E (Exact mapping: the two concepts are equivalent) Brain cortical dysplasia ICD-11:LA05.51 UMLS:C0431380 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268950 Cerebral cortical dysplasia Clinical group ORPHA:268950 ICD-11:LA05.51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0431380 E (Exact mapping: the two concepts are equivalent) FCD type I ICD-10:Q04.8 ICD-11:LA05.51 UMLS:C5679772 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268961 Isolated focal cortical dysplasia type I Clinical subtype ORPHA:268961 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679772 E (Exact mapping: the two concepts are equivalent) FCD type Ia ICD-10:Q04.8 ICD-11:LA05.51 UMLS:C5679767 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268973 Isolated focal cortical dysplasia type Ia Histopathological subtype ORPHA:268973 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679767 E (Exact mapping: the two concepts are equivalent) FCD type Ib ICD-10:Q04.8 ICD-11:LA05.51 UMLS:C5679765 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268980 Isolated focal cortical dysplasia type Ib Histopathological subtype ORPHA:268980 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679765 E (Exact mapping: the two concepts are equivalent) FCD type Ic ICD-10:Q04.8 ICD-11:LA05.51 UMLS:C5679766 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268987 Isolated focal cortical dysplasia type Ic Histopathological subtype ORPHA:268987 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679766 E (Exact mapping: the two concepts are equivalent) Cortical dysplasia, Taylor type FCD type II Isolated focal cortical dysplasia type 2 ICD-10:Q04.8 ICD-11:LA05.51 OMIM:607341 UMLS:C5679769 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268994 Isolated focal cortical dysplasia type II Clinical subtype ORPHA:268994 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607341 E (Exact mapping: the two concepts are equivalent) UMLS:C5679769 E (Exact mapping: the two concepts are equivalent) FSH dystrophy FSHD Facioscapulohumeral muscular dystrophy Facioscapulohumeral myopathy Landouzy-Dejerine dystrophy Landouzy-Dejerine myopathy A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles. Orphanet ICD-10:G71.0 ICD-11:8C70.3 MeSH:D020391 MedDRA:10064087 OMIM:158900 OMIM:158901 OMIM:600416 OMIM:619477 OMIM:619478 UMLS:C0238288 Autosomal dominant All ages Europe AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 3.95 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269 Facioscapulohumeral dystrophy ORPHA:269 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C70.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020391 E (Exact mapping: the two concepts are equivalent) MedDRA:10064087 E (Exact mapping: the two concepts are equivalent) OMIM:158900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:158901 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600416 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619477 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619478 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0238288 E (Exact mapping: the two concepts are equivalent) Neutropenia-monocytopenia-hearing loss syndrome Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. Orphanet ICD-10:D82.8 ICD-11:LD2H.Y UMLS:C4518430 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2690 Neutropenia-monocytopenia-deafness syndrome ORPHA:2690 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518430 E (Exact mapping: the two concepts are equivalent) FCD type IIa ICD-10:Q04.8 ICD-11:LA05.51 OMIM:607341 UMLS:C5679770 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269001 Isolated focal cortical dysplasia type IIa Histopathological subtype ORPHA:269001 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607341 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679770 E (Exact mapping: the two concepts are equivalent) FCD type IIb ICD-10:Q04.8 ICD-11:LA05.51 OMIM:607341 UMLS:C5679768 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269008 Isolated focal cortical dysplasia type IIb Histopathological subtype ORPHA:269008 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607341 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679768 E (Exact mapping: the two concepts are equivalent) Cerebral gigantism, Nevo type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency MeSH:C536113 UMLS:C2936777 Nevo syndrome ORPHA:2691 MeSH:C536113 E (Exact mapping: the two concepts are equivalent) UMLS:C2936777 E (Exact mapping: the two concepts are equivalent) ICD-11:LA05.6 UMLS:C5680772 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269190 Encephaloclastic disorder Clinical group ORPHA:269190 ICD-11:LA05.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680772 E (Exact mapping: the two concepts are equivalent) UMLS:C5680777 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269194 Central nervous system cystic malformation Category ORPHA:269194 UMLS:C5680777 E (Exact mapping: the two concepts are equivalent) Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias). Orphanet ICD-10:G93.0 ICD-11:LA05.7 UMLS:C0338599 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269197 Glioependymal/ependymal cyst ORPHA:269197 ICD-10:G93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0338599 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arachnoid cyst OBSOLETE: Retrocerebellar cyst ORPHA:269200 A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development. Orphanet ICD-10:Q04.3 UMLS:C5680776 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269203 Isolated cerebellar vermis agenesis ORPHA:269203 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680776 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 UMLS:C5680781 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269206 Isolated total cerebellar vermis agenesis Clinical subtype ORPHA:269206 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680781 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 UMLS:C5680780 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269209 Isolated partial cerebellar vermis agenesis Clinical subtype ORPHA:269209 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680780 E (Exact mapping: the two concepts are equivalent) ICD-10:Q03.1 ICD-11:LA06.0 UMLS:C5680779 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269212 Isolated Dandy-Walker malformation with hydrocephalus Clinical subtype ORPHA:269212 ICD-10:Q03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA06.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680779 E (Exact mapping: the two concepts are equivalent) ICD-10:Q03.1 ICD-11:LA06.0 UMLS:C5680778 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269215 Isolated Dandy-Walker malformation without hydrocephalus Clinical subtype ORPHA:269215 ICD-10:Q03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA06.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680778 E (Exact mapping: the two concepts are equivalent) Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. Orphanet ICD-10:Q04.3 ICD-11:LA06.1 UMLS:C4707885 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269218 Isolated unilateral hemispheric cerebellar hypoplasia ORPHA:269218 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA06.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707885 E (Exact mapping: the two concepts are equivalent) Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. Orphanet ICD-10:Q04.3 ICD-11:LA06.1 UMLS:C4749791 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269221 Isolated bilateral hemispheric cerebellar hypoplasia ORPHA:269221 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA06.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749791 E (Exact mapping: the two concepts are equivalent) Diffuse cerebellar malformation UMLS:C5679773 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269224 Global cerebellar malformation Category ORPHA:269224 UMLS:C5679773 E (Exact mapping: the two concepts are equivalent) PTCD A rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported. Orphanet ICD-10:Q04.8 OMIM:614688 UMLS:C3541340 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269229 Pontine tegmental cap dysplasia ORPHA:269229 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614688 E (Exact mapping: the two concepts are equivalent) UMLS:C3541340 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Linear nevus sebaceus syndrome OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome ORPHA:2694 A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. Orphanet ICD-10:Q30.2 ICD-11:LA70.1 MeSH:C535441 OMIM:109740 OMIM:210400 UMLS:C0221363 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2695 Bifid nose ORPHA:2695 ICD-10:Q30.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535441 E (Exact mapping: the two concepts are equivalent) OMIM:109740 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:210400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0221363 E (Exact mapping: the two concepts are equivalent) Congenital non-obstructive hydrocephalus ICD-10:Q03.8 OMIM:615219 UMLS:C5679774 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269505 Congenital communicating hydrocephalus Clinical subtype ORPHA:269505 ICD-10:Q03.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615219 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679774 E (Exact mapping: the two concepts are equivalent) Congenital obstructive hydrocephalus ICD-10:Q03.1 ICD-10:Q03.8 ICD-11:8D64.1 OMIM:236600 UMLS:C4546092 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269510 Congenital non-communicating hydrocephalus Clinical subtype ORPHA:269510 ICD-10:Q03.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q03.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8D64.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:236600 E (Exact mapping: the two concepts are equivalent) UMLS:C4546092 E (Exact mapping: the two concepts are equivalent) UMLS:C5680775 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269523 Syndrome with a cerebellar malformation as a major feature Category ORPHA:269523 UMLS:C5680775 E (Exact mapping: the two concepts are equivalent) ICD-11:LD20.2 UMLS:C5680774 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269528 Syndrome with microcephaly as a major feature Category ORPHA:269528 ICD-11:LD20.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680774 E (Exact mapping: the two concepts are equivalent) UMLS:C5680765 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269531 Other syndrome with a central nervous system malformation as a major feature Category ORPHA:269531 UMLS:C5680765 E (Exact mapping: the two concepts are equivalent) 14q32.33 ClinVar:IGHV3-21 Ensembl:ENSG00000211947 Genatlas:IGHV3-21 HGNC:5586 SwissProt:A0A0B4J1V1 IGHV3-21 immunoglobulin heavy variable 3-21 UMLS:C5680766 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269546 Syndrome with a Dandy-Walker malformation as a major feature Category ORPHA:269546 UMLS:C5680766 E (Exact mapping: the two concepts are equivalent) UMLS:C5680767 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269550 Genetic non-syndromic central nervous system malformation Category ORPHA:269550 UMLS:C5680767 E (Exact mapping: the two concepts are equivalent) Genetic brain malformation UMLS:C5679762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269553 Genetic cerebral malformation Category ORPHA:269553 UMLS:C5679762 E (Exact mapping: the two concepts are equivalent) UMLS:C5680768 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269557 Genetic posterior fossa malformation Category ORPHA:269557 UMLS:C5680768 E (Exact mapping: the two concepts are equivalent) UMLS:C5680769 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269560 Genetic cerebellar malformation Category ORPHA:269560 UMLS:C5680769 E (Exact mapping: the two concepts are equivalent) Genetic syndrome with a CNS malformation as major feature UMLS:C5679763 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269564 Genetic syndrome with a central nervous system malformation as a major feature Category ORPHA:269564 UMLS:C5679763 E (Exact mapping: the two concepts are equivalent) UMLS:C5680762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269567 Genetic syndrome with a cerebellar malformation as a major feature Category ORPHA:269567 UMLS:C5680762 E (Exact mapping: the two concepts are equivalent) UMLS:C5680763 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269570 Genetic syndrome with a Dandy-Walker malformation as a major feature Category ORPHA:269570 UMLS:C5680763 E (Exact mapping: the two concepts are equivalent) UMLS:C5680764 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature Category ORPHA:269573 UMLS:C5680764 E (Exact mapping: the two concepts are equivalent) 6p21.1 KIAA1270 alanine tRNA ligase 2, mitochondrial bA444E17.1 ClinVar:AARS2 Ensembl:ENSG00000124608 Genatlas:AARS2 HGNC:21022 OMIM:612035 Reactome:Q5JTZ9 SwissProt:Q5JTZ9 AARS2 alanyl-tRNA synthetase 2, mitochondrial 17q24.2 DKFZp434F2322 ClinVar:FAM20A Ensembl:ENSG00000108950 Genatlas:FAM20A HGNC:23015 OMIM:611062 Reactome:Q96MK3 SwissProt:Q96MK3 FAM20A FAM20A golgi associated secretory pathway pseudokinase ARC syndrome A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Orphanet ICD-10:Q89.7 ICD-11:5C58.0Y MeSH:C535382 OMIM:208085 OMIM:613404 UMLS:C4551984 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2697 Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697 ICD-10:Q89.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535382 E (Exact mapping: the two concepts are equivalent) OMIM:208085 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613404 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551984 E (Exact mapping: the two concepts are equivalent) 3q24 glycogenin glucosyltransferase ClinVar:GYG1 Ensembl:ENSG00000163754 Genatlas:GYG1 HGNC:4699 OMIM:603942 Reactome:P46976 SwissProt:P46976 GYG1 glycogenin 1 7q22.3 GTC90 ClinVar:COG5 Ensembl:ENSG00000164597 Genatlas:COG5 HGNC:14857 OMIM:606821 Reactome:Q9UP83 SwissProt:Q9UP83 COG5 component of oligomeric golgi complex 5 1q22 DPM synthase complex subunit MGC125904 MGC125905 MGC34275 ClinVar:DPM3 Ensembl:ENSG00000179085 Genatlas:DPM3 HGNC:3007 OMIM:605951 Reactome:Q9P2X0 SwissProt:Q9P2X0 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 16q22.1 COD1 DKFZP586E1519 ClinVar:COG4 Ensembl:ENSG00000103051 Genatlas:COG4 HGNC:18620 OMIM:606976 Reactome:Q9H9E3 SwissProt:Q9H9E3 COG4 component of oligomeric golgi complex 4 Bart-Pumphrey syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness. Orphanet ICD-10:Q82.8 ICD-11:LD2H.Y MeSH:C537210 OMIM:149200 UMLS:C0266004 Childhood Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome ORPHA:2698 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537210 E (Exact mapping: the two concepts are equivalent) OMIM:149200 E (Exact mapping: the two concepts are equivalent) UMLS:C0266004 E (Exact mapping: the two concepts are equivalent) 10q22.3 COLEC5 SP-A2 surfactant, pulmonary-associated protein A2A ClinVar:SFTPA2 Ensembl:ENSG00000185303 Genatlas:SFTPA2 HGNC:10799 OMIM:178642 Reactome:Q8IWL1 SwissProt:Q8IWL1 SFTPA2 surfactant protein A2 A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q18.8 OMIM:151630 UMLS:C1835396 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2699 Median nodule of the upper lip ORPHA:2699 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:151630 E (Exact mapping: the two concepts are equivalent) UMLS:C1835396 E (Exact mapping: the two concepts are equivalent) 17p13.3 14-3-3 epsilon FLJ45465 ClinVar:YWHAE Ensembl:ENSG00000108953 Genatlas:YWHAE HGNC:12851 OMIM:605066 Reactome:P62258 SwissProt:P62258 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 16p13.3 FLJ12681 FLJ22302 JFP11 TMEM112A ClinVar:LMF1 Ensembl:ENSG00000103227 Genatlas:LMF1 HGNC:14154 OMIM:611761 Reactome:Q96S06 SwissProt:Q96S06 LMF1 lipase maturation factor 1 Methylmalonyl-CoA mutase deficiency Methylmalonyl-Coenzyme A mutase deficiency Vitamin B12-unresponsive methylmalonic aciduria Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: <i>mut0</i> and <i>mut-</i> (see these terms). Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C537573 OMIM:251000 UMLS:C2931536 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=27 Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537573 E (Exact mapping: the two concepts are equivalent) OMIM:251000 E (Exact mapping: the two concepts are equivalent) UMLS:C2931536 E (Exact mapping: the two concepts are equivalent) OPMD A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness. Orphanet ICD-10:G71.0 ICD-11:9C82.1 MeSH:D039141 MedDRA:10052181 OMIM:164300 UMLS:C0270952 Autosomal dominant Autosomal recessive Adult Elderly Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 100.0 AND has_point_prevalence_range : >1 / 1000 Specific population AND has_point_prevalence_average_value : 167.0 AND has_point_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=270 Oculopharyngeal muscular dystrophy ORPHA:270 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9C82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D039141 E (Exact mapping: the two concepts are equivalent) MedDRA:10052181 E (Exact mapping: the two concepts are equivalent) OMIM:164300 E (Exact mapping: the two concepts are equivalent) UMLS:C0270952 E (Exact mapping: the two concepts are equivalent) Cancrum oris Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. Orphanet ICD-10:A69.0 ICD-11:DA0C.31 MeSH:D009625 MedDRA:10029502 UMLS:C0028271 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2700 Noma ORPHA:2700 ICD-10:A69.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DA0C.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009625 E (Exact mapping: the two concepts are equivalent) MedDRA:10029502 E (Exact mapping: the two concepts are equivalent) UMLS:C0028271 E (Exact mapping: the two concepts are equivalent) 14q24.3 FLJ32173 MGC16028 ClinVar:IFT43 Ensembl:ENSG00000119650 Genatlas:IFT43 HGNC:29669 OMIM:614068 Reactome:Q96FT9 SwissProt:Q96FT9 IFT43 intraflagellar transport 43 2p11.2 HCAK1 ClinVar:IGKC Ensembl:ENSG00000211592 Genatlas:IGKC HGNC:5716 OMIM:147200 Reactome:P01834 SwissProt:P01834 IGKC immunoglobulin kappa constant 21q22.13 ClinVar:DYRK1A Ensembl:ENSG00000157540 Genatlas:DYRK1A HGNC:3091 IUPHAR:2009 OMIM:600855 Reactome:Q13627 SwissProt:Q13627 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A 11q21 KIAA0092 TSP57 Translokin ClinVar:CEP57 Ensembl:ENSG00000166037 Genatlas:CEP57 HGNC:30794 OMIM:607951 Reactome:Q86XR8 SwissProt:Q86XR8 CEP57 centrosomal protein 57 19p13.2 CXXC9 MCMT ClinVar:DNMT1 Ensembl:ENSG00000130816 Genatlas:DNMT1 HGNC:2976 IUPHAR:2605 OMIM:126375 Reactome:P26358 SwissProt:P26358 DNMT1 DNA methyltransferase 1 15q22.2 HuncM-IC MGC104638 MYO1C myosin-IC ClinVar:MYO1E Ensembl:ENSG00000157483 Genatlas:MYO1E HGNC:7599 OMIM:601479 Reactome:Q12965 SwissProt:Q12965 MYO1E myosin IE 2q31.1 ClinVar:GAD1 Ensembl:ENSG00000128683 Genatlas:GAD1 HGNC:4092 IUPHAR:1272 OMIM:605363 Reactome:Q99259 SwissProt:Q99259 GAD1 glutamate decarboxylase 1 15q21.2 AP-4-EPSILON SPG51 ClinVar:AP4E1 Ensembl:ENSG00000081014 Genatlas:AP4E1 HGNC:573 OMIM:607244 Reactome:Q9UPM8 SwissProt:Q9UPM8 AP4E1 adaptor related protein complex 4 subunit epsilon 1 1p13.2 AP-4 complex subunit beta-1 BETA-4 beta 4 subunit of AP-4 ClinVar:AP4B1 Ensembl:ENSG00000134262 Genatlas:AP4B1 HGNC:572 OMIM:607245 Reactome:Q9Y6B7 SwissProt:Q9Y6B7 AP4B1 adaptor related protein complex 4 subunit beta 1 14q12 AP47B CLA20 SPG52 ClinVar:AP4S1 Ensembl:ENSG00000100478 Genatlas:AP4S1 HGNC:575 OMIM:607243 Reactome:Q9Y587 SwissProt:Q9Y587 AP4S1 adaptor related protein complex 4 subunit sigma 1 1q24.2 PHOX1 ClinVar:PRRX1 Ensembl:ENSG00000116132 Genatlas:PRRX1 HGNC:9142 OMIM:167420 SwissProt:P54821 PRRX1 paired related homeobox 1 Mazzanti syndrome NS/LAH A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y OMIM:607721 OMIM:617506 UMLS:C1843181 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2701 Noonan syndrome-like disorder with loose anagen hair ORPHA:2701 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607721 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617506 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1843181 E (Exact mapping: the two concepts are equivalent) 19p13.3 DFNB95 ClinVar:GIPC3 Ensembl:ENSG00000179855 Genatlas:GIPC3 HGNC:18183 OMIM:608792 SwissProt:Q8TF64 GIPC3 GIPC PDZ domain containing family member 3 Nova syndrome A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. Orphanet ICD-10:Q03.8 UMLS:C5191040 Antenatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome ORPHA:2703 ICD-10:Q03.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191040 E (Exact mapping: the two concepts are equivalent) 4q27 PFM2 ClinVar:PRDM5 Ensembl:ENSG00000138738 Genatlas:PRDM5 HGNC:9349 OMIM:614161 Reactome:Q9NQX1 SwissProt:Q9NQX1 PRDM5 PR/SET domain 5 3p21.31 FLJ13335 ZFYVE7 ClinVar:FYCO1 Ensembl:ENSG00000163820 Genatlas:FYCO1 HGNC:14673 OMIM:607182 Reactome:Q9BQS8 SwissProt:Q9BQS8 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 3p22.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Phospholipase C d1 ClinVar:PLCD1 Ensembl:ENSG00000187091 Genatlas:PLCD1 HGNC:9060 IUPHAR:1409 OMIM:602142 Reactome:P51178 SwissProt:P51178 PLCD1 phospholipase C delta 1 17p11.2 B9 EPPB9 MKS9 MKSR-1 endothelial precursor protein B9 ClinVar:B9D1 Ensembl:ENSG00000108641 Genatlas:B9D1 HGNC:24123 OMIM:614144 Reactome:Q9UPM9 SwissProt:Q9UPM9 B9D1 B9 domain containing 1 12q23.3 SWIP strumpellin and WASH-interacting protein ClinVar:KIAA1033 Ensembl:ENSG00000136051 Genatlas:KIAA1033 HGNC:29174 OMIM:615748 SwissProt:Q2M389 WASHC4 WASH complex subunit 4 Hydronephrosis-inverted smile syndrome Inverted smile-neurogenic bladder syndrome Ochoa facial syndrome Ochoa syndrome Partial facial palsy with urinary abnormalities A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries. Orphanet ICD-10:N31.8 ICD-11:LD2F.1Y MeSH:C536480 OMIM:236730 OMIM:615112 UMLS:C0403555 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2704 Urofacial syndrome ORPHA:2704 ICD-10:N31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536480 E (Exact mapping: the two concepts are equivalent) OMIM:236730 E (Exact mapping: the two concepts are equivalent) OMIM:615112 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0403555 E (Exact mapping: the two concepts are equivalent) 12p12.3 GLEPP1 NPHS6 PTP-U2 PTP-oc PTPU2 osteoclastic transmembrane protein-tyrosine phosphatase ClinVar:PTPRO Ensembl:ENSG00000151490 Genatlas:PTPRO HGNC:9678 IUPHAR:1863 OMIM:600579 Reactome:Q16827 SwissProt:Q16827 PTPRO protein tyrosine phosphatase receptor type O 12q24.31 DFNA64 DIABLO-S FLJ10537 FLJ25049 SMAC second mitochondria-derived activator of caspase ClinVar:DIABLO Ensembl:ENSG00000184047 Genatlas:DIABLO HGNC:21528 OMIM:605219 Reactome:Q9NR28 SwissProt:Q9NR28 DIABLO diablo IAP-binding mitochondrial protein 19q13.32 3M3 DKFZp564K0322 PPP1R20 protein phosphatase 1, regulatory subunit 20 ClinVar:CCDC8 Ensembl:ENSG00000169515 Genatlas:CCDC8 HGNC:25367 OMIM:614145 Reactome:Q9H0W5 SwissProt:Q9H0W5 CCDC8 coiled-coil domain containing 8 22q11.23 CYTSA KIAA0376 cytokinesis and spindle organization A ClinVar:SPECC1L Ensembl:ENSG00000100014 Genatlas:SPECC1L HGNC:29022 OMIM:614140 Reactome:Q69YQ0 SwissProt:Q69YQ0 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like OBSOLETE: Behrens-Baumann-Vogel syndrome OBSOLETE: Microphthalmia-optic nerve aplasia syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated optic nerve aplasia OBSOLETE: Oculocerebral dysplasia ORPHA:2705 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Oculocerebroacral syndrome ORPHA:2706 A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. Orphanet ICD-10:Q87.0 MeSH:C537013 OMIM:244450 UMLS:C1855663 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2707 Oculocerebrofacial syndrome, Kaufman type ORPHA:2707 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537013 E (Exact mapping: the two concepts are equivalent) OMIM:244450 E (Exact mapping: the two concepts are equivalent) UMLS:C1855663 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Plum syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Oculocerebroosseous syndrome ORPHA:2708 Gingival hypertrophy-corneal dystrophy Rutherfurd syndrome Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait. Orphanet ICD-10:Q87.8 ICD-11:9A70.Y MeSH:C537732 OMIM:180900 UMLS:C0796140 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2709 Oculodental syndrome, Rutherfurd type ORPHA:2709 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537732 E (Exact mapping: the two concepts are equivalent) OMIM:180900 E (Exact mapping: the two concepts are equivalent) UMLS:C0796140 E (Exact mapping: the two concepts are equivalent) Meyer-Schwickerath syndrome Meyer-Schwickerath-Weyers syndrome ODDD syndrome ODOD syndrome Oculo-dento-digital dysplasia Oculodentodigital syndrome Oculodentodigitalis dysplasia Oculodentoosseous dysplasia Osseous-oculo-dental dysplasia A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C563160 MedDRA:10063691 OMIM:164200 OMIM:257850 UMLS:C0812437 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 243.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2710 Oculodentodigital dysplasia ORPHA:2710 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563160 E (Exact mapping: the two concepts are equivalent) MedDRA:10063691 E (Exact mapping: the two concepts are equivalent) OMIM:164200 E (Exact mapping: the two concepts are equivalent) OMIM:257850 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0812437 E (Exact mapping: the two concepts are equivalent) Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome OFCD syndrome Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease. Orphanet ICD-10:Q87.8 ICD-11:LD21.0 OMIM:300166 UMLS:C1846265 X-linked dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2712 Oculofaciocardiodental syndrome ORPHA:2712 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300166 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1846265 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. Orphanet ICD-10:Q87.5 ICD-11:LD27.0Y MeSH:C565893 OMIM:211370 UMLS:C1859385 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2713 Oculoosteocutaneous syndrome ORPHA:2713 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565893 E (Exact mapping: the two concepts are equivalent) OMIM:211370 E (Exact mapping: the two concepts are equivalent) UMLS:C1859385 E (Exact mapping: the two concepts are equivalent) Oculo-palato-cerebral dwarfism Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:C564935 OMIM:257910 UMLS:C1850338 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2714 Oculo-palato-cerebral syndrome ORPHA:2714 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564935 E (Exact mapping: the two concepts are equivalent) OMIM:257910 E (Exact mapping: the two concepts are equivalent) UMLS:C1850338 E (Exact mapping: the two concepts are equivalent) Hunter-Jurenka-Thompson syndrome ORC syndrome Oculorenocerebellar syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q04.8 MeSH:C537739 OMIM:257970 UMLS:C1850331 Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2715 Severe oculo-renal-cerebellar syndrome ORPHA:2715 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537739 E (Exact mapping: the two concepts are equivalent) OMIM:257970 E (Exact mapping: the two concepts are equivalent) UMLS:C1850331 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Oculo-skeletal-renal syndrome ORPHA:2716 MOTA syndrome Manitoba oculotrichoanal syndrome Marles syndrome Marles-Greenberg-Persaud syndrome Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal. Orphanet ICD-10:Q87.8 MeSH:C536022 OMIM:248450 UMLS:C1855425 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2717 Oculotrichoanal syndrome ORPHA:2717 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536022 E (Exact mapping: the two concepts are equivalent) OMIM:248450 E (Exact mapping: the two concepts are equivalent) UMLS:C1855425 E (Exact mapping: the two concepts are equivalent) Cecato de Lima-Pinheiro syndrome A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C564934 OMIM:257960 UMLS:C1850332 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2718 Oculotrichodysplasia ORPHA:2718 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564934 E (Exact mapping: the two concepts are equivalent) OMIM:257960 E (Exact mapping: the two concepts are equivalent) UMLS:C1850332 E (Exact mapping: the two concepts are equivalent) Genetic mesenchymal tumor UMLS:C5679760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271832 Genetic soft tissue tumor Category ORPHA:271832 UMLS:C5679760 E (Exact mapping: the two concepts are equivalent) UMLS:C5680757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271835 Genetic digestive tract tumor Category ORPHA:271835 UMLS:C5680757 E (Exact mapping: the two concepts are equivalent) UMLS:C5680756 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271841 Genetic cardiac tumor Category ORPHA:271841 UMLS:C5680756 E (Exact mapping: the two concepts are equivalent) UMLS:C5680761 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271844 Genetic urogenital tumor Category ORPHA:271844 UMLS:C5680761 E (Exact mapping: the two concepts are equivalent) UMLS:C5680760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271847 Genetic neuroendocrine tumor Category ORPHA:271847 UMLS:C5680760 E (Exact mapping: the two concepts are equivalent) UMLS:C5680759 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271853 Genetic cardiac anomaly Category ORPHA:271853 UMLS:C5680759 E (Exact mapping: the two concepts are equivalent) ATTRv amyloidosis Familial TTR-related amyloidosis Familial transthyretin-related amyloidosis Hereditary TTR amyloid polyneuropathy Hereditary TTR amyloidosis Hereditary transthyretin amyloid polyneuropathy hATTR A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. Orphanet ICD-10:E85.1 ICD-11:5D00.20 OMIM:105210 UMLS:C5679761 Autosomal dominant Argentina AND has_point_prevalence_average_value : 0.1474 AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 0.147 AND has_point_prevalence_range : 1-9 / 1 000 000 Austria AND has_point_prevalence_average_value : 0.1511 AND has_point_prevalence_range : 1-9 / 1 000 000 Bangladesh AND has_point_prevalence_average_value : 0.1484 AND has_point_prevalence_range : 1-9 / 1 000 000 Belgium AND has_point_prevalence_average_value : 0.1504 AND has_point_prevalence_range : 1-9 / 1 000 000 Bulgaria AND has_point_prevalence_average_value : 0.5694 AND has_point_prevalence_range : 1-9 / 1 000 000 Canada AND has_point_prevalence_average_value : 0.1476 AND has_point_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.1481 AND has_point_prevalence_range : 1-9 / 1 000 000 Cyprus AND has_point_prevalence_average_value : 4.25 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 0.1509 AND has_point_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 0.1403 AND has_point_prevalence_range : 1-9 / 1 000 000 Ecuador AND has_point_prevalence_average_value : 0.149 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.1454 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.7514 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.1486 AND has_point_prevalence_range : 1-9 / 1 000 000 Greece AND has_point_prevalence_average_value : 0.1481 AND has_point_prevalence_range : 1-9 / 1 000 000 Hungary AND has_point_prevalence_average_value : 0.153 AND has_point_prevalence_range : 1-9 / 1 000 000 India AND has_point_prevalence_average_value : 0.1481 AND has_point_prevalence_range : 1-9 / 1 000 000 Ireland AND has_point_prevalence_average_value : 0.1578 AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_point_prevalence_average_value : 0.1428 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.9046 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.0968 AND has_point_prevalence_range : <1 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.1482 AND has_point_prevalence_range : 1-9 / 1 000 000 Luxembourg AND has_point_prevalence_average_value : 0.1666 AND has_point_prevalence_range : 1-9 / 1 000 000 Malaysia AND has_point_prevalence_average_value : 0.1485 AND has_point_prevalence_range : 1-9 / 1 000 000 Mexico AND has_point_prevalence_average_value : 0.148 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.2662 AND has_point_prevalence_range : 1-9 / 1 000 000 New Zealand AND has_point_prevalence_average_value : 0.1521 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 0.1473 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 19.9126 AND has_point_prevalence_range : 1-5 / 10 000 Romania AND has_point_prevalence_average_value : 0.1464 AND has_point_prevalence_range : 1-9 / 1 000 000 Russian Federation AND has_point_prevalence_average_value : 0.1485 AND has_point_prevalence_range : 1-9 / 1 000 000 Slovenia AND has_point_prevalence_average_value : 0.1428 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.1487 AND has_point_prevalence_range : 1-9 / 1 000 000 Sri Lanka AND has_point_prevalence_average_value : 0.1476 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 2.5816 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_lifetime_prevalence_average_value : 0.1445 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 0.1489 AND has_point_prevalence_range : 1-9 / 1 000 000 Turkey AND has_point_prevalence_average_value : 0.0317 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.149 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.2222 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271861 Hereditary ATTR amyloidosis ORPHA:271861 ICD-10:E85.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:105210 E (Exact mapping: the two concepts are equivalent) UMLS:C5679761 E (Exact mapping: the two concepts are equivalent) UMLS:C5680758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=271870 Rare genetic systemic or rheumatologic disease Category ORPHA:271870 UMLS:C5680758 E (Exact mapping: the two concepts are equivalent) Cross syndrome Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:257800 UMLS:C2936910 Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2719 Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:257800 E (Exact mapping: the two concepts are equivalent) UMLS:C2936910 E (Exact mapping: the two concepts are equivalent) FCMD FKTN-related congenital muscular dystrophy Fukuyama congenital muscular dystrophy A rare congenital progressive muscular dystrophy often characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. Orphanet ICD-10:G71.0 ICD-11:8C70.6 OMIM:253800 UMLS:C0410174 Autosomal recessive Infancy Japan AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=272 Congenital muscular dystrophy, Fukuyama type ORPHA:272 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:253800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0410174 E (Exact mapping: the two concepts are equivalent) Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. Orphanet ICD-10:E70.3 MeSH:C537866 OMIM:257790 UMLS:C2931646 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2720 Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537866 E (Exact mapping: the two concepts are equivalent) OMIM:257790 E (Exact mapping: the two concepts are equivalent) UMLS:C2931646 E (Exact mapping: the two concepts are equivalent) OODD A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis). Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C537742 OMIM:257980 UMLS:C0796093 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2721 Odonto-onycho-dermal dysplasia ORPHA:2721 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537742 E (Exact mapping: the two concepts are equivalent) OMIM:257980 E (Exact mapping: the two concepts are equivalent) UMLS:C0796093 E (Exact mapping: the two concepts are equivalent) Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y UMLS:C4706599 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2722 Odonto-onycho dysplasia-alopecia syndrome ORPHA:2722 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706599 E (Exact mapping: the two concepts are equivalent) Freire-Maia syndrome A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C535637 OMIM:273400 UMLS:C2930960 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2723 Odontotrichomelic syndrome ORPHA:2723 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535637 E (Exact mapping: the two concepts are equivalent) OMIM:273400 E (Exact mapping: the two concepts are equivalent) UMLS:C2930960 E (Exact mapping: the two concepts are equivalent) Boder syndrome Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Orphanet ICD-10:D16.5 MeSH:C537740 OMIM:164330 UMLS:C1834013 No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2724 Odontomatosis-aortae esophagus stenosis syndrome ORPHA:2724 ICD-10:D16.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537740 E (Exact mapping: the two concepts are equivalent) OMIM:164330 E (Exact mapping: the two concepts are equivalent) UMLS:C1834013 E (Exact mapping: the two concepts are equivalent) Al Gazali-Al Talabani syndrome Al Gazali-Lytle syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type OMIM:609465 Eye defects-arachnodactyly-cardiopathy syndrome ORPHA:2725 OMIM:609465 E (Exact mapping: the two concepts are equivalent) BMRS, Ohdo type Blepharophimosis syndrome, Ohdo type Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536232 OMIM:249620 UMLS:C0796094 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2728 Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536232 E (Exact mapping: the two concepts are equivalent) OMIM:249620 E (Exact mapping: the two concepts are equivalent) UMLS:C0796094 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome MeSH:C565736 Okamoto syndrome ORPHA:2729 MeSH:C565736 E (Exact mapping: the two concepts are equivalent) Myotonic dystrophy type 1 Steinert disease A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Orphanet ICD-10:G71.1 ICD-11:8C71.0 MeSH:C538008 OMIM:160900 UMLS:C3250443 Autosomal dominant Adolescent Adult Antenatal Childhood Infancy Neonatal Croatia AND has_point_prevalence_average_value : 18.1 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 11.95 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 9.31 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 9.13 AND has_point_prevalence_range : 1-9 / 100 000 Serbia AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Serbia AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000 South Africa AND has_point_prevalence_average_value : 14.3 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 210.5 AND has_point_prevalence_range : >1 / 1000 Specific population AND has_point_prevalence_average_value : 5.7 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 76.3 AND has_point_prevalence_range : 6-9 / 10 000 Taiwan, Province of China AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 10.4 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=273 Steinert myotonic dystrophy ORPHA:273 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538008 E (Exact mapping: the two concepts are equivalent) OMIM:160900 E (Exact mapping: the two concepts are equivalent) UMLS:C3250443 E (Exact mapping: the two concepts are equivalent) Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q73.8 MeSH:C566767 OMIM:176240 UMLS:C1867924 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2730 Postaxial tetramelic oligodactyly ORPHA:2730 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566767 E (Exact mapping: the two concepts are equivalent) OMIM:176240 E (Exact mapping: the two concepts are equivalent) UMLS:C1867924 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypohidrotic ectodermal dysplasia MeSH:C536945 OMIM:272980 UMLS:C1848909 Taurodontia-absent teeth-sparse hair syndrome ORPHA:2731 MeSH:C536945 E (Exact mapping: the two concepts are equivalent) OMIM:272980 E (Exact mapping: the two concepts are equivalent) UMLS:C1848909 E (Exact mapping: the two concepts are equivalent) Olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. Orphanet ICD-10:Q04.8 ICD-11:LD2H.Y UMLS:C4275113 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2732 Olivopontocerebellar atrophy-deafness syndrome ORPHA:2732 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275113 E (Exact mapping: the two concepts are equivalent) Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Orphanet ICD-10:Q78.8 ICD-11:LD24.A OMIM:164745 OMIM:258315 UMLS:C4510897 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2733 Omodysplasia ORPHA:2733 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:164745 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:258315 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4510897 E (Exact mapping: the two concepts are equivalent) Czeizel syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. Orphanet ICD-10:Q87.8 MeSH:C537747 OMIM:258320 UMLS:C1850317 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2736 Lethal omphalocele-cleft palate syndrome ORPHA:2736 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537747 E (Exact mapping: the two concepts are equivalent) OMIM:258320 E (Exact mapping: the two concepts are equivalent) UMLS:C1850317 E (Exact mapping: the two concepts are equivalent) A form of filariasis, caused by the parasitic worm <i> Onchocerca volvulus</i>, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. Orphanet ICD-10:B73 ICD-11:1F6A MeSH:D009855 MedDRA:10030314 UMLS:C0029001 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Specific population AND has_point_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2737 Onchocerciasis ORPHA:2737 ICD-10:B73 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F6A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009855 E (Exact mapping: the two concepts are equivalent) MedDRA:10030314 E (Exact mapping: the two concepts are equivalent) UMLS:C0029001 E (Exact mapping: the two concepts are equivalent) Itin syndrome ONMR syndrome Trichothiodystrophy type G This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy OMIM:258360 UMLS:C1850316 Onycho-tricho-dysplasia-neutropenia syndrome ORPHA:2739 OMIM:258360 E (Exact mapping: the two concepts are equivalent) UMLS:C1850316 E (Exact mapping: the two concepts are equivalent) 16q24.3 ANCO-1 ANCO1 LZ16 T13 ankyrin repeats containing cofactor 1 ClinVar:ANKRD11 Ensembl:ENSG00000167522 Genatlas:ANKRD11 HGNC:21316 OMIM:611192 SwissProt:Q6UB99 ANKRD11 ankyrin repeat domain containing 11 Giant platelet syndrome Hemorrhagiparous thrombocytic dystrophy A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination. Orphanet ICD-10:D69.1 ICD-11:3B62.01 MeSH:D001606 MedDRA:10057473 OMIM:153670 OMIM:231200 UMLS:C0005129 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=274 Bernard-Soulier syndrome ORPHA:274 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3B62.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D001606 E (Exact mapping: the two concepts are equivalent) MedDRA:10057473 E (Exact mapping: the two concepts are equivalent) OMIM:153670 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:231200 E (Exact mapping: the two concepts are equivalent) UMLS:C0005129 E (Exact mapping: the two concepts are equivalent) 17q25.3 DCR HCR2 KIDCR P34H SDR20C1 human carbonyl reductase 2 kidney dicarbonyl reductase short chain dehydrogenase/reductase family 20C, member 1 sperm surface protein P34H ClinVar:DCXR Ensembl:ENSG00000169738 Genatlas:DCXR HGNC:18985 OMIM:608347 Reactome:Q7Z4W1 SwissProt:Q7Z4W1 DCXR dicarbonyl and L-xylulose reductase OMM syndrome Pillay syndrome Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Orphanet ICD-10:Q87.8 ICD-11:9A70.Y MeSH:C563501 OMIM:164900 UMLS:C1833872 No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2741 Ophthalmomandibulomelic dysplasia ORPHA:2741 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563501 E (Exact mapping: the two concepts are equivalent) OMIM:164900 E (Exact mapping: the two concepts are equivalent) UMLS:C1833872 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome ORPHA:2742 3q21.3 NFE1B ClinVar:GATA2 Ensembl:ENSG00000179348 Genatlas:GATA2 HGNC:4171 OMIM:137295 Reactome:P23769 SwissProt:P23769 GATA2 GATA binding protein 2 12q24.11 FLJ21127 JBTS13 TECT1 ClinVar:TCTN1 Ensembl:ENSG00000204852 Genatlas:TCTN1 HGNC:26113 OMIM:609863 Reactome:Q2MV58 SwissProt:Q2MV58 TCTN1 tectonic family member 1 6p24.2 RP62 dJ417M14.2 ClinVar:MAK Ensembl:ENSG00000111837 Genatlas:MAK HGNC:6816 IUPHAR:2061 OMIM:154235 Reactome:P20794 SwissProt:P20794 MAK male germ cell associated kinase Levic-Stefanovic-Nikolic syndrome A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:H51.2 OMIM:165150 UMLS:C5190740 Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743 ICD-10:H51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:165150 E (Exact mapping: the two concepts are equivalent) UMLS:C5190740 E (Exact mapping: the two concepts are equivalent) HGPPS Progressive external ophthalmoplegia and scoliosis Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. Orphanet ICD-10:H49.4 ICD-11:9C83.00 OMIM:607313 OMIM:617542 UMLS:C1846496 Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2744 Horizontal gaze palsy with progressive scoliosis ORPHA:2744 ICD-10:H49.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C83.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607313 E (Exact mapping: the two concepts are equivalent) OMIM:617542 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1846496 E (Exact mapping: the two concepts are equivalent) Hypertelorism-hypospadias syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypospadias-dysphagia syndrome Opitz BBB/G syndrome Opitz BBBG syndrome Opitz G/BBB syndrome Opitz-Frias syndrome A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias. Orphanet ICD-10:Q87.8 OMIM:300000 UMLS:C2936904 X-linked recessive Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2745 Opitz GBBB syndrome ORPHA:2745 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2936904 E (Exact mapping: the two concepts are equivalent) Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. Orphanet ICD-10:Q78.8 ICD-11:LD24.5Y MeSH:C537122 OMIM:258480 UMLS:C0432219 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2746 Opsismodysplasia ORPHA:2746 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537122 E (Exact mapping: the two concepts are equivalent) OMIM:258480 E (Exact mapping: the two concepts are equivalent) UMLS:C0432219 E (Exact mapping: the two concepts are equivalent) Oroacral syndrome Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Orphanet UMLS:C5679764 Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2749 Oromandibular-limb hypogenesis syndrome Clinical group ORPHA:2749 UMLS:C5679764 E (Exact mapping: the two concepts are equivalent) SCID due to ARTEMIS deficiency SCID due to DCLRE1C deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to ARTEMIS deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Orphanet ICD-10:D81.1 ICD-11:4A01.10 MeSH:C536786 OMIM:602450 UMLS:C1865371 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275 Severe combined immunodeficiency due to DCLRE1C deficiency ORPHA:275 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536786 E (Exact mapping: the two concepts are equivalent) OMIM:602450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1865371 E (Exact mapping: the two concepts are equivalent) OFD1 OFDI OFDSI Oral-facial-digital syndrome type 1 Papillon-Léage-Psaume syndrome Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. Orphanet ICD-10:Q87.0 ICD-11:LD25.00 MeSH:C537134 OMIM:311200 UMLS:C1510460 Not applicable X-linked dominant Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2750 Orofaciodigital syndrome type 1 ORPHA:2750 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537134 E (Exact mapping: the two concepts are equivalent) OMIM:311200 E (Exact mapping: the two concepts are equivalent) UMLS:C1510460 E (Exact mapping: the two concepts are equivalent) Mohr syndrome OFD2 Oral-facial-digital syndrome type 2 Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. Orphanet ICD-10:Q87.0 ICD-11:LD25.00 MeSH:C538585 MedDRA:10078419 OMIM:252100 UMLS:C0026363 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2751 Orofaciodigital syndrome type 2 ORPHA:2751 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538585 E (Exact mapping: the two concepts are equivalent) MedDRA:10078419 E (Exact mapping: the two concepts are equivalent) OMIM:252100 E (Exact mapping: the two concepts are equivalent) UMLS:C0026363 E (Exact mapping: the two concepts are equivalent) OFD3 Oral-facial-digital syndrome type 3 Sugarman syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Orofaciodigital syndrome type 6 MeSH:C557817 OMIM:258850 UMLS:C0406726 Orofaciodigital syndrome type 3 ORPHA:2752 MeSH:C557817 E (Exact mapping: the two concepts are equivalent) OMIM:258850 E (Exact mapping: the two concepts are equivalent) UMLS:C0406726 E (Exact mapping: the two concepts are equivalent) Baraitser-Burn syndrome Mohr-Majewski syndrome OFD4 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet. Orphanet ICD-10:Q87.0 ICD-11:LD25.00 MeSH:C537133 OMIM:258860 UMLS:C0406727 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2753 Orofaciodigital syndrome type 4 ORPHA:2753 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537133 E (Exact mapping: the two concepts are equivalent) OMIM:258860 E (Exact mapping: the two concepts are equivalent) UMLS:C0406727 E (Exact mapping: the two concepts are equivalent) Joubert syndrome with oral-facial-digital syndrome Joubert syndrome with orofaciodigital defect OFD6 Oral-facial-digital syndrome type 6 Polydactyly-cleft lip/palate-psychomotor retardation syndrome Váradi syndrome Váradi-Papp syndrome Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. Orphanet ICD-10:Q04.3 ICD-11:LD25.00 MeSH:C536531 OMIM:277170 OMIM:300804 OMIM:614815 OMIM:615665 OMIM:617127 OMIM:618763 UMLS:C2745997 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2754 Orofaciodigital syndrome type 6 ORPHA:2754 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536531 E (Exact mapping: the two concepts are equivalent) OMIM:277170 E (Exact mapping: the two concepts are equivalent) OMIM:300804 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614815 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615665 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617127 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618763 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2745997 E (Exact mapping: the two concepts are equivalent) OFD8 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome, Edwards type Orofaciodigital syndrome, Edwards type Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. Orphanet ICD-10:Q87.0 ICD-11:LD25.00 MeSH:C557820 OMIM:300484 UMLS:C0796101 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2755 Orofaciodigital syndrome type 8 ORPHA:2755 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C557820 E (Exact mapping: the two concepts are equivalent) OMIM:300484 E (Exact mapping: the two concepts are equivalent) UMLS:C0796101 E (Exact mapping: the two concepts are equivalent) ALPS-recurrent viral infections due to CASP8 deficiency Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency CEDS Caspase 8 deficiency syndrome A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. Orphanet ICD-10:D47.9 ICD-11:4A01.22 OMIM:607271 UMLS:C1846545 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency ORPHA:275517 ICD-10:D47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607271 E (Exact mapping: the two concepts are equivalent) UMLS:C1846545 E (Exact mapping: the two concepts are equivalent) DALD Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. Orphanet ICD-10:D47.9 MeSH:C535950 OMIM:605233 UMLS:C2931071 Unknown All ages Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275523 Dianzani autoimmune lymphoproliferative disease ORPHA:275523 ICD-10:D47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535950 E (Exact mapping: the two concepts are equivalent) OMIM:605233 E (Exact mapping: the two concepts are equivalent) UMLS:C2931071 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare genetic disease OBSOLETE: Myostatin-related muscle hypertrophy ORPHA:275534 CRASH syndrome Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome L1CAM syndrome A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. Orphanet ICD-10:Q04.8 ICD-11:LD90.Y OMIM:303350 OMIM:304100 OMIM:307000 UMLS:C5779710 X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275543 L1 syndrome ORPHA:275543 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:303350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:304100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:307000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5779710 E (Exact mapping: the two concepts are equivalent) A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. Orphanet ICD-10:O14.0 ICD-10:O14.1 ICD-10:O14.2 ICD-10:O14.9 ICD-11:JA24 ICD-11:JA24.0 ICD-11:JA24.1 MeSH:D011225 MedDRA:10036485 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614595 UMLS:C0032914 Not applicable Adult Europe AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275555 Preeclampsia ORPHA:275555 ICD-10:O14.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:O14.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:O14.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:O14.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JA24 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JA24.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JA24.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011225 E (Exact mapping: the two concepts are equivalent) MedDRA:10036485 E (Exact mapping: the two concepts are equivalent) OMIM:189800 E (Exact mapping: the two concepts are equivalent) OMIM:609402 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609403 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609404 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614595 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0032914 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Figuera syndrome OBSOLETE: OFD10 OBSOLETE: Oral-facial-digital syndrome type 10 OBSOLETE: Orofaciodigital syndrome with fibular aplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofaciodigital syndrome OBSOLETE: Orofaciodigital syndrome type 10 ORPHA:2756 Rare bleeding disorder due to a constitutional thrombocytopenia Rare bleeding disorder due to a quantitative platelet defect Rare coagulopathy due to a constitutional thrombocytopenia Rare coagulopathy due to a quantitative platelet defect Rare hemorrhagic disorder due to a quantitative platelet defect UMLS:C5679757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia Category ORPHA:275729 UMLS:C5679757 E (Exact mapping: the two concepts are equivalent) Rare bleeding disorder due to a constitutional thrombopathy Rare bleeding disorder due to a qualitative platelet defect Rare coagulopathy due to a constitutional thrombopathy Rare coagulopathy due to a qualitative platelet defect Rare hemorrhagic disorder due to a constitutional thrombopathy UMLS:C5679758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275736 Rare hemorrhagic disorder due to a qualitative platelet defect Category ORPHA:275736 UMLS:C5679758 E (Exact mapping: the two concepts are equivalent) UMLS:C5680750 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275742 Genetic infertility Category ORPHA:275742 UMLS:C5680750 E (Exact mapping: the two concepts are equivalent) ICD-10:D56.0 UMLS:C5680751 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275745 Alpha-thalassemia and related disorders Category ORPHA:275745 ICD-10:D56.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680751 E (Exact mapping: the two concepts are equivalent) ICD-10:D56.1 UMLS:C5680748 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275749 Beta-thalassemia and related diseases Category ORPHA:275749 ICD-10:D56.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680748 E (Exact mapping: the two concepts are equivalent) ICD-10:D57.0 UMLS:C5680749 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275752 Sickle cell disease and related diseases Category ORPHA:275752 ICD-10:D57.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680749 E (Exact mapping: the two concepts are equivalent) LAL deficiency LALD A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis. Orphanet ICD-10:E75.5 ICD-11:5C56.0Y MedDRA:10077267 OMIM:278000 UMLS:C5574740 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Czech Republic AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275761 Lysosomal acid lipase deficiency ORPHA:275761 ICD-10:E75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10077267 E (Exact mapping: the two concepts are equivalent) OMIM:278000 E (Exact mapping: the two concepts are equivalent) UMLS:C5574740 E (Exact mapping: the two concepts are equivalent) IPAH Primary pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. Orphanet ICD-10:I27.0 ICD-11:BB01.0 MedDRA:10065151 UMLS:C3203102 Not applicable All ages Belgium AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.59 AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Israel AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.56 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_point_prevalence_average_value : 0.86 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275766 Idiopathic pulmonary arterial hypertension Etiological subtype ORPHA:275766 ICD-10:I27.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BB01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065151 E (Exact mapping: the two concepts are equivalent) UMLS:C3203102 E (Exact mapping: the two concepts are equivalent) FPAH Familial pulmonary arterial hypertension HPAH Hereditary pulmonary arterial hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. Orphanet ICD-10:I27.0 ICD-11:BB01.0 MedDRA:10085244 OMIM:178600 OMIM:615342 UMLS:C0340543 Autosomal dominant Autosomal recessive All ages Czech Republic AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275777 Heritable pulmonary arterial hypertension Etiological subtype ORPHA:275777 ICD-10:I27.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BB01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10085244 E (Exact mapping: the two concepts are equivalent) OMIM:178600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615342 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0340543 E (Exact mapping: the two concepts are equivalent) Drug- or toxin-induced PAH Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal. Orphanet UMLS:C0340544 Multigenic/multifactorial Adolescent Adult Childhood Elderly France AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275786 Drug- or toxin-induced pulmonary arterial hypertension Clinical group ORPHA:275786 UMLS:C0340544 E (Exact mapping: the two concepts are equivalent) PAH associated with another disease Secondary PAH Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal. Orphanet UMLS:C5679756 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275791 Pulmonary arterial hypertension associated with another disease Category ORPHA:275791 UMLS:C5679756 E (Exact mapping: the two concepts are equivalent) PAH associated with connective tissue disease A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. Orphanet UMLS:C3697982 Not applicable All ages Czech Republic AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.25 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275798 Pulmonary arterial hypertension associated with connective tissue disease Clinical group ORPHA:275798 UMLS:C3697982 E (Exact mapping: the two concepts are equivalent) PAH associated with congenital heart disease Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. Orphanet UMLS:C3697119 Not applicable All ages Czech Republic AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.57 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.95 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275803 Pulmonary arterial hypertension associated with congenital heart disease Clinical group ORPHA:275803 UMLS:C3697119 E (Exact mapping: the two concepts are equivalent) PAH associated with HIV infaction A form of pulmonary arterial hypertension characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection. Orphanet UMLS:C3697673 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275808 Pulmonary arterial hypertension associated with HIV infection Clinical group ORPHA:275808 UMLS:C3697673 E (Exact mapping: the two concepts are equivalent) PAH associated with portal hypertension POPH Portopulmonary hypertension Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension. Orphanet MedDRA:10067281 UMLS:C1868851 No data available Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275813 Pulmonary arterial hypertension associated with portal hypertension Clinical group ORPHA:275813 MedDRA:10067281 E (Exact mapping: the two concepts are equivalent) UMLS:C1868851 E (Exact mapping: the two concepts are equivalent) PAH associated with schistosomiasis Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term). Orphanet UMLS:C3697477 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275823 Pulmonary arterial hypertension associated with schistosomiasis Clinical group ORPHA:275823 UMLS:C3697477 E (Exact mapping: the two concepts are equivalent) PAH associated with chronic hemolytic anemia Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia. Orphanet UMLS:C3698315 Multigenic/multifactorial Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia Clinical group ORPHA:275828 UMLS:C3698315 E (Exact mapping: the two concepts are equivalent) PH due to lung disease and/or hypoxia PH owing to lung disease and/or hypoxia Pulmonary hypertension due to lung disease and/or hypoxia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275837 Pulmonary hypertension owing to lung disease and/or hypoxia Clinical group ORPHA:275837 PH with unclear multifactorial mechanism UMLS:C4509216 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275844 Pulmonary hypertension with unclear multifactorial mechanism Clinical group ORPHA:275844 UMLS:C4509216 E (Exact mapping: the two concepts are equivalent) UMLS:C5680755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275853 Syndrome with pulmonary hypertension as a major feature Category ORPHA:275853 UMLS:C5680755 E (Exact mapping: the two concepts are equivalent) bv-FTD Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. Orphanet ICD-10:G31.0 ICD-11:6D83 OMIM:172700 OMIM:600274 OMIM:600795 OMIM:616437 OMIM:619132 UMLS:C4011788 Autosomal dominant Adult Netherlands AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275864 Behavioral variant of frontotemporal dementia ORPHA:275864 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:172700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600274 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600795 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616437 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619132 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4011788 E (Exact mapping: the two concepts are equivalent) FTD-ALS FTD-MND Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset. Orphanet ICD-10:G31.0 ICD-11:6D83 MeSH:C566288 OMIM:105550 OMIM:608030 OMIM:612069 OMIM:613954 OMIM:615911 OMIM:616437 OMIM:616439 OMIM:619133 OMIM:619141 UMLS:C3888102 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275872 Frontotemporal dementia with motor neuron disease ORPHA:275872 ICD-10:G31.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566288 E (Exact mapping: the two concepts are equivalent) OMIM:105550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612069 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613954 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615911 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616437 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616439 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619133 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619141 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3888102 E (Exact mapping: the two concepts are equivalent) Seghers syndrome Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Orphanet ICD-10:Q87.5 UMLS:C4749770 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2759 Imperforate oropharynx-costovertebral anomalies syndrome ORPHA:2759 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749770 E (Exact mapping: the two concepts are equivalent) HDFN Hemolytic disease of the fetus and newborn https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275938 Hemolytic disease due to fetomaternal alloimmunization Category ORPHA:275938 Anti-K HDN Maternal anti-Kell alloimmunization A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition. Orphanet ICD-10:P55.8 UMLS:C0472751 Infancy Neonatal United Kingdom AND has_annual_incidence_average_value : 116.0 AND has_annual_incidence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=275944 Hemolytic disease of the newborn with Kell alloimmunization ORPHA:275944 ICD-10:P55.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0472751 E (Exact mapping: the two concepts are equivalent) SCIDX1 T-B+ SCID due to gamma chain deficiency T-B+ severe combined immunodeficiency, X-linked Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. Orphanet ICD-10:D81.2 ICD-11:4A01.10 OMIM:300400 UMLS:C4707334 X-linked recessive Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276 T-B+ severe combined immunodeficiency due to gamma chain deficiency ORPHA:276 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300400 E (Exact mapping: the two concepts are equivalent) UMLS:C4707334 E (Exact mapping: the two concepts are equivalent) Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. Orphanet ICD-10:C41.9 MeSH:C537138 OMIM:165660 UMLS:C1833792 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2760 OSLAM syndrome ORPHA:2760 ICD-10:C41.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537138 E (Exact mapping: the two concepts are equivalent) OMIM:165660 E (Exact mapping: the two concepts are equivalent) UMLS:C1833792 E (Exact mapping: the two concepts are equivalent) UMLS:C5680753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276058 Genetic neurodegenerative disease with dementia Category ORPHA:276058 UMLS:C5680753 E (Exact mapping: the two concepts are equivalent) UMLS:C5680752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276061 Genetic frontotemporal degeneration with dementia Category ORPHA:276061 UMLS:C5680752 E (Exact mapping: the two concepts are equivalent) Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure. Orphanet ICD-10:K76.8 UMLS:C4274079 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276066 Bile acid CoA ligase deficiency and defective amidation ORPHA:276066 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274079 E (Exact mapping: the two concepts are equivalent) UMLS:C5680754 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276142 Rare tumor of salivary glands Category ORPHA:276142 UMLS:C5680754 E (Exact mapping: the two concepts are equivalent) A rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy. Orphanet ICD-10:C07 ICD-10:C08.0 ICD-10:C08.1 ICD-10:C08.8 UMLS:C5190832 Adult Austria AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 1.121 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 1.026 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 1.261 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 1.113 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 1.127 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.73 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 1.093 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.986 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.809 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.737 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 1.227 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 1.213 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 0.817 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.786 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.864 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.937 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.899 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.99 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.657 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.919 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.906 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.906 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276145 Malignant epithelial tumor of salivary glands ORPHA:276145 ICD-10:C07 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C08.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C08.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C08.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190832 E (Exact mapping: the two concepts are equivalent) Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction. Orphanet ICD-10:D11.0 ICD-10:D11.7 ICD-11:2E91 ICD-11:2E91.0 ICD-11:2E91.1 OMIM:181030 UMLS:C5190858 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276148 Benign epithelial tumor of salivary glands ORPHA:276148 ICD-10:D11.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D11.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2E91 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2E91.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2E91.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:181030 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190858 E (Exact mapping: the two concepts are equivalent) MEN4 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Orphanet ICD-10:D44.8 ICD-11:2F7A.0 MeSH:C567059 OMIM:610755 UMLS:C1970712 Autosomal dominant Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276152 Multiple endocrine neoplasia type 4 ORPHA:276152 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567059 E (Exact mapping: the two concepts are equivalent) OMIM:610755 E (Exact mapping: the two concepts are equivalent) UMLS:C1970712 E (Exact mapping: the two concepts are equivalent) MEN Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. Orphanet ICD-10:D44.8 ICD-11:2F7A.Y MeSH:D009377 MedDRA:10061299 UMLS:C0027662 Autosomal dominant Not applicable All ages Europe AND has_point_prevalence_range : Unknown Ireland AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276161 Multiple endocrine neoplasia Clinical group ORPHA:276161 ICD-10:D44.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2F7A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009377 E (Exact mapping: the two concepts are equivalent) MedDRA:10061299 E (Exact mapping: the two concepts are equivalent) UMLS:C0027662 E (Exact mapping: the two concepts are equivalent) A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. Orphanet ICD-10:G93.8 ICD-11:8E2Y UMLS:C4706562 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276174 Idiopathic recurrent stupor ORPHA:276174 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706562 E (Exact mapping: the two concepts are equivalent) Cerebellar ataxia with azoospermia and intellectual disability SCA32 An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:613909 UMLS:C3151343 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276183 Spinocerebellar ataxia type 32 ORPHA:276183 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613909 E (Exact mapping: the two concepts are equivalent) UMLS:C3151343 E (Exact mapping: the two concepts are equivalent) SCA35 An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:613908 UMLS:C3888031 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276193 Spinocerebellar ataxia type 35 ORPHA:276193 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613908 E (Exact mapping: the two concepts are equivalent) UMLS:C3888031 E (Exact mapping: the two concepts are equivalent) Asidan SCA36 An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:614153 UMLS:C3472711 Autosomal dominant Adult Worldwide AND has_cases/families_value : 100.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276198 Spinocerebellar ataxia type 36 ORPHA:276198 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614153 E (Exact mapping: the two concepts are equivalent) UMLS:C3472711 E (Exact mapping: the two concepts are equivalent) Familial ectopic ossification POH Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of <i>GNAS</i> gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. Orphanet ICD-10:M61.5 ICD-11:FB31.0 MeSH:C562735 MedDRA:10048902 OMIM:166350 UMLS:C0334041 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2762 Progressive osseous heteroplasia ORPHA:2762 ICD-10:M61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB31.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562735 E (Exact mapping: the two concepts are equivalent) MedDRA:10048902 E (Exact mapping: the two concepts are equivalent) OMIM:166350 E (Exact mapping: the two concepts are equivalent) UMLS:C0334041 E (Exact mapping: the two concepts are equivalent) Arylsulfatase B deficiency, rapidly progressing MPS6, rapidly progressing MPSVI, rapidly progressing Mucopolysaccharidosis type VI, rapidly progressing ICD-10:E76.2 ICD-11:5C56.33 OMIM:253200 UMLS:C5679781 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276212 Mucopolysaccharidosis type 6, rapidly progressing Clinical subtype ORPHA:276212 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.33 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:253200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679781 E (Exact mapping: the two concepts are equivalent) Arylsulfatase B deficiency, slowly progressing MPS6, slowly progressing MPSVI, slowly progressing Mucopolysaccharidosis type VI, slowly progressing ICD-10:E76.2 ICD-11:5C56.33 OMIM:253200 UMLS:C5679780 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276223 Mucopolysaccharidosis type 6, slowly progressing Clinical subtype ORPHA:276223 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.33 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:253200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679780 E (Exact mapping: the two concepts are equivalent) Non-syndromic male infertility due asthenozoospermia Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present. Orphanet ICD-10:N46 OMIM:606766 OMIM:612997 OMIM:614822 OMIM:617576 OMIM:617592 OMIM:617593 OMIM:617959 OMIM:617965 OMIM:618152 OMIM:618153 OMIM:618429 OMIM:618433 OMIM:618643 OMIM:618664 OMIM:618670 OMIM:618745 OMIM:618751 UMLS:C0403811 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276234 Non-syndromic male infertility due to sperm motility disorder ORPHA:276234 ICD-10:N46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606766 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612997 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614822 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617576 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617592 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617593 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617959 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617965 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618152 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618153 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618429 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618433 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618643 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618664 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618670 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618745 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618751 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0403811 E (Exact mapping: the two concepts are equivalent) SCA3, Joseph type Spinocerebellar ataxia type 3, Joseph type Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:109150 UMLS:C0751668 Autosomal dominant Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276238 Machado-Joseph disease type 1 Clinical subtype ORPHA:276238 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:109150 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751668 E (Exact mapping: the two concepts are equivalent) SCA3, Thomas type Spinocerebellar ataxia, Thomas type Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:109150 UMLS:C0751669 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276241 Machado-Joseph disease type 2 Clinical subtype ORPHA:276241 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:109150 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751669 E (Exact mapping: the two concepts are equivalent) SCA3, Machado type Spinocerebellar ataxia type 3, Machado type Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:109150 UMLS:C0751670 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276244 Machado-Joseph disease type 3 Clinical subtype ORPHA:276244 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:109150 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751670 E (Exact mapping: the two concepts are equivalent) OBSOLETE: XPA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group A ORPHA:276249 OBSOLETE: XPB This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group B ORPHA:276252 OBSOLETE: XPC This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group C ORPHA:276255 OBSOLETE: XPD This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group D ORPHA:276258 OBSOLETE: XPE This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group E ORPHA:276261 OBSOLETE: XPF This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group F ORPHA:276264 OBSOLETE: XPG This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group G ORPHA:276267 NON RARE IN EUROPE: Analbuminemia NON RARE IN EUROPE: Bisalbuminemia NON RARE IN EUROPE: FDH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia ORPHA:276271 HHML Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated. Orphanet ICD-10:Q87.3 UMLS:C4749904 Not applicable Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276280 Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749904 E (Exact mapping: the two concepts are equivalent) Gracile bone dysplasia Osteocraniosplenic syndrome Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. Orphanet ICD-10:Q78.0 ICD-11:LD24.D MeSH:C537291 OMIM:602361 UMLS:C1865639 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2763 Osteocraniostenosis ORPHA:2763 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537291 E (Exact mapping: the two concepts are equivalent) OMIM:602361 E (Exact mapping: the two concepts are equivalent) UMLS:C1865639 E (Exact mapping: the two concepts are equivalent) FMNG Familial MNG Familial multinodular goiter syndrome A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors. Orphanet ICD-10:E04.2 OMIM:138800 Autosomal dominant Adolescent Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276399 Familial multinodular goiter ORPHA:276399 ICD-10:E04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:138800 E (Exact mapping: the two concepts are equivalent) König disease Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. Orphanet ICD-10:M93.2 ICD-11:FB82.1 MeSH:D010008 MedDRA:10031231 UMLS:C0029421 Not applicable All ages Europe AND has_point_prevalence_average_value : 35.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2764 Osteochondritis dissecans ORPHA:2764 ICD-10:M93.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D010008 E (Exact mapping: the two concepts are equivalent) MedDRA:10031231 E (Exact mapping: the two concepts are equivalent) UMLS:C0029421 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with caspr2 antibodies ORPHA:276402 Green jaundice Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Orphanet ICD-10:K76.8 OMIM:614156 UMLS:C3279964 Autosomal dominant Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276405 Hyperbiliverdinemia ORPHA:276405 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614156 E (Exact mapping: the two concepts are equivalent) UMLS:C3279964 E (Exact mapping: the two concepts are equivalent) Del(10)(q22.3q23.3) Deletion 10q22.3q23.3 Monosomy 10q22.3q23.3 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. Orphanet ICD-10:Q93.5 ICD-11:LD44.A0 OMIM:612242 UMLS:C4749270 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276413 10q22.3q23.3 microdeletion syndrome ORPHA:276413 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.A0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612242 E (Exact mapping: the two concepts are equivalent) UMLS:C4749270 E (Exact mapping: the two concepts are equivalent) Dup(10)(q22.3q23.3) Trisomy 10q22.3q23.3 A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.90 UMLS:C5190512 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276422 10q22.3q23.3 microduplication syndrome ORPHA:276422 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190512 E (Exact mapping: the two concepts are equivalent) A rare headache characterized by recurrent brief, intense headache attacks occurring exclusively during sleep, typically at the same time of the night, causing the patient to wake up. The pain usually lasts more than 15 minutes after waking. It is mostly bilateral and may be associated with nausea, photophobia, or phonophobia, while characteristically no autonomic symptoms are present. Orphanet ICD-10:G44.8 ICD-11:8A83 MedDRA:10088606 UMLS:C0752150 Not applicable Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276429 Hypnic headache ORPHA:276429 ICD-10:G44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10088606 E (Exact mapping: the two concepts are equivalent) UMLS:C0752150 E (Exact mapping: the two concepts are equivalent) Premature aging appearance-developmental delay-cardiac arrhythmia syndrome Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. Orphanet ICD-10:E34.8 MedDRA:10082376 OMIM:300855 UMLS:C3275447 X-linked dominant X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276432 Ogden syndrome ORPHA:276432 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10082376 E (Exact mapping: the two concepts are equivalent) OMIM:300855 E (Exact mapping: the two concepts are equivalent) UMLS:C3275447 E (Exact mapping: the two concepts are equivalent) LOSMoN Late-onset spinal motor neuronopathy SMAJ Spinal muscular atrophy, Jokela type A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation. Orphanet ICD-10:G12.1 ICD-11:8B60.Y OMIM:615048 UMLS:C5191007 Autosomal dominant Adult Worldwide AND has_cases/families_value : 55.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276435 Lower motor neuron syndrome with late-adult onset ORPHA:276435 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615048 E (Exact mapping: the two concepts are equivalent) UMLS:C5191007 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Cantú syndrome OBSOLETE: Hypertrichotic osteochondrodysplasia ORPHA:2765 FHI Familial hyperinsulinemic hypoglycemia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276525 Familial hyperinsulinism Category ORPHA:276525 Hyperinsulinemic hypoglycemia due to UCP2 deficiency A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. Orphanet ICD-10:E16.1 UMLS:C4303082 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276556 Hyperinsulinism due to UCP2 deficiency ORPHA:276556 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303082 E (Exact mapping: the two concepts are equivalent) Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to <i>ABCC8</i> variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations. Orphanet ICD-10:E16.1 OMIM:256450 UMLS:C4274080 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency ORPHA:276575 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:256450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4274080 E (Exact mapping: the two concepts are equivalent) Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Dominant KATP hyperinsulinism due to Kir6.2 deficiency A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism). Orphanet ICD-10:E16.1 OMIM:601820 UMLS:C4274081 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency ORPHA:276580 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601820 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4274081 E (Exact mapping: the two concepts are equivalent) Diazoxide-resistant hyperinsulinemic hypoglycemia A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal. Orphanet UMLS:C5679778 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276585 Diazoxide-resistant hyperinsulinism Clinical group ORPHA:276585 UMLS:C5679778 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the <i>ABCC8</i> gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Orphanet ICD-10:E16.1 OMIM:256450 UMLS:C5191059 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency ORPHA:276598 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:256450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5191059 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Orphanet ICD-10:E16.1 OMIM:601820 UMLS:C5191060 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency ORPHA:276603 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601820 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5191060 E (Exact mapping: the two concepts are equivalent) NIPHS A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells. Orphanet ICD-10:E16.1 Autosomal dominant Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276608 Non-insulinoma pancreatogenous hypoglycemia syndrome ORPHA:276608 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. Orphanet ICD-10:C74.1 ICD-10:D35.0 UMLS:C4707333 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276621 Sporadic pheochromocytoma/secreting paraganglioma ORPHA:276621 ICD-10:C74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707333 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Sporadic pheochromocytoma/secreting paraganglioma OBSOLETE: Sporadic pheochromocytoma ORPHA:276624 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Sporadic pheochromocytoma/secreting paraganglioma OBSOLETE: Sporadic secreting paraganglioma ORPHA:276627 A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported. Orphanet ICD-10:Q87.0 OMIM:300844 UMLS:C5680787 Autosomal dominant Not applicable Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=276630 Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300844 E (Exact mapping: the two concepts are equivalent) UMLS:C5680787 E (Exact mapping: the two concepts are equivalent) Maroteaux-Le Merrer-Bensahel syndrome Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. Orphanet ICD-10:D16.9 ICD-11:LD24.2Y MeSH:C565076 OMIM:127820 UMLS:C1851956 Autosomal dominant Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2767 Carpotarsal osteochondromatosis ORPHA:2767 ICD-10:D16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565076 E (Exact mapping: the two concepts are equivalent) OMIM:127820 E (Exact mapping: the two concepts are equivalent) UMLS:C1851956 E (Exact mapping: the two concepts are equivalent) Infantile tibia vara Osteochondrosis deformans tibiae Tibia vara Blount Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. Orphanet ICD-10:M92.5 ICD-11:FB82.1 MeSH:C536237 MedDRA:10072255 OMIM:188700 OMIM:259200 UMLS:C0220757 Autosomal recessive Childhood Infancy Worldwide https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2768 Blount disease ORPHA:2768 ICD-10:M92.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536237 E (Exact mapping: the two concepts are equivalent) MedDRA:10072255 E (Exact mapping: the two concepts are equivalent) OMIM:188700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:259200 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220757 E (Exact mapping: the two concepts are equivalent) Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q87.5 ICD-11:LD25.3 MeSH:C564923 OMIM:259250 UMLS:C1850186 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2769 Familial osteodysplasia, Anderson type ORPHA:2769 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564923 E (Exact mapping: the two concepts are equivalent) OMIM:259250 E (Exact mapping: the two concepts are equivalent) UMLS:C1850186 E (Exact mapping: the two concepts are equivalent) ADA deficiency SCID due to adenosine deaminase deficiency Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. Orphanet ICD-10:D81.3 ICD-11:4A01.10 MeSH:C531816 MedDRA:10066367 OMIM:102700 UMLS:C0392607 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=277 Severe combined immunodeficiency due to adenosine deaminase deficiency ORPHA:277 ICD-10:D81.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C531816 E (Exact mapping: the two concepts are equivalent) MedDRA:10066367 E (Exact mapping: the two concepts are equivalent) OMIM:102700 E (Exact mapping: the two concepts are equivalent) UMLS:C0392607 E (Exact mapping: the two concepts are equivalent) NHD PLO-SL PLOSL Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. Orphanet ICD-10:G31.8 ICD-11:8A44.3 MeSH:C536329 OMIM:221770 OMIM:618193 UMLS:C1857316 Autosomal recessive Adolescent Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2770 Nasu-Hakola disease ORPHA:2770 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536329 E (Exact mapping: the two concepts are equivalent) OMIM:221770 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618193 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1857316 E (Exact mapping: the two concepts are equivalent) Osteogenesis imperfecta-congenital joint contractures syndrome A rare genetic bone disease characterized by the association of osteogenesis imperfecta and congenital joint contractures. Orphanet ICD-10:M21.8 ICD-11:LD24.KY MedDRA:10063718 OMIM:259450 OMIM:609220 UMLS:C0432253 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2771 Bruck syndrome ORPHA:2771 ICD-10:M21.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10063718 E (Exact mapping: the two concepts are equivalent) OMIM:259450 E (Exact mapping: the two concepts are equivalent) OMIM:609220 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432253 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q78.0 ICD-11:LD24.KY MeSH:C537558 OMIM:259410 UMLS:C1850184 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537558 E (Exact mapping: the two concepts are equivalent) OMIM:259410 E (Exact mapping: the two concepts are equivalent) UMLS:C1850184 E (Exact mapping: the two concepts are equivalent) Al Gazali-Nair syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q87.8 ICD-11:LD24.KY UMLS:C4302824 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302824 E (Exact mapping: the two concepts are equivalent) Idiopathic multicentric osteolysis with or without nephropathy A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. Orphanet ICD-10:M89.5 ICD-11:FB86.2 MeSH:C567171 OMIM:166300 UMLS:C2674705 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2774 Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C567171 E (Exact mapping: the two concepts are equivalent) OMIM:166300 E (Exact mapping: the two concepts are equivalent) UMLS:C2674705 E (Exact mapping: the two concepts are equivalent) Hereditary multicentric osteolysis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multicentric osteolysis-nodulosis-arthropathy spectrum Autosomal recessive carpotarsal osteolysis ORPHA:2775 Distal osteolysis-short stature-intellectual disability syndrome Petit-Fryns syndrome An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Orphanet ICD-10:M89.5 ICD-11:FB86.2 MeSH:C536052 OMIM:259610 UMLS:C1850143 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2776 Autosomal recessive distal osteolysis syndrome ORPHA:2776 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536052 E (Exact mapping: the two concepts are equivalent) OMIM:259610 E (Exact mapping: the two concepts are equivalent) UMLS:C1850143 E (Exact mapping: the two concepts are equivalent) Axial osteosclerosis Osteomesopycnosis Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. Orphanet ICD-10:Q78.2 ICD-11:LD24.10 MeSH:C537792 OMIM:166450 UMLS:C0432264 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2777 Osteomesopyknosis ORPHA:2777 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537792 E (Exact mapping: the two concepts are equivalent) OMIM:166450 E (Exact mapping: the two concepts are equivalent) UMLS:C0432264 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Juvenile CRMO This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis ORPHA:2778 Whyte-Murphy syndrome A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Orphanet ICD-10:Q77.8 ICD-11:LD2F.1Y MeSH:C536054 UMLS:C2931096 Autosomal dominant X-linked dominant Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome ORPHA:2779 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536054 E (Exact mapping: the two concepts are equivalent) UMLS:C2931096 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Corticobasal syndrome OBSOLETE: Corticobasal degeneration ORPHA:278 Hyperostosis generalisata with striations Robinow-Unger syndrome Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. Orphanet ICD-10:Q78.8 ICD-11:LD24.1Y MeSH:C536053 OMIM:300373 UMLS:C0432268 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2780 Osteopathia striata-cranial sclerosis syndrome ORPHA:2780 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536053 E (Exact mapping: the two concepts are equivalent) OMIM:300373 E (Exact mapping: the two concepts are equivalent) UMLS:C0432268 E (Exact mapping: the two concepts are equivalent) Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. Orphanet ICD-10:Q78.2 ICD-11:LD24.10 MeSH:D010022 MedDRA:10031280 UMLS:C5680905 Autosomal dominant Autosomal recessive X-linked recessive All ages Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2781 Osteopetrosis and related disorders Clinical group ORPHA:2781 ICD-10:Q78.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010022 E (Exact mapping: the two concepts are equivalent) MedDRA:10031280 E (Exact mapping: the two concepts are equivalent) UMLS:C5680905 E (Exact mapping: the two concepts are equivalent) A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. Orphanet ICD-10:Q78.2 ICD-11:LD24.10 MeSH:C536056 OMIM:607634 UMLS:C1843330 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2783 Autosomal dominant osteopetrosis type 1 ORPHA:2783 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536056 E (Exact mapping: the two concepts are equivalent) OMIM:607634 E (Exact mapping: the two concepts are equivalent) UMLS:C1843330 E (Exact mapping: the two concepts are equivalent) Carbonic anhydrase 2 deficiency Guibaud-Vainsel syndrome Marble brain disease Mixed RTA Mixed renal tubular acidosis Renal tubular acidosis type 3 Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. Orphanet ICD-10:Q78.2 ICD-11:LD24.10 MeSH:C536058 OMIM:259730 OMIM:267200 UMLS:C0345407 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2785 Osteopetrosis with renal tubular acidosis ORPHA:2785 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536058 E (Exact mapping: the two concepts are equivalent) OMIM:259730 E (Exact mapping: the two concepts are equivalent) OMIM:267200 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0345407 E (Exact mapping: the two concepts are equivalent) Hernández-Fragoso syndrome OOCHS A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Orphanet ICD-10:Q87.5 ICD-11:LD24.KY MeSH:C536062 OMIM:601220 UMLS:C1832592 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2786 Osteoporosis-oculocutaneous hypopigmentation syndrome ORPHA:2786 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536062 E (Exact mapping: the two concepts are equivalent) OMIM:601220 E (Exact mapping: the two concepts are equivalent) UMLS:C1832592 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Heide syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with decreased bone density OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome ORPHA:2787 OPPG Ocular form of osteogenesis imperfecta A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures. Orphanet ICD-10:Q87.5 ICD-11:LD24.KY MeSH:C536063 MedDRA:10052452 OMIM:259770 UMLS:C0432252 Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2788 Osteoporosis-pseudoglioma syndrome ORPHA:2788 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536063 E (Exact mapping: the two concepts are equivalent) MedDRA:10052452 E (Exact mapping: the two concepts are equivalent) OMIM:259770 E (Exact mapping: the two concepts are equivalent) UMLS:C0432252 E (Exact mapping: the two concepts are equivalent) Lehman syndrome A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal. Orphanet ICD-10:Q87.5 ICD-11:LA07.Y MeSH:C537878 OMIM:130720 UMLS:C1851710 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2789 Lateral meningocele syndrome ORPHA:2789 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA07.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537878 E (Exact mapping: the two concepts are equivalent) OMIM:130720 E (Exact mapping: the two concepts are equivalent) UMLS:C1851710 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Age-related macular degeneration ORPHA:279 Autosomal dominant osteosclerosis, Worth type Worth syndrome A rare sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. Orphanet ICD-10:Q78.2 ICD-11:LD24.1Y MeSH:C536748 OMIM:144750 UMLS:C0432273 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2790 Endosteal hyperostosis, Worth type ORPHA:2790 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536748 E (Exact mapping: the two concepts are equivalent) OMIM:144750 E (Exact mapping: the two concepts are equivalent) UMLS:C0432273 E (Exact mapping: the two concepts are equivalent) Globodontia Otodental dysplasia Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. Orphanet ICD-10:K00.2 ICD-11:LA30.4 MeSH:C563482 OMIM:166750 UMLS:C1833693 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2791 Otodental syndrome ORPHA:2791 ICD-10:K00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563482 E (Exact mapping: the two concepts are equivalent) OMIM:166750 E (Exact mapping: the two concepts are equivalent) UMLS:C1833693 E (Exact mapping: the two concepts are equivalent) Fara-Chlupackova syndrome OFC syndrome Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. Orphanet ICD-10:Q87.0 MeSH:C563481 OMIM:166780 OMIM:615560 UMLS:C1833691 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2792 Otofaciocervical syndrome ORPHA:2792 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563481 E (Exact mapping: the two concepts are equivalent) OMIM:166780 E (Exact mapping: the two concepts are equivalent) OMIM:615560 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1833691 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported. Orphanet ICD-10:Q87.5 ICD-11:LD27.4 MeSH:C564912 OMIM:259780 UMLS:C1850105 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2793 Otoonychoperoneal syndrome ORPHA:2793 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564912 E (Exact mapping: the two concepts are equivalent) OMIM:259780 E (Exact mapping: the two concepts are equivalent) UMLS:C1850105 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial otosclerosis ORPHA:2794 Fowler syndrome Fowler-Christmas-Chapple syndrome A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause. Orphanet ICD-10:N39.8 MeSH:C537271 MedDRA:10071718 UMLS:C2931462 Unknown Adolescent Adult Childhood Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2795 Fowler urethral sphincter dysfunction syndrome ORPHA:2795 ICD-10:N39.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537271 E (Exact mapping: the two concepts are equivalent) MedDRA:10071718 E (Exact mapping: the two concepts are equivalent) UMLS:C2931462 E (Exact mapping: the two concepts are equivalent) PDP Touraine-Solente-Gole syndrome Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, <i>cutis verticis gyrata</i>, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a <i>forme frusta</i> with prominent pachydermia and minimal-to-absent skeletal changes. Orphanet ICD-10:M89.4 ICD-11:FB86.10 MedDRA:10051686 OMIM:167100 OMIM:259100 OMIM:614441 UMLS:C0029411 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 204.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2796 Pachydermoperiostosis ORPHA:2796 ICD-10:M89.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:FB86.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10051686 E (Exact mapping: the two concepts are equivalent) OMIM:167100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:259100 E (Exact mapping: the two concepts are equivalent) OMIM:614441 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0029411 E (Exact mapping: the two concepts are equivalent) 3p21.31 KIAA0540 ClinVar:NBEAL2 Ensembl:ENSG00000160796 Genatlas:NBEAL2 HGNC:31928 OMIM:614169 Reactome:Q6ZNJ1 SwissProt:Q6ZNJ1 NBEAL2 neurobeachin like 2 19p13.2 KIAA1395 ZIR1 ClinVar:DOCK6 Ensembl:ENSG00000130158 Genatlas:DOCK6 HGNC:19189 OMIM:614194 Reactome:Q96HP0 SwissProt:Q96HP0 DOCK6 dedicator of cytokinesis 6 20p13 SCA35 TGY dJ734P14.3 protein-glutamine gamma-glutamyltransferase 6 spinocerebellar ataxia 35 ClinVar:TGM6 Ensembl:ENSG00000166948 Genatlas:TGM6 HGNC:16255 OMIM:613900 SwissProt:O95932 TGM6 transglutaminase 6 20p13 SCA36 spinocerebellar ataxia 36 ClinVar:NOP56 Ensembl:ENSG00000101361 Genatlas:NOP56 HGNC:15911 OMIM:614154 Reactome:O00567 SwissProt:O00567 NOP56 NOP56 ribonucleoprotein 11q13.1 CATSPER ClinVar:CATSPER1 Ensembl:ENSG00000175294 Genatlas:CATSPER1 HGNC:17116 IUPHAR:388 OMIM:606389 Reactome:Q8NEC5 SwissProt:Q8NEC5 CATSPER1 cation channel sperm associated 1 19q13.2 MGC4093 MKS10 MKSR-2 ClinVar:B9D2 Ensembl:ENSG00000123810 Genatlas:B9D2 HGNC:28636 OMIM:611951 Reactome:Q9BPU9 SwissProt:Q9BPU9 B9D2 B9 domain containing 2 9q34.3 Alpha 1,2-mannosidase ER alpha 1,2-mannosidase ERMan1 ERManI Endoplasmic reticulum alpha-mannosidase 1 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 MANA-ER MRT15 Man9GlcNAc2-specific processing alpha-mannosidase alpha 1,2-mannosidase endoplasmic Reticulum Class I alpha-mannosidase endoplasmic reticulum alpha-mannosidase 1 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 ClinVar:MAN1B1 Ensembl:ENSG00000177239 Genatlas:MAN1B1 HGNC:6823 OMIM:604346 Reactome:Q9UKM7 SwissProt:Q9UKM7 MAN1B1 mannosidase alpha class 1B member 1 6q23.2 CRSP130 DRIP130 Sur2 ClinVar:MED23 Ensembl:ENSG00000112282 Genatlas:MED23 HGNC:2372 OMIM:605042 Reactome:Q9ULK4 SwissProt:Q9ULK4 MED23 mediator complex subunit 23 2q37.3 UNC104 ClinVar:KIF1A Ensembl:ENSG00000130294 Genatlas:KIF1A HGNC:888 OMIM:601255 Reactome:Q12756 SwissProt:Q12756 KIF1A kinesin family member 1A 11q24.2 CDO CDON1 Ihog ORCAM cell adhesion molecule-related/down-regulated by oncogenes ClinVar:CDON Ensembl:ENSG00000064309 Genatlas:CDON HGNC:17104 OMIM:608707 Reactome:Q4KMG0 SwissProt:Q4KMG0 CDON cell adhesion associated, oncogene regulated 20q13.33 DNAJC5A FLJ00118 FLJ13070 ClinVar:DNAJC5 Ensembl:ENSG00000101152 Genatlas:DNAJC5 HGNC:16235 OMIM:611203 Reactome:Q9H3Z4 SwissProt:Q9H3Z4 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 Kuzniecky syndrome A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. Orphanet ICD-10:G40.4 MeSH:C538091 OMIM:600176 UMLS:C1838491 Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2798 Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538091 E (Exact mapping: the two concepts are equivalent) OMIM:600176 E (Exact mapping: the two concepts are equivalent) UMLS:C1838491 E (Exact mapping: the two concepts are equivalent) 20q13.2 CP24 P450-CC24 lncBCAS1-4_1 ClinVar:CYP24A1 Ensembl:ENSG00000019186 Genatlas:CYP24A1 HGNC:2602 IUPHAR:1365 OMIM:126065 Reactome:Q07973 SwissProt:Q07973 CYP24A1 cytochrome P450 family 24 subfamily A member 1 Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. Orphanet ICD-10:F98.4 ICD-11:8A04.Y MedDRA:10059593 UMLS:C1527306 Unknown Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279882 Spasmus nutans ORPHA:279882 ICD-10:F98.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:8A04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10059593 E (Exact mapping: the two concepts are equivalent) UMLS:C1527306 E (Exact mapping: the two concepts are equivalent) ICD-10:H44.0 ICD-10:H44.1 ICD-11:9C20.2 MedDRA:10000730 UMLS:C0154773 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279888 Acute endophthalmitis Clinical subtype ORPHA:279888 ICD-10:H44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C20.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10000730 E (Exact mapping: the two concepts are equivalent) UMLS:C0154773 E (Exact mapping: the two concepts are equivalent) ICD-10:H44.0 ICD-10:H44.1 ICD-11:9C21 MedDRA:10008864 UMLS:C0154774 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279891 Chronic endophthalmitis Clinical subtype ORPHA:279891 ICD-10:H44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10008864 E (Exact mapping: the two concepts are equivalent) UMLS:C0154774 E (Exact mapping: the two concepts are equivalent) Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquine (CQ) or hydroxychloroquine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. Orphanet ICD-10:H35.3 ICD-10:T37.2 UMLS:C4706522 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279894 Toxic maculopathy due to antimalarial drugs ORPHA:279894 ICD-10:H35.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:T37.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706522 E (Exact mapping: the two concepts are equivalent) Primary oculocerebral non-Hodgkin lymphoma Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits. Orphanet ICD-10:C85.7 ICD-11:2B33.5 UMLS:C5679779 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279897 Primary oculocerebral lymphoma ORPHA:279897 ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B33.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679779 E (Exact mapping: the two concepts are equivalent) PIOL Primary intraocular non-Hodgkin lymphoma ICD-10:C85.7 ICD-11:2B33.5 MeSH:D064090 UMLS:C0281658 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279904 Primary intraocular lymphoma ORPHA:279904 ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B33.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D064090 E (Exact mapping: the two concepts are equivalent) UMLS:C0281658 E (Exact mapping: the two concepts are equivalent) UMLS:C5680788 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279911 Primary organ-specific lymphoma Category ORPHA:279911 UMLS:C5680788 E (Exact mapping: the two concepts are equivalent) IU A rare ophthalmic disorder characterized by intraocular inflammation primarily localized to the vitreous and peripheral retina. It incorporates pars planitis, posterior cyclitis, and hyalitis. Patients present with painless floaters, decreased or blurred vision, less frequently with pain, redness, and photophobia. On examination, snow banking, vitreous snowballs, peripheral retinal vascular sheathing, vitreous cells, and vitreous haze can be seen. Complications include epiretinal membrane formation, cataract formation, cystoid macular edema, or band keratopathy, among others. The condition may be idiopathic or occur in the context of infectious or systemic diseases. Orphanet ICD-10:H30.2 ICD-11:9B66 MeSH:D015867 MedDRA:10022557 UMLS:C0042166 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279914 Intermediate uveitis ORPHA:279914 ICD-10:H30.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B66 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015867 E (Exact mapping: the two concepts are equivalent) MedDRA:10022557 E (Exact mapping: the two concepts are equivalent) UMLS:C0042166 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by inflammation of the posterior uveal tract (retina and choroid), due to an infectious etiology. Presenting symptoms are decreased visual acuity, visual field defects, floaters, photopsia, photophobia, and occasionally pain. Signs on examination include conjunctival injection, keratic precipitates, retrolental cells, inflammatory infiltrates on the retina, macular edema, and peripheral retinal neovascularization, among others. Complications (such as cataracts, band keratopathy, glaucoma, cystoid macula edema, and retinal detachment) may lead to permanent vision loss. Orphanet ICD-10:H32.0 ICD-11:9B65.1 UMLS:C5230265 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279919 Infectious posterior uveitis ORPHA:279919 ICD-10:H32.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B65.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5230265 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by inflammation primarily of the anterior part of the uvea (iris and ciliary body), due to an infectious etiology. Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others. Orphanet ICD-10:H20.0 ICD-10:H20.1 ICD-10:H20.2 ICD-10:H20.8 ICD-10:H20.9 UMLS:C0154911 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279922 Infectious anterior uveitis ORPHA:279922 ICD-10:H20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H20.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0154911 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by generalized inflammation of all parts of the uveal tract (iris, ciliary body, and choroid), simultaneously involving adjacent vitreous and retina, without any predominant site of inflammation, due to viral, bacterial, fungal, or parasitic infections. Clinical symptoms include pain, photophobia, redness, blurring of vision, and floaters. Signs on examination are lid edema, ciliary injection, chemosis, keratic precipitates, cells in the anterior chamber, hypopyon, iris nodules and neovascularization, posterior synechiae, macular edema, vitreous and retinal hemorrhage, and retinal detachment, among others. Complications may result in visual loss. Orphanet ICD-10:H44.1 ICD-11:9C20.1 UMLS:C5230354 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279925 Infectious panuveitis ORPHA:279925 ICD-10:H44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5230354 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by a non-infectious uveitis potentially involving all parts of the uveal tract and due to a paraneoplastic autoimmune reaction. The signs and symptoms usually precede the tumor diagnosis and may include ocular redness and pain, light sensitivity, blurred vision, floaters, and decreased vision. The most classic form is the intermediate uveitis associated with anti-CV2 antibodies in small-cell lung cancer or other neoplasms. Other ocular and/or extra-ocular manifestations are commonly present in addition. Orphanet ICD-10:H57.8 UMLS:C5680786 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279928 Paraneoplastic uveitis ORPHA:279928 ICD-10:H57.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680786 E (Exact mapping: the two concepts are equivalent) A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Orphanet ICD-10:E88.8 OMIM:251880 UMLS:C5191055 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:251880 E (Exact mapping: the two concepts are equivalent) UMLS:C5191055 E (Exact mapping: the two concepts are equivalent) A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome. Orphanet ICD-10:D72.8 MeSH:C563010 OMIM:162830 UMLS:C0543669 Autosomal dominant All ages Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279943 Hereditary neutrophilia ORPHA:279943 ICD-10:D72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563010 E (Exact mapping: the two concepts are equivalent) OMIM:162830 E (Exact mapping: the two concepts are equivalent) UMLS:C0543669 E (Exact mapping: the two concepts are equivalent) POIS Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. Orphanet ICD-10:F52.3 ICD-11:HA02.Y UMLS:C4749582 Not applicable Adolescent Adult Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=279947 Postorgasmic illness syndrome ORPHA:279947 ICD-10:F52.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:HA02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749582 E (Exact mapping: the two concepts are equivalent) Adenosylcobalamin deficiency Vitamin B12-responsive methylmalonic aciduria An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2). Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:251100 OMIM:251110 OMIM:277410 UMLS:C0342720 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 192.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=28 Vitamin B12-responsive methylmalonic acidemia ORPHA:28 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:251100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:251110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:277410 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342720 E (Exact mapping: the two concepts are equivalent) 4p- syndrome Distal deletion 4p Distal monosomy 4p Telomeric deletion 4p A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Orphanet ICD-10:Q93.3 ICD-11:LD44.41 MeSH:D054877 MedDRA:10050361 OMIM:194190 UMLS:C1956097 Multigenic/multifactorial Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280 Wolf-Hirschhorn syndrome ORPHA:280 ICD-10:Q93.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD44.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054877 E (Exact mapping: the two concepts are equivalent) MedDRA:10050361 E (Exact mapping: the two concepts are equivalent) OMIM:194190 E (Exact mapping: the two concepts are equivalent) UMLS:C1956097 E (Exact mapping: the two concepts are equivalent) A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis. Orphanet ICD-10:C44.5 ICD-11:2E64.1 MeSH:D010145 MedDRA:10068223 OMIM:167300 UMLS:C0030186 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2800 Extramammary Paget disease ORPHA:2800 ICD-10:C44.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E64.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010145 E (Exact mapping: the two concepts are equivalent) MedDRA:10068223 E (Exact mapping: the two concepts are equivalent) OMIM:167300 E (Exact mapping: the two concepts are equivalent) UMLS:C0030186 E (Exact mapping: the two concepts are equivalent) A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting. Orphanet ICD-10:E83.5 ICD-11:EB90.42 MeSH:D002115 MedDRA:10051714 UMLS:C0006666 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280062 Calciphylaxis ORPHA:280062 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002115 E (Exact mapping: the two concepts are equivalent) MedDRA:10051714 E (Exact mapping: the two concepts are equivalent) UMLS:C0006666 E (Exact mapping: the two concepts are equivalent) A rare, life-threatening, non-inflammatory vasculopathy characterized clinically by progressive and painful skin lesions associated with calcification of cutaneous arterial microvessels. Calciphylaxis predominantly affects patients with end-stage kidney disease (ESKD) on dialysis. Orphanet ICD-10:E83.5 ICD-11:EB90.42 UMLS:C4274083 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280065 Calciphylaxis cutis Clinical subtype ORPHA:280065 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274083 E (Exact mapping: the two concepts are equivalent) A rare, life-threatening, non-inflammatory vasculopathy characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually causes tissue necrosis. Depending on the affected organ, patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. The disease predominantly affects patients with end-stage kidney disease (ESKD) on dialysis. Orphanet ICD-10:E83.5 ICD-11:EB90.42 UMLS:C4749793 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280068 Visceral calciphylaxis Clinical subtype ORPHA:280068 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749793 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ip CDG-Ip CDG1P Carbohydrate deficient glycoprotein syndrome type Ip Congenital disorder of glycosylation type 1p Congenital disorder of glycosylation type Ip A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene <i>ALG11</i> (13q14.3). Orphanet ICD-10:E77.8 ICD-11:5C54.0 OMIM:613661 UMLS:C3150913 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280071 ALG11-CDG ORPHA:280071 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613661 E (Exact mapping: the two concepts are equivalent) UMLS:C3150913 E (Exact mapping: the two concepts are equivalent) 13q14.3 CDG1P GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase KIAA0266 ClinVar:ALG11 Ensembl:ENSG00000253710 Genatlas:ALG11 HGNC:32456 OMIM:613666 Reactome:Q2TAA5 SwissProt:Q2TAA5 ALG11 ALG11 alpha-1,2-mannosyltransferase 20q13.32 Class VI beta-tubulin class VI beta-tubulin dJ543J19.4 ClinVar:TUBB1 Ensembl:ENSG00000101162 Genatlas:TUBB1 HGNC:16257 OMIM:612901 Reactome:Q9H4B7 SwissProt:Q9H4B7 TUBB1 tubulin beta 1 class VI Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis JPG Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. Orphanet ICD-10:M88.0 ICD-10:M88.8 ICD-10:M88.9 ICD-11:FB85.0 MeSH:C537701 OMIM:239000 UMLS:C0268414 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2801 Juvenile Paget disease ORPHA:2801 ICD-10:M88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M88.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB85.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537701 E (Exact mapping: the two concepts are equivalent) OMIM:239000 E (Exact mapping: the two concepts are equivalent) UMLS:C0268414 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Osteitis deformans This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Paget disease of bone ORPHA:280110 5q35.3 A170 autophagy receptor p62 p60 p62 p62B ClinVar:SQSTM1 Ensembl:ENSG00000161011 Genatlas:SQSTM1 HGNC:11280 IUPHAR:3213 OMIM:601530 Reactome:Q13501 SwissProt:Q13501 SQSTM1 sequestosome 1 C3 deficiency Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. Orphanet ICD-10:D84.1 ICD-11:4A00.1Y OMIM:613779 UMLS:C1332655 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280133 Complement component 3 deficiency ORPHA:280133 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613779 E (Exact mapping: the two concepts are equivalent) UMLS:C1332655 E (Exact mapping: the two concepts are equivalent) SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. Orphanet ICD-10:D81.1 ICD-11:4A01.10 OMIM:615758 UMLS:C5191006 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280142 Severe combined immunodeficiency due to LCK deficiency ORPHA:280142 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615758 E (Exact mapping: the two concepts are equivalent) UMLS:C5191006 E (Exact mapping: the two concepts are equivalent) 1p35.2 ClinVar:LCK Ensembl:ENSG00000182866 Genatlas:LCK HGNC:6524 IUPHAR:2053 OMIM:153390 Reactome:P06239 SwissProt:P06239 LCK LCK proto-oncogene, Src family tyrosine kinase Methylmalonic acidemia, TCb1R type Methylmalonic acidemia, TCbIR type Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Orphanet ICD-10:E71.1 OMIM:613646 UMLS:C4749905 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280183 Methylmalonic aciduria due to transcobalamin receptor defect ORPHA:280183 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613646 E (Exact mapping: the two concepts are equivalent) UMLS:C4749905 E (Exact mapping: the two concepts are equivalent) 19p13.2 8D6 8D6 antigen 8D6A TCII-R TCN2R TCblR Transcobalamin receptor sCD320 soluble CD320 transcobalamin 2 receptor ClinVar:CD320 Ensembl:ENSG00000167775 Genatlas:CD320 HGNC:16692 OMIM:606475 Reactome:Q9NPF0 SwissProt:Q9NPF0 CD320 CD320 molecule Septopreoptic HPE A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery. Orphanet ICD-10:Q04.2 ICD-11:LA05.2 OMIM:157170 OMIM:609637 OMIM:610829 UMLS:C5679777 Multigenic/multifactorial Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280195 Septopreoptic holoprosencephaly Clinical subtype ORPHA:280195 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:157170 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610829 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679777 E (Exact mapping: the two concepts are equivalent) Pagon-Bird-Detter syndrome X-linked sideroblastic anemia with ataxia XLSA-A A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. Orphanet ICD-10:D64.0 ICD-11:3A72.01 MeSH:C536358 OMIM:301310 UMLS:C1845028 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2802 X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802 ICD-10:D64.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A72.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536358 E (Exact mapping: the two concepts are equivalent) OMIM:301310 E (Exact mapping: the two concepts are equivalent) UMLS:C1845028 E (Exact mapping: the two concepts are equivalent) HPE, minor form HPE-L Holoprosencephaly, minor form Holoprosencephaly-like Microform HPE A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. Orphanet ICD-10:Q04.2 ICD-11:LA05.2 OMIM:147250 OMIM:157170 OMIM:609637 OMIM:610829 UMLS:C5393309 Multigenic/multifactorial Childhood Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280200 Microform holoprosencephaly ORPHA:280200 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:147250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:157170 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610829 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5393309 E (Exact mapping: the two concepts are equivalent) LTEC0 Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course. Orphanet ICD-10:Q32.1 ICD-11:LA72 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280205 Laryngotracheoesophageal cleft type 0 Clinical subtype ORPHA:280205 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA72 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Connatal PMD Pelizaeus-Merzbacher disease type II Severe PMD The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term). Orphanet ICD-10:E75.2 ICD-11:8A44.0 OMIM:312080 UMLS:C5679776 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280210 Pelizaeus-Merzbacher disease, connatal form Clinical subtype ORPHA:280210 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:312080 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679776 E (Exact mapping: the two concepts are equivalent) Classic PMD The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. Orphanet ICD-10:E75.2 ICD-11:8A44.0 OMIM:312080 UMLS:C0751916 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280219 Pelizaeus-Merzbacher disease, classic form Clinical subtype ORPHA:280219 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:312080 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751916 E (Exact mapping: the two concepts are equivalent) Transitional PMD The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term). Orphanet ICD-10:E75.2 ICD-11:8A44.0 OMIM:312080 UMLS:C0751917 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280224 Pelizaeus-Merzbacher disease, transitional form Clinical subtype ORPHA:280224 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:312080 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751917 E (Exact mapping: the two concepts are equivalent) Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the <i>PLP1</i> gene (Xq22). Orphanet ICD-10:E75.2 ICD-11:8A44.0 OMIM:312080 UMLS:C5438815 X-linked recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280229 Pelizaeus-Merzbacher disease in female carriers Clinical subtype ORPHA:280229 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:312080 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5438815 E (Exact mapping: the two concepts are equivalent) PLP1 null syndrome Pelizaeus-Merzbacher disease, null syndrome The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. Orphanet ICD-10:E75.2 ICD-11:8A44.0 OMIM:312080 UMLS:C5439441 X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280234 Null syndrome Clinical subtype ORPHA:280234 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:312080 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5439441 E (Exact mapping: the two concepts are equivalent) PMLD Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term). Orphanet ICD-10:E75.2 ICD-11:LD90.2 OMIM:260600 OMIM:300523 OMIM:608804 OMIM:612233 UMLS:C4274084 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280270 Pelizaeus-Merzbacher-like disease ORPHA:280270 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:260600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300523 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608804 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612233 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274084 E (Exact mapping: the two concepts are equivalent) PMLD1 ICD-10:E75.2 ICD-11:LD90.2 MeSH:C563855 OMIM:608804 UMLS:C1837355 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation Clinical subtype ORPHA:280282 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563855 E (Exact mapping: the two concepts are equivalent) OMIM:608804 E (Exact mapping: the two concepts are equivalent) UMLS:C1837355 E (Exact mapping: the two concepts are equivalent) Mitochondrial HSP60 chaperonopathy ICD-10:E75.2 ICD-11:LD90.2 MeSH:C567390 OMIM:612233 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Clinical subtype ORPHA:280288 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567390 E (Exact mapping: the two concepts are equivalent) OMIM:612233 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:LD90.2 OMIM:260600 UMLS:C5396702 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Clinical subtype ORPHA:280293 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:260600 E (Exact mapping: the two concepts are equivalent) UMLS:C5396702 E (Exact mapping: the two concepts are equivalent) AIP type 1 IgG4-related pancreatitis Lymphoplasmacytic sclerosing pancreatitis Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. Orphanet ICD-10:K86.1 ICD-11:DC33 UMLS:C4302243 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280302 Autoimmune pancreatitis type 1 Clinical subtype ORPHA:280302 ICD-10:K86.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DC33 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302243 E (Exact mapping: the two concepts are equivalent) AIP type 2 Duct-centric pancreatitis Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice. Orphanet ICD-10:K86.1 UMLS:C5197785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280315 Autoimmune pancreatitis type 2 ORPHA:280315 ICD-10:K86.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5197785 E (Exact mapping: the two concepts are equivalent) 12p13.33 microdeletion syndrome Del(12)(p13.33) Distal monosomy 12p A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Orphanet ICD-10:Q93.5 UMLS:C4749581 Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280325 Distal deletion 12p syndrome ORPHA:280325 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749581 E (Exact mapping: the two concepts are equivalent) Alpha-dystroglycan-related LGMD R16 Autosomal recessive limb-girdle muscular dystrophy type 2P LGMD type 2P LGMD2P Limb-girdle muscular dystrophy type 2P A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. Orphanet ICD-10:G71.0 OMIM:613818 UMLS:C4511963 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 ORPHA:280333 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613818 E (Exact mapping: the two concepts are equivalent) UMLS:C4511963 E (Exact mapping: the two concepts are equivalent) UMLS:C5680785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280342 Rare systemic or rheumatological disease of childhood Category ORPHA:280342 UMLS:C5680785 E (Exact mapping: the two concepts are equivalent) 3p21.31 156DAG A3a AGRNR DAG alpha-dystroglycan beta-dystroglycan dystrophin-associated glycoprotein-1 ClinVar:DAG1 Ensembl:ENSG00000173402 Genatlas:DAG1 HGNC:2666 OMIM:128239 Reactome:Q14118 SwissProt:Q14118 DAG1 dystroglycan 1 FPLD4 PLIN1-related FPLD A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Orphanet ICD-10:E88.1 OMIM:613877 UMLS:C5191005 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280356 PLIN1-related familial partial lipodystrophy ORPHA:280356 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613877 E (Exact mapping: the two concepts are equivalent) UMLS:C5191005 E (Exact mapping: the two concepts are equivalent) 15q26.1 ClinVar:PLIN1 Ensembl:ENSG00000166819 Genatlas:PLIN1 HGNC:9076 OMIM:170290 Reactome:O60240 SwissProt:O60240 PLIN1 perilipin 1 A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. Orphanet ICD-10:E88.1 UMLS:C5680783 Semi-dominant Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280365 Autosomal semi-dominant severe lipodystrophic laminopathy ORPHA:280365 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680783 E (Exact mapping: the two concepts are equivalent) UMLS:C5680782 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280369 Rare pediatric vasculitis Category ORPHA:280369 UMLS:C5680782 E (Exact mapping: the two concepts are equivalent) UMLS:C5680784 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280373 Rare pediatric systemic disease Category ORPHA:280373 UMLS:C5680784 E (Exact mapping: the two concepts are equivalent) A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased. Orphanet ICD-10:E80.2 UMLS:C5191004 Autosomal recessive Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280379 Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191004 E (Exact mapping: the two concepts are equivalent) IDMDC Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. Orphanet ICD-10:Q68.8 UMLS:C4749580 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome ORPHA:280384 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749580 E (Exact mapping: the two concepts are equivalent) 8p11.23 Erlin-2 NET32 ClinVar:ERLIN2 Ensembl:ENSG00000147475 Genatlas:ERLIN2 HGNC:1356 OMIM:611605 Reactome:O94905 SwissProt:O94905 ERLIN2 ER lipid raft associated 2 Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in <i>PRNP</i>. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. Orphanet ICD-10:A81.8 ICD-11:8E02.3 UMLS:C4303482 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280397 Familial Alzheimer-like prion disease ORPHA:280397 ICD-10:A81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E02.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303482 E (Exact mapping: the two concepts are equivalent) Pallister-W syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described. Orphanet ICD-10:Q87.8 MeSH:C538106 MedDRA:10084236 OMIM:311450 UMLS:C0796110 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2804 W syndrome ORPHA:2804 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538106 E (Exact mapping: the two concepts are equivalent) MedDRA:10084236 E (Exact mapping: the two concepts are equivalent) OMIM:311450 E (Exact mapping: the two concepts are equivalent) UMLS:C0796110 E (Exact mapping: the two concepts are equivalent) Familial prion disease Genetic human prion disease UMLS:C5679775 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280400 Inherited human prion disease Category ORPHA:280400 UMLS:C5679775 E (Exact mapping: the two concepts are equivalent) Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. Orphanet ICD-10:Q79.2 UMLS:C4749579 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280403 Familial omphalocele syndrome with facial dysmorphism ORPHA:280403 ICD-10:Q79.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749579 E (Exact mapping: the two concepts are equivalent) Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described. Orphanet ICD-10:N04.8 OMIM:614650 UMLS:C5191003 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406 ICD-10:N04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614650 E (Exact mapping: the two concepts are equivalent) UMLS:C5191003 E (Exact mapping: the two concepts are equivalent) 14q24.3 CGI-10 ClinVar:COQ6 Ensembl:ENSG00000119723 Genatlas:COQ6 HGNC:20233 OMIM:614647 Reactome:Q9Y2Z9 SwissProt:Q9Y2Z9 COQ6 coenzyme Q6, monooxygenase Congenital pancreatic agenesis Partial agenesis of the pancreas Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. Orphanet ICD-10:Q45.0 ICD-11:LB21.4 OMIM:167755 OMIM:260370 OMIM:615935 UMLS:C4305001 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2805 Partial pancreatic agenesis ORPHA:2805 ICD-10:Q45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB21.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:167755 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:260370 E (Exact mapping: the two concepts are equivalent) OMIM:615935 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4305001 E (Exact mapping: the two concepts are equivalent) Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. Orphanet ICD-10:G71.2 ICD-11:8C76 OMIM:613869 UMLS:C5190691 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280553 Fatal infantile hypertonic myofibrillar myopathy ORPHA:280553 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613869 E (Exact mapping: the two concepts are equivalent) UMLS:C5190691 E (Exact mapping: the two concepts are equivalent) WABS A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:613398 UMLS:C3150658 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280558 Warsaw breakage syndrome ORPHA:280558 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613398 E (Exact mapping: the two concepts are equivalent) UMLS:C3150658 E (Exact mapping: the two concepts are equivalent) 12p11.21 CHL1 CHL1-like helicase homolog (S. cerevisiae) CHLR1 ChlR1 KRG-2 KRG2 Keratinocyte growth factor-regulated gene 2 WABS Warsaw Breakage Syndrome ClinVar:DDX11 Ensembl:ENSG00000013573 Genatlas:DDX11 HGNC:2736 OMIM:601150 Reactome:Q96FC9 SwissProt:Q96FC9 DDX11 DEAD/H-box helicase 11 OBSOLETE: Crescentic glomerulonephritis OBSOLETE: RPGN This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Glomerular disease OBSOLETE: Rapidly progressive glomerulonephritis ORPHA:280569 NGPS Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. Orphanet ICD-10:E34.8 OMIM:614008 UMLS:C3151446 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280576 Nestor-Guillermo progeria syndrome ORPHA:280576 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614008 E (Exact mapping: the two concepts are equivalent) UMLS:C3151446 E (Exact mapping: the two concepts are equivalent) 11q13.1 BAF ClinVar:BANF1 Ensembl:ENSG00000175334 Genatlas:BANF1 HGNC:17397 OMIM:603811 Reactome:O75531 SwissProt:O75531 BANF1 BAF nuclear assembly factor 1 gPAPP deficiency A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Orphanet ICD-10:M85.0 OMIM:614078 UMLS:C3279757 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280586 Chondrodysplasia with joint dislocations, gPAPP type ORPHA:280586 ICD-10:M85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614078 E (Exact mapping: the two concepts are equivalent) UMLS:C3279757 E (Exact mapping: the two concepts are equivalent) 8q12.1 FLJ20421 Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase IMPA3 gPAPP golgi-resident nucleotide phosphatase ClinVar:IMPAD1 Ensembl:ENSG00000104331 Genatlas:IMPAD1 HGNC:26019 OMIM:614010 Reactome:Q9NX62 SwissProt:Q9NX62 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated. Orphanet ICD-10:G60.0 ICD-11:8C20.0 OMIM:608895 UMLS:C5190690 Autosomal dominant All ages Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280598 Hereditary sensorimotor neuropathy with hyperelastic skin ORPHA:280598 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608895 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190690 E (Exact mapping: the two concepts are equivalent) Dawson encephalitis SSPE Subacute inclusion body encephalitis Subacute sclerosing panencephalitis Van Bogaert disease Van Bogaert encephalitis A rare infectious disease characterized by slowly progressive brain disorder caused by a mutant measles virus, typically affecting children and young adults. The condition leads to cognitive decline, myoclonus, vision loss, and eventually a vegetative state. Orphanet ICD-10:A81.1 ICD-11:8A45.01 MeSH:D013344 MedDRA:10042297 OMIM:260470 UMLS:C0038522 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 India AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2806 Subacute sclerosing leukoencephalitis ORPHA:2806 ICD-10:A81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A45.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013344 E (Exact mapping: the two concepts are equivalent) MedDRA:10042297 E (Exact mapping: the two concepts are equivalent) OMIM:260470 E (Exact mapping: the two concepts are equivalent) UMLS:C0038522 E (Exact mapping: the two concepts are equivalent) Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Orphanet ICD-10:D58.2 OMIM:613977 UMLS:C5190689 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280615 Hemoglobinopathy Toms River ORPHA:280615 ICD-10:D58.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613977 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190689 E (Exact mapping: the two concepts are equivalent) EPM6 GOSR2-related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy PME type 6 Progressive myoclonus epilepsy type 6 A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course. Orphanet ICD-10:G40.3 ICD-11:8A61.41 OMIM:614018 UMLS:C5190805 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280620 Progressive myoclonic epilepsy type 6 ORPHA:280620 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614018 E (Exact mapping: the two concepts are equivalent) UMLS:C5190805 E (Exact mapping: the two concepts are equivalent) 17q21.32 Bos1 GS27 ClinVar:GOSR2 Ensembl:ENSG00000108433 Genatlas:GOSR2 HGNC:4431 OMIM:604027 Reactome:O14653 SwissProt:O14653 GOSR2 golgi SNAP receptor complex member 2 FPHH Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. Orphanet ICD-10:L81.8 ICD-11:EC23.Y OMIM:145250 UMLS:C4706423 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280628 Familial progressive hyper- and hypopigmentation ORPHA:280628 ICD-10:L81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:145250 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4706423 E (Exact mapping: the two concepts are equivalent) Congenital disorder of glycosylation due to PIGN deficiency PIGN-CDG A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia. Orphanet ICD-10:Q87.8 OMIM:614080 UMLS:C5191419 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280633 Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614080 E (Exact mapping: the two concepts are equivalent) UMLS:C5191419 E (Exact mapping: the two concepts are equivalent) 18q21.33 GPI ethanolamine phosphate transferase 1 MCD4 MDC4 PIG-N ClinVar:PIGN Ensembl:ENSG00000197563 Genatlas:PIGN HGNC:8967 OMIM:606097 Reactome:O95427 SwissProt:O95427 PIGN phosphatidylinositol glycan anchor biosynthesis class N Occipital MCD Occipital malformations of cortical development A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. Orphanet ICD-10:Q04.3 OMIM:614115 UMLS:C5190688 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280640 Occipital pachygyria and polymicrogyria ORPHA:280640 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614115 E (Exact mapping: the two concepts are equivalent) UMLS:C5190688 E (Exact mapping: the two concepts are equivalent) 9q34.12 DKFZp434E202 ClinVar:LAMC3 Ensembl:ENSG00000050555 Genatlas:LAMC3 HGNC:6494 OMIM:604349 Reactome:Q9Y6N6 SwissProt:Q9Y6N6 LAMC3 laminin subunit gamma 3 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acrodysostosis OBSOLETE: Acrodysostosis with multiple hormone resistance ORPHA:280651 A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. Orphanet ICD-10:Q84.6 OMIM:161050 UMLS:C5190687 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280654 Autosomal recessive nail dysplasia ORPHA:280654 ICD-10:Q84.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:161050 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190687 E (Exact mapping: the two concepts are equivalent) 8q22.3 Hfz6 ClinVar:FZD6 Ensembl:ENSG00000164930 Genatlas:FZD6 HGNC:4044 IUPHAR:234 OMIM:603409 Reactome:O60353 SwissProt:O60353 FZD6 frizzled class receptor 6 HPS9 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hermansky-Pudlak syndrome due to BLOC-1 deficiency OMIM:614171 Hermansky-Pudlak syndrome type 9 ORPHA:280663 OMIM:614171 E (Exact mapping: the two concepts are equivalent) 15q21.1 BLOC-1 subunit pallidin HPS9 ClinVar:PLDN Ensembl:ENSG00000104164 Genatlas:PLDN HGNC:8549 OMIM:604310 Reactome:Q9UL45 SwissProt:Q9UL45 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 Congenital megaconial myopathy Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect Congenital muscular dystrophy with mitochondrial structural abnormalities A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers. Orphanet ICD-10:G71.2 ICD-11:8C70.6 MeSH:C566527 OMIM:602541 UMLS:C1865233 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280671 Megaconial congenital muscular dystrophy ORPHA:280671 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566527 E (Exact mapping: the two concepts are equivalent) OMIM:602541 E (Exact mapping: the two concepts are equivalent) UMLS:C1865233 E (Exact mapping: the two concepts are equivalent) 22q13.33 CHETK ClinVar:CHKB Ensembl:ENSG00000100288 Genatlas:CHKB HGNC:1938 OMIM:612395 Reactome:Q9Y259 SwissProt:Q9Y259 CHKB choline kinase beta Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Orphanet ICD-10:Q87.8 ICD-11:LD2F.Y OMIM:300845 UMLS:C4518329 X-linked recessive All ages Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300845 E (Exact mapping: the two concepts are equivalent) UMLS:C4518329 E (Exact mapping: the two concepts are equivalent) CPP Choroid plexus papilloma A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. Orphanet ICD-10:D33.0 ICD-11:2A00.22 MeSH:D020288 MedDRA:10008777 OMIM:260500 UMLS:C0205770 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2807 Papilloma of choroid plexus ORPHA:2807 ICD-10:D33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020288 E (Exact mapping: the two concepts are equivalent) MedDRA:10008777 E (Exact mapping: the two concepts are equivalent) OMIM:260500 E (Exact mapping: the two concepts are equivalent) UMLS:C0205770 E (Exact mapping: the two concepts are equivalent) AP4 deficiency syndrome A rare complex hereditary spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. Orphanet ICD-10:G11.4 OMIM:612936 OMIM:613744 OMIM:614066 OMIM:614067 UMLS:C4755264 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280763 Severe intellectual disability and progressive spastic paraplegia ORPHA:280763 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612936 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613744 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614066 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614067 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4755264 E (Exact mapping: the two concepts are equivalent) GET A rare skin disease characterized by widespread cutaneous telangiectases usually &#64257;rst appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or con&#64258;uent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded. Orphanet ICD-10:L98.8 ICD-11:EF20.4 MeSH:C562998 UMLS:C0473555 Not applicable Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280774 Generalized essential telangiectasia ORPHA:280774 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF20.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562998 E (Exact mapping: the two concepts are equivalent) UMLS:C0473555 E (Exact mapping: the two concepts are equivalent) CCV Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. Orphanet ICD-10:L98.8 ICD-11:EF20.Y UMLS:C4305323 Not applicable Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280779 Cutaneous collagenous vasculopathy ORPHA:280779 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305323 E (Exact mapping: the two concepts are equivalent) Bullous DCM Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin. Orphanet ICD-10:Q82.2 ICD-11:2A21.1Y UMLS:C5546764 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280785 Bullous diffuse cutaneous mastocytosis Clinical subtype ORPHA:280785 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5546764 E (Exact mapping: the two concepts are equivalent) Infiltrative small vesicular DCM Infiltrative small vesicular diffuse cutaneous mastocytosis Pseudoxanthomatous DCM Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering. Orphanet ICD-10:Q82.2 ICD-11:2A21.1Y UMLS:C5679949 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280794 Pseudoxanthomatous diffuse cutaneous mastocytosis Clinical subtype ORPHA:280794 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679949 E (Exact mapping: the two concepts are equivalent) Familial vocal cord dysfunction Gerhardt syndrome ICD-10:J38.0 ICD-11:LA71.Y MeSH:C536354 OMIM:150260 UMLS:C0396059 Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2808 Laryngeal abductor paralysis ORPHA:2808 ICD-10:J38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536354 E (Exact mapping: the two concepts are equivalent) OMIM:150260 E (Exact mapping: the two concepts are equivalent) UMLS:C0396059 E (Exact mapping: the two concepts are equivalent) Congenital intrapulmonary sequestration Intralobar congenital bronchopulmonary sequestration ICD-10:Q33.2 ICD-11:LA75.6 UMLS:C5679950 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280802 Intralobar congenital pulmonary sequestration Clinical subtype ORPHA:280802 ICD-10:Q33.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679950 E (Exact mapping: the two concepts are equivalent) Congenital extrapulmonary sequestration Extralobar congenital bronchopulmonary sequestration ICD-10:Q33.2 ICD-11:LA75.6 UMLS:C5679951 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280811 Extralobar congenital pulmonary sequestration Clinical subtype ORPHA:280811 ICD-10:Q33.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679951 E (Exact mapping: the two concepts are equivalent) ICD-10:Q33.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280821 Communicating congenital bronchopulmonary-foregut malformation Clinical subtype ORPHA:280821 ICD-10:Q33.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). CPAM type 0 Congenital cystic adenomatoid malformation of the lung type 0 Congenital cystic adenomatous malformation of the lung type 0 A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life. Orphanet ICD-10:Q33.0 ICD-11:LA75.4 UMLS:C5437764 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280827 Congenital pulmonary airway malformation type 0 Clinical subtype ORPHA:280827 ICD-10:Q33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437764 E (Exact mapping: the two concepts are equivalent) CCAM type 1 CPAM type 1 Congenital cystic adenomatoid malformation of the lung type 1 Congenital cystic adenomatous malformation of the lung type 1 Congenital cystic disease of the lung type 1 A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma. Orphanet ICD-10:Q33.0 ICD-11:LA75.4 UMLS:C5437763 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280832 Congenital pulmonary airway malformation type 1 Clinical subtype ORPHA:280832 ICD-10:Q33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437763 E (Exact mapping: the two concepts are equivalent) CCAM type 2 CPAM type 2 Congenital cystic adenomatoid malformation of the lung type 2 Congenital cystic adenomatous malformation of the lung type 2 Congenital cystic disease of the lung type 2 A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities. Orphanet ICD-10:Q33.0 ICD-11:LA75.4 UMLS:C5437761 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280840 Congenital pulmonary airway malformation type 2 Clinical subtype ORPHA:280840 ICD-10:Q33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437761 E (Exact mapping: the two concepts are equivalent) CCAM type 3 CPAM type 3 Congenital cystic adenomatoid malformation of the lung type 3 Congenital cystic adenomatous malformation of the lung type 3 Congenital cystic disease of the lung type 3 A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue consisting of numerous microcysts of less than 0.5 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. The condition may be associated with polyhydramnios, fetal hydrops, and stillbirth, or present with severe respiratory distress in the neonatal period. Orphanet ICD-10:Q33.0 ICD-11:LA75.4 UMLS:C5437762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280847 Congenital pulmonary airway malformation type 3 Clinical subtype ORPHA:280847 ICD-10:Q33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437762 E (Exact mapping: the two concepts are equivalent) CPAM type 4 Congenital cystic adenomatoid malformation of the lung type 4 Congenital cystic adenomatous malformation of the lung type 4 A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1. Orphanet ICD-10:Q33.0 ICD-11:LA75.4 UMLS:C5437760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280854 Congenital pulmonary airway malformation type 4 Clinical subtype ORPHA:280854 ICD-10:Q33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437760 E (Exact mapping: the two concepts are equivalent) Iridocyclitis ICD-11:9A96 MeSH:D014606 MedDRA:10002709 UMLS:C0042165 Not applicable All ages Denmark AND has_point_prevalence_average_value : 185.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280886 Anterior uveitis Category ORPHA:280886 ICD-11:9A96 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014606 E (Exact mapping: the two concepts are equivalent) MedDRA:10002709 E (Exact mapping: the two concepts are equivalent) UMLS:C0042165 E (Exact mapping: the two concepts are equivalent) Choroiditis MeSH:D015866 MedDRA:10036370 UMLS:C0042167 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280892 Posterior uveitis Category ORPHA:280892 MeSH:D015866 E (Exact mapping: the two concepts are equivalent) MedDRA:10036370 E (Exact mapping: the two concepts are equivalent) UMLS:C0042167 E (Exact mapping: the two concepts are equivalent) Total uveitis ICD-11:9C20 MeSH:D015864 MedDRA:10033687 UMLS:C0030343 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280898 Panuveitis Category ORPHA:280898 ICD-11:9C20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015864 E (Exact mapping: the two concepts are equivalent) MedDRA:10033687 E (Exact mapping: the two concepts are equivalent) UMLS:C0030343 E (Exact mapping: the two concepts are equivalent) Familial recurrent Bell palsy A rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors. Orphanet ICD-10:G51.0 ICD-11:8B88.0 MeSH:C565028 OMIM:134200 UMLS:C1851399 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2809 Familial recurrent peripheral facial palsy ORPHA:2809 ICD-10:G51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565028 E (Exact mapping: the two concepts are equivalent) OMIM:134200 E (Exact mapping: the two concepts are equivalent) UMLS:C1851399 E (Exact mapping: the two concepts are equivalent) Isolated IAU https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280914 Isolated idiopathic anterior uveitis ORPHA:280914 Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported. Orphanet ICD-10:H30.9 UMLS:C4751435 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280917 Idiopathic posterior uveitis ORPHA:280917 ICD-10:H30.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751435 E (Exact mapping: the two concepts are equivalent) Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss. Orphanet ICD-10:H44.1 UMLS:C4707884 Not applicable Adolescent Adult Childhood Elderly Europe AND has_annual_incidence_average_value : 0.5051 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0194 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 3.6 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280921 Idiopathic panuveitis ORPHA:280921 ICD-10:H44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707884 E (Exact mapping: the two concepts are equivalent) UMLS:C5681018 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280926 Systemic diseases with anterior uveitis Category ORPHA:280926 UMLS:C5681018 E (Exact mapping: the two concepts are equivalent) UMLS:C5681022 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280930 Systemic diseases with posterior uveitis Category ORPHA:280930 UMLS:C5681022 E (Exact mapping: the two concepts are equivalent) UMLS:C5681021 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=280933 Systemic diseases with panuveitis Category ORPHA:280933 UMLS:C5681021 E (Exact mapping: the two concepts are equivalent) Cri du chat syndrome Deletion 5p A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism. Orphanet ICD-10:Q93.4 ICD-11:LD44.51 MeSH:D003410 MedDRA:10011385 OMIM:123450 UMLS:C0010314 Not applicable Unknown Antenatal Denmark AND has_birth_prevalence_average_value : 2.22 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281 Monosomy 5p syndrome ORPHA:281 ICD-10:Q93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD44.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D003410 E (Exact mapping: the two concepts are equivalent) MedDRA:10011385 E (Exact mapping: the two concepts are equivalent) OMIM:123450 E (Exact mapping: the two concepts are equivalent) UMLS:C0010314 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Bell palsy This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G51.0 NON RARE IN EUROPE: Idiopathic facial palsy ORPHA:2810 ICD-10:G51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC20.0 UMLS:C5681020 France AND has_point_prevalence_average_value : 1.13 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281082 Inherited non-syndromic ichthyosis Category ORPHA:281082 ICD-11:EC20.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681020 E (Exact mapping: the two concepts are equivalent) ICD-11:LD27.2 UMLS:C5681019 France AND has_point_prevalence_average_value : 0.19 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281085 Inherited ichthyosis syndromic form Category ORPHA:281085 ICD-11:LD27.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681019 E (Exact mapping: the two concepts are equivalent) Recessive X-linked ichthyosis with extracutaneous manifestations Syndromic RXLI A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome. Orphanet ICD-10:Q80.1 OMIM:308100 UMLS:C4274085 X-linked recessive Childhood Europe AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281090 Syndromic recessive X-linked ichthyosis ORPHA:281090 ICD-10:Q80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:308100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4274085 E (Exact mapping: the two concepts are equivalent) ARCI ICD-11:EC20.02 UMLS:C1274215 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281097 Autosomal recessive congenital ichthyosis Clinical group ORPHA:281097 ICD-11:EC20.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1274215 E (Exact mapping: the two concepts are equivalent) KPI A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in <i>KRT1</i> and <i>KRT10</i> cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a <i>KRT1</i> mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. <i>KRT2</i> mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized. Orphanet ICD-11:EC20.03 UMLS:C4511307 France AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281103 Keratinopathic ichthyosis Clinical group ORPHA:281103 ICD-11:EC20.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4511307 E (Exact mapping: the two concepts are equivalent) SHCB SICI Self-healing collodion baby Self-improving congenital ichthyosis Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Orphanet ICD-10:Q80.2 ICD-11:EC20.02 MeSH:C565473 OMIM:242100 OMIM:242300 OMIM:606545 UMLS:C1855789 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281122 Self-improving collodion baby ORPHA:281122 ICD-10:Q80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565473 E (Exact mapping: the two concepts are equivalent) OMIM:242100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:242300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:606545 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1855789 E (Exact mapping: the two concepts are equivalent) Acral SHCB A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. Orphanet ICD-10:Q80.2 ICD-11:EC20.02 OMIM:242300 UMLS:C4305324 Autosomal recessive Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281127 Acral self-healing collodion baby ORPHA:281127 ICD-10:Q80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:242300 E (Exact mapping: the two concepts are equivalent) UMLS:C4305324 E (Exact mapping: the two concepts are equivalent) AEI A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. Orphanet ICD-10:Q80.3 ICD-11:EC20.03 OMIM:607602 OMIM:620148 UMLS:C1843463 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281139 Annular epidermolytic ichthyosis ORPHA:281139 ICD-10:Q80.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607602 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620148 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1843463 E (Exact mapping: the two concepts are equivalent) CRIE IWC Ichthyosis variegata Ichthyosis with confetti ICD-10:Q80.8 ICD-11:EC20.0Y OMIM:609165 UMLS:C3665704 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281190 Congenital reticular ichthyosiform erythroderma ORPHA:281190 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609165 E (Exact mapping: the two concepts are equivalent) UMLS:C3665704 E (Exact mapping: the two concepts are equivalent) Hard skin syndrome, Parana type A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:L91.8 MeSH:C564905 OMIM:260530 UMLS:C1850079 Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2812 Parana hard skin syndrome ORPHA:2812 ICD-10:L91.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564905 E (Exact mapping: the two concepts are equivalent) OMIM:260530 E (Exact mapping: the two concepts are equivalent) UMLS:C1850079 E (Exact mapping: the two concepts are equivalent) KLICK syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. Orphanet ICD-10:Q82.8 ICD-11:EC20.0Y MeSH:C566600 OMIM:601952 UMLS:C1866029 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome ORPHA:281201 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566600 E (Exact mapping: the two concepts are equivalent) OMIM:601952 E (Exact mapping: the two concepts are equivalent) UMLS:C1866029 E (Exact mapping: the two concepts are equivalent) ICD-10:Q80.1 ICD-11:LD27.2 MedDRA:10048063 UMLS:C0079588 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281210 X-linked ichthyosis syndrome Clinical group ORPHA:281210 ICD-10:Q80.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10048063 E (Exact mapping: the two concepts are equivalent) UMLS:C0079588 E (Exact mapping: the two concepts are equivalent) UMLS:C5681023 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281217 Autosomal ichthyosis syndrome Category ORPHA:281217 UMLS:C5681023 E (Exact mapping: the two concepts are equivalent) UMLS:C5681027 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281222 Autosomal ichthyosis syndrome with prominent hair abnormalities Category ORPHA:281222 UMLS:C5681027 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Trichothiodystrophy OBSOLETE: Congenital ichthyosis with trichothiodystrophy ORPHA:281234 UMLS:C5681025 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281238 Autosomal ichthyosis syndrome with prominent neurologic signs Category ORPHA:281238 UMLS:C5681025 E (Exact mapping: the two concepts are equivalent) UMLS:C5681026 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281241 Autosomal ichthyosis syndrome with fatal disease course Category ORPHA:281241 UMLS:C5681026 E (Exact mapping: the two concepts are equivalent) UMLS:C5681024 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281244 Autosomal ichthyosis syndrome with other associated signs Category ORPHA:281244 UMLS:C5681024 E (Exact mapping: the two concepts are equivalent) Xp11.21 CHAP1/DSK2 Chap1 Dsk2 LIC-2 N4BP4 NEDD4 binding protein 4 PLIC-2 PLIC2 RIHFB2157 ClinVar:UBQLN2 Ensembl:ENSG00000188021 Genatlas:UBQLN2 HGNC:12509 OMIM:300264 Reactome:Q9UHD9 SwissProt:Q9UHD9 UBQLN2 ubiquilin 2 13q12.3 HSPC014 UMP1 proteassemblin ClinVar:POMP Ensembl:ENSG00000132963 Genatlas:POMP HGNC:20330 OMIM:613386 SwissProt:Q9Y244 POMP proteasome maturation protein 2q14.1 FIL1 FIL1(DELTA) FIL1D IL-1 related protein 3 IL-1F5 IL1HY1 IL1L1 IL1RP3 IL36RA MGC29840 family of interleukin 1-delta interleukin-1 HY1 interleukin-1 receptor antagonist homolog 1 ClinVar:IL36RN Ensembl:ENSG00000136695 Genatlas:IL36RN HGNC:15561 OMIM:605507 Reactome:Q9UBH0 SwissProt:Q9UBH0 IL36RN interleukin 36 receptor antagonist 14q32.33 AKT PKB PRKBA RAC RAC-alpha protein kinase B ClinVar:AKT1 Ensembl:ENSG00000142208 Genatlas:AKT1 HGNC:391 IUPHAR:1479 OMIM:164730 Reactome:P31749 SwissProt:P31749 AKT1 AKT serine/threonine kinase 1 20q11.21 KIAA0978 ClinVar:ASXL1 Ensembl:ENSG00000171456 Genatlas:ASXL1 HGNC:18318 OMIM:612990 Reactome:Q8IXJ9 SwissProt:Q8IXJ9 ASXL1 ASXL transcriptional regulator 1 2q14.3 ClinVar:HS6ST1 Ensembl:ENSG00000136720 Genatlas:HS6ST1 HGNC:5201 OMIM:604846 Reactome:O60243 SwissProt:O60243 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 Spastic paraparesis-hearing loss syndrome Wells-Jankovic syndrome A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:G11.4 ICD-11:LD2H.Y MeSH:C536692 OMIM:312910 UMLS:C2931291 Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2815 Spastic paraparesis-deafness syndrome ORPHA:2815 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536692 E (Exact mapping: the two concepts are equivalent) OMIM:312910 E (Exact mapping: the two concepts are equivalent) UMLS:C2931291 E (Exact mapping: the two concepts are equivalent) SPEMR This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic glucose transporter type 1 deficiency syndrome OMIM:182610 Spastic paraplegia-epilepsy-intellectual disability syndrome ORPHA:2816 OMIM:182610 E (Exact mapping: the two concepts are equivalent) 16p13.11 FLJ20101 NDE NUDE nudE ClinVar:NDE1 Ensembl:ENSG00000072864 Genatlas:NDE1 HGNC:17619 OMIM:609449 Reactome:Q9NXR1 SwissProt:Q9NXR1 NDE1 nudE neurodevelopment protein 1 7p13 BVRA BVRalpha biliverdin reductase IXalpha ClinVar:BLVRA Ensembl:ENSG00000106605 Genatlas:BLVRA HGNC:1062 OMIM:109750 Reactome:P53004 SwissProt:P53004 BLVRA biliverdin reductase A Xq28 DXS707 TE2 arrest defective protein 1 ClinVar:ARD1A Ensembl:ENSG00000102030 Genatlas:ARD1A HGNC:18704 OMIM:300013 Reactome:P41227 SwissProt:P41227 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Orphanet ICD-10:G11.4 OMIM:270850 UMLS:C4518786 Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2818 Spastic paraplegia-glaucoma-intellectual disability syndrome ORPHA:2818 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:270850 E (Exact mapping: the two concepts are equivalent) UMLS:C4518786 E (Exact mapping: the two concepts are equivalent) 11p15.4 HBK ClinVar:HBD Ensembl:ENSG00000223609 Genatlas:HBD HGNC:4829 OMIM:142000 Reactome:P02042 SwissProt:P02042 HBD hemoglobin subunit delta Xq26.1 ClinVar:XPNPEP2 Ensembl:ENSG00000122121 Genatlas:XPNPEP2 HGNC:12823 IUPHAR:1579 OMIM:300145 Reactome:O43895 SwissProt:O43895 XPNPEP2 X-prolyl aminopeptidase 2 10q22.1 ClinVar:NODAL Ensembl:ENSG00000156574 Genatlas:NODAL HGNC:7865 OMIM:601265 Reactome:Q96S42 SwissProt:Q96S42 NODAL nodal growth differentiation factor Bahemuka-Brown syndrome A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:G11.4 MeSH:C537797 UMLS:C2931617 Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2819 Spastic paraplegia-facial-cutaneous lesions syndrome ORPHA:2819 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537797 E (Exact mapping: the two concepts are equivalent) UMLS:C2931617 E (Exact mapping: the two concepts are equivalent) 6q27 ClinVar:DLL1 Ensembl:ENSG00000198719 Genatlas:DLL1 HGNC:2908 OMIM:606582 Reactome:O00548 SwissProt:O00548 DLL1 delta like canonical Notch ligand 1 FTD Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms). Orphanet ICD-11:6D83 MeSH:D057180 MedDRA:10068968 OMIM:172700 OMIM:600274 OMIM:600795 OMIM:607485 UMLS:C0338451 Autosomal dominant Adult Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 3.05 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=282 Frontotemporal dementia Clinical group ORPHA:282 ICD-11:6D83 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D057180 E (Exact mapping: the two concepts are equivalent) MedDRA:10068968 E (Exact mapping: the two concepts are equivalent) OMIM:172700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600274 E (Exact mapping: the two concepts are equivalent) OMIM:600795 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607485 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0338451 E (Exact mapping: the two concepts are equivalent) Fitzsimmons-Walson-Mellor syndrome Spastic paraplegia-nephritis-hearing loss syndrome Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:G11.4 ICD-11:LD2H.Y MeSH:C537937 OMIM:182690 UMLS:C2931667 Autosomal dominant No data available Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2820 Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537937 E (Exact mapping: the two concepts are equivalent) OMIM:182690 E (Exact mapping: the two concepts are equivalent) UMLS:C2931667 E (Exact mapping: the two concepts are equivalent) Antinolo-Nieto-Borrego syndrome A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. Orphanet ICD-10:G11.4 MeSH:C536870 OMIM:182815 UMLS:C4706448 Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2821 Spastic paraplegia-neuropathy-poikiloderma syndrome ORPHA:2821 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536870 E (Exact mapping: the two concepts are equivalent) OMIM:182815 E (Exact mapping: the two concepts are equivalent) UMLS:C4706448 E (Exact mapping: the two concepts are equivalent) Partial monosomy of chromosome 12 UMLS:C5680422 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=282124 Partial deletion of chromosome 12 syndrome Category ORPHA:282124 UMLS:C5680422 E (Exact mapping: the two concepts are equivalent) Inherited CJD A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. Orphanet ICD-10:A81.0 ICD-11:8E02.0 OMIM:123400 UMLS:C0751254 Autosomal dominant Adult Elderly Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=282166 Inherited Creutzfeldt-Jakob disease ORPHA:282166 ICD-10:A81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8E02.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:123400 E (Exact mapping: the two concepts are equivalent) UMLS:C0751254 E (Exact mapping: the two concepts are equivalent) APS Autoimmune polyglandular syndrome A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4. Orphanet ICD-10:E31.0 ICD-11:5B00 MeSH:D016884 UMLS:C0085409 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=282196 Autoimmune polyendocrinopathy Clinical group ORPHA:282196 ICD-10:E31.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5B00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016884 E (Exact mapping: the two concepts are equivalent) UMLS:C0085409 E (Exact mapping: the two concepts are equivalent) Nakamura-Osame syndrome SPG11 Spastic paraplegia-intellectual disability-thin corpus callosum syndrome A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C538335 OMIM:604360 UMLS:C2931821 Autosomal recessive Adolescent Adult Childhood Infancy Portugal AND has_point_prevalence_average_value : 0.26 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2822 Autosomal recessive spastic paraplegia type 11 ORPHA:2822 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538335 E (Exact mapping: the two concepts are equivalent) OMIM:604360 E (Exact mapping: the two concepts are equivalent) UMLS:C2931821 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Fitzsimmons-Guilbert syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal recessive spastic ataxia of Charlevoix-Saguenay OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome ORPHA:2823 Fitzsimmons-McLachlan-Gilbert syndrome A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. Orphanet ICD-10:G82.1 MeSH:C537058 OMIM:309560 UMLS:C2745996 X-linked recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2824 Paraplegia-intellectual disability-hyperkeratosis syndrome ORPHA:2824 ICD-10:G82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537058 E (Exact mapping: the two concepts are equivalent) OMIM:309560 E (Exact mapping: the two concepts are equivalent) UMLS:C2745996 E (Exact mapping: the two concepts are equivalent) Poikiloderma-alopecia-retrognathism-cleft palate syndrome PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.8 MeSH:C537174 OMIM:600331 UMLS:C1838256 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2825 PARC syndrome ORPHA:2825 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537174 E (Exact mapping: the two concepts are equivalent) OMIM:600331 E (Exact mapping: the two concepts are equivalent) UMLS:C1838256 E (Exact mapping: the two concepts are equivalent) Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:G11.4 MeSH:C536874 OMIM:182820 UMLS:C4518543 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2826 Spastic paraplegia-precocious puberty syndrome ORPHA:2826 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536874 E (Exact mapping: the two concepts are equivalent) OMIM:182820 E (Exact mapping: the two concepts are equivalent) UMLS:C4518543 E (Exact mapping: the two concepts are equivalent) 9q34.3 GluN1 NR1 ClinVar:GRIN1 Ensembl:ENSG00000176884 Genatlas:GRIN1 HGNC:4584 IUPHAR:455 OMIM:138249 Reactome:Q05586 SwissProt:Q05586 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 Early-onset Parkinson disease YOPD A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease. Orphanet ICD-10:G20 ICD-11:8A00.00 OMIM:300557 OMIM:600116 OMIM:602404 OMIM:605909 OMIM:606324 OMIM:606852 OMIM:610297 OMIM:613643 OMIM:615528 OMIM:616840 UMLS:C4275179 Autosomal recessive Adult Europe AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2828 Young-onset Parkinson disease ORPHA:2828 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300557 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600116 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602404 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605909 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606324 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606852 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610297 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613643 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615528 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:616840 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4275179 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome MeSH:C536299 OMIM:260555 UMLS:C1850075 Partington-Anderson syndrome ORPHA:2829 MeSH:C536299 E (Exact mapping: the two concepts are equivalent) OMIM:260555 E (Exact mapping: the two concepts are equivalent) UMLS:C1850075 E (Exact mapping: the two concepts are equivalent) Demodicosis Demodicidosis is a rare parasitic cutaneous disease due to <i>Demodex</i> mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings. Orphanet ICD-10:B88.0 ICD-11:1G07.0 MedDRA:10075310 UMLS:C0392666 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=283 Demodicidosis ORPHA:283 ICD-10:B88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1G07.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10075310 E (Exact mapping: the two concepts are equivalent) UMLS:C0392666 E (Exact mapping: the two concepts are equivalent) Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia. Orphanet ICD-10:Q78.8 ICD-11:LD24.A MeSH:C537609 OMIM:601438 UMLS:C1832359 Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2831 Rhizomelic dysplasia, Patterson-Lowry type ORPHA:2831 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537609 E (Exact mapping: the two concepts are equivalent) OMIM:601438 E (Exact mapping: the two concepts are equivalent) UMLS:C1832359 E (Exact mapping: the two concepts are equivalent) Lopes-Gorlin syndrome Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Orphanet ICD-10:Q87.2 MeSH:C537036 OMIM:600269 UMLS:C1838328 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2832 Short tarsus-absence of lower eyelashes syndrome ORPHA:2832 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537036 E (Exact mapping: the two concepts are equivalent) OMIM:600269 E (Exact mapping: the two concepts are equivalent) UMLS:C1838328 E (Exact mapping: the two concepts are equivalent) Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described. Orphanet ICD-10:L98.8 ICD-11:EE6Y MeSH:C566112 MedDRA:10085085 OMIM:184900 OMIM:228020 UMLS:C1861456 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 54.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2833 Stiff skin syndrome ORPHA:2833 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566112 E (Exact mapping: the two concepts are equivalent) MedDRA:10085085 E (Exact mapping: the two concepts are equivalent) OMIM:184900 E (Exact mapping: the two concepts are equivalent) OMIM:228020 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1861456 E (Exact mapping: the two concepts are equivalent) WSS Wrinkled skin syndrome Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). Orphanet ICD-10:Q82.8 ICD-11:LD2B MeSH:C536750 OMIM:278250 UMLS:C0406587 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype ORPHA:2834 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536750 E (Exact mapping: the two concepts are equivalent) OMIM:278250 E (Exact mapping: the two concepts are equivalent) UMLS:C0406587 E (Exact mapping: the two concepts are equivalent) Zori-Stalker-Williams syndrome Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.5 MeSH:C536728 OMIM:600399 UMLS:C2931302 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome ORPHA:2835 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536728 E (Exact mapping: the two concepts are equivalent) OMIM:600399 E (Exact mapping: the two concepts are equivalent) UMLS:C2931302 E (Exact mapping: the two concepts are equivalent) Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile-onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. Orphanet ICD-10:G31.8 ICD-11:LD90.Y MeSH:C536317 MedDRA:10086607 OMIM:260565 UMLS:C1850055 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2836 PEHO syndrome ORPHA:2836 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536317 E (Exact mapping: the two concepts are equivalent) MedDRA:10086607 E (Exact mapping: the two concepts are equivalent) OMIM:260565 E (Exact mapping: the two concepts are equivalent) UMLS:C1850055 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum-Cockayne syndrome complex OMIM:260650 Pellagra-like skin rash-neurological manifestations syndrome ORPHA:2837 OMIM:260650 E (Exact mapping: the two concepts are equivalent) Keratosis palmoplantaris-corneal dystrophy syndrome Oculocutaneous tyrosinemia Richner-Hanhart syndrome Tyrosinemia due to TAT deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type II A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. Orphanet ICD-10:E70.2 ICD-11:5C50.12 MedDRA:10069463 OMIM:276600 UMLS:C0268487 Autosomal recessive Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=28378 Tyrosinemia type 2 ORPHA:28378 ICD-10:E70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10069463 E (Exact mapping: the two concepts are equivalent) OMIM:276600 E (Exact mapping: the two concepts are equivalent) UMLS:C0268487 E (Exact mapping: the two concepts are equivalent) Renal caliceal diverticuli-hearing loss syndrome A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:Q64.8 UMLS:C5190738 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2838 Renal caliceal diverticuli-deafness syndrome ORPHA:2838 ICD-10:Q64.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190738 E (Exact mapping: the two concepts are equivalent) Kosenow syndrome Scapuloiliac dysostosis Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Orphanet ICD-10:Q87.5 MeSH:C566811 OMIM:169550 UMLS:C1868508 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2839 Pelvis-shoulder dysplasia ORPHA:2839 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566811 E (Exact mapping: the two concepts are equivalent) OMIM:169550 E (Exact mapping: the two concepts are equivalent) UMLS:C1868508 E (Exact mapping: the two concepts are equivalent) 1q23.2 KIAA1215 LPP1 LTAP MGC119403 MGC119404 STB1 STBM STBM1 loop-tail-associated protein strabismus vang, van gogh-like 2 ClinVar:VANGL2 Ensembl:ENSG00000162738 Genatlas:VANGL2 HGNC:15511 OMIM:600533 Reactome:Q9ULK5 SwissProt:Q9ULK5 VANGL2 VANGL planar cell polarity protein 2 Echinococcus multilocularis infection A rare parasitic disorder that occurs after ingestion of eggs of <i>Echinococcus multilocularis</i> and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. Orphanet ICD-10:B67.5 ICD-10:B67.6 ICD-10:B67.7 ICD-11:1F73.Y MeSH:C536591 MedDRA:10053042 UMLS:C0152069 Not applicable Adult Elderly Austria AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284 Alveolar echinococcosis ORPHA:284 ICD-10:B67.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536591 E (Exact mapping: the two concepts are equivalent) MedDRA:10053042 E (Exact mapping: the two concepts are equivalent) UMLS:C0152069 E (Exact mapping: the two concepts are equivalent) Ray-Peterson-Scott syndrome Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs. Orphanet ICD-10:Q68.8 MeSH:C535292 OMIM:602484 UMLS:C2930869 Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome ORPHA:2840 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535292 E (Exact mapping: the two concepts are equivalent) OMIM:602484 E (Exact mapping: the two concepts are equivalent) UMLS:C2930869 E (Exact mapping: the two concepts are equivalent) Benign chronic familial pemphigus A rare, genetic, chronic epidermal disorder characterized by diffuse bilateral (or, rarely, localized segmental) erythematous plaques with blistering, erosions, maceration, and frequent secondary infection involving the flexural areas. Orphanet ICD-10:Q82.8 ICD-11:EC20.2 MeSH:D016506 OMIM:169600 UMLS:C0085106 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2841 Hailey-Hailey disease ORPHA:2841 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EC20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016506 E (Exact mapping: the two concepts are equivalent) OMIM:169600 E (Exact mapping: the two concepts are equivalent) UMLS:C0085106 E (Exact mapping: the two concepts are equivalent) 20p13 HLC14-06-P dJ794I6.3 nucleoside-triphosphate diphosphatase ClinVar:ITPA Ensembl:ENSG00000125877 Genatlas:ITPA HGNC:6176 OMIM:147520 Reactome:Q9BY32 SwissProt:Q9BY32 ITPA inosine triphosphatase This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Rheumatoid arthritis ORPHA:284130 Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Orphanet ICD-10:Q74.8 OMIM:245600 UMLS:C4706575 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284139 Larsen-like syndrome, B3GAT3 type ORPHA:284139 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:245600 E (Exact mapping: the two concepts are equivalent) UMLS:C4706575 E (Exact mapping: the two concepts are equivalent) 11q12.3 GlcAT-I galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 glucuronosyltransferase I ClinVar:B3GAT3 Ensembl:ENSG00000149541 Genatlas:B3GAT3 HGNC:923 OMIM:606374 Reactome:O94766 SwissProt:O94766 B3GAT3 beta-1,3-glucuronyltransferase 3 Kreiborg-Pakistani syndrome A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. Orphanet ICD-10:Q87.0 OMIM:614188 UMLS:C3280073 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284149 Craniosynostosis-dental anomalies ORPHA:284149 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614188 E (Exact mapping: the two concepts are equivalent) UMLS:C3280073 E (Exact mapping: the two concepts are equivalent) 9p13.3 ClinVar:IL11RA Ensembl:ENSG00000137070 Genatlas:IL11RA HGNC:5967 IUPHAR:1709 OMIM:600939 Reactome:Q14626 SwissProt:Q14626 IL11RA interleukin 11 receptor subunit alpha Del(8)(q21.11) Deletion 8q21.11 Monosomy 8q21.11 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. Orphanet ICD-10:Q93.5 ICD-11:LD44.80 OMIM:614230 UMLS:C4305343 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284160 8q21.11 microdeletion syndrome ORPHA:284160 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614230 E (Exact mapping: the two concepts are equivalent) UMLS:C4305343 E (Exact mapping: the two concepts are equivalent) 10p12p11 microdeletion syndrome Del(10)(p11.21p12.31) Deletion 10p11.21p12.31 Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion Monosomy 10p11.21p12.31 A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. Orphanet ICD-10:Q87.8 ICD-11:LD44.A1 OMIM:616708 UMLS:C5190804 Not applicable Unknown Infancy Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Clinical subtype ORPHA:284169 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.A1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616708 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190804 E (Exact mapping: the two concepts are equivalent) Dup(X)(p22) Dup(X)(p22.13p22.2) Duplication Xp22 A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. Orphanet ICD-10:Q99.8 ICD-11:LD51 UMLS:C5190686 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284180 Xp22.13p22.2 duplication syndrome ORPHA:284180 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190686 E (Exact mapping: the two concepts are equivalent) A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases). Orphanet ICD-10:Q55.8 ICD-11:LB5Y MeSH:C536650 MedDRA:10067287 UMLS:C1868854 Autosomal recessive Not applicable X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2842 Penoscrotal transposition ORPHA:2842 ICD-10:Q55.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536650 E (Exact mapping: the two concepts are equivalent) MedDRA:10067287 E (Exact mapping: the two concepts are equivalent) UMLS:C1868854 E (Exact mapping: the two concepts are equivalent) Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. Orphanet ICD-10:D75.1 MedDRA:10075076 UMLS:C3854394 Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284227 TEMPI syndrome ORPHA:284227 ICD-10:D75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10075076 E (Exact mapping: the two concepts are equivalent) UMLS:C3854394 E (Exact mapping: the two concepts are equivalent) CMT2O A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Orphanet ICD-10:G60.0 ICD-11:8C20.1 OMIM:614228 UMLS:C3280220 Autosomal dominant Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O ORPHA:284232 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614228 E (Exact mapping: the two concepts are equivalent) UMLS:C3280220 E (Exact mapping: the two concepts are equivalent) 14q32.31 CMT2O DHC1 Dnchc1 HL-3 p22 ClinVar:DYNC1H1 Ensembl:ENSG00000197102 Genatlas:DYNC1H1 HGNC:2961 OMIM:600112 Reactome:Q14204 SwissProt:Q14204 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 FRAM Retinal arterial macroaneurysm and supravalvular pulmonic stenosis A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Orphanet ICD-10:H35.0 ICD-11:9B7Y OMIM:614224 UMLS:C3280205 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284247 Familial retinal arterial macroaneurysm ORPHA:284247 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614224 E (Exact mapping: the two concepts are equivalent) UMLS:C3280205 E (Exact mapping: the two concepts are equivalent) 4q12 FSTL2 IGFBP-7 MAC25 PSF ClinVar:IGFBP7 Ensembl:ENSG00000163453 Genatlas:IGFBP7 HGNC:5476 OMIM:602867 Reactome:Q16270 SwissProt:Q16270 IGFBP7 insulin like growth factor binding protein 7 IgG4-related sclerosing disease Immunoglobulin G4-related sclerosing disease ICD-11:4A43.0 MeSH:D000077733 MedDRA:10071569 UMLS:C3203653 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284264 IgG4-related disease Clinical group ORPHA:284264 ICD-11:4A43.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000077733 E (Exact mapping: the two concepts are equivalent) MedDRA:10071569 E (Exact mapping: the two concepts are equivalent) UMLS:C3203653 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 11 SCAR11 A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. Orphanet ICD-10:G11.1 OMIM:614229 UMLS:C5190803 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614229 E (Exact mapping: the two concepts are equivalent) UMLS:C5190803 E (Exact mapping: the two concepts are equivalent) 1q32.2 FLJ34198 sytXIV ClinVar:SYT14 Ensembl:ENSG00000143469 Genatlas:SYT14 HGNC:23143 OMIM:610949 SwissProt:Q8NB59 SYT14 synaptotagmin 14 Autosomal recessive spinocerebellar ataxia type 12 SCAR12 A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Orphanet ICD-10:G11.1 OMIM:614322 UMLS:C3280452 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614322 E (Exact mapping: the two concepts are equivalent) UMLS:C3280452 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 10 SCAR10 A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Orphanet ICD-10:G11.2 OMIM:613728 UMLS:C3150998 Autosomal recessive Adult Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284289 Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613728 E (Exact mapping: the two concepts are equivalent) UMLS:C3150998 E (Exact mapping: the two concepts are equivalent) 3p22.1-p21.33 FLJ10375 MGC47890 SCAR10 ClinVar:ANO10 Ensembl:ENSG00000160746 Genatlas:ANO10 HGNC:25519 OMIM:613726 Reactome:Q9NW15 SwissProt:Q9NW15 ANO10 anoctamin 10 Essential pentosuria Xylitol dehydrogenase deficiency Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. Orphanet ICD-10:E74.8 ICD-11:5C51.0 MeSH:C536652 MedDRA:10064170 OMIM:260800 UMLS:C0268162 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2843 Pentosuria ORPHA:2843 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536652 E (Exact mapping: the two concepts are equivalent) MedDRA:10064170 E (Exact mapping: the two concepts are equivalent) OMIM:260800 E (Exact mapping: the two concepts are equivalent) UMLS:C0268162 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 7 SCAR7 A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. Orphanet ICD-10:G11.1 MeSH:C563753 OMIM:609270 UMLS:C1836474 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia ORPHA:284324 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563753 E (Exact mapping: the two concepts are equivalent) OMIM:609270 E (Exact mapping: the two concepts are equivalent) UMLS:C1836474 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 6 SCAR6 A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy. Orphanet ICD-10:G11.0 MeSH:C537312 OMIM:608029 UMLS:C1842676 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia ORPHA:284332 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537312 E (Exact mapping: the two concepts are equivalent) OMIM:608029 E (Exact mapping: the two concepts are equivalent) UMLS:C1842676 E (Exact mapping: the two concepts are equivalent) PCH7 Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Orphanet ICD-10:Q04.3 OMIM:614969 UMLS:C3554226 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284339 Pontocerebellar hypoplasia type 7 ORPHA:284339 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614969 E (Exact mapping: the two concepts are equivalent) UMLS:C3554226 E (Exact mapping: the two concepts are equivalent) PPB familial tumor and dysplasia syndrome PPBFTDS Pleuropulmonary blastoma familial tumor and dysplasia syndrome ICD-10:C34.8 OMIM:601200 UMLS:C3839822 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284343 DICER1 tumor-predisposition syndrome ORPHA:284343 ICD-10:C34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3839822 E (Exact mapping: the two concepts are equivalent) FLIT Immature interstitial mesenchymal tumor ICD-10:D14.3 ICD-11:LA75.Y UMLS:C5679952 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284362 Fetal lung interstitial tumor Clinical subtype ORPHA:284362 ICD-10:D14.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA75.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679952 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284385 Familial intrahepatic cholestasis Category ORPHA:284385 RCVS A rare cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. It may occur spontaneously or be provoked by various precipitating factors, the most common being postpartum and exposure to various vasoactive substances such as illicit drugs and selective serotonin-reuptake inhibitors. The major complication is ischemic or hemorrhagic stroke. Orphanet ICD-10:I67.8 ICD-11:8B22.2 MedDRA:10073240 UMLS:C3544214 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284388 Reversible cerebral vasoconstriction syndrome ORPHA:284388 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073240 E (Exact mapping: the two concepts are equivalent) UMLS:C3544214 E (Exact mapping: the two concepts are equivalent) WDFA Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss. Orphanet ICD-10:C34.1 ICD-10:C34.2 ICD-10:C34.3 ICD-10:C34.8 ICD-11:2C25.0 UMLS:C3873372 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284395 Well-differentiated fetal adenocarcinoma of the lung ORPHA:284395 ICD-10:C34.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3873372 E (Exact mapping: the two concepts are equivalent) Poorly differentiated neuroendocrine carcinoma of the bladder SCCB Small cell bladder cancer Small cell bladder carcinoma Small cell carcinoma of the urinary bladder Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course. Orphanet ICD-10:C67.0 ICD-10:C67.1 ICD-10:C67.2 ICD-10:C67.3 ICD-10:C67.4 ICD-10:C67.5 ICD-10:C67.6 ICD-10:C67.7 ICD-10:C67.8 ICD-10:C67.9 ICD-11:2C13.Y UMLS:C1332564 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284400 Small cell carcinoma of the bladder ORPHA:284400 ICD-10:C67.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C67.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C13.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1332564 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xp21 deletion syndrome OBSOLETE: Glycerol kinase deficiency, infantile form ORPHA:284408 Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. Orphanet ICD-10:E74.8 ICD-11:5C51.1 OMIM:307030 UMLS:C5681029 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284411 Glycerol kinase deficiency, juvenile form Clinical subtype ORPHA:284411 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:307030 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681029 E (Exact mapping: the two concepts are equivalent) A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously. Orphanet ICD-10:E74.8 ICD-11:5C51.1 OMIM:307030 UMLS:C5681013 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284414 Glycerol kinase deficiency, adult form Clinical subtype ORPHA:284414 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:307030 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681013 E (Exact mapping: the two concepts are equivalent) PSAT deficiency, infantile/juvenile form A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. Orphanet ICD-10:E72.8 OMIM:610992 UMLS:C1970253 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form Etiological subtype ORPHA:284417 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610992 E (Exact mapping: the two concepts are equivalent) UMLS:C1970253 E (Exact mapping: the two concepts are equivalent) GSD due to lactate dehydrogenase M-subunit deficiency Glycogenosis due to lactate dehydrogenase M-subunit deficiency LDH-M subunit deficiency Lactate dehydrogenase A deficiency A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:C538133 OMIM:612933 UMLS:C2931743 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Clinical subtype ORPHA:284426 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538133 E (Exact mapping: the two concepts are equivalent) OMIM:612933 E (Exact mapping: the two concepts are equivalent) UMLS:C2931743 E (Exact mapping: the two concepts are equivalent) GSD due to lactate dehydrogenase H-subunit deficiency Glycogenosis due to lactate dehydrogenase H-subunit deficiency LDH-H subunit deficiency Lactate dehydrogenase B deficiency ICD-10:E74.0 ICD-11:5C51.3 MeSH:C563641 OMIM:614128 UMLS:C3279904 Autosomal dominant Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Clinical subtype ORPHA:284435 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563641 E (Exact mapping: the two concepts are equivalent) OMIM:614128 E (Exact mapping: the two concepts are equivalent) UMLS:C3279904 E (Exact mapping: the two concepts are equivalent) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology. Orphanet ICD-10:G04.8 ICD-11:8E4A.0 MedDRA:10075197 UMLS:C3854437 Not applicable Adult Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284448 CLIPPERS ORPHA:284448 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10075197 E (Exact mapping: the two concepts are equivalent) UMLS:C3854437 E (Exact mapping: the two concepts are equivalent) AZOOR A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision. Orphanet ICD-10:H35.0 ICD-11:9B65.0 UMLS:C0730298 Not applicable Adolescent Adult Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284454 Acute zonal occult outer retinopathy ORPHA:284454 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0730298 E (Exact mapping: the two concepts are equivalent) AAOR A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed. Orphanet ICD-10:H35.8 UMLS:C5191002 Not applicable Adult Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284460 Acute annular outer retinopathy ORPHA:284460 ICD-10:H35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191002 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare genetic diabetes mellitus OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus ORPHA:28455 Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms). Orphanet ICD-11:LA8D UMLS:C0685699 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2846 Congenital pericardium anomaly Category ORPHA:2846 ICD-11:LA8D - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0685699 E (Exact mapping: the two concepts are equivalent) Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Orphanet ICD-10:Q79.1 UMLS:C4510305 Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2847 Pericardial and diaphragmatic defect ORPHA:2847 ICD-10:Q79.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510305 E (Exact mapping: the two concepts are equivalent) UMLS:C5681011 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284786 Qualitative or quantitative defects of troponin Category ORPHA:284786 UMLS:C5681011 E (Exact mapping: the two concepts are equivalent) UMLS:C5681012 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284790 Qualitative or quantitative defects of tropomyosin Category ORPHA:284790 UMLS:C5681012 E (Exact mapping: the two concepts are equivalent) Arthropathy-camptodactyly syndrome CACP syndrome Pericarditis-arthropathy-camptodactyly syndrome A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. Orphanet ICD-10:M12.8 MeSH:C537560 OMIM:208250 UMLS:C1859690 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome ORPHA:2848 ICD-10:M12.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537560 E (Exact mapping: the two concepts are equivalent) OMIM:208250 E (Exact mapping: the two concepts are equivalent) UMLS:C1859690 E (Exact mapping: the two concepts are equivalent) ICD-11:9E1Y MeSH:D016117 MedDRA:10065276 UMLS:C0078917 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284804 Ocular albinism Clinical group ORPHA:284804 ICD-11:9E1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016117 E (Exact mapping: the two concepts are equivalent) MedDRA:10065276 E (Exact mapping: the two concepts are equivalent) UMLS:C0078917 E (Exact mapping: the two concepts are equivalent) UMLS:C5681016 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284811 Syndromic oculocutaneous albinism Category ORPHA:284811 UMLS:C5681016 E (Exact mapping: the two concepts are equivalent) UMLS:C0268461 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284814 Disorder of phenylalanine metabolism Category ORPHA:284814 UMLS:C0268461 E (Exact mapping: the two concepts are equivalent) ICD-10:E70.2 ICD-11:5C50.1 UMLS:C0268482 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284818 Disorder of tyrosine metabolism Category ORPHA:284818 ICD-10:E70.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C50.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0268482 E (Exact mapping: the two concepts are equivalent) Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Orphanet ICD-10:Q87.3 ICD-11:2C90.Y MeSH:C536399 MedDRA:10088870 OMIM:267000 UMLS:C0796113 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2849 Perlman syndrome ORPHA:2849 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536399 E (Exact mapping: the two concepts are equivalent) MedDRA:10088870 E (Exact mapping: the two concepts are equivalent) OMIM:267000 E (Exact mapping: the two concepts are equivalent) UMLS:C0796113 E (Exact mapping: the two concepts are equivalent) MFS1 ICD-10:Q87.4 ICD-11:LD28.01 OMIM:154700 UMLS:C4721845 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284963 Marfan syndrome type 1 Clinical subtype ORPHA:284963 ICD-10:Q87.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:154700 E (Exact mapping: the two concepts are equivalent) UMLS:C4721845 E (Exact mapping: the two concepts are equivalent) MFS2 ICD-10:Q87.4 ICD-11:LD28.01 OMIM:610168 UMLS:C2931058 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284973 Marfan syndrome type 2 Clinical subtype ORPHA:284973 ICD-10:Q87.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610168 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2931058 E (Exact mapping: the two concepts are equivalent) Neonatal MFS Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. Orphanet ICD-10:Q87.4 ICD-11:LD28.0Y UMLS:C4016054 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284979 Neonatal Marfan syndrome ORPHA:284979 ICD-10:Q87.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4016054 E (Exact mapping: the two concepts are equivalent) A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. Orphanet ICD-10:Q87.8 ICD-11:LD28.0Y OMIM:613795 UMLS:C4760764 Autosomal dominant All ages Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284984 Aneurysm-osteoarthritis syndrome ORPHA:284984 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613795 E (Exact mapping: the two concepts are equivalent) UMLS:C4760764 E (Exact mapping: the two concepts are equivalent) UMLS:C5681015 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=284993 Marfan syndrome and Marfan-related disorders Category ORPHA:284993 UMLS:C5681015 E (Exact mapping: the two concepts are equivalent) EDS III EDS-HT Ehlers-Danlos syndrome hypermobility type Ehlers-Danlos syndrome type 3 Hypermobile EDS hEDS Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:C536196 OMIM:130020 UMLS:C0268337 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=285 Hypermobile Ehlers-Danlos syndrome ORPHA:285 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536196 E (Exact mapping: the two concepts are equivalent) OMIM:130020 E (Exact mapping: the two concepts are equivalent) UMLS:C0268337 E (Exact mapping: the two concepts are equivalent) Perniola-Krajewska-Carnevale syndrome An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Orphanet ICD-10:Q87.8 MeSH:C536660 OMIM:203650 OMIM:610422 OMIM:613930 OMIM:618840 UMLS:C2931280 Neonatal Worldwide AND has_cases/families_value : 15.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2850 Alopecia-intellectual disability syndrome ORPHA:2850 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536660 E (Exact mapping: the two concepts are equivalent) OMIM:203650 E (Exact mapping: the two concepts are equivalent) OMIM:610422 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613930 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618840 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931280 E (Exact mapping: the two concepts are equivalent) UMLS:C5681014 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=285014 Rare disease with thoracic aortic aneurysm and aortic dissection Category ORPHA:285014 UMLS:C5681014 E (Exact mapping: the two concepts are equivalent) 3q27.1 PARK18 p220 ClinVar:EIF4G1 Ensembl:ENSG00000114867 Genatlas:EIF4G1 HGNC:3296 OMIM:600495 Reactome:Q04637 SwissProt:Q04637 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 16q11.2 FLJ10752 MEM3 PARK17 ClinVar:VPS35 Ensembl:ENSG00000069329 Genatlas:VPS35 HGNC:13487 OMIM:601501 Reactome:Q96QK1 SwissProt:Q96QK1 VPS35 VPS35 retromer complex component 2p25.3 D2S448 D2S448E KIAA0230 MG50 PRG2 PXN ClinVar:PXDN Ensembl:ENSG00000130508 Genatlas:PXDN HGNC:14966 OMIM:605158 Reactome:Q92626 SwissProt:Q92626 PXDN peroxidasin 10q22.3 C160 RPC1 RPC155 hRPC155 ClinVar:POLR3A Ensembl:ENSG00000148606 Genatlas:POLR3A HGNC:30074 OMIM:614258 Reactome:O14802 SwissProt:O14802 POLR3A RNA polymerase III subunit A 12q23.3 C128 FLJ10388 RPC2 ClinVar:POLR3B Ensembl:ENSG00000013503 Genatlas:POLR3B HGNC:30348 OMIM:614366 Reactome:Q9NW08 SwissProt:Q9NW08 POLR3B RNA polymerase III subunit B 6p22.1 BTN6 BTNL11 ClinVar:MOG Ensembl:ENSG00000204655 Genatlas:MOG HGNC:7197 OMIM:159465 SwissProt:Q16653 MOG myelin oligodendrocyte glycoprotein 10q22.2 MOZ-related factor MOZ2 Morf ZC2HC6B qkf querkopf ClinVar:KAT6B Ensembl:ENSG00000156650 Genatlas:KAT6B HGNC:17582 IUPHAR:2666 OMIM:605880 Reactome:Q8WYB5 SwissProt:Q8WYB5 KAT6B lysine acetyltransferase 6B 1p34.1 N-acetyllactosaminide alpha-2,3-sialyltransferase ST3Gal III ClinVar:ST3GAL3 Ensembl:ENSG00000126091 Genatlas:ST3GAL3 HGNC:10866 OMIM:606494 Reactome:Q11203 SwissProt:Q11203 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Exner syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hajdu-Cheney syndrome MeSH:C537586 UMLS:C1838257 Serpentine fibula-polycystic kidneys syndrome ORPHA:2853 MeSH:C537586 E (Exact mapping: the two concepts are equivalent) UMLS:C1838257 E (Exact mapping: the two concepts are equivalent) 17q21.2 GT198 HUMGT198A Hop2 TBP-1 interacting protein TBPIP homologous-pairing protein 2 homolog ClinVar:PSMC3IP Ensembl:ENSG00000131470 Genatlas:PSMC3IP HGNC:17928 OMIM:608665 Reactome:Q9P2W1 SwissProt:Q9P2W1 PSMC3IP PSMC3 interacting protein 13q31.3 FLJ14178 LINC00048 MIHG1 MIRH1 NCRNA00048 long intergenic non-protein coding RNA 48 miR-17-92 non-protein coding RNA 48 ClinVar:MIR17HG Ensembl:ENSG00000215417 Genatlas:MIR17HG HGNC:23564 OMIM:609415 SwissProt:Q75NE6 MIR17HG miR-17-92a-1 cluster host gene 4q21.23-q21.3 DKFZP564B1162 FLJ33877 FilGAP ClinVar:ARHGAP24 Ensembl:ENSG00000138639 Genatlas:ARHGAP24 HGNC:25361 OMIM:610586 Reactome:Q8N264 SwissProt:Q8N264 ARHGAP24 Rho GTPase activating protein 24 19q13.33 CPLANE3 FLJ22688 Fy ciliogenesis and planar polarity effector complex subunit 3 ClinVar:FUZ Ensembl:ENSG00000010361 Genatlas:FUZ HGNC:26219 OMIM:610622 Reactome:Q9BT04 SwissProt:Q9BT04 FUZ fuzzy planar cell polarity protein Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome Fuhrmann-Rieger-de Sousa syndrome Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. Orphanet ICD-10:Q74.8 ICD-11:LD2F.1Y MeSH:C538189 OMIM:228930 UMLS:C1856728 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2854 Fuhrmann syndrome ORPHA:2854 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538189 E (Exact mapping: the two concepts are equivalent) OMIM:228930 E (Exact mapping: the two concepts are equivalent) UMLS:C1856728 E (Exact mapping: the two concepts are equivalent) 14q31.3 FLJ11806 NY-REN-37 UKp68 ClinVar:ZC3H14 Ensembl:ENSG00000100722 Genatlas:ZC3H14 HGNC:20509 OMIM:613279 SwissProt:Q6PJT7 ZC3H14 zinc finger CCCH-type containing 14 4p14 CFAP66 DYF-2 FAP66 FLJ23127 IFT144 KIAA1638 NPHP13 ORF26 Oseg6 Pwdmp intraflagellar transport 144 homolog (Chlamydomonas) ClinVar:WDR19 Ensembl:ENSG00000157796 Genatlas:WDR19 HGNC:18340 OMIM:608151 Reactome:Q8NEZ3 SwissProt:Q8NEZ3 WDR19 WD repeat domain 19 13q12.2 60S ribosomal protein L21 DKFZp686C06101 FLJ27458 L21 MGC104274 MGC104275 MGC71252 eL21 ClinVar:RPL21 Ensembl:ENSG00000122026 Genatlas:RPL21 HGNC:10313 OMIM:603636 Reactome:P46778 SwissProt:P46778 RPL21 ribosomal protein L21 13q32.3 FLJ30548 RP11-178C10.1 ClinVar:UBAC2 Ensembl:ENSG00000134882 Genatlas:UBAC2 HGNC:20486 SwissProt:Q8NBM4 UBAC2 UBA domain containing 2 XX gonadal dysgenesis-deafness syndrome XX gonadal dysgenesis-hearing loss syndrome A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females, sometimes progressive neurologic disorder, and exceptionally renal disease. The disease affects both sexes, but hypogonadism is not a feature in males. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C537286 OMIM:233400 OMIM:614129 OMIM:614926 OMIM:615300 OMIM:616138 OMIM:617565 UMLS:C0685838 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 124.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2855 Perrault syndrome ORPHA:2855 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537286 E (Exact mapping: the two concepts are equivalent) OMIM:233400 E (Exact mapping: the two concepts are equivalent) OMIM:614129 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614926 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616138 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617565 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0685838 E (Exact mapping: the two concepts are equivalent) PMDS Persistent Müllerian derivatives Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Orphanet ICD-10:Q55.8 ICD-11:LD2A.Y MeSH:C536665 MedDRA:10081352 OMIM:261550 UMLS:C1849930 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2856 Persistent Müllerian duct syndrome ORPHA:2856 ICD-10:Q55.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536665 E (Exact mapping: the two concepts are equivalent) MedDRA:10081352 E (Exact mapping: the two concepts are equivalent) OMIM:261550 E (Exact mapping: the two concepts are equivalent) UMLS:C1849930 E (Exact mapping: the two concepts are equivalent) ICD-11:5C63.1 UMLS:C5681010 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=285657 Disorder of folate metabolism and transport Category ORPHA:285657 ICD-11:5C63.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681010 E (Exact mapping: the two concepts are equivalent) Yp11.2 CT78 cancer/testis antigen 78 ClinVar:TSPY1 Ensembl:ENSG00000258992 Genatlas:TSPY1 HGNC:12381 OMIM:480100 Reactome:Q01534 SwissProt:Q01534 TSPY1 testis specific protein Y-linked 1 9q21.33 Growth arrest-specific gene-1 ClinVar:GAS1 Ensembl:ENSG00000180447 Genatlas:GAS1 HGNC:4165 OMIM:139185 Reactome:P54826 SwissProt:P54826 GAS1 growth arrest specific 1 Arterial-ecchymotic EDS EDS IV Ehlers-Danlos syndrome type 4 Sack-Barabas syndrome Vascular EDS vEDS A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:D000094623 OMIM:130050 UMLS:C0268338 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=286 Vascular Ehlers-Danlos syndrome ORPHA:286 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000094623 E (Exact mapping: the two concepts are equivalent) OMIM:130050 E (Exact mapping: the two concepts are equivalent) UMLS:C0268338 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inborn errors of metabolism OBSOLETE: Preeyasombat-Varavithya syndrome ORPHA:2860 OBSOLETE: D'Ercole syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Short stature-microcephaly-heart defect syndrome ORPHA:2861 1p36.11 CD240D DIIIc Rh30a Rh4 RhII RhPI SLC42A5 ClinVar:RHD Ensembl:ENSG00000187010 Genatlas:RHD HGNC:10009 OMIM:111680 SwissProt:Q02161 RHD Rh blood group D antigen Stratton-Parker syndrome A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia). Orphanet ICD-10:Q87.1 MeSH:C566105 OMIM:185120 UMLS:C1861448 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2863 Short stature-wormian bones-dextrocardia syndrome ORPHA:2863 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566105 E (Exact mapping: the two concepts are equivalent) OMIM:185120 E (Exact mapping: the two concepts are equivalent) UMLS:C1861448 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia OBSOLETE: Short stature-prognathism-short femoral necks syndrome ORPHA:2864 Al Gazali-Aziz-Salem syndrome Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents. Orphanet ICD-10:Q87.8 MeSH:C535613 UMLS:C2930950 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2865 Short stature-webbed neck-heart disease syndrome ORPHA:2865 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535613 E (Exact mapping: the two concepts are equivalent) UMLS:C2930950 E (Exact mapping: the two concepts are equivalent) 9p21.2 DENND9 DENNL72 MGC23980 ClinVar:C9orf72 Ensembl:ENSG00000147894 Genatlas:C9orf72 HGNC:28337 OMIM:614260 SwissProt:Q96LT7 C9ORF72 C9orf72-SMCR8 complex subunit 16p13.3 Cav3.2 ClinVar:CACNA1H Ensembl:ENSG00000196557 Genatlas:CACNA1H HGNC:1395 IUPHAR:536 OMIM:607904 Reactome:O95180 SwissProt:O95180 CACNA1H calcium voltage-gated channel subunit alpha1 H 7q34 FLJ10842 ClinVar:AGK Ensembl:ENSG00000006530 Genatlas:AGK HGNC:21869 OMIM:610345 Reactome:Q53H12 SwissProt:Q53H12 AGK acylglycerol kinase 22q11.21 DGCR1 DiGeorge critical region gene 1 TUP1 histone regulator A ClinVar:HIRA Ensembl:ENSG00000100084 Genatlas:HIRA HGNC:4916 OMIM:600237 Reactome:P54198 SwissProt:P54198 HIRA histone cell cycle regulator 1q31.3 CFHL FHR1 H36-1 H36-2 ClinVar:CFHR1 Ensembl:ENSG00000244414 Genatlas:CFHR1 HGNC:4888 OMIM:134371 Reactome:Q03591 SwissProt:Q03591 CFHR1 complement factor H related 1 1q31.3 DOWN16 FHR-3 FHR3 HLF4 ClinVar:CFHR3 Ensembl:ENSG00000116785 Genatlas:CFHR3 HGNC:16980 OMIM:605336 Reactome:Q02985 SwissProt:Q02985 CFHR3 complement factor H related 3 Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome Thong-Douglas-Ferrante syndrome A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q87.1 ICD-11:LD2H.Y UMLS:C4274785 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome ORPHA:2866 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274785 E (Exact mapping: the two concepts are equivalent) 1q31.3 FHR-5 FHR5 Factor H related protein 5 factor H related protein 5 ClinVar:CFHR5 Ensembl:ENSG00000134389 Genatlas:CFHR5 HGNC:24668 OMIM:608593 Reactome:Q9BXR6 SwissProt:Q9BXR6 CFHR5 complement factor H related 5 22q11.21 SELZ Selenoprotein Z TR TR3 TRXR2 TXNR2 Thioredoxin reductase beta selenoprotein Z thioredoxin reductase beta ClinVar:TXNRD2 Ensembl:ENSG00000184470 Genatlas:TXNRD2 HGNC:18155 OMIM:606448 Reactome:Q9NNW7 SwissProt:Q9NNW7 TXNRD2 thioredoxin reductase 2 2q33.1 JBTS14 ClinVar:TMEM237 Ensembl:ENSG00000155755 Genatlas:TMEM237 HGNC:14432 OMIM:614423 SwissProt:Q96Q45 TMEM237 transmembrane protein 237 16p11.2 Kid OBP-1 OBP-2 ClinVar:KIF22 Ensembl:ENSG00000079616 Genatlas:KIF22 HGNC:6391 OMIM:603213 Reactome:Q14807 SwissProt:Q14807 KIF22 kinesin family member 22 1p36.13 ClinVar:PLA2G5 Ensembl:ENSG00000127472 Genatlas:PLA2G5 HGNC:9038 IUPHAR:1430 OMIM:601192 Reactome:P39877 SwissProt:P39877 PLA2G5 phospholipase A2 group V Mievis-Verellen-Dumoulin syndrome A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q87.1 ICD-11:LD24.2Y MeSH:C537121 OMIM:601350 UMLS:C1832439 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2867 Short stature, Brussels type ORPHA:2867 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537121 E (Exact mapping: the two concepts are equivalent) OMIM:601350 E (Exact mapping: the two concepts are equivalent) UMLS:C1832439 E (Exact mapping: the two concepts are equivalent) Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. Orphanet ICD-10:Q87.1 OMIM:126190 UMLS:C4274784 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2868 Short stature-valvular heart disease-characteristic facies syndrome ORPHA:2868 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:126190 E (Exact mapping: the two concepts are equivalent) UMLS:C4274784 E (Exact mapping: the two concepts are equivalent) Hamartomatous intestinal polyposis PJS A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies. Orphanet ICD-10:Q85.8 ICD-11:LD2D.0 MeSH:D010580 MedDRA:10034764 OMIM:175200 UMLS:C0031269 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Uruguay AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2869 Peutz-Jeghers syndrome ORPHA:2869 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2D.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010580 E (Exact mapping: the two concepts are equivalent) MedDRA:10034764 E (Exact mapping: the two concepts are equivalent) OMIM:175200 E (Exact mapping: the two concepts are equivalent) UMLS:C0031269 E (Exact mapping: the two concepts are equivalent) Classical EDS cEDS A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Orphanet ICD-10:Q79.6 ICD-11:LD28.10 OMIM:130000 OMIM:130010 UMLS:C4225429 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=287 Classical Ehlers-Danlos syndrome ORPHA:287 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:130000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:130010 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4225429 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Induratio penis plastica NON RARE IN EUROPE: Plastic induration of penis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:N48.6 NON RARE IN EUROPE: Peyronie syndrome ORPHA:2870 ICD-10:N48.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 8p21.3 BMP-1 tolloid-like ClinVar:BMP1 Ensembl:ENSG00000168487 Genatlas:BMP1 HGNC:1067 IUPHAR:2333 OMIM:112264 Reactome:P13497 SwissProt:P13497 BMP1 bone morphogenetic protein 1 Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. Orphanet ICD-10:Q87.1 MeSH:C537889 OMIM:261560 UMLS:C1849929 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2871 Pfeiffer-Palm-Teller syndrome ORPHA:2871 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537889 E (Exact mapping: the two concepts are equivalent) OMIM:261560 E (Exact mapping: the two concepts are equivalent) UMLS:C1849929 E (Exact mapping: the two concepts are equivalent) Craniosynostosis-congenital heart disease-intellectual disability syndrome Pfeiffer-Singer-Zschiesche syndrome A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C535578 OMIM:218450 UMLS:C1857495 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2872 Cardiocranial syndrome, Pfeiffer type ORPHA:2872 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535578 E (Exact mapping: the two concepts are equivalent) OMIM:218450 E (Exact mapping: the two concepts are equivalent) UMLS:C1857495 E (Exact mapping: the two concepts are equivalent) A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. Orphanet ICD-10:Q85.8 ICD-11:LD2D.Y MeSH:C537893 UMLS:C2931658 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2874 Phakomatosis pigmentokeratotica ORPHA:2874 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537893 E (Exact mapping: the two concepts are equivalent) UMLS:C2931658 E (Exact mapping: the two concepts are equivalent) A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics. Orphanet ICD-10:Q85.8 ICD-11:LD2D.Y MeSH:C537894 UMLS:C1274879 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2875 Phakomatosis pigmentovascularis ORPHA:2875 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537894 E (Exact mapping: the two concepts are equivalent) UMLS:C1274879 E (Exact mapping: the two concepts are equivalent) 6q13 ECAT1 ES cell associated transcript 1 ClinVar:KHDC3L Ensembl:ENSG00000203908 Genatlas:KHDC3L HGNC:33699 OMIM:611687 SwissProt:Q587J8 KHDC3L KH domain containing 3 like, subcortical maternal complex member Powell-Chandra-Saal syndrome A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. Orphanet ICD-10:Q87.8 MeSH:C538357 OMIM:261575 UMLS:C1849928 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2876 PHAVER syndrome ORPHA:2876 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538357 E (Exact mapping: the two concepts are equivalent) OMIM:261575 E (Exact mapping: the two concepts are equivalent) UMLS:C1849928 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome OBSOLETE: Stoll-Lévy-Francfort syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with limb reduction defects OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome ORPHA:2878 Al Awadi-Raas-Rothschild syndrome Aplasia/hypoplasia of limbs and pelvis Congenital absence of ulna and fibula Severe limb deficit A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C535612 OMIM:276820 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2879 Phocomelia, Schinzel type ORPHA:2879 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535612 E (Exact mapping: the two concepts are equivalent) OMIM:276820 E (Exact mapping: the two concepts are equivalent) HE Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. Orphanet ICD-10:D58.1 ICD-11:3A10.2 MeSH:D004612 MedDRA:10014490 OMIM:130600 OMIM:235370 OMIM:611804 OMIM:617948 UMLS:C0013902 Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=288 Hereditary elliptocytosis ORPHA:288 ICD-10:D58.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A10.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004612 E (Exact mapping: the two concepts are equivalent) MedDRA:10014490 E (Exact mapping: the two concepts are equivalent) OMIM:130600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:235370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611804 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617948 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0013902 E (Exact mapping: the two concepts are equivalent) PEPCK deficiency A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. Orphanet ICD-10:E74.4 ICD-11:5C53.0Y MeSH:C536654 OMIM:261650 OMIM:261680 UMLS:C0268194 Autosomal recessive Mitochondrial inheritance Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2880 Phosphoenolpyruvate carboxykinase deficiency ORPHA:2880 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C53.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536654 E (Exact mapping: the two concepts are equivalent) OMIM:261650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:261680 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268194 E (Exact mapping: the two concepts are equivalent) A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:L57.8 ICD-11:DB33.Y MeSH:C536224 OMIM:219095 UMLS:C4303808 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2881 Cutaneous photosensitivity-lethal colitis syndrome ORPHA:2881 ICD-10:L57.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB33.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536224 E (Exact mapping: the two concepts are equivalent) OMIM:219095 E (Exact mapping: the two concepts are equivalent) UMLS:C4303808 E (Exact mapping: the two concepts are equivalent) Phytosterolemia Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5</i> (2p21) and <i>ABCG8</i> (2p21) genes. Orphanet ICD-10:E78.0 ICD-11:5C52.1Y MeSH:C537345 MedDRA:10063985 OMIM:210250 OMIM:618666 UMLS:C0342907 Autosomal recessive All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2882 Sitosterolemia ORPHA:2882 ICD-10:E78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537345 E (Exact mapping: the two concepts are equivalent) MedDRA:10063985 E (Exact mapping: the two concepts are equivalent) OMIM:210250 E (Exact mapping: the two concepts are equivalent) OMIM:618666 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342907 E (Exact mapping: the two concepts are equivalent) Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. Orphanet ICD-10:E70.3 ICD-11:EC23.2Y MeSH:D016116 MedDRA:10084262 OMIM:172800 UMLS:C0080024 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2884 Piebaldism ORPHA:2884 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016116 E (Exact mapping: the two concepts are equivalent) MedDRA:10084262 E (Exact mapping: the two concepts are equivalent) OMIM:172800 E (Exact mapping: the two concepts are equivalent) UMLS:C0080024 E (Exact mapping: the two concepts are equivalent) Telfer-Sugar-Jaeger syndrome Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. Orphanet ICD-10:E70.3 MeSH:C536955 OMIM:172850 UMLS:C1868311 No data available Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2885 Piebald trait-neurologic defects syndrome ORPHA:2885 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536955 E (Exact mapping: the two concepts are equivalent) OMIM:172850 E (Exact mapping: the two concepts are equivalent) UMLS:C1868311 E (Exact mapping: the two concepts are equivalent) Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536942 OMIM:311900 UMLS:C1839463 Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2886 TARP syndrome ORPHA:2886 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536942 E (Exact mapping: the two concepts are equivalent) OMIM:311900 E (Exact mapping: the two concepts are equivalent) UMLS:C1839463 E (Exact mapping: the two concepts are equivalent) Chitayat-Meunier-Hodgkinson syndrome Pierre Robin sequence-faciodigital anomaly syndrome A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal. Orphanet ICD-10:Q87.8 MeSH:C564078 OMIM:311895 UMLS:C2931064 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2888 Pierre Robin syndrome-faciodigital anomaly syndrome ORPHA:2888 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564078 E (Exact mapping: the two concepts are equivalent) OMIM:311895 E (Exact mapping: the two concepts are equivalent) UMLS:C2931064 E (Exact mapping: the two concepts are equivalent) Twisted hair Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms). Orphanet ICD-10:Q84.1 ICD-11:EC21.0 MeSH:C562485 OMIM:261900 UMLS:C0263491 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2889 Pili torti ORPHA:2889 ICD-10:Q84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562485 E (Exact mapping: the two concepts are equivalent) OMIM:261900 E (Exact mapping: the two concepts are equivalent) UMLS:C0263491 E (Exact mapping: the two concepts are equivalent) 10q11.22 D10S64 D10S65 D10S66 IRBP RP66 interphotoreceptor retinoid-binding protein interstitial retinol-binding protein 3 ClinVar:RBP3 Ensembl:ENSG00000265203 Genatlas:RBP3 HGNC:9921 IUPHAR:2548 OMIM:180290 Reactome:P10745 SwissProt:P10745 RBP3 retinol binding protein 3 8q22.1 BBS21 Bardet-Biedl syndrome 21 CORD16 FAP418 FLJ30600 MOT25 MOT25. RP64 SMALLTALK cone-rod dystrophy 16 ClinVar:C8orf37 Ensembl:ENSG00000156172 Genatlas:C8orf37 HGNC:27232 OMIM:614477 SwissProt:Q96NL8 CFAP418 cilia and flagella associated protein 418 Chondroectodermal dysplasia Mesodermic dysplasia A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. Orphanet ICD-10:Q77.6 ICD-11:LD27.0Y MeSH:D004613 MedDRA:10008724 OMIM:225500 OMIM:617088 OMIM:618123 UMLS:C0013903 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 500.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289 Ellis Van Creveld syndrome ORPHA:289 ICD-10:Q77.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004613 E (Exact mapping: the two concepts are equivalent) MedDRA:10008724 E (Exact mapping: the two concepts are equivalent) OMIM:225500 E (Exact mapping: the two concepts are equivalent) OMIM:617088 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618123 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0013903 E (Exact mapping: the two concepts are equivalent) A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C537399 UMLS:C4509919 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2890 Pili torti-onychodysplasia syndrome ORPHA:2890 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537399 E (Exact mapping: the two concepts are equivalent) UMLS:C4509919 E (Exact mapping: the two concepts are equivalent) 1q23.3 C-terminal PDZ domain ligand of neuronal nitric oxide synthase CAPON KIAA0464 ClinVar:NOS1AP Ensembl:ENSG00000198929 Genatlas:NOS1AP HGNC:16859 OMIM:605551 SwissProt:O75052 NOS1AP nitric oxide synthase 1 adaptor protein UMLS:C5681017 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289098 Disorders of vitamin D metabolism Category ORPHA:289098 UMLS:C5681017 E (Exact mapping: the two concepts are equivalent) Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. Orphanet ICD-10:Q84.1 MeSH:C537398 OMIM:261990 UMLS:C4274783 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2891 Pili torti-developmental delay-neurological abnormalities syndrome ORPHA:2891 ICD-10:Q84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537398 E (Exact mapping: the two concepts are equivalent) OMIM:261990 E (Exact mapping: the two concepts are equivalent) UMLS:C4274783 E (Exact mapping: the two concepts are equivalent) A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment. Orphanet UMLS:C4302195 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289103 Hypocalcemic rickets Clinical group ORPHA:289103 UMLS:C4302195 E (Exact mapping: the two concepts are equivalent) 1-alpha-hydroxylase deficiency PDDRI Pseudovitamin D-deficient rickets VDDI VDDR-I Vitamin D dependent rickets type I Vitamin D-dependency type I A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. Orphanet ICD-10:E55.0 ICD-11:5C63.20 OMIM:264700 OMIM:600081 UMLS:C0268689 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289157 Hypocalcemic vitamin D-dependent rickets ORPHA:289157 ICD-10:E55.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:264700 E (Exact mapping: the two concepts are equivalent) OMIM:600081 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268689 E (Exact mapping: the two concepts are equivalent) ARHR A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures. Orphanet ICD-10:E83.3 ICD-11:5C63.22 OMIM:241520 OMIM:613312 UMLS:C0342643 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289176 Autosomal recessive hypophosphatemic rickets ORPHA:289176 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:241520 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613312 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342643 E (Exact mapping: the two concepts are equivalent) Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C535763 OMIM:262020 UMLS:C1849805 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2892 Pilodental dysplasia-refractive errors syndrome ORPHA:2892 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535763 E (Exact mapping: the two concepts are equivalent) OMIM:262020 E (Exact mapping: the two concepts are equivalent) UMLS:C1849805 E (Exact mapping: the two concepts are equivalent) Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. Orphanet ICD-10:E72.1 ICD-11:8A61.2Y OMIM:245570 UMLS:C4749281 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ORPHA:289266 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245570 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4749281 E (Exact mapping: the two concepts are equivalent) 16p13.2 GluN2A NR2A ClinVar:GRIN2A Ensembl:ENSG00000183454 Genatlas:GRIN2A HGNC:4585 IUPHAR:456 OMIM:138253 Reactome:Q12879 SwissProt:Q12879 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ADK hypermethioninemia Hypermethioninemia encephalopathy due to ADK deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. Orphanet ICD-10:E72.1 ICD-11:5C50.B OMIM:614300 UMLS:C4706555 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency ORPHA:289290 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614300 E (Exact mapping: the two concepts are equivalent) UMLS:C4706555 E (Exact mapping: the two concepts are equivalent) 10q22.2 AK Adenosine 5'-phosphotransferase adenosine 5'-phosphotransferase ClinVar:ADK Ensembl:ENSG00000156110 Genatlas:ADK HGNC:257 IUPHAR:1231 OMIM:102750 Reactome:P55263 SwissProt:P55263 ADK adenosine kinase Developmental delay due to ALDH6A1 deficiency Developmental delay due to MMSDH deficiency A rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:614105 UMLS:C5190633 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency ORPHA:289307 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614105 E (Exact mapping: the two concepts are equivalent) UMLS:C5190633 E (Exact mapping: the two concepts are equivalent) 14q24.3 malonate-semialdehyde dehydrogenase (acetylating) ClinVar:ALDH6A1 Ensembl:ENSG00000119711 Genatlas:ALDH6A1 HGNC:7179 OMIM:603178 Reactome:Q02252 SwissProt:Q02252 ALDH6A1 aldehyde dehydrogenase 6 family member A1 HAM/TSP HTLV-1-associated myelopathy/tropical spastic paraparesis Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis TSP Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. Orphanet ICD-10:G04.1 ICD-11:8A45.00 MeSH:D015493 MedDRA:10044696 OMIM:159580 UMLS:C0030481 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289326 Tropical spastic paraparesis ORPHA:289326 ICD-10:G04.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A45.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015493 E (Exact mapping: the two concepts are equivalent) MedDRA:10044696 E (Exact mapping: the two concepts are equivalent) OMIM:159580 E (Exact mapping: the two concepts are equivalent) UMLS:C0030481 E (Exact mapping: the two concepts are equivalent) IDH Infective dermatitis associated with human T-lymphotropic virus type 1 Infective dermatitis associated with human T-lymphotropic virus type I Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent <i>Staphylococcus aureus</i> or beta-hemolytic <i>Streptococcus</i> infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms). Orphanet ICD-10:L30.3 UMLS:C4274291 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289347 Infective dermatitis associated with HTLV-1 ORPHA:289347 ICD-10:L30.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274291 E (Exact mapping: the two concepts are equivalent) NGCO Primary non-gestational ovarian choriocarcinoma Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism. Orphanet ICD-10:C56 ICD-11:2C73.Y UMLS:C4274424 Unknown Adolescent Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289356 Primary non-gestational choriocarcinoma of ovary ORPHA:289356 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274424 E (Exact mapping: the two concepts are equivalent) Non-CNS-localized embryonal carcinoma ICD-10:C22.7 UMLS:C5679946 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289362 Non-central nervous system-localized embryonal carcinoma Clinical subtype ORPHA:289362 ICD-10:C22.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679946 E (Exact mapping: the two concepts are equivalent) Familial VUR Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. Orphanet ICD-10:N13.7 ICD-11:GB56.5 OMIM:193000 OMIM:610878 OMIM:613674 OMIM:614317 OMIM:614318 OMIM:614319 OMIM:615390 OMIM:615963 UMLS:C4706552 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289365 Familial vesicoureteral reflux ORPHA:289365 ICD-10:N13.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB56.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:193000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610878 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613674 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614317 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614318 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614319 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615390 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615963 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706552 E (Exact mapping: the two concepts are equivalent) 3p12.3 KIAA1568 ClinVar:ROBO2 Ensembl:ENSG00000185008 Genatlas:ROBO2 HGNC:10250 OMIM:602431 Reactome:Q9HCK4 SwissProt:Q9HCK4 ROBO2 roundabout guidance receptor 2 8q11.23 ClinVar:SOX17 Ensembl:ENSG00000164736 Genatlas:SOX17 HGNC:18122 OMIM:610928 Reactome:Q9H6I2 SwissProt:Q9H6I2 SOX17 SRY-box transcription factor 17 EOMFC Salih myopathy A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life. Orphanet ICD-10:G71.8 MeSH:C567129 OMIM:611705 UMLS:C2673677 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289377 Early-onset myopathy with fatal cardiomyopathy ORPHA:289377 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567129 E (Exact mapping: the two concepts are equivalent) OMIM:611705 E (Exact mapping: the two concepts are equivalent) UMLS:C2673677 E (Exact mapping: the two concepts are equivalent) Congenital myosclerosis, Löwenthal type Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. Orphanet ICD-10:G71.8 ICD-11:8C72.1 MeSH:C564968 MedDRA:10064584 OMIM:255600 UMLS:C1850671 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289380 Myosclerosis ORPHA:289380 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564968 E (Exact mapping: the two concepts are equivalent) MedDRA:10064584 E (Exact mapping: the two concepts are equivalent) OMIM:255600 E (Exact mapping: the two concepts are equivalent) UMLS:C1850671 E (Exact mapping: the two concepts are equivalent) Cancer diagnosed during pregnancy A rare condition characterized by the occurrence and/or diagnosis of a malignancy during pregnancy. The most frequently diagnosed neoplasms are gynecologic tumors, especially cervical cancer, followed by hematologic malignancies. Patient management should be carried out by a multidisciplinary team of specialists. Orphanet ICD-10:O99.8 UMLS:C5679948 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289385 Malignancy diagnosed during pregnancy ORPHA:289385 ICD-10:O99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679948 E (Exact mapping: the two concepts are equivalent) Primary Sjögren-Gougerot syndrome A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma. Orphanet ICD-10:M35.0 ICD-11:4A43.20 OMIM:270150 UMLS:C0151449 Not applicable Adult Brazil AND has_point_prevalence_average_value : 165.98 AND has_point_prevalence_range : >1 / 1000 Denmark AND has_point_prevalence_average_value : 45.47 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 48.99 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 11.343 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_annual_incidence_average_value : 5.3 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 86.398 AND has_point_prevalence_range : 6-9 / 10 000 Italy AND has_point_prevalence_average_value : 30.91 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 49.745 AND has_point_prevalence_range : 1-5 / 10 000 Slovenia AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 9.5 AND has_annual_incidence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 37.15 AND has_point_prevalence_range : 1-5 / 10 000 Turkey AND has_point_prevalence_average_value : 207.83 AND has_point_prevalence_range : >1 / 1000 United States AND has_annual_incidence_average_value : 3.95 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 6.92 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289390 Primary Sjögren syndrome ORPHA:289390 ICD-10:M35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A43.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:270150 E (Exact mapping: the two concepts are equivalent) UMLS:C0151449 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Secondary Sjögren-Gougerot syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Secondary Sjögren syndrome ORPHA:289395 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofacial clefting syndrome OBSOLETE: Pilotto syndrome ORPHA:2894 Congenital absence of fingerprints Immigration delay disease Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. Orphanet ICD-10:Q82.8 OMIM:136000 UMLS:C4706567 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289465 Isolated congenital adermatoglyphia ORPHA:289465 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:136000 E (Exact mapping: the two concepts are equivalent) UMLS:C4706567 E (Exact mapping: the two concepts are equivalent) 4q22.3 DKFZP762K2015 DKFZp762K2015 ETL1 KIAA1122 ClinVar:SMARCAD1 Ensembl:ENSG00000163104 Genatlas:SMARCAD1 HGNC:18398 OMIM:612761 SwissProt:Q9H4L7 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne. Orphanet ICD-10:D89.8 MedDRA:10084535 UMLS:C5191642 No data available Adult Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289478 PASH syndrome ORPHA:289478 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10084535 E (Exact mapping: the two concepts are equivalent) UMLS:C5191642 E (Exact mapping: the two concepts are equivalent) Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. Orphanet ICD-10:H04.8 OMIM:300858 UMLS:C4706563 X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289483 Intellectual disability-alacrima-achalasia syndrome ORPHA:289483 ICD-10:H04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300858 E (Exact mapping: the two concepts are equivalent) UMLS:C4706563 E (Exact mapping: the two concepts are equivalent) 3q28 FLJ10718 MLAT4 procollagen-proline 3-dioxygenase 2 ClinVar:LEPREL1 Ensembl:ENSG00000090530 Genatlas:LEPREL1 HGNC:19317 OMIM:610341 Reactome:Q8IVL5 SwissProt:Q8IVL5 P3H2 prolyl 3-hydroxylase 2 POLR-related leukodystrophy A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. Orphanet ICD-10:G37.8 ICD-11:8A44.Z UMLS:C5679947 Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289494 4H leukodystrophy ORPHA:289494 ICD-10:G37.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679947 E (Exact mapping: the two concepts are equivalent) CCMCO A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Orphanet ICD-10:Q12.0 OMIM:269400 UMLS:C3151617 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289499 Congenital cataract microcornea with corneal opacity ORPHA:289499 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:269400 E (Exact mapping: the two concepts are equivalent) UMLS:C3151617 E (Exact mapping: the two concepts are equivalent) Microphthalmia-intellectual disability syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Micro syndrome UMLS:C2931500 Pinsky-Di George-Harley syndrome ORPHA:2895 UMLS:C2931500 E (Exact mapping: the two concepts are equivalent) CMAMMA Combined malonic and methylmalonic aciduria A rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. Orphanet ICD-10:E71.1 MeSH:C580002 OMIM:614265 UMLS:C3280314 Autosomal dominant Autosomal recessive All ages United States AND has_annual_incidence_average_value : 3.3 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289504 Combined malonic and methylmalonic acidemia ORPHA:289504 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C580002 E (Exact mapping: the two concepts are equivalent) OMIM:614265 E (Exact mapping: the two concepts are equivalent) UMLS:C3280314 E (Exact mapping: the two concepts are equivalent) 16q24.3 malonyl-CoA synthetase ClinVar:ACSF3 Ensembl:ENSG00000176715 Genatlas:ACSF3 HGNC:27288 OMIM:614245 Reactome:Q4G176 SwissProt:Q4G176 ACSF3 acyl-CoA synthetase family member 3 Del(12)(q15)(q21.1) Deletion 12q15q21.1 Monosomy 12q15q21.1 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Orphanet ICD-10:Q93.5 OMIM:618608 UMLS:C4518344 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289513 12q15q21.1 microdeletion syndrome ORPHA:289513 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618608 E (Exact mapping: the two concepts are equivalent) UMLS:C4518344 E (Exact mapping: the two concepts are equivalent) Tetrasomy 11q24.1 Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. Orphanet ICD-10:Q99.8 UMLS:C4749373 Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289522 Microtriplication 11q24.1 syndrome ORPHA:289522 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749373 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated complex I deficiency OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency ORPHA:289527 15q15.1 CGI-65 CIA30 ClinVar:NDUFAF1 Ensembl:ENSG00000137806 Genatlas:NDUFAF1 HGNC:18828 OMIM:606934 Reactome:Q9Y375 SwissProt:Q9Y375 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 Tumor susceptibility linked to germline BAP1 mutations BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. Orphanet ICD-10:D23.9 OMIM:614327 UMLS:C4707290 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289539 BAP1-related tumor predisposition syndrome ORPHA:289539 ICD-10:D23.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614327 E (Exact mapping: the two concepts are equivalent) UMLS:C4707290 E (Exact mapping: the two concepts are equivalent) 3p21.1 KIAA0272 UCHL2 hucep-6 ubiquitin carboxy-terminal hydrolase L2 ClinVar:BAP1 Ensembl:ENSG00000163930 Genatlas:BAP1 HGNC:950 IUPHAR:2332 OMIM:603089 Reactome:Q92560 SwissProt:Q92560 BAP1 BRCA1 associated deubiquitinase 1 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. Orphanet ICD-10:E27.1 OMIM:613743 UMLS:C4707238 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency ORPHA:289548 ICD-10:E27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613743 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707238 E (Exact mapping: the two concepts are equivalent) Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, &#64258;at nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. Orphanet ICD-10:Q87.8 OMIM:615102 UMLS:C3554774 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289553 Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615102 E (Exact mapping: the two concepts are equivalent) UMLS:C3554774 E (Exact mapping: the two concepts are equivalent) MPAN NBIA due to C19orf12 mutation NBIA4 Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation type 4 A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. Orphanet ICD-10:G23.0 ICD-11:5C64.10 OMIM:614298 UMLS:C3280371 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289560 Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614298 E (Exact mapping: the two concepts are equivalent) UMLS:C3280371 E (Exact mapping: the two concepts are equivalent) 19q12 DKFZP762D096 MGC10922 MPAN NBIA4 membrane protein-associated neurodegeneration neurodegeneration with brain iron accumulation 4 ClinVar:C19orf12 Ensembl:ENSG00000131943 Genatlas:C19orf12 HGNC:25443 OMIM:614297 SwissProt:Q9NSK7 C19ORF12 chromosome 19 open reading frame 12 Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. Orphanet MeSH:C565304 UMLS:C3502075 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289573 Multiple mitochondrial dysfunctions syndrome Clinical group ORPHA:289573 MeSH:C565304 E (Exact mapping: the two concepts are equivalent) UMLS:C3502075 E (Exact mapping: the two concepts are equivalent) 2p13.3 CGI-33 NIFUC NifU ClinVar:NFU1 Ensembl:ENSG00000169599 Genatlas:NFU1 HGNC:16287 OMIM:608100 SwissProt:Q9UMS0 NFU1 NFU1 iron-sulfur cluster scaffold 2p13.1 ClinVar:BOLA3 Ensembl:ENSG00000163170 Genatlas:BOLA3 HGNC:24415 OMIM:613183 Reactome:Q53S33 SwissProt:Q53S33 BOLA3 bolA family member 3 Autosomal recessive exfoliative ichthyosis Ichthyosis exfoliativa Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. Orphanet ICD-10:Q80.8 ICD-11:EC20.02 MeSH:C563978 OMIM:607936 OMIM:617115 UMLS:C1838440 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289586 Exfoliative ichthyosis ORPHA:289586 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563978 E (Exact mapping: the two concepts are equivalent) OMIM:607936 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617115 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1838440 E (Exact mapping: the two concepts are equivalent) 3q21.1 stefin A ClinVar:CSTA Ensembl:ENSG00000121552 Genatlas:CSTA HGNC:2481 OMIM:184600 Reactome:P01040 SwissProt:P01040 CSTA cystatin A JNA Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. Orphanet ICD-10:D10.6 ICD-11:2E90.6 UMLS:C1367536 Not applicable Adolescent Childhood Worldwide AND has_annual_incidence_average_value : 0.6666 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289596 Juvenile nasopharyngeal angiofibroma ORPHA:289596 ICD-10:D10.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2E90.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1367536 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C537403 OMIM:610954 UMLS:C1970431 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2896 Pitt-Hopkins syndrome ORPHA:2896 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537403 E (Exact mapping: the two concepts are equivalent) OMIM:610954 E (Exact mapping: the two concepts are equivalent) UMLS:C1970431 E (Exact mapping: the two concepts are equivalent) CALJA Calcification of joints and arteries Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. Orphanet ICD-10:I77.8 MeSH:C565891 OMIM:211800 UMLS:C1859372 Autosomal recessive Adult Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289601 Hereditary arterial and articular multiple calcification syndrome ORPHA:289601 ICD-10:I77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565891 E (Exact mapping: the two concepts are equivalent) OMIM:211800 E (Exact mapping: the two concepts are equivalent) UMLS:C1859372 E (Exact mapping: the two concepts are equivalent) 6q14.3 CALJA CD73 eN eNT ClinVar:NT5E Ensembl:ENSG00000135318 Genatlas:NT5E HGNC:8021 IUPHAR:1232 OMIM:129190 Reactome:P21589 SwissProt:P21589 NT5E 5'-nucleotidase ecto UMLS:C5681008 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289635 Rare virus associated tumor Category ORPHA:289635 UMLS:C5681008 E (Exact mapping: the two concepts are equivalent) EBV-related tumor UMLS:C5679942 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289638 Epstein-Barr Virus-related tumor Category ORPHA:289638 UMLS:C5679942 E (Exact mapping: the two concepts are equivalent) EBV-associated lymphoproliferative disorder MedDRA:10068349 UMLS:C2363744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder Category ORPHA:289644 MedDRA:10068349 E (Exact mapping: the two concepts are equivalent) UMLS:C2363744 E (Exact mapping: the two concepts are equivalent) EBV-associated carcinoma UMLS:C5679940 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289651 Epstein-Barr Virus-associated carcinoma Category ORPHA:289651 UMLS:C5679940 E (Exact mapping: the two concepts are equivalent) EBV-associated mesenchymal tumor UMLS:C5679941 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289656 Epstein-Barr Virus-associated mesenchymal tumor Category ORPHA:289656 UMLS:C5679941 E (Exact mapping: the two concepts are equivalent) EBV-positive DLBCL Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. Orphanet ICD-10:C83.3 ICD-11:2A81.6 UMLS:C2700007 Not applicable Adult Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma ORPHA:289661 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A81.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2700007 E (Exact mapping: the two concepts are equivalent) PBL A rare aggressive B-cell non-Hodgkin lymphoma characterized by neoplastic cells resembling B immunoblasts or plasmablasts with a CD20-negative plasmacytic phenotype. The tumor may occur in the oral cavity, the gastrointestinal tract, or other, predominantly extranodal, sites and is typically associated with immunodeficiency or -suppression. The tumor cells are EBV-positive in most cases. Patients often present with disseminated bone involvement. Paraproteinemia may also be detected. Prognosis is generally poor. Orphanet ICD-10:C83.3 ICD-11:2A81.2 MeSH:D000069293 MedDRA:10065039 UMLS:C3472614 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289666 Plasmablastic lymphoma ORPHA:289666 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000069293 E (Exact mapping: the two concepts are equivalent) MedDRA:10065039 E (Exact mapping: the two concepts are equivalent) UMLS:C3472614 E (Exact mapping: the two concepts are equivalent) Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. Orphanet ICD-10:C80.9 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289682 Lymphoepithelial-like carcinoma ORPHA:289682 ICD-10:C80.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare. Orphanet ICD-10:D21.9 MeSH:D000077777 MedDRA:10083440 UMLS:C1302808 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289685 Myopericytoma ORPHA:289685 ICD-10:D21.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D000077777 E (Exact mapping: the two concepts are equivalent) MedDRA:10083440 E (Exact mapping: the two concepts are equivalent) UMLS:C1302808 E (Exact mapping: the two concepts are equivalent) Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists. Orphanet ICD-10:L44.0 ICD-11:EA94 MeSH:D010916 MedDRA:10035116 OMIM:173200 UMLS:C0032027 Autosomal dominant Not applicable All ages Worldwide AND has_cases/families_value : 48.0 (Case(s)) Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2897 Pityriasis rubra pilaris ORPHA:2897 ICD-10:L44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EA94 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010916 E (Exact mapping: the two concepts are equivalent) MedDRA:10035116 E (Exact mapping: the two concepts are equivalent) OMIM:173200 E (Exact mapping: the two concepts are equivalent) UMLS:C0032027 E (Exact mapping: the two concepts are equivalent) Hyde Forster-McCarthy-Berry syndrome A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.0 MeSH:C537512 OMIM:300064 UMLS:C2931516 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2898 X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537512 E (Exact mapping: the two concepts are equivalent) OMIM:300064 E (Exact mapping: the two concepts are equivalent) UMLS:C2931516 E (Exact mapping: the two concepts are equivalent) UMLS:C5681007 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289825 Late-onset primary lymphedema without systemic or visceral involvement Clinical group ORPHA:289825 UMLS:C5681007 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.3 UMLS:C0041254 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289829 Disorder of tryptophan metabolism Category ORPHA:289829 ICD-11:5C50.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0041254 E (Exact mapping: the two concepts are equivalent) ICD-10:E72.3 ICD-11:5C50.4 UMLS:C0268552 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289832 Disorder of lysine and hydroxylysine metabolism Category ORPHA:289832 ICD-10:E72.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C50.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0268552 E (Exact mapping: the two concepts are equivalent) UMLS:C0342669 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289841 Disorder of glutamine metabolism Category ORPHA:289841 UMLS:C0342669 E (Exact mapping: the two concepts are equivalent) ICD-10:D55.1 ICD-11:3A10.0Y OMIM:266130 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289846 Glutathione synthetase deficiency with 5-oxoprolinuria Clinical subtype ORPHA:289846 ICD-10:D55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:266130 E (Exact mapping: the two concepts are equivalent) ICD-10:D55.1 ICD-11:3A10.0Y OMIM:231900 UMLS:C1856399 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289849 Glutathione synthetase deficiency without 5-oxoprolinuria Clinical subtype ORPHA:289849 ICD-10:D55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:231900 E (Exact mapping: the two concepts are equivalent) UMLS:C1856399 E (Exact mapping: the two concepts are equivalent) Classic glycine encephalopathy Neonatal NKH Neonatal non-ketotic hyperglycinemia Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. Orphanet ICD-10:E72.5 ICD-11:5C50.70 OMIM:605899 UMLS:C5548200 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289857 Neonatal glycine encephalopathy Clinical subtype ORPHA:289857 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605899 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5548200 E (Exact mapping: the two concepts are equivalent) Infantile NKH Infantile non-ketotic hyperglycinemia Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures. Orphanet ICD-10:E72.5 ICD-11:5C50.70 OMIM:605899 UMLS:C5548209 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289860 Infantile glycine encephalopathy Clinical subtype ORPHA:289860 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605899 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5548209 E (Exact mapping: the two concepts are equivalent) Atypical NKA Atypical non-ketotic hyperglycinemia A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy. Orphanet ICD-10:E72.5 ICD-11:5C50.70 OMIM:605899 OMIM:617301 UMLS:C5548198 Unknown All ages Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289863 Atypical glycine encephalopathy Clinical subtype ORPHA:289863 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605899 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:617301 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5548198 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.8 UMLS:C5681004 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289866 Disorder of proline metabolism Category ORPHA:289866 ICD-11:5C50.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681004 E (Exact mapping: the two concepts are equivalent) ICD-10:E72.4 ICD-11:5C50.9 UMLS:C0342690 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289869 Disorder of ornithine metabolism Category ORPHA:289869 ICD-10:E72.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C50.9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342690 E (Exact mapping: the two concepts are equivalent) ICD-10:P74.8 ICD-11:5C50.AY UMLS:C0268549 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289877 Transient hyperammonemia of the newborn ORPHA:289877 ICD-10:P74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.AY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0268549 E (Exact mapping: the two concepts are equivalent) Glycine N-methyltransferase deficiency Hypermethioninemia due to GNMT deficiency Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. Orphanet ICD-10:E72.1 ICD-11:5C50.B OMIM:606664 UMLS:C1847720 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289891 Hypermethioninemia due to glycine N-methyltransferase deficiency ORPHA:289891 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606664 E (Exact mapping: the two concepts are equivalent) UMLS:C1847720 E (Exact mapping: the two concepts are equivalent) 6p21.1 ClinVar:GNMT Ensembl:ENSG00000124713 Genatlas:GNMT HGNC:4415 OMIM:606628 Reactome:Q14749 SwissProt:Q14749 GNMT glycine N-methyltransferase ICD-11:5C50.E UMLS:C0241775 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289899 Organic aciduria Category ORPHA:289899 ICD-11:5C50.E - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0241775 E (Exact mapping: the two concepts are equivalent) Platyspondyly-amelogenesis imperfecta syndrome Verloes-Bourguignon syndrome An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Orphanet ICD-10:Q76.3 ICD-11:LD24.5Y MeSH:C536538 OMIM:601216 UMLS:C1832594 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2899 Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899 ICD-10:Q76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536538 E (Exact mapping: the two concepts are equivalent) OMIM:601216 E (Exact mapping: the two concepts are equivalent) UMLS:C1832594 E (Exact mapping: the two concepts are equivalent) MeSH:C579867 UMLS:C3696376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289902 3-methylglutaconic aciduria Clinical group ORPHA:289902 MeSH:C579867 E (Exact mapping: the two concepts are equivalent) UMLS:C3696376 E (Exact mapping: the two concepts are equivalent) Complete deficiency of methylmalonyl-CoA mutase Vitamin B12-unresponsive methylmalonic aciduria type mut0 Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:251000 UMLS:C0342718 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 Clinical subtype ORPHA:289916 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:251000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0342718 E (Exact mapping: the two concepts are equivalent) Complete mevalonate kinase deficiency MVA A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. Orphanet ICD-10:E88.8 ICD-11:5C52.10 MedDRA:10072219 OMIM:610377 UMLS:C1959626 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=29 Mevalonic aciduria Clinical subtype ORPHA:29 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10072219 E (Exact mapping: the two concepts are equivalent) OMIM:610377 E (Exact mapping: the two concepts are equivalent) UMLS:C1959626 E (Exact mapping: the two concepts are equivalent) CRS Fetal rubella syndrome Mother-to-child transmission of rubella syndrome An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. Orphanet ICD-10:P35.0 ICD-11:KA62.8 MeSH:D012410 MedDRA:10010618 UMLS:C0035921 Not applicable Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.35 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000 Romania AND has_birth_prevalence_average_value : 2.18 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Turkey AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=290 Congenital rubella syndrome ORPHA:290 ICD-10:P35.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA62.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012410 E (Exact mapping: the two concepts are equivalent) MedDRA:10010618 E (Exact mapping: the two concepts are equivalent) UMLS:C0035921 E (Exact mapping: the two concepts are equivalent) Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. Orphanet ICD-10:Q68.8 MeSH:C537118 OMIM:151200 UMLS:C1835450 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2900 Leri pleonosteosis ORPHA:2900 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537118 E (Exact mapping: the two concepts are equivalent) OMIM:151200 E (Exact mapping: the two concepts are equivalent) UMLS:C1835450 E (Exact mapping: the two concepts are equivalent) Acute brachial plexus neuritis Brachial plexus neuritis Immune brachial plexus neuropathy Mononeuritis multiplex with brachial predilection Neuralgic shoulder amyotrophy A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. Orphanet ICD-10:G54.5 ICD-11:8B91.0 MeSH:D020968 MedDRA:10063020 OMIM:162100 UMLS:C1510479 Autosomal dominant Not applicable Adult Europe AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_lifetime_prevalence_average_value : 30.0 AND has_lifetime_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 1.64 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2901 Neuralgic amyotrophy ORPHA:2901 ICD-10:G54.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B91.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020968 E (Exact mapping: the two concepts are equivalent) MedDRA:10063020 E (Exact mapping: the two concepts are equivalent) OMIM:162100 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1510479 E (Exact mapping: the two concepts are equivalent) Xq21.1 CMPX1 MRX97 ZNF4 ZNF5 Zfp711 dJ75N13.1 ClinVar:ZNF711 Ensembl:ENSG00000147180 Genatlas:ZNF711 HGNC:13128 OMIM:314990 Reactome:Q9Y462 SwissProt:Q9Y462 ZNF711 zinc finger protein 711 Chronic eosinophilic pneumonia A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3. Orphanet ICD-10:J82 ICD-11:CB02.11 UMLS:C2930941 Not applicable All ages Iceland AND has_annual_incidence_average_value : 0.23 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2902 Idiopathic chronic eosinophilic pneumonia ORPHA:2902 ICD-10:J82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB02.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2930941 E (Exact mapping: the two concepts are equivalent) Xq13.1 KDAC8 RPD3 ClinVar:HDAC8 Ensembl:ENSG00000147099 Genatlas:HDAC8 HGNC:13315 IUPHAR:2619 OMIM:300269 Reactome:Q9BY41 SwissProt:Q9BY41 HDAC8 histone deacetylase 8 Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. Orphanet ICD-10:J93.1 ICD-11:CB21.1 OMIM:173600 UMLS:C4275252 Autosomal dominant Adolescent Adult Finland AND has_point_prevalence_average_value : 54.64 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2903 Familial spontaneous pneumothorax ORPHA:2903 ICD-10:J93.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:173600 E (Exact mapping: the two concepts are equivalent) UMLS:C4275252 E (Exact mapping: the two concepts are equivalent) 14q23.3 bHLHd4 bHLHd5 bHLHd6 bHLHd7 bHLHd8 ClinVar:MAX Ensembl:ENSG00000125952 Genatlas:MAX HGNC:6913 OMIM:154950 Reactome:P61244 SwissProt:P61244 MAX MYC associated factor X Crow-Fukase syndrome Osteosclerotic myeloma PEP syndrome Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome Takatsuki syndrome POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. Orphanet ICD-10:D47.7 ICD-11:2A83.Y MeSH:D016878 MedDRA:10053869 UMLS:C0085404 Unknown Adult Elderly Europe AND has_point_prevalence_range : Unknown Japan AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2905 POEMS syndrome ORPHA:2905 ICD-10:D47.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A83.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016878 E (Exact mapping: the two concepts are equivalent) MedDRA:10053869 E (Exact mapping: the two concepts are equivalent) UMLS:C0085404 E (Exact mapping: the two concepts are equivalent) Xp11.3 ClinVar:KDM6A Ensembl:ENSG00000147050 Genatlas:KDM6A HGNC:12637 IUPHAR:2684 OMIM:300128 Reactome:O15550 SwissProt:O15550 KDM6A lysine demethylase 6A Weary syndrome A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:Q82.8 ICD-11:LD2B UMLS:C0406556 Infancy Neonatal Worldwide AND has_cases/families_value : 41.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2907 Hereditary acrokeratotic poikiloderma ORPHA:2907 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406556 E (Exact mapping: the two concepts are equivalent) Familial pheochromocytoma-paraganglioma A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms. Orphanet ICD-10:C74.1 ICD-10:C75.5 ICD-10:D35.0 ICD-10:D35.6 OMIM:115310 OMIM:168000 OMIM:171300 OMIM:601650 OMIM:605373 OMIM:614165 OMIM:618464 OMIM:618475 UMLS:C4274332 Autosomal dominant Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=29072 Hereditary pheochromocytoma-paraganglioma ORPHA:29072 ICD-10:C74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D35.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:115310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:168000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:171300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605373 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614165 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618464 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618475 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274332 E (Exact mapping: the two concepts are equivalent) Kahler disease Medullary plasmacytoma Myelomatosis Plasma cell myeloma Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig). Orphanet ICD-10:C90.0 ICD-11:2A83.1 MeSH:D009101 MedDRA:10028228 OMIM:254500 UMLS:C0026764 Not applicable Adult Australia AND has_annual_incidence_average_value : 5.1 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 6.2 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 2.4 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 11.9 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 7.7 AND has_annual_incidence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 5.6 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=29073 Multiple myeloma ORPHA:29073 ICD-10:C90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A83.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009101 E (Exact mapping: the two concepts are equivalent) MedDRA:10028228 E (Exact mapping: the two concepts are equivalent) OMIM:254500 E (Exact mapping: the two concepts are equivalent) UMLS:C0026764 E (Exact mapping: the two concepts are equivalent) Congenital bullous poikiloderma Kindler syndrome Poikiloderma of Kindler A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Orphanet ICD-10:Q81.8 ICD-11:LD2B MeSH:C536321 OMIM:173650 UMLS:C0406557 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2908 Kindler epidermolysis bullosa ORPHA:2908 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536321 E (Exact mapping: the two concepts are equivalent) OMIM:173650 E (Exact mapping: the two concepts are equivalent) UMLS:C0406557 E (Exact mapping: the two concepts are equivalent) UMLS:C5681006 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=290836 Systemic disease with skin involvement Category ORPHA:290836 UMLS:C5681006 E (Exact mapping: the two concepts are equivalent) UMLS:C5681005 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=290839 Autoinflammatory syndrome with immune deficiency Category ORPHA:290839 UMLS:C5681005 E (Exact mapping: the two concepts are equivalent) UMLS:C5681002 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=290842 Autoinflammatory syndrome with skin involvement Category ORPHA:290842 UMLS:C5681002 E (Exact mapping: the two concepts are equivalent) UMLS:C5681003 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=290849 Rare head and neck tumor Category ORPHA:290849 UMLS:C5681003 E (Exact mapping: the two concepts are equivalent) Poikiloderma of Rothmund-Thomson RTS Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. Orphanet ICD-10:Q82.8 ICD-11:LD2B MeSH:D011038 OMIM:268400 UMLS:C0032339 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2909 Rothmund-Thomson syndrome ORPHA:2909 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011038 E (Exact mapping: the two concepts are equivalent) OMIM:268400 E (Exact mapping: the two concepts are equivalent) UMLS:C0032339 E (Exact mapping: the two concepts are equivalent) Antenatal varicella virus infection Mother-to-child transmission of varicella syndrome A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. Orphanet ICD-10:P35.8 ICD-11:KA62.2 UMLS:C4275251 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 130.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=291 Congenital varicella syndrome ORPHA:291 ICD-10:P35.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275251 E (Exact mapping: the two concepts are equivalent) Poland anomaly Poland sequence A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Orphanet ICD-10:Q79.8 ICD-11:LB73.10 MeSH:D011045 MedDRA:10036007 OMIM:173800 UMLS:C0032357 Autosomal dominant Autosomal recessive Multigenic/multifactorial Not applicable Infancy Neonatal Canada AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2911 Poland syndrome ORPHA:2911 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB73.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011045 E (Exact mapping: the two concepts are equivalent) MedDRA:10036007 E (Exact mapping: the two concepts are equivalent) OMIM:173800 E (Exact mapping: the two concepts are equivalent) UMLS:C0032357 E (Exact mapping: the two concepts are equivalent) Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses. Orphanet ICD-10:A80.0 ICD-10:A80.1 ICD-10:A80.2 ICD-10:A80.3 ICD-10:A80.4 ICD-10:A80.9 ICD-11:1C81 MeSH:D011051 MedDRA:10036012 UMLS:C0032371 Not applicable Childhood Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2912 Poliomyelitis ORPHA:2912 ICD-10:A80.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A80.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A80.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A80.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A80.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A80.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011051 E (Exact mapping: the two concepts are equivalent) MedDRA:10036012 E (Exact mapping: the two concepts are equivalent) UMLS:C0032371 E (Exact mapping: the two concepts are equivalent) ICD-11:LB78 MeSH:D017689 MedDRA:10036063 OMIM:603596 UMLS:C0152427 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2913 Non-syndromic polydactyly Category ORPHA:2913 ICD-11:LB78 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017689 E (Exact mapping: the two concepts are equivalent) MedDRA:10036063 E (Exact mapping: the two concepts are equivalent) OMIM:603596 E (Exact mapping: the two concepts are equivalent) UMLS:C0152427 E (Exact mapping: the two concepts are equivalent) 9p13.3 SR-BP1 ClinVar:SIGMAR1 Ensembl:ENSG00000147955 Genatlas:SIGMAR1 HGNC:8157 IUPHAR:2552 OMIM:601978 SwissProt:Q99720 SIGMAR1 sigma non-opioid intracellular receptor 1 Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Orphanet ICD-10:Q87.2 OMIM:263540 UMLS:C4750750 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2916 Postaxial polydactyly-dental and vertebral anomalies syndrome ORPHA:2916 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:263540 E (Exact mapping: the two concepts are equivalent) UMLS:C4750750 E (Exact mapping: the two concepts are equivalent) Czeizel-Brooser syndrome Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q87.2 MeSH:C536331 OMIM:174310 UMLS:C1868117 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2917 Polydactyly-myopia syndrome ORPHA:2917 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536331 E (Exact mapping: the two concepts are equivalent) OMIM:174310 E (Exact mapping: the two concepts are equivalent) UMLS:C1868117 E (Exact mapping: the two concepts are equivalent) 16p11.2 DKFZp547J199 DSPB3 EKD1 Episodic kinesigenic dyskinesia 1 FICCA FLJ25513 IFITMD1 Interferon induced transmembrane protein domain containing 1 PKC Paroxysmal kinesigenic dyskinesia dispanin subfamily B member 3 interferon induced transmembrane protein domain containing 1 ClinVar:PRRT2 Ensembl:ENSG00000167371 Genatlas:PRRT2 HGNC:30500 OMIM:614386 SwissProt:Q7Z6L0 PRRT2 proline rich transmembrane protein 2 7q21.3 ClinVar:DLX5 Ensembl:ENSG00000105880 Genatlas:DLX5 HGNC:2918 OMIM:600028 SwissProt:P56178 DLX5 distal-less homeobox 5 2q35 ATP-binding cassette half-transporter EST45597 MTABC3 umat ClinVar:ABCB6 Ensembl:ENSG00000115657 Genatlas:ABCB6 HGNC:47 IUPHAR:773 OMIM:605452 Reactome:Q9NP58 SwissProt:Q9NP58 ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) 21q22.3 ANKK2 DIK PKC-delta-interacting protein kinase PKK RIP4 protein kinase C-associated kinase ClinVar:RIPK4 Ensembl:ENSG00000183421 Genatlas:RIPK4 HGNC:496 IUPHAR:2192 OMIM:605706 Reactome:P57078 SwissProt:P57078 RIPK4 receptor interacting serine/threonine kinase 4 13q34 Canstatin Collagen type IV alpha 2 DKFZp686I14213 FLJ22259 canstatin ClinVar:COL4A2 Ensembl:ENSG00000134871 Genatlas:COL4A2 HGNC:2203 OMIM:120090 Reactome:P08572 SwissProt:P08572 COL4A2 collagen type IV alpha 2 chain 7q36.1 ENX-1 EZH1 KMT6 KMT6A ClinVar:EZH2 Ensembl:ENSG00000106462 Genatlas:EZH2 HGNC:3527 IUPHAR:2654 OMIM:601573 Reactome:Q15910 SwissProt:Q15910 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 3q22.1-q22.2 OATP2A1 PGT prostaglandin transporter ClinVar:SLCO2A1 Ensembl:ENSG00000174640 Genatlas:SLCO2A1 HGNC:10955 IUPHAR:1223 OMIM:601460 Reactome:Q92959 SwissProt:Q92959 SLCO2A1 solute carrier organic anion transporter family member 2A1 12q13.12 MGC14288 ClinVar:C12orf62 Ensembl:ENSG00000178449 Genatlas:C12orf62 HGNC:28216 OMIM:614478 Reactome:Q96I36 SwissProt:Q96I36 COX14 cytochrome c oxidase assembly factor COX14 18q11.2 ClinVar:GATA6 Ensembl:ENSG00000141448 Genatlas:GATA6 HGNC:4174 OMIM:601656 Reactome:Q92908 SwissProt:Q92908 GATA6 GATA binding protein 6 3p14.3 D3 DNAS1L3 DNase gamma DNaseY LS-DNase LSD ClinVar:DNASE1L3 Ensembl:ENSG00000163687 Genatlas:DNASE1L3 HGNC:2959 OMIM:602244 SwissProt:Q13609 DNASE1L3 deoxyribonuclease 1L3 OFD5 Oral-facial-digital syndrome type 5 Orofaciodigital syndrome, Thurston type Polydactyly postaxial with median cleft of upper lip Thurston syndrome A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Orphanet ICD-10:Q87.0 ICD-11:LD25.00 MeSH:C557819 OMIM:174300 UMLS:C1868118 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2919 Orofaciodigital syndrome type 5 ORPHA:2919 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C557819 E (Exact mapping: the two concepts are equivalent) OMIM:174300 E (Exact mapping: the two concepts are equivalent) UMLS:C1868118 E (Exact mapping: the two concepts are equivalent) 6p21.32 BTL-II BTN7 HSBLMHC1 ClinVar:BTNL2 Ensembl:ENSG00000204290 Genatlas:BTNL2 HGNC:1142 OMIM:606000 Reactome:Q9UIR0 SwissProt:Q9UIR0 BTNL2 butyrophilin like 2 Antenatal enterovirus infection Mother-to-child transmission of enterovirus infection An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations. Orphanet ICD-10:P35.8 ICD-11:KA62.5 UMLS:C4274223 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=292 Congenital enterovirus infection ORPHA:292 ICD-10:P35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KA62.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4274223 E (Exact mapping: the two concepts are equivalent) Postaxial polydactyly-intellectual disability syndrome Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Orphanet ICD-10:Q87.2 ICD-11:LD26.2 MeSH:C564931 OMIM:258200 UMLS:C1850320 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2920 Oliver syndrome ORPHA:2920 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564931 E (Exact mapping: the two concepts are equivalent) OMIM:258200 E (Exact mapping: the two concepts are equivalent) UMLS:C1850320 E (Exact mapping: the two concepts are equivalent) 8q24.13 B22 Complex I B22 subunit LYRM3 UQOR22 complex I B22 subunit ClinVar:NDUFB9 Ensembl:ENSG00000147684 Genatlas:NDUFB9 HGNC:7704 OMIM:601445 Reactome:Q9Y6M9 SwissProt:Q9Y6M9 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 17p13.3 BHLHF42 Fingerin bHLHa9 ClinVar:BHLHA9 Ensembl:ENSG00000205899 Genatlas:BHLHA9 HGNC:35126 OMIM:615416 SwissProt:Q7RTU4 BHLHA9 basic helix-loop-helix family member a9 17q21.32 ClinVar:HOXB13 Ensembl:ENSG00000159184 Genatlas:HOXB13 HGNC:5112 OMIM:604607 SwissProt:Q92826 HOXB13 homeobox B13 Fiessinger-Leroy disease A rare spondyloarthritis characterized by acute or chronic sterile synovitis with or without extra-articular manifestations, becoming manifest after an infection. Orphanet ICD-10:M02.3 ICD-11:FA11.2 MeSH:D016918 MedDRA:10003267 UMLS:C0085435 Multigenic/multifactorial Not applicable Adolescent Adult Elderly Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=29207 Reactive arthritis ORPHA:29207 ICD-10:M02.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FA11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016918 E (Exact mapping: the two concepts are equivalent) MedDRA:10003267 E (Exact mapping: the two concepts are equivalent) UMLS:C0085435 E (Exact mapping: the two concepts are equivalent) 18q22.3 NY-CO-33 TSH1 ClinVar:TSHZ1 Ensembl:ENSG00000179981 Genatlas:TSHZ1 HGNC:10669 OMIM:614427 SwissProt:Q6ZSZ6 TSHZ1 teashirt zinc finger homeobox 1 5q23.2 KIAA1780 SR-F3 ClinVar:MEGF10 Ensembl:ENSG00000145794 Genatlas:MEGF10 HGNC:29634 OMIM:612453 SwissProt:Q96KG7 MEGF10 multiple EGF like domains 10 Pfeiffer-Mayer syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.2 MeSH:C537888 UMLS:C2931655 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2921 Preaxial polydactyly-colobomata-intellectual disability syndrome ORPHA:2921 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537888 E (Exact mapping: the two concepts are equivalent) UMLS:C2931655 E (Exact mapping: the two concepts are equivalent) 3q22.2 FLJ13386 ClinVar:CEP63 Ensembl:ENSG00000182923 Genatlas:CEP63 HGNC:25815 OMIM:614724 Reactome:Q96MT8 SwissProt:Q96MT8 CEP63 centrosomal protein 63 17q21.1 AR7 EAR-7.1/EAR-7.2 ERBA NR1A1 THRA3 THRalpha THRalpha1 THRalpha2 TRalpha TRalpha1 TRalpha2 c-ERBA-1 c-erbA c-erbA protooncogene nuclear receptor subfamily 1 group A member 1 ClinVar:THRA Ensembl:ENSG00000126351 Genatlas:THRA HGNC:11796 IUPHAR:588 OMIM:190120 Reactome:P10827 SwissProt:P10827 THRA thyroid hormone receptor alpha 10q21.1 ClinVar:BICC1 Ensembl:ENSG00000122870 Genatlas:BICC1 HGNC:19351 OMIM:614295 SwissProt:Q9H694 BICC1 BicC family RNA binding protein 1 10p15.1 BABP DD DD2 HAKRD MCDR2 dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III ClinVar:AKR1C2 Ensembl:ENSG00000151632 Genatlas:AKR1C2 HGNC:385 OMIM:600450 Reactome:P52895 SwissProt:P52895 AKR1C2 aldo-keto reductase family 1 member C2 10p15.1 3-alpha hydroxysteroid dehydrogenase, type I 3-alpha-HSD C11 CDR DD4 HAKRA MGC22581 chlordecone reductase chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4 dihydrodiol dehydrogenase 4 ClinVar:AKR1C4 Ensembl:ENSG00000198610 Genatlas:AKR1C4 HGNC:387 OMIM:600451 Reactome:P17516 SwissProt:P17516 AKR1C4 aldo-keto reductase family 1 member C4 9p24.3 BAF190 BRM SNF2 SNF2LA SWI2 Sth1p brahma homolog hBRM hSNF2a ClinVar:SMARCA2 Ensembl:ENSG00000080503 Genatlas:SMARCA2 HGNC:11098 IUPHAR:2739 OMIM:600014 Reactome:P51531 SwissProt:P51531 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 16p11.2 DOMO1 Domino homolog 1 (Drosophila) EAF1 KIAA0309 SWR1 Swi2/Snf2-related ATPase homolog (S. cerevisiae) domino homolog 1 (Drosophila) ClinVar:SRCAP Ensembl:ENSG00000080603 Genatlas:SRCAP HGNC:16974 OMIM:611421 SwissProt:Q6ZRS2 SRCAP Snf2 related CREBBP activator protein 2q33.1 B12 Complex I B12 subunit complex I B12 subunit ClinVar:NDUFB3 Ensembl:ENSG00000119013 Genatlas:NDUFB3 HGNC:7698 OMIM:603839 Reactome:O43676 SwissProt:O43676 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 Xq23 CHL NRLN1 ClinVar:CHRDL1 Ensembl:ENSG00000101938 Genatlas:CHRDL1 HGNC:29861 OMIM:300350 Reactome:Q9BU40 SwissProt:Q9BU40 CHRDL1 chordin like 1 17q12 CSNB1E ClinVar:GPR179 Ensembl:ENSG00000277399 Genatlas:GPR179 HGNC:31371 IUPHAR:211 OMIM:614515 SwissProt:Q6PRD1 GPR179 G protein-coupled receptor 179 17q25.1 FLJ22341 RHBDL5 TOCG iRhom2 ClinVar:RHBDF2 Ensembl:ENSG00000129667 Genatlas:RHBDF2 HGNC:20788 OMIM:614404 SwissProt:Q6PJF5 RHBDF2 rhomboid 5 homolog 2 ADPCLD Autosomal dominant polycystic liver disease PCLD Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). Orphanet ICD-10:Q44.6 ICD-11:DB99.10 MeSH:C536330 MedDRA:10048834 OMIM:174050 OMIM:617004 UMLS:C4255088 Autosomal dominant Not applicable Adult Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2924 Isolated polycystic liver disease ORPHA:2924 ICD-10:Q44.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB99.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536330 E (Exact mapping: the two concepts are equivalent) MedDRA:10048834 E (Exact mapping: the two concepts are equivalent) OMIM:174050 E (Exact mapping: the two concepts are equivalent) OMIM:617004 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4255088 E (Exact mapping: the two concepts are equivalent) 10q23.33 Eg5 HKSP TRIP5 ClinVar:KIF11 Ensembl:ENSG00000138160 Genatlas:KIF11 HGNC:6388 IUPHAR:2788 OMIM:148760 Reactome:P52732 SwissProt:P52732 KIF11 kinesin family member 11 17q21.31 116 kDa U5 small nuclear ribonucleoprotein component SNRNP116 Snrp116 Snu114 U5 snRNP specific protein, 116 kD U5-116KD ClinVar:EFTUD2 Ensembl:ENSG00000108883 Genatlas:EFTUD2 HGNC:30858 OMIM:603892 Reactome:Q15029 SwissProt:Q15029 EFTUD2 elongation factor Tu GTP binding domain containing 2 19p13.3 MGC35334 PRVTIRB TICAM-1 TIR domain-containing adapter molecule 1 TIR domain-containing adaptor-inducing interferon-beta TIR domain-containing adaptor-inducing interferon-ß TRIF proline-rich, vinculin and TIR domain-containing protein B ClinVar:TICAM1 Ensembl:ENSG00000127666 Genatlas:TICAM1 HGNC:18348 OMIM:607601 Reactome:Q8IUC6 SwissProt:Q8IUC6 TICAM1 TIR domain containing adaptor molecule 1 14q32.32 CAP-1 CD40bp CRAF1 LAP1 RNF118 ClinVar:TRAF3 Ensembl:ENSG00000131323 Genatlas:TRAF3 HGNC:12033 OMIM:601896 Reactome:Q13114 SwissProt:Q13114 TRAF3 TNF receptor associated factor 3 12p12.2 OATP1B3 OATP8 ClinVar:SLCO1B3 Ensembl:ENSG00000111700 Genatlas:SLCO1B3 HGNC:10961 IUPHAR:1221 OMIM:605495 Reactome:Q9NPD5 SwissProt:Q9NPD5 SLCO1B3 solute carrier organic anion transporter family member 1B3 2q31.1 WIP ClinVar:WIPF1 Ensembl:ENSG00000115935 Genatlas:WIPF1 HGNC:12736 OMIM:602357 Reactome:O43516 SwissProt:O43516 WIPF1 WAS/WASL interacting protein family member 1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polymicrogyria OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome ORPHA:2925 Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy Hamanishi-Ueba-Tsuji syndrome Polyneuropathy-hand defect syndrome Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q87.8 MeSH:C535624 OMIM:207740 UMLS:C2930955 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2926 Digital extensor muscle aplasia-polyneuropathy ORPHA:2926 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535624 E (Exact mapping: the two concepts are equivalent) OMIM:207740 E (Exact mapping: the two concepts are equivalent) UMLS:C2930955 E (Exact mapping: the two concepts are equivalent) 1q32.1 kisspeptin prepro-kisspeptin ClinVar:KISS1 Ensembl:ENSG00000170498 Genatlas:KISS1 HGNC:6341 OMIM:603286 Reactome:Q15726 SwissProt:Q15726 KISS1 KiSS-1 metastasis suppressor 18q11.2 COM1 CTBP-interacting protein CtIP RIM ClinVar:RBBP8 Ensembl:ENSG00000101773 Genatlas:RBBP8 HGNC:9891 OMIM:604124 Reactome:Q99708 SwissProt:Q99708 RBBP8 RB binding protein 8, endonuclease Lundberg syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. Orphanet ICD-10:Q87.8 UMLS:C4749397 Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome ORPHA:2928 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749397 E (Exact mapping: the two concepts are equivalent) JIP JPS Juvenile gastrointestinal polyposis Juvenile intestinal polyposis A rare inherited cancer-predisposing syndrome characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. Orphanet ICD-10:D12.6 ICD-11:2B90.Y MeSH:C537702 OMIM:174900 OMIM:175050 OMIM:612242 UMLS:C0345893 Autosomal dominant Adolescent Adult Childhood Infancy Europe AND has_annual_incidence_average_value : 3.85 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2929 Juvenile polyposis syndrome ORPHA:2929 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537702 E (Exact mapping: the two concepts are equivalent) OMIM:174900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:175050 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:612242 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0345893 E (Exact mapping: the two concepts are equivalent) 11q12.2 HSPC196 JBTS16 ClinVar:TMEM138 Ensembl:ENSG00000149483 Genatlas:TMEM138 HGNC:26944 OMIM:614459 SwissProt:Q9NPI0 TMEM138 transmembrane protein 138 7q32.2 DKFZp762H1311 FLJ22445 JBTS15 ClinVar:CEP41 Ensembl:ENSG00000106477 Genatlas:CEP41 HGNC:12370 OMIM:610523 Reactome:Q9BYV8 SwissProt:Q9BYV8 CEP41 centrosomal protein 41 Antenatal herpes simplex virus infection Mother-to-child transmission of herpes simplex virus infection Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Orphanet ICD-10:P35.2 ICD-11:1F00.Y UMLS:C4275250 Not applicable Antenatal Neonatal Sweden AND has_annual_incidence_average_value : 6.6 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293 Congenital herpes simplex virus infection ORPHA:293 ICD-10:P35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4275250 E (Exact mapping: the two concepts are equivalent) Gastrointestinal polyposis-ectodermal changes syndrome Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. Orphanet ICD-10:D12.6 ICD-11:LD27.01 MedDRA:10062907 OMIM:175500 UMLS:C0282207 Not applicable Adult Elderly Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2930 Cronkhite-Canada syndrome ORPHA:2930 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10062907 E (Exact mapping: the two concepts are equivalent) OMIM:175500 E (Exact mapping: the two concepts are equivalent) UMLS:C0282207 E (Exact mapping: the two concepts are equivalent) 2q37.1 FLJ36974 MGC42174 ClinVar:DIS3L2 Ensembl:ENSG00000144535 Genatlas:DIS3L2 HGNC:28648 OMIM:614184 SwissProt:Q8IYB7 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 8p11.21 Glvr-2 PIT2 PiT-2 Ram-1 Sodium-dependent phosphate transporter 2 gibbon ape leukemia virus receptor 2 ClinVar:SLC20A2 Ensembl:ENSG00000168575 Genatlas:SLC20A2 HGNC:10947 IUPHAR:1018 OMIM:158378 Reactome:Q08357 SwissProt:Q08357 SLC20A2 solute carrier family 20 member 2 11q24.1 ACAM ASAM Adipocyte adhesion molecule Adipocyte-specific adhesion molecule Coxsackie- and adenovirus receptor-like membrane protein FLJ22415 adipocyte adhesion molecule adipocyte-specific adhesion molecule coxsackie- and adenovirus receptor-like membrane protein ClinVar:ASAM Ensembl:ENSG00000166250 Genatlas:ASAM HGNC:24039 OMIM:611693 SwissProt:Q9H6B4 CLMP CXADR like membrane protein 6p12.1 BP240 BPA CATX-15 FLJ13425 FLJ21489 FLJ30627 FLJ32235 KIAA0728 MACF2 ClinVar:DST Ensembl:ENSG00000151914 Genatlas:DST HGNC:1090 OMIM:113810 Reactome:Q03001 SwissProt:Q03001 DST dystonin 22q12.3 MGC138502 MGC138504 Stargazin stargazin ClinVar:CACNG2 Ensembl:ENSG00000166862 Genatlas:CACNG2 HGNC:1406 OMIM:602911 Reactome:Q9Y698 SwissProt:Q9Y698 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 20q11.23 4.1N KIAA0338 ClinVar:EPB41L1 Ensembl:ENSG00000088367 Genatlas:EPB41L1 HGNC:3378 OMIM:602879 Reactome:Q9H4G0 SwissProt:Q9H4G0 EPB41L1 erythrocyte membrane protein band 4.1 like 1 6q25.3 6A3-5 BAF250b DAN15 ELD/OSA1 KIAA1235 SMARCF2 p250R ClinVar:ARID1B Ensembl:ENSG00000049618 Genatlas:ARID1B HGNC:18040 OMIM:614556 Reactome:Q8NFD5 SwissProt:Q8NFD5 ARID1B AT-rich interaction domain 1B 1p36.11 B120 BAF250 BAF250a C10rf4 P270 ClinVar:ARID1A Ensembl:ENSG00000117713 Genatlas:ARID1A HGNC:11110 OMIM:603024 Reactome:O14497 SwissProt:O14497 ARID1A AT-rich interaction domain 1A 19p13.3 ClinVar:TBXA2R Ensembl:ENSG00000006638 Genatlas:TBXA2R HGNC:11608 IUPHAR:346 OMIM:188070 Reactome:P21731 SwissProt:P21731 TBXA2R thromboxane A2 receptor Hereditary clubfoot due to 5q31 microdeletion ICD-10:Q66.8 ICD-11:LB98.Y OMIM:119800 UMLS:C5679944 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293144 Familial clubfoot due to 5q31 microdeletion Etiological subtype ORPHA:293144 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB98.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:119800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679944 E (Exact mapping: the two concepts are equivalent) Hereditary clubfoot due to PITX1 point mutation ICD-10:Q66.8 ICD-11:LB98.Y OMIM:119800 UMLS:C5679943 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293150 Familial clubfoot due to PITX1 point mutation Etiological subtype ORPHA:293150 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB98.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:119800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679943 E (Exact mapping: the two concepts are equivalent) Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Orphanet ICD-10:Q82.8 UMLS:C4755263 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome ORPHA:293165 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755263 E (Exact mapping: the two concepts are equivalent) IAHSP Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. Orphanet ICD-10:G12.2 MeSH:C537217 OMIM:607225 UMLS:C2931441 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293168 Infantile-onset ascending hereditary spastic paralysis ORPHA:293168 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537217 E (Exact mapping: the two concepts are equivalent) OMIM:607225 E (Exact mapping: the two concepts are equivalent) UMLS:C2931441 E (Exact mapping: the two concepts are equivalent) AGEP Pustular drug eruption Toxic pustuloderma A rare hypersensitivity reaction characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Fever, peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Onset usually occurs 1-12 days after administration of the causal medication and is most frequently associated with beta&#8208;lactam antibiotics, macrolides (including pristinamycin and clindamycin), diltiazem, terbinafine, (hydroxy&#8208;)chloroquine but many other medications have also been implicated. Histology reveals spongiform, subcorneal and/or intraepidermal, pustules but this pattern is not specific (same in pustular psoriasis). Orphanet ICD-10:L27.0 MeSH:D056150 MedDRA:10048799 UMLS:C0877055 Multigenic/multifactorial Not applicable All ages Israel AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293173 Acute generalized exanthematous pustulosis ORPHA:293173 ICD-10:L27.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D056150 E (Exact mapping: the two concepts are equivalent) MedDRA:10048799 E (Exact mapping: the two concepts are equivalent) UMLS:C0877055 E (Exact mapping: the two concepts are equivalent) EIMFS Epilepsy with migrating focal seizure in infancy MMPEI MMPSI MPEI MPSI Malignant migrating partial epilepsy of infancy Malignant migrating partial seizures of infancy Migrating partial epilepsy of infancy Migrating partial seizures of infancy A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability. Orphanet ICD-10:G40.0 ICD-11:8A61.12 MedDRA:10086114 OMIM:613722 OMIM:614959 OMIM:615338 OMIM:616645 UMLS:C3494976 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal United Kingdom AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 114.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293181 Epilepsy of infancy with migrating focal seizures ORPHA:293181 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10086114 E (Exact mapping: the two concepts are equivalent) OMIM:613722 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614959 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615338 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616645 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3494976 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Undifferentiated pleomorphic sarcoma OBSOLETE: Pleomorphic undifferentiated sarcoma ORPHA:293190 A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor. Orphanet ICD-10:C49.9 UMLS:C0334480 Adolescent Adult Childhood Elderly Infancy Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293199 Pleomorphic rhabdomyosarcoma Clinical subtype ORPHA:293199 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0334480 E (Exact mapping: the two concepts are equivalent) CIDP Chronic inflammatory demyelinating polyradiculoneuropathy A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. Orphanet ICD-10:G61.8 ICD-11:8C01.3 MeSH:D020277 MedDRA:10057645 UMLS:C0393819 Not applicable Adolescent Adult Childhood Elderly Australia AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 Egypt AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 3.86 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 1.61 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 7.7 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2932 Chronic inflammatory demyelinating polyneuropathy ORPHA:2932 ICD-10:G61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020277 E (Exact mapping: the two concepts are equivalent) MedDRA:10057645 E (Exact mapping: the two concepts are equivalent) UMLS:C0393819 E (Exact mapping: the two concepts are equivalent) A rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body. Orphanet ICD-10:C49.9 ICD-11:2B5F.2 ICD-11:XH4F96 MedDRA:10015099 UMLS:C0205944 Not applicable Adolescent Adult Childhood Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293202 Epithelioid sarcoma ORPHA:293202 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B5F.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH4F96 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10015099 E (Exact mapping: the two concepts are equivalent) UMLS:C0205944 E (Exact mapping: the two concepts are equivalent) Dunbar syndrome MALS Median arcuate ligament syndrome A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation. Orphanet ICD-10:I77.4 ICD-11:BD52.5 MedDRA:10009838 UMLS:C1861783 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293208 Celiac artery compression syndrome ORPHA:293208 ICD-10:I77.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:BD52.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10009838 E (Exact mapping: the two concepts are equivalent) UMLS:C1861783 E (Exact mapping: the two concepts are equivalent) BH4-responsive HPA/PKU BH4-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive HPA/PKU A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase. Orphanet ICD-10:E70.1 UMLS:C5679945 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Clinical subtype ORPHA:293284 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679945 E (Exact mapping: the two concepts are equivalent) 6p21.2 CAP20 CIP1 Cdk-interacting protein 1 P21 SDI1 WAF1 p21 p21CIP1 p21Cip1/Waf1 ClinVar:CDKN1A Ensembl:ENSG00000124762 Genatlas:CDKN1A HGNC:1784 OMIM:116899 Reactome:P38936 SwissProt:P38936 CDKN1A cyclin dependent kinase inhibitor 1A 9p21.3 CDK4I INK4B MTS2 P15 TP15 p15INK4b ClinVar:CDKN2B Ensembl:ENSG00000147883 Genatlas:CDKN2B HGNC:1788 OMIM:600431 Reactome:P42772 SwissProt:P42772 CDKN2B cyclin dependent kinase inhibitor 2B 1p32.3 INK4C p18 ClinVar:CDKN2C Ensembl:ENSG00000123080 Genatlas:CDKN2C HGNC:1789 OMIM:603369 Reactome:P42773 SwissProt:P42773 CDKN2C cyclin dependent kinase inhibitor 2C 16p11.2 FLJ30542 SH2-B homolog SH2B ClinVar:SH2B1 Ensembl:ENSG00000178188 Genatlas:SH2B1 HGNC:30417 OMIM:608937 Reactome:Q9NRF2 SwissProt:Q9NRF2 SH2B1 SH2B adaptor protein 1 4p16.3 Mdm38 Mdm38 homolog (yeast) SLC55A1 ClinVar:LETM1 Ensembl:ENSG00000168924 Genatlas:LETM1 HGNC:6556 IUPHAR:3025 OMIM:604407 Reactome:O95202 SwissProt:O95202 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 Methylmalonic aciduria without homocystinuria Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. Orphanet Autosomal dominant Autosomal recessive X-linked dominant All ages China AND has_point_prevalence_average_value : 0.0555 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293355 Methylmalonic acidemia without homocystinuria Clinical group ORPHA:293355 GWCD Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. Orphanet ICD-10:H18.5 ICD-11:9A70.Y UMLS:C4305579 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293375 Grayson-Wilbrandt corneal dystrophy ORPHA:293375 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305579 E (Exact mapping: the two concepts are equivalent) Dystrophia Helsinglandica Dystrophia Smolandiensis ERED Recurrent hereditary corneal erosions Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C565155 OMIM:122400 UMLS:C1852551 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 186.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293381 Epithelial recurrent erosion dystrophy ORPHA:293381 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565155 E (Exact mapping: the two concepts are equivalent) OMIM:122400 E (Exact mapping: the two concepts are equivalent) UMLS:C1852551 E (Exact mapping: the two concepts are equivalent) Bonneau syndrome A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported. Orphanet ICD-10:Q87.8 MeSH:C564875 OMIM:263630 UMLS:C1849719 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2934 Polysyndactyly-cardiac malformation syndrome ORPHA:2934 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564875 E (Exact mapping: the two concepts are equivalent) OMIM:263630 E (Exact mapping: the two concepts are equivalent) UMLS:C1849719 E (Exact mapping: the two concepts are equivalent) PDCD Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision. Orphanet ICD-10:H18.5 ICD-11:9A70.Y UMLS:C0339282 Unknown Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293462 Pre-Descemet corneal dystrophy ORPHA:293462 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0339282 E (Exact mapping: the two concepts are equivalent) A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands. Orphanet ICD-10:Q70.4 ICD-11:LD26.2 MeSH:C566773 OMIM:175690 UMLS:C1867999 Autosomal dominant Antenatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2935 Crossed polysyndactyly ORPHA:2935 ICD-10:Q70.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566773 E (Exact mapping: the two concepts are equivalent) OMIM:175690 E (Exact mapping: the two concepts are equivalent) UMLS:C1867999 E (Exact mapping: the two concepts are equivalent) Autosomal recessive CHED Autosomal recessive congenital hereditary endothelial dystrophy CHED2 CHEDII Congenital hereditary endothelial dystrophy type 2 Infantile hereditary endothelial dystrophy Maumenee corneal dystrophy Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. Orphanet ICD-10:H18.5 ICD-11:9A70.0 MeSH:C536439 OMIM:217700 UMLS:C1857569 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293603 Congenital hereditary endothelial dystrophy type II ORPHA:293603 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536439 E (Exact mapping: the two concepts are equivalent) OMIM:217700 E (Exact mapping: the two concepts are equivalent) UMLS:C1857569 E (Exact mapping: the two concepts are equivalent) XECD X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Orphanet ICD-10:H18.5 ICD-11:9A70.0 MeSH:C567587 OMIM:300779 UMLS:C2749049 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293621 X-linked endothelial corneal dystrophy ORPHA:293621 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567587 E (Exact mapping: the two concepts are equivalent) OMIM:300779 E (Exact mapping: the two concepts are equivalent) UMLS:C2749049 E (Exact mapping: the two concepts are equivalent) PYCR1 deficiency Pyrroline-5-carboxylate reductase 1 deficiency ICD-10:Q87.8 OMIM:614438 UMLS:C5679934 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293633 PYCR1-related De Barsy syndrome Etiological subtype ORPHA:293633 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614438 E (Exact mapping: the two concepts are equivalent) UMLS:C5679934 E (Exact mapping: the two concepts are equivalent) BMRS UMLS:C5229849 Autosomal recessive Mitochondrial inheritance X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 58.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293642 Blepharophimosis-intellectual disability syndrome Clinical group ORPHA:293642 UMLS:C5229849 E (Exact mapping: the two concepts are equivalent) BMRS, MKB type BMRS, Maat-Kievit-Brunner type Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type X-linked Ohdo syndrome A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints. Orphanet ICD-10:Q87.8 OMIM:300895 UMLS:C3698541 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293707 Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300895 E (Exact mapping: the two concepts are equivalent) UMLS:C3698541 E (Exact mapping: the two concepts are equivalent) BMRS type V BMRS, Verloes type Blepharophimosis-intellectual disability syndrome type V A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. Orphanet ICD-10:Q87.8 OMIM:604314 UMLS:C4755262 Unknown Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293725 Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604314 E (Exact mapping: the two concepts are equivalent) UMLS:C4755262 E (Exact mapping: the two concepts are equivalent) Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. Orphanet ICD-10:X44 UMLS:C4512018 Not applicable All ages Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293807 Ketamine-induced biliary dilatation ORPHA:293807 ICD-10:X44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4512018 E (Exact mapping: the two concepts are equivalent) A rare hypersensitivity reaction characterized by the appearance of erythematous or violaceous, round, sometimes painful, plaques that may or may not result in long-lasting pigmentation and which recur (usually at the same site) upon re-exposure to the causative medication. The severe form of the disease, generalized bullous fixed drug eruption, occurs typically in the elderly and may be life-threatening. Onset usually occurs 30 minutes to several hours after administration of the causal medication. Many medications, including paracetamol, have been implicated. The disease may rarely be induced by food. Histology is characterized by interface dermatitis or epidermal necrolysis in bullous forms. Orphanet ICD-10:L25.1 ICD-11:EH66 MedDRA:10016740 UMLS:C0221242 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293812 Fixed drug eruption ORPHA:293812 ICD-10:L25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EH66 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10016740 E (Exact mapping: the two concepts are equivalent) UMLS:C0221242 E (Exact mapping: the two concepts are equivalent) UMLS:C5680999 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293815 Toxic dermatosis Category ORPHA:293815 UMLS:C5680999 E (Exact mapping: the two concepts are equivalent) MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. Orphanet ICD-10:C43.9 OMIM:614456 UMLS:C4749577 Adult Elderly Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome ORPHA:293822 ICD-10:C43.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614456 E (Exact mapping: the two concepts are equivalent) UMLS:C4749577 E (Exact mapping: the two concepts are equivalent) CDA IV CDA due to KLF1 mutation CDA type 4 CDA type IV CDAN4 Congenital dyserythropoietic anemia due to KLF1 mutation Congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Orphanet ICD-10:D64.4 OMIM:613673 UMLS:C3150926 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293825 Congenital dyserythropoietic anemia type IV ORPHA:293825 ICD-10:D64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613673 E (Exact mapping: the two concepts are equivalent) UMLS:C3150926 E (Exact mapping: the two concepts are equivalent) UMLS:C5680998 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293830 Constitutional dyserythropoietic anemia Category ORPHA:293830 UMLS:C5680998 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ataxia-telangiectasia variant Fatal infantile encephalopathy-pulmonary hypertension syndrome ORPHA:293838 Craniofacial-ulnar-renal syndrome Malpuech-Michels-Mingarelli-Carnevale syndrome A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:248340 OMIM:257920 OMIM:265050 UMLS:C4303860 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293843 3MC syndrome ORPHA:293843 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248340 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:257920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:265050 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4303860 E (Exact mapping: the two concepts are equivalent) RTLA rvFTD This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Frontotemporal dementia Frontotemporal dementia, right temporal atrophy variant ORPHA:293848 A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. Orphanet ICD-10:Q45.8 OMIM:615710 UMLS:C4751130 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ORPHA:293864 ICD-10:Q45.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615710 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751130 E (Exact mapping: the two concepts are equivalent) 20q12 ClinVar:MAFB Ensembl:ENSG00000204103 Genatlas:MAFB HGNC:6408 OMIM:608968 Reactome:Q9Y5Q3 SwissProt:Q9Y5Q3 MAFB MAF bZIP transcription factor B ALVC Arrhythmogenic cardiomyopathy dominant-left variant Arrhythmogenic cardiomyopathy with left ventricular involvement Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form ICD-10:I42.8 ICD-11:BC43.6 OMIM:107970 OMIM:610193 UMLS:C5679933 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant Clinical subtype ORPHA:293888 ICD-10:I42.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:107970 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610193 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679933 E (Exact mapping: the two concepts are equivalent) Familial isolated arrhythmogenic ventricular dysplasia, biventricular form ICD-10:I42.8 ICD-11:BC43.6 OMIM:107970 OMIM:610193 UMLS:C5679932 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant Clinical subtype ORPHA:293899 ICD-10:I42.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:107970 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610193 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679932 E (Exact mapping: the two concepts are equivalent) Familial isolated arrhytmogenic ventricular dysplasia, right dominant form ICD-10:I42.8 ICD-11:BC43.6 OMIM:107970 OMIM:600996 OMIM:610193 OMIM:615616 OMIM:618920 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant Clinical subtype ORPHA:293910 ICD-10:I42.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:107970 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600996 E (Exact mapping: the two concepts are equivalent) OMIM:610193 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615616 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:618920 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. Orphanet ICD-10:Q87.5 OMIM:614416 UMLS:C4751129 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293925 Lethal occipital encephalocele-skeletal dysplasia syndrome ORPHA:293925 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614416 E (Exact mapping: the two concepts are equivalent) UMLS:C4751129 E (Exact mapping: the two concepts are equivalent) 12q13.13 CIAT CerIII NaCh6 Nav1.6 PN4 ClinVar:SCN8A Ensembl:ENSG00000196876 Genatlas:SCN8A HGNC:10596 IUPHAR:583 OMIM:600702 Reactome:Q9UQD0 SwissProt:Q9UQD0 SCN8A sodium voltage-gated channel alpha subunit 8 Autosomal dominant keratoconus with early-onset anterior polar cataracts Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome Familial keratoconus with cataract KTCNCT A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. Orphanet ICD-10:H18.6 OMIM:614303 UMLS:C3280392 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293936 EDICT syndrome ORPHA:293936 ICD-10:H18.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614303 E (Exact mapping: the two concepts are equivalent) UMLS:C3280392 E (Exact mapping: the two concepts are equivalent) Distal dup(X)q(28) Distal trisomy Xq28 Int22h1/Int22h2 mediated-Xq28 microduplication syndrome A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. Orphanet ICD-10:Q99.8 OMIM:300815 UMLS:C4751127 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293939 Distal Xq28 microduplication syndrome ORPHA:293939 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300815 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4751127 E (Exact mapping: the two concepts are equivalent) Del(1)(p21.3) Monosomy 1p21.3 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term). Orphanet ICD-10:Q93.5 ICD-11:LD44.11 UMLS:C4304578 Unknown No data available Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293948 1p21.3 microdeletion syndrome ORPHA:293948 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304578 E (Exact mapping: the two concepts are equivalent) Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Orphanet ICD-10:G96.8 OMIM:614458 UMLS:C4751138 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency ORPHA:293955 ICD-10:G96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614458 E (Exact mapping: the two concepts are equivalent) UMLS:C4751138 E (Exact mapping: the two concepts are equivalent) HPPD Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. Orphanet ICD-10:Q87.8 OMIM:614187 UMLS:C4751125 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome ORPHA:293958 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614187 E (Exact mapping: the two concepts are equivalent) UMLS:C4751125 E (Exact mapping: the two concepts are equivalent) Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. Orphanet ICD-10:Q87.3 OMIM:240900 UMLS:C4751124 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy ORPHA:293964 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:240900 E (Exact mapping: the two concepts are equivalent) UMLS:C4751124 E (Exact mapping: the two concepts are equivalent) Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Orphanet ICD-10:Q87.8 UMLS:C4751123 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751123 E (Exact mapping: the two concepts are equivalent) DAVID syndrome A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Orphanet ICD-10:E23.0 OMIM:615577 UMLS:C4751122 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome ORPHA:293978 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615577 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4751122 E (Exact mapping: the two concepts are equivalent) ROHHAD ROHHADNET Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated. Orphanet ICD-10:E66.8 MedDRA:10081396 UMLS:C4751121 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 96.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome ORPHA:293987 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10081396 E (Exact mapping: the two concepts are equivalent) UMLS:C4751121 E (Exact mapping: the two concepts are equivalent) Antenatal CMV infection Antenatal cytomegalovirus infection Mother-to-child transmission of cytomegalovirus syndrome A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus <i>in utero</i>. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection. Orphanet ICD-10:P35.1 ICD-11:KA62.3 UMLS:C0349499 Not applicable Antenatal Neonatal Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294 Fetal cytomegalovirus syndrome ORPHA:294 ICD-10:P35.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA62.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0349499 E (Exact mapping: the two concepts are equivalent) A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. Orphanet ICD-10:Q04.6 ICD-11:LA05.60 MeSH:D065708 MedDRA:10036172 OMIM:175780 OMIM:614483 UMLS:C0302892 Multigenic/multifactorial Not applicable Antenatal Infancy Neonatal Japan AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2940 Porencephaly ORPHA:2940 ICD-10:Q04.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA05.60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065708 E (Exact mapping: the two concepts are equivalent) MedDRA:10036172 E (Exact mapping: the two concepts are equivalent) OMIM:175780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614483 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0302892 E (Exact mapping: the two concepts are equivalent) MIC-CAP syndrome MIC-CM syndrome Microcephaly-cutaneous capillary malformation syndrome Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:614261 UMLS:C3280296 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294016 Microcephaly-capillary malformation syndrome ORPHA:294016 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614261 E (Exact mapping: the two concepts are equivalent) UMLS:C3280296 E (Exact mapping: the two concepts are equivalent) Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. Orphanet ICD-10:D84.8 OMIM:614328 OMIM:616069 UMLS:C4751120 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294023 Neonatal inflammatory skin and bowel disease ORPHA:294023 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614328 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616069 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751120 E (Exact mapping: the two concepts are equivalent) Syndactyly-nystagmus syndrome due to dup(2)(q31.1) Syndactyly-nystagmus syndrome due to trisomy 2q31.1 A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Orphanet ICD-10:Q92.3 OMIM:613681 UMLS:C5190993 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication ORPHA:294026 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613681 E (Exact mapping: the two concepts are equivalent) UMLS:C5190993 E (Exact mapping: the two concepts are equivalent) Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Reunion Island Larsen-like syndrome ORPHA:294049 UMLS:C5680997 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294057 Rare nevus Category ORPHA:294057 UMLS:C5680997 E (Exact mapping: the two concepts are equivalent) A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur. Orphanet ICD-11:LD26.40 MeSH:C537377 UMLS:C0265261 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294060 Multiple pterygium syndrome Clinical group ORPHA:294060 ICD-11:LD26.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537377 E (Exact mapping: the two concepts are equivalent) UMLS:C0265261 E (Exact mapping: the two concepts are equivalent) Bonnemann-Meinecke syndrome Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. Orphanet ICD-10:Q87.8 OMIM:601322 UMLS:C0796119 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome ORPHA:2941 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601322 E (Exact mapping: the two concepts are equivalent) UMLS:C0796119 E (Exact mapping: the two concepts are equivalent) Postpolio sequelae Postpolio syndrome Postpoliomyelitic syndrome Postpoliomyelitis sequelae Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. Orphanet ICD-10:G14 ICD-11:8B62 MeSH:D016262 UMLS:C0080040 Not applicable Adolescent Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2942 Postpoliomyelitis syndrome ORPHA:2942 ICD-10:G14 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016262 E (Exact mapping: the two concepts are equivalent) UMLS:C0080040 E (Exact mapping: the two concepts are equivalent) Ivemark II syndrome Renohepaticopancreatic dysplasia Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes. Orphanet ICD-10:Q45.8 MeSH:C567142 OMIM:208540 OMIM:615415 UMLS:C2673883 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294415 Renal-hepatic-pancreatic dysplasia ORPHA:294415 ICD-10:Q45.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567142 E (Exact mapping: the two concepts are equivalent) OMIM:208540 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615415 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2673883 E (Exact mapping: the two concepts are equivalent) CIF Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease). Orphanet ICD-10:K63.8 UMLS:C4274352 Not applicable All ages Italy AND has_birth_prevalence_average_value : 86.0 AND has_birth_prevalence_range : 6-9 / 10 000 Italy AND has_point_prevalence_average_value : 42.4691 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294422 Chronic intestinal failure ORPHA:294422 ICD-10:K63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274352 E (Exact mapping: the two concepts are equivalent) 17p13.2 VRL3 ClinVar:TRPV3 Ensembl:ENSG00000167723 Genatlas:TRPV3 HGNC:18084 IUPHAR:509 OMIM:607066 Reactome:Q8NET8 SwissProt:Q8NET8 TRPV3 transient receptor potential cation channel subfamily V member 3 Brachydactyly, long thumb type A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C566204 OMIM:112430 UMLS:C1862169 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2946 Brachydactyly-long thumb syndrome ORPHA:2946 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566204 E (Exact mapping: the two concepts are equivalent) OMIM:112430 E (Exact mapping: the two concepts are equivalent) UMLS:C1862169 E (Exact mapping: the two concepts are equivalent) 8q11.21 CDC54 DNA replication licensing factor MCM4 MGC33310 P1-Cdc21 hCdc21 ClinVar:MCM4 Ensembl:ENSG00000104738 Genatlas:MCM4 HGNC:6947 OMIM:602638 Reactome:P33991 SwissProt:P33991 MCM4 minichromosome maintenance complex component 4 7q21.11 Coll-1 Hsema-I SEMA1 SemD Sema III coll-1 sema III ClinVar:SEMA3A Ensembl:ENSG00000075213 Genatlas:SEMA3A HGNC:10723 OMIM:603961 Reactome:Q14563 SwissProt:Q14563 SEMA3A semaphorin 3A Carnevale-Hernández-del Castillo-Torres syndrome A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. Orphanet ICD-10:Q74.8 ICD-11:LD26.2 MeSH:C536564 OMIM:190680 UMLS:C1860804 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2947 Triphalangeal thumbs-brachyectrodactyly syndrome ORPHA:2947 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536564 E (Exact mapping: the two concepts are equivalent) OMIM:190680 E (Exact mapping: the two concepts are equivalent) UMLS:C1860804 E (Exact mapping: the two concepts are equivalent) ICD-10:Q73.0 MedDRA:10001926 UMLS:C0002447 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294925 Non-syndromic amelia Clinical group ORPHA:294925 ICD-10:Q73.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10001926 E (Exact mapping: the two concepts are equivalent) UMLS:C0002447 E (Exact mapping: the two concepts are equivalent) Non-syndromic intercalary meromelia UMLS:C5679931 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294927 Non-syndromic intercalary limb defects Clinical group ORPHA:294927 UMLS:C5679931 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Terminal meromelia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic limb reduction defect OBSOLETE: Terminal limb defects ORPHA:294929 OBSOLETE: Fingers absent This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic limb reduction defect OBSOLETE: Adactyly of hand ORPHA:294931 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split hand or/and split foot malformation ORPHA:294935 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly ORPHA:294937 OBSOLETE: Preaxial polydactyly of hand This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of fingers ORPHA:294939 OBSOLETE: Postaxial polydactyly of hand This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic postaxial polydactyly OBSOLETE: Postaxial polydactyly of fingers ORPHA:294942 MeSH:D017880 MedDRA:10024500 UMLS:C0206762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294944 Congenital deformities of limbs Category ORPHA:294944 MeSH:D017880 E (Exact mapping: the two concepts are equivalent) MedDRA:10024500 E (Exact mapping: the two concepts are equivalent) UMLS:C0206762 E (Exact mapping: the two concepts are equivalent) UMLS:C0265605 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294947 Congenital deformities of fingers Category ORPHA:294947 UMLS:C0265605 E (Exact mapping: the two concepts are equivalent) ICD-11:LB90 UMLS:C5680994 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294949 Non-syndromic joint formation defects Category ORPHA:294949 ICD-11:LB90 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680994 E (Exact mapping: the two concepts are equivalent) UMLS:C5437774 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294951 Congenital joint dislocations Category ORPHA:294951 UMLS:C5437774 E (Exact mapping: the two concepts are equivalent) UMLS:C5680996 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294953 Non-syndromic limb overgrowth Category ORPHA:294953 UMLS:C5680996 E (Exact mapping: the two concepts are equivalent) UMLS:C5680995 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294955 Syndrome with limb reduction defects Category ORPHA:294955 UMLS:C5680995 E (Exact mapping: the two concepts are equivalent) ICD-11:LD26.0 UMLS:C5681000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294957 Dysostosis with combined reduction defects of upper and lower limbs Category ORPHA:294957 ICD-11:LD26.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681000 E (Exact mapping: the two concepts are equivalent) ICD-11:LD26.2 UMLS:C5681001 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Category ORPHA:294959 ICD-11:LD26.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681001 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndrome with synostosis or other joint formation defect OBSOLETE: Syndromes with synostoses of limbs ORPHA:294961 MeSH:C562509 MedDRA:10079892 UMLS:C0265259 Autosomal dominant Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294963 Popliteal pterygium syndrome Clinical group ORPHA:294963 MeSH:C562509 E (Exact mapping: the two concepts are equivalent) MedDRA:10079892 E (Exact mapping: the two concepts are equivalent) UMLS:C0265259 E (Exact mapping: the two concepts are equivalent) LCCS A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294965 Lethal congenital contracture syndrome Clinical group ORPHA:294965 Isolated congenital absence of upper limb A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations. Orphanet ICD-10:Q71.0 ICD-11:LB99.0 UMLS:C0265570 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294967 Isolated amelia of upper limb ORPHA:294967 ICD-10:Q71.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB99.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265570 E (Exact mapping: the two concepts are equivalent) Isolated congenital absence of lower limb A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations. Orphanet ICD-10:Q72.0 ICD-11:LB9A.0 UMLS:C0265621 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294969 Isolated amelia of lower limb ORPHA:294969 ICD-10:Q72.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265621 E (Exact mapping: the two concepts are equivalent) Isolated total amelia A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated. Orphanet ICD-10:Q73.0 ICD-11:LB9B MeSH:C536498 Antenatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294971 Isolated tetra-amelia ORPHA:294971 ICD-10:Q73.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB9B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536498 E (Exact mapping: the two concepts are equivalent) Isolated congenital absence of humerus Isolated congenital humeral deficiency Isolated congenital hypoplasia of humerus Isolated humeral intercalary meromelia Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist. Orphanet ICD-10:Q71.8 ICD-11:LB99.1 UMLS:C0685375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294973 Isolated humeral agenesis/hypoplasia ORPHA:294973 ICD-10:Q71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LB99.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0685375 E (Exact mapping: the two concepts are equivalent) Isolated congenital humero-radio-ulnar intercalary transverse meromelia A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome. Orphanet ICD-10:Q71.1 ICD-11:LB99.4 UMLS:C0265574 Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294975 Isolated absence of upper arm and forearm with hand present ORPHA:294975 ICD-10:Q71.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB99.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265574 E (Exact mapping: the two concepts are equivalent) Isolated congenital femoro-tibio-fibular intercalary transverse meromelia Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements. Orphanet ICD-10:Q72.1 ICD-11:LB9A.3 UMLS:C0265626 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294977 Isolated absence of thigh and lower leg with foot present ORPHA:294977 ICD-10:Q72.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265626 E (Exact mapping: the two concepts are equivalent) Isolated congenital radio-ulnar terminal transverse meromelia Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end. Orphanet ICD-10:Q71.2 ICD-11:LB99.5 UMLS:C1306663 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294979 Isolated absence of both forearm and hand ORPHA:294979 ICD-10:Q71.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB99.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1306663 E (Exact mapping: the two concepts are equivalent) Isolated congenital tibiofibular terminal transverse meromelia Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot. Orphanet ICD-10:Q72.2 ICD-11:LB9A.7 UMLS:C3649652 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294981 Isolated absence of both lower leg and foot ORPHA:294981 ICD-10:Q72.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3649652 E (Exact mapping: the two concepts are equivalent) Isolated congenital absence of hand A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral. Orphanet ICD-10:Q71.3 ICD-11:LB99.6 UMLS:C0265594 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294983 Isolated acheiria ORPHA:294983 ICD-10:Q71.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB99.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265594 E (Exact mapping: the two concepts are equivalent) Isolated congenital absence of foot A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral. Orphanet ICD-10:Q72.3 ICD-11:LB9A.4 UMLS:C0265624 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294986 Isolated apodia ORPHA:294986 ICD-10:Q72.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265624 E (Exact mapping: the two concepts are equivalent) Isolated congenital absence/hypoplasia of thumb Isolated congenital thumb hypodactyly Isolated congenital thumb oligodactyly A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome. Orphanet ICD-10:Q71.3 ICD-11:LB99.7 UMLS:C0431890 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=294988 Isolated hypoplasia of thumb ORPHA:294988 ICD-10:Q71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB99.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431890 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Digits 2-5 hypodactyly OBSOLETE: Digits 2-5 oligodactyly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb ORPHA:294990 OBSOLETE: Ectrodactyly of hand This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split hand ORPHA:294992 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split foot ORPHA:294994 OBSOLETE: Short fingers This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of fingers ORPHA:294996 OBSOLETE: Short toes This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of toes ORPHA:294998 Mother-to-child transmission of parvovirus syndrome Parvovirus antenatal infection Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. Orphanet ICD-10:P35.8 ICD-11:KA62.7 MeSH:C536301 UMLS:C2931167 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295 Fetal parvovirus syndrome ORPHA:295 ICD-10:P35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KA62.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536301 E (Exact mapping: the two concepts are equivalent) UMLS:C2931167 E (Exact mapping: the two concepts are equivalent) TPT-PS syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome MeSH:C536563 Triphalangeal thumb-polysyndactyly syndrome ORPHA:2950 MeSH:C536563 E (Exact mapping: the two concepts are equivalent) ABS Amniotic band sequence Congenital constriction ring syndrome Congenital ring constrictions Constriction band syndrome Streeter dysplasia Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. Orphanet ICD-10:Q79.8 ICD-11:LD26.5 MeSH:D000652 MedDRA:10064100 OMIM:217100 UMLS:C0002636 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295000 Amniotic band syndrome ORPHA:295000 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000652 E (Exact mapping: the two concepts are equivalent) MedDRA:10064100 E (Exact mapping: the two concepts are equivalent) OMIM:217100 E (Exact mapping: the two concepts are equivalent) UMLS:C0002636 E (Exact mapping: the two concepts are equivalent) Isolated congenital supernumerary phalanges Supernumerary phalanx Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies. Orphanet ICD-10:Q74.8 ICD-11:LB77 UMLS:C4706507 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295002 Isolated hyperphalangy ORPHA:295002 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB77 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4706507 E (Exact mapping: the two concepts are equivalent) Mesoaxial polydactyly A rare congenital limb malformation characterized by complete or partial duplication of one of the three middle digits in a hand or foot. It most commonly affects the fourth digit. The malformation may be unilateral or bilateral and can occur as an isolated defect or in association with other anomalies. Orphanet ICD-10:Q69.0 ICD-11:LB78.3 ICD-11:LB78.Y UMLS:C0431903 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295004 Central polydactyly ORPHA:295004 ICD-10:Q69.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LB78.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431903 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Bifid great toes OBSOLETE: Bifid halluces OBSOLETE: Bifid hallux OBSOLETE: Preaxial polydactyly of foot This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of toes ORPHA:295006 OBSOLETE: Postaxial polydactyly of foot This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic postaxial polydactyly OBSOLETE: Postaxial polydactyly of toes ORPHA:295008 OBSOLETE: Central polydactyly of foot OBSOLETE: Mesoaxial polydactyly of toes OBSOLETE: Mirror foot This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of toes ORPHA:295010 Mitten hand Syndactyly, mitten type Unilateral syndactyly of digits 2-5 A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers. Orphanet ICD-10:Q70.1 ICD-11:LB79.Y UMLS:C4706525 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295012 Syndactyly type 6 ORPHA:295012 ICD-10:Q70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706525 E (Exact mapping: the two concepts are equivalent) Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. Orphanet ICD-10:Q68.1 ICD-11:LB80.0 UMLS:C4706540 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295014 Familial isolated clinodactyly of fingers ORPHA:295014 ICD-10:Q68.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706540 E (Exact mapping: the two concepts are equivalent) Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. Orphanet ICD-10:Q68.1 ICD-11:LB80.Y OMIM:114200 UMLS:C5551400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295016 Camptodactyly of fingers ORPHA:295016 ICD-10:Q68.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB80.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:114200 E (Exact mapping: the two concepts are equivalent) UMLS:C5551400 E (Exact mapping: the two concepts are equivalent) Congenital pseudarthrosis of the tibia A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1. Orphanet ICD-10:Q74.2 ICD-11:LB9Y UMLS:C0265661 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295018 Congenital pseudoarthrosis of the tibia Clinical subtype ORPHA:295018 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB9Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0265661 E (Exact mapping: the two concepts are equivalent) Congenital pseudarthrosis of the femur A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association. Orphanet ICD-10:Q74.2 ICD-11:LB9Y UMLS:C5679939 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295020 Congenital pseudoarthrosis of the femur Clinical subtype ORPHA:295020 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB9Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679939 E (Exact mapping: the two concepts are equivalent) Congenital pseudarthrosis of the fibula A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1. Orphanet ICD-10:Q74.2 ICD-11:LB9Y UMLS:C5679935 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295022 Congenital pseudoarthrosis of the fibula Clinical subtype ORPHA:295022 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB9Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679935 E (Exact mapping: the two concepts are equivalent) Congenital pseudarthrosis of the radius A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated. Orphanet ICD-10:Q74.0 ICD-11:LB9Y UMLS:C5679936 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295024 Congenital pseudoarthrosis of the radius Clinical subtype ORPHA:295024 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB9Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679936 E (Exact mapping: the two concepts are equivalent) Congenital pseudarthrosis of the ulna A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated. Orphanet ICD-10:Q74.0 ICD-11:LB9Y UMLS:C5679937 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295026 Congenital pseudoarthrosis of the ulna Clinical subtype ORPHA:295026 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB9Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679937 E (Exact mapping: the two concepts are equivalent) Isolated congenital tibiofibular fusion Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. Orphanet ICD-10:Q74.2 ICD-11:LB90.6 UMLS:C4545230 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295028 Isolated tibio-fibular synostosis ORPHA:295028 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB90.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4545230 E (Exact mapping: the two concepts are equivalent) A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation. Orphanet ICD-10:Q68.8 ICD-11:LB91 UMLS:C0265562 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295030 True congenital shoulder dislocation ORPHA:295030 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB91 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265562 E (Exact mapping: the two concepts are equivalent) Isolated congenital elbow dislocation A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis. Orphanet ICD-10:Q68.8 ICD-11:LB92 UMLS:C5679938 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295032 Isolated congenital radial head dislocation ORPHA:295032 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB92 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679938 E (Exact mapping: the two concepts are equivalent) A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita). Orphanet ICD-10:Q68.2 ICD-11:LB93 MedDRA:10010520 UMLS:C0265669 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295034 Congenital knee dislocation ORPHA:295034 ICD-10:Q68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB93 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10010520 E (Exact mapping: the two concepts are equivalent) UMLS:C0265669 E (Exact mapping: the two concepts are equivalent) A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome. Orphanet ICD-10:Q74.1 ICD-11:LB94 MeSH:C538081 UMLS:C0345360 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295036 Congenital patella dislocation ORPHA:295036 ICD-10:Q74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB94 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538081 E (Exact mapping: the two concepts are equivalent) UMLS:C0345360 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Patella aplasia/hypoplasia OBSOLETE: Patella aplasia/hypoplasia, unilateral ORPHA:295038 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Patella aplasia/hypoplasia OBSOLETE: Patella aplasia/hypoplasia, bilateral ORPHA:295041 Macrodactyly of hand A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion. Orphanet ICD-10:Q74.0 ICD-11:LB97.0 MeSH:C537720 UMLS:C0574044 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295044 Macrodactyly of fingers ORPHA:295044 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB97.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537720 E (Exact mapping: the two concepts are equivalent) UMLS:C0574044 E (Exact mapping: the two concepts are equivalent) Macrodactyly of foot A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. Orphanet ICD-10:Q74.2 ICD-11:LB97.1 UMLS:C0158768 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295047 Macrodactyly of toes ORPHA:295047 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LB97.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0158768 E (Exact mapping: the two concepts are equivalent) ICD-10:Q74.0 ICD-11:LB97.2 UMLS:C0575518 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295049 Upper limb hypertrophy ORPHA:295049 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB97.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0575518 E (Exact mapping: the two concepts are equivalent) A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia. Orphanet ICD-10:Q74.2 ICD-11:LB97.3 UMLS:C0431928 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295051 Lower limb hypertrophy ORPHA:295051 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB97.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0431928 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Amelia of upper limb OBSOLETE: Amelia of upper limb, unilateral ORPHA:295053 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Amelia of upper limb OBSOLETE: Amelia of upper limb, bilateral ORPHA:295055 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Amelia of lower limb OBSOLETE: Amelia of lower limb, unilateral ORPHA:295057 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Amelia of lower limb OBSOLETE: Amelia of lower limb, bilateral ORPHA:295059 OBSOLETE: Humeral intercalary meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humeral agenesis/hypoplasia OBSOLETE: Humeral agenesis/hypoplasia, unilateral ORPHA:295061 OBSOLETE: Humeral intercalary meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humeral agenesis/hypoplasia OBSOLETE: Humeral agenesis/hypoplasia, bilateral ORPHA:295063 OBSOLETE: Femoral intercalary meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated femoral agenesis/hypoplasia OBSOLETE: Femoral agenesis/hypoplasia, unilateral ORPHA:295065 OBSOLETE: Femoral intercalary meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated femoral agenesis/hypoplasia OBSOLETE: Femoral agenesis/hypoplasia, bilateral ORPHA:295067 OBSOLETE: Radial longitidinal meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radial hemimelia OBSOLETE: Radial hemimelia, unilateral ORPHA:295069 OBSOLETE: Radial longitidinal meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radial hemimelia OBSOLETE: Radial hemimelia, bilateral ORPHA:295071 OBSOLETE: Ulnar longitudinal meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated ulnar hemimelia OBSOLETE: Ulnar hemimelia, bilateral ORPHA:295073 OBSOLETE: Ulnar longitudinal meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated ulnar hemimelia OBSOLETE: Ulnar hemimelia, unilateral ORPHA:295075 OBSOLETE: Tibial longitudinal meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated tibial hemimelia OBSOLETE: Tibial hemimelia, unilateral ORPHA:295077 OBSOLETE: Tibial longitudinal meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated tibial hemimelia OBSOLETE: Tibial hemimelia, bilateral ORPHA:295079 OBSOLETE: Fibular longitudinal meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated fibular hemimelia OBSOLETE: Fibular hemimelia, unilateral ORPHA:295081 OBSOLETE: Fibular longitudinal meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated fibular hemimelia OBSOLETE: Fibular hemimelia, bilateral ORPHA:295083 OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of upper arm and forearm with hand present OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral ORPHA:295085 OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of upper arm and forearm with hand present OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral ORPHA:295087 OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of thigh and lower leg with foot present OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral ORPHA:295089 OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of thigh and lower leg with foot present OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral ORPHA:295091 OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both forearm and hand OBSOLETE: Congenital absence of both forearm and hand, unilateral ORPHA:295093 OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both forearm and hand OBSOLETE: Congenital absence of both forearm and hand, bilateral ORPHA:295095 OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both lower leg and foot OBSOLETE: Congenital absence of both lower leg and foot, unilateral ORPHA:295097 OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both lower leg and foot OBSOLETE: Congenital absence of both lower leg and foot, bilateral ORPHA:295099 An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Orphanet ICD-10:D82.8 ICD-11:4A01.1Y OMIM:274190 UMLS:C4304503 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2951 Absent thumb-short stature-immunodeficiency syndrome ORPHA:2951 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:274190 E (Exact mapping: the two concepts are equivalent) UMLS:C4304503 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Congenital absence of hand, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated acheiria OBSOLETE: Acheiria, unilateral ORPHA:295101 OBSOLETE: Congenital absence of hand, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated acheiria OBSOLETE: Acheiria, bilateral ORPHA:295103 OBSOLETE: Congenital absence of foot, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated apodia OBSOLETE: Apodia, unilateral ORPHA:295105 OBSOLETE: Congenital absence of foot, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated apodia OBSOLETE: Apodia, bilateral ORPHA:295107 OBSOLETE: Thumb hypodactyly, unilateral OBSOLETE: Thumb oligodactyly, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hypoplasia of thumb OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral ORPHA:295110 OBSOLETE: Thumb hypodactyly, bilateral OBSOLETE: Thumb oligodactyly, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hypoplasia of thumb OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral ORPHA:295112 OBSOLETE: Adactyly of hand, bilateral OBSOLETE: Digits 2-5 hypodactyly, bilateral OBSOLETE: Digits 2-5 oligodactyly, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral ORPHA:295114 OBSOLETE: Congenital absence of toes, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Adactyly of foot, unilateral ORPHA:295116 OBSOLETE: Congenital absence of toes, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Adactyly of foot, bilateral ORPHA:295118 OBSOLETE: Ectrodactyly of hand, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split hand, unilateral ORPHA:295120 OBSOLETE: Ectrodactyly of hand, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split hand, bilateral ORPHA:295122 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split foot, unilateral ORPHA:295124 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split foot, bilateral ORPHA:295126 OBSOLETE: Short fingers, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of fingers, unilateral ORPHA:295128 OBSOLETE: Short fingers, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of fingers, bilateral ORPHA:295130 OBSOLETE: Short toes, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of toes, unilateral ORPHA:295132 OBSOLETE: Short toes, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of toes, bilateral ORPHA:295134 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Symbrachydactyly of hand and foot, unilateral ORPHA:295136 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Symbrachydactyly of hand and foot, bilateral ORPHA:295138 OBSOLETE: Hyperphalangy in digits 2-5 OBSOLETE: Supernumerary phalanges, unilateral OBSOLETE: Supernumerary phalanx, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hyperphalangy OBSOLETE: Hyperphalangy, unilateral ORPHA:295140 OBSOLETE: Supernumerary phalanges, bilateral OBSOLETE: Supernumerary phalanx, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hyperphalangy OBSOLETE: Hyperphalangy, bilateral ORPHA:295142 OBSOLETE: Preaxial polydactyly type 1, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a biphalangeal thumb and/or hallux OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral ORPHA:295144 OBSOLETE: Preaxial polydactyly type 1, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a biphalangeal thumb and/or hallux OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral ORPHA:295146 OBSOLETE: Preaxial polydactyly type 2, unilateral OBSOLETE: Unilateral PPD2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a triphalangeal thumb OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral ORPHA:295148 OBSOLETE: Bilateral PPD2 OBSOLETE: Preaxial polydactyly type 2, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a triphalangeal thumb OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral ORPHA:295150 OBSOLETE: Preaxial polydactyly type 3, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of an index finger OBSOLETE: Polydactyly of an index finger, unilateral ORPHA:295152 OBSOLETE: Preaxial polydactyly type 3, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of an index finger OBSOLETE: Polydactyly of an index finger, bilateral ORPHA:295154 OBSOLETE: Preaxial polydactyly type 4, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polysyndactyly OBSOLETE: Polysyndactyly, unilateral ORPHA:295159 OBSOLETE: Preaxial polydactyly type 4, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polysyndactyly OBSOLETE: Polysyndactyly, bilateral ORPHA:295161 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Postaxial polydactyly type A OBSOLETE: Postaxial polydactyly type A, unilateral ORPHA:295163 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Postaxial polydactyly type A OBSOLETE: Postaxial polydactyly type A, bilateral ORPHA:295165 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Postaxial polydactyly type B OBSOLETE: Postaxial polydactyly type B, unilateral ORPHA:295167 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Postaxial polydactyly type B OBSOLETE: Postaxial polydactyly type B, bilateral ORPHA:295169 OBSOLETE: Mesoaxial polydactyly of fingers, unilateral OBSOLETE: Mirror hand, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of fingers, unilateral ORPHA:295171 OBSOLETE: Mesoaxial polydactyly of fingers, bilateral OBSOLETE: Mirror hand, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of fingers, bilateral ORPHA:295173 OBSOLETE: Bifid great toes, unilateral OBSOLETE: Bifid halluces, unilateral OBSOLETE: Bifid hallux, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of toes, unilateral ORPHA:295175 OBSOLETE: Bifid great toes, bilateral OBSOLETE: Bifid halluces, bilateral OBSOLETE: Bifid hallux, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of toes, bilateral ORPHA:295177 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic postaxial polydactyly OBSOLETE: Postaxial polydactyly of toes, unilateral ORPHA:295179 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic postaxial polydactyly OBSOLETE: Postaxial polydactyly of toes, bilateral ORPHA:295181 OBSOLETE: Mesoaxial polydactyly of toes, unilateral OBSOLETE: Mirror foot, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of toes, unilateral ORPHA:295183 OBSOLETE: Mesoaxial polydactyly of toes, bilateral OBSOLETE: Mirror foot, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of toes, bilateral ORPHA:295185 SD1, Weidenreich type SD1a Syndactyly type 1, Weidenreich type Syndactyly type 1a Zygodactyly, Weidenreich type ICD-10:Q70.3 ICD-11:LB79.Y MeSH:C565223 OMIM:609815 UMLS:C1853294 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295187 Zygodactyly type 1 Clinical subtype ORPHA:295187 ICD-10:Q70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565223 E (Exact mapping: the two concepts are equivalent) OMIM:609815 E (Exact mapping: the two concepts are equivalent) UMLS:C1853294 E (Exact mapping: the two concepts are equivalent) SD1, Lueken type SD1b Syndactyly type 1, Lueken type Syndactyly type 1b Zygodactyly, Lueken type ICD-10:Q70.0 ICD-10:Q70.1 ICD-10:Q70.2 ICD-10:Q70.3 ICD-11:LB79.Y UMLS:C5679982 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295189 Zygodactyly type 2 Clinical subtype ORPHA:295189 ICD-10:Q70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679982 E (Exact mapping: the two concepts are equivalent) SD1, Montagu type SD1c Syndactyly type 1, Montagu type Syndactyly type 1c Zygodactyly, Montagu type ICD-10:Q70.0 ICD-10:Q70.1 ICD-10:Q70.2 ICD-10:Q70.3 ICD-11:LB79.Y UMLS:C5679983 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295191 Zygodactyly type 3 Clinical subtype ORPHA:295191 ICD-10:Q70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679983 E (Exact mapping: the two concepts are equivalent) SD1, Castilla type SD1d Syndactyly type 1, Castilla type Syndactyly type 1d Zygodactyly, Castilla type ICD-10:Q70.3 ICD-11:LB79.Y UMLS:C5679981 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295193 Zygodactyly type 4 Clinical subtype ORPHA:295193 ICD-10:Q70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679981 E (Exact mapping: the two concepts are equivalent) SD2, Vordingborg type SD2a SPD, Vordingborg type SPD1 Synpolydactyly, Vordingborg type ICD-10:Q70.0 ICD-10:Q70.2 ICD-11:LB79.Y OMIM:186000 UMLS:C5574994 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295195 Synpolydactyly type 1 Clinical subtype ORPHA:295195 ICD-10:Q70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:186000 E (Exact mapping: the two concepts are equivalent) UMLS:C5574994 E (Exact mapping: the two concepts are equivalent) SD2, Debeer type SD2b SPD, Debeer type SPD2 Synpolydactyly, Debeer type ICD-10:Q70.0 ICD-10:Q70.2 ICD-11:LB79.Y MeSH:C564278 OMIM:608180 UMLS:C1842422 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295197 Synpolydactyly type 2 Clinical subtype ORPHA:295197 ICD-10:Q70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564278 E (Exact mapping: the two concepts are equivalent) OMIM:608180 E (Exact mapping: the two concepts are equivalent) UMLS:C1842422 E (Exact mapping: the two concepts are equivalent) SD2, Malik type SD2c SPD, Malik type SPD3 Synpolydactyly, Malik type ICD-10:Q70.0 ICD-10:Q70.2 ICD-11:LB79.Y MeSH:C565216 OMIM:610234 UMLS:C1853255 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295199 Synpolydactyly type 3 Clinical subtype ORPHA:295199 ICD-10:Q70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565216 E (Exact mapping: the two concepts are equivalent) OMIM:610234 E (Exact mapping: the two concepts are equivalent) UMLS:C1853255 E (Exact mapping: the two concepts are equivalent) A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. Orphanet ICD-10:Q74.8 OMIM:201550 UMLS:C4304055 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2952 Adducted thumbs-arthrogryposis syndrome, Christian type ORPHA:2952 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:201550 E (Exact mapping: the two concepts are equivalent) UMLS:C4304055 E (Exact mapping: the two concepts are equivalent) ICD-10:Q66.8 ICD-11:LB98.4 OMIM:192950 UMLS:C5681089 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295201 Congenital vertical talus, unilateral Clinical subtype ORPHA:295201 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB98.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:192950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681089 E (Exact mapping: the two concepts are equivalent) ICD-10:Q66.8 ICD-11:LB98.4 OMIM:192950 UMLS:C1860446 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295203 Congenital vertical talus, bilateral Clinical subtype ORPHA:295203 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB98.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:192950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1860446 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Humero-radio-ulnar fusion, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radio-ulnar synostosis OBSOLETE: Humero-radio-ulnar synostosis, unilateral ORPHA:295205 OBSOLETE: Humero-radio-ulnar fusion, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radio-ulnar synostosis OBSOLETE: Humero-radio-ulnar synostosis, bilateral ORPHA:295207 OBSOLETE: Humero-radial fusion, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radial synostosis OBSOLETE: Humero-radial synostosis, unilateral ORPHA:295209 OBSOLETE: Humero-radial fusion, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radial synostosis OBSOLETE: Humero-radial synostosis, bilateral ORPHA:295211 OBSOLETE: Humero-ulnar fusion, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-ulnar synostosis OBSOLETE: Humero-ulnar synostosis, unilateral ORPHA:295213 OBSOLETE: Humero-ulnar fusion, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-ulnar synostosis OBSOLETE: Humero-ulnar synostosis, bilateral ORPHA:295215 OBSOLETE: Radio-ulnar fusion, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radio-ulnar synostosis OBSOLETE: Radio-ulnar synostosis, unilateral ORPHA:295217 OBSOLETE: Radio-ulnar fusion, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radio-ulnar synostosis OBSOLETE: Radio-ulnar synostosis, bilateral ORPHA:295219 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Léri-Weill dyschondrosteosis OBSOLETE: Madelung deformity, unilateral ORPHA:295221 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Léri-Weill dyschondrosteosis OBSOLETE: Madelung deformity, bilateral ORPHA:295223 ICD-10:Q68.8 ICD-11:LB92 UMLS:C5681091 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295225 Congenital elbow dislocation, unilateral Clinical subtype ORPHA:295225 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB92 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681091 E (Exact mapping: the two concepts are equivalent) ICD-10:Q68.8 ICD-11:LB92 UMLS:C5437776 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295227 Congenital elbow dislocation, bilateral Clinical subtype ORPHA:295227 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB92 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437776 E (Exact mapping: the two concepts are equivalent) A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen's syndrome). Orphanet ICD-10:Q68.2 ICD-11:LB93.0 UMLS:C0152235 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295229 Congenital genu recurvatum Clinical subtype ORPHA:295229 ICD-10:Q68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB93.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0152235 E (Exact mapping: the two concepts are equivalent) A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita). Orphanet ICD-10:Q68.2 ICD-11:LB93.1 UMLS:C5681090 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295232 Congenital genu flexum Clinical subtype ORPHA:295232 ICD-10:Q68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB93.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681090 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital patella dislocation OBSOLETE: Congenital patella dislocation, unilateral ORPHA:295234 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital patella dislocation OBSOLETE: Congenital patella dislocation, bilateral ORPHA:295237 Macrodactyly of hand, unilateral ICD-10:Q74.0 ICD-11:LB97.0 UMLS:C5679987 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295239 Macrodactyly of fingers, unilateral Clinical subtype ORPHA:295239 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB97.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679987 E (Exact mapping: the two concepts are equivalent) Macrodactyly of hand, bilateral ICD-10:Q74.0 ICD-11:LB97.0 UMLS:C5437813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295241 Macrodactyly of fingers, bilateral Clinical subtype ORPHA:295241 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB97.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437813 E (Exact mapping: the two concepts are equivalent) Macrodactyly of foot, unilateral ICD-10:Q74.2 ICD-11:LB97.1 UMLS:C5679988 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295243 Macrodactyly of toes, unilateral Clinical subtype ORPHA:295243 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB97.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679988 E (Exact mapping: the two concepts are equivalent) Macrodactyly of foot, bilateral ICD-10:Q74.2 ICD-11:LB97.1 UMLS:C5437810 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=295245 Macrodactyly of toes, bilateral Clinical subtype ORPHA:295245 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB97.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437810 E (Exact mapping: the two concepts are equivalent) 4q12 FLJ13621 ClinVar:CEP135 Ensembl:ENSG00000174799 Genatlas:CEP135 HGNC:29086 OMIM:611423 Reactome:Q66GS9 SwissProt:Q66GS9 CEP135 centrosomal protein 135 Adducted thumb-clubfoot syndrome Distal arthrogryposis with peculiar facies and hydronephrosis Dündar syndrome Ehlers-Danlos syndrome, Kosho type Musculocontractural EDS mcEDS A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:601776 OMIM:615539 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2953 Musculocontractural Ehlers-Danlos syndrome ORPHA:2953 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601776 E (Exact mapping: the two concepts are equivalent) OMIM:615539 BTNT (ORPHAcode is broader than the targeted code used to represent it) Brachydactyly-scoliosis-carpal fusion syndrome Prata-Liberal-Goncalves syndrome A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:Q87.5 MeSH:C538180 UMLS:C2931761 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2956 Acrodysplasia scoliosis ORPHA:2956 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538180 E (Exact mapping: the two concepts are equivalent) UMLS:C2931761 E (Exact mapping: the two concepts are equivalent) Preaxial deficiency-postaxial polydactyly-hypospadias syndrome Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Orphanet ICD-10:Q87.2 ICD-11:LD26.2 MeSH:C538278 OMIM:176305 UMLS:C1867801 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2957 Guttmacher syndrome ORPHA:2957 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538278 E (Exact mapping: the two concepts are equivalent) OMIM:176305 E (Exact mapping: the two concepts are equivalent) UMLS:C1867801 E (Exact mapping: the two concepts are equivalent) Prieto-Badia-Mulas syndrome An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:309610 UMLS:C4304934 X-linked recessive Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome ORPHA:2958 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:309610 E (Exact mapping: the two concepts are equivalent) UMLS:C4304934 E (Exact mapping: the two concepts are equivalent) Mulvihill-Smith syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation and short stature, microcephaly, premature aging, bird-like facies with lack of facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and variable intellectual disability. Immunodeficiency and development of tumors have also been described. Orphanet ICD-10:Q87.1 ICD-11:LD2B MeSH:C536422 OMIM:176690 UMLS:C1261128 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2959 Progeria-short stature-pigmented nevi syndrome ORPHA:2959 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536422 E (Exact mapping: the two concepts are equivalent) OMIM:176690 E (Exact mapping: the two concepts are equivalent) UMLS:C1261128 E (Exact mapping: the two concepts are equivalent) Enchondromatosis Spranger type I Multiple Enchondromatosis type I Multiple Enchondromatosis, Ollier type A rare primary bone dysplasia characterized by multiple enchondromas (benign cartilage-forming tumors). The lesions are generally unilateral or asymmetrically distributed. The most common affected site is the appendicular skeleton. Orphanet ICD-10:Q78.4 ICD-11:2E83.Z MeSH:D004687 MedDRA:10014642 OMIM:166000 UMLS:C0014084 Not applicable Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=296 Ollier disease ORPHA:296 ICD-10:Q78.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2E83.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004687 E (Exact mapping: the two concepts are equivalent) MedDRA:10014642 E (Exact mapping: the two concepts are equivalent) OMIM:166000 E (Exact mapping: the two concepts are equivalent) UMLS:C0014084 E (Exact mapping: the two concepts are equivalent) Cutis laxa-corneal clouding-intellectual disability syndrome Progeroid syndrome, De Barsy type De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Orphanet ICD-10:Q87.8 ICD-11:LD28.2 MeSH:C535990 MedDRA:10083947 OMIM:219150 OMIM:614438 UMLS:C0268354 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2962 De Barsy syndrome ORPHA:2962 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535990 E (Exact mapping: the two concepts are equivalent) MedDRA:10083947 E (Exact mapping: the two concepts are equivalent) OMIM:219150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614438 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268354 E (Exact mapping: the two concepts are equivalent) Fontaine progeroid syndrome Petty syndrome Petty-Laxova-Wiedemann syndrome Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. Orphanet ICD-10:E34.8 MeSH:C567360 OMIM:612289 UMLS:C2676780 Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2963 Progeroid syndrome, Petty type ORPHA:2963 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567360 E (Exact mapping: the two concepts are equivalent) OMIM:612289 E (Exact mapping: the two concepts are equivalent) UMLS:C2676780 E (Exact mapping: the two concepts are equivalent) A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported. Orphanet ICD-10:K07.1 ICD-11:DA0E.1 OMIM:176700 UMLS:C4755315 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2964 Autosomal dominant prognathism ORPHA:2964 ICD-10:K07.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA0E.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:176700 E (Exact mapping: the two concepts are equivalent) UMLS:C4755315 E (Exact mapping: the two concepts are equivalent) Lactotroph adenoma PRL-secreting pituitary adenoma PRLoma Pituitary lactotrophic adenoma Prolactin-secreting pituitary adenoma A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. Orphanet ICD-10:D35.2 ICD-11:2F37.Y ICD-11:XH1QS0 MeSH:D015175 MedDRA:10036832 UMLS:C0033375 Autosomal dominant Adolescent Adult Childhood Elderly Belgium AND has_point_prevalence_average_value : 62.0 AND has_point_prevalence_range : 6-9 / 10 000 Europe AND has_point_prevalence_average_value : 50.7 AND has_point_prevalence_range : 1-5 / 10 000 Malta AND has_annual_incidence_average_value : 2.05 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_average_value : 45.7 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 44.4 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2965 Prolactinoma ORPHA:2965 ICD-10:D35.2 - ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F37.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1QS0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015175 E (Exact mapping: the two concepts are equivalent) MedDRA:10036832 E (Exact mapping: the two concepts are equivalent) UMLS:C0033375 E (Exact mapping: the two concepts are equivalent) Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. Orphanet ICD-10:D84.1 ICD-11:4A00.1Y MeSH:C537241 OMIM:312060 UMLS:C0398762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2966 Properdin deficiency ORPHA:2966 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537241 E (Exact mapping: the two concepts are equivalent) OMIM:312060 E (Exact mapping: the two concepts are equivalent) UMLS:C0398762 E (Exact mapping: the two concepts are equivalent) 7q36.3 MRJ ClinVar:DNAJB6 Ensembl:ENSG00000105993 Genatlas:DNAJB6 HGNC:14888 OMIM:611332 Reactome:O75190 SwissProt:O75190 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 19q13.42 FLJ36139 FLJ40069 PCD pf22 ClinVar:DNAAF3 Ensembl:ENSG00000167646 Genatlas:DNAAF3 HGNC:30492 OMIM:614566 SwissProt:Q8N9W5 DNAAF3 dynein axonemal assembly factor 3 1q21.1 BOV-1A BOV-1B BOV-1C Y14 ZNRP binder of OVCA1 exon junction complex core component Y14 ClinVar:RBM8A Ensembl:ENSG00000265241 Genatlas:RBM8A HGNC:9905 OMIM:605313 Reactome:Q9Y5S9 SwissProt:Q9Y5S9 RBM8A RNA binding motif protein 8A Haptocorrin deficiency TCI deficiency Transcobalamin-1 deficiency A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic. Orphanet ICD-10:E53.8 ICD-11:5C63.0 MeSH:C562798 OMIM:193090 UMLS:C0342700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2967 Transcobalamin I deficiency ORPHA:2967 ICD-10:E53.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562798 E (Exact mapping: the two concepts are equivalent) OMIM:193090 E (Exact mapping: the two concepts are equivalent) UMLS:C0342700 E (Exact mapping: the two concepts are equivalent) LAD Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. Orphanet ICD-10:D84.8 ICD-11:4A00.0Y MeSH:D018370 OMIM:116920 OMIM:266265 OMIM:612840 UMLS:C5550999 Autosomal recessive Childhood Infancy Latin America AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 350.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2968 Leukocyte adhesion deficiency ORPHA:2968 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018370 E (Exact mapping: the two concepts are equivalent) OMIM:116920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:266265 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612840 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5550999 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:158350 UMLS:C1866398 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2969 Proteus-like syndrome ORPHA:2969 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:158350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1866398 E (Exact mapping: the two concepts are equivalent) TBE An infectious disease characterized by central nervous system (CNS) involvement caused by the TBE virus (TBEV) and transmitted to humans principally by the bite of ticks from the <i>Ixodes</i> genus. The symptomatology is often biphasic, with the initial phase being associated with a nonspecific febrile illness and the second phase with meningitis, meningoencephalitis or meningoencephalomyelitis. Orphanet ICD-10:A84.0 ICD-10:A84.1 ICD-10:A84.8 ICD-10:A84.9 ICD-11:1C80 MeSH:D004675 MedDRA:10043848 UMLS:C0014061 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=297 Tick-borne encephalitis ORPHA:297 ICD-10:A84.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A84.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A84.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A84.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004675 E (Exact mapping: the two concepts are equivalent) MedDRA:10043848 E (Exact mapping: the two concepts are equivalent) UMLS:C0014061 E (Exact mapping: the two concepts are equivalent) Abdominal muscle deficiency syndrome Eagle-Barret syndrome Obrinsky syndrome Triad syndrome A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males. Orphanet ICD-10:Q79.4 ICD-11:LD2F.10 MeSH:D011535 MedDRA:10051025 OMIM:100100 UMLS:C0033770 Autosomal dominant Not applicable X-linked recessive Antenatal Neonatal Canada AND has_birth_prevalence_average_value : 3.42 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2970 Prune belly syndrome ORPHA:2970 ICD-10:Q79.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011535 E (Exact mapping: the two concepts are equivalent) MedDRA:10051025 E (Exact mapping: the two concepts are equivalent) OMIM:100100 E (Exact mapping: the two concepts are equivalent) UMLS:C0033770 E (Exact mapping: the two concepts are equivalent) Pseudo-NALD Pseudo-neonatal adrenoleukodystrophy Pseudoadrenoleukodystrophy Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. Orphanet ICD-10:E71.3 ICD-11:5C57.1 MeSH:C536662 OMIM:264470 UMLS:C1849678 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2971 Peroxisomal acyl-CoA oxidase deficiency ORPHA:2971 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536662 E (Exact mapping: the two concepts are equivalent) OMIM:264470 E (Exact mapping: the two concepts are equivalent) UMLS:C1849678 E (Exact mapping: the two concepts are equivalent) Stoelinga-de Koomen-Davis syndrome Noneruption of teeth - maxillary hypoplasia - <i>genu valgum</i> is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe <i>genu valgum</i> and deformed ears. Orphanet ICD-10:K07.0 MeSH:C537496 OMIM:273050 UMLS:C2931509 No data available Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome ORPHA:2972 ICD-10:K07.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537496 E (Exact mapping: the two concepts are equivalent) OMIM:273050 E (Exact mapping: the two concepts are equivalent) UMLS:C2931509 E (Exact mapping: the two concepts are equivalent) 12p12.1 Kir6.1 ClinVar:KCNJ8 Ensembl:ENSG00000121361 Genatlas:KCNJ8 HGNC:6269 IUPHAR:441 OMIM:600935 Reactome:Q15842 SwissProt:Q15842 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 17q12 DNA repair protein RAD51 homolog 4 HsTRAD R51H3 Recombination repair protein Trad recombination repair protein ClinVar:RAD51D Ensembl:ENSG00000185379 Genatlas:RAD51D HGNC:9823 OMIM:602954 Reactome:O75771 SwissProt:O75771 RAD51D RAD51 paralog D 46,XX disorder of sex development-anorectal anomalies syndrome A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Orphanet ICD-10:Q56.2 ICD-11:LD2F.1Y UMLS:C4518078 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2973 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973 ICD-10:Q56.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4518078 E (Exact mapping: the two concepts are equivalent) 8q24.3 5-Opase OPLA ClinVar:OPLAH Ensembl:ENSG00000178814 Genatlas:OPLAH HGNC:8149 OMIM:614243 Reactome:O14841 SwissProt:O14841 OPLAH 5-oxoprolinase, ATP-hydrolysing 46,XX disorder of sex development-skeletal anomalies syndrome A rare difference of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Orphanet ICD-10:Q56.2 OMIM:264270 UMLS:C4518077 Unknown No data available Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2975 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975 ICD-10:Q56.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:264270 E (Exact mapping: the two concepts are equivalent) UMLS:C4518077 E (Exact mapping: the two concepts are equivalent) Patterson pseudoleprechaunism syndrome Patterson syndrome Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. Orphanet ICD-10:E34.8 MeSH:C536310 OMIM:169170 UMLS:C1868546 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2976 Pseudoleprechaunism syndrome, Patterson type ORPHA:2976 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536310 E (Exact mapping: the two concepts are equivalent) OMIM:169170 E (Exact mapping: the two concepts are equivalent) UMLS:C1868546 E (Exact mapping: the two concepts are equivalent) 10q22.1 ASC1p50 CGI-18 Em:AC022392.3 p50 ClinVar:ASCC1 Ensembl:ENSG00000138303 Genatlas:ASCC1 HGNC:24268 OMIM:614215 Reactome:Q8N9N2 SwissProt:Q8N9N2 ASCC1 activating signal cointegrator 1 complex subunit 1 8p22 CD204 SCARA1 SR-A SR-AI SR-AII SR-AIII ClinVar:MSR1 Ensembl:ENSG00000038945 Genatlas:MSR1 HGNC:7376 OMIM:153622 Reactome:P21757 SwissProt:P21757 MSR1 macrophage scavenger receptor 1 CIPO A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut. Orphanet ICD-10:K59.8 ICD-11:DA90.2 OMIM:243180 OMIM:300048 OMIM:601223 OMIM:609629 UMLS:C0238062 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2978 Chronic intestinal pseudoobstruction ORPHA:2978 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:243180 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300048 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601223 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609629 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0238062 E (Exact mapping: the two concepts are equivalent) MNGIE Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Orphanet ICD-10:G71.3 ICD-11:5C53.20 MedDRA:10065271 OMIM:603041 OMIM:612075 OMIM:613662 OMIM:619780 UMLS:C0872218 Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=298 Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065271 E (Exact mapping: the two concepts are equivalent) OMIM:603041 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:612075 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613662 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:619780 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0872218 E (Exact mapping: the two concepts are equivalent) Pseudopapilledema-blepharophimosis-hand anomalies syndrome A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. Orphanet ICD-10:Q87.0 MeSH:C564866 OMIM:264475 UMLS:C1849661 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2980 Acrootoocular syndrome ORPHA:2980 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564866 E (Exact mapping: the two concepts are equivalent) OMIM:264475 E (Exact mapping: the two concepts are equivalent) UMLS:C1849661 E (Exact mapping: the two concepts are equivalent) Thiolase deficiency This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bifunctional enzyme deficiency MeSH:C535818 UMLS:C1533628 Pseudo-Zellweger syndrome ORPHA:2981 MeSH:C535818 E (Exact mapping: the two concepts are equivalent) UMLS:C1533628 E (Exact mapping: the two concepts are equivalent) 46,XX DSD 46,XX disorder of sex development MeSH:D058489 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2982 46,XX difference of sex development Category ORPHA:2982 MeSH:D058489 E (Exact mapping: the two concepts are equivalent) Episodic spontaneous hypothermia Shapiro syndrome A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions. Orphanet ICD-10:G90.8 ICD-11:8D80 MeSH:C537594 UMLS:C2931542 Unknown All ages Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=29822 Spontaneous periodic hypothermia ORPHA:29822 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537594 E (Exact mapping: the two concepts are equivalent) UMLS:C2931542 E (Exact mapping: the two concepts are equivalent) Disorder of sex development-intellectual disability syndrome Verloes-Gillerot-Fryns syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q56.3 MeSH:C536539 OMIM:600122 UMLS:C2931233 Unknown Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2983 Difference of sex development-intellectual disability syndrome ORPHA:2983 ICD-10:Q56.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536539 E (Exact mapping: the two concepts are equivalent) OMIM:600122 E (Exact mapping: the two concepts are equivalent) UMLS:C2931233 E (Exact mapping: the two concepts are equivalent) Absent eyebrows and eyelashes-intellectual disability syndrome Hal-Berg-Rudolph syndrome A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q87.8 MeSH:C563111 OMIM:200130 UMLS:C0796125 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2985 Pseudoprogeria syndrome ORPHA:2985 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563111 E (Exact mapping: the two concepts are equivalent) OMIM:200130 E (Exact mapping: the two concepts are equivalent) UMLS:C0796125 E (Exact mapping: the two concepts are equivalent) 10q21.3 Math5 bHLHa13 ClinVar:ATOH7 Ensembl:ENSG00000179774 Genatlas:ATOH7 HGNC:13907 OMIM:609875 SwissProt:Q8N100 ATOH7 atonal bHLH transcription factor 7 UMLS:C5681092 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=298644 Disorder of thiamine metabolism and transport Category ORPHA:298644 UMLS:C5681092 E (Exact mapping: the two concepts are equivalent) A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation. Orphanet ICD-10:Q87.2 MeSH:C566738 OMIM:178200 UMLS:C1867439 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2987 Antecubital pterygium syndrome ORPHA:2987 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566738 E (Exact mapping: the two concepts are equivalent) OMIM:178200 E (Exact mapping: the two concepts are equivalent) UMLS:C1867439 E (Exact mapping: the two concepts are equivalent) 11q13.4 SLC25A8 ClinVar:UCP2 Ensembl:ENSG00000175567 Genatlas:UCP2 HGNC:12518 IUPHAR:1067 OMIM:601693 Reactome:P55851 SwissProt:P55851 UCP2 uncoupling protein 2 Khalifa-Graham syndrome A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. Orphanet ICD-10:Q87.0 MeSH:C535831 OMIM:600159 UMLS:C1838562 Autosomal dominant X-linked dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2988 Pterygium colli-intellectual disability-digital anomalies syndrome ORPHA:2988 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535831 E (Exact mapping: the two concepts are equivalent) OMIM:600159 E (Exact mapping: the two concepts are equivalent) UMLS:C1838562 E (Exact mapping: the two concepts are equivalent) A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. Orphanet ICD-10:H11.0 OMIM:178000 UMLS:C4274782 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2989 Familial pterygium of the conjunctiva ORPHA:2989 ICD-10:H11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:178000 E (Exact mapping: the two concepts are equivalent) UMLS:C4274782 E (Exact mapping: the two concepts are equivalent) Autosomal recessive non-lethal multiple pterygium syndrome EVMPS Escobar syndrome Escobar variant multiple pterygium syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome. Orphanet ICD-10:Q79.8 ICD-11:LD26.40 OMIM:265000 OMIM:618469 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 64.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2990 Autosomal recessive multiple pterygium syndrome ORPHA:2990 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:265000 E (Exact mapping: the two concepts are equivalent) OMIM:618469 NTBT (ORPHAcode is narrower than the targeted code used to represent it) 1q43 Acetylcholine receptor, muscarinic 3 acetylcholine receptor, muscarinic 3 m3AChR ClinVar:CHRM3 Ensembl:ENSG00000133019 Genatlas:CHRM3 HGNC:1952 IUPHAR:15 OMIM:118494 Reactome:P20309 SwissProt:P20309 CHRM3 cholinergic receptor muscarinic 3 2q34 ClinVar:IDH1 Ensembl:ENSG00000138413 Genatlas:IDH1 HGNC:5382 IUPHAR:2884 OMIM:147700 Reactome:O75874 SwissProt:O75874 IDH1 isocitrate dehydrogenase (NADP(+)) 1 6q22.1 DNA-binding protein RFX6 MGC33442 dJ955L16.1 ClinVar:RFX6 Ensembl:ENSG00000185002 Genatlas:RFX6 HGNC:21478 OMIM:612659 Reactome:Q8HWS3 SwissProt:Q8HWS3 RFX6 regulatory factor X6 2p13.2 P450RAI-2 ClinVar:CYP26B1 Ensembl:ENSG00000003137 Genatlas:CYP26B1 HGNC:20581 IUPHAR:1367 OMIM:605207 Reactome:Q9NR63 SwissProt:Q9NR63 CYP26B1 cytochrome P450 family 26 subfamily B member 1 15q25.1 hsa-mir-184 ClinVar:MIR184 Ensembl:ENSG00000207695 Genatlas:MIR184 HGNC:31555 OMIM:613146 MIR184 microRNA 184 7q35 HTPK1 PP20 Placental protein 20 Thiamine diphosphokinase Thiamine kinase Thiamine pyrophosphokinase 1 placental protein 20 thiamine diphosphokinase thiamine kinase thiamine pyrophosphokinase 1 ClinVar:TPK1 Ensembl:ENSG00000196511 Genatlas:TPK1 HGNC:17358 OMIM:606370 Reactome:Q9H3S4 SwissProt:Q9H3S4 TPK1 thiamin pyrophosphokinase 1 Haspeslagh-Fryns-Muelenaere syndrome A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Orphanet ICD-10:Q87.8 MeSH:C535844 OMIM:177980 UMLS:C1867443 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome ORPHA:2994 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535844 E (Exact mapping: the two concepts are equivalent) OMIM:177980 E (Exact mapping: the two concepts are equivalent) UMLS:C1867443 E (Exact mapping: the two concepts are equivalent) 2p25.1 CD156B TNF-alpha convertase enzyme a disintegrin and metalloproteinase 17 cSVP cartilage snake venom-like protease ClinVar:ADAM17 Ensembl:ENSG00000151694 Genatlas:ADAM17 HGNC:195 IUPHAR:1662 OMIM:603639 Reactome:P78536 SwissProt:P78536 ADAM17 ADAM metallopeptidase domain 17 Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients. Orphanet ICD-10:Q87.0 OMIM:243310 OMIM:614583 UMLS:C5680770 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2995 Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:243310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614583 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680770 E (Exact mapping: the two concepts are equivalent) 5p13.2 FLJ13231 Heart Under Glass Hug JBTS17 ClinVar:C5orf42 Ensembl:ENSG00000197603 Genatlas:C5orf42 HGNC:25801 OMIM:614571 SwissProt:Q9H799 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 16p13.3 FLJ22386 RAV2 ROGD1 ClinVar:ROGDI Ensembl:ENSG00000067836 Genatlas:ROGDI HGNC:29478 OMIM:614574 SwissProt:Q9GZN7 ROGDI rogdi atypical leucine zipper 9p21.3 MSAP S-methyl-5'-thioadenosine phosphorylase c86fus ClinVar:MTAP Ensembl:ENSG00000099810 Genatlas:MTAP HGNC:7413 OMIM:156540 Reactome:Q13126 SwissProt:Q13126 MTAP methylthioadenosine phosphorylase 5q11.2-q12.1 cAMP-specific 3',5'-cyclic phosphodiesterase 4D phosphodiesterase E3 dunce homolog (Drosophila) ClinVar:PDE4D Ensembl:ENSG00000113448 Genatlas:PDE4D HGNC:8783 IUPHAR:1303 OMIM:600129 Reactome:Q08499 SwissProt:Q08499 PDE4D phosphodiesterase 4D 17p11.2 N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase N-acetylglucosaminylphosphatidylinositol deacetylase PIG-L ClinVar:PIGL Ensembl:ENSG00000108474 Genatlas:PIGL HGNC:8966 OMIM:605947 Reactome:Q9Y2B2 SwissProt:Q9Y2B2 PIGL phosphatidylinositol glycan anchor biosynthesis class L 6p21.33 170A DDX13 HLP SKI2 SKI2W SKIV2L1 ClinVar:SKIV2L Ensembl:ENSG00000204351 Genatlas:SKIV2L HGNC:10898 OMIM:600478 Reactome:Q15477 SwissProt:Q15477 SKIC2 SKI2 subunit of superkiller complex 7q36.1 DNA repair protein XRCC2 FANCU RAD51-like ClinVar:XRCC2 Ensembl:ENSG00000196584 Genatlas:XRCC2 HGNC:12829 OMIM:600375 Reactome:O43543 SwissProt:O43543 XRCC2 X-ray repair cross complementing 2 7p15.2 ClinVar:SNX10 Ensembl:ENSG00000086300 Genatlas:SNX10 HGNC:14974 OMIM:614780 Reactome:Q9Y5X0 SwissProt:Q9Y5X0 SNX10 sorting nexin 10 15q22.31 FMT1 ClinVar:MTFMT Ensembl:ENSG00000103707 Genatlas:MTFMT HGNC:29666 OMIM:611766 Reactome:Q96DP5 SwissProt:Q96DP5 MTFMT mitochondrial methionyl-tRNA formyltransferase 1q43-q44 PKBG PRKBG RAC-gamma protein kinase B, gamma ClinVar:AKT3 Ensembl:ENSG00000117020 Genatlas:AKT3 HGNC:393 IUPHAR:2286 OMIM:611223 Reactome:Q9Y243 SwissProt:Q9Y243 AKT3 AKT serine/threonine kinase 3 Tucker syndrome Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:J38.0 MeSH:C536923 OMIM:193240 UMLS:C1860403 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2997 Ptosis-vocal cord paralysis syndrome ORPHA:2997 ICD-10:J38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536923 E (Exact mapping: the two concepts are equivalent) OMIM:193240 E (Exact mapping: the two concepts are equivalent) UMLS:C1860403 E (Exact mapping: the two concepts are equivalent) 3MC2 syndrome Carnevale-Krajewska-Fischetto syndrome Mingarelli syndrome OSA syndrome Oculo-skeletal-abdominal syndrome Ptosis-strabismus-rectus abdominis diastasis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3MC syndrome OMIM:265050 UMLS:C0796279 Carnevale syndrome ORPHA:2998 OMIM:265050 E (Exact mapping: the two concepts are equivalent) UMLS:C0796279 E (Exact mapping: the two concepts are equivalent) McPherson-Hall syndrome A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. Orphanet ICD-10:Q10.0 OMIM:178330 UMLS:C4511968 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2999 Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999 ICD-10:Q10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:178330 E (Exact mapping: the two concepts are equivalent) UMLS:C4511968 E (Exact mapping: the two concepts are equivalent) Orotidylic decarboxylase deficiency Uridine monophosphate synthetase deficiency A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported. Orphanet ICD-10:E79.8 ICD-11:3A03.0 MeSH:C537136 MedDRA:10052621 OMIM:258900 UMLS:C0220987 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=30 Hereditary orotic aciduria ORPHA:30 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:3A03.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537136 E (Exact mapping: the two concepts are equivalent) MedDRA:10052621 E (Exact mapping: the two concepts are equivalent) OMIM:258900 E (Exact mapping: the two concepts are equivalent) UMLS:C0220987 E (Exact mapping: the two concepts are equivalent) A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others. Orphanet ICD-10:E71.3 ICD-11:5C57.1 OMIM:261515 UMLS:C0342870 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300 Bifunctional enzyme deficiency ORPHA:300 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:261515 E (Exact mapping: the two concepts are equivalent) UMLS:C0342870 E (Exact mapping: the two concepts are equivalent) FMPP Familial gonadotropin-independent male-limited sexual precocity Male-limited precocious puberty Testotoxicosis Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Orphanet ICD-10:E30.1 ICD-11:5A81.0 MeSH:C536961 MedDRA:10063654 OMIM:176410 UMLS:C0342549 Autosomal dominant Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3000 Familial peripheral male-limited precocious puberty ORPHA:3000 ICD-10:E30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536961 E (Exact mapping: the two concepts are equivalent) MedDRA:10063654 E (Exact mapping: the two concepts are equivalent) OMIM:176410 E (Exact mapping: the two concepts are equivalent) UMLS:C0342549 E (Exact mapping: the two concepts are equivalent) Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss FKBP14-related EDS FKBP22-deficient EDS Kyphoscoliotic EDS due to FKBP22 deficiency kEDS-FKBP14 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:614557 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency Clinical subtype ORPHA:300179 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614557 E (Exact mapping: the two concepts are equivalent) ITP Immune thrombocytopenic purpura A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. Orphanet ICD-10:D69.3 ICD-11:3B64.10 MeSH:D016553 MedDRA:10083842 OMIM:188030 UMLS:C0398650 Not applicable All ages Denmark AND has_annual_incidence_average_value : 2.68 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 6.75 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 2.9 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 9.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3002 Immune thrombocytopenia ORPHA:3002 ICD-10:D69.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016553 E (Exact mapping: the two concepts are equivalent) MedDRA:10083842 E (Exact mapping: the two concepts are equivalent) OMIM:188030 E (Exact mapping: the two concepts are equivalent) UMLS:C0398650 E (Exact mapping: the two concepts are equivalent) 17p13.1 P101-PI3K p101 ClinVar:PIK3R5 Ensembl:ENSG00000141506 Genatlas:PIK3R5 HGNC:30035 IUPHAR:2506 OMIM:611317 Reactome:Q8WYR1 SwissProt:Q8WYR1 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 7q21.11 alpha2delta-1 lncRNA-N3 ClinVar:CACNA2D1 Ensembl:ENSG00000153956 Genatlas:CACNA2D1 HGNC:1399 OMIM:114204 Reactome:P54289 SwissProt:P54289 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 Bone fragility-contractures-arterial rupture-deafness syndrome Bone fragility-contractures-arterial rupture-hearing loss syndrome Connective tissue disorder due to LH3 deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. Orphanet ICD-10:M35.8 OMIM:612394 UMLS:C4706393 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency ORPHA:300284 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612394 E (Exact mapping: the two concepts are equivalent) UMLS:C4706393 E (Exact mapping: the two concepts are equivalent) Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Orphanet ICD-10:K76.0 OMIM:614480 OMIM:619324 UMLS:C4751115 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300293 Transient infantile hypertriglyceridemia and hepatosteatosis ORPHA:300293 ICD-10:K76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614480 E (Exact mapping: the two concepts are equivalent) OMIM:619324 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751115 E (Exact mapping: the two concepts are equivalent) Severe congenital hypochromic sideroblastic anemia STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels. Orphanet ICD-10:D64.0 ICD-11:3A72.00 OMIM:615234 UMLS:C4511137 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300298 Severe congenital hypochromic anemia with ringed sideroblasts ORPHA:300298 ICD-10:D64.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615234 E (Exact mapping: the two concepts are equivalent) UMLS:C4511137 E (Exact mapping: the two concepts are equivalent) Camera syndrome A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Orphanet ICD-10:Q78.8 ICD-11:FB82.Y MeSH:C536251 OMIM:265880 UMLS:C1849523 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3003 Pyknoachondrogenesis ORPHA:3003 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536251 E (Exact mapping: the two concepts are equivalent) OMIM:265880 E (Exact mapping: the two concepts are equivalent) UMLS:C1849523 E (Exact mapping: the two concepts are equivalent) Dup(11)p(15.4) Trisomy 11p15.4 A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Orphanet ICD-10:Q92.3 ICD-11:LD41.A UMLS:C4749508 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300305 11p15.4 microduplication syndrome ORPHA:300305 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749508 E (Exact mapping: the two concepts are equivalent) Congenital cataract-deafness-severe developmental delay syndrome Huppke-Brendel syndrome Lethal neurodegenerative disorder due to copper transport defect Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. Orphanet ICD-10:E88.8 OMIM:614482 UMLS:C4751114 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300313 Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614482 E (Exact mapping: the two concepts are equivalent) UMLS:C4751114 E (Exact mapping: the two concepts are equivalent) CMT2P Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. Orphanet ICD-10:G60.0 OMIM:614436 UMLS:C3280797 Autosomal dominant Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300319 Charcot-Marie-Tooth disease type 2P ORPHA:300319 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614436 E (Exact mapping: the two concepts are equivalent) UMLS:C3280797 E (Exact mapping: the two concepts are equivalent) PPBL Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. Orphanet ICD-10:D72.8 MeSH:C564707 OMIM:606445 UMLS:C1847973 Multigenic/multifactorial No data available Worldwide AND has_cases/families_value : 154.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300324 Persistent polyclonal B-cell lymphocytosis ORPHA:300324 ICD-10:D72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564707 E (Exact mapping: the two concepts are equivalent) OMIM:606445 E (Exact mapping: the two concepts are equivalent) UMLS:C1847973 E (Exact mapping: the two concepts are equivalent) EBS with nephropathy Epidermolysis bullosa simplex with nephropathy Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. Orphanet ICD-10:N08.2 OMIM:609057 UMLS:C5679989 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333 ICD-10:N08.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609057 E (Exact mapping: the two concepts are equivalent) UMLS:C5679989 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Persistent hyperplastic primary vitreous OBSOLETE: Congenital blindness due to retinal non-attachment ORPHA:300337 Autosomal SLE Familial SLE Familial systemic lupus erythematosus A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others. Orphanet ICD-10:M32.8 OMIM:614420 UMLS:C4750787 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300345 Autosomal systemic lupus erythematosus ORPHA:300345 ICD-10:M32.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614420 E (Exact mapping: the two concepts are equivalent) UMLS:C4750787 E (Exact mapping: the two concepts are equivalent) FACU Familial atypical cold urticaria Familial cold urticaria with common variable immunodeficiency PLAID A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Orphanet ICD-10:L50.2 OMIM:614468 UMLS:C4722480 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300359 PLCG2-associated antibody deficiency and immune dysregulation ORPHA:300359 ICD-10:L50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614468 E (Exact mapping: the two concepts are equivalent) UMLS:C4722480 E (Exact mapping: the two concepts are equivalent) Familial infantile gigantism Hereditary infantile gigantism Hereditary pituitary hyperplasia Infantile gigantism due to pituitary hyperplasia X-LAG A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans. Orphanet ICD-10:E22.0 OMIM:300942 UMLS:C4751112 X-linked dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300373 X-linked acrogigantism ORPHA:300373 ICD-10:E22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300942 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751112 E (Exact mapping: the two concepts are equivalent) A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. Orphanet ICD-10:E88.1 OMIM:616914 UMLS:C4751111 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300382 Progeroid and marfanoid aspect-lipodystrophy syndrome ORPHA:300382 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616914 E (Exact mapping: the two concepts are equivalent) UMLS:C4751111 E (Exact mapping: the two concepts are equivalent) A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor. Orphanet ICD-10:C75.1 UMLS:C0346300 Unknown All ages Austria AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.87 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.213 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.099 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.171 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300385 Pituitary carcinoma ORPHA:300385 ICD-10:C75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0346300 E (Exact mapping: the two concepts are equivalent) A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. Orphanet ICD-10:Q87.2 ICD-11:LD26.2 UMLS:C4275100 Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome ORPHA:3004 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275100 E (Exact mapping: the two concepts are equivalent) A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders. Orphanet ICD-10:M89.8 ICD-11:GB90.4Y UMLS:C5681093 Multigenic/multifactorial All ages Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300493 Sagliker syndrome ORPHA:300493 ICD-10:M89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681093 E (Exact mapping: the two concepts are equivalent) MCAHS type 2 A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Orphanet ICD-10:Q87.8 OMIM:300868 UMLS:C4751110 X-linked recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300868 E (Exact mapping: the two concepts are equivalent) UMLS:C4751110 E (Exact mapping: the two concepts are equivalent) Metaphyseal dysplasia, Pyle type SFRP4-related Pyle disease A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs. Orphanet ICD-10:Q78.5 ICD-11:LD24.1Y MeSH:C536252 OMIM:265900 UMLS:C0265294 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3005 Pyle disease ORPHA:3005 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536252 E (Exact mapping: the two concepts are equivalent) OMIM:265900 E (Exact mapping: the two concepts are equivalent) UMLS:C0265294 E (Exact mapping: the two concepts are equivalent) Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone. Orphanet ICD-10:D36.1 UMLS:C4751109 Unknown Adolescent Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome ORPHA:300501 ICD-10:D36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751109 E (Exact mapping: the two concepts are equivalent) Acanthoma of the nail matrix A rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells. Orphanet ICD-10:D23.9 UMLS:C4751108 Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300504 Onychocytic matricoma ORPHA:300504 ICD-10:D23.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751108 E (Exact mapping: the two concepts are equivalent) Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported. Orphanet ICD-10:D23.9 UMLS:C4751078 Unknown All ages Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300512 Onychomatricoma ORPHA:300512 ICD-10:D23.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751078 E (Exact mapping: the two concepts are equivalent) UMLS:C5681082 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300515 Rare nail tumor Category ORPHA:300515 UMLS:C5681082 E (Exact mapping: the two concepts are equivalent) PHA2D ICD-10:I15.1 ICD-11:BA04.Y OMIM:614495 UMLS:C3469605 Autosomal dominant Autosomal recessive Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300525 Pseudohypoaldosteronism type 2D Etiological subtype ORPHA:300525 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614495 E (Exact mapping: the two concepts are equivalent) UMLS:C3469605 E (Exact mapping: the two concepts are equivalent) PHA2E ICD-10:I15.1 ICD-11:BA04.Y OMIM:614496 UMLS:C3469606 Autosomal dominant Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300530 Pseudohypoaldosteronism type 2E Etiological subtype ORPHA:300530 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614496 E (Exact mapping: the two concepts are equivalent) UMLS:C3469606 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ir CDG-Ir CDG1R Carbohydrate deficient glycoprotein syndrome type Ir Congenital disorder of glycosylation type 1r Congenital disorder of glycosylation type Ir DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene <i> DDOST </i> (1p36.1). Orphanet ICD-10:E77.8 OMIM:614507 UMLS:C3281084 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300536 DDOST-CDG ORPHA:300536 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614507 E (Exact mapping: the two concepts are equivalent) UMLS:C3281084 E (Exact mapping: the two concepts are equivalent) Familial infantile hypercalcemia with suppressed intact parathyroid hormone A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria. Orphanet ICD-10:E83.5 OMIM:143880 OMIM:616963 UMLS:C4329374 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300547 Autosomal recessive infantile hypercalcemia ORPHA:300547 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:143880 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616963 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4329374 E (Exact mapping: the two concepts are equivalent) Follicular pancreatocholangitis Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts. Orphanet ICD-10:K83.0 ICD-10:K86.1 UMLS:C4749906 Unknown Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300552 Follicular cholangitis and pancreatitis ORPHA:300552 ICD-10:K83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:K86.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749906 E (Exact mapping: the two concepts are equivalent) Ampullary carcinoma Ampulloma Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas. Orphanet ICD-10:C24.1 ICD-11:2C16 MedDRA:10048853 UMLS:C0262401 Not applicable Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.59 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.57 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300557 Carcinoma of the ampulla of Vater ORPHA:300557 ICD-10:C24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C16 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10048853 E (Exact mapping: the two concepts are equivalent) UMLS:C0262401 E (Exact mapping: the two concepts are equivalent) CPFE A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury. Orphanet ICD-10:J84.1 ICD-11:CB03.1 MedDRA:10076515 UMLS:C3872815 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300564 Combined pulmonary fibrosis-emphysema syndrome ORPHA:300564 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB03.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10076515 E (Exact mapping: the two concepts are equivalent) UMLS:C3872815 E (Exact mapping: the two concepts are equivalent) A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Orphanet ICD-10:Q04.3 OMIM:614039 UMLS:C5191309 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614039 E (Exact mapping: the two concepts are equivalent) UMLS:C5191309 E (Exact mapping: the two concepts are equivalent) A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy). Orphanet ICD-10:Q04.3 OMIM:610031 UMLS:C5681081 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300573 Polymicrogyria due to TUBB2B mutation ORPHA:300573 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610031 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681081 E (Exact mapping: the two concepts are equivalent) Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. Orphanet ICD-10:C19 ICD-11:LD27.0Y OMIM:608615 UMLS:C4750788 Autosomal dominant No data available Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300576 Oligodontia-cancer predisposition syndrome ORPHA:300576 ICD-10:C19 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608615 E (Exact mapping: the two concepts are equivalent) UMLS:C4750788 E (Exact mapping: the two concepts are equivalent) MedDRA:10041932 UMLS:C0854511 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300579 Staphylococcal toxemia Category ORPHA:300579 MedDRA:10041932 E (Exact mapping: the two concepts are equivalent) UMLS:C0854511 E (Exact mapping: the two concepts are equivalent) Antiquitin deficiency Vitamin B6-dependent seizures A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). Orphanet ICD-10:G40.8 ICD-11:8A61.0Y MeSH:C536254 OMIM:266100 OMIM:617290 UMLS:C1849508 Autosomal recessive Antenatal Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3006 Pyridoxine-dependent epilepsy ORPHA:3006 ICD-10:G40.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536254 E (Exact mapping: the two concepts are equivalent) OMIM:266100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617290 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1849508 E (Exact mapping: the two concepts are equivalent) JALS Juvenile Charcot disease Juvenile Lou Gehrig disease Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Orphanet ICD-10:G12.2 OMIM:205100 OMIM:602099 OMIM:614373 UMLS:C3468114 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300605 Juvenile amyotrophic lateral sclerosis ORPHA:300605 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:205100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602099 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614373 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3468114 E (Exact mapping: the two concepts are equivalent) A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy. Orphanet ICD-10:I42.0 OMIM:115200 UMLS:C4707865 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ORPHA:300751 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:115200 E (Exact mapping: the two concepts are equivalent) UMLS:C4707865 E (Exact mapping: the two concepts are equivalent) UMLS:C5681083 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300755 Laminopathy with striated muscle involvement Category ORPHA:300755 UMLS:C5681083 E (Exact mapping: the two concepts are equivalent) UMLS:C5681085 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300758 Laminopathy with peripheral neuropathy Category ORPHA:300758 UMLS:C5681085 E (Exact mapping: the two concepts are equivalent) UMLS:C5681084 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300763 Laminopathy with lipodystrophy Category ORPHA:300763 UMLS:C5681084 E (Exact mapping: the two concepts are equivalent) UMLS:C5567864 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300766 Laminopathy with premature aging Category ORPHA:300766 UMLS:C5567864 E (Exact mapping: the two concepts are equivalent) Ataxia with lactic acidosis type 2 Ataxia with lactic acidosis type II Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency Leigh syndrome due to PC deficiency Leigh syndrome due to pyruvate carboxylase deficiency Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. Orphanet ICD-10:E74.4 ICD-11:5C53.03 MeSH:D015324 MedDRA:10077944 OMIM:266150 UMLS:C0034341 Autosomal recessive Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3008 Pyruvate carboxylase deficiency ORPHA:3008 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C53.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015324 E (Exact mapping: the two concepts are equivalent) MedDRA:10077944 E (Exact mapping: the two concepts are equivalent) OMIM:266150 E (Exact mapping: the two concepts are equivalent) UMLS:C0034341 E (Exact mapping: the two concepts are equivalent) Indolent B-cell NHL UMLS:C5419078 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300842 Indolent B-cell non-Hodgkin lymphoma Category ORPHA:300842 UMLS:C5419078 E (Exact mapping: the two concepts are equivalent) Aggressive B-cell NHL UMLS:C5555120 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300846 Aggressive B-cell non-Hodgkin lymphoma Category ORPHA:300846 UMLS:C5555120 E (Exact mapping: the two concepts are equivalent) DLBCL of the CNS ICD-10:C83.3 ICD-11:2A81.5 UMLS:C2026186 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300849 Diffuse large B-cell lymphoma of the central nervous system ORPHA:300849 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A81.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2026186 E (Exact mapping: the two concepts are equivalent) THRLBCL T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course. Orphanet ICD-10:C83.3 ICD-11:2A81.4 ICD-11:XH0WP6 UMLS:C1321547 Multigenic/multifactorial Not applicable Adolescent Adult Childhood Elderly United States AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300857 T-cell/histiocyte rich large B cell lymphoma ORPHA:300857 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A81.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH0WP6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1321547 E (Exact mapping: the two concepts are equivalent) Primary C-ALCL Regressive atypical histiocytosis Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features. Orphanet ICD-10:C86.6 ICD-11:2B03.0 MeSH:D054446 MedDRA:10065863 UMLS:C1301362 Adolescent Adult Childhood Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300865 Primary cutaneous anaplastic large cell lymphoma ORPHA:300865 ICD-10:C86.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2B03.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054446 E (Exact mapping: the two concepts are equivalent) MedDRA:10065863 E (Exact mapping: the two concepts are equivalent) UMLS:C1301362 E (Exact mapping: the two concepts are equivalent) SDRPL Splenic diffuse red pulp lymphoma Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism. Orphanet ICD-10:C83.0 ICD-11:2A82.Y ICD-11:XH99V9 UMLS:C2699508 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300869 Splenic diffuse red pulp small B-cell lymphoma ORPHA:300869 ICD-10:C83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A82.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH99V9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2699508 E (Exact mapping: the two concepts are equivalent) HCL-v Leukemic reticuloendotheliosis variant Prolymphocytic variant of HCL Prolymphocytic variant of hairy cell leukemia A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia. Orphanet ICD-10:C91.4 ICD-11:2A82.3 MedDRA:10019054 UMLS:C0349633 Unknown Adult Elderly United States AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300878 Hairy cell leukemia variant ORPHA:300878 ICD-10:C91.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10019054 E (Exact mapping: the two concepts are equivalent) UMLS:C0349633 E (Exact mapping: the two concepts are equivalent) DLBCL with chronic inflammation Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. Orphanet ICD-10:C83.3 UMLS:C4511460 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300888 Diffuse large B-cell lymphoma with chronic inflammation ORPHA:300888 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4511460 E (Exact mapping: the two concepts are equivalent) ALK+ ALCL ALK+ anaplastic large cell lymphoma A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK). Orphanet ICD-10:C84.6 ICD-11:2A90.A ICD-11:XH9484 UMLS:C1332079 Not applicable Adolescent Adult Childhood Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300895 ALK-positive anaplastic large cell lymphoma Histopathological subtype ORPHA:300895 ICD-10:C84.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH9484 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1332079 E (Exact mapping: the two concepts are equivalent) ALK- ALCL ALK- anaplastic large cell lymphoma A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK). Orphanet ICD-10:C84.7 ICD-11:2A90.B ICD-11:XH9T74 UMLS:C1332078 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300903 ALK-negative anaplastic large cell lymphoma Histopathological subtype ORPHA:300903 ICD-10:C84.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH9T74 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1332078 E (Exact mapping: the two concepts are equivalent) MeSH:D018442 UMLS:C0242647 Adult Europe AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=300912 Marginal zone lymphoma Clinical group ORPHA:300912 MeSH:D018442 E (Exact mapping: the two concepts are equivalent) UMLS:C0242647 E (Exact mapping: the two concepts are equivalent) A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors). Orphanet OMIM:137800 UMLS:C1333407 All ages Europe AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 3.85 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.43 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=301 Ependymal tumor Clinical group ORPHA:301 OMIM:137800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1333407 E (Exact mapping: the two concepts are equivalent) Dysharmonic skeletal maturation-muscular fiber disproportion syndrome A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q87.8 MeSH:C536259 OMIM:600096 UMLS:C2931142 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3010 Qazi-Markouizos syndrome ORPHA:3010 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536259 E (Exact mapping: the two concepts are equivalent) OMIM:600096 E (Exact mapping: the two concepts are equivalent) UMLS:C2931142 E (Exact mapping: the two concepts are equivalent) Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976. Orphanet ICD-10:G82.4 OMIM:270950 UMLS:C4509974 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ORPHA:3011 ICD-10:G82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:270950 E (Exact mapping: the two concepts are equivalent) UMLS:C4509974 E (Exact mapping: the two concepts are equivalent) Marashi-Gorlin syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculofaciocardiodental syndrome Radiculomegaly of canine teeth- congenital cataract ORPHA:3013 Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q87.8 MeSH:C536267 OMIM:179280 UMLS:C2931146 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3015 Radio-renal syndrome ORPHA:3015 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536267 E (Exact mapping: the two concepts are equivalent) OMIM:179280 E (Exact mapping: the two concepts are equivalent) UMLS:C2931146 E (Exact mapping: the two concepts are equivalent) A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.8 MeSH:C535281 OMIM:312190 UMLS:C4749807 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3016 Absent radius-anogenital anomalies syndrome ORPHA:3016 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535281 E (Exact mapping: the two concepts are equivalent) OMIM:312190 E (Exact mapping: the two concepts are equivalent) UMLS:C4749807 E (Exact mapping: the two concepts are equivalent) Rambaud-Gallian syndrome Rambaud-Gallian-Touchard syndrome A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed. Orphanet ICD-10:E78.8 MeSH:C535283 OMIM:277175 UMLS:C4510224 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome ORPHA:3018 ICD-10:E78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535283 E (Exact mapping: the two concepts are equivalent) OMIM:277175 E (Exact mapping: the two concepts are equivalent) UMLS:C4510224 E (Exact mapping: the two concepts are equivalent) Cherubism-gingival fibromatosis-intellectual disability syndrome A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C535285 OMIM:266270 UMLS:C0796133 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3019 Ramon syndrome ORPHA:3019 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535285 E (Exact mapping: the two concepts are equivalent) OMIM:266270 E (Exact mapping: the two concepts are equivalent) UMLS:C0796133 E (Exact mapping: the two concepts are equivalent) Lewandowsky-Lutz syndrome Lutz-Lewandowsky epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. Orphanet ICD-10:B07 ICD-11:1E83 MeSH:D004819 MedDRA:10052339 OMIM:226400 OMIM:305350 OMIM:618231 OMIM:618267 OMIM:618309 UMLS:C0014522 Autosomal recessive All ages Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=302 Inherited epidermodysplasia verruciformis ORPHA:302 ICD-10:B07 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:1E83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004819 E (Exact mapping: the two concepts are equivalent) MedDRA:10052339 E (Exact mapping: the two concepts are equivalent) OMIM:226400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618231 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618267 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618309 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0014522 E (Exact mapping: the two concepts are equivalent) Facial nerve palsy due to VZV Facial nerve palsy due to herpes zoster infection Facial nerve paralysis due to VZV A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus. Orphanet ICD-10:B02.2+ ICD-10:G53.0* ICD-11:8B88.Y UMLS:C0017409 Not applicable All ages United States AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3020 Ramsay Hunt syndrome ORPHA:3020 ICD-10:B02.2+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:G53.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:8B88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0017409 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies characterized by distinctive signs and facial associated features from which the acronym RAPADILINO is made: RA for radial ray defect, PA for patellae hypoplasia/aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:C535288 MedDRA:10088963 OMIM:266280 UMLS:C1849453 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3021 RAPADILINO syndrome ORPHA:3021 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535288 E (Exact mapping: the two concepts are equivalent) MedDRA:10088963 E (Exact mapping: the two concepts are equivalent) OMIM:266280 E (Exact mapping: the two concepts are equivalent) UMLS:C1849453 E (Exact mapping: the two concepts are equivalent) Anhidrotic ectodermic dysplasia-cleft lip/palate syndrome Ectodermal dysplasia syndrome, Rapp-Hodgkin type Ectodermal dysplasia, Rapp-Hodgkin type RHS This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MeSH:C535289 OMIM:129400 UMLS:C1785148 Rapp-Hodgkin syndrome ORPHA:3022 MeSH:C535289 E (Exact mapping: the two concepts are equivalent) OMIM:129400 E (Exact mapping: the two concepts are equivalent) UMLS:C1785148 E (Exact mapping: the two concepts are equivalent) Rasmussen-Johnsen-Thomsen syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Orphanet ICD-10:Q87.8 MeSH:C535290 OMIM:133705 UMLS:C2930867 Autosomal dominant Not applicable Unknown Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3023 External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535290 E (Exact mapping: the two concepts are equivalent) OMIM:133705 E (Exact mapping: the two concepts are equivalent) UMLS:C2930867 E (Exact mapping: the two concepts are equivalent) Goldblatt-Viljoen syndrome An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. Orphanet ICD-10:Q87.8 MeSH:C537280 OMIM:179270 UMLS:C2931464 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3026 Radial ray hypoplasia-choanal atresia syndrome ORPHA:3026 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537280 E (Exact mapping: the two concepts are equivalent) OMIM:179270 E (Exact mapping: the two concepts are equivalent) UMLS:C2931464 E (Exact mapping: the two concepts are equivalent) Caudal dysgenesis syndrome Caudal dysplasia Caudal regression sequence A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described. Orphanet ICD-10:Q76.0 ICD-11:LD2F.1Y MedDRA:10059387 OMIM:600145 UMLS:C0300948 Multigenic/multifactorial Not applicable Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3027 Caudal regression syndrome ORPHA:3027 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10059387 E (Exact mapping: the two concepts are equivalent) OMIM:600145 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0300948 E (Exact mapping: the two concepts are equivalent) 16p13.3 KIAA0590 gs114 ClinVar:IFT140 Ensembl:ENSG00000187535 Genatlas:IFT140 HGNC:29077 OMIM:614620 Reactome:Q96RY7 SwissProt:Q96RY7 IFT140 intraflagellar transport 140 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:Q63.1 NON RARE IN EUROPE: Horseshoe kidney ORPHA:3029 ICD-10:Q63.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 5p15.31 FLJ20303 Misu Myc-induced SUN-domain-containing protein RNA cytosine C(5)-methyltransferase NSUN2 SAKI TRM4 tRNA methyltransferase 4 homolog (S. cerevisiae) ClinVar:NSUN2 Ensembl:ENSG00000037474 Genatlas:NSUN2 HGNC:25994 OMIM:610916 Reactome:Q08J23 SwissProt:Q08J23 NSUN2 NOP2/Sun RNA methyltransferase 2 1p13.3 87U6 Guanine nucleotide-binding protein G(k) subunit alpha ClinVar:GNAI3 Ensembl:ENSG00000065135 Genatlas:GNAI3 HGNC:4387 OMIM:139370 Reactome:P08754 SwissProt:P08754 GNAI3 G protein subunit alpha i3 20p12.3-p12.2 ClinVar:PLCB4 Ensembl:ENSG00000101333 Genatlas:PLCB4 HGNC:9059 IUPHAR:1406 OMIM:600810 Reactome:Q15147 SwissProt:Q15147 PLCB4 phospholipase C beta 4 1q21.2 Hsh49 SAP49 SF3b49 ClinVar:SF3B4 Ensembl:ENSG00000143368 Genatlas:SF3B4 HGNC:10771 OMIM:605593 Reactome:Q15427 SwissProt:Q15427 SF3B4 splicing factor 3b subunit 4 7p21.2 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) D-ribitol-5-phosphate cytidylyltransferase IspD Nip Notch1-induced protein hCG_1745121 notch1-induced protein ClinVar:ISPD Ensembl:ENSG00000214960 Genatlas:ISPD HGNC:37276 OMIM:614631 SwissProt:A4D126 CRPPA CDP-L-ribitol pyrophosphorylase A 4p16.3 ClinVar:UVSSA Ensembl:ENSG00000163945 Genatlas:UVSSA HGNC:29304 OMIM:614632 Reactome:Q2YD98 SwissProt:Q2YD98 UVSSA UV stimulated scaffold protein A 1p13.2 KSHIVB Kv4.3 ClinVar:KCND3 Ensembl:ENSG00000171385 Genatlas:KCND3 HGNC:6239 IUPHAR:554 OMIM:605411 Reactome:Q9UK17 SwissProt:Q9UK17 KCND3 potassium voltage-gated channel subfamily D member 3 DEB Dermolytic epidermolysis bullosa Epidermolysis bullosa dystrophica A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB. Orphanet ICD-10:Q81.2 ICD-11:EC32 MeSH:D016108 UMLS:C0079294 Autosomal dominant Autosomal recessive Infancy Neonatal Australia AND has_point_prevalence_average_value : 0.39 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.572 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 1.41 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 0.83 AND has_point_prevalence_range : 1-9 / 1 000 000 Romania AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=303 Dystrophic epidermolysis bullosa Clinical group ORPHA:303 ICD-10:Q81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC32 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016108 E (Exact mapping: the two concepts are equivalent) UMLS:C0079294 E (Exact mapping: the two concepts are equivalent) 9q33.3-q34.11 CMT2P E3 ubiquitin-protein ligase LRSAM1 FLJ31641 RIFLE RING finger leucine repeat rich TAL TSG 101-associated ligase ClinVar:LRSAM1 Ensembl:ENSG00000148356 Genatlas:LRSAM1 HGNC:25135 OMIM:610933 Reactome:Q6UWE0 SwissProt:Q6UWE0 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 6q27 SMAP2 ClinVar:SMOC2 Ensembl:ENSG00000112562 Genatlas:SMOC2 HGNC:20323 OMIM:607223 SwissProt:Q9H3U7 SMOC2 SPARC related modular calcium binding 2 12q14.3 ClinVar:GRIP1 Ensembl:ENSG00000155974 Genatlas:GRIP1 HGNC:18708 OMIM:604597 Reactome:Q9Y3R0 SwissProt:Q9Y3R0 GRIP1 glutamate receptor interacting protein 1 4q31.3 BGL LAB300 LBA uc.147 ClinVar:LRBA Ensembl:ENSG00000198589 Genatlas:LRBA HGNC:1742 OMIM:606453 SwissProt:P50851 LRBA LPS responsive beige-like anchor protein 16q24.3 KIAA0233 ClinVar:PIEZO1 Ensembl:ENSG00000103335 Genatlas:PIEZO1 HGNC:28993 IUPHAR:2945 OMIM:611184 SwissProt:Q92508 PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) Goldston syndrome Meckel syndrome type 7 Meckel-like syndrome type 1 Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. Orphanet ICD-10:Q61.9 OMIM:267010 UMLS:C2673885 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3032 NPHP3-related Meckel-like syndrome ORPHA:3032 ICD-10:Q61.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:267010 E (Exact mapping: the two concepts are equivalent) UMLS:C2673885 E (Exact mapping: the two concepts are equivalent) Primitive renal tubule syndrome Renotubular dysgenesis A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects. Orphanet ICD-10:Q63.8 ICD-11:LB30.3 OMIM:267430 UMLS:C0266313 Autosomal recessive Not applicable Antenatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3033 Renal tubular dysgenesis ORPHA:3033 ICD-10:Q63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:267430 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0266313 E (Exact mapping: the two concepts are equivalent) Gonzales-del Angel syndrome Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development. Orphanet ICD-10:Q75.8 ICD-11:LB70.Y MeSH:C563592 OMIM:155980 UMLS:C1835030 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3034 Delayed membranous cranial ossification ORPHA:3034 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563592 E (Exact mapping: the two concepts are equivalent) OMIM:155980 E (Exact mapping: the two concepts are equivalent) UMLS:C1835030 E (Exact mapping: the two concepts are equivalent) Game-Friedman-Paradice syndrome Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. Orphanet ICD-10:Q87.8 MeSH:C535406 OMIM:236640 UMLS:C1856052 Antenatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3035 Growth delay-hydrocephaly-lung hypoplasia syndrome ORPHA:3035 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535406 E (Exact mapping: the two concepts are equivalent) OMIM:236640 E (Exact mapping: the two concepts are equivalent) UMLS:C1856052 E (Exact mapping: the two concepts are equivalent) 3p21.31 BBS17 ClinVar:LZTFL1 Ensembl:ENSG00000163818 Genatlas:LZTFL1 HGNC:6741 OMIM:606568 Reactome:Q9NQ48 SwissProt:Q9NQ48 LZTFL1 leucine zipper transcription factor like 1 17q21.31 CILD17 FLJ13094 FLJ34211 PR46b ClinVar:CCDC103 Ensembl:ENSG00000167131 Genatlas:CCDC103 HGNC:32700 OMIM:614677 Reactome:Q8IW40 SwissProt:Q8IW40 CCDC103 coiled-coil domain containing 103 17q21.31 CENP-36 Centromere protein 36 DKFZP727C091 MSL1v1 NSL1 centromere protein 36 ClinVar:KANSL1 Ensembl:ENSG00000120071 Genatlas:KANSL1 HGNC:24565 OMIM:612452 Reactome:Q7Z3B3 SwissProt:Q7Z3B3 KANSL1 KAT8 regulatory NSL complex subunit 1 9p13.2 CGI-102 CGI-102 protein Exosome component Rrp40 RRP40 Rrp40p exosome component Rrp40 hRrp-40 hRrp40p p10 ClinVar:EXOSC3 Ensembl:ENSG00000107371 Genatlas:EXOSC3 HGNC:17944 OMIM:606489 Reactome:Q9NQT5 SwissProt:Q9NQT5 EXOSC3 exosome component 3 15q13.3 DAND2 DRM HMPS down-regulated in mos-transformed cells gremlin hereditary mixed polyposis syndrome ClinVar:GREM1 Ensembl:ENSG00000166923 Genatlas:GREM1 HGNC:2001 OMIM:603054 Reactome:O60565 SwissProt:O60565 GREM1 gremlin 1, DAN family BMP antagonist Mehes syndrome This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. Orphanet ICD-10:Q87.0 MeSH:C536146 OMIM:182875 UMLS:C2931119 Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536146 E (Exact mapping: the two concepts are equivalent) OMIM:182875 E (Exact mapping: the two concepts are equivalent) UMLS:C2931119 E (Exact mapping: the two concepts are equivalent) 5q31.2 KIAA1129 ClinVar:KLHL3 Ensembl:ENSG00000146021 Genatlas:KLHL3 HGNC:6354 OMIM:605775 Reactome:Q9UH77 SwissProt:Q9UH77 KLHL3 kelch like family member 3 2q36.2 ClinVar:CUL3 Ensembl:ENSG00000036257 Genatlas:CUL3 HGNC:2553 OMIM:603136 Reactome:Q13618 SwissProt:Q13618 CUL3 cullin 3 5q31.3 HisRS Histidine tRNA ligase 1, cytoplasmic Jo-1 antigen histidine tRNA ligase 1, cytoplasmic ClinVar:HARS Ensembl:ENSG00000170445 Genatlas:HARS HGNC:4816 OMIM:142810 Reactome:P12081 SwissProt:P12081 HARS1 histidyl-tRNA synthetase 1 16q24.1 ClinVar:PLCG2 Ensembl:ENSG00000197943 Genatlas:PLCG2 HGNC:9066 IUPHAR:1408 OMIM:600220 Reactome:P16885 SwissProt:P16885 PLCG2 phospholipase C gamma 2 12q22 RAIDD RIP-associated ICH1/CED3-homologous protein with death domain ClinVar:CRADD Ensembl:ENSG00000169372 Genatlas:CRADD HGNC:2340 OMIM:603454 Reactome:P78560 SwissProt:P78560 CRADD CASP2 and RIPK1 domain containing adaptor with death domain 12q13.12 ClinVar:GPD1 Ensembl:ENSG00000167588 Genatlas:GPD1 HGNC:4455 OMIM:138420 Reactome:P21695 SwissProt:P21695 GPD1 glycerol-3-phosphate dehydrogenase 1 1p36.12 GATD6 KIAA0115 OST OST48 WBP1 advanced glycation end-product receptor 1 oligosaccharyltransferase subunit 48 ClinVar:DDOST Ensembl:ENSG00000244038 Genatlas:DDOST HGNC:2728 OMIM:602202 Reactome:P39656 SwissProt:P39656 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit Isolated atresia of bile ducts Non-syndromic biliary atresia A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool. Orphanet ICD-10:Q44.2 ICD-11:LB20.21 MeSH:D001656 MedDRA:10004654 OMIM:210500 UMLS:C5680082 Multigenic/multifactorial Antenatal Infancy Neonatal Australia AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 French Polynesia AND has_birth_prevalence_average_value : 32.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 10.6 AND has_point_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 12.7 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 18.5 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=30391 Isolated biliary atresia ORPHA:30391 ICD-10:Q44.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB20.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001656 E (Exact mapping: the two concepts are equivalent) MedDRA:10004654 E (Exact mapping: the two concepts are equivalent) OMIM:210500 E (Exact mapping: the two concepts are equivalent) UMLS:C5680082 E (Exact mapping: the two concepts are equivalent) EBS A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. Orphanet ICD-10:Q81.0 ICD-11:EC30 MeSH:D016110 UMLS:C0079298 Autosomal dominant Autosomal recessive Adolescent Childhood Infancy Neonatal Australia AND has_point_prevalence_average_value : 0.58 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_point_prevalence_average_value : 0.197 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.656 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=304 Epidermolysis bullosa simplex Clinical group ORPHA:304 ICD-10:Q81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016110 E (Exact mapping: the two concepts are equivalent) UMLS:C0079298 E (Exact mapping: the two concepts are equivalent) 22q13.33 DJ402G11.6 GCP6 Gamma-tubulin complex component 6 KIAA1669 gamma-tubulin complex component 6 ClinVar:TUBGCP6 Ensembl:ENSG00000128159 Genatlas:TUBGCP6 HGNC:18127 OMIM:610053 Reactome:Q96RT7 SwissProt:Q96RT7 TUBGCP6 tubulin gamma complex component 6 MeSH:D010911 UMLS:C0032019 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=304055 Pituitary tumor Category ORPHA:304055 MeSH:D010911 E (Exact mapping: the two concepts are equivalent) UMLS:C0032019 E (Exact mapping: the two concepts are equivalent) 5p12 ClinVar:NNT Ensembl:ENSG00000112992 Genatlas:NNT HGNC:7863 OMIM:607878 Reactome:Q13423 SwissProt:Q13423 NNT nicotinamide nucleotide transhydrogenase Scholte-Begeer-van Essen syndrome Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. Orphanet ICD-10:Q87.8 ICD-11:LD24.8Y MeSH:C536638 OMIM:300977 UMLS:C1866985 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3041 Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536638 E (Exact mapping: the two concepts are equivalent) OMIM:300977 E (Exact mapping: the two concepts are equivalent) UMLS:C1866985 E (Exact mapping: the two concepts are equivalent) 7p14.3 FKBP22 FLJ20731 ClinVar:FKBP14 Ensembl:ENSG00000106080 Genatlas:FKBP14 HGNC:18625 OMIM:614505 Reactome:Q9NWM8 SwissProt:Q9NWM8 FKBP14 FKBP prolyl isomerase 14 7q22.1 LH3 Lysyl hydroxlase 3 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 lysyl hydroxlase 3 ClinVar:PLOD3 Ensembl:ENSG00000106397 Genatlas:PLOD3 HGNC:9083 OMIM:603066 Reactome:O60568 SwissProt:O60568 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 20q13.33 GATAS bB379O24.1 ClinVar:GATA5 Ensembl:ENSG00000130700 Genatlas:GATA5 HGNC:15802 OMIM:611496 Reactome:Q9BWX5 SwissProt:Q9BWX5 GATA5 GATA binding protein 5 Primrose syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Orphanet ICD-10:Q87.8 MeSH:C536420 OMIM:259050 UMLS:C0796121 Childhood Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536420 E (Exact mapping: the two concepts are equivalent) OMIM:259050 E (Exact mapping: the two concepts are equivalent) UMLS:C0796121 E (Exact mapping: the two concepts are equivalent) 8q24.11 KIAA0078 SCC1 hHR21 kleisin sister chromatid cohesion 1 ClinVar:RAD21 Ensembl:ENSG00000164754 Genatlas:RAD21 HGNC:9811 OMIM:606462 Reactome:O60216 SwissProt:O60216 RAD21 RAD21 cohesin complex component 6q22.31 TRISK triadin in skeletal muscle ClinVar:TRDN Ensembl:ENSG00000186439 Genatlas:TRDN HGNC:12261 OMIM:603283 Reactome:Q13061 SwissProt:Q13061 TRDN triadin 11p15.5 PETA-3 RAPH SFA-1 TSPAN24 ClinVar:CD151 Ensembl:ENSG00000177697 Genatlas:CD151 HGNC:1630 OMIM:602243 Reactome:P48509 SwissProt:P48509 CD151 CD151 molecule (Raph blood group) 15q26.3 FLJ16363 FLJ32769 ClinVar:ADAMTS17 Ensembl:ENSG00000140470 Genatlas:ADAMTS17 HGNC:17109 IUPHAR:1689 OMIM:607511 Reactome:Q8TE56 SwissProt:Q8TE56 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 OBSOLETE: Morillo Cucci-Passarge syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Intellectual disability-unusual facies syndrome ORPHA:3043 A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.8 MeSH:C537447 OMIM:249599 UMLS:C1855303 Unknown Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537447 E (Exact mapping: the two concepts are equivalent) OMIM:249599 E (Exact mapping: the two concepts are equivalent) UMLS:C1855303 E (Exact mapping: the two concepts are equivalent) 7q21.2 FLJ22489 ODAG Ocular development associated gene RG083M05.2 ocular development associated gene ClinVar:GATAD1 Ensembl:ENSG00000157259 Genatlas:GATAD1 HGNC:29941 OMIM:614518 Reactome:Q8WUU5 SwissProt:Q8WUU5 GATAD1 GATA zinc finger domain containing 1 13q21.2 AN DRF3 FLJ34705 NSDAN ClinVar:DIAPH3 Ensembl:ENSG00000139734 Genatlas:DIAPH3 HGNC:15480 OMIM:614567 Reactome:Q9NSV4 SwissProt:Q9NSV4 DIAPH3 diaphanous related formin 3 OBSOLETE: Davis-Lafer syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type ORPHA:3046 9p13.3 DKFZp434M222 FLJ00135 PIG-O ClinVar:PIGO Ensembl:ENSG00000165282 Genatlas:PIGO HGNC:23215 OMIM:614730 Reactome:Q8TEQ8 SwissProt:Q8TEQ8 PIGO phosphatidylinositol glycan anchor biosynthesis class O 8q24.3 D15Ertd747e FLJ11856 G-protein coupled receptor 41 GPCR41 HuPAR-1 PAR1 RFT3 RFVT2 hRFT3 human porcine endogenous retrovirus subgroup A receptor 1 ClinVar:SLC52A2 Ensembl:ENSG00000185803 Genatlas:SLC52A2 HGNC:30224 IUPHAR:2572 OMIM:607882 Reactome:Q9HAB3 SwissProt:Q9HAB3 SLC52A2 solute carrier family 52 member 2 17q25.3 BIMP2 CARMA2 ClinVar:CARD14 Ensembl:ENSG00000141527 Genatlas:CARD14 HGNC:16446 OMIM:607211 SwissProt:Q9BXL6 CARD14 caspase recruitment domain family member 14 Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome SBBYS variant of Ohdo syndrome SBBYSS Say-Barber-Biesecker-Young-Simpson syndrome A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Orphanet ICD-10:Q87.8 ICD-11:5A00.0Y MeSH:C536717 OMIM:603736 UMLS:C1863557 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 122.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3047 Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536717 E (Exact mapping: the two concepts are equivalent) OMIM:603736 E (Exact mapping: the two concepts are equivalent) UMLS:C1863557 E (Exact mapping: the two concepts are equivalent) 9q34.3 NOHLH SPATA27 TEB2 bA100C15.3 bHLHe80 spermatogenesis associated 27 ClinVar:SOHLH1 Ensembl:ENSG00000165643 Genatlas:SOHLH1 HGNC:27845 OMIM:610224 Reactome:Q5JUK2 SwissProt:Q5JUK2 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 12q23.1 FXR HRR-1 HRR1 RIP14 bile acid receptor farnesoid X receptor ClinVar:NR1H4 Ensembl:ENSG00000012504 Genatlas:NR1H4 HGNC:7967 IUPHAR:603 OMIM:603826 Reactome:Q96RI1 SwissProt:Q96RI1 NR1H4 nuclear receptor subfamily 1 group H member 4 Epidermolysis bullosa atrophicans JEB A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. Orphanet ICD-11:EC31 MeSH:D016109 UMLS:C0079301 Autosomal recessive Adolescent Antenatal Infancy Neonatal Australia AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000 Ireland AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.93 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.21 AND has_point_prevalence_range : 1-9 / 1 000 000 South Africa AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.04 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=305 Junctional epidermolysis bullosa Clinical group ORPHA:305 ICD-11:EC31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016109 E (Exact mapping: the two concepts are equivalent) UMLS:C0079301 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Medrano-Roldan syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome ORPHA:3050 Intellectual disability-sparse hair-brachydactyly syndrome A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth. Orphanet ICD-10:Q87.1 MeSH:C536116 OMIM:601358 UMLS:C1303073 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 61.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3051 Nicolaides-Baraitser syndrome ORPHA:3051 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536116 E (Exact mapping: the two concepts are equivalent) OMIM:601358 E (Exact mapping: the two concepts are equivalent) UMLS:C1303073 E (Exact mapping: the two concepts are equivalent) Tranebjaerg-Svejgaard syndrome A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q87.8 MeSH:C536978 OMIM:309480 UMLS:C2931381 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3052 X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536978 E (Exact mapping: the two concepts are equivalent) OMIM:309480 E (Exact mapping: the two concepts are equivalent) UMLS:C2931381 E (Exact mapping: the two concepts are equivalent) Young-Hughes syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q87.8 MeSH:C536715 UMLS:C0796264 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536715 E (Exact mapping: the two concepts are equivalent) UMLS:C0796264 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-specific syndromic intellectual disability X-linked intellectual disability, Brooks type ORPHA:3056 Brunner syndrome Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. Orphanet ICD-10:E70.8 ICD-11:5C59.0Y MeSH:C563156 MedDRA:10081371 OMIM:300615 UMLS:C0796275 X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3057 Monoamine oxidase A deficiency ORPHA:3057 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563156 E (Exact mapping: the two concepts are equivalent) MedDRA:10081371 E (Exact mapping: the two concepts are equivalent) OMIM:300615 E (Exact mapping: the two concepts are equivalent) UMLS:C0796275 E (Exact mapping: the two concepts are equivalent) MRX35 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disability, Gu type ORPHA:3059 BFIE BFIS Benign familial infantile convulsions Benign familial infantile epilepsy Benign familial infantile seizures SeLIE Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Orphanet ICD-10:G40.3 ICD-11:8A61.10 OMIM:601764 OMIM:605751 OMIM:607745 OMIM:612627 OMIM:617080 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306 Self-limited infantile epilepsy ORPHA:306 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601764 E (Exact mapping: the two concepts are equivalent) OMIM:605751 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607745 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612627 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617080 BTNT (ORPHAcode is broader than the targeted code used to represent it) 11q24.1 LDLR relative with 11 ligand-binding repeats LR11 LRP9 SorLA SorLA-1 gp250 ClinVar:SORL1 Ensembl:ENSG00000137642 Genatlas:SORL1 HGNC:11185 OMIM:602005 Reactome:Q92673 SwissProt:Q92673 SORL1 sortilin related receptor 1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked non-syndromic intellectual disability OBSOLETE: X-linked intellectual disability, Raynaud type ORPHA:3061 11q22.1 ClinVar:KIAA1377 Ensembl:ENSG00000110318 Genatlas:KIAA1377 HGNC:29264 OMIM:614634 Reactome:Q9P2H0 SwissProt:Q9P2H0 CEP126 centrosomal protein 126 18q21.1 FLJ32743 ClinVar:CCDC11 Ensembl:ENSG00000172361 Genatlas:CCDC11 HGNC:26530 OMIM:614759 Reactome:Q96M91 SwissProt:Q96M91 CFAP53 cilia and flagella associated protein 53 11q22.2 interstitial collagenase ClinVar:MMP1 Ensembl:ENSG00000196611 Genatlas:MMP1 HGNC:7155 IUPHAR:1628 OMIM:120353 Reactome:P03956 SwissProt:P03956 MMP1 matrix metallopeptidase 1 19p13.11 P85B p85 p85-BETA p85beta phosphoinositide-3-kinase regulatory subunit beta ClinVar:PIK3R2 Ensembl:ENSG00000105647 Genatlas:PIK3R2 HGNC:8980 IUPHAR:2504 OMIM:603157 Reactome:O00459 SwissProt:O00459 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 18p11 HGNC:31376 DYT15 dystonia 15, myoclonic 19p13.3 beta-5 class IVa beta-tubulin ClinVar:TUBB4A Ensembl:ENSG00000104833 Genatlas:TUBB4A HGNC:20774 OMIM:602662 Reactome:P04350 SwissProt:P04350 TUBB4A tubulin beta 4A class IVa 20p11.22-q13.12 HGNC:35416 DYT17 dystonia 17 Xq26.1 ELFR MEF ClinVar:ELF4 Ensembl:ENSG00000102034 Genatlas:ELF4 HGNC:3319 OMIM:300775 SwissProt:Q99607 ELF4 E74 like ETS transcription factor 4 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked non-syndromic intellectual disability OBSOLETE: X-linked intellectual disability, Schutz type ORPHA:3062 Snyder-Robinson syndrome X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C536678 OMIM:309583 UMLS:C0796160 X-linked recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3063 X-linked intellectual disability, Snyder type ORPHA:3063 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536678 E (Exact mapping: the two concepts are equivalent) OMIM:309583 E (Exact mapping: the two concepts are equivalent) UMLS:C0796160 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: X-linked intellectual disability, Wittner type ORPHA:3064 18p11.21 TC-PTP TC45 TC48 TCELLPTP TCPTP ClinVar:PTPN2 Ensembl:ENSG00000175354 Genatlas:PTPN2 HGNC:9650 IUPHAR:3255 OMIM:176887 Reactome:P17706 SwissProt:P17706 PTPN2 protein tyrosine phosphatase non-receptor type 2 Acquired adult-onset immunodeficiency Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions. Orphanet ICD-10:D84.8 UMLS:C5191336 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies ORPHA:306431 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191336 E (Exact mapping: the two concepts are equivalent) OBSOLETE: CSID with starch intolerance OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch intolerance OBSOLETE: Congenital sucrose intolerance with starch intolerance OBSOLETE: Disaccharide intolerance with starch intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance ORPHA:306436 OBSOLETE: CSID with minimal starch tolerance OBSOLETE: Congenital sucrase-isomaltose malabsorption with minimal starch tolerance OBSOLETE: Congenital sucrose intolerance with minimal starch tolerance OBSOLETE: Disaccharide intolerance with minimal starch tolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance ORPHA:306446 OBSOLETE: CSID without starch intolerance OBSOLETE: Congenital sucrase-isomaltose malabsorption without starch intolerance OBSOLETE: Congenital sucrose intolerance without starch intolerance OBSOLETE: Disaccharide intolerance without starch intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance ORPHA:306462 OBSOLETE: CSID with starch and lactose intolerance OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance OBSOLETE: Disaccharide intolerance with starch and lactose intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance ORPHA:306474 OBSOLETE: CSID without sucrose intolerance OBSOLETE: Congenital sucrose-isomaltose malabsorption without sucrose intolerance OBSOLETE: Disaccharide intolerance without sucrose intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance ORPHA:306486 PHTS A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome. Orphanet UMLS:C1959582 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306498 PTEN hamartoma tumor syndrome Clinical group ORPHA:306498 UMLS:C1959582 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Monoamine oxidase A deficiency X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome ORPHA:3065 ILNEB syndrome JEB with interstitial lung disease and nephrotic syndrome Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. Orphanet ICD-10:J84.8 OMIM:614748 UMLS:C4518785 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614748 E (Exact mapping: the two concepts are equivalent) UMLS:C4518785 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pierson syndrome OMIM:614199 LAMB2-related infantile-onset nephrotic syndrome ORPHA:306507 OMIM:614199 E (Exact mapping: the two concepts are equivalent) SPG48 A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported. Orphanet ICD-10:G11.4 OMIM:613647 UMLS:C3150901 Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306511 Autosomal recessive spastic paraplegia type 48 ORPHA:306511 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613647 E (Exact mapping: the two concepts are equivalent) UMLS:C3150901 E (Exact mapping: the two concepts are equivalent) FHHNC Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Michellis-Castrillo syndrome Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms). Orphanet ICD-10:E83.4 UMLS:C5679977 Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 200.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis ORPHA:306516 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679977 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare renal tubular disease OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria ORPHA:306519 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare renal tubular disease OBSOLETE: Genetic primary hypomagnesemia with normocalciuria ORPHA:306522 Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. Orphanet ICD-10:Q87.0 OMIM:601471 UMLS:C4518577 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306527 Isolated hereditary congenital facial paralysis ORPHA:306527 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601471 E (Exact mapping: the two concepts are equivalent) UMLS:C4518577 E (Exact mapping: the two concepts are equivalent) Congenital hereditary facial palsy with variable deafness Congenital hereditary facial palsy with variable hearing loss Congenital hereditary facial paralysis with variable deafness Congenital hereditary facial paralysis-variable deafness syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. Orphanet ICD-10:Q87.0 OMIM:604185 OMIM:614744 UMLS:C4302592 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306530 Congenital hereditary facial paralysis-variable hearing loss syndrome ORPHA:306530 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604185 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614744 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4302592 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary poikiloderma OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary ORPHA:306539 ALX1-related frontonasal dysplasia Frontonasal dysplasia type 3 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. Orphanet ICD-10:Q87.0 OMIM:613456 UMLS:C4751077 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613456 E (Exact mapping: the two concepts are equivalent) UMLS:C4751077 E (Exact mapping: the two concepts are equivalent) A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Orphanet ICD-10:Q07.8 OMIM:613730 UMLS:C4751076 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome ORPHA:306547 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613730 E (Exact mapping: the two concepts are equivalent) UMLS:C4751076 E (Exact mapping: the two concepts are equivalent) FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the <i>FADD</i> gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. Orphanet ICD-10:D89.8 ICD-11:4A01.21 OMIM:613759 UMLS:C4509831 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306550 FADD-related immunodeficiency ORPHA:306550 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613759 E (Exact mapping: the two concepts are equivalent) UMLS:C4509831 E (Exact mapping: the two concepts are equivalent) Spherulocytosis Subcutaneous spherulocystic disease A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling. Orphanet ICD-10:M79.8 UMLS:C0027123 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306553 Myospherulosis ORPHA:306553 ICD-10:M79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0027123 E (Exact mapping: the two concepts are equivalent) Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. Orphanet ICD-10:Q02 OMIM:614231 OMIM:619278 UMLS:C5190632 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614231 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619278 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190632 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early-onset partial cataract OBSOLETE: Autosomal dominant childhood-onset cortical cataract ORPHA:306561 A rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve &#64257;ber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal. Orphanet ICD-10:G99.1 OMIM:133020 OMIM:615551 UMLS:C5190631 Autosomal dominant No data available Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306577 Hereditary sodium channelopathy-related small fibers neuropathy ORPHA:306577 ICD-10:G99.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:133020 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615551 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190631 E (Exact mapping: the two concepts are equivalent) OBSOLETE: ADOS OBSOLETE: Autosomal dominant Opitz BBB/G syndrome OBSOLETE: Autosomal dominant Opitz syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Opitz GBBB syndrome OBSOLETE: Autosomal dominant Opitz G/BBB syndrome ORPHA:306588 OBSOLETE: X-linked Opitz BBB/G syndrome OBSOLETE: X-linked Opitz syndrome OBSOLETE: XLOS This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Opitz GBBB syndrome OBSOLETE: X-linked Opitz G/BBB syndrome ORPHA:306597 SPG1 A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306617 X-linked complicated spastic paraplegia type 1 Clinical subtype ORPHA:306617 Rare tumor of gallbladder and EBT UMLS:C5679980 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306633 Rare tumor of gallbladder and extrahepatic biliary tract Category ORPHA:306633 UMLS:C5679980 E (Exact mapping: the two concepts are equivalent) Rare tumor of liver and IBT UMLS:C5679979 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306636 Rare tumor of liver and intrahepatic biliary tract Category ORPHA:306636 UMLS:C5679979 E (Exact mapping: the two concepts are equivalent) UMLS:C5681088 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306640 Rare intoxication due to medical products Category ORPHA:306640 UMLS:C5681088 E (Exact mapping: the two concepts are equivalent) ICD-10:T86.8 UMLS:C5681087 Not applicable All ages Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306644 Complication after organ transplantation ORPHA:306644 ICD-10:T86.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681087 E (Exact mapping: the two concepts are equivalent) Non-infectious iridocyclitis UMLS:C0339317 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306648 Non-infectious anterior uveitis Category ORPHA:306648 UMLS:C0339317 E (Exact mapping: the two concepts are equivalent) ICD-10:M11.2 ICD-11:5C64.5 MeSH:C566473 OMIM:610455 UMLS:C1864861 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306658 Familial normophosphatemic tumoral calcinosis Clinical subtype ORPHA:306658 ICD-10:M11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566473 E (Exact mapping: the two concepts are equivalent) OMIM:610455 E (Exact mapping: the two concepts are equivalent) UMLS:C1864861 E (Exact mapping: the two concepts are equivalent) Hypercalcemic tumoral calcinosis A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved. Orphanet ICD-10:M11.2 OMIM:211900 OMIM:617993 OMIM:617994 UMLS:C5679978 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome Clinical subtype ORPHA:306661 ICD-10:M11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:211900 E (Exact mapping: the two concepts are equivalent) OMIM:617993 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617994 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679978 E (Exact mapping: the two concepts are equivalent) UMLS:C5681086 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306666 Rare parkinsonian syndrome due to neurodegenerative disease Category ORPHA:306666 UMLS:C5681086 E (Exact mapping: the two concepts are equivalent) HP-HA syndrome Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated. Orphanet ICD-10:G20 ICD-11:8A00.21 UMLS:C4545231 Adolescent Adult Worldwide AND has_cases/families_value : 68.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306669 Hemiparkinsonism-hemiatrophy syndrome ORPHA:306669 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4545231 E (Exact mapping: the two concepts are equivalent) PARK9 Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. Orphanet ICD-10:G23.0 MeSH:C537177 OMIM:606693 UMLS:C1847640 Adolescent Childhood Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306674 Kufor-Rakeb syndrome ORPHA:306674 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537177 E (Exact mapping: the two concepts are equivalent) OMIM:606693 E (Exact mapping: the two concepts are equivalent) UMLS:C1847640 E (Exact mapping: the two concepts are equivalent) UMLS:C5681060 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306679 Rare parkinsonian syndrome due to intoxication Category ORPHA:306679 UMLS:C5681060 E (Exact mapping: the two concepts are equivalent) Manganese intoxication Manganism A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity. Orphanet ICD-10:T57.2 ICD-11:NE61 MeSH:D020149 MedDRA:10058951 UMLS:C0677050 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306682 Manganese poisoning ORPHA:306682 ICD-10:T57.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020149 E (Exact mapping: the two concepts are equivalent) MedDRA:10058951 E (Exact mapping: the two concepts are equivalent) UMLS:C0677050 E (Exact mapping: the two concepts are equivalent) Delayed encephalopathy due to CO poisoning A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year. Orphanet ICD-10:G21.2 UMLS:C0393565 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306686 Delayed encephalopathy due to carbon monoxide poisoning ORPHA:306686 ICD-10:G21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0393565 E (Exact mapping: the two concepts are equivalent) A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. Orphanet ICD-10:G21.2 ICD-11:8A00.2Y UMLS:C4707859 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306692 Cyanide-induced parkinsonism-dystonia ORPHA:306692 ICD-10:G21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707859 E (Exact mapping: the two concepts are equivalent) UMLS:C5681062 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306695 Miscellaneous movement disorder due to neurodegenerative disease Category ORPHA:306695 UMLS:C5681062 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome ORPHA:3067 UMLS:C5681061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306708 Frontotemporal neurodegeneration with movement disorder Category ORPHA:306708 UMLS:C5681061 E (Exact mapping: the two concepts are equivalent) UMLS:C5681066 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306712 Rare tremor disorder Category ORPHA:306712 UMLS:C5681066 E (Exact mapping: the two concepts are equivalent) UMLS:C5681065 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306715 Rare choreic movement disorder Category ORPHA:306715 UMLS:C5681065 E (Exact mapping: the two concepts are equivalent) UMLS:C5681064 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306719 Neurodegenerative disease with chorea Category ORPHA:306719 UMLS:C5681064 E (Exact mapping: the two concepts are equivalent) UMLS:C5681063 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306727 Postinfectious autoimmune disease with chorea Category ORPHA:306727 UMLS:C5681063 E (Exact mapping: the two concepts are equivalent) ICD-10:I02.0 ICD-10:I02.9 ICD-11:1B42 MedDRA:10042732 UMLS:C0152113 Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306731 Sydenham chorea ORPHA:306731 ICD-10:I02.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I02.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1B42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10042732 E (Exact mapping: the two concepts are equivalent) UMLS:C0152113 E (Exact mapping: the two concepts are equivalent) DYT21 Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. Orphanet ICD-10:G24.1 OMIM:614588 UMLS:C3281236 Adult Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306734 Primary dystonia, DYT21 type ORPHA:306734 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614588 E (Exact mapping: the two concepts are equivalent) UMLS:C3281236 E (Exact mapping: the two concepts are equivalent) HD-HA syndrome Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. Orphanet ICD-10:G24.8 UMLS:C4510649 Not applicable Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306741 Hemidystonia-hemiatrophy syndrome ORPHA:306741 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510649 E (Exact mapping: the two concepts are equivalent) UMLS:C5681067 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306747 Rare myoclonus Category ORPHA:306747 UMLS:C5681067 E (Exact mapping: the two concepts are equivalent) UMLS:C5681052 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306750 Primary myoclonus Category ORPHA:306750 UMLS:C5681052 E (Exact mapping: the two concepts are equivalent) UMLS:C5681053 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306753 Rare disease with myoclonus as a major feature Category ORPHA:306753 UMLS:C5681053 E (Exact mapping: the two concepts are equivalent) UMLS:C5681050 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306756 Epilepsy and/or ataxia with myoclonus as a major feature Category ORPHA:306756 UMLS:C5681050 E (Exact mapping: the two concepts are equivalent) UMLS:C5681051 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature Category ORPHA:306759 UMLS:C5681051 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Progressive myoclonic epilepsy OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature ORPHA:306762 MeSH:D013239 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306765 Motor stereotypies Category ORPHA:306765 MeSH:D013239 E (Exact mapping: the two concepts are equivalent) UMLS:C5681054 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306768 Rare paroxysmal movement disorder Category ORPHA:306768 UMLS:C5681054 E (Exact mapping: the two concepts are equivalent) MeSH:D000071017 MedDRA:10058271 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306773 Hyperekplexia Clinical group ORPHA:306773 MeSH:D000071017 E (Exact mapping: the two concepts are equivalent) MedDRA:10058271 E (Exact mapping: the two concepts are equivalent) A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia. Orphanet ICD-10:G25.8 UMLS:C5191042 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=306776 Sporadic hyperekplexia ORPHA:306776 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191042 E (Exact mapping: the two concepts are equivalent) Chudley-Rozdilsky syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C535458 OMIM:253320 UMLS:C1854663 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome ORPHA:3068 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535458 E (Exact mapping: the two concepts are equivalent) OMIM:253320 E (Exact mapping: the two concepts are equivalent) UMLS:C1854663 E (Exact mapping: the two concepts are equivalent) JME Juvenile myoclonus epilepsy Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). Orphanet ICD-10:G40.3 ICD-11:8A61.30 MeSH:D020190 MedDRA:10071082 OMIM:254770 OMIM:604827 OMIM:607628 OMIM:607682 OMIM:608816 OMIM:611136 OMIM:611364 OMIM:613060 OMIM:614280 OMIM:617924 UMLS:C0270853 Autosomal dominant Autosomal recessive Multigenic/multifactorial Adolescent Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307 Juvenile myoclonic epilepsy ORPHA:307 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020190 E (Exact mapping: the two concepts are equivalent) MedDRA:10071082 E (Exact mapping: the two concepts are equivalent) OMIM:254770 E (Exact mapping: the two concepts are equivalent) OMIM:604827 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:607628 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:607682 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:608816 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611136 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:611364 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613060 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614280 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617924 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0270853 E (Exact mapping: the two concepts are equivalent) Rare genetic hypokinetic movement disorder UMLS:C5679955 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307052 Rare genetic parkinsonian disorder Category ORPHA:307052 UMLS:C5679955 E (Exact mapping: the two concepts are equivalent) UMLS:C5681055 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease Category ORPHA:307055 UMLS:C5681055 E (Exact mapping: the two concepts are equivalent) UMLS:C5681056 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307058 Miscellaneous movement disorder due to genetic neurodegenerative disease Category ORPHA:307058 UMLS:C5681056 E (Exact mapping: the two concepts are equivalent) UMLS:C5681058 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307061 Rare genetic tremor disorder Category ORPHA:307061 UMLS:C5681058 E (Exact mapping: the two concepts are equivalent) UMLS:C5681059 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307064 Rare genetic myoclonus Category ORPHA:307064 UMLS:C5681059 E (Exact mapping: the two concepts are equivalent) UMLS:C5681057 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307067 Rare genetic disease with myoclonus as a major feature Category ORPHA:307067 UMLS:C5681057 E (Exact mapping: the two concepts are equivalent) FCS syndrome Faciocutaneoskeletal syndrome A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:D056685 MedDRA:10067380 OMIM:218040 UMLS:C0587248 Autosomal dominant Not applicable Antenatal Neonatal Japan AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3071 Costello syndrome ORPHA:3071 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056685 E (Exact mapping: the two concepts are equivalent) MedDRA:10067380 E (Exact mapping: the two concepts are equivalent) OMIM:218040 E (Exact mapping: the two concepts are equivalent) UMLS:C0587248 E (Exact mapping: the two concepts are equivalent) Diffuse PPK Diffuse keratosis palmoplantaris Diffuse palmoplantar hyperkeratosis ICD-11:EC20.30 MeSH:D015776 UMLS:C0022584 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307141 Diffuse palmoplantar keratoderma Category ORPHA:307141 ICD-11:EC20.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015776 E (Exact mapping: the two concepts are equivalent) UMLS:C0022584 E (Exact mapping: the two concepts are equivalent) Isolated diffuse PPK Isolated diffuse keratosis palmoplantaris Isolated diffuse palmoplantar hyperkeratosis UMLS:C5679959 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307148 Isolated diffuse palmoplantar keratoderma Clinical group ORPHA:307148 UMLS:C5679959 E (Exact mapping: the two concepts are equivalent) Stoll-Géraudel-Chauvin syndrome Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q87.8 UMLS:C4749650 Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3074 Intellectual disability-short stature-hypertelorism syndrome ORPHA:3074 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749650 E (Exact mapping: the two concepts are equivalent) Lindsay-Burn syndrome PPM-X An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities. Orphanet ICD-10:F71.1 ICD-11:LD90 OMIM:300055 UMLS:C0796222 X-linked dominant Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3077 X-linked intellectual disability-psychosis-macroorchidism syndrome ORPHA:3077 ICD-10:F71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300055 E (Exact mapping: the two concepts are equivalent) UMLS:C0796222 E (Exact mapping: the two concepts are equivalent) Disease with diffuse palmoplantar hyperkeratosis as a major feature UMLS:C5679958 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307711 Disease with diffuse palmoplantar keratoderma as a major feature Category ORPHA:307711 UMLS:C5679958 E (Exact mapping: the two concepts are equivalent) CHAC syndrome CHACS Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 MeSH:C536220 OMIM:607656 UMLS:C1843291 Adolescent Childhood Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307766 Curly hair-acral keratoderma-caries syndrome ORPHA:307766 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536220 E (Exact mapping: the two concepts are equivalent) OMIM:607656 E (Exact mapping: the two concepts are equivalent) UMLS:C1843291 E (Exact mapping: the two concepts are equivalent) Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis UMLS:C5679961 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma Clinical group ORPHA:307773 UMLS:C5679961 E (Exact mapping: the two concepts are equivalent) A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:F72.9 ICD-11:LD90 OMIM:309555 UMLS:C4302744 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3078 Severe X-linked intellectual disability, Gustavson type ORPHA:3078 ICD-10:F72.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:309555 E (Exact mapping: the two concepts are equivalent) UMLS:C4302744 E (Exact mapping: the two concepts are equivalent) Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature UMLS:C5679960 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Category ORPHA:307804 UMLS:C5679960 E (Exact mapping: the two concepts are equivalent) Focal PPK Focal keratosis palmoplantaris Focal palmoplantar hyperkeratosis ICD-11:EC20.31 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307837 Focal palmoplantar keratoderma Category ORPHA:307837 ICD-11:EC20.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Isolated focal PPK Isolated focal keratosis palmoplantaris Isolated focal palmoplantar hyperkeratosis UMLS:C5679962 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307846 Isolated focal palmoplantar keratoderma Clinical group ORPHA:307846 UMLS:C5679962 E (Exact mapping: the two concepts are equivalent) Disease with focal palmoplantar hyperkeratosis as a major feature UMLS:C5679963 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307871 Disease with focal palmoplantar keratoderma as a major feature Category ORPHA:307871 UMLS:C5679963 E (Exact mapping: the two concepts are equivalent) Mutchinick syndrome Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C563095 OMIM:249630 UMLS:C0796080 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3079 Intellectual disability, Buenos-Aires type ORPHA:3079 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563095 E (Exact mapping: the two concepts are equivalent) OMIM:249630 E (Exact mapping: the two concepts are equivalent) UMLS:C0796080 E (Exact mapping: the two concepts are equivalent) HOPP syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. Orphanet ICD-10:Q82.8 ICD-11:EC20.31 MeSH:C564357 OMIM:607658 UMLS:C1843285 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564357 E (Exact mapping: the two concepts are equivalent) OMIM:607658 E (Exact mapping: the two concepts are equivalent) UMLS:C1843285 E (Exact mapping: the two concepts are equivalent) Punctate PPK Punctate keratosis palmoplantaris Punctate palmoplantar hyperkeratosis UMLS:C1274216 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307967 Punctate palmoplantar keratoderma Category ORPHA:307967 UMLS:C1274216 E (Exact mapping: the two concepts are equivalent) Marginal papular palmoplantar hyperkeratosis UMLS:C5679964 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=307995 Marginal papular palmoplantar keratoderma Clinical group ORPHA:307995 UMLS:C5679964 E (Exact mapping: the two concepts are equivalent) EPM1 Progressive myoclonus epilepsy type 1 ULD Unverricht-Lundborg disease A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. Orphanet ICD-10:G40.3 ICD-11:8A61.41 MeSH:D020194 MedDRA:10054895 OMIM:254800 OMIM:310370 OMIM:612437 UMLS:C0751785 Autosomal recessive Adolescent Childhood Finland AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308 Progressive myoclonic epilepsy type 1 ORPHA:308 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020194 E (Exact mapping: the two concepts are equivalent) MedDRA:10054895 E (Exact mapping: the two concepts are equivalent) OMIM:254800 E (Exact mapping: the two concepts are equivalent) OMIM:310370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612437 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751785 E (Exact mapping: the two concepts are equivalent) Wolff-Zimmermann syndrome Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. Orphanet ICD-10:Q87.0 ICD-11:LD90 MeSH:C537448 OMIM:277990 UMLS:C1848439 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3080 Intellectual disability, Wolff type ORPHA:3080 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537448 E (Exact mapping: the two concepts are equivalent) OMIM:277990 E (Exact mapping: the two concepts are equivalent) UMLS:C1848439 E (Exact mapping: the two concepts are equivalent) PPKP3 without elastoidosis PPPK3 without elastoidosis Punctate palmoplantar hyperkeratosis type 3 without elastoidosis Punctate palmoplantar keratoderma type 3 without elastoidosis A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial. Orphanet ICD-10:Q82.8 UMLS:C1302839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308013 Focal acral hyperkeratosis ORPHA:308013 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1302839 E (Exact mapping: the two concepts are equivalent) Disease with punctate palmoplantar hyperkeratosis as a major feature UMLS:C5679965 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308023 Disease with punctate palmoplantar keratoderma as a major feature Category ORPHA:308023 UMLS:C5679965 E (Exact mapping: the two concepts are equivalent) Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature UMLS:C5679967 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Category ORPHA:308031 UMLS:C5679967 E (Exact mapping: the two concepts are equivalent) Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature UMLS:C5679966 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Category ORPHA:308041 UMLS:C5679966 E (Exact mapping: the two concepts are equivalent) 11p11.2 BHC80 BM-006 KIAA1696 ClinVar:PHF21A Ensembl:ENSG00000135365 Genatlas:PHF21A HGNC:24156 OMIM:608325 Reactome:Q96BD5 SwissProt:Q96BD5 PHF21A PHD finger protein 21A 11p15.5 BRIL DSPA1 Fragilis4 Hrmp1 dispanin subfamily A member 1 fragilis4 ClinVar:IFITM5 Ensembl:ENSG00000206013 Genatlas:IFITM5 HGNC:16644 OMIM:614757 SwissProt:A6NNB3 IFITM5 interferon induced transmembrane protein 5 15q13.3 ClinVar:FAN1 Ensembl:ENSG00000198690 Genatlas:FAN1 HGNC:29170 OMIM:613534 Reactome:Q9Y2M0 SwissProt:Q9Y2M0 FAN1 FANCD2 and FANCI associated nuclease 1 Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP. Orphanet UMLS:C5681068 Childhood Infancy Neonatal France AND has_point_prevalence_average_value : 0.046 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308166 Erythrokeratoderma variabilis progressiva Clinical group ORPHA:308166 UMLS:C5681068 E (Exact mapping: the two concepts are equivalent) Kozlowski-Krajewska syndrome Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. Orphanet ICD-10:Q87.2 MeSH:C537615 UMLS:C2931547 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3082 Intellectual disability-polydactyly-uncombable hair syndrome ORPHA:3082 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537615 E (Exact mapping: the two concepts are equivalent) UMLS:C2931547 E (Exact mapping: the two concepts are equivalent) 4q34.3-q35.1 KIAA1455 TEN3 Ten-M3 Ensembl:ENSG00000218336 HGNC:29944 OMIM:610083 SwissProt:Q9P273 TENM3 teneurin transmembrane protein 3 5q33.1 Dyn4 p62 ClinVar:DCTN4 Ensembl:ENSG00000132912 Genatlas:DCTN4 HGNC:15518 OMIM:614758 Reactome:Q9UJW0 SwissProt:Q9UJW0 DCTN4 dynactin subunit 4 Functional methionine synthase deficiency type cblDv1 ICD-10:E72.1 ICD-11:5C50.B OMIM:277410 UMLS:C5679956 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308380 Methylcobalamin deficiency type cblDv1 Clinical subtype ORPHA:308380 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:277410 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679956 E (Exact mapping: the two concepts are equivalent) Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A MOCOD type A ICD-10:E72.1 ICD-11:5C50.B OMIM:252150 UMLS:C5679957 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Etiological subtype ORPHA:308386 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:252150 E (Exact mapping: the two concepts are equivalent) UMLS:C5679957 E (Exact mapping: the two concepts are equivalent) Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B MOCOD type B ICD-10:E72.1 ICD-11:5C50.B MeSH:C565373 OMIM:252160 UMLS:C1854989 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Etiological subtype ORPHA:308393 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565373 E (Exact mapping: the two concepts are equivalent) OMIM:252160 E (Exact mapping: the two concepts are equivalent) UMLS:C1854989 E (Exact mapping: the two concepts are equivalent) Pigmentary retinopathy-intellectual disability syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome OMIM:268050 UMLS:C0796072 Mirhosseini-Holmes-Walton syndrome ORPHA:3084 OMIM:268050 E (Exact mapping: the two concepts are equivalent) UMLS:C0796072 E (Exact mapping: the two concepts are equivalent) Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C MOCOD type C ICD-10:E72.1 ICD-11:5C50.B MeSH:C565374 OMIM:615501 UMLS:C1854990 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Etiological subtype ORPHA:308400 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565374 E (Exact mapping: the two concepts are equivalent) OMIM:615501 E (Exact mapping: the two concepts are equivalent) UMLS:C1854990 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.C UMLS:C0342707 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308407 Disorder of beta and omega amino acid metabolism Category ORPHA:308407 ICD-11:5C50.C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342707 E (Exact mapping: the two concepts are equivalent) A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Orphanet ICD-10:E71.1 OMIM:614923 UMLS:C4749908 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency ORPHA:308410 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614923 E (Exact mapping: the two concepts are equivalent) UMLS:C4749908 E (Exact mapping: the two concepts are equivalent) MCEE deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:251120 UMLS:C4707328 Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ORPHA:308425 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:251120 E (Exact mapping: the two concepts are equivalent) UMLS:C4707328 E (Exact mapping: the two concepts are equivalent) Vitamin B12-responsive methylmalonic aciduria, type cblDv2 ICD-10:E71.1 ICD-11:5C50.E0 OMIM:277410 UMLS:C5679970 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Clinical subtype ORPHA:308442 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:277410 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679970 E (Exact mapping: the two concepts are equivalent) UMLS:C5681074 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308448 Aminoacylase deficiency Clinical group ORPHA:308448 UMLS:C5681074 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308451 Disorder of neutral amino acid transport Category ORPHA:308451 UMLS:C5681073 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308459 Disorder of glycolysis Category ORPHA:308459 UMLS:C5681073 E (Exact mapping: the two concepts are equivalent) ICD-10:E74.1 ICD-11:5C51.5 UMLS:C0342744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308463 Disorder of fructose metabolism Category ORPHA:308463 ICD-10:E74.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C51.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342744 E (Exact mapping: the two concepts are equivalent) ICD-10:E74.2 ICD-11:5C51.4 UMLS:C0342745 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308467 Disorder of galactose metabolism Category ORPHA:308467 ICD-10:E74.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C51.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342745 E (Exact mapping: the two concepts are equivalent) Erythrocyte GALE deficiency Erythrocyte GALE-D Erythrocyte UDP-galactose-4-epimerase deficiency Erythrocyte epimerase deficiency galactosemia Erythrocyte uridine diphosphate galactose-4-epimerase deficiency ICD-10:E74.2 ICD-11:5C51.4Y OMIM:230350 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308473 Erythrocyte galactose epimerase deficiency Clinical subtype ORPHA:308473 ICD-10:E74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:230350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Generalized GALE deficiency Generalized GALE-D Generalized UDP-galactose-4-epimerase deficiency Generalized epimerase deficiency galactosemia Generalized uridine diphosphate galactose-4-epimerase deficiency ICD-10:E74.2 ICD-11:5C51.4Y OMIM:230350 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308487 Generalized galactose epimerase deficiency Clinical subtype ORPHA:308487 ICD-10:E74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:230350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Edwards-Sethi syndrome Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y OMIM:268020 UMLS:C5679580 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268020 E (Exact mapping: the two concepts are equivalent) UMLS:C5679580 E (Exact mapping: the two concepts are equivalent) GSD due to glycogen synthase deficiency Glycogenosis due to glycogen synthase deficiency UMLS:C5679973 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308520 Glycogen storage disease due to glycogen synthase deficiency Clinical group ORPHA:308520 UMLS:C5679973 E (Exact mapping: the two concepts are equivalent) Alpha-1,4-glucosidase acid deficiency, infantile onset GSD due to acid maltase deficiency, infantile onset GSD type 2, infantile onset GSD type II, infantile onset Glycogen storage disease type 2, infantile onset Glycogen storage disease type II, infantile onset Glycogenosis due to acid maltase deficiency, infantile onset Glycogenosis type 2, infantile onset Glycogenosis type II, infantile onset Pompe disease, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:232300 UMLS:C3888924 Autosomal recessive Antenatal Infancy Neonatal Europe AND has_point_prevalence_range : Unknown Netherlands AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308552 Glycogen storage disease due to acid maltase deficiency, infantile onset Clinical subtype ORPHA:308552 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:232300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3888924 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Alpha-1,4-glucosidase acid deficiency, juvenile onset OBSOLETE: GSD due to acid maltase deficiency, juvenile onset OBSOLETE: GSD type 2, juvenile onset OBSOLETE: Glycogen storage disease type 2, juvenile onset OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset OBSOLETE: Glycogenosis type 2, juvenile onset OBSOLETE: Pompe disease, juvenile onset This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Glycogen storage disease due to acid maltase deficiency, late-onset OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset ORPHA:308573 ADVIRC A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C536352 OMIM:193220 UMLS:C3888099 Autosomal dominant All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 3.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3086 Autosomal dominant vitreoretinochoroidopathy ORPHA:3086 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536352 E (Exact mapping: the two concepts are equivalent) OMIM:193220 E (Exact mapping: the two concepts are equivalent) UMLS:C3888099 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Alpha-1,4-glucosidase acid deficiency, adult onset OBSOLETE: GSD due to acid maltase deficiency, adult onset OBSOLETE: GSD type 2, adulte onset OBSOLETE: Glycogen storage disease type 2, adult onset OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset OBSOLETE: Glycogenosis type 2, adult onset OBSOLETE: Pompe disease, adult onset This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Glycogen storage disease due to acid maltase deficiency, late-onset OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset ORPHA:308604 GBE deficiency, progressive hepatic form GSD due to glycogen branching enzyme deficiency, progressive hepatic form GSD type 4, progressive hepatic form GSDIV, progressive hepatic form Glycogen storage disease type 4, progressive hepatic form Glycogen storage disease type IV, progressive hepatic form Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form Glycogenosis type 4, progressive hepatic form Glycogenosis type IV, progressive hepatic form ICD-10:E74.0 ICD-11:5C51.3 OMIM:232500 UMLS:C5679972 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Clinical subtype ORPHA:308621 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:232500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679972 E (Exact mapping: the two concepts are equivalent) GBE deficiency, non progressive hepatic form GSD due to glycogen branching enzyme deficiency, non progressive hepatic form GSD type 4, non progressive hepatic form GSDIV, non progressive hepatic form Glycogen storage disease type 4, non progressive hepatic form Glycogen storage disease type IV, non progressive hepatic form Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogenosis type 4, non progressive hepatic form Glycogenosis type IV, non progressive hepatic form ICD-10:E74.0 ICD-11:5C51.3 OMIM:232500 UMLS:C5679971 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Clinical subtype ORPHA:308638 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:232500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679971 E (Exact mapping: the two concepts are equivalent) GBE deficiency, fatal perinatal neuromuscular form GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form GSD type 4, fatal perinatal neuromuscular form GSDIV, fatal perinatal neuromuscular form Glycogen storage disease type 4, fatal perinatal neuromuscular form Glycogen storage disease type IV, fatal perinatal neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogenosis type 4, fatal perinatal neuromuscular form Glycogenosis type IV, fatal perinatal neuromuscular form ICD-10:E74.0 ICD-11:5C51.3 MeSH:C565541 OMIM:232500 UMLS:C1856303 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Clinical subtype ORPHA:308655 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565541 E (Exact mapping: the two concepts are equivalent) OMIM:232500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1856303 E (Exact mapping: the two concepts are equivalent) GBE deficiency, congenital neuromuscular form GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form GSD type 4, congenital neuromuscular form GSDIV, congenital neuromuscular form Glycogen storage disease type 4, congenital neuromuscular form Glycogen storage disease type IV, congenital neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogenosis type 4, congenital neuromuscular form Glycogenosis type IV, congenital neuromuscular form ICD-10:E74.0 ICD-11:5C51.3 MeSH:C565542 OMIM:232500 UMLS:C1856304 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Clinical subtype ORPHA:308670 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565542 E (Exact mapping: the two concepts are equivalent) OMIM:232500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1856304 E (Exact mapping: the two concepts are equivalent) GBE deficiency, childhood combined hepatic and myopathic form GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form GSD type 4, childhood combined hepatic and myopathic form GSDIV, childhood combined hepatic and myopathic form Glycogen storage disease type 4, childhood combined hepatic and myopathic form Glycogen storage disease type IV, childhood combined hepatic and myopathic form Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogenosis type 4, childhood combined hepatic and myopathic form Glycogenosis type IV, childhood combined hepatic and myopathic form ICD-10:E74.0 ICD-11:5C51.3 OMIM:232500 UMLS:C5679969 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Clinical subtype ORPHA:308684 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:232500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679969 E (Exact mapping: the two concepts are equivalent) GBE deficiency, childhood neuromuscular form GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form GSD type 4, childhood neuromuscular form GSDIV, childhood neuromuscular form Glycogen storage disease type 4, childhood neuromuscular form Glycogen storage disease type IV, childhood neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogenosis type 4, childhood neuromuscular form Glycogenosis type IV, childhood neuromuscular form ICD-10:E74.0 ICD-11:5C51.3 MeSH:C565543 OMIM:232500 UMLS:C1856305 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Clinical subtype ORPHA:308698 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565543 E (Exact mapping: the two concepts are equivalent) OMIM:232500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1856305 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alström syndrome OMIM:268040 UMLS:C1849399 Retinohepatoendocrinologic syndrome ORPHA:3087 OMIM:268040 E (Exact mapping: the two concepts are equivalent) UMLS:C1849399 E (Exact mapping: the two concepts are equivalent) GBE deficiency, adult neuromuscular form GSD due to glycogen branching enzyme deficiency, adult neuromuscular form GSD type 4, adult neuromuscular form GSDIV, adult neuromuscular form Glycogen storage disease type 4, adult neuromuscular form Glycogen storage disease type IV, adult neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogenosis type 4, adult neuromuscular form Glycogenosis type IV, adult neuromuscular form ICD-10:E74.0 ICD-11:5C51.3 OMIM:232500 UMLS:C5679968 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Clinical subtype ORPHA:308712 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:232500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679968 E (Exact mapping: the two concepts are equivalent) Dyskeratosis congenita with bilateral exudative retinopathy Retinopathy-anemia-central nervous system anomalies syndrome Revesz-DeBuse syndrome Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Orphanet ICD-10:Q82.8 MeSH:C538371 OMIM:268130 UMLS:C1327916 Autosomal dominant Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 4.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3088 Revesz syndrome ORPHA:3088 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538371 E (Exact mapping: the two concepts are equivalent) OMIM:268130 E (Exact mapping: the two concepts are equivalent) UMLS:C1327916 E (Exact mapping: the two concepts are equivalent) UMLS:C0268418 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308993 Glycerol kinase deficiency Clinical group ORPHA:308993 UMLS:C0268418 E (Exact mapping: the two concepts are equivalent) ICD-11:5C51.2 UMLS:C5681070 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=308998 Disorder of glyoxylate metabolism Category ORPHA:308998 ICD-11:5C51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681070 E (Exact mapping: the two concepts are equivalent) UMLS:C5680862 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309 Familial partial epilepsy Clinical group ORPHA:309 UMLS:C5680862 E (Exact mapping: the two concepts are equivalent) Congenital pulmonary venous connection anomaly A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous. Orphanet MedDRA:10058079 UMLS:C0265916 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3090 Congenital pulmonary venous return anomaly Clinical group ORPHA:3090 MedDRA:10058079 E (Exact mapping: the two concepts are equivalent) UMLS:C0265916 E (Exact mapping: the two concepts are equivalent) ICD-11:5C61 UMLS:C5681069 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309001 Disorder of carbohydrate absorption and transport Category ORPHA:309001 ICD-11:5C61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681069 E (Exact mapping: the two concepts are equivalent) MeSH:D052439 MedDRA:10061227 UMLS:C0154251 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309005 Disorder of lipid metabolism Category ORPHA:309005 MeSH:D052439 E (Exact mapping: the two concepts are equivalent) MedDRA:10061227 E (Exact mapping: the two concepts are equivalent) UMLS:C0154251 E (Exact mapping: the two concepts are equivalent) LPL deficiency ICD-10:E78.3 ICD-11:5C80.1 OMIM:144250 OMIM:238600 Childhood Infancy Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309015 Familial lipoprotein lipase deficiency Etiological subtype ORPHA:309015 ICD-10:E78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:144250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:238600 E (Exact mapping: the two concepts are equivalent) Familial APOC2 deficiency Familial apoC-II deficiency ICD-10:E78.3 ICD-11:5C80.1 OMIM:207750 UMLS:C0268199 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309020 Familial apolipoprotein C-II deficiency Etiological subtype ORPHA:309020 ICD-10:E78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:207750 E (Exact mapping: the two concepts are equivalent) UMLS:C0268199 E (Exact mapping: the two concepts are equivalent) MKD A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria. Orphanet ICD-10:E88.8 ICD-11:5C52.10 MeSH:D054078 MedDRA:10072221 OMIM:260920 OMIM:610377 UMLS:C0342731 Not applicable Infancy Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309025 Mevalonate kinase deficiency ORPHA:309025 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054078 E (Exact mapping: the two concepts are equivalent) MedDRA:10072221 E (Exact mapping: the two concepts are equivalent) OMIM:260920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610377 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342731 E (Exact mapping: the two concepts are equivalent) ICD-11:5C62 UMLS:C5681072 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309028 Disorder of lipid absorption and transport Category ORPHA:309028 ICD-11:5C62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681072 E (Exact mapping: the two concepts are equivalent) Pancreatic triglyceride lipase deficiency A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported. Orphanet ICD-10:K90.3 ICD-11:5C62 OMIM:614338 UMLS:C0268240 Not applicable Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309031 Pancreatic triacylglycerol lipase deficiency ORPHA:309031 ICD-10:K90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C62 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614338 E (Exact mapping: the two concepts are equivalent) UMLS:C0268240 E (Exact mapping: the two concepts are equivalent) UMLS:C5680873 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3091 Congenital systemic veins anomaly Category ORPHA:3091 UMLS:C5680873 E (Exact mapping: the two concepts are equivalent) A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:K90.3 ICD-11:5C62 OMIM:614338 UMLS:C0268241 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309108 Pancreatic colipase deficiency ORPHA:309108 ICD-10:K90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C62 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614338 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0268241 E (Exact mapping: the two concepts are equivalent) Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:K90.3 ICD-11:5C62 OMIM:614338 UMLS:C4706317 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309111 Combined pancreatic lipase-colipase deficiency ORPHA:309111 ICD-10:K90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C62 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614338 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4706317 E (Exact mapping: the two concepts are equivalent) ICD-11:5C52.01 UMLS:C5681071 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309115 Disorder of fatty acid oxidation and ketogenesis Category ORPHA:309115 ICD-11:5C52.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681071 E (Exact mapping: the two concepts are equivalent) UMLS:C0268635 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309120 Acyl-CoA dehydrogenase deficiency Clinical group ORPHA:309120 UMLS:C0268635 E (Exact mapping: the two concepts are equivalent) MeSH:C535310 UMLS:C1291230 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309127 3-hydroxyacyl-CoA dehydrogenase deficiency Clinical group ORPHA:309127 MeSH:C535310 E (Exact mapping: the two concepts are equivalent) UMLS:C1291230 E (Exact mapping: the two concepts are equivalent) ICD-11:5C52.00 UMLS:C5681080 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309130 Disorder of carnitine cycle and carnitine transport Category ORPHA:309130 ICD-11:5C52.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681080 E (Exact mapping: the two concepts are equivalent) UMLS:C5681079 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309133 Metabolic disease due to other fatty acid oxidation disorder Category ORPHA:309133 UMLS:C5681079 E (Exact mapping: the two concepts are equivalent) UMLS:C5681078 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Category ORPHA:309136 UMLS:C5681078 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Mitochondrial disorder due to a defect in mitochondrial protein synthesis OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA ORPHA:309139 ICD-11:5C56.00 MeSH:D005733 UMLS:C0017083 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309144 Gangliosidosis Category ORPHA:309144 ICD-11:5C56.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005733 E (Exact mapping: the two concepts are equivalent) UMLS:C0017083 E (Exact mapping: the two concepts are equivalent) Hyperalaninemia A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:E79.8 ICD-11:5C55.1 MeSH:C562684 OMIM:237400 UMLS:C0268630 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309147 Hyper-beta-alaninemia ORPHA:309147 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562684 E (Exact mapping: the two concepts are equivalent) OMIM:237400 E (Exact mapping: the two concepts are equivalent) UMLS:C0268630 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.0 ICD-11:5C56.00 MeSH:D020143 MedDRA:10083933 UMLS:C0268274 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.87 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309152 GM2 gangliosidosis Clinical group ORPHA:309152 ICD-10:E75.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020143 E (Exact mapping: the two concepts are equivalent) MedDRA:10083933 E (Exact mapping: the two concepts are equivalent) UMLS:C0268274 E (Exact mapping: the two concepts are equivalent) Beta-hexosaminidase subunit beta deficiency, infantile form GM2 gangliosidosis, Sandhoff variant, infantile form GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form ICD-10:E75.0 ICD-11:5C56.00 OMIM:268800 UMLS:C0751490 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309155 Sandhoff disease, infantile form Clinical subtype ORPHA:309155 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751490 E (Exact mapping: the two concepts are equivalent) Beta-hexosaminidase subunit beta deficiency, juvenile form GM2 gangliosidosis, Sandhoff variant, juvenile form GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form ICD-10:E75.0 ICD-11:5C56.00 OMIM:268800 UMLS:C0751491 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309162 Sandhoff disease, juvenile form Clinical subtype ORPHA:309162 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751491 E (Exact mapping: the two concepts are equivalent) Beta-hexosaminidase subunit beta deficiency, adult form GM2 gangliosidosis, Sandhoff variant, adult form GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form ICD-10:E75.0 ICD-11:5C56.00 OMIM:268800 UMLS:C0751489 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309169 Sandhoff disease, adult form Clinical subtype ORPHA:309169 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751489 E (Exact mapping: the two concepts are equivalent) Acute infantile Tay-Sachs disease Beta-hexosaminidase subunit alpha deficiency, infantile form GM2 gangliosidosis, Tay-Sachs variant, infantile form GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form HEXA disorder, infantile form ICD-10:E75.0 ICD-11:5C56.00 OMIM:272800 UMLS:C5679976 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309178 Tay-Sachs disease, infantile form Clinical subtype ORPHA:309178 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:272800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679976 E (Exact mapping: the two concepts are equivalent) Beta-hexosaminidase subunit alpha deficiency, juvenile form GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form GM2 gangliosidosis, Tay-Sachs variant, juvenile form HEXA disorder, juvenile form Subacute juvenile Tay-Sachs disease ICD-10:E75.0 ICD-11:5C56.00 OMIM:272800 UMLS:C5679975 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309185 Tay-Sachs disease, juvenile form Clinical subtype ORPHA:309185 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:272800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679975 E (Exact mapping: the two concepts are equivalent) Beta-hexosaminidase subunit alpha deficiency, adult form GM2 gangliosidosis, Tay-Sachs variant, adult form GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form HEXA disorder, adult form Late-onset Tay-Sachs disease ICD-10:E75.0 ICD-11:5C56.00 OMIM:272800 UMLS:C1848914 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309192 Tay-Sachs disease, adult form Clinical subtype ORPHA:309192 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:272800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1848914 E (Exact mapping: the two concepts are equivalent) Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form. Orphanet ICD-10:Q24.4 ICD-11:LA8A.5 OMIM:271950 No data available Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3092 Fixed subaortic stenosis ORPHA:3092 ICD-10:Q24.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8A.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:271950 BTNT (ORPHAcode is broader than the targeted code used to represent it) OBSOLETE: GM2 gangliosidosis, B1 variant OBSOLETE: Hexosaminidase A deficiency, B1 variant This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Tay-Sachs disease OBSOLETE: Tay-Sachs disease, B1 variant ORPHA:309239 HOMG1 HSH Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Intestinal hypomagnesemia with secondary hypocalcemia PHSH Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. Orphanet ICD-10:E83.4 ICD-11:5C64.41 MeSH:C566593 OMIM:602014 UMLS:C1865974 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=30924 Primary hypomagnesemia with secondary hypocalcemia ORPHA:30924 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566593 E (Exact mapping: the two concepts are equivalent) OMIM:602014 E (Exact mapping: the two concepts are equivalent) UMLS:C1865974 E (Exact mapping: the two concepts are equivalent) Hexosaminidase activator deficiency GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. Orphanet ICD-10:E75.0 ICD-11:5C56.00 OMIM:272750 UMLS:C0268275 Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309246 GM2 gangliosidosis, AB variant ORPHA:309246 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:272750 E (Exact mapping: the two concepts are equivalent) UMLS:C0268275 E (Exact mapping: the two concepts are equivalent) Hereditary CDI Hereditary neurogenic diabetes insipidus Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. Orphanet ICD-10:E23.2 ICD-11:5A61.5 OMIM:125700 OMIM:304900 UMLS:C5680110 Autosomal dominant Autosomal recessive X-linked dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=30925 Hereditary arginine vasopressin deficiency Clinical subtype ORPHA:30925 ICD-10:E23.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:125700 E (Exact mapping: the two concepts are equivalent) OMIM:304900 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680110 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:5C56.0Y MeSH:C566435 OMIM:610539 UMLS:C1864651 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309252 Atypical Gaucher disease due to saposin C deficiency Clinical subtype ORPHA:309252 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566435 E (Exact mapping: the two concepts are equivalent) OMIM:610539 E (Exact mapping: the two concepts are equivalent) UMLS:C1864651 E (Exact mapping: the two concepts are equivalent) Arylsulfatase A deficiency, late infantile form MLD, late infantile form A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life. Orphanet ICD-10:E75.2 ICD-11:5C56.02 OMIM:250100 UMLS:C0751278 Infancy Worldwide AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309256 Metachromatic leukodystrophy, late infantile form Clinical subtype ORPHA:309256 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:250100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751278 E (Exact mapping: the two concepts are equivalent) Arylsulfatase A deficiency, juvenile form MLD, juvenile form A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life. Orphanet ICD-10:E75.2 ICD-11:5C56.02 OMIM:250100 UMLS:C0751276 Adolescent Childhood Worldwide AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309263 Metachromatic leukodystrophy, juvenile form Clinical subtype ORPHA:309263 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:250100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751276 E (Exact mapping: the two concepts are equivalent) Arylsulfatase A deficiency, adult form MLD, adult form A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset. Orphanet ICD-10:E75.2 ICD-11:5C56.02 OMIM:250100 UMLS:C0751279 Adult Worldwide AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309271 Metachromatic leukodystrophy, adult form Clinical subtype ORPHA:309271 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:250100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751279 E (Exact mapping: the two concepts are equivalent) ICD-11:5C56.2 UMLS:C5681075 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309279 Glycoproteinosis Category ORPHA:309279 ICD-11:5C56.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681075 E (Exact mapping: the two concepts are equivalent) Lysosomal alpha-D-mannosidase deficiency, infantile form ICD-10:E77.1 ICD-11:5C56.21 OMIM:248500 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309282 Alpha-mannosidosis, infantile form Clinical subtype ORPHA:309282 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Lysosomal alpha-D-mannosidase deficiency, adult form ICD-10:E77.1 ICD-11:5C56.21 OMIM:248500 UMLS:C5679974 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309288 Alpha-mannosidosis, adult form Clinical subtype ORPHA:309288 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679974 E (Exact mapping: the two concepts are equivalent) Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. Orphanet ICD-11:5C56.21 MedDRA:10058800 Autosomal recessive All ages Australia AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309294 Sialidosis Clinical group ORPHA:309294 ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10058800 E (Exact mapping: the two concepts are equivalent) GALNS deficiency Galactosamine-6-sulfatase deficiency MPS4A MPSIVA Morquio disease type A Mucopolysaccharidosis type IVA N-acetylgalactosamine-6-sulfate sulfatase deficiency ICD-10:E76.2 ICD-11:5C56.32 OMIM:253000 UMLS:C0086651 Autosomal recessive Childhood Australia AND has_birth_prevalence_average_value : 0.497 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 0.153 AND has_point_prevalence_range : 1-9 / 1 000 000 Brazil AND has_point_prevalence_average_value : 0.0848 AND has_point_prevalence_range : <1 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Arab Emirates AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 United Arab Emirates AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.029 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309297 Mucopolysaccharidosis type 4A Clinical subtype ORPHA:309297 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:253000 E (Exact mapping: the two concepts are equivalent) UMLS:C0086651 E (Exact mapping: the two concepts are equivalent) A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy. Orphanet ICD-10:Q23.0 ICD-11:LA8A.20 MedDRA:10010371 UMLS:C0152417 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3093 Congenital aortic valve stenosis ORPHA:3093 ICD-10:Q23.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8A.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10010371 E (Exact mapping: the two concepts are equivalent) UMLS:C0152417 E (Exact mapping: the two concepts are equivalent) Beta-D-galactosidase deficiency MPS4B MPSIVB Morquio disease type B Mucopolysaccharidosis type IVB ICD-10:E76.2 ICD-11:5C56.32 OMIM:253010 UMLS:C0086652 Autosomal recessive United States AND has_birth_prevalence_average_value : 0.004 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.001 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309310 Mucopolysaccharidosis type 4B Clinical subtype ORPHA:309310 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:253010 E (Exact mapping: the two concepts are equivalent) UMLS:C0086652 E (Exact mapping: the two concepts are equivalent) ICD-11:5C56.4 UMLS:C0342851 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309319 Disorder of sialic acid metabolism Category ORPHA:309319 ICD-11:5C56.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342851 E (Exact mapping: the two concepts are equivalent) ISSD ICD-10:E77.8 ICD-11:5C56.4 MedDRA:10067532 OMIM:269920 Autosomal recessive Antenatal Neonatal Sweden AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309324 Free sialic acid storage disease, infantile form Clinical subtype ORPHA:309324 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10067532 E (Exact mapping: the two concepts are equivalent) OMIM:269920 E (Exact mapping: the two concepts are equivalent) ICD-10:E77.8 ICD-11:5C56.4 OMIM:604369 UMLS:C5681076 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309331 Intermediate severe Salla disease Clinical subtype ORPHA:309331 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604369 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681076 E (Exact mapping: the two concepts are equivalent) ICD-10:E77.8 MedDRA:10067531 OMIM:604369 UMLS:C1096903 Autosomal recessive Infancy Sweden AND has_birth_prevalence_average_value : 1.59 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309334 Salla disease Clinical subtype ORPHA:309334 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10067531 E (Exact mapping: the two concepts are equivalent) OMIM:604369 E (Exact mapping: the two concepts are equivalent) UMLS:C1096903 E (Exact mapping: the two concepts are equivalent) UMLS:C5681077 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309337 Lysosomal glycogen storage disease Category ORPHA:309337 UMLS:C5681077 E (Exact mapping: the two concepts are equivalent) UMLS:C5681043 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309340 Disorder of lysosomal-related organelles Category ORPHA:309340 UMLS:C5681043 E (Exact mapping: the two concepts are equivalent) ICD-11:5C54.0 UMLS:C5681044 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309347 Disorder of protein N-glycosylation Category ORPHA:309347 ICD-11:5C54.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681044 E (Exact mapping: the two concepts are equivalent) ICD-11:5C54.1 UMLS:C5681041 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309447 Disorder of protein O-glycosylation Category ORPHA:309447 ICD-11:5C54.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681041 E (Exact mapping: the two concepts are equivalent) UMLS:C5681042 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309450 Disorder of O-xylosylglycan synthesis Category ORPHA:309450 UMLS:C5681042 E (Exact mapping: the two concepts are equivalent) UMLS:C5681047 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309458 Disorder of O-N-acetylgalactosaminylglycan synthesis Category ORPHA:309458 UMLS:C5681047 E (Exact mapping: the two concepts are equivalent) UMLS:C5681048 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis Category ORPHA:309463 UMLS:C5681048 E (Exact mapping: the two concepts are equivalent) UMLS:C5681045 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309469 Disorder of O-mannosylglycan synthesis Category ORPHA:309469 UMLS:C5681045 E (Exact mapping: the two concepts are equivalent) Atypical RTT Rett syndrome variant A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe. Orphanet ICD-10:F84.2 ICD-11:LD90.Y MeSH:C567576 OMIM:300672 OMIM:312750 OMIM:613454 OMIM:617903 OMIM:617904 UMLS:C2748910 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3095 Atypical Rett syndrome ORPHA:3095 ICD-10:F84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567576 E (Exact mapping: the two concepts are equivalent) OMIM:300672 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:312750 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613454 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617903 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:617904 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2748910 E (Exact mapping: the two concepts are equivalent) UMLS:C5681046 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309505 Disorder of fucoglycosan synthesis Category ORPHA:309505 UMLS:C5681046 E (Exact mapping: the two concepts are equivalent) Disorder of glycosphingolipid and GPI-anchored proteins glycosylation UMLS:C5679954 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Category ORPHA:309515 UMLS:C5679954 E (Exact mapping: the two concepts are equivalent) ICD-11:5C54.2 UMLS:C5681039 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309526 Disorder of multiple glycosylation Category ORPHA:309526 ICD-11:5C54.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681039 E (Exact mapping: the two concepts are equivalent) Defect in COG complex UMLS:C5679953 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309568 Defect in conserved oligomeric Golgi complex Category ORPHA:309568 UMLS:C5679953 E (Exact mapping: the two concepts are equivalent) A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated. Orphanet ICD-10:G93.7 ICD-11:8E46 MeSH:D012202 MedDRA:10039012 UMLS:C0035400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3096 Reye syndrome ORPHA:3096 ICD-10:G93.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E46 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012202 E (Exact mapping: the two concepts are equivalent) MedDRA:10039012 E (Exact mapping: the two concepts are equivalent) UMLS:C0035400 E (Exact mapping: the two concepts are equivalent) Meacham-Winn-Culler syndrome Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome A rare syndrome with 46,XY difference of sex development characterized by genital abnormalities, congenital cardiac malformations and diaphragmatic abnormalities. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. Genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. Rhabdomyomatous dysplasia of the lungs can also be observed. It is a neonatally lethal condition. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C538162 OMIM:608978 UMLS:C1837026 Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3097 Meacham syndrome ORPHA:3097 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538162 E (Exact mapping: the two concepts are equivalent) OMIM:608978 E (Exact mapping: the two concepts are equivalent) UMLS:C1837026 E (Exact mapping: the two concepts are equivalent) UMLS:C5681038 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309778 Defect in V-ATPase Category ORPHA:309778 UMLS:C5681038 E (Exact mapping: the two concepts are equivalent) ICD-10:Q77.3 ICD-11:LD24.04 MeSH:C531651 OMIM:215100 UMLS:C1859133 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309789 Rhizomelic chondrodysplasia punctata type 1 Etiological subtype ORPHA:309789 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C531651 E (Exact mapping: the two concepts are equivalent) OMIM:215100 E (Exact mapping: the two concepts are equivalent) UMLS:C1859133 E (Exact mapping: the two concepts are equivalent) ICD-10:Q77.3 ICD-11:LD24.04 MeSH:C537607 OMIM:222765 UMLS:C1857242 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309796 Rhizomelic chondrodysplasia punctata type 2 Etiological subtype ORPHA:309796 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537607 E (Exact mapping: the two concepts are equivalent) OMIM:222765 E (Exact mapping: the two concepts are equivalent) UMLS:C1857242 E (Exact mapping: the two concepts are equivalent) Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. Orphanet ICD-10:Q87.1 MeSH:C537611 OMIM:268250 UMLS:C4749613 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3098 Rhizomelic syndrome, Urbach type ORPHA:3098 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537611 E (Exact mapping: the two concepts are equivalent) OMIM:268250 E (Exact mapping: the two concepts are equivalent) UMLS:C4749613 E (Exact mapping: the two concepts are equivalent) ICD-10:Q77.3 ICD-11:LD24.04 MeSH:C537608 OMIM:600121 UMLS:C1838612 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309803 Rhizomelic chondrodysplasia punctata type 3 Etiological subtype ORPHA:309803 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537608 E (Exact mapping: the two concepts are equivalent) OMIM:600121 E (Exact mapping: the two concepts are equivalent) UMLS:C1838612 E (Exact mapping: the two concepts are equivalent) ICD-11:5C57.1 UMLS:C5681040 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation Category ORPHA:309810 ICD-11:5C57.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681040 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309813 Disorder of porphyrin and heme metabolism Category ORPHA:309813 ICD-11:5C58.0 UMLS:C0349427 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309816 Disorder of bilirubin metabolism and excretion Category ORPHA:309816 ICD-11:5C58.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0349427 E (Exact mapping: the two concepts are equivalent) ICD-11:5C59.01 UMLS:C5681034 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309819 Disorder of pterin metabolism Category ORPHA:309819 ICD-11:5C59.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681034 E (Exact mapping: the two concepts are equivalent) UMLS:C5681033 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309824 Disorder of metabolite absorption and transport Category ORPHA:309824 UMLS:C5681033 E (Exact mapping: the two concepts are equivalent) ICD-11:5C63 UMLS:C5681037 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309827 Disorder of vitamin and non-protein cofactor absorption and transport Category ORPHA:309827 ICD-11:5C63 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681037 E (Exact mapping: the two concepts are equivalent) ICD-11:5C59.00 UMLS:C0342685 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309830 Disorder of catecholamine synthesis Category ORPHA:309830 ICD-11:5C59.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342685 E (Exact mapping: the two concepts are equivalent) UMLS:C5681036 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309833 Disorder of other vitamins and cofactors metabolism and transport Category ORPHA:309833 UMLS:C5681036 E (Exact mapping: the two concepts are equivalent) ICD-11:5C64 UMLS:C5681035 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309836 Disorder of mineral absorption and transport Category ORPHA:309836 ICD-11:5C64 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681035 E (Exact mapping: the two concepts are equivalent) ICD-10:E83.0 ICD-11:5C64.0 MedDRA:10061091 UMLS:C0012714 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309839 Disorder of copper metabolism Category ORPHA:309839 ICD-10:E83.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C64.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10061091 E (Exact mapping: the two concepts are equivalent) UMLS:C0012714 E (Exact mapping: the two concepts are equivalent) ICD-10:E83.1 UMLS:C5681031 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309842 Disorder of iron metabolism and transport Category ORPHA:309842 ICD-10:E83.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681031 E (Exact mapping: the two concepts are equivalent) ICD-10:E83.2 MedDRA:10048260 UMLS:C0268085 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309845 Disorder of zinc metabolism and transport Category ORPHA:309845 ICD-10:E83.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10048260 E (Exact mapping: the two concepts are equivalent) UMLS:C0268085 E (Exact mapping: the two concepts are equivalent) ICD-10:E83.4 UMLS:C5681030 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309848 Disorder of magnesium transport Category ORPHA:309848 ICD-10:E83.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681030 E (Exact mapping: the two concepts are equivalent) UMLS:C5681032 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309851 Disorder of manganese transport Category ORPHA:309851 UMLS:C5681032 E (Exact mapping: the two concepts are equivalent) A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary. Orphanet ICD-10:E88.8 MeSH:C548016 OMIM:613280 UMLS:C2750442 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome ORPHA:309854 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C548016 E (Exact mapping: the two concepts are equivalent) OMIM:613280 E (Exact mapping: the two concepts are equivalent) UMLS:C2750442 E (Exact mapping: the two concepts are equivalent) Acute rheumatic fever Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. Orphanet ICD-10:I00 ICD-10:I01.0 ICD-10:I01.1 ICD-10:I01.2 ICD-10:I01.8 ICD-10:I01.9 ICD-11:1B40 ICD-11:1B41 MeSH:D012213 MedDRA:10039054 OMIM:268240 UMLS:C0035436 Not applicable Childhood Australia AND has_annual_incidence_average_value : 100.0 AND has_annual_incidence_range : >1 / 1000 Canada AND has_annual_incidence_average_value : 12.5 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 India AND has_annual_incidence_average_value : 30.0 AND has_annual_incidence_range : 1-5 / 10 000 Latin America AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 Mexico AND has_annual_incidence_average_value : 100.0 AND has_annual_incidence_range : >1 / 1000 New Zealand AND has_annual_incidence_average_value : 7.6 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 12.5 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3099 Rheumatic fever ORPHA:3099 ICD-10:I00 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:I01.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:I01.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:I01.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:I01.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:I01.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B40 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B41 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012213 E (Exact mapping: the two concepts are equivalent) MedDRA:10039054 E (Exact mapping: the two concepts are equivalent) OMIM:268240 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0035436 E (Exact mapping: the two concepts are equivalent) Alpha-ketoglutarate dehydrogenase deficiency A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures. Orphanet ICD-10:E88.8 ICD-11:5C53.1 MeSH:C536582 OMIM:203740 UMLS:C2752074 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31 Oxoglutaric aciduria ORPHA:31 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536582 E (Exact mapping: the two concepts are equivalent) OMIM:203740 E (Exact mapping: the two concepts are equivalent) UMLS:C2752074 E (Exact mapping: the two concepts are equivalent) Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). Orphanet ICD-11:8A61.40 MeSH:D020195 UMLS:C0270857 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=310 Reflex epilepsy Clinical group ORPHA:310 ICD-11:8A61.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020195 E (Exact mapping: the two concepts are equivalent) UMLS:C0270857 E (Exact mapping: the two concepts are equivalent) 10q24.1 DKFZP564D116 JBTS18 TECT3 ClinVar:TCTN3 Ensembl:ENSG00000119977 Genatlas:TCTN3 HGNC:24519 OMIM:613847 Reactome:Q6NUS6 SwissProt:Q6NUS6 TCTN3 tectonic family member 3 ICD-11:4A20 MeSH:D000163 UMLS:C0001175 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=310050 Acquired immunodeficiency Category ORPHA:310050 ICD-11:4A20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000163 E (Exact mapping: the two concepts are equivalent) UMLS:C0001175 E (Exact mapping: the two concepts are equivalent) Myotonia-intellectual disability-skeletal anomalies syndrome Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:Q87.8 MeSH:C535675 OMIM:255710 UMLS:C2930978 Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3101 Richieri Costa-da Silva syndrome ORPHA:3101 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535675 E (Exact mapping: the two concepts are equivalent) OMIM:255710 E (Exact mapping: the two concepts are equivalent) UMLS:C2930978 E (Exact mapping: the two concepts are equivalent) 1q42.13 ClinVar:WNT3A Ensembl:ENSG00000154342 Genatlas:WNT3A HGNC:15983 OMIM:606359 Reactome:P56704 SwissProt:P56704 WNT3A Wnt family member 3A 10q21.1 DKK-1 SK ClinVar:DKK1 Ensembl:ENSG00000107984 Genatlas:DKK1 HGNC:2891 OMIM:605189 Reactome:O94907 SwissProt:O94907 DKK1 dickkopf WNT signaling pathway inhibitor 1 Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C535677 OMIM:268305 UMLS:C1849348 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3102 Richieri Costa-Pereira syndrome ORPHA:3102 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535677 E (Exact mapping: the two concepts are equivalent) OMIM:268305 E (Exact mapping: the two concepts are equivalent) UMLS:C1849348 E (Exact mapping: the two concepts are equivalent) 15q22.31 HsT17432 ClinVar:SMAD6 Ensembl:ENSG00000137834 Genatlas:SMAD6 HGNC:6772 OMIM:602931 Reactome:O43541 SwissProt:O43541 SMAD6 SMAD family member 6 Pseudothalidomide syndrome Roberts-SC phocomelia syndrome SC phocomelia SC pseudothalidomide syndrome Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. Orphanet ICD-10:Q73.8 ICD-11:LD2F.1Y MeSH:C535687 MedDRA:10084326 OMIM:268300 UMLS:C0392475 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3103 Roberts syndrome ORPHA:3103 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535687 E (Exact mapping: the two concepts are equivalent) MedDRA:10084326 E (Exact mapping: the two concepts are equivalent) OMIM:268300 E (Exact mapping: the two concepts are equivalent) UMLS:C0392475 E (Exact mapping: the two concepts are equivalent) Pierre Robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q87.0 MeSH:C535688 OMIM:172880 UMLS:C4749398 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3104 Robin sequence-oligodactyly syndrome ORPHA:3104 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535688 E (Exact mapping: the two concepts are equivalent) OMIM:172880 E (Exact mapping: the two concepts are equivalent) UMLS:C4749398 E (Exact mapping: the two concepts are equivalent) 4q21.1 AI2A4 FLJ23657 amelogenesis imperfecta type IIA4 ClinVar:C4orf26 Ensembl:ENSG00000174792 Genatlas:C4orf26 HGNC:26300 OMIM:614829 SwissProt:Q17RF5 ODAPH odontogenesis associated phosphoprotein 4p15.2 CBF1 IGKJRB KBF2 RBP-J RBPJK SUH suppressor of hairless homolog (Drosophila) ClinVar:RBPJ Ensembl:ENSG00000168214 Genatlas:RBPJ HGNC:5724 OMIM:147183 Reactome:Q06330 SwissProt:Q06330 RBPJ recombination signal binding protein for immunoglobulin kappa J region 17p13.2 ClinVar:PFN1 Ensembl:ENSG00000108518 Genatlas:PFN1 HGNC:8881 OMIM:176610 Reactome:P07737 SwissProt:P07737 PFN1 profilin 1 FHHNC without severe ocular involvement HOMG3 Renal hypomagnesemia type 3 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. Orphanet ICD-10:E83.4 ICD-11:5C64.41 OMIM:248250 UMLS:C4511528 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 110.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Clinical subtype ORPHA:31043 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248250 E (Exact mapping: the two concepts are equivalent) UMLS:C4511528 E (Exact mapping: the two concepts are equivalent) 17p11.2 KIR2.6 TTPP2 ClinVar:KCNJ18 Ensembl:ENSG00000260458 Genatlas:KCNJ18 HGNC:39080 OMIM:613236 SwissProt:B7U540 KCNJ18 potassium inwardly rectifying channel subfamily J member 18 16p13.3 FLJ34512 ClinVar:CCDC78 Ensembl:ENSG00000162004 Genatlas:CCDC78 HGNC:14153 OMIM:614666 SwissProt:A2IDD5 CCDC78 coiled-coil domain containing 78 3p22.1 AGO61 FLJ14566 protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2 ClinVar:POMGNT2 Ensembl:ENSG00000144647 Genatlas:POMGNT2 HGNC:25902 OMIM:614828 Reactome:Q8NAT1 SwissProt:Q8NAT1 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Saal-Greenstein syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Peters plus syndrome Robinow-like syndrome ORPHA:3105 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Saethre-Chotzen syndrome MeSH:C537183 OMIM:180750 UMLS:C1867146 Robinow-Sorauf syndrome ORPHA:3106 MeSH:C537183 E (Exact mapping: the two concepts are equivalent) OMIM:180750 E (Exact mapping: the two concepts are equivalent) UMLS:C1867146 E (Exact mapping: the two concepts are equivalent) The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Orphanet ICD-10:Q87.1 ICD-11:LD24.A OMIM:180700 OMIM:616331 OMIM:616894 UMLS:C5200540 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3107 Autosomal dominant Robinow syndrome Clinical subtype ORPHA:3107 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:180700 E (Exact mapping: the two concepts are equivalent) OMIM:616331 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616894 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5200540 E (Exact mapping: the two concepts are equivalent) 1p36.22 NMNAT PNAT1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 ClinVar:NMNAT1 Ensembl:ENSG00000173614 Genatlas:NMNAT1 HGNC:17877 OMIM:608700 Reactome:Q9HAN9 SwissProt:Q9HAN9 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 Xp11.4-p11.2 HGNC:8141 OPA2 optic atrophy 2 (obscure) MRKH syndrome Rokitansky syndrome A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Orphanet ICD-10:Q51.8 ICD-11:LB44.Y MedDRA:10065148 OMIM:277000 OMIM:601076 UMLS:C1698581 Autosomal dominant Not applicable Adolescent Antenatal Worldwide AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3109 Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109 ICD-10:Q51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB44.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065148 E (Exact mapping: the two concepts are equivalent) OMIM:277000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601076 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1698581 E (Exact mapping: the two concepts are equivalent) Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. Orphanet ICD-10:L98.8 MeSH:C535870 OMIM:180730 UMLS:C1867147 Unknown Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3110 Rombo syndrome ORPHA:3110 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535870 E (Exact mapping: the two concepts are equivalent) OMIM:180730 E (Exact mapping: the two concepts are equivalent) UMLS:C1867147 E (Exact mapping: the two concepts are equivalent) 1q41 DKFZp547M236 ZNT10 ZNT8 ZRC1 Zinc transporter 8 ZnT-10 zinc resistance conferring homolog (S. cerevisiae) zinc transporter 10 zinc transporter 8 ClinVar:SLC30A10 Ensembl:ENSG00000196660 Genatlas:SLC30A10 HGNC:25355 IUPHAR:1130 OMIM:611146 Reactome:Q6XR72 SwissProt:Q6XR72 SLC30A10 solute carrier family 30 member 10 17q21.33 CD49c GAP-B3 VCA-2 VLA3a alpha 3 subunit of VLA-3 receptor antigen CD49C galactoprotein b3 very late activation receptor subunit alpha-3 ClinVar:ITGA3 Ensembl:ENSG00000005884 Genatlas:ITGA3 HGNC:6139 IUPHAR:2442 OMIM:605025 Reactome:P26006 SwissProt:P26006 ITGA3 integrin subunit alpha 3 7p22.1 SPG48 zeta ClinVar:AP5Z1 Ensembl:ENSG00000242802 Genatlas:AP5Z1 HGNC:22197 OMIM:613653 SwissProt:O43299 AP5Z1 adaptor related protein complex 5 subunit zeta 1 10q24.32 ClinVar:CNNM2 Ensembl:ENSG00000148842 Genatlas:CNNM2 HGNC:103 OMIM:607803 Reactome:Q9H8M5 SwissProt:Q9H8M5 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 Hyperbilirubinemia, Rotor type A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. Orphanet ICD-10:E80.6 ICD-11:5C58.0Y MedDRA:10039234 OMIM:237450 UMLS:C0220991 Autosomal recessive All ages Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3111 Rotor syndrome ORPHA:3111 ICD-10:E80.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10039234 E (Exact mapping: the two concepts are equivalent) OMIM:237450 E (Exact mapping: the two concepts are equivalent) UMLS:C0220991 E (Exact mapping: the two concepts are equivalent) 17q21.32 ClinVar:HOXB1 Ensembl:ENSG00000120094 Genatlas:HOXB1 HGNC:5111 OMIM:142968 Reactome:P14653 SwissProt:P14653 HOXB1 homeobox B1 12q21.31 ClinVar:ALX1 Ensembl:ENSG00000180318 Genatlas:ALX1 HGNC:1494 OMIM:601527 Reactome:Q15699 SwissProt:Q15699 ALX1 ALX homeobox 1 11q25 JAM-3 JAM-C JAMC junctional adhesion molecule C ClinVar:JAM3 Ensembl:ENSG00000166086 Genatlas:JAM3 HGNC:15532 OMIM:606871 Reactome:Q9BX67 SwissProt:Q9BX67 JAM3 junctional adhesion molecule 3 DFSP Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). Orphanet ICD-10:C49.9 ICD-11:2B53.Y MeSH:C538219 MedDRA:10057070 OMIM:607907 UMLS:C0392784 Not applicable All ages Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31112 Dermatofibrosarcoma protuberans ORPHA:31112 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B53.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538219 E (Exact mapping: the two concepts are equivalent) MedDRA:10057070 E (Exact mapping: the two concepts are equivalent) OMIM:607907 E (Exact mapping: the two concepts are equivalent) UMLS:C0392784 E (Exact mapping: the two concepts are equivalent) 11q13.3 Fas-associating death domain-containing protein Fas-associating protein with death domain GIG3 Growth-inhibiting gene 3 protein MORT1 Mediator of receptor-induced toxicity growth-inhibiting gene 3 protein mediator of receptor-induced toxicity ClinVar:FADD Ensembl:ENSG00000168040 Genatlas:FADD HGNC:3573 OMIM:602457 Reactome:Q13158 SwissProt:Q13158 FADD Fas associated via death domain 1p36.33-p36.32 Sloan-Kettering Institute proto-oncogene ClinVar:SKI Ensembl:ENSG00000157933 Genatlas:SKI HGNC:10896 OMIM:164780 Reactome:P12755 SwissProt:P12755 SKI SKI proto-oncogene 1p36.31 AKR6A5 HKvbeta2.1 HKvbeta2.2 KCNA2B ClinVar:KCNAB2 Ensembl:ENSG00000069424 Genatlas:KCNAB2 HGNC:6229 OMIM:601142 Reactome:Q13303 SwissProt:Q13303 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Coxopodopatellar syndrome MeSH:C536307 UMLS:C1868581 Patella aplasia-coxa vara-tarsal synostosis syndrome ORPHA:3112 MeSH:C536307 E (Exact mapping: the two concepts are equivalent) UMLS:C1868581 E (Exact mapping: the two concepts are equivalent) 10p11.23 FLJ10486 SPAX4 TENT6 TUTase1 mtPAP ClinVar:MTPAP Ensembl:ENSG00000107951 Genatlas:MTPAP HGNC:25532 OMIM:613669 Reactome:Q9NVV4 SwissProt:Q9NVV4 MTPAP mitochondrial poly(A) polymerase 18q21.1 ClinVar:IER3IP1 Ensembl:ENSG00000134049 Genatlas:IER3IP1 HGNC:18550 OMIM:609382 Reactome:Q9Y5U9 SwissProt:Q9Y5U9 IER3IP1 immediate early response 3 interacting protein 1 2q14.3-q21.3 HGNC:39436 DYT21 dystonia 21, torsion (autosomal dominant) Xq28 CFAP39 PMCA3 Plasma membrane calcium-transporting ATPase 3 cilia and flagella associated protein 39 plasma membrane calcium-transporting ATPase 3 ClinVar:ATP2B3 Ensembl:ENSG00000067842 Genatlas:ATP2B3 HGNC:816 IUPHAR:845 OMIM:300014 Reactome:Q16720 SwissProt:Q16720 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-11:EA91.41 NON RARE IN EUROPE: Oral erosive lichen ORPHA:31142 ICD-11:EA91.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 4q31.1 DKFZP434G099 ClinVar:RAB33B Ensembl:ENSG00000172007 Genatlas:RAB33B HGNC:16075 OMIM:605950 Reactome:Q9H082 SwissProt:Q9H082 RAB33B RAB33B, member RAS oncogene family 4p16.3 ERIC-1 ERIC1 Tacc4 maskin ClinVar:TACC3 Ensembl:ENSG00000013810 Genatlas:TACC3 HGNC:11524 OMIM:605303 SwissProt:Q9Y6A5 TACC3 transforming acidic coiled-coil containing protein 3 8p11.22 ClinVar:TACC1 Ensembl:ENSG00000147526 Genatlas:TACC1 HGNC:11522 OMIM:605301 SwissProt:O75410 TACC1 transforming acidic coiled-coil containing protein 1 Hereditary areflexic dystasia, Roussy-Lévy type A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant. Orphanet ICD-10:G60.0 ICD-11:8C20.Y OMIM:180800 UMLS:C0205713 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3115 Roussy-Lévy syndrome ORPHA:3115 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:180800 E (Exact mapping: the two concepts are equivalent) UMLS:C0205713 E (Exact mapping: the two concepts are equivalent) ATP-binding cassette transporter A1 deficiency Analphalipoproteinemia A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease. Orphanet ICD-10:E78.6 ICD-11:5C81.0 MeSH:D013631 MedDRA:10051875 OMIM:205400 UMLS:C0039292 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 185.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31150 Tangier disease ORPHA:31150 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013631 E (Exact mapping: the two concepts are equivalent) MedDRA:10051875 E (Exact mapping: the two concepts are equivalent) OMIM:205400 E (Exact mapping: the two concepts are equivalent) UMLS:C0039292 E (Exact mapping: the two concepts are equivalent) ICD-11:5C81.0 MeSH:D052456 MedDRA:10065156 UMLS:C0473527 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31153 Hypoalphalipoproteinemia Clinical group ORPHA:31153 ICD-11:5C81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D052456 E (Exact mapping: the two concepts are equivalent) MedDRA:10065156 E (Exact mapping: the two concepts are equivalent) UMLS:C0473527 E (Exact mapping: the two concepts are equivalent) Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. Orphanet ICD-11:5C81.1 MeSH:D006995 UMLS:C0020597 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31154 Hypobetalipoproteinemia Clinical group ORPHA:31154 ICD-11:5C81.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006995 E (Exact mapping: the two concepts are equivalent) UMLS:C0020597 E (Exact mapping: the two concepts are equivalent) 10q11.22 ARA70 DKFZp762E1112 ELE1 PTC3 RET-activating gene ELE1 RFG ClinVar:NCOA4 Ensembl:ENSG00000266412 Genatlas:NCOA4 HGNC:7671 OMIM:601984 SwissProt:Q13772 NCOA4 nuclear receptor coactivator 4 8q24.12 ClinVar:COL14A1 Ensembl:ENSG00000187955 Genatlas:COL14A1 HGNC:2191 OMIM:120324 Reactome:Q05707 SwissProt:Q05707 COL14A1 collagen type XIV alpha 1 chain This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schinzel-Giedion syndrome OMIM:268650 UMLS:C3502049 Rudiger syndrome ORPHA:3118 OMIM:268650 E (Exact mapping: the two concepts are equivalent) UMLS:C3502049 E (Exact mapping: the two concepts are equivalent) BCIE Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous ichthyosis EHK EI Epidermolytic hyperkeratosis Ichthyosis hystrix Brocq type A rare keratinopathic ichthyosis (KPI) characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. Orphanet ICD-10:Q80.3 ICD-11:EC20.03 MeSH:D017488 OMIM:113800 OMIM:620150 UMLS:C0079153 Autosomal dominant Neonatal Denmark AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.4317 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=312 Autosomal dominant epidermolytic ichthyosis ORPHA:312 ICD-10:Q80.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC20.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017488 E (Exact mapping: the two concepts are equivalent) OMIM:113800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620150 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0079153 E (Exact mapping: the two concepts are equivalent) Burkholderia pseudomallei infection A tropical infectious disease caused by the Gram-negative bacterium <i>Burkholderia pseudomallei</i>, which is present in soil and water in tropical countries. Melioidosis can present itself in many ways, including pneumonia, sepsis and abscess formation. Orphanet ICD-10:A24.1 ICD-10:A24.2 ICD-10:A24.3 ICD-10:A24.4 ICD-11:1C42 MeSH:D008554 MedDRA:10069748 OMIM:615557 UMLS:C0025229 All ages Australia AND has_annual_incidence_average_value : 50.0 AND has_annual_incidence_range : 1-5 / 10 000 Thailand AND has_annual_incidence_average_value : 50.0 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31202 Melioidosis ORPHA:31202 ICD-10:A24.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A24.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A24.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A24.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008554 E (Exact mapping: the two concepts are equivalent) MedDRA:10069748 E (Exact mapping: the two concepts are equivalent) OMIM:615557 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0025229 E (Exact mapping: the two concepts are equivalent) Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection. Orphanet ICD-10:A43.0 ICD-10:A43.1 ICD-10:A43.8 ICD-10:A43.9 ICD-11:1C1B ICD-11:1C1B.0 ICD-11:1C1B.1 ICD-11:1C1B.Y MeSH:D009617 MedDRA:10029444 UMLS:C0028242 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31204 Nocardiosis ORPHA:31204 ICD-10:A43.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A43.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A43.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A43.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1B - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1B.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1B.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1B.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009617 E (Exact mapping: the two concepts are equivalent) MedDRA:10029444 E (Exact mapping: the two concepts are equivalent) UMLS:C0028242 E (Exact mapping: the two concepts are equivalent) Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by <i>Streptobacillus moniliformis</i> or <i>Spirillum minus</i>-infected rats and characterized by high fever, a rash on the extremities, and arthralgia. Orphanet ICD-10:A25.0 ICD-10:A25.1 ICD-10:A25.9 ICD-11:1B90 MeSH:D011906 MedDRA:10037904 UMLS:C0034686 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31205 Rat-bite fever ORPHA:31205 ICD-10:A25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A25.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B90 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011906 E (Exact mapping: the two concepts are equivalent) MedDRA:10037904 E (Exact mapping: the two concepts are equivalent) UMLS:C0034686 E (Exact mapping: the two concepts are equivalent) Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. Orphanet ICD-10:Q87.8 MeSH:C579395 OMIM:180870 UMLS:C0265248 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3121 Ruvalcaba syndrome ORPHA:3121 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C579395 E (Exact mapping: the two concepts are equivalent) OMIM:180870 E (Exact mapping: the two concepts are equivalent) UMLS:C0265248 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial sick sinus syndrome OBSOLETE: Sinus node disease-myopia syndrome ORPHA:3122 Brittle hair-mental deficiency syndrome Trichothiodystrophy type B This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy MeSH:C536320 OMIM:211390 UMLS:C0796271 Brittle hair syndrome, Sabinas type ORPHA:3123 MeSH:C536320 E (Exact mapping: the two concepts are equivalent) OMIM:211390 E (Exact mapping: the two concepts are equivalent) UMLS:C0796271 E (Exact mapping: the two concepts are equivalent) Hyperlysinemia type II Saccharopine dehydrogenase deficiency A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms. Orphanet ICD-10:E72.3 ICD-11:5C50.4 MeSH:C537218 OMIM:268700 UMLS:C0268556 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3124 Saccharopinuria ORPHA:3124 ICD-10:E72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537218 E (Exact mapping: the two concepts are equivalent) OMIM:268700 E (Exact mapping: the two concepts are equivalent) UMLS:C0268556 E (Exact mapping: the two concepts are equivalent) 16p11.2 ClinVar:BCKDK Ensembl:ENSG00000103507 Genatlas:BCKDK HGNC:16902 IUPHAR:1939 OMIM:614901 Reactome:O14874 SwissProt:O14874 BCKDK branched chain keto acid dehydrogenase kinase OBSOLETE: ACPS III OBSOLETE: ACPS with leg hypoplasia OBSOLETE: Acrocephalopolysyndactyly type 3 OBSOLETE: Sakati syndrome OBSOLETE: Sakati-Nyhan-Tisdale syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Sakati-Nyhan syndrome ORPHA:3128 Sarcosine dehydrogenase complex deficiency A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive. Orphanet ICD-10:E72.5 ICD-11:5C50.71 MeSH:C537236 MedDRA:10059299 OMIM:268900 UMLS:C0268563 Autosomal recessive All ages Specific population AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3129 Sarcosinemia ORPHA:3129 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537236 E (Exact mapping: the two concepts are equivalent) MedDRA:10059299 E (Exact mapping: the two concepts are equivalent) OMIM:268900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268563 E (Exact mapping: the two concepts are equivalent) LI A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma. Orphanet ICD-10:Q80.2 ICD-11:EC20.02 MeSH:D017490 MedDRA:10023686 OMIM:242300 OMIM:601277 OMIM:604777 OMIM:606545 OMIM:612281 OMIM:613943 OMIM:617571 Autosomal dominant Autosomal recessive Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313 Lamellar ichthyosis ORPHA:313 ICD-10:Q80.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017490 E (Exact mapping: the two concepts are equivalent) MedDRA:10023686 E (Exact mapping: the two concepts are equivalent) OMIM:242300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:601277 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604777 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606545 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612281 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613943 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617571 BTNT (ORPHAcode is broader than the targeted code used to represent it) Komuragaeri disease Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases. Orphanet ICD-10:M35.8 MeSH:C536616 MedDRA:10070579 OMIM:600705 UMLS:C1833454 Not applicable Adolescent Adult Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3130 Satoyoshi syndrome ORPHA:3130 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536616 E (Exact mapping: the two concepts are equivalent) MedDRA:10070579 E (Exact mapping: the two concepts are equivalent) OMIM:600705 E (Exact mapping: the two concepts are equivalent) UMLS:C1833454 E (Exact mapping: the two concepts are equivalent) Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Orphanet ICD-10:Q87.8 ICD-11:4A01.0Y MeSH:C536618 OMIM:251240 UMLS:C2931267 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3132 Say-Barber-Miller syndrome ORPHA:3132 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536618 E (Exact mapping: the two concepts are equivalent) OMIM:251240 E (Exact mapping: the two concepts are equivalent) UMLS:C2931267 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy OBSOLETE: Say-Field-Coldwell syndrome ORPHA:3133 A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Orphanet ICD-10:Q82.8 ICD-11:LD28.2 MeSH:C536625 OMIM:312830 UMLS:C1839321 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3134 SCARF syndrome ORPHA:3134 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536625 E (Exact mapping: the two concepts are equivalent) OMIM:312830 E (Exact mapping: the two concepts are equivalent) UMLS:C1839321 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Scheuermann juvenile kyphosis NON RARE IN EUROPE: Spinal osteochondrosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Scheuermann's disease ORPHA:3135 NAGA deficiency Schindler disease A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. Orphanet ICD-10:E77.1 ICD-11:5C56.21 OMIM:609241 OMIM:609242 Autosomal recessive Adult Childhood Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3137 Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609241 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609242 BTNT (ORPHAcode is broader than the targeted code used to represent it) AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome Autosomal recessive spastic ataxia type 5 SPAX5 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Orphanet ICD-10:G11.4 OMIM:614487 UMLS:C3280977 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome ORPHA:313772 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614487 E (Exact mapping: the two concepts are equivalent) UMLS:C3280977 E (Exact mapping: the two concepts are equivalent) 20p subtelomeric deletion syndrome Del(20)(p13) Monosomy 20p13 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. Orphanet ICD-10:Q93.5 UMLS:C4750789 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313781 20p13 microdeletion syndrome ORPHA:313781 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750789 E (Exact mapping: the two concepts are equivalent) Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. Orphanet ICD-10:Q87.8 MeSH:C567101 OMIM:251255 UMLS:C0796063 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313795 Jawad syndrome ORPHA:313795 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567101 E (Exact mapping: the two concepts are equivalent) OMIM:251255 E (Exact mapping: the two concepts are equivalent) UMLS:C0796063 E (Exact mapping: the two concepts are equivalent) Pallister ulnar-mammary syndrome Schinzel syndrome UMS A rare congenital anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common. Orphanet ICD-10:Q71.8 ICD-11:LD2F.1Y MeSH:C536937 MedDRA:10084409 OMIM:181450 UMLS:C1866994 Autosomal dominant Adolescent Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 128.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3138 Ulnar-mammary syndrome ORPHA:3138 ICD-10:Q71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536937 E (Exact mapping: the two concepts are equivalent) MedDRA:10084409 E (Exact mapping: the two concepts are equivalent) OMIM:181450 E (Exact mapping: the two concepts are equivalent) UMLS:C1866994 E (Exact mapping: the two concepts are equivalent) Optic nerve edema-splenomegaly syndrome ROSAH syndrome A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. Orphanet ICD-10:H35.8 OMIM:614979 UMLS:C4749914 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome ORPHA:313800 ICD-10:H35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614979 E (Exact mapping: the two concepts are equivalent) UMLS:C4749914 E (Exact mapping: the two concepts are equivalent) ALSP Autosomal dominant leukoencephalopathy with neuroaxonal spheroids FPSG Familial dementia, Neumann type Familial progressive subcortical gliosis GPSC HDLS Hereditary diffuse leukoencephalopathy with spheroids POLD Pigmentary orthochromatic leukodystrophy Subcortical gliosis of Neumann Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. Orphanet ICD-10:G93.4 MeSH:C580150 OMIM:221820 UMLS:C3711381 Autosomal dominant Adult Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ORPHA:313808 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C580150 E (Exact mapping: the two concepts are equivalent) OMIM:221820 E (Exact mapping: the two concepts are equivalent) UMLS:C3711381 E (Exact mapping: the two concepts are equivalent) 16q12.1 Early B-cell factor associated zinc finger protein Ebfaz JBTS19 KIAA0760 NPHP14 OAZ OLF-1/EBF associated zinc finger gene Roaz Smad- and Olf-interacting zinc finger protein Zfp104 early B-cell factor associated zinc finger protein hOAZ ClinVar:ZNF423 Ensembl:ENSG00000102935 Genatlas:ZNF423 HGNC:16762 OMIM:604557 SwissProt:Q2M1K9 ZNF423 zinc finger protein 423 11q23.3 KIAA1052 NPHP15 ClinVar:CEP164 Ensembl:ENSG00000110274 Genatlas:CEP164 HGNC:29182 OMIM:614848 Reactome:Q9UPV0 SwissProt:Q9UPV0 CEP164 centrosomal protein 164 CRMCC Cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. Orphanet ICD-10:H35.0 MeSH:C567401 OMIM:612199 OMIM:617341 UMLS:C2677299 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313838 Coats plus syndrome ORPHA:313838 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567401 E (Exact mapping: the two concepts are equivalent) OMIM:612199 E (Exact mapping: the two concepts are equivalent) OMIM:617341 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2677299 E (Exact mapping: the two concepts are equivalent) A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. Orphanet ICD-10:C10.9 OMIM:614564 UMLS:C5190630 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome ORPHA:313846 ICD-10:C10.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614564 E (Exact mapping: the two concepts are equivalent) UMLS:C5190630 E (Exact mapping: the two concepts are equivalent) A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. Orphanet ICD-10:E88.8 OMIM:614559 UMLS:C3281192 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313850 Infantile cerebellar-retinal degeneration ORPHA:313850 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614559 E (Exact mapping: the two concepts are equivalent) UMLS:C3281192 E (Exact mapping: the two concepts are equivalent) Perinatal lethal bent bone dysplasia FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated. Orphanet ICD-10:M85.8 OMIM:614592 UMLS:C4755261 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313855 FGFR2-related bent bone dysplasia ORPHA:313855 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614592 E (Exact mapping: the two concepts are equivalent) UMLS:C4755261 E (Exact mapping: the two concepts are equivalent) Del(12)(p12.1) Monosomy 12p12.1 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. Orphanet ICD-10:Q93.5 OMIM:616803 UMLS:C4755260 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313884 12p12.1 microdeletion syndrome Clinical subtype ORPHA:313884 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616803 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4755260 E (Exact mapping: the two concepts are equivalent) Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). Orphanet ICD-10:Q87.8 OMIM:616803 UMLS:C4749915 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313892 Developmental and speech delay due to SOX5 deficiency Clinical subtype ORPHA:313892 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616803 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4749915 E (Exact mapping: the two concepts are equivalent) Neonatal congenital pancreatic cyst True congenital pancreatic cyst A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease). Orphanet ICD-10:Q45.2 ICD-11:LB21.Y UMLS:C0341480 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313906 Congenital pancreatic cyst ORPHA:313906 ICD-10:Q45.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0341480 E (Exact mapping: the two concepts are equivalent) EBV-associated gastric carcinoma EBVaGC A rare form of gastric carcinoma characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis. Orphanet ICD-10:C16.0 ICD-10:C16.2 UMLS:C4274414 Multigenic/multifactorial Adult Elderly Worldwide AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313920 Epstein-Barr virus-associated gastric carcinoma ORPHA:313920 ICD-10:C16.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274414 E (Exact mapping: the two concepts are equivalent) Papular epidermal nevi with skyline basal cell layers syndrome PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported. Orphanet ICD-10:Q82.5 UMLS:C4749916 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313936 PENS syndrome ORPHA:313936 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749916 E (Exact mapping: the two concepts are equivalent) Dup(2)(q23.1) Trisomy 2q23.1 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. Orphanet ICD-10:Q92.3 OMIM:156200 UMLS:C4707847 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=313947 2q23.1 microduplication syndrome ORPHA:313947 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:156200 E (Exact mapping: the two concepts are equivalent) UMLS:C4707847 E (Exact mapping: the two concepts are equivalent) Leiner disease A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly <i>Staphylococcus aureus</i>, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation. Orphanet ICD-10:L21.1 ICD-11:EH40.2 OMIM:609536 UMLS:C5551904 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314 Erythroderma desquamativum ORPHA:314 ICD-10:L21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EH40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609536 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5551904 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Schizophrenia ORPHA:3140 Dinno syndrome Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. Orphanet ICD-10:Q87.8 UMLS:C4751075 No data available Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome ORPHA:314002 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751075 E (Exact mapping: the two concepts are equivalent) Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated. Orphanet ICD-10:H16.3 UMLS:C4751438 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314017 Idiopathic linear interstitial keratitis ORPHA:314017 ICD-10:H16.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751438 E (Exact mapping: the two concepts are equivalent) Familial fundic gland polyposis with gastric cancer GAPPS Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. Orphanet ICD-10:C16.9 OMIM:619182 UMLS:C1868001 Autosomal dominant Adult Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314022 Gastric adenocarcinoma and proximal polyposis of the stomach ORPHA:314022 ICD-10:C16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619182 E (Exact mapping: the two concepts are equivalent) UMLS:C1868001 E (Exact mapping: the two concepts are equivalent) High bone mass OI High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal. Orphanet ICD-10:Q78.0 UMLS:C5190607 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314029 High bone mass osteogenesis imperfecta ORPHA:314029 ICD-10:Q78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190607 E (Exact mapping: the two concepts are equivalent) Dup(7)(p22.1) Trisomy 7p22.1 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. Orphanet ICD-10:Q92.3 UMLS:C4707093 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314034 7p22.1 microduplication syndrome ORPHA:314034 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707093 E (Exact mapping: the two concepts are equivalent) A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus). Orphanet ICD-10:Q87.8 UMLS:C5190606 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome ORPHA:314041 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190606 E (Exact mapping: the two concepts are equivalent) COXPD12 Combined oxidative phosphorylation defect type 12 LTBL A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. Orphanet ICD-10:E88.8 OMIM:614924 UMLS:C4706421 No data available Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ORPHA:314051 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614924 E (Exact mapping: the two concepts are equivalent) UMLS:C4706421 E (Exact mapping: the two concepts are equivalent) APS type 2 APS2 Autoimmune polyendocrine syndrome type 2 Autoimmune polyglandular syndrome type 2 Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome Schmidt syndrome A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present. Orphanet ICD-10:E31.0 ICD-11:5B00 OMIM:269200 UMLS:C0085860 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3143 Autoimmune polyendocrinopathy type 2 ORPHA:3143 ICD-10:E31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5B00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:269200 E (Exact mapping: the two concepts are equivalent) UMLS:C0085860 E (Exact mapping: the two concepts are equivalent) A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated. Orphanet ICD-10:P78.3 OMIM:614616 UMLS:C5191644 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity ORPHA:314373 ICD-10:P78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614616 E (Exact mapping: the two concepts are equivalent) UMLS:C5191644 E (Exact mapping: the two concepts are equivalent) Meconium ileus due to guanylate cyclase 2C deficiency Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the <i>GUCY2C</i> gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. Orphanet ICD-10:P76.0 OMIM:614665 UMLS:C4518781 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency ORPHA:314376 ICD-10:P76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614665 E (Exact mapping: the two concepts are equivalent) UMLS:C4518781 E (Exact mapping: the two concepts are equivalent) Familial dysautonomia with contractures HSAN6 Hereditary sensory and autonomic neuropathy type VI A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy. Orphanet ICD-10:G60.8 OMIM:614653 UMLS:C3539003 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314381 Hereditary sensory and autonomic neuropathy type 6 ORPHA:314381 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614653 E (Exact mapping: the two concepts are equivalent) UMLS:C3539003 E (Exact mapping: the two concepts are equivalent) Dup(X)(q12-q13.3) Kaya-Prontera syndrome Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. Orphanet ICD-10:Q99.8 UMLS:C4707094 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314389 Xq12-q13.3 duplication syndrome ORPHA:314389 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707094 E (Exact mapping: the two concepts are equivalent) SOFT syndrome A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. Orphanet ICD-10:Q87.1 OMIM:614813 UMLS:C3542022 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome ORPHA:314394 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614813 E (Exact mapping: the two concepts are equivalent) UMLS:C3542022 E (Exact mapping: the two concepts are equivalent) Autosomal dominant aplastic anemia and myelodysplasia A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Orphanet ICD-10:D61.0 OMIM:614675 UMLS:C4755259 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314399 Autosomal dominant aplasia and myelodysplasia ORPHA:314399 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614675 E (Exact mapping: the two concepts are equivalent) UMLS:C4755259 E (Exact mapping: the two concepts are equivalent) Chondrodysplasia with snail-like pelvis SLC35D1-CDG Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C536637 OMIM:269250 UMLS:C0432194 Autosomal recessive Antenatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3144 Schneckenbecken dysplasia ORPHA:3144 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536637 E (Exact mapping: the two concepts are equivalent) OMIM:269250 E (Exact mapping: the two concepts are equivalent) UMLS:C0432194 E (Exact mapping: the two concepts are equivalent) ADCA-DN syndrome Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Orphanet ICD-10:G11.2 OMIM:604121 UMLS:C4302668 Autosomal dominant Not applicable Adult Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604121 E (Exact mapping: the two concepts are equivalent) UMLS:C4302668 E (Exact mapping: the two concepts are equivalent) A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common. Orphanet ICD-10:D16.4 ICD-10:D16.5 ICD-11:2B5J ICD-11:2E83.1 ICD-11:XH1SV4 ICD-11:XH96J9 MeSH:D000564 MedDRA:10066796 UMLS:C0002448 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314419 Ameloblastoma ORPHA:314419 ICD-10:D16.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:D16.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B5J - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1SV4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH96J9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000564 E (Exact mapping: the two concepts are equivalent) MedDRA:10066796 E (Exact mapping: the two concepts are equivalent) UMLS:C0002448 E (Exact mapping: the two concepts are equivalent) A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs. Orphanet ICD-10:C41.1 ICD-11:2B5J MedDRA:10083863 UMLS:C1314678 Not applicable All ages Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314422 Ameloblastic carcinoma ORPHA:314422 ICD-10:C41.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B5J - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10083863 E (Exact mapping: the two concepts are equivalent) UMLS:C1314678 E (Exact mapping: the two concepts are equivalent) UMLS:C5681049 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314425 Rare odontogenic tumor Category ORPHA:314425 UMLS:C5681049 E (Exact mapping: the two concepts are equivalent) Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent. Orphanet ICD-10:K43.6 UMLS:C4751074 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314432 Spigelian hernia-cryptorchidism syndrome ORPHA:314432 ICD-10:K43.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751074 E (Exact mapping: the two concepts are equivalent) Demons-Meigs syndrome Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss. Orphanet ICD-10:D27 ICD-11:2F32.2 MeSH:D008539 MedDRA:10027139 UMLS:C0025184 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314451 Meigs syndrome ORPHA:314451 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F32.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008539 E (Exact mapping: the two concepts are equivalent) MedDRA:10027139 E (Exact mapping: the two concepts are equivalent) UMLS:C0025184 E (Exact mapping: the two concepts are equivalent) Pseudo-Demons-Meigs syndrome A rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss. Orphanet ICD-10:D39.1 UMLS:C5190824 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314459 Pseudo-Meigs syndrome ORPHA:314459 ICD-10:D39.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190824 E (Exact mapping: the two concepts are equivalent) Atypical Demons-Meigs syndrome Incomplete Meigs syndrome A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor. Orphanet ICD-10:D27 UMLS:C5190605 Not applicable Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314466 Atypical Meigs syndrome ORPHA:314466 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190605 E (Exact mapping: the two concepts are equivalent) A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses. Orphanet ICD-10:D27 ICD-11:2F32.1 MeSH:C562391 MedDRA:10064257 UMLS:C0149951 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314473 Ovarian fibroma ORPHA:314473 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F32.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562391 E (Exact mapping: the two concepts are equivalent) MedDRA:10064257 E (Exact mapping: the two concepts are equivalent) UMLS:C0149951 E (Exact mapping: the two concepts are equivalent) Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). Orphanet ICD-10:D27 ICD-11:2F32.Y UMLS:C4707356 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314478 Ovarian fibrothecoma ORPHA:314478 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F32.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707356 E (Exact mapping: the two concepts are equivalent) Autosomal recessive distal spinal muscular atrophy type 5 Young adult-onset dHMN dSMA5 Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. Orphanet ICD-10:G12.2 OMIM:614881 OMIM:619216 UMLS:C4749918 Autosomal recessive Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314485 Young adult-onset distal hereditary motor neuropathy ORPHA:314485 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614881 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619216 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749918 E (Exact mapping: the two concepts are equivalent) Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:N25.1 MeSH:C535949 OMIM:221995 UMLS:C2931070 Infancy Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome ORPHA:3145 ICD-10:N25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535949 E (Exact mapping: the two concepts are equivalent) OMIM:221995 E (Exact mapping: the two concepts are equivalent) UMLS:C2931070 E (Exact mapping: the two concepts are equivalent) Hamamy syndrome A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. Orphanet ICD-10:Q87.5 MeSH:C566988 OMIM:611174 UMLS:C1970027 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566988 E (Exact mapping: the two concepts are equivalent) OMIM:611174 E (Exact mapping: the two concepts are equivalent) UMLS:C1970027 E (Exact mapping: the two concepts are equivalent) PPAOS Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time. Orphanet ICD-10:G31.8 Unknown Adult Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314566 Primary progressive apraxia of speech ORPHA:314566 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. Orphanet ICD-10:I67.8 UMLS:C4749919 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ORPHA:314572 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749919 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature. Orphanet ICD-10:Q87.8 UMLS:C4751073 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome ORPHA:314575 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751073 E (Exact mapping: the two concepts are equivalent) A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:614846 UMLS:C4749920 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314585 15q overgrowth syndrome ORPHA:314585 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614846 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749920 E (Exact mapping: the two concepts are equivalent) Distal tetrasomy 15q Tetrasomy 15(q25-qter) Tetrasomy 15q26 Triplication 15q25-qter Triplication 15q26 ICD-10:Q99.8 OMIM:614846 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314588 Distal triplication 15q syndrome Etiological subtype ORPHA:314588 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614846 E (Exact mapping: the two concepts are equivalent) Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Orphanet ICD-10:Q04.8 MeSH:C535459 OMIM:604213 UMLS:C1858695 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314597 Chudley-McCullough syndrome ORPHA:314597 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535459 E (Exact mapping: the two concepts are equivalent) OMIM:604213 E (Exact mapping: the two concepts are equivalent) UMLS:C1858695 E (Exact mapping: the two concepts are equivalent) ARSAL Autosomal recessive spastic ataxia type 3 SPAX3 A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy. Orphanet ICD-10:E88.8 MeSH:C566956 OMIM:611390 UMLS:C1969645 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 54.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314603 Autosomal recessive spastic ataxia with leukoencephalopathy ORPHA:314603 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566956 E (Exact mapping: the two concepts are equivalent) OMIM:611390 E (Exact mapping: the two concepts are equivalent) UMLS:C1969645 E (Exact mapping: the two concepts are equivalent) A rare neoplastic disorder characterized by benign metastatic masses increasing in size and number after chemotherapy for non-seminomatous germ cell tumors of testis or ovary. It may present at any time after chemotherapy, with a median occurrence within 24 months after treatment completion. Per definition, the resected specimen exclusively contains mature teratoma components, and serum tumor markers have normalized. The retroperitoneum is the most common site, although almost any other localization has been reported. Increased tumor size may cause mechanical compression of vital organs, with renal dysfunction, bowel ischemia, and biliary obstruction as major complications. Orphanet ICD-10:D48.7 MedDRA:10085759 UMLS:C3891714 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314613 Growing teratoma syndrome ORPHA:314613 ICD-10:D48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10085759 E (Exact mapping: the two concepts are equivalent) UMLS:C3891714 E (Exact mapping: the two concepts are equivalent) DPG-plus syndrome Duplication of the pituitary gland-plus syndrome Hypophyseal duplication A rare midline cerebral malformation characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process). Orphanet ICD-10:Q89.2 UMLS:C4755258 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314621 Duplication of the pituitary gland ORPHA:314621 ICD-10:Q89.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755258 E (Exact mapping: the two concepts are equivalent) Neuronal ceroid lipofuscinosis type 11 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314629 CLN11 disease ORPHA:314629 ATP13A2-related juvenile neuronal ceroid lipofuscinosis Juvenile parkinsonism-neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 12 A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem. Orphanet ICD-10:E75.4 OMIM:606693 UMLS:C5230619 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314632 CLN12 disease ORPHA:314632 ICD-10:E75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606693 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5230619 E (Exact mapping: the two concepts are equivalent) COXPD10 Combined oxidative phosphorylation defect type 10 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Orphanet ICD-10:E88.8 OMIM:614702 UMLS:C4749921 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ORPHA:314637 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614702 E (Exact mapping: the two concepts are equivalent) UMLS:C4749921 E (Exact mapping: the two concepts are equivalent) A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Orphanet ICD-10:G11.0 OMIM:614756 UMLS:C4509917 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314647 Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614756 E (Exact mapping: the two concepts are equivalent) UMLS:C4509917 E (Exact mapping: the two concepts are equivalent) Autosomal dominant beta2-microglobulinic amyloidosis A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. Orphanet ICD-10:E85.1 ICD-11:5D00.3 OMIM:105200 UMLS:C4302669 Autosomal dominant Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314652 Variant ABeta2M amyloidosis ORPHA:314652 ICD-10:E85.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4302669 E (Exact mapping: the two concepts are equivalent) 5q31.3 microdeletion syndrome Del(5)(q31.3) Monosomy 5q31.3 ICD-10:Q93.5 OMIM:616158 UMLS:C4708510 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Etiological subtype ORPHA:314655 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616158 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4708510 E (Exact mapping: the two concepts are equivalent) A rare <i>PIK3CA</i>-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated. Orphanet ICD-10:Q87.3 UMLS:C5192432 Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia ORPHA:314662 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5192432 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIk CDG-IIk CDG2K Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k Congenital disorder of glycosylation type IIk TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene <i>TMEM165</i> (4q12). Orphanet ICD-10:E77.8 OMIM:614727 UMLS:C3553571 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314667 TMEM165-CDG ORPHA:314667 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614727 E (Exact mapping: the two concepts are equivalent) UMLS:C3553571 E (Exact mapping: the two concepts are equivalent) Van Maldergem syndrome Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. Orphanet ICD-10:Q87.8 MeSH:C536530 OMIM:601390 OMIM:615546 UMLS:C1832390 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314679 Cerebrofacioarticular syndrome ORPHA:314679 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536530 E (Exact mapping: the two concepts are equivalent) OMIM:601390 E (Exact mapping: the two concepts are equivalent) OMIM:615546 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1832390 E (Exact mapping: the two concepts are equivalent) Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. Orphanet ICD-10:C85.7 UMLS:C1332582 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314684 Primary bone lymphoma ORPHA:314684 ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1332582 E (Exact mapping: the two concepts are equivalent) CID due to STK4 deficiency A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency). Orphanet ICD-10:D81.8 OMIM:614868 UMLS:C4749922 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314689 Combined immunodeficiency due to STK4 deficiency ORPHA:314689 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614868 E (Exact mapping: the two concepts are equivalent) UMLS:C4749922 E (Exact mapping: the two concepts are equivalent) ICD-10:G93.0 ICD-11:8D68 UMLS:C0151860 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314697 Acquired porencephaly Etiological subtype ORPHA:314697 ICD-10:G93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8D68 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0151860 E (Exact mapping: the two concepts are equivalent) Systemic AL amyloidosis ICD-10:E85.0 ICD-10:E85.1 ICD-10:E85.2 ICD-10:E85.3 OMIM:254500 UMLS:C0281479 Not applicable Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314701 Primary systemic amyloidosis Clinical subtype ORPHA:314701 ICD-10:E85.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E85.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E85.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E85.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:254500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0281479 E (Exact mapping: the two concepts are equivalent) Localized AL amyloidosis ICD-10:E85.4 ICD-11:5D00.0 UMLS:C5679901 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314709 Primary localized amyloidosis Clinical subtype ORPHA:314709 ICD-10:E85.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679901 E (Exact mapping: the two concepts are equivalent) A rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities. Orphanet ICD-10:Q28.8 OMIM:614437 UMLS:C5190604 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718 ICD-10:Q28.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614437 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190604 E (Exact mapping: the two concepts are equivalent) Dentin dysplasia type 1 with microdontia and shape anomalies A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated. Orphanet ICD-10:K00.5 OMIM:125400 UMLS:C5190802 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314721 Atypical dentin dysplasia due to SMOC2 deficiency Clinical subtype ORPHA:314721 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:125400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190802 E (Exact mapping: the two concepts are equivalent) 14q11.2 MT1-MMP membrane type 1 metalloprotease membrane type 1-matrix metalloproteinase ClinVar:MMP14 Ensembl:ENSG00000157227 Genatlas:MMP14 HGNC:7160 IUPHAR:1638 OMIM:600754 Reactome:P50281 SwissProt:P50281 MMP14 matrix metallopeptidase 14 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314749 Rare disease with adrenal Cushing syndrome as a major feature Category ORPHA:314749 Endocrine active pituitary adenoma Secreting pituitary adenoma UMLS:C0854486 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314753 Functioning pituitary adenoma Clinical group ORPHA:314753 UMLS:C0854486 E (Exact mapping: the two concepts are equivalent) Mixed secreting pituitary adenoma UMLS:C0346305 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314759 Mixed functioning pituitary adenoma Category ORPHA:314759 UMLS:C0346305 E (Exact mapping: the two concepts are equivalent) GH and PRL cosecreting pituitary adenoma Growth hormone and prolactin cosecreting pituitary adenoma Somatolactotropinoma Somatoprolactinoma A rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia. Orphanet ICD-10:D35.2 UMLS:C4755297 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314769 Somatomammotropinoma ORPHA:314769 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755297 E (Exact mapping: the two concepts are equivalent) FIPA A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain. Orphanet ICD-10:D35.2 MeSH:C566321 OMIM:102200 UMLS:C2676191 Autosomal dominant Adolescent Adult Childhood Elderly Infancy Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314777 Familial isolated pituitary adenoma ORPHA:314777 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566321 E (Exact mapping: the two concepts are equivalent) OMIM:102200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2676191 E (Exact mapping: the two concepts are equivalent) ICD-10:D35.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314786 Silent pituitary adenoma Histopathological subtype ORPHA:314786 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D35.2 UMLS:C5680967 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314790 Null pituitary adenoma Histopathological subtype ORPHA:314790 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680967 E (Exact mapping: the two concepts are equivalent) SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never. Orphanet ICD-10:Q87.1 OMIM:300582 UMLS:C4706613 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314795 SHOX-related short stature ORPHA:314795 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300582 E (Exact mapping: the two concepts are equivalent) UMLS:C4706613 E (Exact mapping: the two concepts are equivalent) MPNST Malignant neurilemmoma Malignant neurofibroma Malignant schwannoma Neurofibrosarcoma Neurogenic sarcoma Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. Orphanet ICD-10:C47.9 ICD-11:2A02.10 MeSH:D018319 MedDRA:10029236 UMLS:C0751690 Not applicable Adolescent Adult Childhood Elderly Infancy Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3148 Malignant peripheral nerve sheath tumor ORPHA:3148 ICD-10:C47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A02.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018319 E (Exact mapping: the two concepts are equivalent) MedDRA:10029236 E (Exact mapping: the two concepts are equivalent) UMLS:C0751690 E (Exact mapping: the two concepts are equivalent) Short stature due to partial growth hormone receptor deficiency Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. Orphanet ICD-10:E34.3 OMIM:604271 UMLS:C5190814 Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314802 Short stature due to partial GHR deficiency ORPHA:314802 ICD-10:E34.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604271 E (Exact mapping: the two concepts are equivalent) UMLS:C5190814 E (Exact mapping: the two concepts are equivalent) Ghrelin receptor deficiency Short stature due to growth hormone secretagogue receptor deficiency Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. Orphanet ICD-10:E34.3 OMIM:615925 UMLS:C4707848 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314811 Short stature due to GHSR deficiency ORPHA:314811 ICD-10:E34.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615925 E (Exact mapping: the two concepts are equivalent) UMLS:C4707848 E (Exact mapping: the two concepts are equivalent) A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal. Orphanet UMLS:C5680966 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314822 Primary renal tubular acidosis Clinical group ORPHA:314822 UMLS:C5680966 E (Exact mapping: the two concepts are equivalent) AD pRTA A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features. Orphanet ICD-10:N25.8 UMLS:C5679902 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314889 Autosomal dominant proximal renal tubular acidosis Clinical subtype ORPHA:314889 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679902 E (Exact mapping: the two concepts are equivalent) 12p13.31 VAMP-1 ClinVar:VAMP1 Ensembl:ENSG00000139190 Genatlas:VAMP1 HGNC:12642 OMIM:185880 Reactome:P23763 SwissProt:P23763 VAMP1 vesicle associated membrane protein 1 Infantile Canavan disease Neonatal Canavan disease Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. Orphanet ICD-10:E75.2 ICD-11:5C50.E1 OMIM:271900 UMLS:C5575558 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314911 Severe Canavan disease Clinical subtype ORPHA:314911 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:271900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5575558 E (Exact mapping: the two concepts are equivalent) Juvenile Canavan disease Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. Orphanet ICD-10:E75.2 ICD-11:5C50.E1 OMIM:271900 UMLS:C0751667 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314918 Mild Canavan disease Clinical subtype ORPHA:314918 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:271900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751667 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Chronic adult hydrocephalus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G91.2 NON RARE IN EUROPE: Normal pressure hydrocephalus ORPHA:314928 ICD-10:G91.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 21q22.3 MGC11251 TSP-EAR ClinVar:TSPEAR Ensembl:ENSG00000175894 Genatlas:TSPEAR HGNC:1268 OMIM:612920 SwissProt:Q8WU66 TSPEAR thrombospondin type laminin G domain and EAR repeats This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Pulmonary non-tuberculous mycobacterial infection OBSOLETE: Mycobacterium xenopi infection ORPHA:314946 Clonal hypereosinophilic syndrome HES-M HES-N Neoplastic hypereosinophilic syndrome Primary HES A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others. Orphanet ICD-10:D47.5 UMLS:C5679898 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314950 Primary hypereosinophilic syndrome ORPHA:314950 ICD-10:D47.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679898 E (Exact mapping: the two concepts are equivalent) HES-R Reactive hypereosinophilic syndrome Secondary HES A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations. Orphanet ICD-10:D47.5 UMLS:C5679897 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314962 Secondary hypereosinophilic syndrome ORPHA:314962 ICD-10:D47.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679897 E (Exact mapping: the two concepts are equivalent) HES-L Lymphocytic variant HES Lymphoid HES ICD-10:D47.5 ICD-11:BC43.20 UMLS:C5396402 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314970 Lymphocytic hypereosinophilic syndrome Clinical subtype ORPHA:314970 ICD-10:D47.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5396402 E (Exact mapping: the two concepts are equivalent) X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. Orphanet ICD-10:G11.0 OMIM:300703 OMIM:302500 UMLS:C4707849 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314978 X-linked non progressive cerebellar ataxia ORPHA:314978 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300703 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:302500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707849 E (Exact mapping: the two concepts are equivalent) Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Orphanet ICD-10:Q87.8 OMIM:608227 UMLS:C4512052 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=314993 Cataract-congenital heart disease-neural tube defect syndrome ORPHA:314993 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608227 E (Exact mapping: the two concepts are equivalent) UMLS:C4512052 E (Exact mapping: the two concepts are equivalent) Degos genodermatosis "en cocardes" A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body. Orphanet ICD-10:Q82.8 Autosomal dominant Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=315 Erythrokeratoderma ''en cocardes'' ORPHA:315 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:G37.8 UMLS:C4518551 Unknown Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome ORPHA:3151 ICD-10:G37.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518551 E (Exact mapping: the two concepts are equivalent) Cortical hyperostosis-syndactyly syndrome Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. Orphanet ICD-10:M85.2 ICD-11:LD24.1Y MeSH:C537525 OMIM:269500 OMIM:614305 UMLS:C0265301 Autosomal recessive Childhood Neonatal Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3152 Sclerosteosis ORPHA:3152 ICD-10:M85.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537525 E (Exact mapping: the two concepts are equivalent) OMIM:269500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614305 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265301 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adolescent idiopathic scoliosis ORPHA:3153 Classic 21-OHD CAH, salt wasting form A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Orphanet ICD-10:E25.0 ICD-11:5A71.01 OMIM:201910 UMLS:C5679896 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 7.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Clinical subtype ORPHA:315306 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:201910 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679896 E (Exact mapping: the two concepts are equivalent) Classic 21-OHD CAH, simple virilizing form A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development. Orphanet ICD-10:E25.0 ICD-11:5A71.01 OMIM:201910 UMLS:C5679895 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Clinical subtype ORPHA:315311 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:201910 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679895 E (Exact mapping: the two concepts are equivalent) UMLS:C5680965 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=315350 Autoimmune disease with skin involvement Category ORPHA:315350 UMLS:C5680965 E (Exact mapping: the two concepts are equivalent) 6p25.1 Phenylalanine tRNA ligase 2, mitochondrial dJ236A3.1 mtPheRS phenylalanine tRNA ligase 2, mitochondrial ClinVar:FARS2 Ensembl:ENSG00000145982 Genatlas:FARS2 HGNC:21062 OMIM:611592 Reactome:O95363 SwissProt:O95363 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial 14q23.1 DAPPER DAPPER1 FRODO HDPR1 THYEX3 ClinVar:DACT1 Ensembl:ENSG00000165617 Genatlas:DACT1 HGNC:17748 OMIM:607861 Reactome:Q9NYF0 SwissProt:Q9NYF0 DACT1 dishevelled binding antagonist of beta catenin 1 14q24.3 EST352188 P70R PMP69 ClinVar:ABCD4 Ensembl:ENSG00000119688 Genatlas:ABCD4 HGNC:68 OMIM:603214 Reactome:O14678 SwissProt:O14678 ABCD4 ATP binding cassette subfamily D member 4 6q16.3 KIAA1320 ClinVar:HACE1 Ensembl:ENSG00000085382 Genatlas:HACE1 HGNC:21033 OMIM:610876 Reactome:Q8IYU2 SwissProt:Q8IYU2 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 6q16.3-q21 CSDD2 FLJ16517 ClinVar:LIN28B Ensembl:ENSG00000187772 Genatlas:LIN28B HGNC:32207 OMIM:611044 Reactome:Q6ZN17 SwissProt:Q6ZN17 LIN28B lin-28 homolog B 1p36.33 IFI15 UCRP ClinVar:ISG15 Ensembl:ENSG00000187608 Genatlas:ISG15 HGNC:4053 OMIM:147571 Reactome:P05161 SwissProt:P05161 ISG15 ISG15 ubiquitin like modifier 16q24.1 ICSBP IRF-8 ClinVar:IRF8 Ensembl:ENSG00000140968 Genatlas:IRF8 HGNC:5358 OMIM:601565 Reactome:Q02556 SwissProt:Q02556 IRF8 interferon regulatory factor 8 Nephronophthisis with retinal dystrophy Renal dysplasia-retinal aplasia syndrome SLSN A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. Orphanet ICD-10:Q61.5 ICD-11:9B70 MeSH:C537580 MedDRA:10084074 OMIM:266900 OMIM:606995 OMIM:606996 OMIM:609254 OMIM:610189 OMIM:613615 OMIM:614845 OMIM:616307 OMIM:616629 UMLS:C0403553 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3156 Senior-Loken syndrome ORPHA:3156 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537580 E (Exact mapping: the two concepts are equivalent) MedDRA:10084074 E (Exact mapping: the two concepts are equivalent) OMIM:266900 E (Exact mapping: the two concepts are equivalent) OMIM:606995 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606996 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609254 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610189 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613615 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614845 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616307 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616629 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0403553 E (Exact mapping: the two concepts are equivalent) De Morsier syndrome SOD Septo-optic dysplasia A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. Orphanet ICD-10:Q04.4 ICD-11:5A61.0 MeSH:D025962 MedDRA:10067159 OMIM:182230 UMLS:C0338503 Autosomal dominant Autosomal recessive Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3157 Septo-optic dysplasia spectrum ORPHA:3157 ICD-10:Q04.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D025962 E (Exact mapping: the two concepts are equivalent) MedDRA:10067159 E (Exact mapping: the two concepts are equivalent) OMIM:182230 E (Exact mapping: the two concepts are equivalent) UMLS:C0338503 E (Exact mapping: the two concepts are equivalent) 15q15.1 AF15Q14 CT29 D40 KIAA1570 PPP1R55 Spc7 blinkin, bub-linking kinetochore protein cancer/testis antigen 29 hKNL-1 hSpc105 kinetochore null 1 homolog (C. elegans) protein phosphatase 1, regulatory subunit 55 ClinVar:CASC5 Ensembl:ENSG00000137812 Genatlas:CASC5 HGNC:24054 OMIM:609173 Reactome:Q8NG31 SwissProt:Q8NG31 KNL1 kinetochore scaffold 1 7p22.3 CILD18 FLJ20397 FLJ25564 FLJ31671 FLJ39381 ClinVar:HEATR2 Ensembl:ENSG00000164818 Genatlas:HEATR2 HGNC:26013 OMIM:614864 SwissProt:Q86Y56 DNAAF5 dynein axonemal assembly factor 5 Darier-Gottron disease Erythrokeratodermia progressiva symmetrica Progressive symmetric erythrokeratodermia, Gottron type ICD-10:Q82.8 ICD-11:EC20.0Y OMIM:617756 OMIM:618531 OMIM:619209 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=316 Progressive symmetric erythrokeratodermia ORPHA:316 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:617756 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618531 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619209 BTNT (ORPHAcode is broader than the targeted code used to represent it) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare developmental defect during embryogenesis OBSOLETE: Vascular disruption sequence ORPHA:3160 3p21.2 DKFZP434C245 ClinVar:POC1A Ensembl:ENSG00000164087 Genatlas:POC1A HGNC:24488 OMIM:614783 Reactome:Q8NBT0 SwissProt:Q8NBT0 POC1A POC1 centriolar protein A Congenital bronchopulmonary sequestration Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants. Orphanet ICD-10:Q33.2 ICD-11:LA75.6 MeSH:D001998 MedDRA:10059160 UMLS:C0006288 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3161 Congenital pulmonary sequestration ORPHA:3161 ICD-10:Q33.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA75.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001998 E (Exact mapping: the two concepts are equivalent) MedDRA:10059160 E (Exact mapping: the two concepts are equivalent) UMLS:C0006288 E (Exact mapping: the two concepts are equivalent) Sézary lymphoma Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells). Orphanet ICD-10:C84.1 ICD-11:2B02 MeSH:D012751 MedDRA:10040493 UMLS:C0036920 Multigenic/multifactorial Not applicable Adult Norway AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3162 Sézary syndrome ORPHA:3162 ICD-10:C84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012751 E (Exact mapping: the two concepts are equivalent) MedDRA:10040493 E (Exact mapping: the two concepts are equivalent) UMLS:C0036920 E (Exact mapping: the two concepts are equivalent) SPAX MeSH:C564815 UMLS:C1849156 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=316226 Spastic ataxia Clinical group ORPHA:316226 MeSH:C564815 E (Exact mapping: the two concepts are equivalent) UMLS:C1849156 E (Exact mapping: the two concepts are equivalent) AD-SPAX UMLS:C5679899 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=316235 Autosomal dominant spastic ataxia Category ORPHA:316235 UMLS:C5679899 E (Exact mapping: the two concepts are equivalent) AR-SPAX UMLS:C5679900 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=316240 Autosomal recessive spastic ataxia Category ORPHA:316240 UMLS:C5679900 E (Exact mapping: the two concepts are equivalent) Partial deletion of chromosome 12p Partial monosomy of chromosome 12p Partial monosomy of the short arm of chromosome 12 MeSH:C538302 UMLS:C2931805 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=316244 Partial deletion of the short arm of chromosome 12 syndrome Category ORPHA:316244 MeSH:C538302 E (Exact mapping: the two concepts are equivalent) UMLS:C2931805 E (Exact mapping: the two concepts are equivalent) Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt. Orphanet ICD-10:Q87.1 ICD-11:LD27.6Z MeSH:C537327 OMIM:269880 UMLS:C0878684 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3163 SHORT syndrome ORPHA:3163 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.6Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537327 E (Exact mapping: the two concepts are equivalent) OMIM:269880 E (Exact mapping: the two concepts are equivalent) UMLS:C0878684 E (Exact mapping: the two concepts are equivalent) 15q22-q23 HGNC:22433 USH1H Usher syndrome 1H (autosomal recessive) 15q25.1 KIP2 kinase interacting protein 2 ClinVar:CIB2 Ensembl:ENSG00000136425 Genatlas:CIB2 HGNC:24579 OMIM:605564 SwissProt:O75838 CIB2 calcium and integrin binding family member 2 16q22.2 CILD5 DKFZp434D0513 KIAA1864 PPP1R31 protein phosphatase 1, regulatory subunit 31 ClinVar:HYDIN Ensembl:ENSG00000157423 Genatlas:HYDIN HGNC:19368 OMIM:610812 SwissProt:Q4G0P3 HYDIN HYDIN axonemal central pair apparatus protein 11q13.2 ClinVar:CABP2 Ensembl:ENSG00000167791 Genatlas:CABP2 HGNC:1385 OMIM:607314 SwissProt:Q9NPB3 CABP2 calcium binding protein 2 Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. Orphanet ICD-10:Q79.2 ICD-11:LD2F.1Y MeSH:C537329 OMIM:182210 UMLS:C1866958 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3164 Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164 ICD-10:Q79.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537329 E (Exact mapping: the two concepts are equivalent) OMIM:182210 E (Exact mapping: the two concepts are equivalent) UMLS:C1866958 E (Exact mapping: the two concepts are equivalent) Diffuse fasciitis with eosinophilia Shulman syndrome A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. Orphanet ICD-10:M35.4 ICD-11:4A43.4 MeSH:C562487 MedDRA:10014954 OMIM:226350 UMLS:C0264005 Unknown Adult France AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3165 Eosinophilic fasciitis ORPHA:3165 ICD-10:M35.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A43.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562487 E (Exact mapping: the two concepts are equivalent) MedDRA:10014954 E (Exact mapping: the two concepts are equivalent) OMIM:226350 E (Exact mapping: the two concepts are equivalent) UMLS:C0264005 E (Exact mapping: the two concepts are equivalent) Sialuria, French type An extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. Orphanet ICD-10:E77.8 ICD-11:5C56.4 OMIM:269921 UMLS:C0342853 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3166 Sialuria ORPHA:3166 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:269921 E (Exact mapping: the two concepts are equivalent) UMLS:C0342853 E (Exact mapping: the two concepts are equivalent) A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:J98.8 MeSH:C537335 UMLS:C2931473 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3167 Siegler-Brewer-Carey syndrome ORPHA:3167 ICD-10:J98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537335 E (Exact mapping: the two concepts are equivalent) UMLS:C2931473 E (Exact mapping: the two concepts are equivalent) Brachydactyly-symphalangism syndrome A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q74.8 MeSH:C537338 OMIM:113450 UMLS:C1862092 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3168 Sillence syndrome ORPHA:3168 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537338 E (Exact mapping: the two concepts are equivalent) OMIM:113450 E (Exact mapping: the two concepts are equivalent) UMLS:C1862092 E (Exact mapping: the two concepts are equivalent) A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated. Orphanet ICD-10:Q87.2 ICD-11:LD2F.12 MedDRA:10049216 OMIM:600145 UMLS:C0037205 Not applicable Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 0.79 AND has_birth_prevalence_range : 1-9 / 1 000 000 Brazil AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_birth_prevalence_average_value : 0.83 AND has_birth_prevalence_range : 1-9 / 1 000 000 Colombia AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.009 AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 1.04 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 0.33 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 Latin America AND has_birth_prevalence_average_value : 1.36 AND has_birth_prevalence_range : 1-9 / 100 000 Mexico AND has_birth_prevalence_average_value : 2.36 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 0.54 AND has_birth_prevalence_range : 1-9 / 1 000 000 Slovakia AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.98 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3169 Sirenomelia ORPHA:3169 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10049216 E (Exact mapping: the two concepts are equivalent) OMIM:600145 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0037205 E (Exact mapping: the two concepts are equivalent) EKV Erythrokeratodermia variabilis, Mendes da Costa type ICD-10:Q82.8 ICD-11:EC20.0Y MeSH:D056266 MedDRA:10049048 OMIM:133200 OMIM:617524 OMIM:617525 OMIM:617526 UMLS:C0265961 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317 Erythrokeratodermia variabilis ORPHA:317 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056266 E (Exact mapping: the two concepts are equivalent) MedDRA:10049048 E (Exact mapping: the two concepts are equivalent) OMIM:133200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:617524 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617525 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617526 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265961 E (Exact mapping: the two concepts are equivalent) ICCA syndrome Paroxysmal kinesigenic dyskinesia and infantile convulsions Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence. Orphanet ICD-10:G40.4 ICD-11:8A61.10 MeSH:C535522 OMIM:602066 UMLS:C1865926 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31709 Infantile convulsions and choreoathetosis ORPHA:31709 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535522 E (Exact mapping: the two concepts are equivalent) OMIM:602066 E (Exact mapping: the two concepts are equivalent) UMLS:C1865926 E (Exact mapping: the two concepts are equivalent) Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. Orphanet ICD-10:Q87.8 OMIM:227210 UMLS:C4518569 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3172 Eyebrow duplication-syndactyly syndrome ORPHA:3172 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:227210 E (Exact mapping: the two concepts are equivalent) UMLS:C4518569 E (Exact mapping: the two concepts are equivalent) Tsao-Ellingson syndrome Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:G40.4 UMLS:C4749287 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3173 Infantile spasms-broad thumbs syndrome ORPHA:3173 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749287 E (Exact mapping: the two concepts are equivalent) Xq28 CFF HCF-1 HCF1 MGC70925 PPP1R89 VCAF VP16-accessory protein protein phosphatase 1, regulatory subunit 89 ClinVar:HCFC1 Ensembl:ENSG00000172534 Genatlas:HCFC1 HGNC:4839 OMIM:300019 Reactome:P51610 SwissProt:P51610 HCFC1 host cell factor C1 15q23 FLJ11506 p34 ClinVar:AAGAB Ensembl:ENSG00000103591 Genatlas:AAGAB HGNC:25662 OMIM:614888 SwissProt:Q6PD74 AAGAB alpha and gamma adaptin binding protein 1q21.1 PEX11beta PEX11ß Peroxisomal membrane protein 11B ClinVar:PEX11B Ensembl:ENSG00000131779 Genatlas:PEX11B HGNC:8853 OMIM:603867 Reactome:O96011 SwissProt:O96011 PEX11B peroxisomal biogenesis factor 11 beta 8q24.22 CILD19 LRTP Leucine rich testes protein TSLRP leucine rich testes protein seahorse tilB ClinVar:LRRC6 Ensembl:ENSG00000129295 Genatlas:LRRC6 HGNC:16725 OMIM:614930 SwissProt:Q86X45 DNAAF11 dynein axonemal assembly factor 11 9q34.3 KCa4.1 KIAA1422 SLACK Sequence like a calcium-activated K+ channel Slo2.2 ClinVar:KCNT1 Ensembl:ENSG00000107147 Genatlas:KCNT1 HGNC:18865 IUPHAR:385 OMIM:608167 SwissProt:Q5JUK3 KCNT1 potassium sodium-activated channel subfamily T member 1 14q32.11 CAMI DD132 PHKD PHKD1 phosphorylase kinase subunit delta phosphorylase kinase subunit delta 1 prepro-calmodulin 1 ClinVar:CALM1 Ensembl:ENSG00000198668 Genatlas:CALM1 HGNC:1442 OMIM:114180 Reactome:P62158 SwissProt:P0DP23 CALM1 calmodulin 1 17q12 LIM-1 LIM/homeobox protein Lhx1 LIM1 ClinVar:LHX1 Ensembl:ENSG00000273706 Genatlas:LHX1 HGNC:6593 OMIM:601999 SwissProt:P48742 LHX1 LIM homeobox 1 9q32 MGC129934 MGC129935 TL1 TL1A TNF ligand-related molecule 1 TNF superfamily ligand TL1A VEGI VEGI192A Vascular endothelial cell growth inhibitor Vascular endothelial growth inhibitor-192A vascular endothelial cell growth inhibitor vascular endothelial growth inhibitor-192A ClinVar:TNFSF15 Ensembl:ENSG00000181634 Genatlas:TNFSF15 HGNC:11931 OMIM:604052 Reactome:O95150 SwissProt:O95150 TNFSF15 TNF superfamily member 15 Extrinsic allergic alveolitis A rare, immunologically mediated, interstitial lung disease characterized by respiratory symptoms (cough, dyspnea) due to sensitization and subsequent hypersensitivity to environmental antigens. The disorder may be accompanied by systemic manifestations (weight loss, fatigue). Orphanet ICD-11:CA70 MeSH:D000542 MedDRA:10001890 OMIM:145300 UMLS:C0002390 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31740 Hypersensitivity pneumonitis ORPHA:31740 ICD-11:CA70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000542 E (Exact mapping: the two concepts are equivalent) MedDRA:10001890 E (Exact mapping: the two concepts are equivalent) OMIM:145300 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0002390 E (Exact mapping: the two concepts are equivalent) 11q23.1 BOB1 OBF1 OCA-B OCT-binding factor 1 ClinVar:POU2AF1 Ensembl:ENSG00000110777 Genatlas:POU2AF1 HGNC:9211 OMIM:601206 Reactome:Q16633 SwissProt:Q16633 POU2AF1 POU class 2 homeobox associating factor 1 T-B+ SCID T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Orphanet ICD-10:D81.2 ICD-11:4A01.10 UMLS:C5679894 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317416 T-B+ severe combined immunodeficiency Clinical group ORPHA:317416 ICD-10:D81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679894 E (Exact mapping: the two concepts are equivalent) T-B- SCID T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. Orphanet ICD-10:D81.1 ICD-11:4A01.10 UMLS:C5679893 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317419 T-B- severe combined immunodeficiency Clinical group ORPHA:317419 ICD-10:D81.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679893 E (Exact mapping: the two concepts are equivalent) SCID due to DNA-PKcs deficiency Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. Orphanet ICD-10:D81.1 ICD-11:4A01.10 OMIM:615966 UMLS:C4274221 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317425 Severe combined immunodeficiency due to DNA-PKcs deficiency ORPHA:317425 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615966 E (Exact mapping: the two concepts are equivalent) UMLS:C4274221 E (Exact mapping: the two concepts are equivalent) CID due to ORAI1 deficiency Combined immunodeficiency (CID) due to <i>ORAI1</i> deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:612782 UMLS:C2748568 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317428 Combined immunodeficiency due to ORAI1 deficiency Clinical subtype ORPHA:317428 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612782 E (Exact mapping: the two concepts are equivalent) UMLS:C2748568 E (Exact mapping: the two concepts are equivalent) CID due to STIM1 deficiency Combined immunodeficiency (CID) due to <i>STIM1</i> deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:612783 UMLS:C2748557 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317430 Combined immunodeficiency due to STIM1 deficiency Clinical subtype ORPHA:317430 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612783 E (Exact mapping: the two concepts are equivalent) UMLS:C2748557 E (Exact mapping: the two concepts are equivalent) 1p13.2 Lyp Lyp1 Lyp2 ClinVar:PTPN22 Ensembl:ENSG00000134242 Genatlas:PTPN22 HGNC:9652 IUPHAR:3084 OMIM:600716 Reactome:Q9Y2R2 SwissProt:Q9Y2R2 PTPN22 protein tyrosine phosphatase non-receptor type 22 CID due to IKAROS deficiency Combined immunodeficiency due to IKAROS deficiency A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:616873 UMLS:C5190826 Autosomal dominant Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 39.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317473 Pancytopenia due to IKZF1 mutations ORPHA:317473 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616873 E (Exact mapping: the two concepts are equivalent) UMLS:C5190826 E (Exact mapping: the two concepts are equivalent) CID due to MAGT1 deficiency Combined immunodeficiency due to MAGT1 deficiency X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:300853 UMLS:C3275445 X-linked recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=317476 XMEN ORPHA:317476 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300853 E (Exact mapping: the two concepts are equivalent) UMLS:C3275445 E (Exact mapping: the two concepts are equivalent) A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported. Orphanet ICD-10:G25.3 OMIM:308350 UMLS:C4510949 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3175 X-linked spasticity-intellectual disability-epilepsy syndrome ORPHA:3175 ICD-10:G25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:308350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4510949 E (Exact mapping: the two concepts are equivalent) 12q13.13 ClinVar:HOXC13 Ensembl:ENSG00000123364 Genatlas:HOXC13 HGNC:5125 OMIM:142976 Reactome:P31276 SwissProt:P31276 HOXC13 homeobox C13 11p15.1 FLJ46346 OTGN mlemp ClinVar:OTOG Ensembl:ENSG00000188162 Genatlas:OTOG HGNC:8516 OMIM:604487 SwissProt:Q6ZRI0 OTOG otogelin 2p16.1 3'-5' RNA exonuclease OLD35 PNPase Polynucleotide phosphorylase old-35 polynucleotide phosphorylase ClinVar:PNPT1 Ensembl:ENSG00000138035 Genatlas:PNPT1 HGNC:23166 OMIM:610316 SwissProt:Q8TCS8 PNPT1 polyribonucleotide nucleotidyltransferase 1 12q21.31 FLJ90579 ClinVar:OTOGL Ensembl:ENSG00000165899 Genatlas:OTOGL HGNC:26901 OMIM:614925 SwissProt:Q3ZCN5 OTOGL otogelin like 17p13.1 L26 uL24 ClinVar:RPL26 Ensembl:ENSG00000161970 Genatlas:RPL26 HGNC:10327 OMIM:603704 Reactome:P61254 SwissProt:P61254 RPL26 ribosomal protein L26 Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. Orphanet ICD-10:Q05.9 UMLS:C4706660 Antenatal Infancy Neonatal Spain AND has_birth_prevalence_average_value : 6.1 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3176 Spina bifida-hypospadias syndrome ORPHA:3176 ICD-10:Q05.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706660 E (Exact mapping: the two concepts are equivalent) 12q14.2 HP10481 ClinVar:TMEM5 Ensembl:ENSG00000118600 Genatlas:TMEM5 HGNC:13530 OMIM:605862 Reactome:Q9Y2B1 SwissProt:Q9Y2B1 RXYLT1 ribitol xylosyltransferase 1 2q33.1 Methionine tRNA ligase 2, mitochondrial SPAX3 methionine tRNA ligase 2, mitochondrial mtMetRS ClinVar:mars-02 Ensembl:ENSG00000247626 Genatlas:MARS2 HGNC:25133 OMIM:609728 Reactome:Q96GW9 SwissProt:Q96GW9 MARS2 methionyl-tRNA synthetase 2, mitochondrial 5q32 C-FMS CD115 CSFR ClinVar:CSF1R Ensembl:ENSG00000182578 Genatlas:CSF1R HGNC:2433 IUPHAR:1806 OMIM:164770 Reactome:P07333 SwissProt:P07333 CSF1R colony stimulating factor 1 receptor 17p13.1 AAF132 FLJ22170 alpha accessory factor 132 conserved telomere capping protein 1 conserved telomere maintenance component 1 ClinVar:CTC1 Ensembl:ENSG00000178971 Genatlas:CTC1 HGNC:26169 OMIM:613129 SwissProt:Q2NKJ3 CTC1 CST telomere replication complex component 1 22q13.2 ACONM aconitate hydratase, mitochondrial mitochondrial aconitase ClinVar:ACO2 Ensembl:ENSG00000100412 Genatlas:ACO2 HGNC:118 OMIM:100850 Reactome:Q99798 SwissProt:Q99798 ACO2 aconitase 2 Der Kaloustian-Jarudi-Khoury syndrome A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:G11.1 ICD-11:9A70.Y MeSH:C535472 OMIM:271310 UMLS:C1849087 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3177 Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535472 E (Exact mapping: the two concepts are equivalent) OMIM:271310 E (Exact mapping: the two concepts are equivalent) UMLS:C1849087 E (Exact mapping: the two concepts are equivalent) 12p12.1 L-SOX5 MGC35153 ClinVar:SOX5 Ensembl:ENSG00000134532 Genatlas:SOX5 HGNC:11201 OMIM:604975 Reactome:P35711 SwissProt:P35711 SOX5 SRY-box transcription factor 5 16p12.2 KIAA1970 MSE1 glutamate tRNA ligase 2, mitochondrial mtGlnRS ClinVar:EARS2 Ensembl:ENSG00000103356 Genatlas:EARS2 HGNC:29419 OMIM:612799 Reactome:Q5JPH6 SwissProt:Q5JPH6 EARS2 glutamyl-tRNA synthetase 2, mitochondrial 12p12.3 GC-C GCC Guanylyl cyclase C HSER STA receptor STAR heat stable enterotoxin receptor ClinVar:GUCY2C Ensembl:ENSG00000070019 Genatlas:GUCY2C HGNC:4688 IUPHAR:1750 OMIM:601330 Reactome:P25092 SwissProt:P25092 GUCY2C guanylate cyclase 2C 4q12 ClinVar:SRP72 Ensembl:ENSG00000174780 Genatlas:SRP72 HGNC:11303 OMIM:602122 Reactome:O76094 SwissProt:O76094 SRP72 signal recognition particle 72 2q35 CMT2T HSPF3 ClinVar:DNAJB2 Ensembl:ENSG00000135924 Genatlas:DNAJB2 HGNC:5228 OMIM:604139 SwissProt:P25686 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 16q12.2 IRX-2a ClinVar:IRX5 Ensembl:ENSG00000176842 Genatlas:IRX5 HGNC:14361 OMIM:606195 SwissProt:P78411 IRX5 iroquois homeobox 5 6q13 ClinVar:MTO1 Ensembl:ENSG00000135297 Genatlas:MTO1 HGNC:19261 OMIM:614667 Reactome:Q9Y2Z2 SwissProt:Q9Y2Z2 MTO1 mitochondrial tRNA translation optimization 1 1p36.31-p36.23 KIAA0833 ClinVar:CAMTA1 Ensembl:ENSG00000171735 Genatlas:CAMTA1 HGNC:18806 OMIM:611501 SwissProt:Q9Y6Y1 CAMTA1 calmodulin binding transcription activator 1 15q21.1 ClinVar:B2M Ensembl:ENSG00000166710 Genatlas:B2M HGNC:914 OMIM:109700 Reactome:P61769 SwissProt:P61769 B2M beta-2-microglobulin 4q12 GDT1 SLC64A1 TMPT27 TPA regulated locus TPARL ClinVar:TMEM165 Ensembl:ENSG00000134851 Genatlas:TMEM165 HGNC:30760 IUPHAR:3050 OMIM:614726 SwissProt:Q9HC07 TMEM165 transmembrane protein 165 20q13.12 KRS2 Kinase responsive to stress 2 MST1 Mammalian sterile 20-like 1 YSK3 Yeast Ste20-like hippo (Drosophila) homolog kinase responsive to stress 2 mammalian sterile 20-like 1 yeast Ste20-like ClinVar:STK4 Ensembl:ENSG00000101109 Genatlas:STK4 HGNC:11408 IUPHAR:2225 OMIM:604965 Reactome:Q13043 SwissProt:Q13043 STK4 serine/threonine kinase 4 19p13.3 CREB-H CREBH cAMP-responsive element-binding protein, hepatic-specific ClinVar:CREB3L3 Ensembl:ENSG00000060566 Genatlas:CREB3L3 HGNC:18855 OMIM:611998 Reactome:Q68CJ9 SwissProt:Q68CJ9 CREB3L3 cAMP responsive element binding protein 3 like 3 AML M6 Acute myeloid leukemia M6 Erythroleukemia A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor. Orphanet ICD-10:C94.0 ICD-11:2A60.35 MeSH:D004915 OMIM:133180 UMLS:C0023440 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=318 Acute erythroid leukemia ORPHA:318 ICD-10:C94.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.35 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004915 E (Exact mapping: the two concepts are equivalent) OMIM:133180 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0023440 E (Exact mapping: the two concepts are equivalent) A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.5 MeSH:C535779 OMIM:600000 UMLS:C4274762 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3180 Spondylocamptodactyly syndrome ORPHA:3180 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535779 E (Exact mapping: the two concepts are equivalent) OMIM:600000 E (Exact mapping: the two concepts are equivalent) UMLS:C4274762 E (Exact mapping: the two concepts are equivalent) High scapula A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others. Orphanet ICD-10:Q74.0 ICD-11:LB72.1 MeSH:C535802 MedDRA:10010455 OMIM:184400 UMLS:C0152438 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3181 Sprengel deformity ORPHA:3181 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB72.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535802 E (Exact mapping: the two concepts are equivalent) MedDRA:10010455 E (Exact mapping: the two concepts are equivalent) OMIM:184400 E (Exact mapping: the two concepts are equivalent) UMLS:C0152438 E (Exact mapping: the two concepts are equivalent) Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant <i>Colchicum autumnale</i>, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days. Orphanet ICD-10:T50.4 ICD-11:NE60 UMLS:C0274779 Not applicable All ages Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31824 Colchicine poisoning ORPHA:31824 ICD-10:T50.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:NE60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0274779 E (Exact mapping: the two concepts are equivalent) Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure). Orphanet ICD-10:T51.1 ICD-11:NE61 UMLS:C0392621 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31825 Methanol poisoning ORPHA:31825 ICD-10:T51.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0392621 E (Exact mapping: the two concepts are equivalent) A rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. Orphanet ICD-10:T52.8 ICD-11:NE61 UMLS:C0413194 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31826 Ethylene glycol poisoning ORPHA:31826 ICD-10:T52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0413194 E (Exact mapping: the two concepts are equivalent) A rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. Orphanet ICD-10:T60.3 ICD-11:NE61 UMLS:C0413070 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31827 Paraquat poisoning ORPHA:31827 ICD-10:T60.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0413070 E (Exact mapping: the two concepts are equivalent) A rare, potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances. Orphanet ICD-10:T46.0 UMLS:C0274726 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31828 Digitalis poisoning ORPHA:31828 ICD-10:T46.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0274726 E (Exact mapping: the two concepts are equivalent) ICD-10:J98.4 ICD-11:BB01.0 MeSH:D011668 MedDRA:10037458 OMIM:265450 UMLS:C0034091 Autosomal recessive Not applicable All ages Europe AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31837 Pulmonary venoocclusive disease ORPHA:31837 ICD-10:J98.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BB01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011668 E (Exact mapping: the two concepts are equivalent) MedDRA:10037458 E (Exact mapping: the two concepts are equivalent) OMIM:265450 E (Exact mapping: the two concepts are equivalent) UMLS:C0034091 E (Exact mapping: the two concepts are equivalent) A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth. Orphanet ICD-10:L72.2 MeSH:C537487 OMIM:184510 UMLS:C4304819 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3184 Steatocystoma multiplex-natal teeth syndrome ORPHA:3184 ICD-10:L72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537487 E (Exact mapping: the two concepts are equivalent) OMIM:184510 E (Exact mapping: the two concepts are equivalent) UMLS:C4304819 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: PCOS NON RARE IN EUROPE: Polycystic ovarian syndrome NON RARE IN EUROPE: Stein-Leventhal syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E28.2 NON RARE IN EUROPE: Polycystic ovary syndrome ORPHA:3185 ICD-10:E28.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Steinfeld syndrome A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Orphanet ICD-10:Q87.8 MeSH:C566655 OMIM:184705 UMLS:C1866649 Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3186 Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566655 E (Exact mapping: the two concepts are equivalent) OMIM:184705 E (Exact mapping: the two concepts are equivalent) UMLS:C1866649 E (Exact mapping: the two concepts are equivalent) 7p12.2 Hs.54452 IKAROS LyF-1 PPP1R92 hIk-1 protein phosphatase 1, regulatory subunit 92 ClinVar:IKZF1 Ensembl:ENSG00000185811 Genatlas:IKZF1 HGNC:13176 OMIM:603023 Reactome:Q13422 SwissProt:Q13422 IKZF1 IKAROS family zinc finger 1 8q11.21 DNA-PKC DNA-PKcs DNA-dependent protein kinase DNA-dependent protein kinase catalytic subunit DNAPK DNAPKc DNPK1 XRCC7 p350 p460 ClinVar:PRKDC Ensembl:ENSG00000253729 Genatlas:PRKDC HGNC:9413 IUPHAR:2800 OMIM:600899 Reactome:P78527 SwissProt:P78527 PRKDC protein kinase, DNA-activated, catalytic subunit A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. Orphanet ICD-10:Q26.8 ICD-11:LA86.3 UMLS:C5680865 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3188 Congenital pulmonary veins atresia or stenosis Clinical group ORPHA:3188 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA86.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680865 E (Exact mapping: the two concepts are equivalent) 19q13.2 FLJ22365 HBV pre s2 binding protein 1 SBP1 ClinVar:MEGF8 Ensembl:ENSG00000105429 Genatlas:MEGF8 HGNC:3233 OMIM:604267 SwissProt:Q7Z7M0 MEGF8 multiple EGF like domains 8 3p21.31 FLJ12343 MGC20625 MGC21482 MGC26740 ClinVar:ATRIP Ensembl:ENSG00000164053 Genatlas:ATRIP HGNC:33499 OMIM:606605 Reactome:Q8WXE1 SwissProt:Q8WXE1 ATRIP ATR interacting protein 1q21.3 P66beta Transcription repressor p66 beta component of the MeCP1 complex transcription repressor p66 beta component of the MeCP1 complex ClinVar:GATAD2B Ensembl:ENSG00000143614 Genatlas:GATAD2B HGNC:30778 OMIM:614998 Reactome:Q8WXI9 SwissProt:Q8WXI9 GATAD2B GATA zinc finger domain containing 2B 12q14.2 NAK ClinVar:TBK1 Ensembl:ENSG00000183735 Genatlas:TBK1 HGNC:11584 IUPHAR:2237 OMIM:604834 Reactome:Q9UHD2 SwissProt:Q9UHD2 TBK1 TANK binding kinase 1 Congenital stenosis of pulmonary valve A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS). Orphanet ICD-10:Q22.1 ICD-11:LA8A.00 MedDRA:10037451 OMIM:265500 UMLS:C0162164 Multigenic/multifactorial Not applicable Childhood Infancy Neonatal Austria AND has_birth_prevalence_average_value : 19.6 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 29.1 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 59.5 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 27.2 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 63.6 AND has_birth_prevalence_range : 6-9 / 10 000 Hungary AND has_birth_prevalence_average_value : 63.1 AND has_birth_prevalence_range : 6-9 / 10 000 Ireland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 26.1 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 48.2 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 35.3 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 23.7 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 25.7 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 98.4 AND has_birth_prevalence_range : 6-9 / 10 000 Ukraine AND has_birth_prevalence_average_value : 19.4 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3189 Congenital pulmonary valvar stenosis ORPHA:3189 ICD-10:Q22.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8A.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10037451 E (Exact mapping: the two concepts are equivalent) OMIM:265500 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0162164 E (Exact mapping: the two concepts are equivalent) Osseous Ewing sarcoma Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential. Orphanet ICD-10:C40.0 ICD-10:C40.1 ICD-10:C40.2 ICD-10:C40.3 ICD-10:C41.2 ICD-10:C41.3 ICD-10:C41.4 MedDRA:10015560 OMIM:612219 UMLS:C0585474 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 2.33 AND has_lifetime_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319 Skeletal Ewing sarcoma ORPHA:319 ICD-10:C40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C40.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C41.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C41.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C41.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10015560 E (Exact mapping: the two concepts are equivalent) OMIM:612219 E (Exact mapping: the two concepts are equivalent) UMLS:C0585474 E (Exact mapping: the two concepts are equivalent) ICD-10:Q24.3 ICD-11:LA8A.6 UMLS:C3165028 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3190 Subpulmonary stenosis Clinical subtype ORPHA:3190 ICD-10:Q24.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8A.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3165028 E (Exact mapping: the two concepts are equivalent) 18q22.2 DKFZP434G145 ClinVar:RTTN Ensembl:ENSG00000176225 Genatlas:RTTN HGNC:18654 OMIM:610436 SwissProt:Q86VV8 RTTN rotatin 12q13.13 K6IRS1 KRT6IRS KRT6IRS1 ClinVar:KRT71 Ensembl:ENSG00000139648 Genatlas:KRT71 HGNC:28927 OMIM:608245 Reactome:Q3SY84 SwissProt:Q3SY84 KRT71 keratin 71 Onat syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:Q87.8 MeSH:C537749 OMIM:271960 UMLS:C0795947 Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3191 Subaortic stenosis-short stature syndrome ORPHA:3191 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537749 E (Exact mapping: the two concepts are equivalent) OMIM:271960 E (Exact mapping: the two concepts are equivalent) UMLS:C0795947 E (Exact mapping: the two concepts are equivalent) CNM4 Centronuclear myopathy type 4 Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. Orphanet ICD-10:G71.2 OMIM:614807 UMLS:C4707232 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319160 Congenital myopathy with internal nuclei and atypical cores ORPHA:319160 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614807 E (Exact mapping: the two concepts are equivalent) UMLS:C4707232 E (Exact mapping: the two concepts are equivalent) Distal del(17)(p13.1) Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. Orphanet ICD-10:Q93.5 UMLS:C4749349 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319171 Distal 17p13.1 microdeletion syndrome ORPHA:319171 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749349 E (Exact mapping: the two concepts are equivalent) Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. Orphanet ICD-10:Q87.1 OMIM:605130 UMLS:C1854630 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 84.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319182 Wiedemann-Steiner syndrome ORPHA:319182 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605130 E (Exact mapping: the two concepts are equivalent) UMLS:C1854630 E (Exact mapping: the two concepts are equivalent) Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. Orphanet ICD-10:G25.3 OMIM:614937 UMLS:C3539916 Autosomal dominant Adult Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319189 Familial cortical myoclonus ORPHA:319189 ICD-10:G25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614937 E (Exact mapping: the two concepts are equivalent) UMLS:C3539916 E (Exact mapping: the two concepts are equivalent) Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. Orphanet ICD-10:Q04.8 OMIM:251280 OMIM:618646 UMLS:C4707858 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319192 Diencephalic-mesencephalic junction dysplasia ORPHA:319192 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:251280 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618646 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707858 E (Exact mapping: the two concepts are equivalent) Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. Orphanet ICD-10:Q77.6 UMLS:C4706300 Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319195 Chondroectodermal dysplasia with night blindness ORPHA:319195 ICD-10:Q77.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706300 E (Exact mapping: the two concepts are equivalent) SPG53 Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the <i>VPS37A</i> gene (8p22) encoding vacuolar protein sorting-associated protein 37A. Orphanet ICD-10:G11.4 OMIM:614898 UMLS:C3539494 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319199 Autosomal recessive spastic paraplegia type 53 ORPHA:319199 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614898 E (Exact mapping: the two concepts are equivalent) UMLS:C3539494 E (Exact mapping: the two concepts are equivalent) ICD-10:Q25.6 ICD-11:LA8A.00 UMLS:C2910138 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3192 Supravalvular pulmonary stenosis Clinical subtype ORPHA:3192 ICD-10:Q25.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8A.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2910138 E (Exact mapping: the two concepts are equivalent) BMAH Bilateral adrenal hemorrhage ICD-10:E27.4 UMLS:C5679892 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319205 Bilateral massive adrenal hemorrhage Etiological subtype ORPHA:319205 ICD-10:E27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679892 E (Exact mapping: the two concepts are equivalent) Zambian hemorrhagic fever Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. Orphanet ICD-10:A96.8 ICD-11:1D6Y MeSH:C000723471 MedDRA:10079325 UMLS:C4274433 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319213 Lujo hemorrhagic fever ORPHA:319213 ICD-10:A96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000723471 E (Exact mapping: the two concepts are equivalent) MedDRA:10079325 E (Exact mapping: the two concepts are equivalent) UMLS:C4274433 E (Exact mapping: the two concepts are equivalent) EHF Ebola fever Ebola virus disease Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. Orphanet ICD-10:A98.4 ICD-11:1D60.01 MeSH:D019142 MedDRA:10014071 UMLS:C0282687 Not applicable All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 28220.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319218 Ebola hemorrhagic fever ORPHA:319218 ICD-10:A98.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D60.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D019142 E (Exact mapping: the two concepts are equivalent) MedDRA:10014071 E (Exact mapping: the two concepts are equivalent) UMLS:C0282687 E (Exact mapping: the two concepts are equivalent) Argentinian hemorrhagic fever Junin hemorrhagic fever A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations. Orphanet ICD-10:A96.0 ICD-11:1D61.0 UMLS:C0019097 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319223 Argentine hemorrhagic fever ORPHA:319223 ICD-10:A96.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0019097 E (Exact mapping: the two concepts are equivalent) Machupo hemorrhagic fever Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations. Orphanet ICD-10:A96.1 ICD-11:1D61.1 MedDRA:10005932 UMLS:C0282192 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319229 Bolivian hemorrhagic fever ORPHA:319229 ICD-10:A96.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D61.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10005932 E (Exact mapping: the two concepts are equivalent) UMLS:C0282192 E (Exact mapping: the two concepts are equivalent) Guanarito hemorrhagic fever Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations. Orphanet ICD-10:A96.8 ICD-11:1D61.3 UMLS:C0042470 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319234 Venezuelan hemorrhagic fever ORPHA:319234 ICD-10:A96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D61.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0042470 E (Exact mapping: the two concepts are equivalent) Sabia hemorrhagic fever Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death. Orphanet ICD-10:A96.8 ICD-11:1D6Y UMLS:C0343633 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319239 Brazilian hemorrhagic fever ORPHA:319239 ICD-10:A96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0343633 E (Exact mapping: the two concepts are equivalent) Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since. Orphanet ICD-10:A96.8 ICD-11:1D6Y MeSH:C000723468 UMLS:C4274434 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319244 Chapare hemorrhagic fever ORPHA:319244 ICD-10:A96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000723468 E (Exact mapping: the two concepts are equivalent) UMLS:C4274434 E (Exact mapping: the two concepts are equivalent) A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock. Orphanet ICD-10:B33.4+ ICD-10:J17.1* ICD-11:1D62.1 MeSH:D018804 MedDRA:10019143 UMLS:C0243025 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319247 Hantavirus pulmonary syndrome ORPHA:319247 ICD-10:B33.4+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:J17.1* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D62.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018804 E (Exact mapping: the two concepts are equivalent) MedDRA:10019143 E (Exact mapping: the two concepts are equivalent) UMLS:C0243025 E (Exact mapping: the two concepts are equivalent) Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. Orphanet ICD-10:A92.4 ICD-11:1D44 MeSH:D012295 MedDRA:10039143 UMLS:C0035613 All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319251 Rift valley fever ORPHA:319251 ICD-10:A92.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D44 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012295 E (Exact mapping: the two concepts are equivalent) MedDRA:10039143 E (Exact mapping: the two concepts are equivalent) UMLS:C0035613 E (Exact mapping: the two concepts are equivalent) Kyasanur hemorrhagic fever Monkey disease Monkey fever A rare infectious disease caused by the kyasanura forest disease virus and clinically characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. Orphanet ICD-10:A98.2 ICD-11:1D4B MeSH:D007733 MedDRA:10023505 UMLS:C0022810 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319254 Kyasanur forest disease ORPHA:319254 ICD-10:A98.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D4B - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007733 E (Exact mapping: the two concepts are equivalent) MedDRA:10023505 E (Exact mapping: the two concepts are equivalent) UMLS:C0022810 E (Exact mapping: the two concepts are equivalent) Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. Orphanet ICD-10:A98.1 ICD-11:1D4A MeSH:D006481 MedDRA:10030310 UMLS:C0019103 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319266 Omsk hemorrhagic fever ORPHA:319266 ICD-10:A98.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D4A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006481 E (Exact mapping: the two concepts are equivalent) MedDRA:10030310 E (Exact mapping: the two concepts are equivalent) UMLS:C0019103 E (Exact mapping: the two concepts are equivalent) CCRCC Clear cell renal cell adenocarcinoma Clear cell renal cell carcinoma A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass. Orphanet ICD-10:C64 MedDRA:10073251 UMLS:C0279702 Not applicable Adult Elderly Europe AND has_annual_incidence_average_value : 1.99 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319276 Clear cell renal carcinoma ORPHA:319276 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10073251 E (Exact mapping: the two concepts are equivalent) UMLS:C0279702 E (Exact mapping: the two concepts are equivalent) MCRCC Multilocular clear cell adenocarcinoma Multilocular clear cell carcinoma Multilocular clear cell renal cell adenocarcinoma Multilocular clear cell renal cell carcinoma Multilocular cystic renal cell adenocarcinoma Multilocular cystic renal cell carcinoma Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present. Orphanet ICD-10:C64 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319287 Multilocular cystic renal neoplasm of low malignant potential Histopathological subtype ORPHA:319287 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Papillary renal cell adenocarcinoma Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. Orphanet ICD-10:C64 ICD-11:2C90.Y MedDRA:10078493 UMLS:C1306837 Adult Elderly Europe AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319298 Papillary renal cell carcinoma ORPHA:319298 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10078493 E (Exact mapping: the two concepts are equivalent) UMLS:C1306837 E (Exact mapping: the two concepts are equivalent) SVAS A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement). Orphanet ICD-10:Q25.3 ICD-11:LA8A.3 MeSH:D021921 MedDRA:10042598 OMIM:185500 UMLS:C0003499 Autosomal dominant All ages Europe AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 13.3 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3193 Supravalvular aortic stenosis ORPHA:3193 ICD-10:Q25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8A.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D021921 E (Exact mapping: the two concepts are equivalent) MedDRA:10042598 E (Exact mapping: the two concepts are equivalent) OMIM:185500 E (Exact mapping: the two concepts are equivalent) UMLS:C0003499 E (Exact mapping: the two concepts are equivalent) Chromophobe renal cell adenocarcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described. Orphanet ICD-10:C64 MedDRA:10080544 UMLS:C1266042 Adult Elderly Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319303 Chromophobe renal cell carcinoma ORPHA:319303 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10080544 E (Exact mapping: the two concepts are equivalent) UMLS:C1266042 E (Exact mapping: the two concepts are equivalent) Carcinoma associated with MITF/TFE translocation Translocation renal cell carcinoma MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the <i>TFE3</i> (Xp11 t-RCC) or <i>TFEB</i> [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. Orphanet ICD-10:C64 OMIM:300854 UMLS:C4518356 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319308 MiT family translocation renal cell carcinoma ORPHA:319308 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300854 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4518356 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Renal cell carcinoma after neuroblastoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Renal cell carcinoma OBSOLETE: Renal cell carcinoma associated with neuroblastoma ORPHA:319314 Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis. Orphanet ICD-10:C64 MedDRA:10064886 UMLS:C4049328 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319319 Renal medullary carcinoma ORPHA:319319 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10064886 E (Exact mapping: the two concepts are equivalent) UMLS:C4049328 E (Exact mapping: the two concepts are equivalent) Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted. Orphanet ICD-10:C64 UMLS:C4707257 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319322 Mucinous tubular and spindle cell renal carcinoma ORPHA:319322 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707257 E (Exact mapping: the two concepts are equivalent) Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported. Orphanet ICD-10:C64 UMLS:C4288091 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319325 Tubulocystic renal cell carcinoma ORPHA:319325 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4288091 E (Exact mapping: the two concepts are equivalent) UMLS:C5680964 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319328 Inherited renal cancer-predisposing syndrome Category ORPHA:319328 UMLS:C5680964 E (Exact mapping: the two concepts are equivalent) Autosomal recessive myogenic AMC SYNE1-related AMC SYNE1-related arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. Orphanet ICD-10:Q74.3 OMIM:618484 UMLS:C4707155 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319332 Autosomal recessive myogenic arthrogryposis multiplex congenita ORPHA:319332 ICD-10:Q74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618484 E (Exact mapping: the two concepts are equivalent) UMLS:C4707155 E (Exact mapping: the two concepts are equivalent) Carney complex variant Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). Orphanet ICD-10:Q68.8 OMIM:608837 UMLS:C4553889 Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319340 Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608837 E (Exact mapping: the two concepts are equivalent) UMLS:C4553889 E (Exact mapping: the two concepts are equivalent) CDO syndrome Stern-Lubinsky-Durrie syndrome A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:H18.5 ICD-11:LD27.0Y MeSH:C536444 OMIM:122440 UMLS:C1852542 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3194 Corneodermatoosseous syndrome ORPHA:3194 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536444 E (Exact mapping: the two concepts are equivalent) OMIM:122440 E (Exact mapping: the two concepts are equivalent) UMLS:C1852542 E (Exact mapping: the two concepts are equivalent) Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. Orphanet ICD-10:D61.0 OMIM:605724 UMLS:C4707792 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations ORPHA:319462 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605724 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707792 E (Exact mapping: the two concepts are equivalent) Familial AML Inherited AML Pure familial AML Pure familial acute myeloid leukemia Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. Orphanet ICD-10:C92.0 OMIM:601626 UMLS:C4707228 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319465 Inherited acute myeloid leukemia ORPHA:319465 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707228 E (Exact mapping: the two concepts are equivalent) AML with CEBPA somatic mutations A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the <i>CEBPA</i> gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Orphanet ICD-10:C92.0 OMIM:601626 UMLS:C4707178 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319480 Acute myeloid leukemia with CEBPA somatic mutations ORPHA:319480 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707178 E (Exact mapping: the two concepts are equivalent) FNMTC Familial pure nonmedullary thyroid carcinoma Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology. Orphanet ICD-10:C73 OMIM:188470 OMIM:188550 OMIM:603386 OMIM:603744 OMIM:606240 OMIM:616534 OMIM:616535 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319487 Familial papillary or follicular thyroid carcinoma ORPHA:319487 ICD-10:C73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:188470 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:188550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:603386 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603744 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606240 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616534 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616535 BTNT (ORPHAcode is broader than the targeted code used to represent it) A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. Orphanet UMLS:C5191836 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319494 Familial nonmedullary thyroid carcinoma Clinical group ORPHA:319494 UMLS:C5191836 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PHACE syndrome Sternal malformation-vascular dysplasia syndrome ORPHA:3195 COXPD8 Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:614096 UMLS:C4518839 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319504 Combined oxidative phosphorylation defect type 8 ORPHA:319504 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614096 E (Exact mapping: the two concepts are equivalent) UMLS:C4518839 E (Exact mapping: the two concepts are equivalent) COXPD9 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:614582 UMLS:C4706315 Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319509 Combined oxidative phosphorylation defect type 9 ORPHA:319509 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614582 E (Exact mapping: the two concepts are equivalent) UMLS:C4706315 E (Exact mapping: the two concepts are equivalent) COXPD13 Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:614932 UMLS:C4706283 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319514 Combined oxidative phosphorylation defect type 13 ORPHA:319514 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614932 E (Exact mapping: the two concepts are equivalent) UMLS:C4706283 E (Exact mapping: the two concepts are equivalent) COXPD14 Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:614946 UMLS:C4755312 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319519 Combined oxidative phosphorylation defect type 14 ORPHA:319519 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614946 E (Exact mapping: the two concepts are equivalent) UMLS:C4755312 E (Exact mapping: the two concepts are equivalent) COXPD15 Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:614947 UMLS:C4706313 Childhood Infancy Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319524 Combined oxidative phosphorylation defect type 15 ORPHA:319524 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614947 E (Exact mapping: the two concepts are equivalent) UMLS:C4706313 E (Exact mapping: the two concepts are equivalent) Autosomal recessive MSMD due to a complete deficiency A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. Orphanet UMLS:C5679890 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Category ORPHA:319535 UMLS:C5679890 E (Exact mapping: the two concepts are equivalent) Autosomal recessive MSMD due to a partial deficiency A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the <i>IFNGR1</i> and <i>IFNGR2</i> genes which lead to a residual response of IFN-gamma. Orphanet UMLS:C5679891 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Category ORPHA:319539 UMLS:C5679891 E (Exact mapping: the two concepts are equivalent) Autosomal dominant MSMD due to a partial deficiency A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). Orphanet UMLS:C5679889 Autosomal dominant Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Category ORPHA:319543 UMLS:C5679889 E (Exact mapping: the two concepts are equivalent) MSMD due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:614889 UMLS:C4303071 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency ORPHA:319547 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614889 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4303071 E (Exact mapping: the two concepts are equivalent) MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent <i>Salmonella</i> infections. Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:614891 UMLS:C4274793 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 180.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ORPHA:319552 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614891 E (Exact mapping: the two concepts are equivalent) UMLS:C4274793 E (Exact mapping: the two concepts are equivalent) MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent <i>Salmonella</i> infections. Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:614890 UMLS:C4303665 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 49.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ORPHA:319558 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614890 E (Exact mapping: the two concepts are equivalent) UMLS:C4303665 E (Exact mapping: the two concepts are equivalent) MSMD due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections. Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:616126 UMLS:C4509853 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ORPHA:319563 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616126 E (Exact mapping: the two concepts are equivalent) UMLS:C4509853 E (Exact mapping: the two concepts are equivalent) Autosomal recessive MSMD due to partial IFNgammaR1 deficiency Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:209950 UMLS:C4511091 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency ORPHA:319569 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:209950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4511091 E (Exact mapping: the two concepts are equivalent) Autosomal recessive MSMD due to partial IFNgammaR2 deficiency Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:614889 UMLS:C4511098 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency ORPHA:319574 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614889 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4511098 E (Exact mapping: the two concepts are equivalent) Autosomal dominant MSMD due to partial IFNgammaR1 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:615978 UMLS:C4511097 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 68.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency ORPHA:319581 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615978 E (Exact mapping: the two concepts are equivalent) UMLS:C4511097 E (Exact mapping: the two concepts are equivalent) Autosomal dominant MSMD due to partial IFNgammaR2 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Orphanet ICD-10:D84.8 ICD-11:4A00.2 UMLS:C4510875 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency ORPHA:319589 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510875 E (Exact mapping: the two concepts are equivalent) MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:614892 UMLS:C4509855 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ORPHA:319595 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614892 E (Exact mapping: the two concepts are equivalent) UMLS:C4509855 E (Exact mapping: the two concepts are equivalent) Lyngstadaas syndrome A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:K76.8 MeSH:C537490 UMLS:C2931508 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3196 Steroid dehydrogenase deficiency-dental anomalies syndrome ORPHA:3196 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537490 E (Exact mapping: the two concepts are equivalent) UMLS:C2931508 E (Exact mapping: the two concepts are equivalent) MSMD due to partial IRF8 deficiency MSMD due to partial interferon regulatory factor 8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG).. Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:614893 UMLS:C4509854 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ORPHA:319600 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614893 E (Exact mapping: the two concepts are equivalent) UMLS:C4509854 E (Exact mapping: the two concepts are equivalent) X-linked MSMD X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (<i>IKBKG</i>) or the cytochrome b-245, beta polypeptide (<i>CYBB</i>) genes. They are characterized by mycobacterial infections, occuring in males. Orphanet ICD-10:D84.8 ICD-11:4A00.2 OMIM:300636 OMIM:300645 UMLS:C4304413 X-linked recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319605 X-linked mendelian susceptibility to mycobacterial diseases ORPHA:319605 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300636 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300645 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4304413 E (Exact mapping: the two concepts are equivalent) X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency ICD-10:D84.8 ICD-11:4A00.2 OMIM:300636 UMLS:C1970879 X-linked recessive Adolescent Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Etiological subtype ORPHA:319612 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300636 E (Exact mapping: the two concepts are equivalent) UMLS:C1970879 E (Exact mapping: the two concepts are equivalent) X-linked MSMD due to CYBB deficiency ICD-10:D84.8 ICD-11:4A00.2 MeSH:C567068 OMIM:300645 UMLS:C1970859 X-linked recessive Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Etiological subtype ORPHA:319623 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567068 E (Exact mapping: the two concepts are equivalent) OMIM:300645 E (Exact mapping: the two concepts are equivalent) UMLS:C1970859 E (Exact mapping: the two concepts are equivalent) Amyloidosis cutis dyschromica A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. Orphanet ICD-10:E85.4+ ICD-10:L99.0* OMIM:617920 UMLS:C4554601 Childhood Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319635 Amyloidosis cutis dyschromia ORPHA:319635 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617920 E (Exact mapping: the two concepts are equivalent) UMLS:C4554601 E (Exact mapping: the two concepts are equivalent) MCDR2 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Orphanet ICD-10:H35.5 MeSH:C562746 OMIM:608051 UMLS:C4749334 Adolescent Adult Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319640 Retinal macular dystrophy type 2 ORPHA:319640 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562746 E (Exact mapping: the two concepts are equivalent) OMIM:608051 E (Exact mapping: the two concepts are equivalent) UMLS:C4749334 E (Exact mapping: the two concepts are equivalent) CDG syndrome type It CDG-It CDG1T Congenital disorder of glycosylation type 1t Congenital disorder of glycosylation type It PGM1-related congenital disorder of glycosylation Phosphoglucomutase-1 deficiency A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Orphanet ICD-10:E77.8 ICD-11:5C54.0 OMIM:614921 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 46.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319646 PGM1-CDG ORPHA:319646 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614921 E (Exact mapping: the two concepts are equivalent) DHFR deficiency Dihydrofolate reductase deficiency ICD-10:D52.8 ICD-11:3A02.Y MeSH:C565095 OMIM:613839 UMLS:C3151205 Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319651 Constitutional megaloblastic anemia with severe neurologic disease ORPHA:319651 ICD-10:D52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565095 E (Exact mapping: the two concepts are equivalent) OMIM:613839 E (Exact mapping: the two concepts are equivalent) UMLS:C3151205 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Unexplained intellectual disability ORPHA:319658 Primary lymphoid conjunctival tumor Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. Orphanet ICD-10:C85.7 UMLS:C4706485 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319667 Primary lymphoma of the conjunctiva ORPHA:319667 ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706485 E (Exact mapping: the two concepts are equivalent) Microcephalic primordial dwarfism, Alazami type A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). Orphanet ICD-10:Q87.1 OMIM:615071 UMLS:C3554439 Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319671 Alazami syndrome ORPHA:319671 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615071 E (Exact mapping: the two concepts are equivalent) UMLS:C3554439 E (Exact mapping: the two concepts are equivalent) Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. Orphanet ICD-10:Q87.1 OMIM:614851 UMLS:C4749303 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319675 Microcephalic primordial dwarfism, Dauber type ORPHA:319675 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614851 E (Exact mapping: the two concepts are equivalent) UMLS:C4749303 E (Exact mapping: the two concepts are equivalent) Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. Orphanet ICD-10:E88.8 OMIM:614654 OMIM:616733 UMLS:C4706367 Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614654 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616733 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706367 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Lactase non-persistence in adulthood ORPHA:319681 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency ORPHA:319684 NON RARE IN EUROPE: Partial achromatopsia, protan type NON RARE IN EUROPE: Protanopia This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Partial color blindness, protan type ORPHA:319691 NON RARE IN EUROPE: Deuteranopia NON RARE IN EUROPE: Partial achromatopsia, deutan type This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Partial color blindness, deutan type ORPHA:319698 Congenital stiff man syndrome Familial startle disease Hereditary hyperexplexia Kok disease Stiff baby syndrome Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Orphanet ICD-10:G25.8 ICD-11:LD90.Y MeSH:C538136 OMIM:149400 OMIM:614618 OMIM:614619 OMIM:618011 UMLS:C1835614 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3197 Hereditary hyperekplexia ORPHA:3197 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538136 E (Exact mapping: the two concepts are equivalent) OMIM:149400 E (Exact mapping: the two concepts are equivalent) OMIM:614618 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614619 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618011 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1835614 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G20 NON RARE IN EUROPE: Parkinson disease ORPHA:319705 ICD-10:G20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680962 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=319719 Autoinflammatory syndrome of childhood Category ORPHA:319719 UMLS:C5680962 E (Exact mapping: the two concepts are equivalent) Moersch-Woltman syndrome SMS SPS Stiff man spectrum disorder A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia related to walking, an exaggerated startle response, and often ankylosing deformities such as fixed lumbar hyperlordosis. Orphanet ICD-10:G25.8 ICD-11:8E4A.0 MedDRA:10042044 OMIM:184850 UMLS:C0085292 Not applicable Adolescent Adult Childhood Elderly Infancy Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Tanzania, United Republic of AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3198 Stiff person spectrum disorder ORPHA:3198 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10042044 E (Exact mapping: the two concepts are equivalent) OMIM:184850 E (Exact mapping: the two concepts are equivalent) UMLS:C0085292 E (Exact mapping: the two concepts are equivalent) Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Orphanet ICD-10:Q87.1 MeSH:C565968 OMIM:202900 UMLS:C1859965 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3199 Stimmler syndrome ORPHA:3199 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565968 E (Exact mapping: the two concepts are equivalent) OMIM:202900 E (Exact mapping: the two concepts are equivalent) UMLS:C1859965 E (Exact mapping: the two concepts are equivalent) Pyroglutamicaciduria A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Orphanet ICD-10:D55.1 ICD-11:3A10.0Y MeSH:C536835 MedDRA:10079364 OMIM:231900 OMIM:266130 UMLS:C0398746 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=32 Glutathione synthetase deficiency ORPHA:32 ICD-10:D55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536835 E (Exact mapping: the two concepts are equivalent) MedDRA:10079364 E (Exact mapping: the two concepts are equivalent) OMIM:231900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:266130 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0398746 E (Exact mapping: the two concepts are equivalent) 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. Orphanet ICD-10:E26.8 ICD-11:5A76.Y MeSH:D043204 MedDRA:10080229 OMIM:218030 UMLS:C0342488 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320 Apparent mineralocorticoid excess ORPHA:320 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A76.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D043204 E (Exact mapping: the two concepts are equivalent) MedDRA:10080229 E (Exact mapping: the two concepts are equivalent) OMIM:218030 E (Exact mapping: the two concepts are equivalent) UMLS:C0342488 E (Exact mapping: the two concepts are equivalent) Stoll-Alembik-Finck syndrome A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q68.8 OMIM:601701 UMLS:C5191837 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3200 Arthrogryposis-ectodermal dysplasia syndrome ORPHA:3200 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601701 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5191837 E (Exact mapping: the two concepts are equivalent) Stoll-Kieny-Dott syndrome This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term). Orphanet ICD-10:Q87.8 OMIM:192445 UMLS:C4304408 Unknown Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome ORPHA:3201 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:192445 E (Exact mapping: the two concepts are equivalent) UMLS:C4304408 E (Exact mapping: the two concepts are equivalent) 18p11.32 FSHD2 KIAA0650 ClinVar:SMCHD1 Ensembl:ENSG00000101596 Genatlas:SMCHD1 HGNC:29090 OMIM:614982 SwissProt:A6NHR9 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 10q23.33 ClinVar:CYP26C1 Ensembl:ENSG00000187553 Genatlas:CYP26C1 HGNC:20577 IUPHAR:1368 OMIM:608428 Reactome:Q6V0L0 SwissProt:Q6V0L0 CYP26C1 cytochrome P450 family 26 subfamily C member 1 4q25 DKFZP564K112 HDCMA18P P-TEFb-interaction protein for 7SK stability PIP7S ClinVar:LARP7 Ensembl:ENSG00000174720 Genatlas:LARP7 HGNC:24912 OMIM:612026 Reactome:Q4G0J3 SwissProt:Q4G0J3 LARP7 La ribonucleoprotein 7, transcriptional regulator Hereditary xerocytosis Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Orphanet ICD-10:D58.8 ICD-11:3A10.Y MeSH:C536764 OMIM:194380 OMIM:616689 UMLS:C0272051 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3202 Dehydrated hereditary stomatocytosis ORPHA:3202 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536764 E (Exact mapping: the two concepts are equivalent) OMIM:194380 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616689 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0272051 E (Exact mapping: the two concepts are equivalent) Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Orphanet ICD-10:D58.8 ICD-11:3A10.Y OMIM:185000 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3203 Overhydrated hereditary stomatocytosis ORPHA:3203 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:185000 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Cleft lip/palate-ectodermal dysplasia syndrome OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:320317 UMLS:C5680963 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320332 X-linked pure spastic paraplegia Clinical group ORPHA:320332 UMLS:C5680963 E (Exact mapping: the two concepts are equivalent) Pure or complex familial spastic paraplegia Pure or complicated familial spastic paraplegia Pure or complicated hereditary spastic paraplegia UMLS:C5679885 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320335 Pure or complex hereditary spastic paraplegia Clinical group ORPHA:320335 UMLS:C5679885 E (Exact mapping: the two concepts are equivalent) Pure or complicated autosomal dominant spastic paraplegia UMLS:C5679886 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320342 Pure or complex autosomal dominant spastic paraplegia Clinical group ORPHA:320342 UMLS:C5679886 E (Exact mapping: the two concepts are equivalent) Pure or complicated autosomal recessive spastic paraplegia UMLS:C5679887 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320346 Pure or complex autosomal recessive spastic paraplegia Clinical group ORPHA:320346 UMLS:C5679887 E (Exact mapping: the two concepts are equivalent) Pure or complicated X-linked spastic paraplegia UMLS:C5679888 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320350 Pure or complex X-linked spastic paraplegia Clinical group ORPHA:320350 UMLS:C5679888 E (Exact mapping: the two concepts are equivalent) SPG41 A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. Orphanet ICD-10:G11.4 ICD-11:8B44.00 OMIM:613364 UMLS:C3888208 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320355 Autosomal dominant spastic paraplegia type 41 ORPHA:320355 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613364 E (Exact mapping: the two concepts are equivalent) UMLS:C3888208 E (Exact mapping: the two concepts are equivalent) Maternally-inherited SPG Maternally-inherited spastic paraplegia A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. Orphanet ICD-10:G11.4 ICD-11:8B44.0Y UMLS:C4755299 Mitochondrial inheritance Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320360 MT-ATP6-related mitochondrial spastic paraplegia ORPHA:320360 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755299 E (Exact mapping: the two concepts are equivalent) SPG36 A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C567930 OMIM:613096 UMLS:C2936879 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320365 Autosomal dominant spastic paraplegia type 36 ORPHA:320365 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567930 E (Exact mapping: the two concepts are equivalent) OMIM:613096 E (Exact mapping: the two concepts are equivalent) UMLS:C2936879 E (Exact mapping: the two concepts are equivalent) SPG43 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615043 UMLS:C2680446 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320370 Autosomal recessive spastic paraplegia type 43 ORPHA:320370 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615043 E (Exact mapping: the two concepts are equivalent) UMLS:C2680446 E (Exact mapping: the two concepts are equivalent) SPG55 Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the <i>C12ORF65</i> gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615035 UMLS:C3539506 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320375 Autosomal recessive spastic paraplegia type 55 ORPHA:320375 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615035 E (Exact mapping: the two concepts are equivalent) UMLS:C3539506 E (Exact mapping: the two concepts are equivalent) SPG54 Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the <i>DDHD2</i> gene (8p11.23) encoding phospholipase DDHD2. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615033 UMLS:C3539495 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320380 Autosomal recessive spastic paraplegia type 54 ORPHA:320380 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615033 E (Exact mapping: the two concepts are equivalent) UMLS:C3539495 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spastic paraplegia type 49 HSAN due to TECPR2 mutation SPG49 A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Orphanet ICD-10:G11.4 ICD-11:8C21.Y OMIM:615031 UMLS:C5190860 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation ORPHA:320385 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615031 E (Exact mapping: the two concepts are equivalent) UMLS:C5190860 E (Exact mapping: the two concepts are equivalent) SPG46 Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the <i>GBA2</i> gene (9p13.2) encoding non-lysosomal glucosylceramidase. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:614409 UMLS:C2828721 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320391 Autosomal recessive spastic paraplegia type 46 ORPHA:320391 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614409 E (Exact mapping: the two concepts are equivalent) UMLS:C2828721 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spastic paraplegia type 65 SPG45 SPG65 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:613162 UMLS:C3888209 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320396 Autosomal recessive spastic paraplegia type 45 ORPHA:320396 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613162 E (Exact mapping: the two concepts are equivalent) UMLS:C3888209 E (Exact mapping: the two concepts are equivalent) Stormorken syndrome Thrombocytopathy-asplenia-miosis syndrome Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. Orphanet ICD-10:D69.8 ICD-11:3B62.Y MeSH:C566108 OMIM:185070 UMLS:C1861451 Autosomal dominant All ages Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3204 Stormorken-Sjaastad-Langslet syndrome ORPHA:3204 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566108 E (Exact mapping: the two concepts are equivalent) OMIM:185070 E (Exact mapping: the two concepts are equivalent) UMLS:C1861451 E (Exact mapping: the two concepts are equivalent) SPG44 Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the <i>GJC2</i> gene (1q41-q42) encoding the gap junction gamma-2 protein. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C567707 OMIM:613206 UMLS:C2750784 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320401 Autosomal recessive spastic paraplegia type 44 ORPHA:320401 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567707 E (Exact mapping: the two concepts are equivalent) OMIM:613206 E (Exact mapping: the two concepts are equivalent) UMLS:C2750784 E (Exact mapping: the two concepts are equivalent) SPOAN A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C563702 OMIM:609541 UMLS:C1836010 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 75.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320406 Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563702 E (Exact mapping: the two concepts are equivalent) OMIM:609541 E (Exact mapping: the two concepts are equivalent) UMLS:C1836010 E (Exact mapping: the two concepts are equivalent) SPG56 A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615030 UMLS:C3539507 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=320411 Autosomal recessive spastic paraplegia type 56 ORPHA:320411 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615030 E (Exact mapping: the two concepts are equivalent) UMLS:C3539507 E (Exact mapping: the two concepts are equivalent) Encephalofacial angiomatosis Encephalotrigeminal angiomatosis SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications. Orphanet ICD-10:Q85.8 ICD-11:LD23 MeSH:D013341 MedDRA:10042265 OMIM:185300 UMLS:C0038505 Not applicable Neonatal Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3205 Sturge-Weber syndrome ORPHA:3205 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013341 E (Exact mapping: the two concepts are equivalent) MedDRA:10042265 E (Exact mapping: the two concepts are equivalent) OMIM:185300 E (Exact mapping: the two concepts are equivalent) UMLS:C0038505 E (Exact mapping: the two concepts are equivalent) 1p13.3 Epidermal growth factor receptor kinase substrate 8-like protein 3 FLJ21522 MGC16817 ClinVar:EPS8L3 Ensembl:ENSG00000198758 Genatlas:EPS8L3 HGNC:21297 OMIM:614989 SwissProt:Q8TE67 EPS8L3 EPS8 signaling adaptor L3 19q13.32 FBH3 FBHOk sigma-2 ClinVar:AP2S1 Ensembl:ENSG00000042753 Genatlas:AP2S1 HGNC:565 OMIM:602242 Reactome:P53680 SwissProt:P53680 AP2S1 adaptor related protein complex 2 subunit sigma 1 8p23.3 Gef10 KIAA0294 ClinVar:ARHGEF10 Ensembl:ENSG00000104728 Genatlas:ARHGEF10 HGNC:14103 OMIM:608136 Reactome:O15013 SwissProt:O15013 ARHGEF10 Rho guanine nucleotide exchange factor 10 Neonatal Schwartz-Jampel syndrome SJS2 STWS SWS Schwartz-Jampel syndrome type 2 Stüve-Wiedemann dysplasia Stüve-Wiedemann syndrome type 1 Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. Orphanet ICD-10:Q78.8 ICD-11:LD24.C MeSH:C537502 OMIM:601559 UMLS:C0796176 Autosomal recessive Neonatal United Arab Emirates AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_cases/families_value : 56.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3206 Stüve-Wiedemann syndrome ORPHA:3206 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537502 E (Exact mapping: the two concepts are equivalent) OMIM:601559 E (Exact mapping: the two concepts are equivalent) UMLS:C0796176 E (Exact mapping: the two concepts are equivalent) 14q32.11-q32.12 DAPLE Dvl-associating protein with a high frequency of leucine residues HkRP2 SCA40 spinocerebellar ataxia 40 ClinVar:CCDC88C Ensembl:ENSG00000015133 Genatlas:CCDC88C HGNC:19967 OMIM:611204 Reactome:Q9P219 SwissProt:Q9P219 CCDC88C coiled-coil domain containing 88C Curatolo-Cilio-Pessagno syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.0 MeSH:C536701 UMLS:C2931292 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome ORPHA:3207 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536701 E (Exact mapping: the two concepts are equivalent) UMLS:C2931292 E (Exact mapping: the two concepts are equivalent) 11p14.2 DYT23 GENX-3947 dystonia 23 transmembrane protein 16C (eight membrane-spanning domains) ClinVar:ANO3 Ensembl:ENSG00000134343 Genatlas:ANO3 HGNC:14004 OMIM:610110 Reactome:Q9BYT9 SwissProt:Q9BYT9 ANO3 anoctamin 3 10p14 2-oxoadipate dehydrogenase complex component E1 CMT2Q DKFZP762M115 E1a KIAA1630 MGC3090 OADC-E1 OADH-E1 ClinVar:DHTKD1 Ensembl:ENSG00000181192 Genatlas:DHTKD1 HGNC:23537 OMIM:614984 Reactome:Q96HY7 SwissProt:Q96HY7 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 2q12.3 CHT1 ChT High affinity choline transporter 1 hCHT ClinVar:SLC5A7 Ensembl:ENSG00000115665 Genatlas:SLC5A7 HGNC:14025 IUPHAR:914 OMIM:608761 Reactome:Q9GZV3 SwissProt:Q9GZV3 SLC5A7 solute carrier family 5 member 7 2p13.1 ACTSG ClinVar:ACTG2 Ensembl:ENSG00000163017 Genatlas:ACTG2 HGNC:145 OMIM:102545 Reactome:P63267 SwissProt:P63267 ACTG2 actin gamma 2, smooth muscle Isolated mitochondrial respiratory chain complex II deficiency Isolated succinate dehydrogenase deficiency Isolated succinate-coenzyme Q reductase deficiency Isolated succinate-ubiquinone reductase deficiency A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity. Orphanet ICD-10:G71.3 ICD-11:5C53.2Y MeSH:C565375 OMIM:252011 OMIM:619166 OMIM:619167 OMIM:619224 UMLS:C5679823 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3208 Isolated succinate-CoQ reductase deficiency ORPHA:3208 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565375 E (Exact mapping: the two concepts are equivalent) OMIM:252011 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619166 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619167 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619224 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679823 E (Exact mapping: the two concepts are equivalent) 2q32.2-q32.3 ClinVar:STAT4 Ensembl:ENSG00000138378 Genatlas:STAT4 HGNC:11365 OMIM:600558 Reactome:Q14765 SwissProt:Q14765 STAT4 signal transducer and activator of transcription 4 Bessel-Hagen disease Multiple cartilaginous exostoses A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones. Orphanet ICD-10:Q78.6 ICD-11:LD24.20 OMIM:133700 OMIM:133701 OMIM:600209 UMLS:C0206641 Autosomal dominant Childhood Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 1.35 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 100.0 AND has_point_prevalence_range : >1 / 1000 United Kingdom AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=321 Multiple osteochondromas ORPHA:321 ICD-10:Q78.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:133700 E (Exact mapping: the two concepts are equivalent) OMIM:133701 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600209 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0206641 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Carpenter syndrome ICD-10:Q82.0 MeSH:C538142 OMIM:272350 UMLS:C1802405 Summitt syndrome ORPHA:3210 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538142 E (Exact mapping: the two concepts are equivalent) OMIM:272350 E (Exact mapping: the two concepts are equivalent) UMLS:C1802405 E (Exact mapping: the two concepts are equivalent) Autosomal dominant optic atrophy and congenital hearing loss Konigsmark-Knox-Hussels syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant optic atrophy plus syndrome OMIM:125250 UMLS:C2931440 Autosomal dominant optic atrophy and congenital deafness ORPHA:3212 OMIM:125250 E (Exact mapping: the two concepts are equivalent) UMLS:C2931440 E (Exact mapping: the two concepts are equivalent) Jensen syndrome hearing loss-opticoacoustic nerve atrophy-dementia syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mohr-Tranebjaerg syndrome UMLS:C1839564 Deafness-opticoacoustic nerve atrophy-dementia syndrome ORPHA:3213 UMLS:C1839564 E (Exact mapping: the two concepts are equivalent) 12q13.3 C/EBP homologous protein C/EBP zeta CHOP CHOP10 GADD153 growth arrest and DNA-damage-inducible gene ClinVar:DDIT3 Ensembl:ENSG00000175197 Genatlas:DDIT3 HGNC:2726 OMIM:126337 Reactome:P35638 SwissProt:P35638 DDIT3 DNA damage inducible transcript 3 12q15 HDM2 MGC5370 ClinVar:MDM2 Ensembl:ENSG00000135679 Genatlas:MDM2 HGNC:6973 IUPHAR:3136 OMIM:164785 Reactome:Q00987 SwissProt:Q00987 MDM2 MDM2 proto-oncogene 16q23.1 ALYE870 FLJ22167 JBTS20 MKS11 PRO1886 ClinVar:TMEM231 Ensembl:ENSG00000205084 Genatlas:TMEM231 HGNC:37234 OMIM:614949 SwissProt:Q9H6L2 TMEM231 transmembrane protein 231 Warburg-Thomsen syndrome Yemenite deaf-blind hypopigmentation syndrome Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Orphanet ICD-10:Q13.8 ICD-11:LD2H.Y MeSH:C536771 OMIM:601706 UMLS:C1866425 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3214 Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536771 E (Exact mapping: the two concepts are equivalent) OMIM:601706 E (Exact mapping: the two concepts are equivalent) UMLS:C1866425 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Davenport-Donlan syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic genetic deafness OBSOLETE: Deafness-white hair-contractures-papillomas syndrome ORPHA:3215 4q25 SPG49 spastic paraplegia 49 ClinVar:CYP2U1 Ensembl:ENSG00000155016 Genatlas:CYP2U1 HGNC:20582 IUPHAR:1335 OMIM:610670 Reactome:Q7Z449 SwissProt:Q7Z449 CYP2U1 cytochrome P450 family 2 subfamily U member 1 8p11.23 KIAA0725 SPG54 iPLA1? iPLA1gamma intracellular phospholipase A1 gamma p125B ClinVar:DDHD2 Ensembl:ENSG00000085788 Genatlas:DDHD2 HGNC:29106 OMIM:615003 Reactome:O94830 SwissProt:O94830 DDHD2 DDHD domain containing 2 14q32.33 ClinVar:TECPR2 Ensembl:ENSG00000196663 Genatlas:TECPR2 HGNC:19957 OMIM:615000 SwissProt:O15040 TECPR2 tectonin beta-propeller repeat containing 2 Conductive hearing loss-malformed external ear syndrome Mengel-Konigsmark syndrome A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. Orphanet ICD-10:Q17.8 MeSH:C537239 OMIM:221300 UMLS:C2931454 Unknown Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3216 Conductive deafness-malformed external ear syndrome ORPHA:3216 ICD-10:Q17.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537239 E (Exact mapping: the two concepts are equivalent) OMIM:221300 E (Exact mapping: the two concepts are equivalent) UMLS:C2931454 E (Exact mapping: the two concepts are equivalent) 14q11.2 DUPLIN KIAA1564 ClinVar:CHD8 Ensembl:ENSG00000100888 Genatlas:CHD8 HGNC:20153 OMIM:610528 Reactome:Q9HCK8 SwissProt:Q9HCK8 CHD8 chromodomain helicase DNA binding protein 8 17p13.2 FLJ10060 GPCR42 PAR2 RFVT1 Riboflavin transporter 1 hRFT1 riboflavin transporter 1 ClinVar:SLC52A1 Ensembl:ENSG00000132517 Genatlas:SLC52A1 HGNC:30225 IUPHAR:2571 OMIM:607883 Reactome:Q9NWF4 SwissProt:Q9NWF4 SLC52A1 solute carrier family 52 member 1 Groll-Hirschowitz syndrome Hearing loss-small bowel diverticulosis-neuropathy syndrome A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:G60.8 ICD-11:LD2H.Y MeSH:C537305 OMIM:221400 UMLS:C1857338 Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3217 Deafness-small bowel diverticulosis-neuropathy syndrome ORPHA:3217 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537305 E (Exact mapping: the two concepts are equivalent) OMIM:221400 E (Exact mapping: the two concepts are equivalent) UMLS:C1857338 E (Exact mapping: the two concepts are equivalent) Chitty-Hall-Baraitser syndrome Hearing loss-epiphyseal dysplasia-short stature syndrome A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Orphanet ICD-10:Q87.5 ICD-11:LD2H.Y MeSH:C535928 OMIM:601351 UMLS:C1832438 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3218 Deafness-epiphyseal dysplasia-short stature syndrome ORPHA:3218 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535928 E (Exact mapping: the two concepts are equivalent) OMIM:601351 E (Exact mapping: the two concepts are equivalent) UMLS:C1832438 E (Exact mapping: the two concepts are equivalent) Deafness-skeletal dysplasia-coarse face with full lips syndrome Deafness-skeletal dysplasia-lip granuloma syndrome Hearing loss-skeletal dysplasia-coarse face with full lips syndrome Hearing loss-skeletal dysplasia-lip granuloma syndrome Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C537270 MedDRA:10083946 OMIM:229120 UMLS:C0795944 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3219 Fountain syndrome ORPHA:3219 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537270 E (Exact mapping: the two concepts are equivalent) MedDRA:10083946 E (Exact mapping: the two concepts are equivalent) OMIM:229120 E (Exact mapping: the two concepts are equivalent) UMLS:C0795944 E (Exact mapping: the two concepts are equivalent) BEEC Bladder exstrophy-epispadias-cloacal extrophy complex EEC Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. Orphanet ICD-10:Q64.1 MeSH:C564009 OMIM:258040 OMIM:600057 UMLS:C1838703 Multigenic/multifactorial Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=322 Exstrophy-epispadias complex ORPHA:322 ICD-10:Q64.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564009 E (Exact mapping: the two concepts are equivalent) OMIM:258040 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600057 E (Exact mapping: the two concepts are equivalent) UMLS:C1838703 E (Exact mapping: the two concepts are equivalent) Hearing loss-enamel hypoplasia-nail defects syndrome Heimler syndrome A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C535994 OMIM:234580 OMIM:616617 UMLS:C1856186 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 15.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3220 Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535994 E (Exact mapping: the two concepts are equivalent) OMIM:234580 E (Exact mapping: the two concepts are equivalent) OMIM:616617 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1856186 E (Exact mapping: the two concepts are equivalent) 6p21.31 FLJ38755 dJ50J22.1 ClinVar:PNPLA1 Ensembl:ENSG00000180316 Genatlas:PNPLA1 HGNC:21246 OMIM:612121 SwissProt:Q8N8W4 PNPLA1 patatin like phospholipase domain containing 1 Deafness-thyroid hormone resistance syndrome Hearing loss-thyroid hormone resistance syndrome Refetoff syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Generalized resistance to thyroid hormone ORPHA:3221 4q25 CSNB1F FIGLER4 FLJ44691 Fibronectin type III, immunoglobulin and leucine rich repeat domains 4 fibronectin type III, immunoglobulin and leucine rich repeat domains 4 ClinVar:LRIT3 Ensembl:ENSG00000183423 Genatlas:LRIT3 HGNC:24783 OMIM:615004 SwissProt:Q3SXY7 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 1q23.3 CD32 CD32B Fc gamma receptor IIb FcGRIIB FcgammaRIIb ClinVar:FCGR2B Ensembl:ENSG00000072694 Genatlas:FCGR2B HGNC:3618 OMIM:604590 Reactome:P31994 SwissProt:P31994 FCGR2B Fc fragment of IgG receptor IIb UMLS:C5680961 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=322126 Genetic tumor of hematopoietic and lymphoid tissues Category ORPHA:322126 UMLS:C5680961 E (Exact mapping: the two concepts are equivalent) PRPP synthetase superactivity PRPS1 superactivity A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. Orphanet ICD-10:E79.8 ICD-11:5C55.0Y MeSH:C567064 OMIM:300661 UMLS:C1970827 X-linked recessive Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3222 Phosphoribosylpyrophosphate synthetase superactivity ORPHA:3222 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567064 E (Exact mapping: the two concepts are equivalent) OMIM:300661 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1970827 E (Exact mapping: the two concepts are equivalent) Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome Pfeiffer-Kapferer syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C537887 UMLS:C2931654 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537887 E (Exact mapping: the two concepts are equivalent) UMLS:C2931654 E (Exact mapping: the two concepts are equivalent) Tungland-Bellman syndrome Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Orphanet ICD-10:E34.8 ICD-11:LD2H.Y UMLS:C4274756 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome ORPHA:3225 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274756 E (Exact mapping: the two concepts are equivalent) Emberger syndrome Hearing loss-lymphedema-leukemia syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GATA2 deficiency spectrum ICD-10:D46.7 ICD-11:BD93.0 OMIM:614038 UMLS:C3279664 Deafness-lymphedema-leukemia syndrome ORPHA:3226 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614038 E (Exact mapping: the two concepts are equivalent) UMLS:C3279664 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome ORPHA:3228 17q21.31 MOX1 ClinVar:MEOX1 Ensembl:ENSG00000005102 Genatlas:MEOX1 HGNC:7013 OMIM:600147 Reactome:P50221 SwissProt:P50221 MEOX1 mesenchyme homeobox 1 1q32.1 Sm-E ClinVar:SNRPE Ensembl:ENSG00000182004 Genatlas:SNRPE HGNC:11161 OMIM:128260 Reactome:P62304 SwissProt:P62304 SNRPE small nuclear ribonucleoprotein polypeptide E This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic genetic deafness OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome ORPHA:3229 10p11.21-q21.1 HGNC:43724 USH1K Usher syndrome 1K (autosomal recessive) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: FG syndrome phenotypic spectrum ORPHA:323 Hearing loss-oligodontia syndrome Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Orphanet ICD-10:H90.3 ICD-11:LD2H.Y MeSH:C538049 OMIM:221740 UMLS:C1857333 Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3230 Deafness-oligodontia syndrome ORPHA:3230 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538049 E (Exact mapping: the two concepts are equivalent) OMIM:221740 E (Exact mapping: the two concepts are equivalent) UMLS:C1857333 E (Exact mapping: the two concepts are equivalent) Hearing loss-onychodystrophy syndrome Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. Orphanet OMIM:124480 OMIM:220500 UMLS:C4751208 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3231 Deafness-onychodystrophy syndrome Clinical group ORPHA:3231 OMIM:124480 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:220500 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751208 E (Exact mapping: the two concepts are equivalent) Hearing loss-ear malformation-facial palsy syndrome Sellars-Beighton syndrome Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y OMIM:124490 UMLS:C4274753 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3232 Deafness-ear malformation-facial palsy syndrome ORPHA:3232 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:124490 E (Exact mapping: the two concepts are equivalent) UMLS:C4274753 E (Exact mapping: the two concepts are equivalent) Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. Orphanet ICD-10:H83.8 ICD-11:LD2H.Y MeSH:C536432 OMIM:120040 UMLS:C1861512 Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3233 Cochleosaccular degeneration-cataract syndrome ORPHA:3233 ICD-10:H83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536432 E (Exact mapping: the two concepts are equivalent) OMIM:120040 E (Exact mapping: the two concepts are equivalent) UMLS:C1861512 E (Exact mapping: the two concepts are equivalent) 19q13.33 CILD20 FLJ32926 ClinVar:CCDC114 Ensembl:ENSG00000105479 Genatlas:CCDC114 HGNC:26560 OMIM:615038 Reactome:Q96M63 SwissProt:Q96M63 ODAD1 outer dynein arm docking complex subunit 1 2q37.1 DINE Damage induced neuronal endopeptidase XCE damage induced neuronal endopeptidase ClinVar:ECEL1 Ensembl:ENSG00000171551 Genatlas:ECEL1 HGNC:3147 OMIM:605896 SwissProt:O95672 ECEL1 endothelin converting enzyme like 1 11q13.4 51C protein SH2 domain-containing inositol 5'-phosphatase 2 SHIP2 phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 ClinVar:INPPL1 Ensembl:ENSG00000165458 Genatlas:INPPL1 HGNC:6080 IUPHAR:1459 OMIM:600829 Reactome:O15357 SwissProt:O15357 INPPL1 inositol polyphosphate phosphatase like 1 18q12.3-q21.1 hEPG5 ClinVar:EPG5 Ensembl:ENSG00000152223 Genatlas:EPG5 HGNC:29331 OMIM:615068 SwissProt:Q9HCE0 EPG5 ectopic P-granules 5 autophagy tethering factor 4p16.3 pHZ-44 ClinVar:ZNF141 Ensembl:ENSG00000131127 Genatlas:ZNF141 HGNC:12926 OMIM:194648 Reactome:Q15928 SwissProt:Q15928 ZNF141 zinc finger protein 141 9p23 MUPP1 ClinVar:MPDZ Ensembl:ENSG00000107186 Genatlas:MPDZ HGNC:7208 OMIM:603785 Reactome:O75970 SwissProt:O75970 MPDZ multiple PDZ domain crumbs cell polarity complex component Progressive hearing loss with stapes fixation Stapedo-vestibular ankylosis Thies-Reis syndrome Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Orphanet ICD-10:H74.3 ICD-11:LD2H.2 MeSH:C563316 OMIM:601449 UMLS:C1832354 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3235 Progressive deafness with stapes fixation ORPHA:3235 ICD-10:H74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C563316 E (Exact mapping: the two concepts are equivalent) OMIM:601449 E (Exact mapping: the two concepts are equivalent) UMLS:C1832354 E (Exact mapping: the two concepts are equivalent) Conductive hearing loss-ptosis-skeletal anomalies syndrome Jackson-Barr syndrome Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C535993 OMIM:221320 UMLS:C1857340 No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3236 Conductive deafness-ptosis-skeletal anomalies syndrome ORPHA:3236 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535993 E (Exact mapping: the two concepts are equivalent) OMIM:221320 E (Exact mapping: the two concepts are equivalent) UMLS:C1857340 E (Exact mapping: the two concepts are equivalent) Deafness-Hermann type symphalangism syndrome Facio-audio-symphalangism Hearing loss-Hermann type symphalangism syndrome Symphalangism-brachydactyly syndrome WL syndrome Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. Orphanet ICD-10:Q78.8 ICD-11:LD26.3 OMIM:186500 OMIM:610017 OMIM:612961 UMLS:C0175700 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3237 Multiple synostoses syndrome ORPHA:3237 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:186500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610017 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612961 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0175700 E (Exact mapping: the two concepts are equivalent) Forney syndrome Forney-Robinson-Pascoe syndrome Mitral regurgitation-deafness-skeletal anomalies syndrome Mitral regurgitation-hearing loss-skeletal anomalies syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C537269 OMIM:157800 UMLS:C2931461 Autosomal dominant All ages Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3238 Cardiospondylocarpofacial syndrome ORPHA:3238 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537269 E (Exact mapping: the two concepts are equivalent) OMIM:157800 E (Exact mapping: the two concepts are equivalent) UMLS:C2931461 E (Exact mapping: the two concepts are equivalent) Hearing loss-vitiligo-achalasia syndrome Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y OMIM:221350 UMLS:C4518568 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3239 Deafness-vitiligo-achalasia syndrome ORPHA:3239 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:221350 E (Exact mapping: the two concepts are equivalent) UMLS:C4518568 E (Exact mapping: the two concepts are equivalent) Alpha-galactosidase A deficiency Anderson-Fabry disease FD A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation. Orphanet ICD-10:E75.2 ICD-11:5C56.01 MeSH:D000795 MedDRA:10016016 OMIM:301500 UMLS:C0002986 X-linked dominant X-linked recessive Adolescent Adult Childhood Australia AND has_birth_prevalence_average_value : 6.96 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.118 AND has_point_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.52 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 1.11 AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 0.015 AND has_birth_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 6.66 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324 Fabry disease ORPHA:324 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000795 E (Exact mapping: the two concepts are equivalent) MedDRA:10016016 E (Exact mapping: the two concepts are equivalent) OMIM:301500 E (Exact mapping: the two concepts are equivalent) UMLS:C0002986 E (Exact mapping: the two concepts are equivalent) Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. Orphanet ICD-10:G93.8 ICD-11:LD2H.Y UMLS:C4512024 Autosomal recessive No data available Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4512024 E (Exact mapping: the two concepts are equivalent) Hearing loss-craniofacial syndrome Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. Orphanet ICD-10:Q87.0 ICD-11:LD2H.Y MeSH:C565118 OMIM:125230 UMLS:C1852278 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3241 Deafness-craniofacial syndrome ORPHA:3241 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565118 E (Exact mapping: the two concepts are equivalent) OMIM:125230 E (Exact mapping: the two concepts are equivalent) UMLS:C1852278 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature. Orphanet ICD-10:Q87.5 ICD-11:LD90.Y OMIM:309500 UMLS:C0796135 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 64.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3242 Renpenning syndrome ORPHA:3242 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309500 E (Exact mapping: the two concepts are equivalent) UMLS:C0796135 E (Exact mapping: the two concepts are equivalent) 16q22.1 ARC CARD2 MYP NOP30 ClinVar:NOL3 Ensembl:ENSG00000140939 Genatlas:NOL3 HGNC:7869 OMIM:605235 Reactome:O60936 SwissProt:O60936 NOL3 nucleolar protein 3 8p22 FLJ32642 HCRP1 SPG53 hepatocellular carcinoma related protein 1 ClinVar:VPS37A Ensembl:ENSG00000155975 Genatlas:VPS37A HGNC:24928 OMIM:609927 Reactome:Q8NEZ2 SwissProt:Q8NEZ2 VPS37A VPS37A subunit of ESCRT-I Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency Autosomal recessive spinocerebellar ataxia type 13 SCAR13 A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. Orphanet ICD-10:G11.1 ICD-11:5C50.Y OMIM:614831 UMLS:C3553816 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Clinical subtype ORPHA:324262 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614831 E (Exact mapping: the two concepts are equivalent) UMLS:C3553816 E (Exact mapping: the two concepts are equivalent) A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. Orphanet ICD-10:G40.3 ICD-11:8A61.41 OMIM:616640 UMLS:C4518574 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324290 Early-onset Lafora body disease ORPHA:324290 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616640 E (Exact mapping: the two concepts are equivalent) UMLS:C4518574 E (Exact mapping: the two concepts are equivalent) T-cell immunodeficiency due to RHOH deficiency A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. Orphanet ICD-10:D84.8 OMIM:618307 UMLS:C4749500 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324294 T-cell immunodeficiency with epidermodysplasia verruciformis ORPHA:324294 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618307 E (Exact mapping: the two concepts are equivalent) UMLS:C4749500 E (Exact mapping: the two concepts are equivalent) Multiple paragangliomas associated with erythrocytosis Paraganglioma-somatostatinoma-polycythemia syndrome A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple paragangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. Orphanet ICD-10:D75.1 UMLS:C5679884 Not applicable Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324299 Multiple paragangliomas associated with polycythemia ORPHA:324299 ICD-10:D75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679884 E (Exact mapping: the two concepts are equivalent) Acute febrile neutrophilic dermatosis A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced. Orphanet ICD-10:L98.2 ICD-11:EB20 MeSH:D016463 MedDRA:10000748 OMIM:608068 UMLS:C0085077 Multigenic/multifactorial Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3243 Sweet syndrome ORPHA:3243 ICD-10:L98.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016463 E (Exact mapping: the two concepts are equivalent) MedDRA:10000748 E (Exact mapping: the two concepts are equivalent) OMIM:608068 E (Exact mapping: the two concepts are equivalent) UMLS:C0085077 E (Exact mapping: the two concepts are equivalent) Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. Orphanet ICD-10:Q68.4 UMLS:C4707850 Unknown Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome ORPHA:324307 ICD-10:Q68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707850 E (Exact mapping: the two concepts are equivalent) Del(9)(p13) Monosomy 9p13 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). Orphanet ICD-10:Q93.5 UMLS:C4707097 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324313 9p13 microdeletion syndrome ORPHA:324313 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707097 E (Exact mapping: the two concepts are equivalent) Sinoatrial node dysfunction and hearing loss Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. Orphanet ICD-10:H91.8 OMIM:614896 UMLS:C3554018 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324321 Sinoatrial node dysfunction and deafness ORPHA:324321 ICD-10:H91.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614896 E (Exact mapping: the two concepts are equivalent) UMLS:C3554018 E (Exact mapping: the two concepts are equivalent) Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. Orphanet ICD-10:H47.4 UMLS:C4518345 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324353 Congenital achiasma ORPHA:324353 ICD-10:H47.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518345 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated. Orphanet ICD-10:M85.8 UMLS:C5191052 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations ORPHA:324364 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191052 E (Exact mapping: the two concepts are equivalent) HIBM4 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. Orphanet ICD-10:G71.8 UMLS:C4749501 Autosomal dominant Adult Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324381 Hereditary inclusion body myopathy type 4 ORPHA:324381 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749501 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300886 UMLS:C4751008 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ORPHA:324410 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300886 E (Exact mapping: the two concepts are equivalent) UMLS:C4751008 E (Exact mapping: the two concepts are equivalent) Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. Orphanet ICD-10:Q87.8 UMLS:C4751007 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome ORPHA:324416 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751007 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Is CDG-Is CDG1S Congenital disorder of glycosylation type 1s Congenital disorder of glycosylation type Is A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene <i>ALG13</i> (Xq23). Orphanet ICD-10:E77.8 ICD-11:5C54.0 OMIM:300884 UMLS:C4317295 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324422 ALG13-CDG ORPHA:324422 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300884 E (Exact mapping: the two concepts are equivalent) UMLS:C4317295 E (Exact mapping: the two concepts are equivalent) ARAN-NM ARCMT2-NM Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. Orphanet ICD-10:G60.0 OMIM:137200 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 33.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324442 Autosomal recessive axonal neuropathy with neuromyotonia ORPHA:324442 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:137200 E (Exact mapping: the two concepts are equivalent) Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. Orphanet ICD-10:E88.8 UMLS:C4749942 No data available Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749942 E (Exact mapping: the two concepts are equivalent) APLAID A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Orphanet ICD-10:D89.8 OMIM:614878 UMLS:C3553961 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ORPHA:324530 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614878 E (Exact mapping: the two concepts are equivalent) UMLS:C3553961 E (Exact mapping: the two concepts are equivalent) COXPD11 A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy. Orphanet ICD-10:E88.8 OMIM:614922 UMLS:C5190991 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324535 Combined oxidative phosphorylation defect type 11 ORPHA:324535 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614922 E (Exact mapping: the two concepts are equivalent) UMLS:C5190991 E (Exact mapping: the two concepts are equivalent) Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. Orphanet ICD-10:Q87.0 UMLS:C4751006 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome ORPHA:324540 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751006 E (Exact mapping: the two concepts are equivalent) Cole disease Guttate hypopigmentation and punctate palmoplantar keratoderma Hypopigmentation and punctate keratosis of the palms and soles A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated. Orphanet ICD-10:Q82.8 OMIM:615522 UMLS:C3809781 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome ORPHA:324561 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615522 E (Exact mapping: the two concepts are equivalent) UMLS:C3809781 E (Exact mapping: the two concepts are equivalent) PCH8 Pontocerebellar hypoplasia due to CHMP1A mutation Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the <i>CHMP1A</i> gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. Orphanet ICD-10:Q04.3 OMIM:614961 UMLS:C3554209 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324569 Pontocerebellar hypoplasia type 8 ORPHA:324569 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614961 E (Exact mapping: the two concepts are equivalent) UMLS:C3554209 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life. Orphanet ICD-10:E16.1 UMLS:C4303475 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324575 Hyperinsulinism due to HNF1A deficiency ORPHA:324575 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303475 E (Exact mapping: the two concepts are equivalent) Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. Orphanet ICD-10:G71.2 UMLS:C4749502 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324581 Benign Samaritan congenital myopathy ORPHA:324581 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749502 E (Exact mapping: the two concepts are equivalent) Autosomal dominant intermediate CMT disease with neuropathic pain A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles. Orphanet ICD-10:G60.0 ICD-11:8C20.2 UMLS:C4755257 Autosomal dominant All ages Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain ORPHA:324585 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755257 E (Exact mapping: the two concepts are equivalent) FDFM Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. Orphanet ICD-10:G51.4 MeSH:C564676 OMIM:606703 UMLS:C1847627 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324588 Familial dyskinesia and facial myokymia ORPHA:324588 ICD-10:G51.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564676 E (Exact mapping: the two concepts are equivalent) OMIM:606703 E (Exact mapping: the two concepts are equivalent) UMLS:C1847627 E (Exact mapping: the two concepts are equivalent) Learman syndrome Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:Q74.8 MeSH:C566098 OMIM:185750 UMLS:C1861391 Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3246 Symphalangism with multiple anomalies of hands and feet ORPHA:3246 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566098 E (Exact mapping: the two concepts are equivalent) OMIM:185750 E (Exact mapping: the two concepts are equivalent) UMLS:C1861391 E (Exact mapping: the two concepts are equivalent) X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. Orphanet ICD-10:Q38.6 OMIM:303400 UMLS:C4707825 X-linked dominant X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324601 X-linked cleft palate and ankyloglossia ORPHA:324601 ICD-10:Q38.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:303400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707825 E (Exact mapping: the two concepts are equivalent) Classic MmD Classic multiminicore disease ICD-10:G71.2 ICD-11:8C72.0Y OMIM:602771 UMLS:C5679883 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324604 Classic multiminicore myopathy Clinical subtype ORPHA:324604 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602771 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679883 E (Exact mapping: the two concepts are equivalent) CMT2 due to KIF5A mutation A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. Orphanet ICD-10:G60.0 UMLS:C4707173 Autosomal dominant Adolescent Adult Childhood Elderly Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation ORPHA:324611 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707173 E (Exact mapping: the two concepts are equivalent) A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression. Orphanet ICD-10:A92.0 ICD-11:1D40 MeSH:D065632 UMLS:C0008055 Not applicable All ages Belgium AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_range : <1 / 1 000 000 Hungary AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324625 Chikungunya ORPHA:324625 ICD-10:A92.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065632 E (Exact mapping: the two concepts are equivalent) UMLS:C0008055 E (Exact mapping: the two concepts are equivalent) Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. Orphanet ICD-10:B33.8 UMLS:C4505487 All ages Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324632 Hendra virus infection ORPHA:324632 ICD-10:B33.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4505487 E (Exact mapping: the two concepts are equivalent) GDS Gardner-Diamond syndrome Painful bruising syndrome Psychogenic purpura A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women. Orphanet ICD-10:D69.2 ICD-11:ED02 MeSH:C535645 MedDRA:10078888 UMLS:C0301928 Adult Worldwide AND has_cases/families_value : 170.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324636 Autoerythrocyte sensitization syndrome ORPHA:324636 ICD-10:D69.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535645 E (Exact mapping: the two concepts are equivalent) MedDRA:10078888 E (Exact mapping: the two concepts are equivalent) UMLS:C0301928 E (Exact mapping: the two concepts are equivalent) Invasive non-typhoidal salmonella disease iNTS disease Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of <i> Salmonella enterica </i> in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed. Orphanet ICD-10:A02.8 UMLS:C4706572 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324648 Invasive non-typhoidal salmonellosis ORPHA:324648 ICD-10:A02.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706572 E (Exact mapping: the two concepts are equivalent) ABeta amyloidosis, Piedmont type ABetaL34V-related amyloidosis HCHWA, Piedmont type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:605714 UMLS:C5679882 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324703 ABetaL34V amyloidosis Clinical subtype ORPHA:324703 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605714 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679882 E (Exact mapping: the two concepts are equivalent) ABetaD23N amyloidosis HCHWA, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Iowa type A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:605714 UMLS:C5679881 Autosomal dominant Elderly Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324708 ABeta amyloidosis, Iowa type Clinical subtype ORPHA:324708 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605714 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679881 E (Exact mapping: the two concepts are equivalent) ABetaE22K amyloidosis HCHWA, Italian type Hereditary cerebral hemorrhage with amyloidosis, Italian type A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:605714 UMLS:C5679879 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324713 ABeta amyloidosis, Italian type Clinical subtype ORPHA:324713 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605714 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679879 E (Exact mapping: the two concepts are equivalent) ABeta amyloidosis, Flemish type ABetaA21G-related amyloidosis HCHWA, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Flemish type A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:605714 UMLS:C5679878 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324718 ABetaA21G amyloidosis Clinical subtype ORPHA:324718 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605714 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679878 E (Exact mapping: the two concepts are equivalent) ABetaE22G amyloidosis HCHWA, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Arctic type A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:605714 UMLS:C5679880 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324723 ABeta amyloidosis, Arctic type Clinical subtype ORPHA:324723 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605714 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679880 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Iq CDG-Iq CDG1Q Congenital disorder of glycosylation type 1q Congenital disorder of glycosylation type Iq SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Orphanet ICD-10:E77.8 ICD-11:5C54.0 OMIM:612379 UMLS:C4317224 Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324737 SRD5A3-CDG ORPHA:324737 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612379 E (Exact mapping: the two concepts are equivalent) UMLS:C4317224 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324761 Microcephalic primordial dwarfism Clinical group ORPHA:324761 MedDRA:10051956 UMLS:C0265255 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324764 Trichorhinophalangeal syndrome Clinical group ORPHA:324764 MedDRA:10051956 E (Exact mapping: the two concepts are equivalent) UMLS:C0265255 E (Exact mapping: the two concepts are equivalent) UMLS:C5680960 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324767 Non-familial rare disease with dilated cardiomyopathy Category ORPHA:324767 UMLS:C5680960 E (Exact mapping: the two concepts are equivalent) Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet. Orphanet ICD-10:Q70.9 ICD-11:LB90.Y OMIM:185700 UMLS:C1861401 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3248 Isolated distal symphalangism ORPHA:3248 ICD-10:Q70.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:185700 E (Exact mapping: the two concepts are equivalent) UMLS:C1861401 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324924 Hereditary periodic fever syndrome Category ORPHA:324924 UMLS:C5680956 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324927 Pyogenic autoinflammatory syndrome Category ORPHA:324927 UMLS:C5680956 E (Exact mapping: the two concepts are equivalent) UMLS:C5680957 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324930 Granulomatous autoinflammatory syndrome Category ORPHA:324930 UMLS:C5680957 E (Exact mapping: the two concepts are equivalent) A group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems. Orphanet UMLS:C5680958 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324933 Mixed autoinflammatory and autoimmune syndrome Category ORPHA:324933 UMLS:C5680958 E (Exact mapping: the two concepts are equivalent) UMLS:C5680959 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324936 Unclassified autoinflammatory syndrome Category ORPHA:324936 UMLS:C5680959 E (Exact mapping: the two concepts are equivalent) UMLS:C5680952 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324939 Periodic fever syndrome of childhood Category ORPHA:324939 UMLS:C5680952 E (Exact mapping: the two concepts are equivalent) UMLS:C5680953 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324942 Pyogenic autoinflammatory syndrome of childhood Category ORPHA:324942 UMLS:C5680953 E (Exact mapping: the two concepts are equivalent) UMLS:C5680954 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324950 Granulomatous autoinflammatory syndrome of childhood Category ORPHA:324950 UMLS:C5680954 E (Exact mapping: the two concepts are equivalent) UMLS:C5680955 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324953 Unclassified autoinflammatory syndrome of childhood Category ORPHA:324953 UMLS:C5680955 E (Exact mapping: the two concepts are equivalent) UMLS:C5680951 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324960 Unexplained periodic fever syndrome of childhood Category ORPHA:324960 UMLS:C5680951 E (Exact mapping: the two concepts are equivalent) CNO/CRMO Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. Orphanet ICD-10:M86.3 ICD-11:4A6Y OMIM:259680 UMLS:C5679877 Not applicable Adolescent Childhood Worldwide AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis ORPHA:324964 ICD-10:M86.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:259680 E (Exact mapping: the two concepts are equivalent) UMLS:C5679877 E (Exact mapping: the two concepts are equivalent) Mouth and genital ulcers-inflamed cartilage syndrome A rare autoinflammatory syndrome characterized by the presence of features of relapsing polychondritis and Behçet's disease in the same individual. This includes cartilage inflammation of the ears, nose, throat, and rib cage, as well as recurrent oral and genital ulcers, respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, central nervous system vasculitis, or, in rare cases, arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behçet's disease in the vast majority of cases. Orphanet ICD-10:D89.8 MedDRA:10078132 UMLS:C0406568 Adolescent Adult Childhood Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324972 MAGIC syndrome ORPHA:324972 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10078132 E (Exact mapping: the two concepts are equivalent) UMLS:C0406568 E (Exact mapping: the two concepts are equivalent) ALDD syndrome Autoinflammation-lipodystrophy-dermatosis syndrome PRAAS Proteasome disability syndrome A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly. Orphanet ICD-10:D89.8 OMIM:256040 OMIM:617591 OMIM:618048 OMIM:619175 OMIM:619183 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=324977 Proteasome-associated autoinflammatory syndrome ORPHA:324977 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:256040 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617591 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618048 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619175 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619183 BTNT (ORPHAcode is broader than the targeted code used to represent it) OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using SAPHO syndrome OBSOLETE: Adult-onset SAPHO syndrome ORPHA:324982 OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using SAPHO syndrome OBSOLETE: Juvenile-onset SAPHO syndrome ORPHA:324989 Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Proteasome-associated autoinflammatory syndrome JMP syndrome ORPHA:324999 Dysprothrombinemia Hypoprothrombinemia Prothrombin deficiency A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms. Orphanet ICD-10:D68.2 ICD-11:3B14.Z MedDRA:10016076 OMIM:613679 UMLS:C0272317 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325 Congenital factor II deficiency ORPHA:325 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10016076 E (Exact mapping: the two concepts are equivalent) OMIM:613679 E (Exact mapping: the two concepts are equivalent) UMLS:C0272317 E (Exact mapping: the two concepts are equivalent) Symphalangism, Cushing type A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. Orphanet ICD-10:Q70.9 ICD-11:LB90.Y MeSH:C536223 OMIM:185800 OMIM:615298 UMLS:C1861385 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3250 Proximal symphalangism ORPHA:3250 ICD-10:Q70.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536223 E (Exact mapping: the two concepts are equivalent) OMIM:185800 E (Exact mapping: the two concepts are equivalent) OMIM:615298 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1861385 E (Exact mapping: the two concepts are equivalent) Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Proteasome-associated autoinflammatory syndrome CANDLE syndrome ORPHA:325004 Xq21.1 ClinVar:COX7B Ensembl:ENSG00000131174 Genatlas:COX7B HGNC:2291 OMIM:300885 Reactome:P24311 SwissProt:P24311 COX7B cytochrome c oxidase subunit 7B 14q22.1 ClinVar:NIN Ensembl:ENSG00000100503 Genatlas:NIN HGNC:14906 OMIM:608684 Reactome:Q8N4C6 SwissProt:Q8N4C6 NIN ninein 12q23.2 LINC-HELLP Long intergenic non-protein coding RNA associated with HELLP syndrome long intergenic non-protein coding RNA associated with HELLP syndrome Ensembl:ENSG00000281344 HGNC:43984 OMIM:614985 HELLPAR HELLP associated long non-coding RNA UMLS:C5680950 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325055 46,XX disorder of gonadal development Category ORPHA:325055 UMLS:C5680950 E (Exact mapping: the two concepts are equivalent) 46,XX DSD induced by fetoplacental androgens excess 46,XX disorder of sex development induced by fetoplacental androgens excess UMLS:C5679876 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325061 46,XX difference of sex development induced by fetoplacental androgens excess Category ORPHA:325061 UMLS:C5679876 E (Exact mapping: the two concepts are equivalent) 46,XX DSD induced by endogenous maternal-derived androgen 46,XX disorder of sex development induced by endogenous maternal-derived androgen UMLS:C5679875 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325093 46,XX difference of sex development induced by endogenous maternal-derived androgen Clinical group ORPHA:325093 UMLS:C5679875 E (Exact mapping: the two concepts are equivalent) 46,XX DSD induced by exogenous maternal-derived androgen 46,XX disorder of sex development induced by exogenous maternal-derived androgen UMLS:C5679874 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325099 46,XX difference of sex development induced by exogenous maternal-derived androgen Clinical group ORPHA:325099 UMLS:C5679874 E (Exact mapping: the two concepts are equivalent) Syndrome with 46,XX DSD Syndrome with 46,XX disorder of sex development UMLS:C5679873 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325109 Syndrome with 46,XX difference of sex development Category ORPHA:325109 UMLS:C5679873 E (Exact mapping: the two concepts are equivalent) UMLS:C5680949 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325118 46,XY disorder of gonadal development Category ORPHA:325118 UMLS:C5680949 E (Exact mapping: the two concepts are equivalent) Bilateral anorchia A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels. Orphanet ICD-10:Q55.0 ICD-11:LD2A.2 MeSH:C537770 MedDRA:10002641 UMLS:C1261504 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325124 Testicular agenesis ORPHA:325124 ICD-10:Q55.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537770 E (Exact mapping: the two concepts are equivalent) MedDRA:10002641 E (Exact mapping: the two concepts are equivalent) UMLS:C1261504 E (Exact mapping: the two concepts are equivalent) 3q22.1 MRL3 uL3m ClinVar:MRPL3 Ensembl:ENSG00000114686 Genatlas:MRPL3 HGNC:10379 OMIM:607118 Reactome:P09001 SwissProt:P09001 MRPL3 mitochondrial ribosomal protein L3 22q11.21 ClinVar:CRKL Ensembl:ENSG00000099942 Genatlas:CRKL HGNC:2363 OMIM:602007 Reactome:P46109 SwissProt:P46109 CRKL CRK like proto-oncogene, adaptor protein 11p12 RING finger protein 85 RNF85 ClinVar:TRAF6 Ensembl:ENSG00000175104 Genatlas:TRAF6 HGNC:12036 OMIM:602355 Reactome:Q9Y4K3 SwissProt:Q9Y4K3 TRAF6 TNF receptor associated factor 6 Xq12 EDA-A2R EDAA2R TNFRSF27 X-linked EDA receptor XEDAR ClinVar:EDA2R Ensembl:ENSG00000131080 Genatlas:EDA2R HGNC:17756 IUPHAR:1896 OMIM:300276 Reactome:Q9HAV5 SwissProt:Q9HAV5 EDA2R ectodysplasin A2 receptor CLPED1 Cleft lip/palate-syndactyly-pili torti syndrome Syndactyly-ectodermal dysplasia-cleft/lip palate Zlotogora-Ogur syndrome Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C536726 OMIM:225060 UMLS:C2931488 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3253 Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536726 E (Exact mapping: the two concepts are equivalent) OMIM:225060 E (Exact mapping: the two concepts are equivalent) UMLS:C2931488 E (Exact mapping: the two concepts are equivalent) 46,XY ovotesticular DSD 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. Orphanet ICD-10:Q56.0 ICD-11:LD2A.0 UMLS:C4706535 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325345 46,XY ovotesticular difference of sex development ORPHA:325345 ICD-10:Q56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4706535 E (Exact mapping: the two concepts are equivalent) 46,XY DSD of endocrine origin 46,XY disorder of sex development of endocrine origin UMLS:C5679872 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325351 46,XY difference of sex development of endocrine origin Category ORPHA:325351 UMLS:C5679872 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to impaired androgen production 46,XY disorder of sex development due to impaired androgen production UMLS:C5679870 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325357 46,XY difference of sex development due to impaired androgen production Category ORPHA:325357 UMLS:C5679870 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency ICD-10:Q56.1 ICD-11:LD2A.3 OMIM:228300 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325448 Leydig cell hypoplasia due to LHB deficiency Clinical subtype ORPHA:325448 ICD-10:Q56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:228300 E (Exact mapping: the two concepts are equivalent) Type 1 syndactyly-microcephaly-intellectual disability syndrome Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C538152 MedDRA:10083943 OMIM:272440 UMLS:C0795940 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3255 Filippi syndrome ORPHA:3255 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538152 E (Exact mapping: the two concepts are equivalent) MedDRA:10083943 E (Exact mapping: the two concepts are equivalent) OMIM:272440 E (Exact mapping: the two concepts are equivalent) UMLS:C0795940 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to a cholesterol synthesis defect 46,XY disorder of sex development due to a cholesterol synthesis defect UMLS:C5679868 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325511 46,XY difference of sex development due to a cholesterol synthesis defect Category ORPHA:325511 UMLS:C5679868 E (Exact mapping: the two concepts are equivalent) Classic CLAH ICD-10:E25.0 ICD-11:5A71.01 UMLS:C5679869 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype ORPHA:325524 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679869 E (Exact mapping: the two concepts are equivalent) ICD-10:E25.0 ICD-11:5A71.01 UMLS:C5680948 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype ORPHA:325529 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680948 E (Exact mapping: the two concepts are equivalent) 46,XY DSD induced by maternal-exposure to endocrine disruptors 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors UMLS:C5679871 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors Category ORPHA:325537 UMLS:C5679871 E (Exact mapping: the two concepts are equivalent) Sex chromosome DSD Sex chromosome disorder of sex development MeSH:D058533 UMLS:C2936421 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325546 Sex chromosome difference of sex development Category ORPHA:325546 MeSH:D058533 E (Exact mapping: the two concepts are equivalent) UMLS:C2936421 E (Exact mapping: the two concepts are equivalent) DSD of gynecological interest Disorder of sex development of gynecological interest UMLS:C5679866 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325620 Difference of sex development of gynecological interest Category ORPHA:325620 UMLS:C5679866 E (Exact mapping: the two concepts are equivalent) 46,XY DSD of gynecological interest 46,XY disorder of sex development of gynecological interest UMLS:C5679867 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325632 46,XY difference of sex development of gynecological interest Category ORPHA:325632 UMLS:C5679867 E (Exact mapping: the two concepts are equivalent) Syndrome with DSD of gynecological interest Syndrome with disorder of sex development of gynecological interest UMLS:C5679864 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325638 Syndrome with difference of sex development of gynecological interest Category ORPHA:325638 UMLS:C5679864 E (Exact mapping: the two concepts are equivalent) Genetic DSD of gynecological interest Genetic disorder of sex development of gynecological interest UMLS:C5679865 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325665 Genetic difference of sex development of gynecological interest Category ORPHA:325665 UMLS:C5679865 E (Exact mapping: the two concepts are equivalent) 11p14.1-p11.2 HGNC:34382 OMIM:613364 SPG41 spastic paraplegia 41 (autosomal dominant) 12q23-q24 HGNC:33240 SPG36 spastic paraplegia 36 (autosomal dominant) Genetic DSD Genetic disorder of sex development UMLS:C5679861 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325690 Genetic difference of sex development Category ORPHA:325690 UMLS:C5679861 E (Exact mapping: the two concepts are equivalent) Genetic 46,XX DSD Genetic 46,XX disorder of sex development https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325697 Genetic 46,XX difference of sex development Category ORPHA:325697 Genetic 46,XY DSD Genetic 46,XY disorder of sex development UMLS:C5679863 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325706 Genetic 46,XY difference of sex development Category ORPHA:325706 UMLS:C5679863 E (Exact mapping: the two concepts are equivalent) Genetic 46,XY DSD of endocrine origin Genetic 46,XY disorder of sex development of endocrine origin UMLS:C5679862 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=325713 Genetic 46,XY difference of sex development of endocrine origin Category ORPHA:325713 UMLS:C5679862 E (Exact mapping: the two concepts are equivalent) Cenani syndactyly Cenani-Lenz syndactyly Syndactyly type 7 Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Orphanet ICD-10:Q78.4 ICD-11:LB79.Y MeSH:C538150 OMIM:212780 UMLS:C1859309 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3258 Cenani-Lenz syndrome ORPHA:3258 ICD-10:Q78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538150 E (Exact mapping: the two concepts are equivalent) OMIM:212780 E (Exact mapping: the two concepts are equivalent) UMLS:C1859309 E (Exact mapping: the two concepts are equivalent) A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. Orphanet ICD-10:Q74.8 OMIM:186350 UMLS:C5191039 Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3259 Syndactyly-polydactyly-ear lobe syndrome ORPHA:3259 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:186350 E (Exact mapping: the two concepts are equivalent) UMLS:C5191039 E (Exact mapping: the two concepts are equivalent) 3p22.2 Nav1.8 PN3 SNS hPN3 peripheral nerve sodium channel 3 sensory neuron sodium channel ClinVar:SCN10A Ensembl:ENSG00000185313 Genatlas:SCN10A HGNC:10582 IUPHAR:585 OMIM:604427 Reactome:Q9Y5Y9 SwissProt:Q9Y5Y9 SCN10A sodium voltage-gated channel alpha subunit 10 Owren disease Parahemophilia Proaccelerin deficiency Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. Orphanet ICD-10:D68.2 ICD-11:3B14.Z MeSH:D005166 MedDRA:10048930 OMIM:227400 UMLS:C0015499 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=326 Congenital factor V deficiency ORPHA:326 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005166 E (Exact mapping: the two concepts are equivalent) MedDRA:10048930 E (Exact mapping: the two concepts are equivalent) OMIM:227400 E (Exact mapping: the two concepts are equivalent) UMLS:C0015499 E (Exact mapping: the two concepts are equivalent) A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications. Orphanet ICD-10:D47.5 ICD-11:4B03.Z OMIM:607685 UMLS:C0206141 Not applicable Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3260 Idiopathic hypereosinophilic syndrome ORPHA:3260 ICD-10:D47.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B03.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607685 E (Exact mapping: the two concepts are equivalent) UMLS:C0206141 E (Exact mapping: the two concepts are equivalent) 1q44 FLJ43269 ClinVar:COX20 Ensembl:ENSG00000203667 Genatlas:COX20 HGNC:26970 OMIM:614698 Reactome:Q5RI15 SwissProt:Q5RI15 COX20 cytochrome c oxidase assembly factor COX20 4q22.1 BDP DKFZp761G058 PP2C-type mitochondrial phosphoprotein phosphatase PP2Ckappa PP2Cm branched-chain a-ketoacid dehydrogenase phosphatase branched-chain alpha-ketoacid dehydrogenase phosphatase hPTMP protein phosphatase 2C kappa ClinVar:PPM1K Ensembl:ENSG00000163644 Genatlas:PPM1K HGNC:25415 OMIM:611065 Reactome:Q8N3J5 SwissProt:Q8N3J5 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K 12q13.3 D12S1644 IL-4-STAT ClinVar:STAT6 Ensembl:ENSG00000166888 Genatlas:STAT6 HGNC:11368 IUPHAR:2993 OMIM:601512 Reactome:P42226 SwissProt:P42226 STAT6 signal transducer and activator of transcription 6 12q13.3 EGR1 binding protein 2 MADER ClinVar:NAB2 Ensembl:ENSG00000166886 Genatlas:NAB2 HGNC:7627 OMIM:602381 Reactome:Q15742 SwissProt:Q15742 NAB2 NGFI-A binding protein 2 16q21 ClinVar:BEAN1 Ensembl:ENSG00000166546 Genatlas:BEAN1 HGNC:24160 OMIM:612051 SwissProt:Q3B7T3 BEAN1 brain expressed associated with NEDD4 1 ALPS Canale-Smith syndrome A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. Orphanet ICD-10:D47.9 ICD-11:4A01.22 MeSH:D056735 MedDRA:10069521 OMIM:601859 OMIM:603909 OMIM:618534 UMLS:C1328840 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3261 Autoimmune lymphoproliferative syndrome ORPHA:3261 ICD-10:D47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056735 E (Exact mapping: the two concepts are equivalent) MedDRA:10069521 E (Exact mapping: the two concepts are equivalent) OMIM:601859 E (Exact mapping: the two concepts are equivalent) OMIM:603909 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618534 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1328840 E (Exact mapping: the two concepts are equivalent) Syngnathia-multiple anomalies syndrome A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others. Orphanet ICD-10:Q87.8 UMLS:C5190737 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3262 Dobrow syndrome ORPHA:3262 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190737 E (Exact mapping: the two concepts are equivalent) ICD-10:Q18.8 UMLS:C5680792 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3263 Syngnathia-cleft palate syndrome ORPHA:3263 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680792 E (Exact mapping: the two concepts are equivalent) Isolated congenital humeroradial fusion Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present. Orphanet ICD-10:Q74.0 ICD-11:LB90.1 OMIM:236400 UMLS:C2930865 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3265 Isolated humero-radial synostosis ORPHA:3265 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:236400 E (Exact mapping: the two concepts are equivalent) UMLS:C2930865 E (Exact mapping: the two concepts are equivalent) 12p13.31 HPH1 RAE28 ClinVar:PHC1 Ensembl:ENSG00000111752 Genatlas:PHC1 HGNC:3182 OMIM:602978 Reactome:P78364 SwissProt:P78364 PHC1 polyhomeotic homolog 1 Isolated congenital humero-radioulnar fusion Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. Orphanet ICD-10:Q74.0 ICD-11:LB90.0 UMLS:C4751207 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3266 Isolated humero-radio-ulnar synostosis ORPHA:3266 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4751207 E (Exact mapping: the two concepts are equivalent) 2q35 FLJ14199 ClinVar:DIRC3 Ensembl:ENSG00000231672 Genatlas:DIRC3 HGNC:17805 OMIM:608262 SwissProt:C9JPN6 DIRC3 disrupted in renal carcinoma 3 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic craniosynostosis OBSOLETE: Familial lambdoid synostosis ORPHA:3267 6p21.1 TCFEB bHLHe35 ClinVar:TFEB Ensembl:ENSG00000112561 Genatlas:TFEB HGNC:11753 OMIM:600744 SwissProt:P19484 TFEB transcription factor EB 17q23.1 Hc ClinVar:CLTC Ensembl:ENSG00000141367 Genatlas:CLTC HGNC:2092 OMIM:118955 Reactome:Q00610 SwissProt:Q00610 CLTC clathrin heavy chain 1p34.3 PPP1R140 PSF Polypyrimidine tract binding protein associated polypyrimidine tract binding protein associated protein phosphatase 1, regulatory subunit 140 ClinVar:SFPQ Ensembl:ENSG00000116560 Genatlas:SFPQ HGNC:10774 OMIM:605199 Reactome:P23246 SwissProt:P23246 SFPQ splicing factor proline and glutamine rich Xq13.1 NMT55 NRB54 Nuclear RNA-binding protein, 54-kD P54 P54NRB PPP1R114 non-Pou domain-containing octamer (ATGCAAAT) binding protein protein phosphatase 1, regulatory subunit 114 ClinVar:NONO Ensembl:ENSG00000147140 Genatlas:NONO HGNC:7871 OMIM:300084 Reactome:Q15233 SwissProt:Q15233 NONO non-POU domain containing octamer binding Giuffré-Tsukahara syndrome Tsukahara syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Orphanet ICD-10:Q87.5 MeSH:C566376 OMIM:603438 UMLS:C3150890 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3268 Radioulnar synostosis-microcephaly-scoliosis syndrome ORPHA:3268 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566376 E (Exact mapping: the two concepts are equivalent) OMIM:603438 E (Exact mapping: the two concepts are equivalent) UMLS:C3150890 E (Exact mapping: the two concepts are equivalent) 18q11.2 DAPK-interacting protein 1 DIP-1 KIAA1323 MIB ZZANK2 ZZZ6 ClinVar:MIB1 Ensembl:ENSG00000101752 Genatlas:MIB1 HGNC:21086 OMIM:608677 Reactome:Q86YT6 SwissProt:Q86YT6 MIB1 MIB E3 ubiquitin protein ligase 1 10q23 killin ClinVar:KLLN Ensembl:ENSG00000227268 Genatlas:KLLN HGNC:37212 OMIM:612105 SwissProt:B2CW77 KLLN killin, p53 regulated DNA replication inhibitor Isolated congenital radioulnar fusion Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. Orphanet ICD-10:Q74.0 ICD-11:LB90.3 OMIM:179300 UMLS:C5679809 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 350.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3269 Isolated radio-ulnar synostosis ORPHA:3269 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:179300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679809 E (Exact mapping: the two concepts are equivalent) Congenital proconvertin deficiency Hypoproconvertinemia A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity. Orphanet ICD-10:D68.2 ICD-11:3B14.Z MeSH:D005168 MedDRA:10016079 OMIM:227500 UMLS:C0015503 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=327 Congenital factor VII deficiency ORPHA:327 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005168 E (Exact mapping: the two concepts are equivalent) MedDRA:10016079 E (Exact mapping: the two concepts are equivalent) OMIM:227500 E (Exact mapping: the two concepts are equivalent) UMLS:C0015503 E (Exact mapping: the two concepts are equivalent) Der Kaloustian-McIntosh-Silver syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). Orphanet ICD-10:Q87.8 MeSH:C538217 OMIM:266255 UMLS:C2931776 Unknown Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3270 Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538217 E (Exact mapping: the two concepts are equivalent) OMIM:266255 E (Exact mapping: the two concepts are equivalent) UMLS:C2931776 E (Exact mapping: the two concepts are equivalent) Buntinx-Lormans-Martin syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome MeSH:C536270 UMLS:C2931149 Radio-ulnar synostosis-retinal pigment abnormalities syndrome ORPHA:3271 MeSH:C536270 E (Exact mapping: the two concepts are equivalent) UMLS:C2931149 E (Exact mapping: the two concepts are equivalent) 6q24.3 GPRC1A MGLUR1 PPP1R85 mGlu1 protein phosphatase 1, regulatory subunit 85 ClinVar:GRM1 Ensembl:ENSG00000152822 Genatlas:GRM1 HGNC:4593 IUPHAR:289 OMIM:604473 Reactome:Q13255 SwissProt:Q13255 GRM1 glutamate metabotropic receptor 1 17p13.3 CAMRQ2 FLJ33817 PPP1R166 SORF-2 protein phosphatase 1, regulatory subunit 166 ClinVar:WDR81 Ensembl:ENSG00000167716 Genatlas:WDR81 HGNC:26600 OMIM:614218 SwissProt:Q562E7 WDR81 WD repeat domain 81 8q12.1 CARP ClinVar:CA8 Ensembl:ENSG00000178538 Genatlas:CA8 HGNC:1382 OMIM:114815 Reactome:P35219 SwissProt:P35219 CA8 carbonic anhydrase 8 13q12.13 ATPIB ML-1 ClinVar:ATP8A2 Ensembl:ENSG00000132932 Genatlas:ATP8A2 HGNC:13533 IUPHAR:855 OMIM:605870 Reactome:Q9NTI2 SwissProt:Q9NTI2 ATP8A2 ATPase phospholipid transporting 8A2 4q21.21 KMT8D ClinVar:PRDM8 Ensembl:ENSG00000152784 Genatlas:PRDM8 HGNC:13993 OMIM:616639 SwissProt:Q9NQV8 PRDM8 PR/SET domain 8 Synovialosarcoma A rare soft tissue sarcoma characterized by palpable, slow-growing, deep-seated swellings, with or without pain or tenderness, affecting mostly children and young adults. Patients may have pain or joint contractures that precede swelling. Contrary to its name, lesions do not originate from intra-articular synovium, but from primitive mesenchymal cells. Majority of the lesions arise in the extremities, predominantly in the lower extremity, however can also occur in the head and neck region, trunk, lungs and pleura. Metastasis to the lungs, bone and regional lymph nodes can be observed. Increasing size, age and tumor grade are reported as negative predictive factors for both local disease recurrence and metastasis. Orphanet ICD-10:C49.9 MeSH:D013584 MedDRA:10042863 OMIM:300813 UMLS:C0039101 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3273 Synovial sarcoma ORPHA:3273 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D013584 E (Exact mapping: the two concepts are equivalent) MedDRA:10042863 E (Exact mapping: the two concepts are equivalent) OMIM:300813 E (Exact mapping: the two concepts are equivalent) UMLS:C0039101 E (Exact mapping: the two concepts are equivalent) 4p14 RhoH TTF ClinVar:RHOH Ensembl:ENSG00000168421 Genatlas:RHOH HGNC:686 OMIM:602037 Reactome:Q15669 SwissProt:Q15669 RHOH ras homolog family member H 3p21.1 CACH3 CACN4 Cav1.3 ClinVar:CACNA1D Ensembl:ENSG00000157388 Genatlas:CACNA1D HGNC:1391 IUPHAR:530 OMIM:114206 Reactome:Q01668 SwissProt:Q01668 CACNA1D calcium voltage-gated channel subunit alpha1 D Xq28 CLCNL2 XAP121 ClinVar:CLIC2 Ensembl:ENSG00000155962 Genatlas:CLIC2 HGNC:2063 OMIM:300138 Reactome:O15247 SwissProt:O15247 CLIC2 chloride intracellular channel 2 Xq23 CDG1S FLJ23018 MDS031 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TDRD13 YGL047W tudor domain containing 13 ClinVar:ALG13 Ensembl:ENSG00000101901 Genatlas:ALG13 HGNC:30881 OMIM:300776 Reactome:Q9NP73 SwissProt:Q9NP73 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit 5q23.3 PKCI-1 ClinVar:HINT1 Ensembl:ENSG00000169567 Genatlas:HINT1 HGNC:4912 OMIM:601314 SwissProt:P49773 HINT1 histidine triad nucleotide binding protein 1 6q25.1 FLJ20627 RMD1 bA351K16.3 ClinVar:RMND1 Ensembl:ENSG00000155906 Genatlas:RMND1 HGNC:21176 OMIM:614917 SwissProt:Q9NWS8 RMND1 required for meiotic nuclear division 1 homolog 16q24.3 CHMP1 KIAA0047 VPS46 homolog A (S. cerevisiae) Vps46A ClinVar:CHMP1A Ensembl:ENSG00000131165 Genatlas:CHMP1A HGNC:8740 OMIM:164010 Reactome:Q9HD42 SwissProt:Q9HD42 CHMP1A charged multivesicular body protein 1A Autoinflammatory granulomatosis of childhood Granulomatous inflammatory arthritis, dermatitis, and uveitis Granulomatous synovitis-uveitis syndrome PGA Pediatric granulomatous arthritis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Blau syndrome Granulomatous arthritis of childhood ORPHA:3274 3q21.1 AC5 ClinVar:ADCY5 Ensembl:ENSG00000173175 Genatlas:ADCY5 HGNC:236 IUPHAR:1282 OMIM:600293 Reactome:O95622 SwissProt:O95622 ADCY5 adenylate cyclase 5 Synspondylism A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet. Orphanet ICD-10:Q76.4 ICD-11:LD24.5Y MeSH:C535780 OMIM:272460 UMLS:C1848934 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3275 Spondylocarpotarsal synostosis ORPHA:3275 ICD-10:Q76.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535780 E (Exact mapping: the two concepts are equivalent) OMIM:272460 E (Exact mapping: the two concepts are equivalent) UMLS:C1848934 E (Exact mapping: the two concepts are equivalent) UMLS:C5681192 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3276 Disorder of plasmalogens biosynthesis Category ORPHA:3276 UMLS:C5681192 E (Exact mapping: the two concepts are equivalent) 2p13.3 Nucleolysin TIA-1 isoform p40 T-cell-restricted intracellular antigen-1 TIA-1 nucleolysin TIA-1 isoform p40 ClinVar:TIA1 Ensembl:ENSG00000116001 Genatlas:TIA1 HGNC:11802 OMIM:603518 Reactome:P31483 SwissProt:P31483 TIA1 TIA1 cytotoxic granule associated RNA binding protein Congenital Stuart factor deficiency Stuart-Prower factor deficiency A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. Orphanet ICD-10:D68.2 ICD-11:3B14.1 MeSH:D005171 MedDRA:10052474 OMIM:227600 UMLS:C0015519 Autosomal recessive All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=328 Congenital factor X deficiency ORPHA:328 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005171 E (Exact mapping: the two concepts are equivalent) MedDRA:10052474 E (Exact mapping: the two concepts are equivalent) OMIM:227600 E (Exact mapping: the two concepts are equivalent) UMLS:C0015519 E (Exact mapping: the two concepts are equivalent) A rare medullar disease characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord as a result of an obstruction to CSF flow, either at the craniovertebral junction (Chiari malformation) or in the perimedullary subarachnoid spaces (arachnoiditis). Orphanet ICD-11:8D66 MeSH:D013595 MedDRA:10042928 OMIM:186700 UMLS:C0039144 Not applicable All ages Europe AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.94 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3280 Syringomyelia Clinical group ORPHA:3280 ICD-11:8D66 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013595 E (Exact mapping: the two concepts are equivalent) MedDRA:10042928 E (Exact mapping: the two concepts are equivalent) OMIM:186700 E (Exact mapping: the two concepts are equivalent) UMLS:C0039144 E (Exact mapping: the two concepts are equivalent) Chaotic atrial tachycardia MAT Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. Orphanet ICD-10:I47.1 ICD-11:BC81.Y UMLS:C0221158 Not applicable Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3282 Multifocal atrial tachycardia ORPHA:3282 ICD-10:I47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0221158 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Rare bone disease with limb hypoplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndrome with limb reduction defects OBSOLETE: Rare bone disease with limb reduction defect ORPHA:328269 JET Junctional ectopic tachycardia His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality. Orphanet ICD-10:I47.1 ICD-11:BC81.1 MeSH:D013613 MedDRA:10074640 UMLS:C0039235 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3283 His bundle tachycardia ORPHA:3283 ICD-10:I47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:BC81.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013613 E (Exact mapping: the two concepts are equivalent) MedDRA:10074640 E (Exact mapping: the two concepts are equivalent) UMLS:C0039235 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inborn errors of metabolism OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome ORPHA:3284 Bidirectional ventricular tachycardia induced by catecholamine CPVT Malignant paroxysmal ventricular tachycardia Polymorphic ventricular tachycardia induced by catecholamines A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals. Orphanet ICD-10:I47.2 ICD-11:BC65.5 MeSH:C536334 OMIM:604772 OMIM:611938 OMIM:614021 OMIM:614916 OMIM:615441 UMLS:C5574922 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3286 Catecholaminergic polymorphic ventricular tachycardia ORPHA:3286 ICD-10:I47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536334 E (Exact mapping: the two concepts are equivalent) OMIM:604772 E (Exact mapping: the two concepts are equivalent) OMIM:611938 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614021 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614916 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615441 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5574922 E (Exact mapping: the two concepts are equivalent) 9p13.3 AD035 Bile acid beta-glucosidase DKFZp762K054 KIAA1605 Non-lysosomal glucosylceramidase bile acid beta-glucosidase glucocerebrosidase 2 non-lysosomal glucosylceramidase ClinVar:GBA2 Ensembl:ENSG00000070610 Genatlas:GBA2 HGNC:18986 OMIM:609471 Reactome:Q9HCG7 SwissProt:Q9HCG7 GBA2 glucosylceramidase beta 2 1p13.2 KIAA0806 ClinVar:LRIG2 Ensembl:ENSG00000198799 Genatlas:LRIG2 HGNC:20889 OMIM:608869 SwissProt:O94898 LRIG2 leucine rich repeats and immunoglobulin like domains 2 15q26.3 RALDH3 Retinaldehyde dehydrogenase 3 retinaldehyde dehydrogenase 3 ClinVar:ALDH1A3 Ensembl:ENSG00000184254 Genatlas:ALDH1A3 HGNC:409 OMIM:600463 Reactome:P47895 SwissProt:P47895 ALDH1A3 aldehyde dehydrogenase 1 family member A3 14q32.12 NCKX4 Na/Ca-K exchanger 4 ClinVar:SLC24A4 Ensembl:ENSG00000140090 Genatlas:SLC24A4 HGNC:10978 IUPHAR:1048 OMIM:609840 Reactome:Q8NFF2 SwissProt:Q8NFF2 SLC24A4 solute carrier family 24 member 4 A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. Orphanet ICD-10:M31.4 ICD-11:4A44.1 MeSH:D013625 MedDRA:10043097 OMIM:207600 UMLS:C0039263 Not applicable Adolescent Adult Denmark AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.34 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 2.82 AND has_point_prevalence_range : 1-9 / 100 000 Kuwait AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Kuwait AND has_point_prevalence_average_value : 0.78 AND has_point_prevalence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 2.56 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.47 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3287 Takayasu arteritis ORPHA:3287 ICD-10:M31.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A44.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013625 E (Exact mapping: the two concepts are equivalent) MedDRA:10043097 E (Exact mapping: the two concepts are equivalent) OMIM:207600 E (Exact mapping: the two concepts are equivalent) UMLS:C0039263 E (Exact mapping: the two concepts are equivalent) 19q13.12 FLJ36445 Nesp4 Nesprin-4 ClinVar:C19orf46 Ensembl:ENSG00000181392 Genatlas:C19orf46 HGNC:26703 OMIM:615535 Reactome:Q8N205 SwissProt:Q8N205 SYNE4 spectrin repeat containing nuclear envelope family member 4 16p12.2 QCR2 UQCR2 ClinVar:UQCRC2 Ensembl:ENSG00000140740 Genatlas:UQCRC2 HGNC:12586 OMIM:191329 Reactome:P22695 SwissProt:P22695 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 10q21.3 MYOP Sarcomeric protein myopalladin, 145 kDa sarcomeric protein myopalladin, 145 kDa ClinVar:MYPN Ensembl:ENSG00000138347 Genatlas:MYPN HGNC:23246 OMIM:608517 SwissProt:Q86TC9 MYPN myopalladin This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Taurodontism ORPHA:3289 5q11.2 GPIa HPA-5 VLAA2 alpha 2 integrin alpha 2 subunit of VLA-2 receptor glycoprotein Ia human platelet alloantigen 5 very late activation receptor subunit alpha-2 ClinVar:ITGA2 Ensembl:ENSG00000164171 Genatlas:ITGA2 HGNC:6137 IUPHAR:2440 OMIM:192974 Reactome:P17301 SwissProt:P17301 ITGA2 integrin subunit alpha 2 6q13 CPAMD7 DKFZp762L1111 FLJ38569 ClinVar:CD109 Ensembl:ENSG00000156535 Genatlas:CD109 HGNC:21685 OMIM:608859 Reactome:Q6YHK3 SwissProt:Q6YHK3 CD109 CD109 molecule 3p22.2 NaN Nav1.9 SNS-2 ClinVar:SCN11A Ensembl:ENSG00000168356 Genatlas:SCN11A HGNC:10583 IUPHAR:586 OMIM:604385 Reactome:Q9UI33 SwissProt:Q9UI33 SCN11A sodium voltage-gated channel alpha subunit 11 mitochondria trnT ClinVar:MT-TT Ensembl:ENSG00000210195 Genatlas:MT-TT HGNC:7499 OMIM:590090 MT-TT mitochondrially encoded tRNA-Thr (ACN) Hemophilia C PTA deficiency Plasma thromboplastin antecedent deficiency Rosenthal factor deficiency Rosenthal syndrome A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Orphanet ICD-10:D68.1 ICD-11:3B13 MeSH:D005173 MedDRA:10016082 OMIM:612416 UMLS:C0015523 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329 Congenital factor XI deficiency ORPHA:329 ICD-10:D68.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3B13 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005173 E (Exact mapping: the two concepts are equivalent) MedDRA:10016082 E (Exact mapping: the two concepts are equivalent) OMIM:612416 E (Exact mapping: the two concepts are equivalent) UMLS:C0015523 E (Exact mapping: the two concepts are equivalent) Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. Orphanet ICD-10:Q82.4 MeSH:C536950 OMIM:272950 UMLS:C1848912 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3291 Teebi-Shaltout syndrome ORPHA:3291 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536950 E (Exact mapping: the two concepts are equivalent) OMIM:272950 E (Exact mapping: the two concepts are equivalent) UMLS:C1848912 E (Exact mapping: the two concepts are equivalent) A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. Orphanet ICD-10:D89.8 OMIM:615895 UMLS:C5394674 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis ORPHA:329173 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615895 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5394674 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Iu CDG-Iu CDG1U CMD with intellectual disability and severe epilepsy Carbohydrate deficient glycoprotein syndrome type Iu Congenital disorder of glycosylation type 1u Congenital disorder of glycosylation type Iu DPM2-CDG A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. Orphanet ICD-10:E77.8 OMIM:615042 UMLS:C5190603 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615042 E (Exact mapping: the two concepts are equivalent) UMLS:C5190603 E (Exact mapping: the two concepts are equivalent) Tall stature-scoliosis-macrodactyly of the halluces syndrome Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:615923 UMLS:C4749503 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329191 Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615923 E (Exact mapping: the two concepts are equivalent) UMLS:C4749503 E (Exact mapping: the two concepts are equivalent) Developmental delay with ASD and gait instability Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. Orphanet ICD-10:F84.8 OMIM:615516 UMLS:C4749505 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329195 Developmental delay with autism spectrum disorder and gait instability ORPHA:329195 ICD-10:F84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615516 E (Exact mapping: the two concepts are equivalent) UMLS:C4749505 E (Exact mapping: the two concepts are equivalent) Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Orphanet ICD-10:Q74.0 MeSH:C536953 OMIM:211960 UMLS:C1859356 Unknown Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3292 Tel Hashomer camptodactyly syndrome ORPHA:3292 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536953 E (Exact mapping: the two concepts are equivalent) OMIM:211960 E (Exact mapping: the two concepts are equivalent) UMLS:C1859356 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital muscular dystrophy due to dystroglycanopathy OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome ORPHA:329206 ADNIV A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Orphanet ICD-10:H35.2 OMIM:193235 UMLS:C4721549 Autosomal dominant All ages Worldwide AND has_cases/families_value : 99.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329211 Autosomal dominant neovascular inflammatory vitreoretinopathy ORPHA:329211 ICD-10:H35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:193235 E (Exact mapping: the two concepts are equivalent) UMLS:C4721549 E (Exact mapping: the two concepts are equivalent) CSVT A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others. Orphanet ICD-10:I67.6 ICD-11:8B22 UMLS:C0338573 All ages Europe AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329217 Cerebral sinovenous thrombosis ORPHA:329217 ICD-10:I67.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0338573 E (Exact mapping: the two concepts are equivalent) PACS1-NDD PACS1-neurodevelopmental disorder PACS1-related syndrome A rare genetic syndromic intellectual disability characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected). Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. Orphanet ICD-10:Q87.0 OMIM:615009 UMLS:C4751005 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329224 Schuurs-Hoeijmakers syndrome ORPHA:329224 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615009 E (Exact mapping: the two concepts are equivalent) UMLS:C4751005 E (Exact mapping: the two concepts are equivalent) Microcephalic primordial dwarfism, Walsh type Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. Orphanet ICD-10:Q87.1 OMIM:615095 UMLS:C4510378 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329228 Microcephalic primordial dwarfism due to ZNF335 deficiency ORPHA:329228 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615095 E (Exact mapping: the two concepts are equivalent) UMLS:C4510378 E (Exact mapping: the two concepts are equivalent) IGSF1 deficiency syndrome X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Orphanet ICD-10:E03.1 OMIM:300888 UMLS:C4749943 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement ORPHA:329235 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300888 E (Exact mapping: the two concepts are equivalent) UMLS:C4749943 E (Exact mapping: the two concepts are equivalent) Congenital chronic diarrhea with exudative enteropathy Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. Orphanet ICD-10:K52.8 OMIM:615863 OMIM:618183 UMLS:C4751003 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329242 Congenital chronic diarrhea with protein-losing enteropathy ORPHA:329242 ICD-10:K52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615863 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618183 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751003 E (Exact mapping: the two concepts are equivalent) A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior. Orphanet ICD-10:E66.8 ICD-11:5B81.Y UMLS:C5190989 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Etiological subtype ORPHA:329249 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190989 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with predominant vertebral and costal involvement OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome ORPHA:329252 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculocerebrofacial syndrome, Kaufman type Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency ORPHA:329255 CMT2Q A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. Orphanet ICD-10:G60.0 OMIM:615025 UMLS:C3554366 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q ORPHA:329258 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615025 E (Exact mapping: the two concepts are equivalent) UMLS:C3554366 E (Exact mapping: the two concepts are equivalent) BPAN NBIA5 Neurodegeneration with brain iron accumulation type 5 SENDA Static encephalopathy of childhood with neurodegeneration in adulthood Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. Orphanet ICD-10:G23.0 OMIM:300894 UMLS:C3550973 Childhood Worldwide AND has_cases/families_value : 68.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329284 Beta-propeller protein-associated neurodegeneration ORPHA:329284 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300894 E (Exact mapping: the two concepts are equivalent) UMLS:C3550973 E (Exact mapping: the two concepts are equivalent) Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Orphanet ICD-10:Q87.8 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). PLAN https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329303 PLA2G6-associated neurodegeneration Clinical group ORPHA:329303 FAHN Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. Orphanet ICD-10:G23.0 MeSH:C580102 OMIM:612319 UMLS:C3668943 Adolescent Childhood Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329308 Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C580102 E (Exact mapping: the two concepts are equivalent) OMIM:612319 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3668943 E (Exact mapping: the two concepts are equivalent) Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. Orphanet ICD-10:G71.3 OMIM:617070 UMLS:C4518838 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency ORPHA:329314 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617070 E (Exact mapping: the two concepts are equivalent) UMLS:C4518838 E (Exact mapping: the two concepts are equivalent) Familial thrombocytosis with transverse limb defect Hereditary thrombocytosis with transverse limb defect Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. Orphanet ICD-10:Q87.2 UMLS:C4749944 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329319 Thrombocythemia with distal limb defects ORPHA:329319 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749944 E (Exact mapping: the two concepts are equivalent) Cutaneous hemangioma with muscle or bone atrophy A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. Orphanet ICD-10:Q87.2 UMLS:C5679859 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329324 Inverse Klippel-Trénaunay syndrome ORPHA:329324 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679859 E (Exact mapping: the two concepts are equivalent) A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism. Orphanet ICD-10:Q04.3 MeSH:C538092 UMLS:C1853215 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329329 Autosomal recessive frontotemporal pachygyria ORPHA:329329 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538092 E (Exact mapping: the two concepts are equivalent) UMLS:C1853215 E (Exact mapping: the two concepts are equivalent) Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. Orphanet ICD-10:Q87.8 OMIM:614407 UMLS:C3280692 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614407 E (Exact mapping: the two concepts are equivalent) UMLS:C3280692 E (Exact mapping: the two concepts are equivalent) Adult-onset CPEO with mitochondrial myopathy A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. Orphanet ICD-10:G71.3 OMIM:616479 UMLS:C4511138 Autosomal dominant Mitochondrial inheritance Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616479 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4511138 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Limbic encephalitis with DPPX antibodies OBSOLETE: Limbic encephalitis with dipeptidyl-peptidase 6 antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with DPP6 antibodies ORPHA:329341 Hapnes-Boman-Skeie syndrome Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. Orphanet ICD-10:Q74.0 MeSH:C536960 OMIM:187390 UMLS:C2931376 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3294 Extensor tendons of finger anomalies ORPHA:3294 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536960 E (Exact mapping: the two concepts are equivalent) OMIM:187390 E (Exact mapping: the two concepts are equivalent) UMLS:C2931376 E (Exact mapping: the two concepts are equivalent) DA5D Distal arthrogryposis type 5 without ophthalmoparesis Distal arthrogryposis type 5 without ophthalmoplegia Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. Orphanet ICD-10:Q68.8 OMIM:615065 UMLS:C3554415 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329457 Distal arthrogryposis type 5D ORPHA:329457 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615065 E (Exact mapping: the two concepts are equivalent) UMLS:C3554415 E (Exact mapping: the two concepts are equivalent) DYT25 Dystonia 25 A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia. Orphanet ICD-10:G24.1 OMIM:615073 UMLS:C4304670 Autosomal dominant Adult Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329466 Autosomal dominant focal dystonia, DYT25 type ORPHA:329466 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615073 E (Exact mapping: the two concepts are equivalent) UMLS:C4304670 E (Exact mapping: the two concepts are equivalent) Acute megakaryoblastic leukemia in children without trisomy 21 Non-DS-AMKL ICD-10:C94.2 ICD-11:2A60.36 UMLS:C5679860 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329469 Acute megakaryoblastic leukemia in children without Down syndrome Clinical subtype ORPHA:329469 ICD-10:C94.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.36 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679860 E (Exact mapping: the two concepts are equivalent) Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Orphanet ICD-10:G11.4 UMLS:C4511969 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329475 Spastic paraplegia-Paget disease of bone syndrome ORPHA:329475 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4511969 E (Exact mapping: the two concepts are equivalent) A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. Orphanet ICD-10:G71.0 UMLS:C4749506 Autosomal dominant Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329478 Adult-onset distal myopathy due to VCP mutation ORPHA:329478 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749506 E (Exact mapping: the two concepts are equivalent) LPG A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed. Orphanet ICD-10:N07.8 ICD-11:MF82 MeSH:C567089 OMIM:611771 UMLS:C2673196 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329481 Lipoprotein glomerulopathy ORPHA:329481 ICD-10:N07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF82 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C567089 E (Exact mapping: the two concepts are equivalent) OMIM:611771 E (Exact mapping: the two concepts are equivalent) UMLS:C2673196 E (Exact mapping: the two concepts are equivalent) Familial Hibernian fever TNF receptor 1-associated periodic syndrome TRAPS syndrome Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term). Orphanet ICD-10:E85.0 ICD-11:4A60.2 OMIM:142680 UMLS:C1275126 Autosomal dominant Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=32960 Tumor necrosis factor receptor 1 associated periodic syndrome ORPHA:32960 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:142680 E (Exact mapping: the two concepts are equivalent) UMLS:C1275126 E (Exact mapping: the two concepts are equivalent) Dup(5)(p13) Trisomy 5p13 A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Orphanet ICD-10:Q92.3 OMIM:613174 UMLS:C4749507 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329802 5p13 microduplication syndrome ORPHA:329802 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613174 E (Exact mapping: the two concepts are equivalent) UMLS:C4749507 E (Exact mapping: the two concepts are equivalent) Androgenetic/biparental mosaicism Genome-wide paternal uniparental disomy mosaicism Mosaic genome-wide paternal UPD A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected. Orphanet ICD-10:Q95.8 UMLS:C5190828 Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329813 Mosaic genome-wide paternal uniparental disomy syndrome ORPHA:329813 ICD-10:Q95.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190828 E (Exact mapping: the two concepts are equivalent) IGCM A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders. Orphanet ICD-10:I40.1 UMLS:C5679856 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329874 Idiopathic giant cell myocarditis ORPHA:329874 ICD-10:I40.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679856 E (Exact mapping: the two concepts are equivalent) Hypertrophic gastropathy without hypoproteinemia A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. Orphanet ICD-10:K29.6 UMLS:C4750834 Autosomal dominant No data available Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329883 Non-hypoproteinemic hypertrophic gastropathy ORPHA:329883 ICD-10:K29.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750834 E (Exact mapping: the two concepts are equivalent) JIIM UMLS:C5679857 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329888 Juvenile idiopathic inflammatory myopathy Category ORPHA:329888 UMLS:C5679857 E (Exact mapping: the two concepts are equivalent) A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. Orphanet ICD-10:M33.0 UMLS:C4707728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329894 Juvenile overlap myositis ORPHA:329894 ICD-10:M33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707728 E (Exact mapping: the two concepts are equivalent) A toxin-mediated infection due to the anaerobic bacteria <i>Clostridium tetani</i> and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal. Orphanet ICD-10:A33 ICD-10:A34 ICD-10:A35 ICD-11:1C13 ICD-11:1C14 ICD-11:1C15 MeSH:D013742 MedDRA:10043376 UMLS:C0039614 All ages Bulgaria AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3299 Tetanus ORPHA:3299 ICD-10:A33 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A34 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A35 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C13 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C14 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C15 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013742 E (Exact mapping: the two concepts are equivalent) MedDRA:10043376 E (Exact mapping: the two concepts are equivalent) UMLS:C0039614 E (Exact mapping: the two concepts are equivalent) Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN A primary form of membranoproliferative glomerulonephritis (MPGN) characterized by deposition in the renal glomeruli of immunoglobulin with complement fractions, especially C3. Clinical presentation may range from nephrotic syndrome and acute kidney injury to asymptomatic proteinuria and hematuria. Orphanet ICD-10:N03.5 OMIM:615008 UMLS:C5679858 Multigenic/multifactorial Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis Clinical subtype ORPHA:329903 ICD-10:N03.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615008 E (Exact mapping: the two concepts are equivalent) UMLS:C5679858 E (Exact mapping: the two concepts are equivalent) Non-Ig-mediated MPGN Non-Ig-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated MPGN Non-immunoglobulin-mediated membranoproliferative glomerulonephritis A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD). Orphanet ICD-10:N03.5 ICD-11:MF8Y MedDRA:10077827 OMIM:609814 OMIM:614809 UMLS:C4087273 Multigenic/multifactorial All ages Europe AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329918 C3 glomerulopathy Clinical subtype ORPHA:329918 ICD-10:N03.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10077827 E (Exact mapping: the two concepts are equivalent) OMIM:609814 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614809 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4087273 E (Exact mapping: the two concepts are equivalent) A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease. Orphanet ICD-10:N03.5 ICD-11:MF8Y OMIM:614809 UMLS:C4055342 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329931 C3 glomerulonephritis Histopathological subtype ORPHA:329931 ICD-10:N03.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614809 E (Exact mapping: the two concepts are equivalent) UMLS:C4055342 E (Exact mapping: the two concepts are equivalent) Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. Orphanet ICD-10:E71.3 ICD-11:5C52.01 UMLS:C4509950 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency ORPHA:329942 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509950 E (Exact mapping: the two concepts are equivalent) A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs. Orphanet ICD-10:M12.4 ICD-11:FA27.4 UMLS:C0149910 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329967 Intermittent hydrarthrosis ORPHA:329967 ICD-10:M12.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FA27.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0149910 E (Exact mapping: the two concepts are equivalent) ICD-10:D12.6 ICD-11:2B90.Y OMIM:174900 OMIM:175050 UMLS:C5680947 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329971 Generalized juvenile polyposis/juvenile polyposis coli Clinical subtype ORPHA:329971 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:174900 E (Exact mapping: the two concepts are equivalent) OMIM:175050 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680947 E (Exact mapping: the two concepts are equivalent) Classic appendiceal neuroendocrine tumor Classic appendix neuroendocrine tumor A rare endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. It is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated. Orphanet ICD-10:D37.3 UMLS:C5679854 Not applicable All ages Worldwide AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329977 Classic neuroendocrine tumor of appendix Clinical subtype ORPHA:329977 ICD-10:D37.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679854 E (Exact mapping: the two concepts are equivalent) GCC Goblet cell adenocarcinoid Goblet cell carcinoid Goblet cell tumor Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis. Orphanet ICD-10:C18.1 UMLS:C0205695 Not applicable Adult Worldwide AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=329984 Goblet cell carcinoma Clinical subtype ORPHA:329984 ICD-10:C18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0205695 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-Hodgkin lymphoma OBSOLETE: Lymphomatous meningitis ORPHA:329998 Isovaleric acid CoA dehydrogenase deficiency A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C538167 OMIM:243500 UMLS:C0268575 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 1.55 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33 Isovaleric acidemia ORPHA:33 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538167 E (Exact mapping: the two concepts are equivalent) OMIM:243500 E (Exact mapping: the two concepts are equivalent) UMLS:C0268575 E (Exact mapping: the two concepts are equivalent) Congenital Hageman factor deficiency A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. Orphanet ICD-10:D68.2 ICD-11:3B15 MeSH:D005175 MedDRA:10051806 OMIM:234000 UMLS:C0015526 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330 Congenital factor XII deficiency ORPHA:330 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B15 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005175 E (Exact mapping: the two concepts are equivalent) MedDRA:10051806 E (Exact mapping: the two concepts are equivalent) OMIM:234000 E (Exact mapping: the two concepts are equivalent) UMLS:C0015526 E (Exact mapping: the two concepts are equivalent) ATTRwt amyloidosis ATTRwt-related amyloidosis Senile systemic amyloidosis Wild type ATTR-related amyloidosis A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons). Orphanet ICD-10:E85.8 ICD-11:BC43.20 UMLS:C0342623 Not applicable Adult Elderly Worldwide AND has_point_prevalence_average_value : 1.72 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330001 Wild type ATTR amyloidosis ORPHA:330001 ICD-10:E85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0342623 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Macular telangiectasia type 2 ORPHA:330006 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Poliomyelitis OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk ORPHA:330009 A rare autosomal dominant syndromic lymphedema characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. Orphanet ICD-10:Q82.0 ICD-11:BD93.0 MeSH:C537710 OMIM:153400 UMLS:C0265345 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33001 Lymphedema-distichiasis syndrome ORPHA:33001 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537710 E (Exact mapping: the two concepts are equivalent) OMIM:153400 E (Exact mapping: the two concepts are equivalent) UMLS:C0265345 E (Exact mapping: the two concepts are equivalent) HAPE A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe. Orphanet ICD-10:J81 MeSH:C535833 UMLS:C0340100 All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330012 High altitude pulmonary edema ORPHA:330012 ICD-10:J81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535833 E (Exact mapping: the two concepts are equivalent) UMLS:C0340100 E (Exact mapping: the two concepts are equivalent) Lead intoxication Plumbism Saturnism Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. Orphanet ICD-10:T56.0 ICD-11:NE61 MeSH:D007855 UMLS:C0023176 Not applicable All ages Europe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 0.68 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330015 Lead poisoning ORPHA:330015 ICD-10:T56.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007855 E (Exact mapping: the two concepts are equivalent) UMLS:C0023176 E (Exact mapping: the two concepts are equivalent) Hydrargyria Mercurialism Mercury intoxication Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. Orphanet ICD-10:T56.1 ICD-11:NE61 MeSH:D008630 UMLS:C0025427 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330021 Mercury poisoning ORPHA:330021 ICD-10:T56.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008630 E (Exact mapping: the two concepts are equivalent) UMLS:C0025427 E (Exact mapping: the two concepts are equivalent) Hypotrichosis-hearing loss syndrome A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. Orphanet ICD-10:H90.5 UMLS:C5190988 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330029 Hypotrichosis-deafness syndrome ORPHA:330029 ICD-10:H90.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190988 E (Exact mapping: the two concepts are equivalent) HbLepore-beta-thalassemia syndrome Lepore-beta-thalassemia syndrome A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions. Orphanet ICD-10:D56.8 UMLS:C5679855 Autosomal recessive No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330032 Hemoglobin Lepore-beta-thalassemia syndrome ORPHA:330032 ICD-10:D56.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679855 E (Exact mapping: the two concepts are equivalent) M hemoglobinopathy A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant. Orphanet ICD-10:D74.0 ICD-11:3A92 MeSH:C581942 OMIM:617971 OMIM:617973 UMLS:C3665425 Autosomal dominant No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330041 Hemoglobin M disease ORPHA:330041 ICD-10:D74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A92 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C581942 E (Exact mapping: the two concepts are equivalent) OMIM:617971 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617973 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3665425 E (Exact mapping: the two concepts are equivalent) ICD-10:E88.8 ICD-11:5C5Y ICD-11:LD2E OMIM:614388 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype ORPHA:330050 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614388 E (Exact mapping: the two concepts are equivalent) Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Orphanet ICD-10:G71.3 OMIM:613076 UMLS:C4750835 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613076 E (Exact mapping: the two concepts are equivalent) UMLS:C4750835 E (Exact mapping: the two concepts are equivalent) A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood. Orphanet ICD-10:L56.4 ICD-11:EJ30.Y MeSH:D006837 MedDRA:10083442 UMLS:C0020241 Not applicable Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.34 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330058 Hydroa vacciniforme ORPHA:330058 ICD-10:L56.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EJ30.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006837 E (Exact mapping: the two concepts are equivalent) MedDRA:10083442 E (Exact mapping: the two concepts are equivalent) UMLS:C0020241 E (Exact mapping: the two concepts are equivalent) Familial polymorphous light eruption of American Indians Hereditary polymorphous light eruption of American Indians Hutchinson summer prurigo Hydroa aestivale A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic. Orphanet ICD-10:L56.4 ICD-11:EJ30.Y MeSH:C566780 MedDRA:10000616 OMIM:174770 UMLS:C0406217 Multigenic/multifactorial Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330061 Actinic prurigo ORPHA:330061 ICD-10:L56.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EJ30.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566780 E (Exact mapping: the two concepts are equivalent) MedDRA:10000616 E (Exact mapping: the two concepts are equivalent) OMIM:174770 E (Exact mapping: the two concepts are equivalent) UMLS:C0406217 E (Exact mapping: the two concepts are equivalent) Actinic reticuloid Chronic photosensitivity dermatitis Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur <i>de novo</i>. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting. Orphanet ICD-10:L57.1 ICD-11:EJ30.1 UMLS:C0282309 Not applicable Adult Europe AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330064 Chronic actinic dermatitis ORPHA:330064 ICD-10:L57.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EJ30.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0282309 E (Exact mapping: the two concepts are equivalent) PAPPA syndrome PAPPAS Zimmer phocomelia An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536500 OMIM:273395 OMIM:601360 OMIM:618021 UMLS:C2931218 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3301 Tetraamelia-multiple malformations syndrome ORPHA:3301 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536500 E (Exact mapping: the two concepts are equivalent) OMIM:273395 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601360 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618021 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931218 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Genetic MCA/variable MR OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ORPHA:330197 Genetic MCA Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism) UMLS:C5679853 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Category ORPHA:330206 UMLS:C5679853 E (Exact mapping: the two concepts are equivalent) Xq26.1 IGCD1 IGDC1 INHBP KIAA0364 MGC75490 PGSF2 ClinVar:IGSF1 Ensembl:ENSG00000147255 Genatlas:IGSF1 HGNC:5948 OMIM:300137 SwissProt:Q8N6C5 IGSF1 immunoglobulin superfamily member 1 Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. Orphanet ICD-10:Q21.3 ICD-11:LA88.2 MeSH:D013771 MedDRA:10016193 OMIM:187500 OMIM:618780 UMLS:C0039685 Autosomal dominant Multigenic/multifactorial Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 39.3 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 40.8 AND has_birth_prevalence_range : 1-5 / 10 000 China AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 39.7 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 29.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 13.8 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 34.3 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 14.5 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 26.8 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 48.2 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 29.2 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 31.1 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 23.7 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 63.0 AND has_birth_prevalence_range : 6-9 / 10 000 Ukraine AND has_birth_prevalence_average_value : 25.4 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 32.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 47.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 34.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3303 Tetralogy of Fallot ORPHA:3303 ICD-10:Q21.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA88.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013771 E (Exact mapping: the two concepts are equivalent) MedDRA:10016193 E (Exact mapping: the two concepts are equivalent) OMIM:187500 E (Exact mapping: the two concepts are equivalent) OMIM:618780 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0039685 E (Exact mapping: the two concepts are equivalent) 11p15.1 PIG4 TP53I4 ClinVar:SAA1 Ensembl:ENSG00000173432 Genatlas:SAA1 HGNC:10513 OMIM:104750 Reactome:P0DJI8 SwissProt:P0DJI8 SAA1 serum amyloid A1 Bindewald-Ulmer-Müller syndrome Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Orphanet ICD-10:Q87.8 MeSH:C536608 OMIM:601127 UMLS:C1832735 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3304 Fallot complex-intellectual disability-growth delay syndrome ORPHA:3304 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536608 E (Exact mapping: the two concepts are equivalent) OMIM:601127 E (Exact mapping: the two concepts are equivalent) UMLS:C1832735 E (Exact mapping: the two concepts are equivalent) Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage. Orphanet ICD-10:Q92.7 ICD-11:LD42.1 MeSH:D057891 UMLS:C0333694 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3305 Tetraploidy syndrome ORPHA:3305 ICD-10:Q92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD42.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D057891 E (Exact mapping: the two concepts are equivalent) UMLS:C0333694 E (Exact mapping: the two concepts are equivalent) Duplication/inversion 15q11 Inv dup (15) syndrome Isodicentric chromosome 15 syndrome Non-distal tetrasomy 15q Non-telomeric tetrasomy 15q idic (15) syndrome A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures. Orphanet ICD-10:Q99.8 MeSH:C580205 MedDRA:10081682 UMLS:C3711376 Not applicable Unknown Neonatal Worldwide AND has_birth_prevalence_average_value : 3.33 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3306 Inverted duplicated chromosome 15 syndrome ORPHA:3306 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C580205 E (Exact mapping: the two concepts are equivalent) MedDRA:10081682 E (Exact mapping: the two concepts are equivalent) UMLS:C3711376 E (Exact mapping: the two concepts are equivalent) 1q42.3 MGC39558 ClinVar:B3GALNT2 Ensembl:ENSG00000162885 Genatlas:B3GALNT2 HGNC:28596 OMIM:610194 Reactome:Q8NCR0 SwissProt:Q8NCR0 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 14q24.1 ClinVar:ACTN1 Ensembl:ENSG00000072110 Genatlas:ACTN1 HGNC:163 OMIM:102575 Reactome:P12814 SwissProt:P12814 ACTN1 actinin alpha 1 A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. Orphanet ICD-10:Q78.5 ICD-11:LD24.7 MeSH:C537564 OMIM:156400 UMLS:C0265295 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33067 Metaphyseal chondrodysplasia, Jansen type ORPHA:33067 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537564 E (Exact mapping: the two concepts are equivalent) OMIM:156400 E (Exact mapping: the two concepts are equivalent) UMLS:C0265295 E (Exact mapping: the two concepts are equivalent) 20q13.33 DKFZP434C013 KIAA1088 NHL RTEL bK3184A7.3 ClinVar:RTEL1 Ensembl:ENSG00000258366 Genatlas:RTEL1 HGNC:15888 OMIM:608833 Reactome:Q9NZ71 SwissProt:Q9NZ71 RTEL1 regulator of telomere elongation helicase 1 12q24.33 P2X2 ClinVar:P2RX2 Ensembl:ENSG00000187848 Genatlas:P2RX2 HGNC:15459 IUPHAR:479 OMIM:600844 Reactome:Q9UBL9 SwissProt:Q9UBL9 P2RX2 purinergic receptor P2X 2 SMEI Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment. Orphanet ICD-10:G40.4 ICD-11:8A61.11 MedDRA:10073677 OMIM:607208 OMIM:612164 OMIM:615744 UMLS:C0751122 Autosomal dominant Infancy Neonatal Europe AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33069 Dravet syndrome ORPHA:33069 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10073677 E (Exact mapping: the two concepts are equivalent) OMIM:607208 E (Exact mapping: the two concepts are equivalent) OMIM:612164 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615744 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751122 E (Exact mapping: the two concepts are equivalent) Isochromosome 18p Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. Orphanet ICD-10:Q99.8 ICD-11:LD7Y MeSH:C538306 OMIM:614290 UMLS:C0795868 Not applicable Antenatal Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3307 Tetrasomy 18p syndrome ORPHA:3307 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538306 E (Exact mapping: the two concepts are equivalent) OMIM:614290 E (Exact mapping: the two concepts are equivalent) UMLS:C0795868 E (Exact mapping: the two concepts are equivalent) 15q21.3 HEB HTF4 Helix-loop-helix transcription factor 4 HsT17266 bHLHb20 helix-loop-helix transcription factor 4 p64 ClinVar:TCF12 Ensembl:ENSG00000140262 Genatlas:TCF12 HGNC:11623 OMIM:600480 Reactome:Q99081 SwissProt:Q99081 TCF12 transcription factor 12 2p23.3 CILD21 FLJ32660 MGC16372 ClinVar:DRC1 Ensembl:ENSG00000157856 Genatlas:DRC1 HGNC:24245 OMIM:615288 SwissProt:Q96MC2 DRC1 dynein regulatory complex subunit 1 1q22 ADMCKD ADMCKD1 CD227 Ca15-3 EMA KL-6 MCD MCKD PEM epithelial membrane antigen ClinVar:MUC1 Ensembl:ENSG00000185499 Genatlas:MUC1 HGNC:7508 OMIM:158340 Reactome:P15941 SwissProt:P15941 MUC1 mucin 1, cell surface associated 1p21.3 MGC19780 ClinVar:ALG14 Ensembl:ENSG00000172339 Genatlas:ALG14 HGNC:28287 OMIM:612866 Reactome:Q96F25 SwissProt:Q96F25 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit 2q32.3 DKFZp667M1322 FLJ13624 FLJ22833 MGC111163 SOSS-B2 SSB2 hSSB2 sensor of single-strand DNA complex subunit B2 single-stranded DNA-binding protein 2 ClinVar:NABP1 Ensembl:ENSG00000173559 Genatlas:NABP1 HGNC:26232 OMIM:612103 Reactome:Q96AH0 SwissProt:Q96AH0 NABP1 nucleic acid binding protein 1 9q31.2 D4Ertd89e FLJ10493 TRIC-B bA219P18.1 ClinVar:TMEM38B Ensembl:ENSG00000095209 Genatlas:TMEM38B HGNC:25535 OMIM:611236 SwissProt:Q9NVV0 TMEM38B transmembrane protein 38B 17q22 DAGK6 DGK ClinVar:DGKE Ensembl:ENSG00000153933 Genatlas:DGKE HGNC:2852 OMIM:601440 Reactome:P52429 SwissProt:P52429 DGKE diacylglycerol kinase epsilon 7q34 T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster ClinVar:TRB@ Genatlas:TRB@ HGNC:12155 Reactome:P04435 SwissProt:P0DSE2 TRB T-cell receptor beta locus 14q11.2 ClinVar:TRA@ Genatlas:TRA@ HGNC:12027 SwissProt:P0DSE1 TRA T-cell receptor alpha locus 14q11.2 TCRDV1 ClinVar:TRD@ Genatlas:TRD@ HGNC:12252 TRD T-cell receptor delta locus Isochromosome 5p Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). Orphanet ICD-10:Q99.8 UMLS:C0795813 Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3309 Tetrasomy 5p syndrome ORPHA:3309 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0795813 E (Exact mapping: the two concepts are equivalent) 7p14 T-cell antigen receptor, gamma polypeptide T-cell rearranging gene, gamma T-cell receptor, gamma cluster ClinVar:TRG@ Genatlas:TRG@ HGNC:12271 TRG T-cell receptor gamma locus 14q32.13 TCL1 ClinVar:TCL1A Ensembl:ENSG00000100721 Genatlas:TCL1A HGNC:11648 OMIM:186960 Reactome:P56279 SwissProt:P56279 TCL1A TCL1 family AKT coactivator A 10q24.31 Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch) homeo box 11 (T-cell lymphoma 3-associated breakpoint) ClinVar:TLX1 Ensembl:ENSG00000107807 Genatlas:TLX1 HGNC:5056 OMIM:186770 Reactome:P31314 SwissProt:P31314 TLX1 T cell leukemia homeobox 1 5q35.1 RNX ClinVar:TLX3 Ensembl:ENSG00000164438 Genatlas:TLX3 HGNC:13532 OMIM:604640 Reactome:O43711 SwissProt:O43711 TLX3 T cell leukemia homeobox 3 Fibrin-stabilizing factor deficiency Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. Orphanet ICD-10:D68.2 ICD-11:3B14.Z MeSH:D005177 MedDRA:10016083 OMIM:613225 OMIM:613235 UMLS:C0015530 Autosomal recessive Not applicable All ages Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331 Congenital factor XIII deficiency ORPHA:331 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005177 E (Exact mapping: the two concepts are equivalent) MedDRA:10016083 E (Exact mapping: the two concepts are equivalent) OMIM:613225 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613235 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0015530 E (Exact mapping: the two concepts are equivalent) Isochromosome 9p Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). Orphanet ICD-10:Q99.8 ICD-11:LD7Y MeSH:C538027 UMLS:C0795832 Antenatal Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3310 Tetrasomy 9p syndrome ORPHA:3310 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538027 E (Exact mapping: the two concepts are equivalent) UMLS:C0795832 E (Exact mapping: the two concepts are equivalent) Autosomal recessive lethal multiple pterygium syndrome LMPS A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present. Orphanet ICD-10:Q79.8 ICD-11:LD26.40 OMIM:253290 UMLS:C1854678 Autosomal recessive X-linked recessive Antenatal Worldwide AND has_cases/families_value : 28.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33108 Lethal multiple pterygium syndrome ORPHA:33108 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:253290 E (Exact mapping: the two concepts are equivalent) UMLS:C1854678 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Symmetrical thalamic calcifications OBSOLETE: Infantile symmetrical thalamic degeneration ORPHA:3311 Agammaglobulinemia, non-Bruton type A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. Orphanet ICD-10:D80.0 ICD-11:4A01.00 MeSH:C538056 OMIM:601495 OMIM:612692 OMIM:613500 OMIM:613501 OMIM:613502 OMIM:613506 OMIM:615214 OMIM:616941 OMIM:619693 OMIM:619707 OMIM:619824 UMLS:C1832241 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33110 Autosomal agammaglobulinemia Clinical subtype ORPHA:33110 ICD-10:D80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A01.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538056 E (Exact mapping: the two concepts are equivalent) OMIM:601495 E (Exact mapping: the two concepts are equivalent) OMIM:612692 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613501 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613502 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613506 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615214 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616941 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619693 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619707 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619824 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1832241 E (Exact mapping: the two concepts are equivalent) Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin. Orphanet ICD-10:C84.0 ICD-11:2B01 ICD-11:XH0EH1 UMLS:C0376407 Not applicable Adult Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33111 Granulomatous slack skin ORPHA:33111 ICD-10:C84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH0EH1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0376407 E (Exact mapping: the two concepts are equivalent) SCN due to G6PC3 deficiency SCN4 Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency Severe congenital neutropenia type 4 Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the <i>G6PC3</i> gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated. Orphanet ICD-10:D70 ICD-11:4B00.00 MeSH:C567260 OMIM:612541 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 57.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331176 Severe congenital neutropenia due to G6PC3 deficiency ORPHA:331176 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567260 E (Exact mapping: the two concepts are equivalent) OMIM:612541 E (Exact mapping: the two concepts are equivalent) Syndrome with constitutional neutropenia as a major feature Syndrome with genetic neutropenia as a major feature UMLS:C5680943 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331184 Syndrome with congenital neutropenia as a major feature Category ORPHA:331184 UMLS:C5680943 E (Exact mapping: the two concepts are equivalent) Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. Orphanet ICD-10:D84.1 ICD-11:4A00.1Y OMIM:613791 UMLS:C4749651 Adolescent Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331187 Immunodeficiency due to MASP-2 deficiency ORPHA:331187 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613791 E (Exact mapping: the two concepts are equivalent) UMLS:C4749651 E (Exact mapping: the two concepts are equivalent) Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear. Orphanet ICD-10:D84.1 ICD-11:4A00.1Y OMIM:613860 UMLS:C5680944 Childhood Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331190 Immunodeficiency due to ficolin3 deficiency ORPHA:331190 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613860 E (Exact mapping: the two concepts are equivalent) UMLS:C5680944 E (Exact mapping: the two concepts are equivalent) UMLS:C5680945 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331193 Other immunodeficiency syndromes due to defects in innate immunity Category ORPHA:331193 UMLS:C5680945 E (Exact mapping: the two concepts are equivalent) Fetal thalidomide syndrome Thalidomide embryopathy is a group of anomalies presented in infants as a result of <i>in utero</i> exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. Orphanet ICD-10:Q86.8 ICD-11:LD2F.0Y MedDRA:10071249 UMLS:C0432365 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3312 Thalidomide embryopathy ORPHA:3312 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10071249 E (Exact mapping: the two concepts are equivalent) UMLS:C0432365 E (Exact mapping: the two concepts are equivalent) SCID due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. Orphanet ICD-10:D81.1 OMIM:601457 UMLS:C5679852 Autosomal recessive Infancy Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency ORPHA:331206 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601457 E (Exact mapping: the two concepts are equivalent) UMLS:C5679852 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331217 Syndrome with combined immunodeficiency Category ORPHA:331217 UMLS:C5680946 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331220 Syndome with combined immunodeficiency due to thymic defect Category ORPHA:331220 UMLS:C5680946 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01.34 MedDRA:10051040 UMLS:C3887645 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331223 Hyper-IgE syndrome Clinical group ORPHA:331223 ICD-11:4A01.34 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10051040 E (Exact mapping: the two concepts are equivalent) UMLS:C3887645 E (Exact mapping: the two concepts are equivalent) A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses. Orphanet ICD-10:D82.4 MeSH:C566928 OMIM:611521 UMLS:C1969086 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331226 Susceptibility to infection due to TYK2 deficiency ORPHA:331226 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566928 E (Exact mapping: the two concepts are equivalent) OMIM:611521 E (Exact mapping: the two concepts are equivalent) UMLS:C1969086 E (Exact mapping: the two concepts are equivalent) UMLS:C5680939 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Category ORPHA:331232 UMLS:C5680939 E (Exact mapping: the two concepts are equivalent) Selective immunoglobulin M deficiency A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased. Orphanet ICD-10:D80.4 ICD-11:4A01.04 MedDRA:10039916 UMLS:C0154275 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331235 Selective IgM deficiency ORPHA:331235 ICD-10:D80.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10039916 E (Exact mapping: the two concepts are equivalent) UMLS:C0154275 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01.05 UMLS:C5680941 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Category ORPHA:331240 ICD-11:4A01.05 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680941 E (Exact mapping: the two concepts are equivalent) UMLS:C5680940 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331244 Other immunodeficiency syndrome with predominantly antibody defects Category ORPHA:331244 UMLS:C5680940 E (Exact mapping: the two concepts are equivalent) Genetic HLH with hypopigmentation Genetic hemophagocytic lymphohistiocytosis with hypopigmentation Primary HLH with hypopigmentation ICD-11:4A01.20 UMLS:C5680942 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation Category ORPHA:331249 ICD-11:4A01.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680942 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Thiele syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome ORPHA:3313 Aseptic necrosis of phalangeal epiphyses Osteochondrosis of phalangeal epiphyses A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. Orphanet ICD-10:M93.2 ICD-11:FB82.1 MeSH:C537144 OMIM:165700 Not applicable Adolescent Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3314 Thiemann disease, familial form ORPHA:3314 ICD-10:M93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537144 E (Exact mapping: the two concepts are equivalent) OMIM:165700 E (Exact mapping: the two concepts are equivalent) Potter sequence-cleft lip/palate-cardiopathy syndrome Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. Orphanet ICD-10:Q87.8 ICD-11:8A00.1Y MeSH:C536514 UMLS:C2931225 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3316 Thomas syndrome ORPHA:3316 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536514 E (Exact mapping: the two concepts are equivalent) UMLS:C2931225 E (Exact mapping: the two concepts are equivalent) 20p13 HOIL1 RBCK2 RNF54 UBCE7IP3 XAP4 ZRANB4 heme-oxidized IRP2 ubiquitin ligase 1 ClinVar:RBCK1 Ensembl:ENSG00000125826 Genatlas:RBCK1 HGNC:15864 OMIM:610924 Reactome:Q9BYM8 SwissProt:Q9BYM8 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 9q34.11 DPM synthase complex subunit MGC111193 MGC21559 ClinVar:DPM2 Ensembl:ENSG00000136908 Genatlas:DPM2 HGNC:3006 OMIM:603564 Reactome:O94777 SwissProt:O94777 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 15q13.1 D15F37S1 jdf2 p528 ClinVar:HERC2 Ensembl:ENSG00000128731 Genatlas:HERC2 HGNC:4868 OMIM:605837 Reactome:O95714 SwissProt:O95714 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 11q13.5 ADNIV HTRA3 nCL-3 ClinVar:CAPN5 Ensembl:ENSG00000149260 Genatlas:CAPN5 HGNC:1482 OMIM:602537 Reactome:O15484 SwissProt:O15484 CAPN5 calpain 5 11q13.1-q13.2 FLJ10209 KIAA1175 ClinVar:PACS1 Ensembl:ENSG00000175115 Genatlas:PACS1 HGNC:30032 OMIM:607492 Reactome:Q6VY07 SwissProt:Q6VY07 PACS1 phosphofurin acidic cluster sorting protein 1 Barnes syndrome Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. Orphanet ICD-10:Q77.2 ICD-11:LD24.BY MeSH:C536517 OMIM:187760 OMIM:187770 UMLS:C1861197 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3317 Thoracolaryngopelvic dysplasia ORPHA:3317 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.BY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536517 E (Exact mapping: the two concepts are equivalent) OMIM:187760 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:187770 E (Exact mapping: the two concepts are equivalent) UMLS:C1861197 E (Exact mapping: the two concepts are equivalent) 20q13.12 NIF-1 NRC-interacting factor 1 bA465L10.2 ClinVar:ZNF335 Ensembl:ENSG00000198026 Genatlas:ZNF335 HGNC:15807 OMIM:610827 Reactome:Q9H4Z2 SwissProt:Q9H4Z2 ZNF335 zinc finger protein 335 8q24.3 ARGP1 DGAT ClinVar:DGAT1 Ensembl:ENSG00000185000 Genatlas:DGAT1 HGNC:2843 IUPHAR:2821 OMIM:604900 Reactome:O75907 SwissProt:O75907 DGAT1 diacylglycerol O-acyltransferase 1 12q24.11 ClinVar:UBE3B Ensembl:ENSG00000151148 Genatlas:UBE3B HGNC:13478 OMIM:608047 Reactome:Q7Z3V4 SwissProt:Q7Z3V4 UBE3B ubiquitin protein ligase E3B Xp11.23 JM5 NBIA5 WIPI4 neurodegeneration with brain iron accumulation 5 ClinVar:WDR45 Ensembl:ENSG00000196998 Genatlas:WDR45 HGNC:28912 OMIM:300526 Reactome:Q9Y484 SwissProt:Q9Y484 WDR45 WD repeat domain 45 18p11.21 ClinVar:GNAL Ensembl:ENSG00000141404 Genatlas:GNAL HGNC:4388 OMIM:139312 Reactome:P38405 SwissProt:P38405 GNAL G protein subunit alpha L 16q24.3 ETO2 MTG16 MTGR2 Myeloid translocation gene 8 and 16b RUNX1T3 ZMYND4 myeloid translocation gene 8 and 16b ClinVar:CBFA2T3 Ensembl:ENSG00000129993 Genatlas:CBFA2T3 HGNC:1537 OMIM:603870 SwissProt:O75081 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ET Essential thrombocytosis Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage. Orphanet ICD-10:D47.3 ICD-11:3B63.1Z MeSH:D013920 MedDRA:10015493 OMIM:187950 OMIM:601977 OMIM:614521 UMLS:C0040028 Multigenic/multifactorial Not applicable All ages Europe AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_annual_incidence_average_value : 1.55 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 24.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3318 Essential thrombocythemia ORPHA:3318 ICD-10:D47.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3B63.1Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013920 E (Exact mapping: the two concepts are equivalent) MedDRA:10015493 E (Exact mapping: the two concepts are equivalent) OMIM:187950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:601977 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614521 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0040028 E (Exact mapping: the two concepts are equivalent) 12p11.21 DRP1 DVLP DYMPLE HDYNIV VPS1 ClinVar:DNM1L Ensembl:ENSG00000087470 Genatlas:DNM1L HGNC:2973 OMIM:603850 Reactome:O00429 SwissProt:O00429 DNM1L dynamin 1 like 16p13.3 ALR ERV1 ERV1 homolog (S. cerevisiae) FAD-linked sulfhydryl oxidase ALR HERV1 HPO1 HPO2 HSS hepatic regenerative stimulation substance ClinVar:GFER Ensembl:ENSG00000127554 Genatlas:GFER HGNC:4236 OMIM:600924 Reactome:P55789 SwissProt:P55789 GFER growth factor, augmenter of liver regeneration 12p13.31 C10 GRCC10 gene rich cluster C10 gene ClinVar:C12orf57 Ensembl:ENSG00000111678 Genatlas:C12orf57 HGNC:29521 OMIM:615140 SwissProt:Q99622 C12ORF57 chromosome 12 open reading frame 57 CAMT An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. Orphanet ICD-10:D61.0 ICD-11:3B64.01 MeSH:C535982 OMIM:604498 UMLS:C1327915 Autosomal recessive Neonatal United Kingdom AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3319 Congenital amegakaryocytic thrombocytopenia ORPHA:3319 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535982 E (Exact mapping: the two concepts are equivalent) OMIM:604498 E (Exact mapping: the two concepts are equivalent) UMLS:C1327915 E (Exact mapping: the two concepts are equivalent) 7p15.2 HNRNPA2 HNRNPB1 ClinVar:HNRNPA2B1 Ensembl:ENSG00000122566 Genatlas:HNRNPA2B1 HGNC:5033 OMIM:600124 Reactome:P22626 SwissProt:P22626 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 12q13.13 ALS20 hnRNP-A1 hnRNPA1 ClinVar:HNRNPA1 Ensembl:ENSG00000135486 Genatlas:HNRNPA1 HGNC:5031 OMIM:164017 Reactome:P09651 SwissProt:P09651 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 12q13.12 ClinVar:WNT1 Ensembl:ENSG00000125084 Genatlas:WNT1 HGNC:12774 OMIM:164820 Reactome:P04628 SwissProt:P04628 WNT1 Wnt family member 1 11p15.4 CWH43-N Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) FGF receptor activating protein 1 FRAG1 cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) ClinVar:PGAP2 Ensembl:ENSG00000148985 Genatlas:PGAP2 HGNC:17893 OMIM:615187 SwissProt:Q9UHJ9 PGAP2 post-GPI attachment to proteins 2 3p14.1 AER61 AER61 glycosyltransferase FLJ33770 ClinVar:EOGT Ensembl:ENSG00000163378 Genatlas:EOGT HGNC:28526 OMIM:614789 SwissProt:Q5NDL2 EOGT EGF domain specific O-linked N-acetylglucosamine transferase 19p13.3 ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human ClinVar:CLPP Ensembl:ENSG00000125656 Genatlas:CLPP HGNC:2084 IUPHAR:3273 OMIM:601119 SwissProt:Q16740 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit 3p21.31 KIAA0028 LEURS Leucine tRNA ligase 2, mitochondrial MGC26121 leucine tRNA ligase 2, mitochondrial mtLeuRS ClinVar:LARS2 Ensembl:ENSG00000011376 Genatlas:LARS2 HGNC:17095 OMIM:604544 Reactome:Q15031 SwissProt:Q15031 LARS2 leucyl-tRNA synthetase 2, mitochondrial 18q11.2 ClinVar:KCTD1 Ensembl:ENSG00000134504 Genatlas:KCTD1 HGNC:18249 OMIM:613420 Reactome:Q719H9 SwissProt:Q719H9 KCTD1 potassium channel tetramerization domain containing 1 Congenital pernicious anemia Gastric intrinsic factor deficiency Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency IFD Intrinsic factor deficiency Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. Orphanet ICD-10:D51.0 ICD-11:3A01.0 MeSH:C563242 MedDRA:10070440 OMIM:243320 OMIM:261000 UMLS:C1394891 Autosomal recessive Not applicable Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=332 Congenital intrinsic factor deficiency ORPHA:332 ICD-10:D51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563242 E (Exact mapping: the two concepts are equivalent) MedDRA:10070440 E (Exact mapping: the two concepts are equivalent) OMIM:243320 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:261000 E (Exact mapping: the two concepts are equivalent) UMLS:C1394891 E (Exact mapping: the two concepts are equivalent) TAR syndrome A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C536940 MedDRA:10071719 OMIM:274000 UMLS:C0175703 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3320 Thrombocytopenia-absent radius syndrome ORPHA:3320 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536940 E (Exact mapping: the two concepts are equivalent) MedDRA:10071719 E (Exact mapping: the two concepts are equivalent) OMIM:274000 E (Exact mapping: the two concepts are equivalent) UMLS:C0175703 E (Exact mapping: the two concepts are equivalent) 16p11.2 ClinVar:TBX6 Ensembl:ENSG00000149922 Genatlas:TBX6 HGNC:11605 OMIM:602427 Reactome:O95947 SwissProt:O95947 TBX6 T-box transcription factor 6 11q13.2 B3GN-T1 BETA3GNTI IGnT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase iGAT iGNT iGnT ClinVar:B3GNT1 Ensembl:ENSG00000174684 Genatlas:B3GNT1 HGNC:15685 OMIM:605517 Reactome:O43505 SwissProt:O43505 B4GAT1 beta-1,4-glucuronyltransferase 1 18p11.22-p11.21 FLJ23144 FLJ23403 FLJ34907 HsT748 HsT771 ClinVar:PIEZO2 Ensembl:ENSG00000154864 Genatlas:PIEZO2 HGNC:26270 IUPHAR:2946 OMIM:613629 SwissProt:Q9H5I5 PIEZO2 piezo type mechanosensitive ion channel component 2 3p21.1 ClinVar:PRKCD Ensembl:ENSG00000163932 Genatlas:PRKCD HGNC:9399 IUPHAR:1485 OMIM:176977 Reactome:Q05655 SwissProt:Q05655 PRKCD protein kinase C delta Idiopathic excessive sleepiness A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded. Orphanet ICD-10:F51.1 ICD-11:7A21 MeSH:D020177 UMLS:C0751757 Unknown All ages Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33208 Idiopathic hypersomnia ORPHA:33208 ICD-10:F51.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:7A21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020177 E (Exact mapping: the two concepts are equivalent) UMLS:C0751757 E (Exact mapping: the two concepts are equivalent) 19q13.2 PE-2 PE2 ClinVar:ERF Ensembl:ENSG00000105722 Genatlas:ERF HGNC:3444 OMIM:611888 Reactome:P50548 SwissProt:P50548 ERF ETS2 repressor factor 17q21.2 BAF57 ClinVar:SMARCE1 Ensembl:ENSG00000073584 Genatlas:SMARCE1 HGNC:11109 OMIM:603111 Reactome:Q969G3 SwissProt:Q969G3 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 1p36.22 MAP-2 Map19 mannose-binding lectin associated protein 19 mannose-binding lectin-associated serine protease 2 sMAP ClinVar:MASP2 Ensembl:ENSG00000009724 Genatlas:MASP2 HGNC:6902 OMIM:605102 Reactome:O00187 SwissProt:O00187 MASP2 MBL associated serine protease 2 1p36.11 FCNH HAKA1 Hakata antigen ClinVar:FCN3 Ensembl:ENSG00000142748 Genatlas:FCN3 HGNC:3625 OMIM:604973 Reactome:O75636 SwissProt:O75636 FCN3 ficolin 3 Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. Orphanet ICD-10:D61.0 ICD-11:3A70.0 MeSH:C536068 OMIM:305000 OMIM:613989 OMIM:613990 OMIM:615190 OMIM:616353 OMIM:616553 UMLS:C1846142 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3322 Hoyeraal-Hreidarsson syndrome ORPHA:3322 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536068 E (Exact mapping: the two concepts are equivalent) OMIM:305000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613989 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615190 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616353 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616553 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1846142 E (Exact mapping: the two concepts are equivalent) Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. Orphanet ICD-10:C88.0 ICD-11:2A85.4 MeSH:D008258 MedDRA:10047801 OMIM:153600 OMIM:610430 UMLS:C0024419 Multigenic/multifactorial Elderly Europe AND has_annual_incidence_average_value : 0.81 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.05 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.55 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33226 Waldenström macroglobulinemia ORPHA:33226 ICD-10:C88.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A85.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008258 E (Exact mapping: the two concepts are equivalent) MedDRA:10047801 E (Exact mapping: the two concepts are equivalent) OMIM:153600 E (Exact mapping: the two concepts are equivalent) OMIM:610430 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024419 E (Exact mapping: the two concepts are equivalent) Thrombocytopenia-Robin sequence syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 21q22.11q22.12 microdeletion syndrome Braddock-Carey syndrome ORPHA:3323 A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis. Orphanet ICD-10:D68.8 ICD-11:3B61.0Y MeSH:C536900 UMLS:C2931365 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3324 Familial thrombomodulin anomalies ORPHA:3324 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536900 E (Exact mapping: the two concepts are equivalent) UMLS:C2931365 E (Exact mapping: the two concepts are equivalent) 17p13.1 APO3L DR3LG TWEAK ClinVar:TNFSF12 Ensembl:ENSG00000239697 Genatlas:TNFSF12 HGNC:11927 OMIM:602695 Reactome:O43508 SwissProt:O43508 TNFSF12 TNF superfamily member 12 1q32.1 TAG-1 TAX1 ClinVar:CNTN2 Ensembl:ENSG00000184144 Genatlas:CNTN2 HGNC:2172 OMIM:190197 Reactome:Q02246 SwissProt:Q02246 CNTN2 contactin 2 HAT HIT Heparin-associated thrombocytopenia Heparin-induced thrombocytopenia type 2 A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis. Orphanet ICD-10:D69.5 ICD-11:3B64.12 MedDRA:10062506 UMLS:C0272285 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3325 Heparin-induced thrombocytopenia ORPHA:3325 ICD-10:D69.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10062506 E (Exact mapping: the two concepts are equivalent) UMLS:C0272285 E (Exact mapping: the two concepts are equivalent) This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. Orphanet ICD-10:Q87.8 MeSH:C536907 OMIM:274265 UMLS:C1848812 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3326 Thymic-renal-anal-lung dysplasia ORPHA:3326 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536907 E (Exact mapping: the two concepts are equivalent) OMIM:274265 E (Exact mapping: the two concepts are equivalent) UMLS:C1848812 E (Exact mapping: the two concepts are equivalent) Cutler-Bass-Romshe syndrome A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:N15.8 OMIM:274240 UMLS:C4518579 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3327 Thyrocerebrorenal syndrome ORPHA:3327 ICD-10:N15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:274240 E (Exact mapping: the two concepts are equivalent) UMLS:C4518579 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: NAFLD This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-alcoholic fatty liver disease ORPHA:33271 A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement. Orphanet ICD-10:C46.0 ICD-10:C46.1 ICD-10:C46.2 ICD-10:C46.3 ICD-10:C46.7 ICD-10:C46.8 ICD-10:C46.9 ICD-11:1C60.30 ICD-11:1C61.30 ICD-11:2B57 ICD-11:2B57.0 ICD-11:2B57.1 ICD-11:2B57.2 ICD-11:2B57.Y ICD-11:XH36A5 MeSH:D012514 MedDRA:10023284 OMIM:148000 UMLS:C0036220 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.099 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 2.11 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 1.363 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 1.142 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.108 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.112 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.597 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.278 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.915 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.546 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.163 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.192 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33276 Kaposi sarcoma ORPHA:33276 ICD-10:C46.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C46.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C46.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C46.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C46.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C46.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C46.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C60.30 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C61.30 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B57 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B57.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B57.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B57.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B57.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH36A5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012514 E (Exact mapping: the two concepts are equivalent) MedDRA:10023284 E (Exact mapping: the two concepts are equivalent) OMIM:148000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0036220 E (Exact mapping: the two concepts are equivalent) Holmes-Collins syndrome Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Orphanet ICD-10:Q87.5 MeSH:C536918 OMIM:601027 UMLS:C4518567 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3328 Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536918 E (Exact mapping: the two concepts are equivalent) OMIM:601027 E (Exact mapping: the two concepts are equivalent) UMLS:C4518567 E (Exact mapping: the two concepts are equivalent) Aplasia of tibia with split-hand/split-foot deformity SHFLD syndrome SHFM associated with aplasia of long bones Split hand/foot malformation with long bone deficiency Split-hand/foot malformation associated with aplasia of long bones TH-SHFM Tibial hemimelia with split hand/foot malformation Tibial hemimelia-ectrodactyly syndrome Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Orphanet ICD-10:Q73.8 ICD-11:LD26.0 MeSH:C536425 OMIM:119100 OMIM:610685 OMIM:612576 UMLS:C4551989 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3329 Tibial aplasia-ectrodactyly syndrome ORPHA:3329 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536425 E (Exact mapping: the two concepts are equivalent) OMIM:119100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610685 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612576 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551989 E (Exact mapping: the two concepts are equivalent) 10q21.3 KIAA0083 ClinVar:DNA2 Ensembl:ENSG00000138346 Genatlas:DNA2 HGNC:2939 OMIM:601810 Reactome:P51530 SwissProt:P51530 DNA2 DNA replication helicase/nuclease 2 Acid ceramidase deficiency Farber lipogranulomatosis A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MeSH:D055577 OMIM:228000 UMLS:C0268255 Autosomal recessive Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 96.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=333 Farber disease ORPHA:333 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D055577 E (Exact mapping: the two concepts are equivalent) OMIM:228000 E (Exact mapping: the two concepts are equivalent) UMLS:C0268255 E (Exact mapping: the two concepts are equivalent) 6q21 LAMA3 ClinVar:LAMA4 Ensembl:ENSG00000112769 Genatlas:LAMA4 HGNC:6484 OMIM:600133 Reactome:Q16363 SwissProt:Q16363 LAMA4 laminin subunit alpha 4 7p22.2 BIMP3 CARMA1 bcl10-interacting maguk protein 3 card-maguk protein 1 ClinVar:CARD11 Ensembl:ENSG00000198286 Genatlas:CARD11 HGNC:16393 OMIM:607210 Reactome:Q9BXL7 SwissProt:Q9BXL7 CARD11 caspase recruitment domain family member 11 OBSOLETE: Chitty-Hall-Webb syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with decreased bone density OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome ORPHA:3331 2q33.3 ClinVar:CRYGB Ensembl:ENSG00000182187 Genatlas:CRYGB HGNC:2409 OMIM:123670 SwissProt:P07316 CRYGB crystallin gamma B Jessner-Kanof lymphocytic infiltration of the skin A rare chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. Orphanet ICD-10:L98.6 ICD-11:EE90 MedDRA:10063628 UMLS:C0580181 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33314 Jessner lymphocytic infiltration of the skin ORPHA:33314 ICD-10:L98.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE90 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10063628 E (Exact mapping: the two concepts are equivalent) UMLS:C0580181 E (Exact mapping: the two concepts are equivalent) Hypoplastic tibia-polydactyly syndrome Werner mesomelic syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Hypoplastic tibiae-postaxial polydactyly syndrome ORPHA:3332 Spellacy-Gibbs-Watts syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rothmund-Thomson syndrome Connective tissue dysplasia, Spellacy type ORPHA:3333 AK2 deficiency De Vaal disease SCID with sensorineural deafness SCID with sensorineural hearing loss Severe combined immunodeficiency with sensorineural deafness Severe combined immunodeficiency with sensorineural hearing loss Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. Orphanet ICD-10:D81.0 ICD-11:4A01.10 MeSH:C538361 OMIM:267500 UMLS:C0272167 Autosomal recessive Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33355 Reticular dysgenesis ORPHA:33355 ICD-10:D81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538361 E (Exact mapping: the two concepts are equivalent) OMIM:267500 E (Exact mapping: the two concepts are equivalent) UMLS:C0272167 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to ATP13A2-related juvenile neuronal ceroid lipofuscinosis TomÚ-Brunet-Fardeau syndrome ORPHA:3336 A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Orphanet ICD-10:L67.8 ICD-11:EC21.1 MeSH:D054463 MedDRA:10044628 OMIM:234050 OMIM:300953 OMIM:601675 OMIM:616390 OMIM:616395 OMIM:616943 OMIM:618546 OMIM:619691 OMIM:619692 UMLS:C1955934 Autosomal recessive X-linked recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 201.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33364 Trichothiodystrophy ORPHA:33364 ICD-10:L67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054463 E (Exact mapping: the two concepts are equivalent) MedDRA:10044628 E (Exact mapping: the two concepts are equivalent) OMIM:234050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300953 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601675 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616390 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616395 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616943 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618546 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619691 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619692 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1955934 E (Exact mapping: the two concepts are equivalent) DeToni-Debré-Fanconi syndrome Primary Fanconi renal syndrome A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening. Orphanet ICD-10:E72.0 ICD-11:GB90.42 OMIM:134600 OMIM:613388 OMIM:615605 OMIM:618913 UMLS:C5679829 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3337 Primary Fanconi renotubular syndrome ORPHA:3337 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:GB90.42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:134600 E (Exact mapping: the two concepts are equivalent) OMIM:613388 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615605 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618913 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679829 E (Exact mapping: the two concepts are equivalent) Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C563127 OMIM:217980 UMLS:C0796184 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 59.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3338 Toriello-Carey syndrome ORPHA:3338 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563127 E (Exact mapping: the two concepts are equivalent) OMIM:217980 E (Exact mapping: the two concepts are equivalent) UMLS:C0796184 E (Exact mapping: the two concepts are equivalent) Aplasia cutis congenita-epibulbar dermoids syndrome A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C563969 OMIM:600268 UMLS:C1838329 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3339 Oculoectodermal syndrome ORPHA:3339 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563969 E (Exact mapping: the two concepts are equivalent) OMIM:600268 E (Exact mapping: the two concepts are equivalent) UMLS:C1838329 E (Exact mapping: the two concepts are equivalent) Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported. Orphanet ICD-10:I48.9 ICD-11:BC65.Y MedDRA:10088317 OMIM:607554 OMIM:608583 OMIM:608988 OMIM:611493 OMIM:611494 OMIM:611819 OMIM:612201 OMIM:612240 OMIM:613055 OMIM:613120 OMIM:613980 OMIM:614022 OMIM:614049 OMIM:614050 OMIM:615377 OMIM:615378 OMIM:615770 OMIM:617280 UMLS:C3468561 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=334 Familial atrial fibrillation ORPHA:334 ICD-10:I48.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10088317 E (Exact mapping: the two concepts are equivalent) OMIM:607554 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608583 E (Exact mapping: the two concepts are equivalent) OMIM:608988 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611493 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611494 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611819 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:612201 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612240 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613055 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613120 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613980 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614022 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614049 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615377 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615378 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615770 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617280 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3468561 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Torres-Aybar syndrome ORPHA:3340 Childhood-onset HCC Childhood-onset hepatocellular carcinoma Pediatric HCC A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases). Orphanet ICD-10:C22.0 OMIM:114550 UMLS:C0279606 Not applicable Adolescent Childhood Europe AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33402 Pediatric hepatocellular carcinoma ORPHA:33402 ICD-10:C22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:114550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0279606 E (Exact mapping: the two concepts are equivalent) Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions. Orphanet ICD-10:L43.1 ICD-11:EA91.Y MedDRA:10056960 UMLS:C0023648 Autosomal dominant Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33408 Bullous lichen planus ORPHA:33408 ICD-10:L43.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EA91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10056960 E (Exact mapping: the two concepts are equivalent) UMLS:C0023648 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Lichen sclerosus et atrophicus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:L90.0 NON RARE IN EUROPE: Lichen sclerosus ORPHA:33409 ICD-10:L90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Orphanet ICD-10:Q87.8 MeSH:C536970 OMIM:314300 UMLS:C4749808 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome ORPHA:3341 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536970 E (Exact mapping: the two concepts are equivalent) OMIM:314300 E (Exact mapping: the two concepts are equivalent) UMLS:C4749808 E (Exact mapping: the two concepts are equivalent) ATS A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. Orphanet ICD-10:I77.1 ICD-11:LD28.Y MeSH:C565942 MedDRA:10080250 OMIM:208050 UMLS:C1859726 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 102.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3342 Arterial tortuosity syndrome ORPHA:3342 ICD-10:I77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565942 E (Exact mapping: the two concepts are equivalent) MedDRA:10080250 E (Exact mapping: the two concepts are equivalent) OMIM:208050 E (Exact mapping: the two concepts are equivalent) UMLS:C1859726 E (Exact mapping: the two concepts are equivalent) A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids <i>Toxocara canis</i> or <i>Toxocara cati</i>, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring). Orphanet ICD-10:B83.0 ICD-11:1F6D MeSH:D014120 MedDRA:10044269 UMLS:C0040553 Not applicable Childhood United States AND has_annual_incidence_average_value : 3.3 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3343 Toxocariasis ORPHA:3343 ICD-10:B83.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F6D - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014120 E (Exact mapping: the two concepts are equivalent) MedDRA:10044269 E (Exact mapping: the two concepts are equivalent) UMLS:C0040553 E (Exact mapping: the two concepts are equivalent) Anterior bowing of legs with dwarfism Toxopachyosteose diaphysaire tibio-peroniere WNS Weismann-Netter-Stuhl syndrome Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. Orphanet ICD-10:Q77.8 ICD-11:LD24.C MeSH:C537082 OMIM:112350 UMLS:C1862172 Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3344 Weismann-Netter syndrome ORPHA:3344 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537082 E (Exact mapping: the two concepts are equivalent) OMIM:112350 E (Exact mapping: the two concepts are equivalent) UMLS:C1862172 E (Exact mapping: the two concepts are equivalent) Elejalde neuroectodermal melanolysosomal disease A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. Orphanet ICD-10:L81.4 ICD-11:LD27.Y MeSH:C536203 OMIM:256710 UMLS:C1860157 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33445 Neuroectodermal melanolysosomal disease ORPHA:33445 ICD-10:L81.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536203 E (Exact mapping: the two concepts are equivalent) OMIM:256710 E (Exact mapping: the two concepts are equivalent) UMLS:C1860157 E (Exact mapping: the two concepts are equivalent) Tracheal atresia A rare congenital malformation characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent. Orphanet ICD-10:Q32.1 ICD-11:LA73.Y MeSH:C536975 UMLS:C1261567 Unknown Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3346 Tracheal agenesis ORPHA:3346 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536975 E (Exact mapping: the two concepts are equivalent) UMLS:C1261567 E (Exact mapping: the two concepts are equivalent) Congenital tracheobronchomegaly Idiopathic tracheobronchomegaly Tracheobronchomegaly A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections. Orphanet ICD-10:J98.0 ICD-11:CA27.1 MeSH:D014137 MedDRA:10044316 OMIM:275300 UMLS:C0040587 Not applicable All ages Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3347 Mounier-Kühn syndrome ORPHA:3347 ICD-10:J98.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014137 E (Exact mapping: the two concepts are equivalent) MedDRA:10044316 E (Exact mapping: the two concepts are equivalent) OMIM:275300 E (Exact mapping: the two concepts are equivalent) UMLS:C0040587 E (Exact mapping: the two concepts are equivalent) Meningococcal meningitis is an acute bacterial disease caused by <i>Neisseria meningitides</i> that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. Orphanet ICD-10:A39.0+ ICD-10:G01* ICD-11:1C1C.0 MeSH:D008585 MedDRA:10027249 UMLS:C0025294 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.3 AND has_annual_incidence_range : 1-9 / 100 000 New Zealand AND has_annual_incidence_average_value : 2.7 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33475 Meningococcal meningitis ORPHA:33475 ICD-10:A39.0+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:G01* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1C.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008585 E (Exact mapping: the two concepts are equivalent) MedDRA:10027249 E (Exact mapping: the two concepts are equivalent) UMLS:C0025294 E (Exact mapping: the two concepts are equivalent) Tracheopathia osteoplastica A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls. Orphanet ICD-10:J98.0 ICD-11:CA27.0 MeSH:C536977 OMIM:189961 UMLS:C0520538 Unknown Adult Childhood Elderly Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3348 Tracheobronchopathia osteochondroplastica ORPHA:3348 ICD-10:J98.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA27.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536977 E (Exact mapping: the two concepts are equivalent) OMIM:189961 E (Exact mapping: the two concepts are equivalent) UMLS:C0520538 E (Exact mapping: the two concepts are equivalent) Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant optic atrophy plus syndrome MeSH:C536544 UMLS:C2931235 Treft-Sanborn-Carey syndrome ORPHA:3349 MeSH:C536544 E (Exact mapping: the two concepts are equivalent) UMLS:C2931235 E (Exact mapping: the two concepts are equivalent) Rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). Orphanet ICD-10:D68.2 ICD-11:3B14.0 OMIM:202400 OMIM:616004 UMLS:C2062367 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=335 Congenital fibrinogen deficiency ORPHA:335 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:202400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616004 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2062367 E (Exact mapping: the two concepts are equivalent) Neuhauser-Daly-Magnelli syndrome Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976. Orphanet ICD-10:G25.0 MeSH:C536406 OMIM:190310 UMLS:C1860860 Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3350 Tremor-nystagmus-duodenal ulcer syndrome ORPHA:3350 ICD-10:G25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536406 E (Exact mapping: the two concepts are equivalent) OMIM:190310 E (Exact mapping: the two concepts are equivalent) UMLS:C1860860 E (Exact mapping: the two concepts are equivalent) Kersey syndrome A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C536551 OMIM:601453 UMLS:C0406724 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3351 Trichodental syndrome ORPHA:3351 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536551 E (Exact mapping: the two concepts are equivalent) OMIM:601453 E (Exact mapping: the two concepts are equivalent) UMLS:C0406724 E (Exact mapping: the two concepts are equivalent) TDO syndrome Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C536549 OMIM:190320 UMLS:C0265333 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3352 Tricho-dento-osseous syndrome ORPHA:3352 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536549 E (Exact mapping: the two concepts are equivalent) OMIM:190320 E (Exact mapping: the two concepts are equivalent) UMLS:C0265333 E (Exact mapping: the two concepts are equivalent) Pinheiro-Freire Maia-Miranda syndrome Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C537402 UMLS:C2931485 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3353 Trichodermodysplasia-dental alterations syndrome ORPHA:3353 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537402 E (Exact mapping: the two concepts are equivalent) UMLS:C2931485 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Alves-dos Santos-Castelo syndrome OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrogryposis-ectodermal dysplasia syndrome OBSOLETE: Tricho-oculo-dermo-vertebral syndrome ORPHA:3354 Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. Orphanet ICD-10:G47.8 ICD-11:7A22 MeSH:D017593 MedDRA:10053712 OMIM:148840 UMLS:C0206085 Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.18 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33543 Kleine-Levin syndrome ORPHA:33543 ICD-10:G47.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:7A22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017593 E (Exact mapping: the two concepts are equivalent) MedDRA:10053712 E (Exact mapping: the two concepts are equivalent) OMIM:148840 E (Exact mapping: the two concepts are equivalent) UMLS:C0206085 E (Exact mapping: the two concepts are equivalent) Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C564760 OMIM:275450 UMLS:C3502453 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3355 Trichoodontoonychial dysplasia ORPHA:3355 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564760 E (Exact mapping: the two concepts are equivalent) OMIM:275450 E (Exact mapping: the two concepts are equivalent) UMLS:C3502453 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Trueb-Burg-Bottani syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Ectodermal dysplasia syndrome OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly ORPHA:3357 Oxoprolinuria due to oxoprolinase deficiency A very heterogeneous condition characterized by 5-oxoprolinuria. Orphanet ICD-10:E72.8 ICD-11:5C50.5 MeSH:C535322 OMIM:260005 UMLS:C0268525 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33572 5-oxoprolinase deficiency ORPHA:33572 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535322 E (Exact mapping: the two concepts are equivalent) OMIM:260005 E (Exact mapping: the two concepts are equivalent) UMLS:C0268525 E (Exact mapping: the two concepts are equivalent) Gamma-glutamyl transferase deficiency Glutathionuria A disorder that is characterized by increased glutathione concentration in the plasma and urine. Orphanet ICD-10:E72.8 ICD-11:5C50.5 MeSH:C536836 OMIM:231950 UMLS:C0268524 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33573 Gamma-glutamyl transpeptidase deficiency ORPHA:33573 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536836 E (Exact mapping: the two concepts are equivalent) OMIM:231950 E (Exact mapping: the two concepts are equivalent) UMLS:C0268524 E (Exact mapping: the two concepts are equivalent) Gamma-glutamylcysteine synthetase deficiency A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. Orphanet ICD-10:D55.1 ICD-11:3A10.0Y OMIM:230450 UMLS:C0268523 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33574 Glutamate-cysteine ligase deficiency ORPHA:33574 ICD-10:D55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:230450 E (Exact mapping: the two concepts are equivalent) UMLS:C0268523 E (Exact mapping: the two concepts are equivalent) Idiopathic lobular panniculitis Idiopathic nodular panniculitis Pfeiffer-Weber-Christian syndrome Relapsing febrile nodular nonsuppurative panniculitis Relapsing febrile nodular panniculitis WCD Weber-Christian disease Weber-Christian panniculitis A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. Orphanet ICD-10:M35.6 ICD-11:EF00.Y MeSH:D010201 MedDRA:10047883 UMLS:C0030328 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=33577 Nodular non-suppurative panniculitis ORPHA:33577 ICD-10:M35.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EF00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D010201 E (Exact mapping: the two concepts are equivalent) MedDRA:10047883 E (Exact mapping: the two concepts are equivalent) UMLS:C0030328 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:I77.3 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries ORPHA:336 ICD-10:I77.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Trichodermal syndrome-intellectual disability syndrome ORPHA:3360 Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:L67.8 OMIM:190360 UMLS:C4707844 Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3361 Trichodysplasia-xeroderma syndrome ORPHA:3361 ICD-10:L67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:190360 E (Exact mapping: the two concepts are equivalent) UMLS:C4707844 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Goldstein-Hutt syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated trichomegaly OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome ORPHA:3362 Long eyelashes-intellectual disability syndrome Oliver-McFarlane syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Orphanet ICD-10:Q87.1 ICD-11:LD27.0Y MeSH:C536554 OMIM:275400 UMLS:C1848745 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536554 E (Exact mapping: the two concepts are equivalent) OMIM:275400 E (Exact mapping: the two concepts are equivalent) UMLS:C1848745 E (Exact mapping: the two concepts are equivalent) Hunter-Rudd-Hoffmann syndrome Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Orphanet ICD-10:Q87.0 UMLS:C4304968 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3365 Trigonocephaly-broad thumbs syndrome ORPHA:3365 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304968 E (Exact mapping: the two concepts are equivalent) Isolated metopic craniosynostosis Isolated trigonocephaly Non-syndromic metopic suture synostosis Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y OMIM:190440 OMIM:614485 UMLS:C0265535 Autosomal dominant Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 10.2979 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3366 Non-syndromic metopic craniosynostosis ORPHA:3366 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:190440 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614485 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265535 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q87.0 OMIM:275595 UMLS:C4304969 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3368 Trigonocephaly-bifid nose-acral anomalies syndrome ORPHA:3368 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:275595 E (Exact mapping: the two concepts are equivalent) UMLS:C4304969 E (Exact mapping: the two concepts are equivalent) Say-Meyer syndrome A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. Orphanet ICD-10:Q87.0 MeSH:C536620 OMIM:314320 UMLS:C1839125 Unknown No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3369 Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536620 E (Exact mapping: the two concepts are equivalent) OMIM:314320 E (Exact mapping: the two concepts are equivalent) UMLS:C1839125 E (Exact mapping: the two concepts are equivalent) FOP Myositis ossificans progressiva Stone man syndrome Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. Orphanet ICD-10:M61.1 ICD-11:FB31.1 MeSH:D009221 MedDRA:10068715 OMIM:135100 UMLS:C0016037 Autosomal dominant Not applicable Childhood Europe AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.136 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.087 AND has_birth_prevalence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.036 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.061 AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.085 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=337 Fibrodysplasia ossificans progressiva ORPHA:337 ICD-10:M61.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB31.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009221 E (Exact mapping: the two concepts are equivalent) MedDRA:10068715 E (Exact mapping: the two concepts are equivalent) OMIM:135100 E (Exact mapping: the two concepts are equivalent) UMLS:C0016037 E (Exact mapping: the two concepts are equivalent) Triophthalmia Triopia Unilateral diplophthalmia Unilateral diplophthalmos A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. Orphanet ICD-10:Q15.8 UMLS:C5816687 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3374 Unilateral ocular duplication ORPHA:3374 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816687 E (Exact mapping: the two concepts are equivalent) 47,XXX syndrome Triplo-X syndrome XXX syndrome A rare sex-chromosome anomaly characterized by a variable phenotype, including various degree of global developmental delay, tall stature, epicanthal folds, hypotonia, and clinodactyly in association with seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF). Orphanet ICD-10:Q97.0 ICD-11:LD50.1 MeSH:C535318 MedDRA:10076910 UMLS:C0221033 Not applicable Childhood Infancy Europe AND has_point_prevalence_average_value : 42.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3375 Trisomy X syndrome ORPHA:3375 ICD-10:Q97.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD50.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535318 E (Exact mapping: the two concepts are equivalent) MedDRA:10076910 E (Exact mapping: the two concepts are equivalent) UMLS:C0221033 E (Exact mapping: the two concepts are equivalent) Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal. Orphanet ICD-10:Q92.7 ICD-11:LD42.0 MeSH:D057885 UMLS:C0333693 Not applicable Unknown Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3376 Triploidy syndrome ORPHA:3376 ICD-10:Q92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD42.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D057885 E (Exact mapping: the two concepts are equivalent) UMLS:C0333693 E (Exact mapping: the two concepts are equivalent) Distal arthrogryposis type 7 Dutch-Kentucky syndrome Hecht syndrome Hecht-Beals syndrome A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C535857 OMIM:158300 UMLS:C0265226 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3377 Trismus-pseudocamptodactyly syndrome ORPHA:3377 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535857 E (Exact mapping: the two concepts are equivalent) OMIM:158300 E (Exact mapping: the two concepts are equivalent) UMLS:C0265226 E (Exact mapping: the two concepts are equivalent) Patau syndrome A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia. Orphanet ICD-10:Q91.4 ICD-10:Q91.5 ICD-10:Q91.6 ICD-10:Q91.7 ICD-11:LD40.1 MeSH:D000073839 MedDRA:10044686 UMLS:C2936830 Not applicable Unknown Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 7.2 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_point_prevalence_average_value : 15.9 AND has_point_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 24.1 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3378 Trisomy 13 syndrome ORPHA:3378 ICD-10:Q91.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q91.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q91.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q91.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000073839 E (Exact mapping: the two concepts are equivalent) MedDRA:10044686 E (Exact mapping: the two concepts are equivalent) UMLS:C2936830 E (Exact mapping: the two concepts are equivalent) Distal trisomy 17q Telomeric duplication 17q Trisomy 17qter Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. Orphanet ICD-10:Q92.3 MeSH:C536579 UMLS:C4707663 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3379 Distal duplication 17q syndrome ORPHA:3379 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536579 E (Exact mapping: the two concepts are equivalent) UMLS:C4707663 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Birt-Hogg-Dubé syndrome Familial multiple fibrofolliculoma ORPHA:338 Chromosome 18 duplication Edwards syndrome A rare chromosomal abnormality characterized by the presence of an extra chromosome&nbsp;18 material and manifesting with severe intellectual disability growth delay, and extremely variable multiple congenital anomalies, including minor malformations (cranio-facial dysmorphia, short sternum, overlapping fingers) and major malformations, especially cardiac and cerebral. Neurological involvement may lead to seizures and hypotonia. Orphanet ICD-10:Q91.0 ICD-10:Q91.1 ICD-10:Q91.2 ICD-10:Q91.3 ICD-11:LD40.2 MeSH:D000073842 MedDRA:10053884 UMLS:C4317091 Not applicable Unknown Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 8.9 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 38.8 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 10.4 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 4.4 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 25.3 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_point_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 48.2 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 11.2 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 4.4 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 9.5 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 24.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 13.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 19.1 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 16.7 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3380 Trisomy 18 syndrome ORPHA:3380 ICD-10:Q91.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q91.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q91.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q91.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD40.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000073842 E (Exact mapping: the two concepts are equivalent) MedDRA:10053884 E (Exact mapping: the two concepts are equivalent) UMLS:C4317091 E (Exact mapping: the two concepts are equivalent) An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. Orphanet ICD-10:Q74.0 MeSH:C566022 OMIM:191000 UMLS:C1860773 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3383 Humerus trochlea aplasia ORPHA:3383 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566022 E (Exact mapping: the two concepts are equivalent) OMIM:191000 E (Exact mapping: the two concepts are equivalent) UMLS:C1860773 E (Exact mapping: the two concepts are equivalent) CAT Common aorticopulmonary trunk Truncus arteriosus Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (<I>i.e.</I> truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance. Orphanet ICD-10:Q20.0 ICD-11:LA85.4 MeSH:D014339 OMIM:217095 UMLS:C0041207 Not applicable Infancy Neonatal Belgium AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 7.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3384 Common arterial trunk ORPHA:3384 ICD-10:Q20.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA85.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014339 E (Exact mapping: the two concepts are equivalent) OMIM:217095 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0041207 E (Exact mapping: the two concepts are equivalent) Sleeping sickness A rare parasitic disease characterized by infection with the protozoans <i>Trypanosoma brucei rhodesiense</i> (East African trypanosomiasis) or <i>T. brucei gambiense</i> (West African trypanosomiasis), usually due to the bite of an infected tsetse fly. The first, hemolymphatic stage presents with fever, headaches, fatigue, lymphadenopathy, and aching muscles and joints. In East African trypanosomiasis, the fly bite may develop into a red sore or chancre. This form then progresses to CNS invasion with somnolence and other neurologic and psychiatric symptoms within a few weeks, while West African trypanosomiasis slowly progresses within about 3 years. Both forms are fatal if left untreated. Orphanet ICD-10:B56.0 ICD-10:B56.1 ICD-10:B56.9 ICD-11:1F51 MeSH:D014353 MedDRA:10001461 UMLS:C0041228 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3385 African trypanosomiasis ORPHA:3385 ICD-10:B56.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B56.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B56.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014353 E (Exact mapping: the two concepts are equivalent) MedDRA:10001461 E (Exact mapping: the two concepts are equivalent) UMLS:C0041228 E (Exact mapping: the two concepts are equivalent) Chagas disease A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly <i>Triatoma infestans</i> and <i>Rhodnius prolixus</i> and <i>Panstrongylus megistus</i>) harboring the hemoflagellate protozoan parasite <i>Trypanosoma cruzi</i>. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates. Orphanet ICD-10:B57.0 ICD-10:B57.1 ICD-10:B57.2 ICD-10:B57.3 ICD-10:B57.4 ICD-10:B57.5 ICD-11:1F53 ICD-11:1F53.1 ICD-11:1F53.2 ICD-11:1F53.3 ICD-11:1F53.4 MeSH:D014355 MedDRA:10001935 UMLS:C0041234 Not applicable All ages Belgium AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_range : <1 / 1 000 000 Italy AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_range : <1 / 1 000 000 Portugal AND has_point_prevalence_range : <1 / 1 000 000 Spain AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 95.0 AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3386 American trypanosomiasis ORPHA:3386 ICD-10:B57.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B57.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B57.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B57.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B57.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B57.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F53 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F53.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F53.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F53.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014355 E (Exact mapping: the two concepts are equivalent) MedDRA:10001935 E (Exact mapping: the two concepts are equivalent) UMLS:C0041234 E (Exact mapping: the two concepts are equivalent) Hairy throat syndrome Tsukahara-Kajii syndrome A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. Orphanet ICD-10:L68.2 MeSH:C538390 OMIM:600457 UMLS:C1838123 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3387 Isolated anterior cervical hypertrichosis ORPHA:3387 ICD-10:L68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538390 E (Exact mapping: the two concepts are equivalent) OMIM:600457 E (Exact mapping: the two concepts are equivalent) UMLS:C1838123 E (Exact mapping: the two concepts are equivalent) MeSH:D009436 MedDRA:10052046 UMLS:C0027794 Austria AND has_birth_prevalence_average_value : 76.8 AND has_birth_prevalence_range : 6-9 / 10 000 Belgium AND has_birth_prevalence_average_value : 88.75 AND has_birth_prevalence_range : 6-9 / 10 000 Brazil AND has_birth_prevalence_average_value : 31.0 AND has_birth_prevalence_range : 1-5 / 10 000 China AND has_birth_prevalence_average_value : 1387.0 AND has_birth_prevalence_range : >1 / 1000 Croatia AND has_birth_prevalence_average_value : 47.9 AND has_birth_prevalence_range : 1-5 / 10 000 Czech Republic AND has_birth_prevalence_average_value : 74.7 AND has_birth_prevalence_range : 6-9 / 10 000 Denmark AND has_birth_prevalence_average_value : 109.6 AND has_birth_prevalence_range : >1 / 1000 Europe AND has_birth_prevalence_average_value : 91.05 AND has_birth_prevalence_range : 6-9 / 10 000 Finland AND has_birth_prevalence_average_value : 86.7 AND has_birth_prevalence_range : 6-9 / 10 000 France AND has_birth_prevalence_average_value : 120.2 AND has_birth_prevalence_range : >1 / 1000 Germany AND has_birth_prevalence_average_value : 138.25 AND has_birth_prevalence_range : >1 / 1000 Hungary AND has_birth_prevalence_average_value : 67.2 AND has_birth_prevalence_range : 6-9 / 10 000 Ireland AND has_birth_prevalence_average_value : 87.4 AND has_birth_prevalence_range : 6-9 / 10 000 Italy AND has_birth_prevalence_average_value : 54.65 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 109.5 AND has_birth_prevalence_range : >1 / 1000 Netherlands AND has_birth_prevalence_average_value : 84.2 AND has_birth_prevalence_range : 6-9 / 10 000 Norway AND has_birth_prevalence_average_value : 92.7 AND has_birth_prevalence_range : 6-9 / 10 000 Poland AND has_birth_prevalence_average_value : 92.5 AND has_birth_prevalence_range : 6-9 / 10 000 Portugal AND has_birth_prevalence_average_value : 47.3 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 98.5 AND has_birth_prevalence_range : 6-9 / 10 000 Switzerland AND has_birth_prevalence_average_value : 101.7 AND has_birth_prevalence_range : >1 / 1000 United Kingdom AND has_birth_prevalence_average_value : 115.5 AND has_birth_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 55.0 AND has_birth_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3388 Neural tube defect Category ORPHA:3388 MeSH:D009436 E (Exact mapping: the two concepts are equivalent) MedDRA:10052046 E (Exact mapping: the two concepts are equivalent) UMLS:C0027794 E (Exact mapping: the two concepts are equivalent) Tuberculosis (TB) is a contagious-infectious disease caused mainly by <i>Mycobacterium tuberculosis</i> that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency. Orphanet ICD-10:A15 ICD-10:A16 MeSH:D014376 MedDRA:10044755 OMIM:607948 UMLS:C0041296 Not applicable All ages Algeria AND has_annual_incidence_average_value : 90.0 AND has_annual_incidence_range : 6-9 / 10 000 Australia AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000 Austria AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 8.0 AND has_annual_incidence_range : 1-9 / 100 000 Bosnia and Herzegovina AND has_annual_incidence_average_value : 49.0 AND has_annual_incidence_range : 1-5 / 10 000 China AND has_annual_incidence_average_value : 75.0 AND has_annual_incidence_range : 6-9 / 10 000 Croatia AND has_annual_incidence_average_value : 17.0 AND has_annual_incidence_range : 1-5 / 10 000 Czech Republic AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 7.1 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 9.0 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 8.0 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Hungary AND has_annual_incidence_average_value : 18.0 AND has_annual_incidence_range : 1-5 / 10 000 Iceland AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 India AND has_annual_incidence_average_value : 181.0 AND has_annual_incidence_range : >1 / 1000 Ireland AND has_annual_incidence_average_value : 10.7 AND has_annual_incidence_range : 1-5 / 10 000 Israel AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 20.0 AND has_annual_incidence_range : 1-5 / 10 000 Latin America AND has_annual_incidence_average_value : 47.0 AND has_annual_incidence_range : 1-5 / 10 000 Latvia AND has_annual_incidence_average_value : 42.0 AND has_annual_incidence_range : 1-5 / 10 000 Lithuania AND has_annual_incidence_average_value : 59.0 AND has_annual_incidence_range : 1-5 / 10 000 Netherlands AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 23.0 AND has_annual_incidence_range : 1-5 / 10 000 Portugal AND has_annual_incidence_average_value : 24.0 AND has_annual_incidence_range : 1-5 / 10 000 Romania AND has_annual_incidence_average_value : 101.0 AND has_annual_incidence_range : >1 / 1000 Russian Federation AND has_annual_incidence_average_value : 97.0 AND has_annual_incidence_range : 6-9 / 10 000 South Africa AND has_annual_incidence_average_value : 993.0 AND has_annual_incidence_range : >1 / 1000 Spain AND has_annual_incidence_average_value : 15.0 AND has_annual_incidence_range : 1-5 / 10 000 Sweden AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000 Turkey AND has_annual_incidence_average_value : 24.0 AND has_annual_incidence_range : 1-5 / 10 000 Ukraine AND has_annual_incidence_average_value : 89.0 AND has_annual_incidence_range : 6-9 / 10 000 United Kingdom AND has_annual_incidence_average_value : 14.0 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 3.4 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 139.0 AND has_annual_incidence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3389 Tuberculosis Clinical group ORPHA:3389 ICD-10:A15 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:A16 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D014376 E (Exact mapping: the two concepts are equivalent) MedDRA:10044755 E (Exact mapping: the two concepts are equivalent) OMIM:607948 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0041296 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kearns-Sayre syndrome OMIM:560000 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome ORPHA:3390 OMIM:560000 E (Exact mapping: the two concepts are equivalent) Ectodermal dysplasia-adrenal cyst syndrome Tuffli-Laxova syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Scalp-ear-nipple syndrome OMIM:129550 UMLS:C1851850 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome ORPHA:3391 OMIM:129550 E (Exact mapping: the two concepts are equivalent) UMLS:C1851850 E (Exact mapping: the two concepts are equivalent) A rare bacterial infectious disease caused by <i>Francisella tularensis</i> and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms. Orphanet ICD-10:A21.0 ICD-10:A21.1 ICD-10:A21.2 ICD-10:A21.3 ICD-10:A21.7 ICD-10:A21.8 ICD-10:A21.9 ICD-11:1B94 ICD-11:1B94.0 ICD-11:1B94.Y MeSH:D014406 MedDRA:10045146 UMLS:C0041351 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 1.27 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 9.1 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.145 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 1.83 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.75 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3392 Tularemia ORPHA:3392 ICD-10:A21.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A21.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A21.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A21.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A21.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A21.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A21.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B94 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B94.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B94.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014406 E (Exact mapping: the two concepts are equivalent) MedDRA:10045146 E (Exact mapping: the two concepts are equivalent) UMLS:C0041351 E (Exact mapping: the two concepts are equivalent) Malignant mesenchymal tumor Malignant soft tissue tumor Soft part sarcoma MedDRA:10075333 Europe AND has_annual_incidence_average_value : 4.74 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 3.6 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3394 Soft tissue sarcoma Clinical group ORPHA:3394 MedDRA:10075333 E (Exact mapping: the two concepts are equivalent) TEN Thymic epithelial tumor Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms). Orphanet MeSH:C536905 UMLS:C1266101 Autosomal recessive Not applicable Adult Europe AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown United States AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3398 Thymic epithelial neoplasm Category ORPHA:3398 MeSH:C536905 E (Exact mapping: the two concepts are equivalent) UMLS:C1266101 E (Exact mapping: the two concepts are equivalent) MedDRA:10061184 UMLS:C0740345 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3399 Germ cell tumor Category ORPHA:3399 MedDRA:10061184 E (Exact mapping: the two concepts are equivalent) UMLS:C0740345 E (Exact mapping: the two concepts are equivalent) Hyperpipecolatemia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Peroxisome biogenesis disorder UMLS:C0282526 Pipecolic acidemia ORPHA:34 UMLS:C0282526 E (Exact mapping: the two concepts are equivalent) Hantavirosis Hantavirus fever A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. Orphanet ICD-10:A98.5+ ICD-10:N08.0* ICD-11:1D62.0 MeSH:C535630 MedDRA:10023484 UMLS:C2930957 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.92 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.78 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 1.36 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 37.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 29.16 AND has_annual_incidence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 1.16 AND has_annual_incidence_range : 1-9 / 100 000 Hungary AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 1.44 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 2.32 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 2.52 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=340 Hemorrhagic fever-renal syndrome ORPHA:340 ICD-10:A98.5+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N08.0* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D62.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535630 E (Exact mapping: the two concepts are equivalent) MedDRA:10023484 E (Exact mapping: the two concepts are equivalent) UMLS:C2930957 E (Exact mapping: the two concepts are equivalent) A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. Orphanet ICD-10:Q20.8 ICD-11:LA8A.Y MeSH:D000082903 UMLS:C4023262 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 130.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3400 Aorto-ventricular tunnel ORPHA:3400 ICD-10:Q20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000082903 E (Exact mapping: the two concepts are equivalent) UMLS:C4023262 E (Exact mapping: the two concepts are equivalent) Transient tyrosinemia of the neonate A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants. Orphanet ICD-10:P74.5 ICD-11:5C50.1Y UMLS:C0268485 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3402 Transient tyrosinemia of the newborn ORPHA:3402 ICD-10:P74.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C50.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0268485 E (Exact mapping: the two concepts are equivalent) Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation. Orphanet ICD-10:Q24.8 ICD-11:LA88.Y MeSH:C536932 MedDRA:10048951 OMIM:107970 UMLS:C0265857 Not applicable Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 84.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3403 Uhl anomaly ORPHA:3403 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536932 E (Exact mapping: the two concepts are equivalent) MedDRA:10048951 E (Exact mapping: the two concepts are equivalent) OMIM:107970 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0265857 E (Exact mapping: the two concepts are equivalent) Renal dysplasia-limb defects syndrome Renal dysplasia-mesomelia-radiohumeral fusion syndrome Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Orphanet ICD-10:Q87.8 MeSH:C537754 OMIM:266910 UMLS:C1849438 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3404 Ulbright-Hodes syndrome ORPHA:3404 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537754 E (Exact mapping: the two concepts are equivalent) OMIM:266910 E (Exact mapping: the two concepts are equivalent) UMLS:C1849438 E (Exact mapping: the two concepts are equivalent) A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia. Orphanet ICD-10:Q43.8 ICD-11:LD2F.1Y MeSH:C536938 UMLS:C4304396 Unknown Antenatal Worldwide AND has_cases/families_value : 66.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3405 Umbilical cord ulceration-intestinal atresia syndrome ORPHA:3405 ICD-10:Q43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536938 E (Exact mapping: the two concepts are equivalent) UMLS:C4304396 E (Exact mapping: the two concepts are equivalent) Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection. Orphanet ICD-10:L73.8 ICD-11:ED56 MeSH:C537412 OMIM:604093 Autosomal dominant Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3406 Ulerythema ophryogenesis ORPHA:3406 ICD-10:L73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537412 E (Exact mapping: the two concepts are equivalent) OMIM:604093 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Hip dysplasia-enchondromata-ecchondroma syndrome A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. Orphanet ICD-10:M91.8 ICD-11:LD24.2Y MeSH:C536472 OMIM:191520 UMLS:C1860596 Autosomal dominant No data available Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3408 Upington disease ORPHA:3408 ICD-10:M91.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536472 E (Exact mapping: the two concepts are equivalent) OMIM:191520 E (Exact mapping: the two concepts are equivalent) UMLS:C1860596 E (Exact mapping: the two concepts are equivalent) Intellectual disability-short stature-hand contractures-genital anomalies syndrome Prader-Willi habitus-osteopenia-camptodactyly syndrome A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Orphanet ICD-10:Q87.8 MeSH:C538276 OMIM:264010 UMLS:C0796189 Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3409 Urban-Rogers-Meyer syndrome ORPHA:3409 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538276 E (Exact mapping: the two concepts are equivalent) OMIM:264010 E (Exact mapping: the two concepts are equivalent) UMLS:C0796189 E (Exact mapping: the two concepts are equivalent) A rare group of infectious disease characterized by malaise, fever, exhaustion, vascular permeability, decreased plasma volume, coagulation abnormalities and varying degrees of hemorrhage. Severity of hemorrage is affected by a variety of contributing factors (depending on the pathogen and the host, whether it is primary infection or reinfection) and severly ill patients often show signs of bleeding under skin, in internal organs and in orifices. They may develop circulatory collapse, multisystem organ failure, shock, nervous system malfunction, coma, delirium, and seizures. A variety of rashes and ocular manifestations can also be associated with the diseases. They are caused by several different families of RNA viruses, including members of arenaviruses, bunyaviruses, filoviruses and flaviviruses that are capable of causing high morbidity and mortality. Orphanet MeSH:D006482 UMLS:C0019104 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=341 Viral hemorrhagic fever Category ORPHA:341 MeSH:D006482 E (Exact mapping: the two concepts are equivalent) UMLS:C0019104 E (Exact mapping: the two concepts are equivalent) Double uterus and obstructed hemivagina syndrome HWW syndrome Herlyn-Werner-Wunderlich syndrome OHVIRA syndrome Obstructed hemivagina and ipsilateral renal anomaly A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. Orphanet ICD-10:Q51.2 ICD-11:LD2F.1Y MedDRA:10083351 OMIM:192050 UMLS:C4302552 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3411 Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411 ICD-10:Q51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10083351 E (Exact mapping: the two concepts are equivalent) OMIM:192050 E (Exact mapping: the two concepts are equivalent) UMLS:C4302552 E (Exact mapping: the two concepts are equivalent) Sujansky-Leonard syndrome A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:276950 OMIM:314390 UMLS:C4305002 Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3412 VACTERL with hydrocephalus ORPHA:3412 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:276950 E (Exact mapping: the two concepts are equivalent) OMIM:314390 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4305002 E (Exact mapping: the two concepts are equivalent) Berger disease IgA nephropathy A rare glomerular disease, histologically characterized by glomerular mesangial deposits of IgA, often accompanied by IgG and complement C3 as well as mesangioproliferative changes, clinically mostly manifesting as oligosymptomatic glomerulonephritis, possibly infection-triggered macrohematuria and a variable course ranging from spontaneous remission to slow or rarely rapid progression to kidney failure. Orphanet ICD-10:N02 ICD-11:MF8Y MedDRA:10021263 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34145 Immunoglobulin A nephropathy ORPHA:34145 ICD-10:N02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:MF8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10021263 E (Exact mapping: the two concepts are equivalent) ADTKD Familial juvenile hyperuricemic nephropathy MCKD Medullary cystic kidney disease A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD). Orphanet ICD-10:Q61.5 ICD-11:GB82 OMIM:137920 OMIM:162000 OMIM:174000 UMLS:C4511620 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34149 Autosomal dominant tubulointerstitial kidney disease ORPHA:34149 ICD-10:Q61.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GB82 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:137920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:162000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:174000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4511620 E (Exact mapping: the two concepts are equivalent) Hyperphosphatasemia tarda Van Buchem disease Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. Orphanet ICD-10:M85.2 ICD-11:LD24.1Y OMIM:144750 OMIM:239100 UMLS:C0432272 Autosomal dominant Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3416 Hyperostosis corticalis generalisata ORPHA:3416 ICD-10:M85.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:144750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:239100 E (Exact mapping: the two concepts are equivalent) UMLS:C0432272 E (Exact mapping: the two concepts are equivalent) A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Orphanet ICD-10:Q87.8 MeSH:C563129 OMIM:314500 UMLS:C0796192 X-linked recessive No data available Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3417 Van den Bosch syndrome ORPHA:3417 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563129 E (Exact mapping: the two concepts are equivalent) OMIM:314500 E (Exact mapping: the two concepts are equivalent) UMLS:C0796192 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Lethal multiple congenital anomalies/dysmorphic syndrome OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome ORPHA:3419 Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. Orphanet ICD-10:E85.0 ICD-11:4A60.0 MeSH:D010505 MedDRA:10016207 OMIM:134610 OMIM:249100 UMLS:C0031069 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Infancy Armenia AND has_point_prevalence_average_value : 200.0 AND has_point_prevalence_range : >1 / 1000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_annual_incidence_average_value : 14.0 AND has_annual_incidence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 175.0 AND has_point_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=342 Familial Mediterranean fever ORPHA:342 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010505 E (Exact mapping: the two concepts are equivalent) MedDRA:10016207 E (Exact mapping: the two concepts are equivalent) OMIM:134610 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:249100 E (Exact mapping: the two concepts are equivalent) UMLS:C0031069 E (Exact mapping: the two concepts are equivalent) CRV Grand-Kaine-Fulling syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Cerebroretinal vasculopathy ORPHA:3421 KWWH type I Keratoderma with woolly hair type I Keratosis palmoplantaris with arrythmogenic cardiomyopathy Naxos syndrome Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy Palmoplantar keratoderma with arrythmogenic cardiomyopathy A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma. Orphanet ICD-10:Q87.8 ICD-11:BC43.6 MeSH:C538346 OMIM:601214 UMLS:C1832600 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34217 Naxos disease ORPHA:34217 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538346 E (Exact mapping: the two concepts are equivalent) OMIM:601214 E (Exact mapping: the two concepts are equivalent) UMLS:C1832600 E (Exact mapping: the two concepts are equivalent) Hypogonadism-gynecomastia-X-linked intellectual disability syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xq27.3q28 duplication syndrome MeSH:C536533 UMLS:C2931231 Vasquez-Hurst-Sotos syndrome ORPHA:3423 MeSH:C536533 E (Exact mapping: the two concepts are equivalent) UMLS:C2931231 E (Exact mapping: the two concepts are equivalent) A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. Orphanet ICD-10:Q87.0 MeSH:C536536 OMIM:600736 UMLS:C1833380 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3424 Velo-facial-skeletal syndrome ORPHA:3424 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536536 E (Exact mapping: the two concepts are equivalent) OMIM:600736 E (Exact mapping: the two concepts are equivalent) UMLS:C1833380 E (Exact mapping: the two concepts are equivalent) DORV A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. Orphanet ICD-10:Q20.1 ICD-11:LA85.2 MeSH:D004310 MedDRA:10013611 OMIM:217095 UMLS:C0013069 Multigenic/multifactorial Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3426 Double outlet right ventricle ORPHA:3426 ICD-10:Q20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA85.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004310 E (Exact mapping: the two concepts are equivalent) MedDRA:10013611 E (Exact mapping: the two concepts are equivalent) OMIM:217095 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0013069 E (Exact mapping: the two concepts are equivalent) DOLV Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle. Orphanet ICD-10:Q20.2 ICD-11:LA85.3 MedDRA:10080133 UMLS:C0265809 Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3427 Double outlet left ventricle ORPHA:3427 ICD-10:Q20.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA85.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10080133 E (Exact mapping: the two concepts are equivalent) UMLS:C0265809 E (Exact mapping: the two concepts are equivalent) Cleft lip-limb and heart malformations syndrome Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:Q87.8 MeSH:C536541 OMIM:215850 UMLS:C1859082 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3429 Verloove Vanhorick-Brubakk syndrome ORPHA:3429 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536541 E (Exact mapping: the two concepts are equivalent) OMIM:215850 E (Exact mapping: the two concepts are equivalent) UMLS:C1859082 E (Exact mapping: the two concepts are equivalent) HIDS Hyper-IgD syndrome Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulinemia D syndrome Partial mevalonate kinase deficiency A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations. Orphanet ICD-10:E85.0 ICD-11:4A60.Y OMIM:260920 UMLS:C0398691 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=343 Hyperimmunoglobulinemia D with periodic fever Clinical subtype ORPHA:343 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:260920 E (Exact mapping: the two concepts are equivalent) UMLS:C0398691 E (Exact mapping: the two concepts are equivalent) Viljoen-Kallis-Voges syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Orphanet ICD-10:Q87.8 MeSH:C536349 UMLS:C2931177 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536349 E (Exact mapping: the two concepts are equivalent) UMLS:C2931177 E (Exact mapping: the two concepts are equivalent) MCOPS8 Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome Syndromic microphthalmia type 8 Viljoen-Smart syndrome The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (<i>SNX3</i>; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Orphanet ICD-10:Q87.8 ICD-11:LD21.0 MeSH:C537686 OMIM:601349 UMLS:C1832440 Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3434 MMEP syndrome ORPHA:3434 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537686 E (Exact mapping: the two concepts are equivalent) OMIM:601349 E (Exact mapping: the two concepts are equivalent) UMLS:C1832440 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:L80 NON RARE IN EUROPE: Vitiligo ORPHA:3435 ICD-10:L80 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Uveomenigitic syndrome Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. Orphanet ICD-10:H20.8 ICD-10:H30.8 ICD-11:9A96.1 MeSH:D014607 MedDRA:10082001 UMLS:C0042170 Multigenic/multifactorial All ages United States AND has_annual_incidence_average_value : 3.75 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3437 Vogt-Koyanagi-Harada disease ORPHA:3437 ICD-10:H20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A96.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014607 E (Exact mapping: the two concepts are equivalent) MedDRA:10082001 E (Exact mapping: the two concepts are equivalent) UMLS:C0042170 E (Exact mapping: the two concepts are equivalent) Cholestatic jaundice-renal tubular insufficiency syndrome Lutz-Richner-Landolt syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Arthrogryposis-renal dysfunction-cholestasis syndrome UMLS:C0400972 Biliary tract malformation-renal failure syndrome ORPHA:3438 UMLS:C0400972 E (Exact mapping: the two concepts are equivalent) DK phocomelia syndrome Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Orphanet ICD-10:Q87.8 MeSH:C565618 OMIM:223340 UMLS:C1857226 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3439 Von Voss-Cherstvoy syndrome ORPHA:3439 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565618 E (Exact mapping: the two concepts are equivalent) OMIM:223340 E (Exact mapping: the two concepts are equivalent) UMLS:C1857226 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare viral disease OBSOLETE: Arbovirus fever ORPHA:344 A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS). Orphanet ICD-10:E70.3 ICD-11:EC23.2Y MeSH:D014849 MedDRA:10069203 OMIM:148820 OMIM:193500 OMIM:193510 OMIM:600193 OMIM:606662 OMIM:611584 UMLS:C3266898 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.37 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.74 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3440 Waardenburg syndrome ORPHA:3440 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014849 E (Exact mapping: the two concepts are equivalent) MedDRA:10069203 E (Exact mapping: the two concepts are equivalent) OMIM:148820 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:193500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:193510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600193 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606662 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611584 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3266898 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: HAIR-AN syndrome ORPHA:34412 Pulmonic stenosis with 'café-au-lait' spots This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurofibromatosis type 1 OMIM:193520 UMLS:C0553586 Watson syndrome ORPHA:3444 OMIM:193520 E (Exact mapping: the two concepts are equivalent) UMLS:C0553586 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PRC-2 complex-related overgrowth spectrum UMLS:C0220765 Weaver-like syndrome ORPHA:3446 UMLS:C0220765 E (Exact mapping: the two concepts are equivalent) EZH2-related overgrowth syndrome Syndrome d'hypercroissance associé à EZH2 Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C536687 MedDRA:10083271 OMIM:277590 UMLS:C0265210 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 48.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3447 Weaver syndrome ORPHA:3447 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536687 E (Exact mapping: the two concepts are equivalent) MedDRA:10083271 E (Exact mapping: the two concepts are equivalent) OMIM:277590 E (Exact mapping: the two concepts are equivalent) UMLS:C0265210 E (Exact mapping: the two concepts are equivalent) Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. Orphanet ICD-10:Q87.8 UMLS:C0796198 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3448 Weaver-Williams syndrome ORPHA:3448 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0796198 E (Exact mapping: the two concepts are equivalent) Spherophakia-brachymorphia syndrome Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. Orphanet ICD-10:Q87.0 ICD-11:9C61.42 MeSH:D056846 MedDRA:10064963 OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 UMLS:C0265313 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3449 Weill-Marchesani syndrome ORPHA:3449 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9C61.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056846 E (Exact mapping: the two concepts are equivalent) MedDRA:10064963 E (Exact mapping: the two concepts are equivalent) OMIM:277600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608328 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613195 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614819 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265313 E (Exact mapping: the two concepts are equivalent) Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia. Orphanet ICD-10:L66.3 ICD-11:ED70.51 MeSH:C562486 MedDRA:10056961 OMIM:260910 UMLS:C0263506 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=345 Dissecting cellulitis of the scalp ORPHA:345 ICD-10:L66.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:ED70.51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562486 E (Exact mapping: the two concepts are equivalent) MedDRA:10056961 E (Exact mapping: the two concepts are equivalent) OMIM:260910 E (Exact mapping: the two concepts are equivalent) UMLS:C0263506 E (Exact mapping: the two concepts are equivalent) Pierre Robin sequence-fetal chondrodysplasia syndrome Pierre Robin syndrome-fetal chondrodysplasia syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant otospondylomegaepiphyseal dysplasia UMLS:C1848488 Weissenbacher-Zweymuller syndrome ORPHA:3450 UMLS:C1848488 E (Exact mapping: the two concepts are equivalent) IESS West syndrome A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome. Orphanet ICD-10:G40.4 ICD-11:8A62.0 MeSH:D013036 MedDRA:10021750 OMIM:300672 OMIM:308350 OMIM:613477 OMIM:613722 OMIM:615006 OMIM:616139 OMIM:616341 OMIM:617065 OMIM:617929 OMIM:618298 UMLS:C0037769 Autosomal dominant Autosomal recessive X-linked recessive Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Iceland AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 3.25 AND has_birth_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 Singapore AND has_birth_prevalence_average_value : 31.0 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3451 Infantile epileptic spasms syndrome ORPHA:3451 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8A62.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013036 E (Exact mapping: the two concepts are equivalent) MedDRA:10021750 E (Exact mapping: the two concepts are equivalent) OMIM:300672 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613477 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613722 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615006 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616139 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616341 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617065 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617929 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618298 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0037769 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2G LGMD due to telethonin deficiency LGMD type 2G LGMD2G Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy type 2G Telethonin-related LGMD R7 A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C566599 OMIM:601954 UMLS:C1866008 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34514 Telethonin-related limb-girdle muscular dystrophy R7 ORPHA:34514 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566599 E (Exact mapping: the two concepts are equivalent) OMIM:601954 E (Exact mapping: the two concepts are equivalent) UMLS:C1866008 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2I FKRP-related LGMD R9 LGMD due to FKRP deficiency LGMD type 2I LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy type 2I A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C564612 OMIM:607155 UMLS:C1846672 Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.43 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34515 FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564612 E (Exact mapping: the two concepts are equivalent) OMIM:607155 E (Exact mapping: the two concepts are equivalent) UMLS:C1846672 E (Exact mapping: the two concepts are equivalent) Autosomal dominant limb-girdle muscular dystrophy type 1D DNAJB6-related LGMD D1 LGMD type 1D LGMD1D Limb-girdle muscular dystrophy type 1D A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. Orphanet ICD-10:G71.0 MeSH:C566370 OMIM:603511 UMLS:C3501858 Autosomal dominant Adult Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34516 DNAJB6-related limb-girdle muscular dystrophy D1 ORPHA:34516 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566370 E (Exact mapping: the two concepts are equivalent) OMIM:603511 E (Exact mapping: the two concepts are equivalent) UMLS:C3501858 E (Exact mapping: the two concepts are equivalent) LGMD1E This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy UMLS:C3148763 Autosomal dominant limb-girdle muscular dystrophy type 1E ORPHA:34517 UMLS:C3148763 E (Exact mapping: the two concepts are equivalent) Intestinal lipodystrophy A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (<i>TW</i>). Orphanet ICD-10:K90.8+ ICD-10:M14.8* ICD-11:DA96.0Y MeSH:D008061 MedDRA:10047931 UMLS:C0023788 Not applicable No data available Europe AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3452 Whipple disease ORPHA:3452 ICD-10:K90.8+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:M14.8* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DA96.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008061 E (Exact mapping: the two concepts are equivalent) MedDRA:10047931 E (Exact mapping: the two concepts are equivalent) UMLS:C0023788 E (Exact mapping: the two concepts are equivalent) Congenital muscular dystrophy with ITGA7 deficiency Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. Orphanet ICD-10:G71.2 ICD-11:8C70.6 MeSH:C567709 OMIM:613204 UMLS:C2750786 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34520 Congenital muscular dystrophy with integrin alpha-7 deficiency ORPHA:34520 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567709 E (Exact mapping: the two concepts are equivalent) OMIM:613204 E (Exact mapping: the two concepts are equivalent) UMLS:C2750786 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary myopathy with early respiratory failure Distal myopathy with early respiratory muscle involvement ORPHA:34521 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare renal tubular disease OBSOLETE: Genetic primary hypomagnesemia ORPHA:34526 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare renal tubular disease OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia ORPHA:34527 HOMG2 Isolated autosomal dominant hypomagnesemia Isolated renal magnesium wasting Renal hypomagnesemia type 2 A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Orphanet ICD-10:E83.4 ICD-11:5C64.41 MeSH:C537152 OMIM:154020 UMLS:C1835171 Autosomal dominant All ages Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34528 Autosomal dominant primary hypomagnesemia with hypocalciuria ORPHA:34528 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537152 E (Exact mapping: the two concepts are equivalent) OMIM:154020 E (Exact mapping: the two concepts are equivalent) UMLS:C1835171 E (Exact mapping: the two concepts are equivalent) APECED syndrome APS type 1 APS1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome MEDAC syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. Orphanet ICD-10:E31.0 ICD-11:5B00 MeSH:C538275 OMIM:240300 UMLS:C0085859 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3453 Autoimmune polyendocrinopathy type 1 ORPHA:3453 ICD-10:E31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5B00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538275 E (Exact mapping: the two concepts are equivalent) OMIM:240300 E (Exact mapping: the two concepts are equivalent) UMLS:C0085859 E (Exact mapping: the two concepts are equivalent) A heterogeneous group of bilateral, genetically determined, non-inflammatory eye diseases that are usually restricted to the cornea. The designation is imprecise but remains in use because of its clinical value. Orphanet ICD-10:H18.5 ICD-11:9A70 MeSH:D003317 MedDRA:10011005 UMLS:C0010036 Autosomal dominant Autosomal recessive Mitochondrial inheritance Not applicable X-linked recessive All ages United States AND has_point_prevalence_average_value : 110.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34533 Corneal dystrophy Category ORPHA:34533 ICD-10:H18.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9A70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003317 E (Exact mapping: the two concepts are equivalent) MedDRA:10011005 E (Exact mapping: the two concepts are equivalent) UMLS:C0010036 E (Exact mapping: the two concepts are equivalent) Foot contractures-muscle atrophy-oculomotor apraxia syndrome Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability. Orphanet ICD-10:Q87.7 MeSH:C536703 OMIM:314580 UMLS:C0796200 Not applicable X-linked recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3454 Wieacker-Wolff syndrome ORPHA:3454 ICD-10:Q87.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536703 E (Exact mapping: the two concepts are equivalent) OMIM:314580 E (Exact mapping: the two concepts are equivalent) UMLS:C0796200 E (Exact mapping: the two concepts are equivalent) Neonatal progeroid syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common. Orphanet ICD-10:E34.8 ICD-11:LD2B MeSH:C536423 OMIM:264090 UMLS:C0406586 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3455 Wiedemann-Rautenstrauch syndrome ORPHA:3455 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536423 E (Exact mapping: the two concepts are equivalent) OMIM:264090 E (Exact mapping: the two concepts are equivalent) UMLS:C0406586 E (Exact mapping: the two concepts are equivalent) Cervicooculoacoustic syndrome Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness. Orphanet ICD-10:Q87.8 MedDRA:10069402 OMIM:314600 UMLS:C0265239 Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3456 Wildervanck syndrome ORPHA:3456 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10069402 E (Exact mapping: the two concepts are equivalent) OMIM:314600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265239 E (Exact mapping: the two concepts are equivalent) GSD due to LAMP-2 deficiency GSD, type 2B GSD, type IIb Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease, type 2B Glycogen storage disease, type IIb Glycogenosis due to LAMP-2 deficiency Lysosomal glycogen storage disease with normal acid maltase activity A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males). Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:300257 UMLS:C0878677 X-linked dominant Childhood Sweden AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 84.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34587 Danon disease ORPHA:34587 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300257 E (Exact mapping: the two concepts are equivalent) UMLS:C0878677 E (Exact mapping: the two concepts are equivalent) WTS X-linked intellectual disability-gynecomastia-obesity syndrome Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. Orphanet ICD-10:Q87.8 ICD-11:LD29 MeSH:C536708 OMIM:309585 UMLS:C1839736 X-linked dominant X-linked recessive Childhood Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3459 Wilson-Turner syndrome ORPHA:3459 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD29 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536708 E (Exact mapping: the two concepts are equivalent) OMIM:309585 E (Exact mapping: the two concepts are equivalent) UMLS:C1839736 E (Exact mapping: the two concepts are equivalent) Bare lymphocyte syndrome type 1 MHC class I deficiency A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported. Orphanet ICD-10:D81.6 ICD-11:4A01.11 MeSH:C565759 OMIM:241600 OMIM:604571 UMLS:C1858266 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=34592 Immunodeficiency by defective expression of MHC class I ORPHA:34592 ICD-10:D81.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C565759 E (Exact mapping: the two concepts are equivalent) OMIM:241600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604571 E (Exact mapping: the two concepts are equivalent) UMLS:C1858266 E (Exact mapping: the two concepts are equivalent) A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts. Orphanet ICD-10:L66.2 ICD-11:ED70.50 MedDRA:10063921 UMLS:C5681224 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=346 Quinquaud folliculitis decalvans ORPHA:346 ICD-10:L66.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:ED70.50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10063921 E (Exact mapping: the two concepts are equivalent) UMLS:C5681224 E (Exact mapping: the two concepts are equivalent) Winchester syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multicentric osteolysis-nodulosis-arthropathy spectrum MedDRA:10078901 UMLS:C1850155 Torg-Winchester syndrome ORPHA:3460 MedDRA:10078901 E (Exact mapping: the two concepts are equivalent) UMLS:C1850155 E (Exact mapping: the two concepts are equivalent) Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome DIDMOAD syndrome Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Orphanet ICD-10:E34.8 ICD-11:5A61.5 MeSH:D014929 MedDRA:10078338 OMIM:222300 OMIM:598500 OMIM:604928 UMLS:C0043207 Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.62 AND has_point_prevalence_range : 1-9 / 1 000 000 India AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 1.83 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3463 Wolfram syndrome ORPHA:3463 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014929 E (Exact mapping: the two concepts are equivalent) MedDRA:10078338 E (Exact mapping: the two concepts are equivalent) OMIM:222300 E (Exact mapping: the two concepts are equivalent) OMIM:598500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604928 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0043207 E (Exact mapping: the two concepts are equivalent) Diabetes-hypogonadism-deafness-intellectual disability syndrome Diabetes-hypogonadism-hearing loss-intellectual disability syndrome Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Orphanet ICD-10:Q87.5 ICD-11:5A61.0 MeSH:C536742 MedDRA:10082379 OMIM:241080 UMLS:C0342286 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 25.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3464 Woodhouse-Sakati syndrome ORPHA:3464 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536742 E (Exact mapping: the two concepts are equivalent) MedDRA:10082379 E (Exact mapping: the two concepts are equivalent) OMIM:241080 E (Exact mapping: the two concepts are equivalent) UMLS:C0342286 E (Exact mapping: the two concepts are equivalent) Congenital suprabulbar paresis Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Orphanet ICD-10:G80.8 ICD-11:8D23 MeSH:C536747 OMIM:185480 UMLS:C0796204 Autosomal dominant Not applicable Childhood Europe AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3465 Worster-Drought syndrome ORPHA:3465 ICD-10:G80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D23 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536747 E (Exact mapping: the two concepts are equivalent) OMIM:185480 E (Exact mapping: the two concepts are equivalent) UMLS:C0796204 E (Exact mapping: the two concepts are equivalent) A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:D61.0 ICD-11:3A70.0 MeSH:C536751 OMIM:194350 UMLS:C1327917 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3466 WT limb-blood syndrome ORPHA:3466 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536751 E (Exact mapping: the two concepts are equivalent) OMIM:194350 E (Exact mapping: the two concepts are equivalent) UMLS:C1327917 E (Exact mapping: the two concepts are equivalent) Classic xanthinuria Xanthic urolithiasis Xanthine stone disease A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. Orphanet ICD-10:E79.8 ICD-11:5C55.00 OMIM:278300 OMIM:603592 Autosomal recessive All ages Europe AND has_annual_incidence_average_value : 9.05 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3467 Hereditary xanthinuria ORPHA:3467 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C55.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:278300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603592 BTNT (ORPHAcode is broader than the targeted code used to represent it) Garcia-Lurie syndrome XK syndrome XK-aprosencephaly A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. Orphanet ICD-10:Q04.3 ICD-11:LD20.3 MeSH:C536767 OMIM:207770 UMLS:C0795952 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3469 XK aprosencephaly syndrome ORPHA:3469 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536767 E (Exact mapping: the two concepts are equivalent) OMIM:207770 E (Exact mapping: the two concepts are equivalent) UMLS:C0795952 E (Exact mapping: the two concepts are equivalent) A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Orphanet ICD-10:N04.1 ICD-11:LD2A.Y MeSH:D052159 MedDRA:10080313 OMIM:136680 UMLS:C0950122 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=347 Frasier syndrome ORPHA:347 ICD-10:N04.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D052159 E (Exact mapping: the two concepts are equivalent) MedDRA:10080313 E (Exact mapping: the two concepts are equivalent) OMIM:136680 E (Exact mapping: the two concepts are equivalent) UMLS:C0950122 E (Exact mapping: the two concepts are equivalent) Azoospermia-sinopulmonary infections syndrome Sinusitis-infertility syndrome A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause. Orphanet ICD-10:N46 ICD-11:CB40.1 MeSH:C536718 MedDRA:10063689 OMIM:279000 UMLS:C0340037 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3471 Young syndrome ORPHA:3471 ICD-10:N46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536718 E (Exact mapping: the two concepts are equivalent) MedDRA:10063689 E (Exact mapping: the two concepts are equivalent) OMIM:279000 E (Exact mapping: the two concepts are equivalent) UMLS:C0340037 E (Exact mapping: the two concepts are equivalent) Cleidocranial dysplasia-micrognathia-absent thumbs syndrome A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties. Orphanet ICD-10:Q87.8 ICD-11:LD24.23 MeSH:C536719 OMIM:216340 UMLS:C1857663 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3472 Yunis-Varon syndrome ORPHA:3472 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.23 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536719 E (Exact mapping: the two concepts are equivalent) OMIM:216340 E (Exact mapping: the two concepts are equivalent) UMLS:C1857663 E (Exact mapping: the two concepts are equivalent) Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome Laband syndrome A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536725 MedDRA:10081859 OMIM:135500 OMIM:616455 OMIM:618658 OMIM:618729 UMLS:C0796013 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 52.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3473 Zimmermann-Laband syndrome ORPHA:3473 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536725 E (Exact mapping: the two concepts are equivalent) MedDRA:10081859 E (Exact mapping: the two concepts are equivalent) OMIM:135500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616455 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618658 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618729 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796013 E (Exact mapping: the two concepts are equivalent) Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome Congenital disorder of glycosylation due to PIGL deficiency Neuroectodermal dysplasia, CHIME type Neuroectodermal syndrome, Zunich type PIGL-CDG Zunich-Kaye syndrome CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C536729 OMIM:280000 UMLS:C1848392 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3474 CHIME syndrome ORPHA:3474 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536729 E (Exact mapping: the two concepts are equivalent) OMIM:280000 E (Exact mapping: the two concepts are equivalent) UMLS:C1848392 E (Exact mapping: the two concepts are equivalent) FBPase deficiency Fructose-1,6-diphosphatase deficiency Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. Orphanet ICD-10:E74.1 ICD-11:5C51.5Y MeSH:D015319 MedDRA:10081516 OMIM:229700 UMLS:C0016756 Autosomal recessive All ages Italy AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=348 Fructose-1,6-bisphosphatase deficiency ORPHA:348 ICD-10:E74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015319 E (Exact mapping: the two concepts are equivalent) MedDRA:10081516 E (Exact mapping: the two concepts are equivalent) OMIM:229700 E (Exact mapping: the two concepts are equivalent) UMLS:C0016756 E (Exact mapping: the two concepts are equivalent) Alpha-L-fucosidase deficiency A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Orphanet ICD-10:E77.1 ICD-11:5C56.21 MeSH:D005645 OMIM:230000 UMLS:C0016788 Autosomal recessive Childhood Infancy Cuba AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 161.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=349 Fucosidosis ORPHA:349 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005645 E (Exact mapping: the two concepts are equivalent) OMIM:230000 E (Exact mapping: the two concepts are equivalent) UMLS:C0016788 E (Exact mapping: the two concepts are equivalent) Ketotic hyperglycinemia Propionic aciduria Propionyl-CoA carboxylase deficiency Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:D056693 OMIM:606054 UMLS:C0268579 Autosomal recessive Infancy Neonatal Canada AND has_birth_prevalence_average_value : 100.0 AND has_birth_prevalence_range : >1 / 1000 China AND has_point_prevalence_average_value : 0.0278 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_birth_prevalence_average_value : 1.23 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35 Propionic acidemia ORPHA:35 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056693 E (Exact mapping: the two concepts are equivalent) OMIM:606054 E (Exact mapping: the two concepts are equivalent) UMLS:C0268579 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Fish-odor syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Trimethylaminuria ORPHA:35056 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare viral disease OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes ORPHA:35061 Severe disseminated CMV infection in immunocompetent patients A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate. Orphanet ICD-10:B25.8 UMLS:C5680152 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35062 Severe disseminated cytomegalovirus infection in immunocompetent patients ORPHA:35062 ICD-10:B25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680152 E (Exact mapping: the two concepts are equivalent) Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV. Orphanet ICD-10:K72 ICD-11:1E50.Y UMLS:C0276624 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35063 Fulminant viral hepatitis ORPHA:35063 ICD-10:K72 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1E50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0276624 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare viral disease OBSOLETE: Lethal idiopathic viral infection ORPHA:35064 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare bacterial infectious disease OBSOLETE: Idiopathic severe pneumococcemia ORPHA:35065 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidiasis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:B37 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis ORPHA:35066 ICD-10:B37 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). INAD INAD1 PLAN Phospholipase A2-associated neurodegeneration Seitelberger disease Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. Orphanet ICD-10:G23.0 ICD-11:5C64.10 MedDRA:10088200 OMIM:256600 OMIM:610217 UMLS:C0270724 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35069 Infantile neuroaxonal dystrophy ORPHA:35069 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10088200 E (Exact mapping: the two concepts are equivalent) OMIM:256600 E (Exact mapping: the two concepts are equivalent) OMIM:610217 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0270724 E (Exact mapping: the two concepts are equivalent) T-B+ SCID due to JAK3 deficiency Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. Orphanet ICD-10:D81.2 ICD-11:4A01.10 OMIM:600802 UMLS:C5680151 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency ORPHA:35078 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600802 E (Exact mapping: the two concepts are equivalent) UMLS:C5680151 E (Exact mapping: the two concepts are equivalent) Isolated sagittal craniosynostosis Isolated scaphocephaly Non-syndromic sagittal suture synostosis Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y OMIM:123100 OMIM:600775 OMIM:615529 UMLS:C5680150 Autosomal dominant Not applicable Infancy Neonatal Australia AND has_birth_prevalence_average_value : 20.7 AND has_birth_prevalence_range : 1-5 / 10 000 Australia AND has_point_prevalence_average_value : 20.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35093 Non-syndromic sagittal craniosynostosis ORPHA:35093 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:123100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600775 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615529 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680150 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Non-syndromic unicoronal synostosis OBSOLETE: Synostotic plagiocephaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic unisutural craniosynostosis OBSOLETE: Isolated plagiocephaly ORPHA:35098 Isolated bicoronal craniosynostosis Isolated brachycephaly Non-syndromic bilateral coronal suture synostosis Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y OMIM:123100 OMIM:615314 OMIM:616602 UMLS:C0221356 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35099 Non-syndromic bicoronal craniosynostosis ORPHA:35099 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:123100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615314 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616602 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0221356 E (Exact mapping: the two concepts are equivalent) Goldberg syndrome Neuraminidase deficiency with beta-galactosidase deficiency Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Orphanet ICD-10:E77.1 ICD-11:5C56.21 MeSH:C536411 MedDRA:10083306 OMIM:256540 UMLS:C0268233 Autosomal recessive All ages Sweden AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=351 Galactosialidosis ORPHA:351 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536411 E (Exact mapping: the two concepts are equivalent) MedDRA:10083306 E (Exact mapping: the two concepts are equivalent) OMIM:256540 E (Exact mapping: the two concepts are equivalent) UMLS:C0268233 E (Exact mapping: the two concepts are equivalent) Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. Orphanet ICD-10:Q87.8 ICD-11:5C52.10 MeSH:C566555 OMIM:602398 UMLS:C1865596 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35107 Desmosterolosis ORPHA:35107 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566555 E (Exact mapping: the two concepts are equivalent) OMIM:602398 E (Exact mapping: the two concepts are equivalent) UMLS:C1865596 E (Exact mapping: the two concepts are equivalent) P5N deficiency UMPH1 deficiency Uridine 5'-monophosphate hydrolase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. Orphanet ICD-10:D55.3 ICD-11:3A10.Y MeSH:C564859 OMIM:266120 UMLS:C1849507 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ORPHA:35120 ICD-10:D55.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564859 E (Exact mapping: the two concepts are equivalent) OMIM:266120 E (Exact mapping: the two concepts are equivalent) UMLS:C1849507 E (Exact mapping: the two concepts are equivalent) A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1970. Orphanet ICD-10:E83.3 ICD-11:5C64.3 OMIM:200950 UMLS:C0268410 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35121 Lysosomal acid phosphatase deficiency ORPHA:35121 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:200950 E (Exact mapping: the two concepts are equivalent) UMLS:C0268410 E (Exact mapping: the two concepts are equivalent) CSID Congenital sucrose intolerance Disaccharide intolerance A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive. Orphanet ICD-10:E74.3 ICD-11:5C61.2 MeSH:C538139 MedDRA:10066387 OMIM:222900 UMLS:C1283620 Autosomal recessive Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35122 Congenital sucrase-isomaltase deficiency ORPHA:35122 ICD-10:E74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C61.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538139 E (Exact mapping: the two concepts are equivalent) MedDRA:10066387 E (Exact mapping: the two concepts are equivalent) OMIM:222900 E (Exact mapping: the two concepts are equivalent) UMLS:C1283620 E (Exact mapping: the two concepts are equivalent) OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency OBSOLETE: HSD deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:35123 Epidermal hamartoma syndrome Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems. Orphanet ICD-10:Q85.8 ICD-11:LC02 MedDRA:10014985 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35125 Epidermal nevus syndrome ORPHA:35125 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10014985 E (Exact mapping: the two concepts are equivalent) CDPX2 CDPXD CPXD Chondrodystrophia calcificans congenita Conradi-Hünermann-Happle syndrome X-linked chondrodysplasia punctata type 2 A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Orphanet ICD-10:Q77.3 ICD-11:LD24.04 OMIM:302960 UMLS:C0282102 X-linked dominant Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35173 X-linked dominant chondrodysplasia punctata ORPHA:35173 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:302960 E (Exact mapping: the two concepts are equivalent) UMLS:C0282102 E (Exact mapping: the two concepts are equivalent) Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms). Orphanet ICD-11:5C51.4Y MeSH:D005693 MedDRA:10017604 OMIM:230200 OMIM:230350 OMIM:230400 UMLS:C0016952 Autosomal recessive Childhood Infancy Neonatal Europe AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352 Galactosemia Category ORPHA:352 ICD-11:5C51.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005693 E (Exact mapping: the two concepts are equivalent) MedDRA:10017604 E (Exact mapping: the two concepts are equivalent) OMIM:230200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:230350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:230400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0016952 E (Exact mapping: the two concepts are equivalent) 5q13.1 GRB1 PI3 kinase-associated p85 growth factor receptor bound 1 p85 p85-ALPHA p85alpha phosphoinositide-3-kinase regulatory subunit alpha ClinVar:PIK3R1 Ensembl:ENSG00000145675 Genatlas:PIK3R1 HGNC:8979 IUPHAR:2503 OMIM:171833 Reactome:P27986 SwissProt:P27986 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 19q13.42 KIAA0691 LENG2 NOT3 (negative regulator of transcription 3, yeast) homolog NOT3H ClinVar:CNOT3 Ensembl:ENSG00000088038 Genatlas:CNOT3 HGNC:7879 OMIM:604910 Reactome:O75175 SwissProt:O75175 CNOT3 CCR4-NOT transcription complex subunit 3 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Genetic neurological muscular channelopathy OBSOLETE: Genetic muscular channelopathy ORPHA:352298 UMLS:C5680990 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Category ORPHA:352301 UMLS:C5680990 E (Exact mapping: the two concepts are equivalent) UMLS:C5680993 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Category ORPHA:352306 UMLS:C5680993 E (Exact mapping: the two concepts are equivalent) UMLS:C5680992 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Category ORPHA:352309 UMLS:C5680992 E (Exact mapping: the two concepts are equivalent) UMLS:C5680991 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Category ORPHA:352312 UMLS:C5680991 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases. Orphanet ICD-10:E71.1 OMIM:614739 UMLS:C4040739 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 67.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352328 MEGDEL syndrome ORPHA:352328 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614739 E (Exact mapping: the two concepts are equivalent) UMLS:C4040739 E (Exact mapping: the two concepts are equivalent) Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome ELOVL4-related neuro ichthyosis A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. Orphanet ICD-10:Q80.8 OMIM:614457 UMLS:C3280856 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614457 E (Exact mapping: the two concepts are equivalent) UMLS:C3280856 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 14 Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome SCAR14 SPARCA SPARCA1 Spectrin-associated autosomal recessive cerebellar ataxia type 1 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to <i>SPTBN2</i> mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). Orphanet ICD-10:G11.1 OMIM:615386 UMLS:C4706415 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352403 Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615386 E (Exact mapping: the two concepts are equivalent) UMLS:C4706415 E (Exact mapping: the two concepts are equivalent) Mitochondrial DNA maintenance syndrome due to MGME1 deficiency PEO-myopathy-emaciation syndrome mtDNA maintenance syndrome due to MGME1 deficiency Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. Orphanet ICD-10:G71.3 OMIM:615084 UMLS:C4707098 Autosomal recessive All ages Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615084 E (Exact mapping: the two concepts are equivalent) UMLS:C4707098 E (Exact mapping: the two concepts are equivalent) mtDNA maintenance syndrome UMLS:C5679930 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352456 Mitochondrial DNA maintenance syndrome Category ORPHA:352456 UMLS:C5679930 E (Exact mapping: the two concepts are equivalent) Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy mtDNA deletion syndrome with limb-girdle weakness mtDNA deletion syndrome with progressive myopathy A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Orphanet ICD-10:G71.3 OMIM:615156 UMLS:C5192959 Autosomal dominant All ages Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352470 DNA2-related mitochondrial DNA deletion syndrome ORPHA:352470 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615156 E (Exact mapping: the two concepts are equivalent) UMLS:C5192959 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2U ISPD-related LGMD R20 LGMD type 2U LGMD2U Limb-girdle muscular dystrophy type 2U A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. Orphanet ICD-10:G71.0 OMIM:616052 UMLS:C5190987 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352479 ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616052 E (Exact mapping: the two concepts are equivalent) UMLS:C5190987 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Autosomal recessive LGMD with cerebellar involvement This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using ISPD-related limb-girdle muscular dystrophy R20 OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement ORPHA:352482 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MEND syndrome Digital anomalies-intellectual disability-short stature syndrome ORPHA:352487 ASD due to AUTS2 deficiency AUTS2 syndrome A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Orphanet ICD-10:F84.1 OMIM:615834 UMLS:C4749945 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352490 Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490 ICD-10:F84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615834 E (Exact mapping: the two concepts are equivalent) UMLS:C4749945 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical juvenile parkinsonism OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency ORPHA:352497 OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical juvenile parkinsonism OBSOLETE: Levodopa-unresponsive juvenile parkinsonism ORPHA:352504 Autosomal recessive intellectual disability due to TRAPPC9 deficiency Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. Orphanet ICD-10:Q04.8 OMIM:613192 UMLS:C4706414 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613192 E (Exact mapping: the two concepts are equivalent) UMLS:C4706414 E (Exact mapping: the two concepts are equivalent) Oncogenic hypophosphatemic osteomalacia TIO Tumor-induced osteomalacia A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children. Orphanet ICD-10:M83.8 ICD-11:FB80.Y MeSH:C537751 UMLS:C1274103 Not applicable All ages Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352540 Oncogenic osteomalacia ORPHA:352540 ICD-10:M83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB80.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537751 E (Exact mapping: the two concepts are equivalent) UMLS:C1274103 E (Exact mapping: the two concepts are equivalent) 10q26.3 methylated-DNA--protein-cysteine methyltransferase ClinVar:MGMT Ensembl:ENSG00000170430 Genatlas:MGMT HGNC:7059 OMIM:156569 Reactome:P16455 SwissProt:P16455 MGMT O-6-methylguanine-DNA methyltransferase COXPD16 Combined oxidative phosphorylation defect type 16 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Orphanet ICD-10:E88.8 OMIM:615395 UMLS:C4749946 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency ORPHA:352563 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615395 E (Exact mapping: the two concepts are equivalent) UMLS:C4749946 E (Exact mapping: the two concepts are equivalent) Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed. Orphanet ICD-10:Q87.0 MeSH:C000726367 OMIM:615485 UMLS:C4750837 Autosomal dominant Not applicable Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 77.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352577 Bainbridge-Ropers syndrome ORPHA:352577 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000726367 E (Exact mapping: the two concepts are equivalent) OMIM:615485 E (Exact mapping: the two concepts are equivalent) UMLS:C4750837 E (Exact mapping: the two concepts are equivalent) FIME Familial infantile myoclonus epilepsy A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. Orphanet ICD-10:G40.3 OMIM:605021 UMLS:C0917800 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352582 Familial infantile myoclonic epilepsy ORPHA:352582 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605021 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0917800 E (Exact mapping: the two concepts are equivalent) Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed. Orphanet ICD-10:Q04.8 OMIM:605021 UMLS:C4707306 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605021 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707306 E (Exact mapping: the two concepts are equivalent) PMED Progressive myoclonus epilepsy with dystonia Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. Orphanet ICD-10:G40.3 OMIM:615338 UMLS:C4706413 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352596 Progressive myoclonic epilepsy with dystonia ORPHA:352596 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615338 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4706413 E (Exact mapping: the two concepts are equivalent) 7p11.2 ClinVar:PHKG1 Ensembl:ENSG00000164776 Genatlas:PHKG1 HGNC:8930 IUPHAR:2145 OMIM:172470 Reactome:Q16816 SwissProt:Q16816 PHKG1 phosphorylase kinase catalytic subunit gamma 1 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Male infertility with teratozoospermia due to single gene mutation Male infertility due to NANOS1 mutation ORPHA:352613 Del(16)(q24.1) Monosomy 16q24.1 A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). Orphanet ICD-10:Q93.5 UMLS:C4749464 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 42.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352629 16q24.1 microdeletion syndrome ORPHA:352629 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749464 E (Exact mapping: the two concepts are equivalent) Phalangeal osteolysis A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. Orphanet ICD-10:M89.5 UMLS:C4749465 Not applicable Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352636 Phalangeal microgeodic syndrome ORPHA:352636 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749465 E (Exact mapping: the two concepts are equivalent) Autosomal recessive cerebellar ataxia due to GBA2 deficiency A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. Orphanet ICD-10:G11.8 UMLS:C4706412 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352641 Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706412 E (Exact mapping: the two concepts are equivalent) 8p11.21 FLJ23356 SGK196 SgK196 Ensembl:ENSG00000185900 HGNC:26267 OMIM:615247 Reactome:Q9H5K3 SwissProt:Q9H5K3 POMK protein O-mannose kinase A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. Orphanet ICD-10:G25.8 OMIM:618049 UMLS:C4303546 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352649 Brain dopamine-serotonin vesicular transport disease ORPHA:352649 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618049 E (Exact mapping: the two concepts are equivalent) UMLS:C4303546 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spastic paraplegia type 79 A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. Orphanet ICD-10:G31.8 OMIM:615491 UMLS:C4749947 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ORPHA:352654 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615491 E (Exact mapping: the two concepts are equivalent) UMLS:C4749947 E (Exact mapping: the two concepts are equivalent) HBID Hereditary benign corneal intraepithelial dyskeratosis A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis. Orphanet ICD-10:Q82.8 ICD-11:DA02.0 MeSH:C562551 OMIM:127600 UMLS:C0265966 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352657 Hereditary benign intraepithelial dyskeratosis ORPHA:352657 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA02.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562551 E (Exact mapping: the two concepts are equivalent) OMIM:127600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265966 E (Exact mapping: the two concepts are equivalent) A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening. Orphanet ICD-10:Q82.8 OMIM:615225 UMLS:C4751001 Autosomal dominant All ages Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ORPHA:352662 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615225 E (Exact mapping: the two concepts are equivalent) UMLS:C4751001 E (Exact mapping: the two concepts are equivalent) 9q21.3 microdeletion syndrome Del(9)(q21.3) ICD-10:Q93.5 OMIM:616580 UMLS:C5679925 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Etiological subtype ORPHA:352665 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616580 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679925 E (Exact mapping: the two concepts are equivalent) CMTDIF A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Orphanet ICD-10:G60.0 ICD-11:8C20.2 OMIM:615185 UMLS:C4749463 Autosomal dominant All ages Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ORPHA:352670 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615185 E (Exact mapping: the two concepts are equivalent) UMLS:C4749463 E (Exact mapping: the two concepts are equivalent) CMT6X CMTX6 A rare genetic peripheral sensorimotor neuropathy characterized by principally axonal, peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-adolescence-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). Orphanet ICD-10:G60.0 OMIM:300905 UMLS:C3806702 X-linked dominant Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352675 X-linked Charcot-Marie-Tooth disease type 6 ORPHA:352675 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300905 E (Exact mapping: the two concepts are equivalent) UMLS:C3806702 E (Exact mapping: the two concepts are equivalent) Cobblestone lissencephaly without muscular or eye involvement Lissencephaly type 2 without muscular or eye involvement Lissencephaly type 2 without muscular or ocular involvement A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. Orphanet ICD-10:Q04.3 OMIM:615191 UMLS:C5191415 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352682 Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615191 E (Exact mapping: the two concepts are equivalent) UMLS:C5191415 E (Exact mapping: the two concepts are equivalent) Lissencephaly type 2 with muscular and ocular involvement MDDGA Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. Orphanet UMLS:C5679924 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Clinical group ORPHA:352687 UMLS:C5679924 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Lissencephaly type 2A This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies OBSOLETE: Cobblestone lissencephaly type A ORPHA:352694 OBSOLETE: Lissencephaly type 2C This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies OBSOLETE: Cobblestone lissencephaly type C ORPHA:352699 OBSOLETE: Lissencephaly type 2B This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies OBSOLETE: Cobblestone lissencephaly type B ORPHA:352704 Kufs type B disease Neuronal ceroid lipofuscinosis type 13 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352709 CLN13 disease ORPHA:352709 FILS syndrome Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. Orphanet ICD-10:Q87.1 OMIM:615139 UMLS:C4749948 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome ORPHA:352712 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615139 E (Exact mapping: the two concepts are equivalent) UMLS:C4749948 E (Exact mapping: the two concepts are equivalent) Retinol dystrophy-iris coloboma-comedogenic acne syndrome Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. Orphanet ICD-10:H35.5 OMIM:615147 UMLS:C4751000 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352718 Progressive retinal dystrophy due to retinol transport defect ORPHA:352718 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615147 E (Exact mapping: the two concepts are equivalent) UMLS:C4751000 E (Exact mapping: the two concepts are equivalent) Atypical Chédiak-Higashi syndrome A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Orphanet ICD-10:E70.3 UMLS:C4304022 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352723 Attenuated Chédiak-Higashi syndrome ORPHA:352723 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304022 E (Exact mapping: the two concepts are equivalent) UMLS:C5680988 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352728 Disorder of melanin metabolism Category ORPHA:352728 UMLS:C5680988 E (Exact mapping: the two concepts are equivalent) OCA1 A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:C537728 OMIM:203100 OMIM:606952 UMLS:C0268494 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352731 Oculocutaneous albinism type 1 ORPHA:352731 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537728 E (Exact mapping: the two concepts are equivalent) OMIM:203100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606952 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268494 E (Exact mapping: the two concepts are equivalent) MP OCA type 1 OCA1-MP An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. Orphanet ICD-10:E70.3 ICD-11:EC23.20 UMLS:C5679923 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352734 Minimal pigment oculocutaneous albinism type 1 Clinical subtype ORPHA:352734 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679923 E (Exact mapping: the two concepts are equivalent) OCA1-TS TS OCA type 1 An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted. Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:C564645 OMIM:606952 UMLS:C1847132 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352737 Temperature-sensitive oculocutaneous albinism type 1 Clinical subtype ORPHA:352737 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C564645 E (Exact mapping: the two concepts are equivalent) OMIM:606952 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1847132 E (Exact mapping: the two concepts are equivalent) Ocular albinism with congenital sensorineural hearing loss Waardenburg syndrome type 2 with ocular albinism This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Waardenburg syndrome type 2 Ocular albinism with congenital sensorineural deafness ORPHA:352740 OCA7 A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:615179 UMLS:C3808786 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352745 Oculocutaneous albinism type 7 ORPHA:352745 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615179 E (Exact mapping: the two concepts are equivalent) UMLS:C3808786 E (Exact mapping: the two concepts are equivalent) Buschke scleredema A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms. Orphanet ICD-10:M34.8 ICD-11:EE7Y MedDRA:10055953 Not applicable Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=352763 Scleredema ORPHA:352763 ICD-10:M34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EE7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10055953 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2C Gamma-sarcoglycan-related LGMD R5 Gamma-sarcoglycanopathy LGMD due to gamma-sarcoglycan deficiency LGMD type 2C LGMD2C Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2C A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MeSH:C535900 OMIM:253700 UMLS:C0410173 Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORPHA:353 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535900 E (Exact mapping: the two concepts are equivalent) OMIM:253700 E (Exact mapping: the two concepts are equivalent) UMLS:C0410173 E (Exact mapping: the two concepts are equivalent) 2p13.3 ATR Anthrax toxin receptor FLJ10601 FLJ21776 TEM8 Tumor endothelial marker 8 precursor anthrax toxin receptor tumor endothelial marker 8 precursor ClinVar:ANTXR1 Ensembl:ENSG00000169604 Genatlas:ANTXR1 HGNC:21014 OMIM:606410 Reactome:Q9H6X2 SwissProt:Q9H6X2 ANTXR1 ANTXR cell adhesion molecule 1 AGC1 deficiency Mitochondrial aspartate-glutamate carrier 1 deficiency Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. Orphanet ICD-10:E88.8 ICD-11:5C53.30 OMIM:612949 UMLS:C4512050 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353217 Epileptic encephalopathy with global cerebral demyelination ORPHA:353217 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612949 E (Exact mapping: the two concepts are equivalent) UMLS:C4512050 E (Exact mapping: the two concepts are equivalent) FPLCA A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis). Orphanet ICD-10:E85.4+ ICD-10:L99.0* OMIM:105250 OMIM:613955 UMLS:C5679926 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353220 Familial primary localized cutaneous amyloidosis ORPHA:353220 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:105250 E (Exact mapping: the two concepts are equivalent) OMIM:613955 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679926 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: POAG This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:H40.1 NON RARE IN EUROPE: Primary adult open-angle glaucoma ORPHA:353225 ICD-10:H40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 4q22.1 ARHGAP48 KIAA0914 ClinVar:FAM13A Ensembl:ENSG00000138640 Genatlas:FAM13A HGNC:19367 OMIM:613299 Reactome:O94988 SwissProt:O94988 FAM13A family with sequence similarity 13 member A 10q24.33 FLJ22559 bA541N10.2 ClinVar:OBFC1 Ensembl:ENSG00000107960 Genatlas:OBFC1 HGNC:26200 OMIM:613128 Reactome:Q9H668 SwissProt:Q9H668 STN1 STN1 subunit of CST complex 13q34 ATPIH ATPIS KIAA1021 Phospholipid-translocating ATPase Potential phospholipid-transporting ATPase IH phospholipid-translocating ATPase potential phospholipid-transporting ATPase IH ClinVar:ATP11A Ensembl:ENSG00000068650 Genatlas:ATP11A HGNC:13552 IUPHAR:865 OMIM:605868 Reactome:P98196 SwissProt:P98196 ATP11A ATPase phospholipid transporting 11A 19p13.3 ClinVar:DPP9 Ensembl:ENSG00000142002 Genatlas:DPP9 HGNC:18648 IUPHAR:2357 OMIM:608258 SwissProt:Q86TI2 DPP9 dipeptidyl peptidase 9 BMS Oral dysesthesia Orodynia Stomatodynia Stomatopyrosis A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia. Orphanet ICD-10:K14.6 ICD-11:DA0F.0 MeSH:D002054 MedDRA:10068065 UMLS:C0006430 Adult Europe AND has_point_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353253 Burning mouth syndrome ORPHA:353253 ICD-10:K14.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA0F.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002054 E (Exact mapping: the two concepts are equivalent) MedDRA:10068065 E (Exact mapping: the two concepts are equivalent) UMLS:C0006430 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.2 OMIM:180849 UMLS:C5681840 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353277 Rubinstein-Taybi syndrome due to CREBBP mutations Etiological subtype ORPHA:353277 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:180849 E (Exact mapping: the two concepts are equivalent) UMLS:C5681840 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.2 ICD-11:LD44.G1 OMIM:610543 UMLS:C1864648 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Etiological subtype ORPHA:353281 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610543 E (Exact mapping: the two concepts are equivalent) UMLS:C1864648 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.2 OMIM:613684 UMLS:C3150941 Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Etiological subtype ORPHA:353284 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613684 E (Exact mapping: the two concepts are equivalent) UMLS:C3150941 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. Orphanet ICD-10:Q77.7 MeSH:C535866 OMIM:616651 UMLS:C1846059 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353298 Roifman syndrome ORPHA:353298 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535866 E (Exact mapping: the two concepts are equivalent) OMIM:616651 E (Exact mapping: the two concepts are equivalent) UMLS:C1846059 E (Exact mapping: the two concepts are equivalent) Pyruvate carboxylase deficiency type A Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. Orphanet ICD-10:E74.4 ICD-11:5C53.03 OMIM:266150 UMLS:C5679928 Autosomal recessive Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353308 Pyruvate carboxylase deficiency, infantile type Clinical subtype ORPHA:353308 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:266150 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679928 E (Exact mapping: the two concepts are equivalent) Pyruvate carboxylase deficiency type B Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. Orphanet ICD-10:E74.4 ICD-11:5C53.03 OMIM:266150 UMLS:C5679929 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353314 Pyruvate carboxylase deficiency, severe neonatal type Clinical subtype ORPHA:353314 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:266150 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679929 E (Exact mapping: the two concepts are equivalent) Pyruvate carboxylase deficiency type C Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. Orphanet ICD-10:E74.4 ICD-11:5C53.03 OMIM:266150 UMLS:C5679927 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353320 Pyruvate carboxylase deficiency, benign type Clinical subtype ORPHA:353320 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:266150 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679927 E (Exact mapping: the two concepts are equivalent) ICD-10:G70.2 ICD-11:8C61 OMIM:610542 OMIM:614750 OMIM:616227 OMIM:616228 UMLS:C5680989 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353327 Congenital myasthenic syndromes with glycosylation defect Etiological subtype ORPHA:353327 ICD-10:G70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610542 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616227 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616228 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680989 E (Exact mapping: the two concepts are equivalent) 7q31.33 DKFZp586D211 hPot1 ClinVar:POT1 Ensembl:ENSG00000128513 Genatlas:POT1 HGNC:17284 OMIM:606478 Reactome:Q9NUX5 SwissProt:Q9NUX5 POT1 protection of telomeres 1 Congenital arteriovenous anastomoses of the retina Congenital arteriovenous communication of the retina Congenital retinal arteriovenous anastomoses A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present. Orphanet ICD-10:Q14.1 MedDRA:10038824 UMLS:C0521570 Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353334 Congenital retinal arteriovenous communication ORPHA:353334 ICD-10:Q14.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10038824 E (Exact mapping: the two concepts are equivalent) UMLS:C0521570 E (Exact mapping: the two concepts are equivalent) Aneurysmal telangiectasia Visible and exudative idiopathic juxtafoveolar retinal telangiectasis Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. Orphanet ICD-10:H35.0 ICD-11:9B75.3 UMLS:C4751437 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353344 Idiopathic macular telangiectasia type 1 ORPHA:353344 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B75.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4751437 E (Exact mapping: the two concepts are equivalent) Occlusive idiopathic juxtafoveolar retinal telangiectasis Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. Orphanet ICD-10:H35.0 ICD-11:9B75.3 UMLS:C4751436 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353351 Idiopathic macular telangiectasia type 3 ORPHA:353351 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B75.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751436 E (Exact mapping: the two concepts are equivalent) Retinal vasoproliferative tumor VPTR Vasoproliferative tumor of the ocular fundus Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported. Orphanet ICD-10:D31.2 UMLS:C4749792 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=353356 Vasoproliferative tumor of the retina ORPHA:353356 ICD-10:D31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749792 E (Exact mapping: the two concepts are equivalent) 2p13.1 AMSH ClinVar:STAMBP Ensembl:ENSG00000124356 Genatlas:STAMBP HGNC:16950 OMIM:606247 Reactome:O95630 SwissProt:O95630 STAMBP STAM binding protein 22q12.2-q12.3 DEP.5 KIAA0645 ClinVar:DEPDC5 Ensembl:ENSG00000100150 Genatlas:DEPDC5 HGNC:18423 OMIM:614191 SwissProt:O75140 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit 2p21 KIAA1140 ClinVar:TTC7A Ensembl:ENSG00000068724 Genatlas:TTC7A HGNC:19750 OMIM:609332 SwissProt:Q9ULT0 TTC7A tetratricopeptide repeat domain 7A 9q21.2 G-ALPHA-q GAQ ClinVar:GNAQ Ensembl:ENSG00000156052 Genatlas:GNAQ HGNC:4390 IUPHAR:2914 OMIM:600998 Reactome:P50148 SwissProt:P50148 GNAQ G protein subunit alpha q 7q34 ClinVar:KIAA1549 Ensembl:ENSG00000122778 Genatlas:KIAA1549 HGNC:22219 OMIM:613344 Reactome:Q9HCM3 SwissProt:Q9HCM3 KIAA1549 KIAA1549 9p24.2 EAAC1 EAAT3 Excitatory amino acid transporter 3 excitatory amino acid carrier 1 hEAAC1 ClinVar:SLC1A1 Ensembl:ENSG00000106688 Genatlas:SLC1A1 HGNC:10939 IUPHAR:870 OMIM:133550 Reactome:P43005 SwissProt:P43005 SLC1A1 solute carrier family 1 member 1 18q21.1 ATP5A OMR ORM hATP1 ClinVar:ATP5A1 Ensembl:ENSG00000152234 Genatlas:ATP5A1 HGNC:823 IUPHAR:796 OMIM:164360 Reactome:P25705 SwissProt:P25705 ATP5F1A ATP synthase F1 subunit alpha 16p13.3 ClinVar:DNASE1 Ensembl:ENSG00000213918 Genatlas:DNASE1 HGNC:2956 OMIM:125505 SwissProt:P24855 DNASE1 deoxyribonuclease 1 4q24 BANK FLJ20706 ClinVar:BANK1 Ensembl:ENSG00000153064 Genatlas:BANK1 HGNC:18233 OMIM:610292 SwissProt:Q8NDB2 BANK1 B cell scaffold protein with ankyrin repeats 1 13q31.1 FLJ22774 ClinVar:SLITRK6 Ensembl:ENSG00000184564 Genatlas:SLITRK6 HGNC:23503 OMIM:609681 Reactome:Q9H5Y7 SwissProt:Q9H5Y7 SLITRK6 SLIT and NTRK like family member 6 Xq11.2 HCA127 ClinVar:ZC4H2 Ensembl:ENSG00000126970 Genatlas:ZC4H2 HGNC:24931 OMIM:300897 SwissProt:Q9NQZ6 ZC4H2 zinc finger C4H2-type containing 3p14.3 FLJ35755 IL-17RD IL17RLM SEF similar expression to fgf genes ClinVar:IL17RD Ensembl:ENSG00000144730 Genatlas:IL17RD HGNC:17616 IUPHAR:1741 OMIM:606807 Reactome:Q8NFM7 SwissProt:Q8NFM7 IL17RD interleukin 17 receptor D 8p21.3 FGF-13 ClinVar:FGF17 Ensembl:ENSG00000158815 Genatlas:FGF17 HGNC:3673 OMIM:603725 Reactome:O60258 SwissProt:O60258 FGF17 fibroblast growth factor 17 12q21.33 MKP-3 PYST1 ClinVar:DUSP6 Ensembl:ENSG00000139318 Genatlas:DUSP6 HGNC:3072 OMIM:602748 Reactome:Q16828 SwissProt:Q16828 DUSP6 dual specificity phosphatase 6 5q31.3 ClinVar:SPRY4 Ensembl:ENSG00000187678 Genatlas:SPRY4 HGNC:15533 OMIM:607984 Reactome:Q9C004 SwissProt:Q9C004 SPRY4 sprouty RTK signaling antagonist 4 20p12.1 ClinVar:FLRT3 Ensembl:ENSG00000125848 Genatlas:FLRT3 HGNC:3762 OMIM:604808 Reactome:Q9NZU0 SwissProt:Q9NZU0 FLRT3 fibronectin leucine rich transmembrane protein 3 9q33.1 ARMD10 CD284 TLR-4 hToll ClinVar:TLR4 Ensembl:ENSG00000136869 Genatlas:TLR4 HGNC:11850 IUPHAR:1754 OMIM:603030 Reactome:O00206 SwissProt:O00206 TLR4 toll like receptor 4 1p22.3 CaCC2 ClinVar:CLCA4 Ensembl:ENSG00000016602 Genatlas:CLCA4 HGNC:2018 OMIM:616857 Reactome:Q14CN2 SwissProt:Q14CN2 CLCA4 chloride channel accessory 4 Beta-galactosidase-1 deficiency GLB1 deficiency Landing disease GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. Orphanet ICD-10:E75.1 ICD-11:5C56.00 MeSH:D016537 OMIM:230500 OMIM:230600 OMIM:230650 UMLS:C0085131 Autosomal recessive Childhood Brazil AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Malta AND has_birth_prevalence_average_value : 27.0 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=354 GM1 gangliosidosis ORPHA:354 ICD-10:E75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016537 E (Exact mapping: the two concepts are equivalent) OMIM:230500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:230600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:230650 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0085131 E (Exact mapping: the two concepts are equivalent) 10q22.2-q22.3 CDA017 OCA7 oculocutaneous albinism 7, autosomal recessive ClinVar:C10orf11 Ensembl:ENSG00000148655 Genatlas:C10orf11 HGNC:23405 OMIM:614537 SwissProt:Q9H2I8 LRMDA leucine rich melanocyte differentiation associated 12q13.3 MGC2793 ClinVar:STAC3 Ensembl:ENSG00000185482 Genatlas:STAC3 HGNC:28423 OMIM:615521 Reactome:Q96MF2 SwissProt:Q96MF2 STAC3 SH3 and cysteine rich domain 3 20p11.23 DDK1 bA504H3.4 ClinVar:MGME1 Ensembl:ENSG00000125871 Genatlas:MGME1 HGNC:16205 OMIM:615076 Reactome:Q9BQP7 SwissProt:Q9BQP7 MGME1 mitochondrial genome maintenance exonuclease 1 Acid beta-glucosidase deficiency Glucocerebrosidase deficiency Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MeSH:D005776 MedDRA:10018048 OMIM:230800 OMIM:230900 OMIM:231000 OMIM:231005 OMIM:608013 OMIM:610539 UMLS:C0017205 Autosomal recessive All ages Australia AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Austria AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.224 AND has_point_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 1.13 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 0.74 AND has_point_prevalence_range : 1-9 / 1 000 000 Hungary AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 0.67 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 2.11 AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=355 Gaucher disease ORPHA:355 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005776 E (Exact mapping: the two concepts are equivalent) MedDRA:10018048 E (Exact mapping: the two concepts are equivalent) OMIM:230800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:230900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:231000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:231005 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608013 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610539 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0017205 E (Exact mapping: the two concepts are equivalent) 5q11.2 FLJ11795 ClinVar:ANKRD55 Ensembl:ENSG00000164512 Genatlas:ANKRD55 HGNC:25681 OMIM:615189 Reactome:Q3KP44 SwissProt:Q3KP44 ANKRD55 ankyrin repeat domain 55 22q12.3 CD122 ClinVar:IL2RB Ensembl:ENSG00000100385 Genatlas:IL2RB HGNC:6009 IUPHAR:1696 OMIM:146710 Reactome:P14784 SwissProt:P14784 IL2RB interleukin 2 receptor subunit beta Subacute spongiform encephalopathy, Gerstmann-Straussler type A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex. Orphanet ICD-10:A81.8 ICD-11:8E02.1 MeSH:D016098 MedDRA:10072075 OMIM:137440 UMLS:C0017495 Autosomal dominant Not applicable Adult Worldwide AND has_annual_incidence_average_value : 0.0055 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=356 Gerstmann-Straussler-Scheinker syndrome ORPHA:356 ICD-10:A81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E02.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016098 E (Exact mapping: the two concepts are equivalent) MedDRA:10072075 E (Exact mapping: the two concepts are equivalent) OMIM:137440 E (Exact mapping: the two concepts are equivalent) UMLS:C0017495 E (Exact mapping: the two concepts are equivalent) 17q25.3 RHOGDI ClinVar:ARHGDIA Ensembl:ENSG00000141522 Genatlas:ARHGDIA HGNC:678 OMIM:601925 Reactome:P52565 SwissProt:P52565 ARHGDIA Rho GDP dissociation inhibitor alpha Nanophthalmia A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Orphanet ICD-10:Q11.2 ICD-11:LA10.0 OMIM:600165 OMIM:609549 OMIM:611897 OMIM:613517 OMIM:615972 UMLS:C4274282 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35612 Nanophthalmos ORPHA:35612 ICD-10:Q11.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600165 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609549 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611897 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613517 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615972 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274282 E (Exact mapping: the two concepts are equivalent) 1p31.3 KIAA0473 PARK19 auxilin ClinVar:DNAJC6 Ensembl:ENSG00000116675 Genatlas:DNAJC6 HGNC:15469 OMIM:608375 Reactome:O75061 SwissProt:O75061 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 2q36.1 39S ribosomal protein L44, mitochondrial FLJ12701 FLJ13990 mL44 ClinVar:MRPL44 Ensembl:ENSG00000135900 Genatlas:MRPL44 HGNC:16650 OMIM:611849 Reactome:Q9H9J2 SwissProt:Q9H9J2 MRPL44 mitochondrial ribosomal protein L44 18q12.1 ClinVar:ASXL3 Ensembl:ENSG00000141431 Genatlas:ASXL3 HGNC:29357 OMIM:615115 SwissProt:Q9C0F0 ASXL3 ASXL transcriptional regulator 3 10q26.11 NOS1 ZC2HC12A ClinVar:NANOS1 Ensembl:ENSG00000188613 Genatlas:NANOS1 HGNC:23044 OMIM:608226 SwissProt:Q8WY41 NANOS1 nanos C2HC-type zinc finger 1 10q25.3 SVAT SVMT Synaptic vesicular amine transporter VAT2 ClinVar:SLC18A2 Ensembl:ENSG00000165646 Genatlas:SLC18A2 HGNC:10935 IUPHAR:1012 OMIM:193001 Reactome:Q05940 SwissProt:Q05940 SLC18A2 solute carrier family 18 member A2 3q26.33 Guanine nucleotide-binding protein subunit beta-4 transducin beta chain 4 ClinVar:GNB4 Ensembl:ENSG00000114450 Genatlas:GNB4 HGNC:20731 OMIM:610863 Reactome:Q9HAV0 SwissProt:Q9HAV0 GNB4 G protein subunit beta 4 Xp22.11 ClinVar:PDK3 Ensembl:ENSG00000067992 Genatlas:PDK3 HGNC:8811 IUPHAR:2143 OMIM:300906 Reactome:Q15120 SwissProt:Q15120 PDK3 pyruvate dehydrogenase kinase 3 7q31.1 ClinVar:LAMB1 Ensembl:ENSG00000091136 Genatlas:LAMB1 HGNC:6486 OMIM:150240 Reactome:P07942 SwissProt:P07942 LAMB1 laminin subunit beta 1 11q13.2 CATSF CLN13 ClinVar:CTSF Ensembl:ENSG00000174080 Genatlas:CTSF HGNC:2531 IUPHAR:2347 OMIM:603539 Reactome:Q9UBX1 SwissProt:Q9UBX1 CTSF cathepsin F 12q24.33 DNA polymerase epsilon catalytic subunit A POLE1 ClinVar:POLE Ensembl:ENSG00000177084 Genatlas:POLE HGNC:9177 OMIM:174762 Reactome:Q07864 SwissProt:Q07864 POLE DNA polymerase epsilon, catalytic subunit 10q23.33 ClinVar:RBP4 Ensembl:ENSG00000138207 Genatlas:RBP4 HGNC:9922 IUPHAR:2549 OMIM:180250 Reactome:P02753 SwissProt:P02753 RBP4 retinol binding protein 4 2q31.1 AGC1 Aralar Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial aralar1 aspartate/glutamate carrier 1 ClinVar:SLC25A12 Ensembl:ENSG00000115840 Genatlas:SLC25A12 HGNC:10982 IUPHAR:1054 OMIM:603667 Reactome:O75746 SwissProt:O75746 SLC25A12 solute carrier family 25 member 12 6q25.3 FLJ14917 ClinVar:SERAC1 Ensembl:ENSG00000122335 Genatlas:SERAC1 HGNC:21061 OMIM:614725 SwissProt:Q96JX3 SERAC1 serine active site containing 1 CoQ10 deficiency ICD-11:5C53.22 MeSH:C564403 UMLS:C1843920 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35656 Coenzyme Q10 deficiency Clinical group ORPHA:35656 ICD-11:5C53.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C564403 E (Exact mapping: the two concepts are equivalent) UMLS:C1843920 E (Exact mapping: the two concepts are equivalent) 14q32.33 ClinVar:IGHV4-34 Ensembl:ENSG00000211956 Genatlas:IGHV4-34 HGNC:5650 Reactome:P06331 SwissProt:P06331 IGHV4-34 immunoglobulin heavy variable 4-34 Delta-1-pyrroline 5-carboxylate synthetase deficiency Neurocutaneous syndrome, Bicknell type P5CS deficiency A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Orphanet ICD-10:Q87.8 ICD-11:5C50.8 OMIM:219150 UMLS:C5234852 Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35664 ALDH18A1-related De Barsy syndrome Etiological subtype ORPHA:35664 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:219150 E (Exact mapping: the two concepts are equivalent) UMLS:C5234852 E (Exact mapping: the two concepts are equivalent) 12p13.31 CD27 antigen S152 T-cell activation antigen S152 Tp55 ClinVar:CD27 Ensembl:ENSG00000139193 Genatlas:CD27 HGNC:11922 IUPHAR:1876 OMIM:186711 Reactome:P26842 SwissProt:P26842 CD27 CD27 molecule Geographic helicoid peripapillary choroidopathy A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes. Orphanet ICD-10:H30.8 ICD-11:9B65.0 MedDRA:10081652 UMLS:C0729842 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35686 Serpiginous choroiditis ORPHA:35686 ICD-10:H30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081652 E (Exact mapping: the two concepts are equivalent) UMLS:C0729842 E (Exact mapping: the two concepts are equivalent) Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. Orphanet ICD-10:D76.3 ICD-11:2B31.Y ICD-11:XH1VJ3 MeSH:D031249 MedDRA:10060801 UMLS:C0878675 Not applicable Adult Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35687 Erdheim-Chester disease ORPHA:35687 ICD-10:D76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1VJ3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D031249 E (Exact mapping: the two concepts are equivalent) MedDRA:10060801 E (Exact mapping: the two concepts are equivalent) UMLS:C0878675 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Léri-Weill dyschondrosteosis OBSOLETE: Madelung deformity ORPHA:35688 Adult-onset PLS Adult-onset primary lateral sclerosis PLS Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. Orphanet ICD-10:G12.2 ICD-11:8B60.4 MedDRA:10036704 OMIM:611637 UMLS:C0154682 Autosomal dominant Autosomal recessive Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35689 Primary lateral sclerosis ORPHA:35689 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B60.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10036704 E (Exact mapping: the two concepts are equivalent) OMIM:611637 E (Exact mapping: the two concepts are equivalent) UMLS:C0154682 E (Exact mapping: the two concepts are equivalent) 1p36.33 beta-1,3-galactosyltransferase-6 beta3GalT6 ClinVar:B3GALT6 Ensembl:ENSG00000176022 Genatlas:B3GALT6 HGNC:17978 OMIM:615291 Reactome:Q96L58 SwissProt:Q96L58 B3GALT6 beta-1,3-galactosyltransferase 6 Del(3)(q26q27) Monosomy 3q26q27 A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. Orphanet ICD-10:Q93.5 UMLS:C4755255 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=356947 3q26q27 microdeletion syndrome ORPHA:356947 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755255 E (Exact mapping: the two concepts are equivalent) COXPD Combined OXPHOS defect Combined OXPHOS deficiency Combined oxidative phosphorylation defect https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis Category ORPHA:35696 CDG syndrome type IIm CDG-IIm CDG2M Congenital disorder of glycosylation type 2m Congenital disorder of glycosylation type IIm A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Orphanet ICD-10:E77.8 ICD-11:5C54.2 OMIM:300896 UMLS:C3806688 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=356961 SLC35A2-CDG ORPHA:356961 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300896 E (Exact mapping: the two concepts are equivalent) UMLS:C3806688 E (Exact mapping: the two concepts are equivalent) Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria D,L-2-HGA D,L-2-hydroxyglutaric acidemia A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. Orphanet ICD-10:E72.8 ICD-11:5C50.E1 OMIM:615182 UMLS:C5574940 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=356978 D,L-2-hydroxyglutaric aciduria ORPHA:356978 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615182 E (Exact mapping: the two concepts are equivalent) UMLS:C5574940 E (Exact mapping: the two concepts are equivalent) mtDNA depletion syndrome A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. Orphanet ICD-11:5C53.20 MedDRA:10059396 UMLS:C0342782 All ages Israel AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35698 Mitochondrial DNA depletion syndrome Category ORPHA:35698 ICD-11:5C53.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10059396 E (Exact mapping: the two concepts are equivalent) UMLS:C0342782 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (<i>ANK3</i> gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported. Orphanet ICD-10:G93.8 OMIM:615493 UMLS:C5192596 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=356996 ANK3-related intellectual disability-sleep disturbance syndrome ORPHA:356996 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615493 E (Exact mapping: the two concepts are equivalent) UMLS:C5192596 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Familial cholemia NON RARE IN EUROPE: Hyperbilirubinemia type 1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E80.4 NON RARE IN EUROPE: Gilbert syndrome ORPHA:357 ICD-10:E80.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Del(19)(p13.13) Monosomy 19p13.13 A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). Orphanet ICD-10:Q93.5 OMIM:613638 UMLS:C3150894 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357001 19p13.13 microdeletion syndrome ORPHA:357001 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613638 E (Exact mapping: the two concepts are equivalent) UMLS:C3150894 E (Exact mapping: the two concepts are equivalent) HUS with DGKE deficiency A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. Orphanet ICD-10:D58.8 OMIM:615008 UMLS:C5679921 Autosomal recessive Not applicable Infancy Worldwide AND has_cases/families_value : 47.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357008 Hemolytic uremic syndrome with DGKE deficiency ORPHA:357008 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615008 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679921 E (Exact mapping: the two concepts are equivalent) HMG-CoA synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. Orphanet ICD-10:E71.3 ICD-11:5C52.02 OMIM:605911 UMLS:C4510940 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ORPHA:35701 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605911 E (Exact mapping: the two concepts are equivalent) UMLS:C4510940 E (Exact mapping: the two concepts are equivalent) 20q11.21 FUT12 GDP-fucose protein O-fucosyltransferase 1 KIAA0180 O-FUT O-Fuc-T Peptide-O-fucosyltransferase peptide-O-fucosyltransferase ClinVar:POFUT1 Ensembl:ENSG00000101346 Genatlas:POFUT1 HGNC:14988 OMIM:607491 Reactome:Q9H488 SwissProt:Q9H488 POFUT1 protein O-fucosyltransferase 1 ICD-10:C69.2 ICD-11:2D02.2 OMIM:180200 UMLS:C0751483 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357027 Hereditary retinoblastoma Clinical subtype ORPHA:357027 ICD-10:C69.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D02.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:180200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751483 E (Exact mapping: the two concepts are equivalent) ICD-10:C69.2 ICD-11:2D02.2 OMIM:180200 UMLS:C5680987 Not applicable Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357034 Non-hereditary retinoblastoma Clinical subtype ORPHA:357034 ICD-10:C69.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D02.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:180200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680987 E (Exact mapping: the two concepts are equivalent) AGAT deficiency L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. Orphanet ICD-10:E72.8 ICD-11:5C53.4 MeSH:C567192 OMIM:612718 UMLS:C2675179 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35704 L-Arginine:glycine amidinotransferase deficiency ORPHA:35704 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567192 E (Exact mapping: the two concepts are equivalent) OMIM:612718 E (Exact mapping: the two concepts are equivalent) UMLS:C2675179 E (Exact mapping: the two concepts are equivalent) ALS4 Distal hereditary motor neuropathy with upper motor neuron signs dHMN with upper motor neuron signs A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. Orphanet ICD-10:G12.2 ICD-11:8B60.0 MeSH:C566550 OMIM:602433 UMLS:C1865409 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357043 Amyotrophic lateral sclerosis type 4 ORPHA:357043 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566550 E (Exact mapping: the two concepts are equivalent) OMIM:602433 E (Exact mapping: the two concepts are equivalent) UMLS:C1865409 E (Exact mapping: the two concepts are equivalent) Serine deficiency Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms). Orphanet UMLS:C5680148 Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35705 Neurometabolic disorder due to serine deficiency Category ORPHA:35705 UMLS:C5680148 E (Exact mapping: the two concepts are equivalent) 11q12.1 FLJ22794 KIAA1895 ClinVar:FAM111A Ensembl:ENSG00000166801 Genatlas:FAM111A HGNC:24725 OMIM:615292 SwissProt:Q96PZ2 FAM111A FAM111 trypsin like peptidase A ARCL2A A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Orphanet ICD-10:Q82.8 ICD-11:LD28.2 MeSH:C562632 OMIM:219200 OMIM:278250 UMLS:C0268355 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A ORPHA:357058 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562632 E (Exact mapping: the two concepts are equivalent) OMIM:219200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278250 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268355 E (Exact mapping: the two concepts are equivalent) Glutaric aciduria type 3 Glutaryl-CoA oxidase deficiency A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype. Orphanet ICD-10:E72.3 ICD-11:5C50.E0 MeSH:C562818 OMIM:231690 UMLS:C0342873 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35706 Glutaric acidemia type 3 ORPHA:35706 ICD-10:E72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562818 E (Exact mapping: the two concepts are equivalent) OMIM:231690 E (Exact mapping: the two concepts are equivalent) UMLS:C0342873 E (Exact mapping: the two concepts are equivalent) ARCL2, progeroid type ARCL2B Autosomal recessive cutis laxa type 2, progeroid type A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. Orphanet ICD-10:Q82.8 ICD-11:LD28.2 MeSH:C567855 OMIM:612940 UMLS:C2751987 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357064 Autosomal recessive cutis laxa type 2B ORPHA:357064 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567855 E (Exact mapping: the two concepts are equivalent) OMIM:612940 E (Exact mapping: the two concepts are equivalent) UMLS:C2751987 E (Exact mapping: the two concepts are equivalent) ARCL2, Debré type ARCL2, classic type Autosomal recessive cutis laxa type 2, Debré type ICD-10:Q82.8 OMIM:219200 OMIM:617402 OMIM:617403 UMLS:C5679922 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype ORPHA:357074 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:219200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617402 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617403 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679922 E (Exact mapping: the two concepts are equivalent) AADC deficiency A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). Orphanet ICD-10:G24.8 ICD-11:5C59.00 MeSH:C537437 MedDRA:10084110 OMIM:608643 UMLS:C1291564 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 140.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35708 Aromatic L-amino acid decarboxylase deficiency ORPHA:35708 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537437 E (Exact mapping: the two concepts are equivalent) MedDRA:10084110 E (Exact mapping: the two concepts are equivalent) OMIM:608643 E (Exact mapping: the two concepts are equivalent) UMLS:C1291564 E (Exact mapping: the two concepts are equivalent) SGLT1 deficiency A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period. Orphanet ICD-10:E74.3 ICD-11:5C61.0 MeSH:C562602 MedDRA:10066388 OMIM:606824 UMLS:C0268186 Autosomal recessive Infancy Neonatal France AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35710 Glucose-galactose malabsorption ORPHA:35710 ICD-10:E74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562602 E (Exact mapping: the two concepts are equivalent) MedDRA:10066388 E (Exact mapping: the two concepts are equivalent) OMIM:606824 E (Exact mapping: the two concepts are equivalent) UMLS:C0268186 E (Exact mapping: the two concepts are equivalent) ATOS Arterial TOS Arterial cervical rib syndrome Arterial costoclavicular syndrome Arterial hyperabduction syndrome Arterial scalenus anticus syndrome Arterial thoracic outlet compression syndrome A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia. Orphanet ICD-10:G54.0 UMLS:C1956395 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357107 Arterial thoracic outlet syndrome Clinical subtype ORPHA:357107 ICD-10:G54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1956395 E (Exact mapping: the two concepts are equivalent) Effort subclavian vein thrombosis Paget-Schrotter disease VTOS Venous TOS Venous cervical rib syndrome Venous costoclavicular syndrome Venous hyperabduction syndrome Venous scalenus anticus syndrome Venous thoracic outlet compression syndrome Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis. Orphanet ICD-10:G54.0 UMLS:C1956396 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357131 Venous thoracic outlet syndrome Clinical subtype ORPHA:357131 ICD-10:G54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1956396 E (Exact mapping: the two concepts are equivalent) OSMF Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment. Orphanet ICD-10:K13.5 ICD-11:DA02.2 MeSH:D009914 MedDRA:10031023 UMLS:C0029172 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357154 Oral submucous fibrosis ORPHA:357154 ICD-10:K13.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DA02.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009914 E (Exact mapping: the two concepts are equivalent) MedDRA:10031023 E (Exact mapping: the two concepts are equivalent) UMLS:C0029172 E (Exact mapping: the two concepts are equivalent) Macroblepharon-ectropion-hypertelorism-macrostomia syndrome Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma. Orphanet ICD-10:Q87.0 OMIM:602562 UMLS:C4750958 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602562 E (Exact mapping: the two concepts are equivalent) UMLS:C4750958 E (Exact mapping: the two concepts are equivalent) Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. Orphanet ICD-10:Q87.8 OMIM:615162 UMLS:C4750957 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome ORPHA:357175 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615162 E (Exact mapping: the two concepts are equivalent) UMLS:C4750957 E (Exact mapping: the two concepts are equivalent) 7p22.1 TRIAD3 UBCE7IP1 ZIN ClinVar:RNF216 Ensembl:ENSG00000011275 Genatlas:RNF216 HGNC:21698 OMIM:609948 Reactome:Q9NWF9 SwissProt:Q9NWF9 RNF216 ring finger protein 216 Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes. Orphanet ICD-10:Q82.8 ICD-11:EE7Y UMLS:C4707327 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357220 Primary essential cutis verticis gyrata ORPHA:357220 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707327 E (Exact mapping: the two concepts are equivalent) A rare genetic dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy). Orphanet ICD-10:Q82.8 ICD-11:EE7Y OMIM:219300 UMLS:C4755295 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357225 Primary non-essential cutis verticis gyrata ORPHA:357225 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:219300 E (Exact mapping: the two concepts are equivalent) UMLS:C4755295 E (Exact mapping: the two concepts are equivalent) 3p22.1 37LRP LRP SA p40 uS2 ClinVar:RPSA Ensembl:ENSG00000168028 Genatlas:RPSA HGNC:6502 OMIM:150370 Reactome:P08865 SwissProt:P08865 RPSA ribosomal protein SA CID due to CARD11 deficiency Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency A rare non-severe combined immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections. Orphanet ICD-10:D81.2 OMIM:615206 UMLS:C4749949 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357237 Combined immunodeficiency due to CARD11 deficiency ORPHA:357237 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615206 E (Exact mapping: the two concepts are equivalent) UMLS:C4749949 E (Exact mapping: the two concepts are equivalent) CID due to IL21R deficiency Combined immunodeficiency due to interleukin 21 receptor deficiency A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection. Orphanet ICD-10:D81.8 OMIM:615207 UMLS:C5191307 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357329 Combined immunodeficiency due to IL21R deficiency ORPHA:357329 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615207 E (Exact mapping: the two concepts are equivalent) UMLS:C5191307 E (Exact mapping: the two concepts are equivalent) Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome Wahab syndrome A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet. Orphanet ICD-10:Q87.2 OMIM:615170 UMLS:C3554611 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ORPHA:357332 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615170 E (Exact mapping: the two concepts are equivalent) UMLS:C3554611 E (Exact mapping: the two concepts are equivalent) Ectasic coloboma Morning glory syndrome A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies. Orphanet ICD-10:Q14.2 ICD-11:LA13.7Y MedDRA:10027974 OMIM:120430 UMLS:C3554721 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35737 Morning glory disc anomaly ORPHA:35737 ICD-10:Q14.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10027974 E (Exact mapping: the two concepts are equivalent) OMIM:120430 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3554721 E (Exact mapping: the two concepts are equivalent) 16p12.1 CD360 ClinVar:IL21R Ensembl:ENSG00000103522 Genatlas:IL21R HGNC:6006 IUPHAR:1703 OMIM:605383 SwissProt:Q9HBE5 IL21R interleukin 21 receptor 11p15.4 CARS1 Cysteine tRNA ligase 1, cytoplasmic cysteine tRNA ligase 1, cytoplasmic ClinVar:CARS Ensembl:ENSG00000110619 Genatlas:CARS HGNC:1493 OMIM:123859 Reactome:P49589 SwissProt:P49589 CARS1 cysteinyl-tRNA synthetase 1 19p13.12-p13.11 ClinVar:TPM4 Ensembl:ENSG00000167460 Genatlas:TPM4 HGNC:12013 OMIM:600317 Reactome:P67936 SwissProt:P67936 TPM4 tropomyosin 4 A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms. Orphanet UMLS:C3496337 All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357502 Idiopathic nephrotic syndrome Clinical group ORPHA:357502 UMLS:C3496337 E (Exact mapping: the two concepts are equivalent) UMLS:C5680986 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=357506 Genetic non-syndromic renal or urinary tract malformation Category ORPHA:357506 UMLS:C5680986 E (Exact mapping: the two concepts are equivalent) 11p11.2 FLJ12827 ClinVar:ZNF408 Ensembl:ENSG00000175213 Genatlas:ZNF408 HGNC:20041 OMIM:616454 Reactome:Q9H9D4 SwissProt:Q9H9D4 ZNF408 zinc finger protein 408 15q23 MKLP-1 MKLP1 ClinVar:KIF23 Ensembl:ENSG00000137807 Genatlas:KIF23 HGNC:6392 OMIM:605064 Reactome:Q02241 SwissProt:Q02241 KIF23 kinesin family member 23 10q11.21 KIAA0187 ClinVar:BMS1 Ensembl:ENSG00000165733 Genatlas:BMS1 HGNC:23505 OMIM:611448 Reactome:Q14692 SwissProt:Q14692 BMS1 BMS1 ribosome biogenesis factor 15q26.3 WINS1 ClinVar:LINS1 Ensembl:ENSG00000140471 Genatlas:LINS1 HGNC:30922 OMIM:610350 SwissProt:Q8NG48 LINS1 lines homolog 1 A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. Orphanet ICD-10:N15.8 ICD-11:5C64.41 MeSH:D053579 MedDRA:10062906 OMIM:263800 UMLS:C0268450 Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=358 Gitelman syndrome ORPHA:358 ICD-10:N15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053579 E (Exact mapping: the two concepts are equivalent) MedDRA:10062906 E (Exact mapping: the two concepts are equivalent) OMIM:263800 E (Exact mapping: the two concepts are equivalent) UMLS:C0268450 E (Exact mapping: the two concepts are equivalent) MOGCT Malignant ovarian germ cell tumor Ovarian germ cell cancer Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. Orphanet ICD-11:2C73.Y MeSH:C562841 MedDRA:10061893 OMIM:603737 UMLS:C0346180 Unknown Adolescent Adult Childhood Elderly Infancy Austria AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.093 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.157 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 2.3 AND has_lifetime_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.062 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.085 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.081 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.095 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.126 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.061 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.064 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.141 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.064 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35807 Malignant germ cell tumor of ovary Category ORPHA:35807 ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562841 E (Exact mapping: the two concepts are equivalent) MedDRA:10061893 E (Exact mapping: the two concepts are equivalent) OMIM:603737 E (Exact mapping: the two concepts are equivalent) UMLS:C0346180 E (Exact mapping: the two concepts are equivalent) Malignant ovarian SCST Malignant ovarian sex cord-stromal tumor Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. Orphanet UMLS:C1334609 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.102 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.367 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.152 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.314 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.296 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.069 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.401 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.236 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.094 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.093 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.232 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.212 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.073 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35808 Malignant sex cord stromal tumor of ovary Category ORPHA:35808 UMLS:C1334609 E (Exact mapping: the two concepts are equivalent) 2q14.2 STMP3 TSAP6 dudlin-2 ferrireductase ClinVar:STEAP3 Ensembl:ENSG00000115107 Genatlas:STEAP3 HGNC:24592 OMIM:609671 Reactome:Q658P3 SwissProt:Q658P3 STEAP3 STEAP3 metalloreductase 16p11.2 CD11b MAC-1 complement component 3 receptor 3 subunit macrophage-1 antigen alpha subunit ClinVar:ITGAM Ensembl:ENSG00000169896 Genatlas:ITGAM HGNC:6149 IUPHAR:2452 OMIM:120980 Reactome:P11215 SwissProt:P11215 ITGAM integrin subunit alpha M Xp11.23 UDP-Gal-Tr UDP-galactose translocator UGAT UGT UGT1 UGT2 UGTL ClinVar:SLC35A2 Ensembl:ENSG00000102100 Genatlas:SLC35A2 HGNC:11022 IUPHAR:1139 OMIM:314375 Reactome:P78381 SwissProt:P78381 SLC35A2 solute carrier family 35 member A2 22q11.21 CIC CTP Tricarboxylate transport protein, mitochondrial citrate isocitrate carrier citrate transport protein ClinVar:SLC25A1 Ensembl:ENSG00000100075 Genatlas:SLC25A1 HGNC:10979 IUPHAR:1051 OMIM:190315 Reactome:P53007 SwissProt:P53007 SLC25A1 solute carrier family 25 member 1 10q21.2 ankyrin-3, node of Ranvier ankyrin-G ClinVar:ANK3 Ensembl:ENSG00000151150 Genatlas:ANK3 HGNC:494 OMIM:600465 Reactome:Q12955 SwissProt:Q12955 ANK3 ankyrin 3 4p15.33 ClinVar:RAB28 Ensembl:ENSG00000157869 Genatlas:RAB28 HGNC:9768 OMIM:612994 Reactome:P51157 SwissProt:P51157 RAB28 RAB28, member RAS oncogene family 3p22.1 NEM8 SRYP Sarcosynapsin nemaline myopathy type 8 sarcosynapsin ClinVar:KLHL40 Ensembl:ENSG00000157119 Genatlas:KLHL40 HGNC:30372 OMIM:615340 SwissProt:Q2TBA0 KLHL40 kelch like family member 40 12q13.3 GD2 synthase, GM2 synthase beta1-4GalNAc-T ClinVar:B4GALNT1 Ensembl:ENSG00000135454 Genatlas:B4GALNT1 HGNC:4117 OMIM:601873 Reactome:Q00973 SwissProt:Q00973 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 Familial megaloblastic anemia Selective cobalamin malabsorption with proteinuria Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. Orphanet ICD-10:D51.1 ICD-11:3A01.Y MeSH:C538556 OMIM:261100 OMIM:618882 UMLS:C4551825 Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35858 Imerslund-Gräsbeck syndrome ORPHA:35858 ICD-10:D51.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A01.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538556 E (Exact mapping: the two concepts are equivalent) OMIM:261100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618882 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551825 E (Exact mapping: the two concepts are equivalent) 1p36.32 KIAA1675 KMT8F MDS1/EVI1-like MEL1 MGC166915 PFM13 PR-domain zinc finger protein 16 Transcription factor MEL1 transcription factor MEL1 ClinVar:PRDM16 Ensembl:ENSG00000142611 Genatlas:PRDM16 HGNC:14000 OMIM:605557 Reactome:Q9HAZ2 SwissProt:Q9HAZ2 PRDM16 PR/SET domain 16 1q22 GTP-binding protein Roc1 MGC125864 MGC125865 RIBB ROC1 Ric-like, expressed in many tissues ClinVar:RIT1 Ensembl:ENSG00000143622 Genatlas:RIT1 HGNC:10023 OMIM:609591 Reactome:Q92963 SwissProt:Q92963 RIT1 Ras like without CAAX 1 15q21.3 CD156C CD156c HsT18717 MADM kuz ClinVar:ADAM10 Ensembl:ENSG00000137845 Genatlas:ADAM10 HGNC:188 IUPHAR:1658 OMIM:602192 Reactome:O14672 SwissProt:O14672 ADAM10 ADAM metallopeptidase domain 10 6q22.1 DS-Epi1 DSEPI ClinVar:DSE Ensembl:ENSG00000111817 Genatlas:DSE HGNC:21144 OMIM:605942 Reactome:Q9UL01 SwissProt:Q9UL01 DSE dermatan sulfate epimerase 10p12.31 AF10 ClinVar:MLLT10 Ensembl:ENSG00000078403 Genatlas:MLLT10 HGNC:16063 OMIM:602409 Reactome:P55197 SwissProt:P55197 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor 5q35.3 Heterogeneous nuclear ribonucleoprotein H hnRNPH ClinVar:HNRNPH1 Ensembl:ENSG00000169045 Genatlas:HNRNPH1 HGNC:5041 OMIM:601035 Reactome:P31943 SwissProt:P31943 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 Xp11.4 CAP-Rf DBX DDX14 HLP2 Helicase-like protein 2 ClinVar:DDX3X Ensembl:ENSG00000215301 Genatlas:DDX3X HGNC:2745 OMIM:300160 Reactome:O00571 SwissProt:O00571 DDX3X DEAD-box helicase 3 X-linked HI/HA syndrome A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. Orphanet ICD-10:E72.8 ICD-11:5C50.AY MeSH:C538375 OMIM:606762 UMLS:C1847555 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35878 Hyperinsulinism-hyperammonemia syndrome ORPHA:35878 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.AY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538375 E (Exact mapping: the two concepts are equivalent) OMIM:606762 E (Exact mapping: the two concepts are equivalent) UMLS:C1847555 E (Exact mapping: the two concepts are equivalent) A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication. Orphanet ICD-10:T40.0 ICD-10:T40.1 ICD-10:T40.2 ICD-11:6C43.3 UMLS:C0029100 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35889 Acute opioid intoxication ORPHA:35889 ICD-10:T40.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:T40.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:T40.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:6C43.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0029100 E (Exact mapping: the two concepts are equivalent) Hereditary glaucoma A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. Orphanet MeSH:C580055 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=359 Pediatric-onset glaucoma of genetic origin Category ORPHA:359 MeSH:C580055 E (Exact mapping: the two concepts are equivalent) F5F8D FV and FVIII combined deficiency A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms. Orphanet ICD-10:D68.8 ICD-11:3B14.Z MeSH:C565577 OMIM:227300 OMIM:227310 OMIM:613625 UMLS:C1856883 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35909 Combined deficiency of factor V and factor VIII ORPHA:35909 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565577 E (Exact mapping: the two concepts are equivalent) OMIM:227300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:227310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613625 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1856883 E (Exact mapping: the two concepts are equivalent) A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy. Orphanet ICD-11:LA05.50 MeSH:D065706 MedDRA:10073489 UMLS:C0266464 Autosomal dominant Autosomal recessive Not applicable X-linked dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35981 Polymicrogyria Clinical group ORPHA:35981 ICD-11:LA05.50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065706 E (Exact mapping: the two concepts are equivalent) MedDRA:10073489 E (Exact mapping: the two concepts are equivalent) UMLS:C0266464 E (Exact mapping: the two concepts are equivalent) ACS A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Orphanet ICD-10:Q04.0 ICD-11:LD2F.1Y MeSH:D055673 MedDRA:10083865 OMIM:200990 UMLS:C0796147 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36 Acrocallosal syndrome ORPHA:36 ICD-10:Q04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D055673 E (Exact mapping: the two concepts are equivalent) MedDRA:10083865 E (Exact mapping: the two concepts are equivalent) OMIM:200990 E (Exact mapping: the two concepts are equivalent) UMLS:C0796147 E (Exact mapping: the two concepts are equivalent) GBM Glioblastoma multiforme Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification). Orphanet ICD-10:C71.9 ICD-11:2A00.00 MeSH:D005909 MedDRA:10018336 OMIM:137800 OMIM:613029 UMLS:C1621958 Multigenic/multifactorial Not applicable All ages Croatia AND has_annual_incidence_average_value : 4.2 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 2.52 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 3.7 AND has_annual_incidence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=360 Glioblastoma ORPHA:360 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005909 E (Exact mapping: the two concepts are equivalent) MedDRA:10018336 E (Exact mapping: the two concepts are equivalent) OMIM:137800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613029 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1621958 E (Exact mapping: the two concepts are equivalent) 20q11.22 KIAA1512 MHC14 MYH14 dJ756N5.1 lncMYH7b ClinVar:MYH7B Ensembl:ENSG00000078814 Genatlas:MYH7B HGNC:15906 OMIM:609928 Reactome:A7E2Y1 SwissProt:A7E2Y1 MYH7B myosin heavy chain 7B 19p13.3 FBH FBH2 FHH2 ClinVar:GNA11 Ensembl:ENSG00000088256 Genatlas:GNA11 HGNC:4379 OMIM:139313 Reactome:P29992 SwissProt:P29992 GNA11 G protein subunit alpha 11 15q11.2 MGC88288 RNF63 ZFP127 zinc finger protein 127 ClinVar:MKRN3 Ensembl:ENSG00000179455 Genatlas:MKRN3 HGNC:7114 OMIM:603856 Reactome:Q13064 SwissProt:Q13064 MKRN3 makorin ring finger protein 3 17q21.2 MAD7 MXD7 bHLHd13 ClinVar:MLX Ensembl:ENSG00000108788 Genatlas:MLX HGNC:11645 OMIM:602976 Reactome:Q9UH92 SwissProt:Q9UH92 MLX MAX dimerization protein MLX 12p13.31 ClinVar:C1R Ensembl:ENSG00000159403 Genatlas:C1R HGNC:1246 IUPHAR:2334 OMIM:613785 Reactome:P00736 SwissProt:P00736 C1R complement C1r 10p12.1 CILD23 DKFZP434P1735 FLJ10376 FLJ10817 gudu ClinVar:ARMC4 Ensembl:ENSG00000169126 Genatlas:ARMC4 HGNC:25583 OMIM:615408 SwissProt:Q5T2S8 ODAD2 outer dynein arm docking complex subunit 2 15q21.3 CILD25 EKN1 FLJ37882 dynein, axonemal, assembly factor 4 pf23 ClinVar:DYX1C1 Ensembl:ENSG00000256061 Genatlas:DYX1C1 HGNC:21493 OMIM:608706 Reactome:Q8WXU2 SwissProt:Q8WXU2 DNAAF4 dynein axonemal assembly factor 4 21q22.3 CILD24 FLJ32753 RSP44 RSPH10A meichroacidin ClinVar:RSPH1 Ensembl:ENSG00000160188 Genatlas:RSPH1 HGNC:12371 OMIM:609314 SwissProt:Q8WYR4 RSPH1 radial spoke head component 1 3p21.31 BLU CILD22 Ciliary dyskinesia, primary, 22 DNAAF7 dynein axonemal assembly factor 7 tumor suppressor BLU ClinVar:ZMYND10 Ensembl:ENSG00000004838 Genatlas:ZMYND10 HGNC:19412 OMIM:607070 Reactome:O75800 SwissProt:O75800 ZMYND10 zinc finger MYND-type containing 10 10q24.32 FBXW1A Fwd1 bTrCP bTrCP1 beta-TrCP1 betaTrCP ClinVar:BTRC Ensembl:ENSG00000166167 Genatlas:BTRC HGNC:1144 OMIM:603482 Reactome:Q9Y297 SwissProt:Q9Y297 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase 2p23.3 K2p3.1 TASK TASK-1 TASK1 TWIK-related acid-sensitive K+ 1 ClinVar:KCNK3 Ensembl:ENSG00000171303 Genatlas:KCNK3 HGNC:6278 IUPHAR:515 OMIM:603220 Reactome:O14649 SwissProt:O14649 KCNK3 potassium two pore domain channel subfamily K member 3 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. Orphanet ICD-10:E27.1 ICD-11:5A74.Y MedDRA:10082603 OMIM:202200 OMIM:202355 OMIM:607398 OMIM:609197 OMIM:614736 OMIM:617825 UMLS:C4054695 Autosomal recessive Childhood Infancy Ireland AND has_point_prevalence_average_value : 0.4953 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=361 Familial glucocorticoid deficiency ORPHA:361 ICD-10:E27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10082603 E (Exact mapping: the two concepts are equivalent) OMIM:202200 E (Exact mapping: the two concepts are equivalent) OMIM:202355 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607398 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609197 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614736 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617825 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4054695 E (Exact mapping: the two concepts are equivalent) 9q31.1 CHN CSMF MINOR NOR1 ClinVar:NR4A3 Ensembl:ENSG00000119508 Genatlas:NR4A3 HGNC:7982 IUPHAR:631 OMIM:600542 Reactome:Q92570 SwissProt:Q92570 NR4A3 nuclear receptor subfamily 4 group A member 3 17q12 Npl3 RBP56 hTAFII68 ClinVar:TAF15 Ensembl:ENSG00000270647 Genatlas:TAF15 HGNC:11547 OMIM:601574 Reactome:Q92804 SwissProt:Q92804 TAF15 TATA-box binding protein associated factor 15 3p21.31 KIAA1851 mannose-1-phosphate guanyltransferase beta ClinVar:GMPPB Ensembl:ENSG00000173540 Genatlas:GMPPB HGNC:22932 OMIM:615320 Reactome:Q9Y5P6 SwissProt:Q9Y5P6 GMPPB GDP-mannose pyrophosphorylase B 15q26.1 DKFZp547I1315 DKFZp686E01200 DKFZp781D1727 FLJ38614 ClinVar:CHD2 Ensembl:ENSG00000173575 Genatlas:CHD2 HGNC:1917 OMIM:602119 SwissProt:O14647 CHD2 chromodomain helicase DNA binding protein 2 11q23.3 ClinVar:SCN2B Ensembl:ENSG00000149575 Genatlas:SCN2B HGNC:10589 OMIM:601327 Reactome:O60939 SwissProt:O60939 SCN2B sodium voltage-gated channel beta subunit 2 9q22.33 FLJ36928 NPHP16 ClinVar:ANKS6 Ensembl:ENSG00000165138 Genatlas:ANKS6 HGNC:26724 OMIM:615370 SwissProt:Q68DC2 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 10q22.1 FLJ25162 ClinVar:STOX1 Ensembl:ENSG00000165730 Genatlas:STOX1 HGNC:23508 OMIM:609397 SwissProt:Q6ZVD7 STOX1 storkhead box 1 NON RARE IN EUROPE: Favism NON RARE IN EUROPE: G6PD deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:D55.0 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency ORPHA:362 ICD-10:D55.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:BD92.0 MeSH:D008201 MedDRA:10025213 UMLS:C0024215 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36204 Intestinal lymphangiectasia Clinical group ORPHA:36204 ICD-11:BD92.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008201 E (Exact mapping: the two concepts are equivalent) MedDRA:10025213 E (Exact mapping: the two concepts are equivalent) UMLS:C0024215 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inflammatory bowel disease OBSOLETE: Collagenous colitis ORPHA:36205 Bacterial TSS Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with <i>Staphylococcus aureus</i> in staphylococcal TSS (see this term) or <i>Streptococcus pyogenes</i> in streptococcal TSS (see this term). Orphanet ICD-10:A48.3 ICD-11:1C45 MedDRA:10044248 UMLS:C0600327 Not applicable All ages Worldwide AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36234 Bacterial toxic-shock syndrome ORPHA:36234 ICD-10:A48.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C45 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10044248 E (Exact mapping: the two concepts are equivalent) UMLS:C0600327 E (Exact mapping: the two concepts are equivalent) A rare bacterial infectious disease characterized by staphylococcal epidermolytic toxin-mediated scarlatiniform exanthema accentuated in the flexural areas, as well as fever and affection of the general condition. The exanthema progresses to desquamation in large flaps, while blistering is not observed. Enanthema, strawberry tongue or palatal petechiae are absent. The condition has mainly been reported in children and young adults. Orphanet ICD-10:A38 ICD-11:EA50.3 MedDRA:10039587 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36235 Staphylococcal scarlet fever ORPHA:36235 ICD-10:A38 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA50.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10039587 E (Exact mapping: the two concepts are equivalent) Generalized exfoliative disease SSSS A rare staphylococcal toxemia caused by epidermolytic toxins of <i>Staphylococcus aureus</i> and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants. Orphanet ICD-10:L00 ICD-11:EA50.2 MeSH:D013206 MedDRA:10041929 UMLS:C0038165 All ages Germany AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36236 Staphylococcal scalded skin syndrome ORPHA:36236 ICD-10:L00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EA50.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013206 E (Exact mapping: the two concepts are equivalent) MedDRA:10041929 E (Exact mapping: the two concepts are equivalent) UMLS:C0038165 E (Exact mapping: the two concepts are equivalent) A rare, acquired, typically benign, bacterial infectious disease caused by <i>Staphylococcus aureus</i> characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated. Orphanet ICD-10:L01.0 ICD-11:1B72.0 MedDRA:10006563 UMLS:C1542647 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36237 Bullous impetigo ORPHA:36237 ICD-10:L01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1B72.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10006563 E (Exact mapping: the two concepts are equivalent) UMLS:C1542647 E (Exact mapping: the two concepts are equivalent) Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. Orphanet ICD-10:J15.2 UMLS:C4706659 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36238 Staphylococcal necrotizing pneumonia ORPHA:36238 ICD-10:J15.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706659 E (Exact mapping: the two concepts are equivalent) 6p21.32 ClinVar:HLA-DPB1 Ensembl:ENSG00000223865 Genatlas:HLA-DPB1 HGNC:4940 OMIM:142858 Reactome:P04440 SwissProt:P04440 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 Thromboangiitis obliterans A rare systemic disease characterized by inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease with thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities. Orphanet ICD-10:I73.1 ICD-11:4A44.8 MeSH:D013919 MedDRA:10043540 OMIM:211480 UMLS:C0040021 Not applicable Adult Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36258 Buerger disease ORPHA:36258 ICD-10:I73.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A44.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013919 E (Exact mapping: the two concepts are equivalent) MedDRA:10043540 E (Exact mapping: the two concepts are equivalent) OMIM:211480 E (Exact mapping: the two concepts are equivalent) UMLS:C0040021 E (Exact mapping: the two concepts are equivalent) Borrmann gastric cancer type 4 Linitis plastica of the stomach Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma. Orphanet ICD-10:C16.9 ICD-11:2B72.0 UMLS:C4303226 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36273 Gastric linitis plastica ORPHA:36273 ICD-10:C16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303226 E (Exact mapping: the two concepts are equivalent) 15q14 FLJ22851 HH114 MGC11326 ClinVar:C15orf41 Ensembl:ENSG00000186073 Genatlas:C15orf41 HGNC:26929 OMIM:615626 SwissProt:Q9Y2V0 CDIN1 CDAN1 interacting nuclease 1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:F50.0 NON RARE IN EUROPE: Anorexia nervosa ORPHA:36297 ICD-10:F50.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 4p16.3 Alpha-2-MRAP HBP44 ClinVar:LRPAP1 Ensembl:ENSG00000163956 Genatlas:LRPAP1 HGNC:6701 OMIM:104225 Reactome:P30533 SwissProt:P30533 LRPAP1 LDL receptor related protein associated protein 1 12q13.12 ClinVar:AQP5 Ensembl:ENSG00000161798 Genatlas:AQP5 HGNC:638 IUPHAR:692 OMIM:600442 Reactome:P55064 SwissProt:P55064 AQP5 aquaporin 5 16q13 BART BART1 binder of Arl2 ClinVar:ARL2BP Ensembl:ENSG00000102931 Genatlas:ARL2BP HGNC:17146 OMIM:615407 Reactome:Q9Y2Y0 SwissProt:Q9Y2Y0 ARL2BP ADP ribosylation factor like GTPase 2 binding protein UMLS:C0158632 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363189 Congenital anomaly of the great veins Category ORPHA:363189 UMLS:C0158632 E (Exact mapping: the two concepts are equivalent) MeSH:D012303 MedDRA:10081894 UMLS:C0035639 Worldwide AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363203 Ring chromosome syndrome Category ORPHA:363203 MeSH:D012303 E (Exact mapping: the two concepts are equivalent) MedDRA:10081894 E (Exact mapping: the two concepts are equivalent) UMLS:C0035639 E (Exact mapping: the two concepts are equivalent) UMLS:C5680983 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363245 Genetic progeroid syndrome Category ORPHA:363245 UMLS:C5680983 E (Exact mapping: the two concepts are equivalent) MeSH:D000072661 UMLS:C4277690 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363250 Ciliopathy Category ORPHA:363250 MeSH:D000072661 E (Exact mapping: the two concepts are equivalent) UMLS:C4277690 E (Exact mapping: the two concepts are equivalent) 3p25.3 ARHGAP14 KIAA0411 MEGAP WRP ClinVar:SRGAP3 Ensembl:ENSG00000196220 Genatlas:SRGAP3 HGNC:19744 OMIM:606525 Reactome:O43295 SwissProt:O43295 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 9q21.33 BDNF/NT-3 growth factors receptor TRKB ClinVar:NTRK2 Ensembl:ENSG00000148053 Genatlas:NTRK2 HGNC:8032 IUPHAR:1818 OMIM:600456 Reactome:Q16620 SwissProt:Q16620 NTRK2 neurotrophic receptor tyrosine kinase 2 OBSOLETE: Rare hereditary iron overload disease ORPHA:363266 8q24.3 UQCR4 ClinVar:CYC1 Ensembl:ENSG00000179091 Genatlas:CYC1 HGNC:2579 OMIM:123980 Reactome:P08574 SwissProt:P08574 CYC1 cytochrome c1 10q11.23-q21.1 PGK PKG PKG1 ClinVar:PRKG1 Ensembl:ENSG00000185532 Genatlas:PRKG1 HGNC:9414 IUPHAR:1492 OMIM:176894 Reactome:Q13976 SwissProt:Q13976 PRKG1 protein kinase cGMP-dependent 1 UMLS:C5680982 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363294 Genetic syndromic Pierre Robin syndrome Category ORPHA:363294 UMLS:C5680982 E (Exact mapping: the two concepts are equivalent) UMLS:C5680980 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363300 Genetic intractable diarrhea of infancy Category ORPHA:363300 UMLS:C5680980 E (Exact mapping: the two concepts are equivalent) UMLS:C5680981 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363306 Genetic intestinal disease due to fat malabsorption Category ORPHA:363306 UMLS:C5680981 E (Exact mapping: the two concepts are equivalent) 7q36.3 CFAP163 DIC6 FAP163 FLJ10300 ClinVar:WDR60 Ensembl:ENSG00000126870 Genatlas:WDR60 HGNC:21862 OMIM:615462 Reactome:Q8WVS4 SwissProt:Q8WVS4 DYNC2I1 dynein 2 intermediate chain 1 Familial intestinal polyposis UMLS:C2713443 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363314 Genetic intestinal polyposis Category ORPHA:363314 UMLS:C2713443 E (Exact mapping: the two concepts are equivalent) High myopia-sensorineural hearing loss syndrome High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. Orphanet ICD-10:H90.5 OMIM:221200 UMLS:C5679919 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363396 High myopia-sensorineural deafness syndrome ORPHA:363396 ICD-10:H90.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:221200 E (Exact mapping: the two concepts are equivalent) UMLS:C5679919 E (Exact mapping: the two concepts are equivalent) Severe neurodegenerative syndrome due to BSCL2 deficiency A rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Orphanet ICD-10:G31.8 OMIM:615924 UMLS:C4750956 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363400 Severe neurodegenerative syndrome with lipodystrophy ORPHA:363400 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615924 E (Exact mapping: the two concepts are equivalent) UMLS:C4750956 E (Exact mapping: the two concepts are equivalent) LCCS5 Lethal congenital contracture syndrome type 5 Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. Orphanet ICD-10:G71.2 OMIM:615368 UMLS:C4706410 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome ORPHA:363409 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615368 E (Exact mapping: the two concepts are equivalent) UMLS:C4706410 E (Exact mapping: the two concepts are equivalent) HBSL A rare genetic leukodystrophy characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Orphanet ICD-10:E75.2 OMIM:615281 UMLS:C4755254 Autosomal recessive Adolescent Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity ORPHA:363412 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615281 E (Exact mapping: the two concepts are equivalent) UMLS:C4755254 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. Orphanet ICD-10:Q87.2 MeSH:C536958 OMIM:605282 UMLS:C1854466 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363417 Temtamy preaxial brachydactyly syndrome ORPHA:363417 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536958 E (Exact mapping: the two concepts are equivalent) OMIM:605282 E (Exact mapping: the two concepts are equivalent) UMLS:C1854466 E (Exact mapping: the two concepts are equivalent) IBA57 deficiency MMDS3 A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes. Orphanet ICD-10:E88.8 OMIM:615330 UMLS:C3809165 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363424 Multiple mitochondrial dysfunctions syndrome type 3 ORPHA:363424 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615330 E (Exact mapping: the two concepts are equivalent) UMLS:C3809165 E (Exact mapping: the two concepts are equivalent) A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. Orphanet ICD-10:G11.1 OMIM:614831 OMIM:616204 UMLS:C4706388 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614831 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616204 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706388 E (Exact mapping: the two concepts are equivalent) Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency SCAR18 A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. Orphanet ICD-10:G11.1 OMIM:616204 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Clinical subtype ORPHA:363432 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616204 E (Exact mapping: the two concepts are equivalent) 16q13 G-ALPHA-o ClinVar:GNAO1 Ensembl:ENSG00000087258 Genatlas:GNAO1 HGNC:4389 OMIM:139311 Reactome:P09471 SwissProt:P09471 GNAO1 G protein subunit alpha o1 BBIS Beaulieu-Boycott-Innes syndrome A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent. Orphanet ICD-10:Q87.0 OMIM:613680 UMLS:C3150939 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ORPHA:363444 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613680 E (Exact mapping: the two concepts are equivalent) UMLS:C3150939 E (Exact mapping: the two concepts are equivalent) Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy SMALED A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Orphanet ICD-10:G12.1 ICD-11:8B61.Y OMIM:158600 OMIM:615290 UMLS:C1834690 Autosomal dominant Adolescent Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 97.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy ORPHA:363447 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:158600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615290 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1834690 E (Exact mapping: the two concepts are equivalent) BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures SMALED2 ICD-10:G12.1 OMIM:615290 UMLS:C4747715 Autosomal dominant Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Etiological subtype ORPHA:363454 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615290 E (Exact mapping: the two concepts are equivalent) UMLS:C4747715 E (Exact mapping: the two concepts are equivalent) Testicular and paratesticular tumor UMLS:C5679920 Europe AND has_annual_incidence_average_value : 3.15 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 87.77 AND has_lifetime_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363472 Tumor of testis and paratestis Category ORPHA:363472 UMLS:C5679920 E (Exact mapping: the two concepts are equivalent) Adenocarcinoma of the paratestis A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain. Orphanet ICD-10:C63.0 ICD-10:C63.1 ICD-10:C63.2 ICD-10:C63.7 ICD-10:C63.8 UMLS:C5190800 Adult Austria AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.01 AND has_lifetime_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363478 Paratesticular adenocarcinoma ORPHA:363478 ICD-10:C63.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C63.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C63.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C63.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C63.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190800 E (Exact mapping: the two concepts are equivalent) Teratoma of the testis A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass. Orphanet ICD-10:C62.9 ICD-11:2C80.2 ICD-11:2F34 MeSH:C562472 MedDRA:10073120 OMIM:273300 UMLS:C0238451 Adolescent Adult Childhood Infancy Europe AND has_lifetime_prevalence_average_value : 0.04 AND has_lifetime_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363483 Testicular teratoma ORPHA:363483 ICD-10:C62.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F34 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562472 E (Exact mapping: the two concepts are equivalent) MedDRA:10073120 E (Exact mapping: the two concepts are equivalent) OMIM:273300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0238451 E (Exact mapping: the two concepts are equivalent) Testicular sex cord-stromal tumor A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors. Orphanet ICD-10:D40.1 UMLS:C3840076 Adolescent Adult Austria AND has_annual_incidence_average_value : 0.049 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.44 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363489 Sex cord-stromal tumor of testis ORPHA:363489 ICD-10:D40.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3840076 E (Exact mapping: the two concepts are equivalent) Non-dysgerminomatous germ cell tumor of testis Testicular non seminomatous germ cell tumor Testicular non-dysgerminomatous germ cell tumor A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components. Orphanet ICD-10:C62.1 OMIM:273300 UMLS:C2057625 Not applicable Adult Europe AND has_annual_incidence_average_value : 1.21 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 33.53 AND has_lifetime_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363494 Non-seminomatous germ cell tumor of testis ORPHA:363494 ICD-10:C62.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:273300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2057625 E (Exact mapping: the two concepts are equivalent) Testicular germ cell tumor MeSH:C563236 MedDRA:10075811 OMIM:273300 UMLS:C1336708 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363504 Germ cell tumor of testis Category ORPHA:363504 MeSH:C563236 E (Exact mapping: the two concepts are equivalent) MedDRA:10075811 E (Exact mapping: the two concepts are equivalent) OMIM:273300 E (Exact mapping: the two concepts are equivalent) UMLS:C1336708 E (Exact mapping: the two concepts are equivalent) Shaheen syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. Orphanet ICD-10:Q82.8 OMIM:615328 UMLS:C3809160 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ORPHA:363523 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615328 E (Exact mapping: the two concepts are equivalent) UMLS:C3809160 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis. Orphanet ICD-10:H50.8 OMIM:615286 UMLS:C4750838 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363528 Intellectual disability-strabismus syndrome ORPHA:363528 ICD-10:H50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615286 E (Exact mapping: the two concepts are equivalent) UMLS:C4750838 E (Exact mapping: the two concepts are equivalent) mtDNA depletion syndrome, hepatocerebrorenal form A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hypore&#64258;exia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia. Orphanet ICD-10:E88.8 ICD-11:5C53.20 OMIM:271245 UMLS:C5190602 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:271245 E (Exact mapping: the two concepts are equivalent) UMLS:C5190602 E (Exact mapping: the two concepts are equivalent) A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility. Orphanet ICD-10:E75.2 OMIM:615651 UMLS:C4554120 Autosomal recessive All ages Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema ORPHA:363540 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615651 E (Exact mapping: the two concepts are equivalent) UMLS:C4554120 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency LGMD2R This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy Autosomal recessive limb-girdle muscular dystrophy type 2R ORPHA:363543 AESD AIEF Acute infantile encephalopathy predominantly affecting the frontal lobes A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. Orphanet ICD-10:G40.4 UMLS:C4707658 Infancy Neonatal Worldwide AND has_cases/families_value : 283.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363549 Acute encephalopathy with biphasic seizures and late reduced diffusion ORPHA:363549 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707658 E (Exact mapping: the two concepts are equivalent) Bleeding disorder due to ADP platelet receptor P2Y12 defect P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Orphanet ICD-10:D69.8 OMIM:609821 UMLS:C5680149 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36355 Bleeding disorder due to P2Y12 defect ORPHA:36355 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609821 E (Exact mapping: the two concepts are equivalent) UMLS:C5680149 E (Exact mapping: the two concepts are equivalent) NORSE New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. Orphanet ICD-10:G41.8 UMLS:C4749462 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363558 New-onset refractory status epilepticus ORPHA:363558 ICD-10:G41.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749462 E (Exact mapping: the two concepts are equivalent) UMLS:C5680984 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363567 Acute encephalopathy with inflammation-mediated status epilepticus Clinical group ORPHA:363567 UMLS:C5680984 E (Exact mapping: the two concepts are equivalent) UMLS:C0262963 Europe AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363579 Extragonadal germ cell tumor Category ORPHA:363579 UMLS:C0262963 E (Exact mapping: the two concepts are equivalent) UMLS:C3899657 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363582 Gonadal germ cell tumor Category ORPHA:363582 UMLS:C3899657 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. Orphanet ICD-10:Q87.8 OMIM:615502 UMLS:C5680985 Autosomal dominant Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363611 CTCF-related neurodevelopmental disorder ORPHA:363611 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615502 E (Exact mapping: the two concepts are equivalent) UMLS:C5680985 E (Exact mapping: the two concepts are equivalent) LCPS LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. Orphanet ICD-10:E34.8 UMLS:C4750858 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363618 LMNA-related cardiocutaneous progeria syndrome ORPHA:363618 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750858 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2T GMPPB-related LGMD R19 LGMD type 2T LGMD2T Limb-girdle muscular dystrophy type 2T A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. Orphanet ICD-10:G71.2 OMIM:615352 UMLS:C4518000 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363623 GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615352 E (Exact mapping: the two concepts are equivalent) UMLS:C4518000 E (Exact mapping: the two concepts are equivalent) OBSOLETE: GMPPB-related CMD This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital muscular dystrophy due to dystroglycanopathy OBSOLETE: GMPPB-related congenital muscular dystrophy ORPHA:363629 MDP syndrome MDPL syndrome Mandibular hypoplasia-hearing loss-progeroid syndrome A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. Orphanet ICD-10:E34.8 OMIM:615381 UMLS:C3715192 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615381 E (Exact mapping: the two concepts are equivalent) UMLS:C3715192 E (Exact mapping: the two concepts are equivalent) XPDS A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. Orphanet ICD-10:G20 OMIM:300911 UMLS:C3806722 X-linked recessive Adolescent Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363654 X-linked parkinsonism-spasticity syndrome ORPHA:363654 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300911 E (Exact mapping: the two concepts are equivalent) UMLS:C3806722 E (Exact mapping: the two concepts are equivalent) Dup(20)(q11.2) 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. Orphanet ICD-10:Q93.5 UMLS:C4706257 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363659 20q11.2 microduplication syndrome ORPHA:363659 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706257 E (Exact mapping: the two concepts are equivalent) Premature aging syndrome, Penttinen type A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. Orphanet ICD-10:E34.8 OMIM:601812 UMLS:C1866182 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363665 Acroosteolysis-keloid-like lesions-premature aging syndrome ORPHA:363665 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601812 E (Exact mapping: the two concepts are equivalent) UMLS:C1866182 E (Exact mapping: the two concepts are equivalent) Distal monosomy 1q Monosomy 1qter Telomeric deletion 1q A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. Orphanet ICD-10:Q93.5 ICD-11:LD44.10 OMIM:612337 UMLS:C4273897 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36367 Distal deletion 1q syndrome ORPHA:36367 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612337 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4273897 E (Exact mapping: the two concepts are equivalent) 4p15.2 PGC-1alpha PGC1 PGC1A PPARAGCIa PPARgamma coactivator 1alpha ClinVar:PPARGC1A Ensembl:ENSG00000109819 Genatlas:PPARGC1A HGNC:9237 OMIM:604517 Reactome:Q9UBK2 SwissProt:Q9UBK2 PPARGC1A PPARG coactivator 1 alpha A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. Orphanet ICD-10:G71.2 OMIM:605637 UMLS:C5192594 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia ORPHA:363677 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5192594 E (Exact mapping: the two concepts are equivalent) Del(2)(p13.2) A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. Orphanet ICD-10:Q93.5 UMLS:C4749460 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363680 2p13.2 microdeletion syndrome ORPHA:363680 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749460 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Orphanet ICD-10:Q87.8 OMIM:615074 UMLS:C4750954 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ORPHA:363686 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615074 E (Exact mapping: the two concepts are equivalent) UMLS:C4750954 E (Exact mapping: the two concepts are equivalent) HUPRA syndrome A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia. Orphanet ICD-10:E88.8 OMIM:613845 UMLS:C3151209 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ORPHA:363694 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613845 E (Exact mapping: the two concepts are equivalent) UMLS:C3151209 E (Exact mapping: the two concepts are equivalent) Von Recklinghausen disease due to NF1 mutation or intragenic deletion ICD-10:Q85.0 OMIM:162200 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Etiological subtype ORPHA:363700 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:162200 E (Exact mapping: the two concepts are equivalent) Cantu craniofaciofrontodigital syndrome Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). Orphanet ICD-10:Q87.0 MeSH:C567298 OMIM:114620 UMLS:C2676032 Unknown Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363705 Craniofaciofrontodigital syndrome ORPHA:363705 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567298 E (Exact mapping: the two concepts are equivalent) OMIM:114620 E (Exact mapping: the two concepts are equivalent) UMLS:C2676032 E (Exact mapping: the two concepts are equivalent) SCA37 Spinocerebellar ataxia with altered vertical eye movements An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:615945 UMLS:C3889636 Autosomal dominant Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363710 Spinocerebellar ataxia type 37 ORPHA:363710 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615945 E (Exact mapping: the two concepts are equivalent) UMLS:C3889636 E (Exact mapping: the two concepts are equivalent) AxD type I An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. Orphanet ICD-10:G93.8 ICD-11:8A44.2 OMIM:203450 UMLS:C5679915 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363717 Alexander disease type I Clinical subtype ORPHA:363717 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:203450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679915 E (Exact mapping: the two concepts are equivalent) AxD type II An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. Orphanet ICD-10:G93.8 OMIM:203450 UMLS:C5679914 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363722 Alexander disease type II Clinical subtype ORPHA:363722 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:203450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679914 E (Exact mapping: the two concepts are equivalent) X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Orphanet ICD-10:D64.4 OMIM:300835 UMLS:C5190600 X-linked recessive All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 1.0 (Family(ies)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia ORPHA:363727 ICD-10:D64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300835 E (Exact mapping: the two concepts are equivalent) UMLS:C5190600 E (Exact mapping: the two concepts are equivalent) A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Orphanet ICD-10:Q87.8 OMIM:601794 UMLS:C4755253 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601794 E (Exact mapping: the two concepts are equivalent) UMLS:C4755253 E (Exact mapping: the two concepts are equivalent) Balint-Holmes syndrome Optic ataxia-gaze apraxia-simultanagnosia syndrome Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. Orphanet ICD-10:H51.8 ICD-11:9C82.4 MedDRA:10057375 UMLS:C4707368 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363746 Balint syndrome ORPHA:363746 ICD-10:H51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10057375 E (Exact mapping: the two concepts are equivalent) UMLS:C4707368 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Familial CAD OBSOLETE: Hereditary CAD OBSOLETE: Hereditary cervical artery dissection This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated spontaneous vertebral artery dissection OBSOLETE : Familial cervical artery dissection ORPHA:36382 COL4A-related brain small vessel disease with hemorrhage COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages. Orphanet ICD-10:I67.8 OMIM:175780 UMLS:C4755307 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36383 COL4A1/2-related familial vascular leukoencephalopathy ORPHA:36383 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:175780 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4755307 E (Exact mapping: the two concepts are equivalent) HSAN1 Hereditary sensory and autonomic neuropathy type I A rare slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances in some patients, autosomal dominant inheritance, and juvenile or adulthood disease onset. Orphanet ICD-10:G60.8 ICD-11:8C21.0 OMIM:162400 OMIM:613640 OMIM:613708 OMIM:615632 UMLS:C0020071 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36386 Hereditary sensory and autonomic neuropathy type 1 ORPHA:36386 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:162400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613640 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613708 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615632 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020071 E (Exact mapping: the two concepts are equivalent) GEFS+ Generalized epilepsy with febrile seizures-plus A rare familial epilepsy syndrome characterized by febrile, focal and generalized seizures, with a spectrum of phenotypes largely variable among different family members. Orphanet ICD-10:G40.3 ICD-11:8A61.2Y MeSH:C565808 OMIM:604233 OMIM:604403 OMIM:607681 OMIM:609800 OMIM:612279 OMIM:613060 OMIM:613828 OMIM:613863 OMIM:616172 OMIM:618482 UMLS:C3502809 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36387 Genetic epilepsy with febrile seizure plus ORPHA:36387 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565808 E (Exact mapping: the two concepts are equivalent) OMIM:604233 E (Exact mapping: the two concepts are equivalent) OMIM:604403 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607681 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612279 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613060 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613828 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613863 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616172 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618482 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3502809 E (Exact mapping: the two concepts are equivalent) PNS Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. Orphanet MeSH:D020361 MedDRA:10072106 UMLS:C0751911 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36388 Paraneoplastic neurologic syndrome Category ORPHA:36388 MeSH:D020361 E (Exact mapping: the two concepts are equivalent) MedDRA:10072106 E (Exact mapping: the two concepts are equivalent) UMLS:C0751911 E (Exact mapping: the two concepts are equivalent) 19q13.11 GALNAC-4-ST1 GALNAC4ST-1 ClinVar:CHST8 Ensembl:ENSG00000124302 Genatlas:CHST8 HGNC:15993 OMIM:610190 Reactome:Q9H2A9 SwissProt:Q9H2A9 CHST8 carbohydrate sulfotransferase 8 Del(17)(q21.31) Monosomy 17q21.31 ICD-10:Q93.5 ICD-11:LD44.H0 MeSH:C566476 OMIM:610443 UMLS:C1864871 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_average_value : 1.82 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363958 17q21.31 microdeletion syndrome Etiological subtype ORPHA:363958 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.H0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566476 E (Exact mapping: the two concepts are equivalent) OMIM:610443 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1864871 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD24.GY OMIM:610443 UMLS:C5680974 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363965 Koolen-De Vries syndrome due to a point mutation Etiological subtype ORPHA:363965 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610443 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680974 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. Orphanet ICD-10:G31.8 UMLS:C4755252 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363969 Autosomal recessive cerebral atrophy ORPHA:363969 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755252 E (Exact mapping: the two concepts are equivalent) Adiposalgia Adipose tissue rheumatism Dercum disease Lipomatosis dolorosa A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity. Orphanet ICD-10:E88.2 ICD-11:EF02.1 MeSH:D000274 MedDRA:10001294 OMIM:103200 UMLS:C0001529 Autosomal dominant Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36397 Adiposis dolorosa ORPHA:36397 ICD-10:E88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF02.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000274 E (Exact mapping: the two concepts are equivalent) MedDRA:10001294 E (Exact mapping: the two concepts are equivalent) OMIM:103200 E (Exact mapping: the two concepts are equivalent) UMLS:C0001529 E (Exact mapping: the two concepts are equivalent) CBL syndrome Noonan syndrome-like disorder with JMML A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome. Orphanet ICD-10:C93.3 OMIM:613563 UMLS:C4016301 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972 ICD-10:C93.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613563 E (Exact mapping: the two concepts are equivalent) UMLS:C4016301 E (Exact mapping: the two concepts are equivalent) GCT of bone Osteoclastoma A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high. Orphanet ICD-10:D48.0 ICD-11:2F7B ICD-11:2F9B ICD-11:XH0492 ICD-11:XH4TC2 MeSH:D018212 UMLS:C0206638 Not applicable Adult Worldwide AND has_annual_incidence_average_value : 0.1404 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363976 Giant cell tumor of bone ORPHA:363976 ICD-10:D48.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F7B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F9B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH0492 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH4TC2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018212 E (Exact mapping: the two concepts are equivalent) UMLS:C0206638 E (Exact mapping: the two concepts are equivalent) CMT4B3 Charcot-Marie-Tooth disease with focally folded myelin Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). Orphanet ICD-10:G60.0 OMIM:615284 UMLS:C3695063 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363981 Charcot-Marie-Tooth disease type 4B3 ORPHA:363981 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615284 E (Exact mapping: the two concepts are equivalent) UMLS:C3695063 E (Exact mapping: the two concepts are equivalent) Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. Orphanet ICD-10:H35.5 MeSH:C565564 OMIM:228980 UMLS:C1856718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363989 Familial benign flecked retina ORPHA:363989 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565564 E (Exact mapping: the two concepts are equivalent) OMIM:228980 E (Exact mapping: the two concepts are equivalent) UMLS:C1856718 E (Exact mapping: the two concepts are equivalent) 15q26.3 microdeletion syndrome A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Orphanet ICD-10:Q87.8 OMIM:613195 OMIM:615023 UMLS:C5190986 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613195 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615023 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190986 E (Exact mapping: the two concepts are equivalent) NIHF Non-immune HF Non-immune fetal edema Non-immune fetal hydrops Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. Orphanet ICD-10:P83.2 ICD-11:KC41.1 OMIM:236750 UMLS:C0455988 Not applicable Antenatal Neonatal Thailand AND has_point_prevalence_average_value : 300.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_birth_prevalence_average_value : 42.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=363999 Non-immune hydrops fetalis Clinical subtype ORPHA:363999 ICD-10:P83.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KC41.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:236750 E (Exact mapping: the two concepts are equivalent) UMLS:C0455988 E (Exact mapping: the two concepts are equivalent) G6P deficiency GSD due to G6P deficiency GSD type 1 GSD type I Glycogen storage disease due to G6P deficiency Glycogen storage disease type 1 Glycogen storage disease type I Glycogenosis type 1 Glycogenosis type I Hepatorenal glycogenosis Von Gierke disease A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:D005953 MedDRA:10018464 OMIM:232200 OMIM:232220 OMIM:232240 UMLS:C0017920 Autosomal recessive Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364 Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005953 E (Exact mapping: the two concepts are equivalent) MedDRA:10018464 E (Exact mapping: the two concepts are equivalent) OMIM:232200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:232220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:232240 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0017920 E (Exact mapping: the two concepts are equivalent) IHF Immune HF Immune fetal edema Immune fetal hydrops Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. Orphanet ICD-10:P56.0 ICD-11:KA85.0 UMLS:C0455990 Not applicable Antenatal Neonatal United Kingdom AND has_birth_prevalence_average_value : 33.3 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364013 Immune hydrops fetalis Clinical subtype ORPHA:364013 ICD-10:P56.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA85.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0455990 E (Exact mapping: the two concepts are equivalent) A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle. Orphanet ICD-10:F72 ICD-11:LD90 OMIM:300699 UMLS:C5191041 X-linked recessive Infancy Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364028 X-linked intellectual disability due to GRIA3 mutations ORPHA:364028 ICD-10:F72 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300699 E (Exact mapping: the two concepts are equivalent) UMLS:C5191041 E (Exact mapping: the two concepts are equivalent) Systemic EBV+ T-cell LPD of childhood Systemic EBV-positive T-cell lymphoproliferative disease of childhood A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. Orphanet ICD-10:D47.9 UMLS:C4303422 Not applicable Childhood Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood ORPHA:364033 ICD-10:D47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303422 E (Exact mapping: the two concepts are equivalent) Angiocentric cutaneous T-cell lymphoma of childhood HVLL Hydroa-like cutaneous T-cell lymphoma A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported. Orphanet ICD-10:C84.5 ICD-11:2B0Y UMLS:C1708397 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364039 Hydroa vacciniforme-like lymphoma ORPHA:364039 ICD-10:C84.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1708397 E (Exact mapping: the two concepts are equivalent) ALK+ LBCL ALK+ large B-cell lymphoma A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. Orphanet ICD-10:C83.3 ICD-11:2A81.8 ICD-11:XH1EB9 UMLS:C1333294 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364043 ALK-positive large B-cell lymphoma ORPHA:364043 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A81.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH1EB9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1333294 E (Exact mapping: the two concepts are equivalent) EOSRD Early-onset severe retinal dystrophy SECORD Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. Orphanet ICD-10:H35.5 MeSH:C565741 UMLS:C1858080 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364055 Severe early-childhood-onset retinal dystrophy ORPHA:364055 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565741 E (Exact mapping: the two concepts are equivalent) UMLS:C1858080 E (Exact mapping: the two concepts are equivalent) A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Orphanet ICD-10:G40.4 MeSH:C567924 OMIM:308350 UMLS:C4552072 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364063 Infantile epileptic-dyskinetic encephalopathy ORPHA:364063 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567924 E (Exact mapping: the two concepts are equivalent) OMIM:308350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4552072 E (Exact mapping: the two concepts are equivalent) Anti-C1q vasculitis Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome McDuffie hypocomplementemic urticarial vasculitis McDuffie syndrome A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations. Orphanet ICD-10:M31.8 ICD-11:4A44.91 UMLS:C0343206 Autosomal recessive Not applicable Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36412 Hypocomplementemic urticarial vasculitis ORPHA:36412 ICD-10:M31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A44.91 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0343206 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Glioblastoma OBSOLETE: Brain stem tumor ORPHA:36414 A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. Orphanet ICD-10:Q66.8 UMLS:C4706298 Not applicable Adolescent Adult Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364198 Bipartite talus ORPHA:364198 ICD-10:Q66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706298 E (Exact mapping: the two concepts are equivalent) Dermatostomatitis, Stevens Johnson type A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving less than 10% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent. Orphanet ICD-10:L51.1 ICD-11:EB13.0 MeSH:D013262 MedDRA:10042033 OMIM:608579 UMLS:C0038325 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36426 Stevens-Johnson syndrome Clinical subtype ORPHA:36426 ICD-10:L51.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EB13.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013262 E (Exact mapping: the two concepts are equivalent) MedDRA:10042033 E (Exact mapping: the two concepts are equivalent) OMIM:608579 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0038325 E (Exact mapping: the two concepts are equivalent) 2p11.2 FLJ21977 ClinVar:ELMOD3 Ensembl:ENSG00000115459 Genatlas:ELMOD3 HGNC:26158 OMIM:615427 SwissProt:Q96FG2 ELMOD3 ELMO domain containing 3 16p13.3 MGC2655 fSAP35 functional spliceosome-associated protein 35 ClinVar:THOC6 Ensembl:ENSG00000131652 Genatlas:THOC6 HGNC:28369 OMIM:615403 Reactome:Q86W42 SwissProt:Q86W42 THOC6 THO complex subunit 6 15q26.3 MGC27091 ClinVar:CERS3 Ensembl:ENSG00000154227 Genatlas:CERS3 HGNC:23752 IUPHAR:2476 OMIM:615276 Reactome:Q8IU89 SwissProt:Q8IU89 CERS3 ceramide synthase 3 Primary osteodysplasia Primary skeletal dysplasia UMLS:C5679916 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364526 Primary bone dysplasia Category ORPHA:364526 UMLS:C5679916 E (Exact mapping: the two concepts are equivalent) Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments UMLS:C5679918 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Category ORPHA:364531 UMLS:C5679918 E (Exact mapping: the two concepts are equivalent) Primary osteodysplasia with micromelia Primary skeletal dysplasia with micromelia UMLS:C5679917 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364536 Primary bone dysplasia with micromelia Category ORPHA:364536 UMLS:C5679917 E (Exact mapping: the two concepts are equivalent) OPD spectrum disorder OPSD Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Orphanet MeSH:C567577 MedDRA:10084408 UMLS:C2748918 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364541 Otopalatodigital syndrome spectrum disorder Clinical group ORPHA:364541 MeSH:C567577 E (Exact mapping: the two concepts are equivalent) MedDRA:10084408 E (Exact mapping: the two concepts are equivalent) UMLS:C2748918 E (Exact mapping: the two concepts are equivalent) MeSH:D004413 UMLS:C0013393 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364559 Dysostosis Category ORPHA:364559 MeSH:D004413 E (Exact mapping: the two concepts are equivalent) UMLS:C0013393 E (Exact mapping: the two concepts are equivalent) 22q13.33 DENN/MADD domain containing 7A DENND7A MTMR5 myotubularin related 5 ClinVar:SBF1 Ensembl:ENSG00000100241 Genatlas:SBF1 HGNC:10542 OMIM:603560 Reactome:O95248 SwissProt:O95248 SBF1 SET binding factor 1 UMLS:C5680979 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364568 Dysostosis with limb anomaly as a major feature Category ORPHA:364568 UMLS:C5680979 E (Exact mapping: the two concepts are equivalent) UMLS:C5680978 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364571 Dysostosis with limb and face anomalies as a major feature Category ORPHA:364571 UMLS:C5680978 E (Exact mapping: the two concepts are equivalent) ICD-11:LD25.2 UMLS:C1332140 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364574 Acrofacial dysostosis Clinical group ORPHA:364574 ICD-11:LD25.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1332140 E (Exact mapping: the two concepts are equivalent) Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. Orphanet ICD-10:Q87.0 OMIM:608670 UMLS:C4706564 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364577 Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608670 E (Exact mapping: the two concepts are equivalent) UMLS:C4706564 E (Exact mapping: the two concepts are equivalent) 10q11.22 BMP-9 BMP9 ClinVar:GDF2 Ensembl:ENSG00000263761 Genatlas:GDF2 HGNC:4217 OMIM:605120 Reactome:Q9UK05 SwissProt:Q9UK05 GDF2 growth differentiation factor 2 11q23.3 CAP2 MT-SP2 Membrane-type serine protease 2 TMPRSS3 Transmembrane serine protease 3 Type II membrane serine protease channel-activating serine protease 2 membrane-type serine protease 2 transmembrane serine protease 3 type II membrane serine protease ClinVar:TMPRSS4 Ensembl:ENSG00000137648 Genatlas:TMPRSS4 HGNC:11878 OMIM:606565 Reactome:Q9NRS4 SwissProt:Q9NRS4 TMPRSS4 transmembrane serine protease 4 mitochondria trnN ClinVar:MT-TN Ensembl:ENSG00000210135 Genatlas:MT-TN HGNC:7493 OMIM:590010 MT-TN mitochondrially encoded tRNA-Asn (AAU/C) 14q24.3 AP-1 c-fos ClinVar:FOS Ensembl:ENSG00000170345 Genatlas:FOS HGNC:3796 OMIM:164810 Reactome:P01100 SwissProt:P01100 FOS Fos proto-oncogene, AP-1 transcription factor subunit Xq21.1 ClinVar:FGF16 Ensembl:ENSG00000196468 Genatlas:FGF16 HGNC:3672 OMIM:300827 Reactome:O43320 SwissProt:O43320 FGF16 fibroblast growth factor 16 UMLS:C5680975 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364803 Rare bone disease related to a common gene or pathway defect Category ORPHA:364803 UMLS:C5680975 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Proteoglycan-related bone disorder OBSOLETE: Aggrecan-related bone disorder ORPHA:364817 UMLS:C5680977 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364820 TRPV4-related bone disorder Category ORPHA:364820 UMLS:C5680977 E (Exact mapping: the two concepts are equivalent) 1p34.3 AAV receptor AAVR KIAA1837 ClinVar:KIAA0319L Ensembl:ENSG00000142687 Genatlas:KIAA0319L HGNC:30071 OMIM:613535 Reactome:Q8IZA0 SwissProt:Q8IZA0 KIAA0319L KIAA0319 like 3p14.3 FLJ20335 Slob ClinVar:PXK Ensembl:ENSG00000168297 Genatlas:PXK HGNC:23326 IUPHAR:2183 OMIM:611450 SwissProt:Q7Z7A4 PXK PX domain containing serine/threonine kinase like 7p15.2-p15.1 DKFZp761K2222 TIP27 ZNF802 ClinVar:JAZF1 Ensembl:ENSG00000153814 Genatlas:JAZF1 HGNC:28917 OMIM:606246 SwissProt:Q86VZ6 JAZF1 JAZF zinc finger 1 2q21.3 aspartate tRNA ligase 1, cytoplasmic ClinVar:DARS Ensembl:ENSG00000115866 Genatlas:DARS HGNC:2678 OMIM:603084 Reactome:P14868 SwissProt:P14868 DARS1 aspartyl-tRNA synthetase 1 Alpha-1,4-glucosidase acid deficiency GSD due to acid maltase deficiency GSD type 2 GSD type II Glycogen storage disease type 2 Glycogen storage disease type II Glycogenosis due to acid maltase deficiency Glycogenosis type 2 Glycogenosis type II Pompe disease A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:D006009 MedDRA:10053185 OMIM:232300 UMLS:C0017921 Autosomal recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.68 AND has_birth_prevalence_range : 1-9 / 1 000 000 Austria AND has_birth_prevalence_average_value : 11.5 AND has_birth_prevalence_range : 1-5 / 10 000 China AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 0.37 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.83 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 2.25 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 0.17 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=365 Glycogen storage disease due to acid maltase deficiency ORPHA:365 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006009 E (Exact mapping: the two concepts are equivalent) MedDRA:10053185 E (Exact mapping: the two concepts are equivalent) OMIM:232300 E (Exact mapping: the two concepts are equivalent) UMLS:C0017921 E (Exact mapping: the two concepts are equivalent) 15q26.3 CSS1 KIAA0990 ClinVar:CHSY1 Ensembl:ENSG00000131873 Genatlas:CHSY1 HGNC:17198 OMIM:608183 Reactome:Q86X52 SwissProt:Q86X52 CHSY1 chondroitin sulfate synthase 1 4q22.1-q22.2 GluD2 GluR-delta-2 ClinVar:GRID2 Ensembl:ENSG00000152208 Genatlas:GRID2 HGNC:4576 IUPHAR:449 OMIM:602368 SwissProt:O43424 GRID2 glutamate ionotropic receptor delta type subunit 2 1q42.13 FLJ12734 iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa ClinVar:IBA57 Ensembl:ENSG00000181873 Genatlas:IBA57 HGNC:27302 OMIM:615316 SwissProt:Q5T440 IBA57 iron-sulfur cluster assembly factor IBA57 9q22.31 KIAA0699 ClinVar:BICD2 Ensembl:ENSG00000185963 Genatlas:BICD2 HGNC:17208 OMIM:609797 Reactome:Q8TD16 SwissProt:Q8TD16 BICD2 BICD cargo adaptor 2 13q14.11 COD2 KIAA1134 ClinVar:COG6 Ensembl:ENSG00000133103 Genatlas:COG6 HGNC:18621 OMIM:606977 Reactome:Q9Y2V7 SwissProt:Q9Y2V7 COG6 component of oligomeric golgi complex 6 19p13.3 TAD3 tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae) ClinVar:ADAT3 Ensembl:ENSG00000213638 Genatlas:ADAT3 HGNC:25151 OMIM:615302 Reactome:Q96EY9 SwissProt:Q96EY9 ADAT3 adenosine deaminase tRNA specific 3 22q11.23 RDC8 ClinVar:ADORA2A Ensembl:ENSG00000128271 Genatlas:ADORA2A HGNC:263 IUPHAR:19 OMIM:102776 Reactome:P29274 SwissProt:P29274 ADORA2A adenosine A2a receptor 16q22.1 11 zinc finger transcriptional repressor CFAP108 FAP108 ClinVar:CTCF Ensembl:ENSG00000102974 Genatlas:CTCF HGNC:13723 OMIM:604167 Reactome:P49711 SwissProt:P49711 CTCF CCCTC-binding factor 19q13.3 CDC2 CDC2 homolog (S. cerevisiae) ClinVar:POLD1 Ensembl:ENSG00000062822 Genatlas:POLD1 HGNC:9175 OMIM:174761 Reactome:P28340 SwissProt:P28340 POLD1 DNA polymerase delta 1, catalytic subunit 19q13.2 FLJ20450 SARS SERS SYS SerRSmt mtSerRS serine tRNA ligase 2, mitochondrial ClinVar:SARS2 Ensembl:ENSG00000104835 Genatlas:SARS2 HGNC:17697 OMIM:612804 Reactome:Q9NP81 SwissProt:Q9NP81 SARS2 seryl-tRNA synthetase 2, mitochondrial UMLS:C5680971 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=365563 Primary short bowel syndrome Clinical group ORPHA:365563 UMLS:C5680971 E (Exact mapping: the two concepts are equivalent) 1p32 HGNC:43726 SCA37 spinocerebellar ataxia 37 Amylo-1,6-glucosidase deficiency Cori disease Cori-Forbes disease Forbes disease GDE deficiency GSD due to glycogen debranching enzyme deficiency GSD type 3 GSDIII Glycogen storage disease type 3 Glycogen storage disease type III Glycogenosis due to glycogen debranching enzyme deficiency Glycogenosis type 3 Glycogenosis type III Limit dextrinosis Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:D006010 MedDRA:10053250 OMIM:232400 UMLS:C0017922 Autosomal recessive Childhood Infancy United States AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=366 Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006010 E (Exact mapping: the two concepts are equivalent) MedDRA:10053250 E (Exact mapping: the two concepts are equivalent) OMIM:232400 E (Exact mapping: the two concepts are equivalent) UMLS:C0017922 E (Exact mapping: the two concepts are equivalent) 1p13.1 sodium pump subunit alpha-1 sodium-potassium ATPase catalytic subunit alpha-1 sodium/potassium-transporting ATPase subunit alpha-1 ClinVar:ATP1A1 Ensembl:ENSG00000163399 Genatlas:ATP1A1 HGNC:799 IUPHAR:833 OMIM:182310 Reactome:P05023 SwissProt:P05023 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 9p13.2 B-cell lineage specific activator BSAP PAX-5 ClinVar:PAX5 Ensembl:ENSG00000196092 Genatlas:PAX5 HGNC:8619 OMIM:167414 Reactome:Q02548 SwissProt:Q02548 PAX5 paired box 5 Amylopectinosis Andersen disease GSD due to glycogen branching enzyme deficiency GSD type 4 GSD type IV Glycogen storage disease type 4 Glycogen storage disease type IV Glycogenosis due to glycogen branching enzyme deficiency Glycogenosis type 4 Glycogenosis type IV Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms). Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:D006011 MedDRA:10053249 OMIM:232500 OMIM:263570 UMLS:C0017923 Autosomal recessive All ages Worldwide AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=367 Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006011 E (Exact mapping: the two concepts are equivalent) MedDRA:10053249 E (Exact mapping: the two concepts are equivalent) OMIM:232500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:263570 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0017923 E (Exact mapping: the two concepts are equivalent) 2q13 BUB1A hBUB1 ClinVar:BUB1 Ensembl:ENSG00000169679 Genatlas:BUB1 HGNC:1148 IUPHAR:1949 OMIM:602452 Reactome:O43683 SwissProt:O43683 BUB1 BUB1 mitotic checkpoint serine/threonine kinase 10q26.13 BUB3L ClinVar:BUB3 Ensembl:ENSG00000154473 Genatlas:BUB3 HGNC:1151 OMIM:603719 Reactome:O43684 SwissProt:O43684 BUB3 BUB3 mitotic checkpoint protein 2q37.3 ClinVar:GPR35 Ensembl:ENSG00000178623 Genatlas:GPR35 HGNC:4492 IUPHAR:102 OMIM:602646 Reactome:Q9HC97 SwissProt:Q9HC97 GPR35 G protein-coupled receptor 35 3p21.31 MSP NF15S2 ClinVar:MST1 Ensembl:ENSG00000173531 Genatlas:MST1 HGNC:7380 OMIM:142408 Reactome:P26927 SwissProt:P26927 MST1 macrophage stimulating 1 21q22.11 CILD26 DNAAF16 FBB18 FLJ20467 Kur dynein axonemal assembly factor 16 kurly homolog (zebrafish) ClinVar:C21orf59 Ensembl:ENSG00000159079 Genatlas:C21orf59 HGNC:1301 OMIM:615494 SwissProt:P57076 CFAP298 cilia and flagella associated protein 298 12q13.12 CFAP250 CILD27 DRC2 FAP250 FLJ35732 NYD-SP28 ClinVar:CCDC65 Ensembl:ENSG00000139537 Genatlas:CCDC65 HGNC:29937 OMIM:611088 SwissProt:Q8IXS2 CCDC65 coiled-coil domain containing 65 8q22.2 CILD28 CT140 DNAAF13 FLJ32920 HSD-3.8 SP75 TPIS dynein axonemal assembly factor 13 ClinVar:SPAG1 Ensembl:ENSG00000104450 Genatlas:SPAG1 HGNC:11212 OMIM:603395 SwissProt:Q07617 SPAG1 sperm associated antigen 1 GSD due to muscle glycogen phosphorylase deficiency GSD type 5 GSD type V Glycogen storage disease type 5 Glycogen storage disease type V Glycogenosis due to muscle glycogen phosphorylase deficiency Glycogenosis type 5 Glycogenosis type V McArdle disease Myophosphorylase deficiency Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:D006012 MedDRA:10018462 OMIM:232600 UMLS:C0017924 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency ORPHA:368 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006012 E (Exact mapping: the two concepts are equivalent) MedDRA:10018462 E (Exact mapping: the two concepts are equivalent) OMIM:232600 E (Exact mapping: the two concepts are equivalent) UMLS:C0017924 E (Exact mapping: the two concepts are equivalent) 15q25.3 CCP4 FLJ32310 cytosolic carboxypeptidase 4 ClinVar:AGBL1 Ensembl:ENSG00000273540 Genatlas:AGBL1 HGNC:26504 OMIM:615496 Reactome:Q96MI9 SwissProt:Q96MI9 AGBL1 AGBL carboxypeptidase 1 3p24.2 HAP NR1B2 RAR-beta RARbeta RRB2 ClinVar:RARB Ensembl:ENSG00000077092 Genatlas:RARB HGNC:9865 IUPHAR:591 OMIM:180220 Reactome:P10826 SwissProt:P10826 RARB retinoic acid receptor beta 1q32.3 HsPK 21 NEK2A NLK1 PPP1R111 RP67 protein phosphatase 1, regulatory subunit 111 ClinVar:NEK2 Ensembl:ENSG00000117650 Genatlas:NEK2 HGNC:7745 IUPHAR:2117 OMIM:604043 Reactome:P51955 SwissProt:P51955 NEK2 NIMA related kinase 2 Alcohol-responsive dystonia Hereditary essential myoclonus Myoclonic dystonia Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. Orphanet ICD-10:G24.1 ICD-11:8A02.11 MeSH:C536096 MedDRA:10084572 OMIM:159900 OMIM:616398 UMLS:C1834570 Autosomal dominant Not applicable Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36899 Myoclonus-dystonia syndrome ORPHA:36899 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536096 E (Exact mapping: the two concepts are equivalent) MedDRA:10084572 E (Exact mapping: the two concepts are equivalent) OMIM:159900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616398 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1834570 E (Exact mapping: the two concepts are equivalent) GSD due to liver glycogen phosphorylase deficiency GSD type 6 GSD type VI Glycogen storage disease type 6 Glycogen storage disease type VI Glycogenosis due to liver glycogen phosphorylase deficiency Glycogenosis type 6 Glycogenosis type VI Hepatic glycogen phosphorylase deficiency Hepatic phosphorylase deficiency Hers disease Liver glycogen phosphorylase deficiency A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by hepatomegaly and growth delay in childhood. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:D006013 MedDRA:10053240 OMIM:232700 UMLS:C0017925 Autosomal recessive Childhood Israel AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369 Glycogen storage disease due to liver glycogen phosphorylase deficiency ORPHA:369 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006013 E (Exact mapping: the two concepts are equivalent) MedDRA:10053240 E (Exact mapping: the two concepts are equivalent) OMIM:232700 E (Exact mapping: the two concepts are equivalent) UMLS:C0017925 E (Exact mapping: the two concepts are equivalent) A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases. Orphanet ICD-10:E20.8 ICD-11:5A50.03 UMLS:C0271865 Not applicable Adolescent Adult Childhood Denmark AND has_point_prevalence_average_value : 0.023 AND has_point_prevalence_range : <1 / 1 000 000 Korea, Republic of AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=36913 Autoimmune hypoparathyroidism ORPHA:36913 ICD-10:E20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0271865 E (Exact mapping: the two concepts are equivalent) 5q33.1 ABIN-1 KIAA0113 NAF1 Nef-associated factor 1 SNP VAN virion-associated nuclear-shuttling protein ClinVar:TNIP1 Ensembl:ENSG00000145901 Genatlas:TNIP1 HGNC:16903 OMIM:607714 Reactome:Q15025 SwissProt:Q15025 TNIP1 TNFAIP3 interacting protein 1 6q23.3 A20 OTUD7C ClinVar:TNFAIP3 Ensembl:ENSG00000118503 Genatlas:TNFAIP3 HGNC:11896 OMIM:191163 Reactome:P21580 SwissProt:P21580 TNFAIP3 TNF alpha induced protein 3 22q11.21 UBCH7 ClinVar:UBE2L3 Ensembl:ENSG00000185651 Genatlas:UBE2L3 HGNC:12488 OMIM:603721 Reactome:P68036 SwissProt:P68036 UBE2L3 ubiquitin conjugating enzyme E2 L3 1q25.1 CD252 OX-40L gp34 ClinVar:TNFSF4 Ensembl:ENSG00000117586 Genatlas:TNFSF4 HGNC:11934 OMIM:603594 Reactome:P23510 SwissProt:P23510 TNFSF4 TNF superfamily member 4 4q22.1 BSPI ETA-1 early T-lymphocyte activation 1 lnc-PKD2-2-3 ClinVar:SPP1 Ensembl:ENSG00000118785 Genatlas:SPP1 HGNC:11255 OMIM:166490 Reactome:P10451 SwissProt:P10451 SPP1 secreted phosphoprotein 1 Xq28 IRAK pelle ClinVar:IRAK1 Ensembl:ENSG00000184216 Genatlas:IRAK1 HGNC:6112 IUPHAR:2042 OMIM:300283 Reactome:P51617 SwissProt:P51617 IRAK1 interleukin 1 receptor associated kinase 1 11q24.3 Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1 ETS-1 FLJ10768 ets protein ClinVar:ETS1 Ensembl:ENSG00000134954 Genatlas:ETS1 HGNC:3488 OMIM:164720 Reactome:P14921 SwissProt:P14921 ETS1 ETS proto-oncogene 1, transcription factor 15q26.2 FLJ11175 FLJ33303 ClinVar:MCTP2 Ensembl:ENSG00000140563 Genatlas:MCTP2 HGNC:25636 OMIM:616297 SwissProt:Q6DN12 MCTP2 multiple C2 and transmembrane domain containing 2 22q11.21 BTBD29 LZTR-1 ClinVar:LZTR1 Ensembl:ENSG00000099949 Genatlas:LZTR1 HGNC:6742 OMIM:600574 SwissProt:Q8N653 LZTR1 leucine zipper like post translational regulator 1 7p11.2 FLJ44060 Septin-14 ClinVar:sept-14 Ensembl:ENSG00000154997 Genatlas:SEPT14 HGNC:33280 OMIM:612140 SwissProt:Q6ZU15 SEPTIN14 septin 14 Congenital disorder of glycosylation due to PIGT deficiency MCAHS type 3 Multiple congenital anomalies-hypotonia-seizures syndrome type 3 PIGT-CDG A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. Orphanet ICD-10:Q87.8 OMIM:615398 UMLS:C4749459 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615398 E (Exact mapping: the two concepts are equivalent) UMLS:C4749459 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2S LGMD type 2S LGMD2S Limb-girdle muscular dystrophy type 2S TRAPPC11-related LGMD R18 A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. Orphanet ICD-10:G71.0 OMIM:615356 UMLS:C4517996 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369840 TRAPPC11-related limb-girdle muscular dystrophy R18 ORPHA:369840 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615356 E (Exact mapping: the two concepts are equivalent) UMLS:C4517996 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported. Orphanet ICD-10:G25.5 UMLS:C5192595 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome ORPHA:369847 ICD-10:G25.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5192595 E (Exact mapping: the two concepts are equivalent) Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome VPS45 deficiency Vacuolar sorting protein 45 deficiency A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Orphanet ICD-10:D70 OMIM:615285 UMLS:C4755251 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome ORPHA:369852 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615285 E (Exact mapping: the two concepts are equivalent) UMLS:C4755251 E (Exact mapping: the two concepts are equivalent) SIFD syndrome A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Orphanet ICD-10:D64.0 OMIM:616084 UMLS:C4707403 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ORPHA:369861 ICD-10:D64.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616084 E (Exact mapping: the two concepts are equivalent) UMLS:C4707403 E (Exact mapping: the two concepts are equivalent) RI-CMT type C A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Orphanet ICD-10:G60.0 OMIM:615376 UMLS:C4750846 Autosomal recessive Adult All ages Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 3.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C ORPHA:369867 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615376 E (Exact mapping: the two concepts are equivalent) UMLS:C4750846 E (Exact mapping: the two concepts are equivalent) A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. Orphanet ICD-10:E66.8 ICD-11:5B81.Y UMLS:C5191050 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369873 Obesity due to SIM1 deficiency Etiological subtype ORPHA:369873 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191050 E (Exact mapping: the two concepts are equivalent) Del(2)(p21) without cystinuria 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Orphanet ICD-10:Q93.5 UMLS:C4749458 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369881 2p21 microdeletion syndrome without cystinuria ORPHA:369881 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749458 E (Exact mapping: the two concepts are equivalent) 2p21 contiguous gene deletion syndrome UMLS:C5679912 Not applicable Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369886 Homozygous 2p21 microdeletion syndrome Clinical group ORPHA:369886 UMLS:C5679912 E (Exact mapping: the two concepts are equivalent) MED13L-related intellectual disability syndrome A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features. Orphanet ICD-10:Q87.8 OMIM:616789 UMLS:C5192431 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616789 E (Exact mapping: the two concepts are equivalent) UMLS:C5192431 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-specific early-onset epileptic encephalopathy OBSOLETE: Early infantile epileptic encephalopathy without suppression burst ORPHA:369894 mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities. Orphanet ICD-10:E88.8 OMIM:615471 UMLS:C5679913 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ORPHA:369897 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615471 E (Exact mapping: the two concepts are equivalent) UMLS:C5679913 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofaciodigital syndrome type 5 OBSOLETE: DDX59-related orofaciodigital syndrome ORPHA:369902 COXPD17 Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Orphanet ICD-10:E88.8 OMIM:615440 UMLS:C3809526 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369913 Combined oxidative phosphorylation defect type 17 ORPHA:369913 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615440 E (Exact mapping: the two concepts are equivalent) UMLS:C3809526 E (Exact mapping: the two concepts are equivalent) PCH9 A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. Orphanet ICD-10:Q04.3 OMIM:615809 UMLS:C4014354 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369920 Pontocerebellar hypoplasia type 9 ORPHA:369920 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615809 E (Exact mapping: the two concepts are equivalent) UMLS:C4014354 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). Orphanet ICD-10:E26.0 OMIM:615474 UMLS:C5230308 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome ORPHA:369929 ICD-10:E26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615474 E (Exact mapping: the two concepts are equivalent) UMLS:C5230308 E (Exact mapping: the two concepts are equivalent) Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Orphanet ICD-10:Q87.8 OMIM:300475 UMLS:C4749456 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300475 E (Exact mapping: the two concepts are equivalent) UMLS:C4749456 E (Exact mapping: the two concepts are equivalent) Contiguous ABCD1 DXS1357E deletion syndrome Zellweger-like contiguous gene deletion syndrome CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). Orphanet ICD-10:Q87.8 MeSH:C564508 OMIM:300475 UMLS:C3806634 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369942 CADDS ORPHA:369942 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564508 E (Exact mapping: the two concepts are equivalent) OMIM:300475 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3806634 E (Exact mapping: the two concepts are equivalent) Der(8)t(8;12) Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. Orphanet ICD-10:Q87.8 UMLS:C4749455 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369950 Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749455 E (Exact mapping: the two concepts are equivalent) CblJ defects Cobalamin J defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ Methylmalonic aciduria with homocystinuria, type cblJ ICD-10:E71.1 ICD-11:5C50.E0 OMIM:614857 UMLS:C3553915 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369955 Methylmalonic acidemia with homocystinuria, type cblJ Clinical subtype ORPHA:369955 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614857 E (Exact mapping: the two concepts are equivalent) UMLS:C3553915 E (Exact mapping: the two concepts are equivalent) Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX Methylmalonic aciduria with homocystinuria, type cblX ICD-10:E71.1 ICD-11:5C50.E0 OMIM:309541 UMLS:C0796208 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369962 Methylmalonic acidemia with homocystinuria, type cblX Clinical subtype ORPHA:369962 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:309541 E (Exact mapping: the two concepts are equivalent) UMLS:C0796208 E (Exact mapping: the two concepts are equivalent) MMCAT syndrome A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment. Orphanet ICD-10:Q15.8 OMIM:615458 UMLS:C4751602 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome ORPHA:369970 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615458 E (Exact mapping: the two concepts are equivalent) UMLS:C4751602 E (Exact mapping: the two concepts are equivalent) A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. Orphanet ICD-10:Q87.2 UMLS:C5190599 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ORPHA:369979 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190599 E (Exact mapping: the two concepts are equivalent) Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome SAM syndrome A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects. Orphanet ICD-10:Q82.8 OMIM:615508 UMLS:C3809719 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome ORPHA:369992 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615508 E (Exact mapping: the two concepts are equivalent) UMLS:C3809719 E (Exact mapping: the two concepts are equivalent) A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers. Orphanet ICD-10:Q82.8 OMIM:148700 UMLS:C4755309 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=369999 Diffuse palmoplantar keratoderma with painful fissures ORPHA:369999 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:148700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4755309 E (Exact mapping: the two concepts are equivalent) AEZ Acrodermatitis enteropathica, zinc deficiency type Inherited zinc deficiency A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. Orphanet ICD-10:E83.2 ICD-11:5C64.20 MeSH:C538178 MedDRA:10000596 OMIM:201100 UMLS:C0221036 Autosomal recessive Infancy Neonatal Denmark AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=37 Acrodermatitis enteropathica ORPHA:37 ICD-10:E83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C64.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538178 E (Exact mapping: the two concepts are equivalent) MedDRA:10000596 E (Exact mapping: the two concepts are equivalent) OMIM:201100 E (Exact mapping: the two concepts are equivalent) UMLS:C0221036 E (Exact mapping: the two concepts are equivalent) GSD due to phosphorylase kinase deficiency GSD type 9 GSD type IX Glycogen storage disease due to PhK deficiency Glycogen storage disease type 9 Glycogen storage disease type IX Glycogenosis due to phosphorylase kinase deficiency Glycogenosis type 9 Glycogenosis type IX Gycogenosis due to PhK deficiency Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms). Orphanet ICD-11:5C51.3 MeSH:C580130 MedDRA:10083034 UMLS:C0268147 Autosomal recessive X-linked recessive All ages Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370 Glycogen storage disease due to phosphorylase kinase deficiency Clinical group ORPHA:370 ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580130 E (Exact mapping: the two concepts are equivalent) MedDRA:10083034 E (Exact mapping: the two concepts are equivalent) UMLS:C0268147 E (Exact mapping: the two concepts are equivalent) A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Orphanet ICD-10:Q82.8 OMIM:148700 UMLS:C4755302 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370002 Focal palmoplantar keratoderma with joint keratoses ORPHA:370002 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:148700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4755302 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum OMIM:615926 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome ORPHA:370006 OMIM:615926 E (Exact mapping: the two concepts are equivalent) Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed. Orphanet ICD-10:Q87.0 UMLS:C4750848 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome ORPHA:370010 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750848 E (Exact mapping: the two concepts are equivalent) SEMDIST Spondyloepimetaphyseal dysplasia with severe short stature A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses. Orphanet ICD-10:Q77.8 OMIM:618728 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type ORPHA:370015 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618728 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Czarny-Ratajczak type ORPHA:370019 Poretti-Boltshauser syndrome A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Orphanet ICD-10:G11.1 OMIM:615960 UMLS:C4014821 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615960 E (Exact mapping: the two concepts are equivalent) UMLS:C4014821 E (Exact mapping: the two concepts are equivalent) AML with t(8;16)(p11;p13) translocation A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found <i>de novo</i> or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. Orphanet ICD-10:C92.0 UMLS:C4511003 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation ORPHA:370026 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4511003 E (Exact mapping: the two concepts are equivalent) ICD-10:Q06.4 ICD-11:8D66 UMLS:C5680970 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370034 Familial syringomyelia Clinical subtype ORPHA:370034 ICD-10:Q06.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D66 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680970 E (Exact mapping: the two concepts are equivalent) Schauder syndrome A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported. Orphanet ICD-10:Q82.5 UMLS:C4751601 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370039 Angora hair nevus ORPHA:370039 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751601 E (Exact mapping: the two concepts are equivalent) Aplasia cutis congenita-nevus sebaceus syndrome A rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. Orphanet ICD-10:Q84.8 UMLS:C4751600 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370046 Didymosis aplasticosebacea ORPHA:370046 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751600 E (Exact mapping: the two concepts are equivalent) Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. Orphanet ICD-10:Q84.8 UMLS:C4751599 Not applicable Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370052 SCALP syndrome ORPHA:370052 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751599 E (Exact mapping: the two concepts are equivalent) Nevus epidermicus verrucosus with angiodysplasia and aneurysms A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. Orphanet ICD-10:Q84.8 UMLS:C4751431 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370059 NEVADA syndrome ORPHA:370059 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751431 E (Exact mapping: the two concepts are equivalent) 2q34 ALS19 HER4 human epidermal growth factor receptor 4 ClinVar:ERBB4 Ensembl:ENSG00000178568 Genatlas:ERBB4 HGNC:3432 IUPHAR:1799 OMIM:600543 Reactome:Q15303 SwissProt:Q15303 ERBB4 erb-b2 receptor tyrosine kinase 4 FACS Fetal AEDS Fetal antiepileptic drug syndrome MedDRA:10066485 UMLS:C1739111 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370068 Fetal anticonvulsant syndrome Clinical group ORPHA:370068 MedDRA:10066485 E (Exact mapping: the two concepts are equivalent) UMLS:C1739111 E (Exact mapping: the two concepts are equivalent) Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. <i>In utero</i> exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies. Orphanet ICD-10:Q86.8 UMLS:C0432370 Not applicable Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370076 Fetal carbamazepine syndrome ORPHA:370076 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0432370 E (Exact mapping: the two concepts are equivalent) Proximal dup(16)(p11.2) Proximal trisomy 16p11.2 Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. Orphanet ICD-10:Q92.3 OMIM:614671 UMLS:C4707332 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370079 Proximal 16p11.2 microduplication syndrome ORPHA:370079 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614671 E (Exact mapping: the two concepts are equivalent) UMLS:C4707332 E (Exact mapping: the two concepts are equivalent) A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. Orphanet ICD-10:K72.0 OMIM:615438 UMLS:C4751598 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370088 Acute infantile liver failure-multisystemic involvement syndrome ORPHA:370088 ICD-10:K72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615438 E (Exact mapping: the two concepts are equivalent) UMLS:C4751598 E (Exact mapping: the two concepts are equivalent) OCA5 A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:615312 UMLS:C3888401 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370091 Oculocutaneous albinism type 5 ORPHA:370091 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615312 E (Exact mapping: the two concepts are equivalent) UMLS:C3888401 E (Exact mapping: the two concepts are equivalent) OCA6 A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:113750 UMLS:C3805375 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370097 Oculocutaneous albinism type 6 ORPHA:370097 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:113750 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3805375 E (Exact mapping: the two concepts are equivalent) Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course. Orphanet ICD-10:G24.1 ICD-11:8A02.0Y OMIM:612406 UMLS:C5190526 Adolescent Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370103 Primary dystonia, DYT17 type ORPHA:370103 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612406 E (Exact mapping: the two concepts are equivalent) UMLS:C5190526 E (Exact mapping: the two concepts are equivalent) UMLS:C5680969 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370106 Rare disorder with dystonia and other neurologic or systemic manifestation Category ORPHA:370106 UMLS:C5680969 E (Exact mapping: the two concepts are equivalent) v-AT A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. Orphanet ICD-10:G11.3 MeSH:C566865 UMLS:C1876175 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370109 Ataxia-telangiectasia variant ORPHA:370109 ICD-10:G11.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566865 E (Exact mapping: the two concepts are equivalent) UMLS:C1876175 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ataxia-telangiectasia variant Combined cervical dystonia ORPHA:370114 Medich macrothrombocytopenia Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. Orphanet ICD-10:D69.1 ICD-11:3B62.Y UMLS:C4305375 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370127 Medich giant platelet syndrome ORPHA:370127 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305375 E (Exact mapping: the two concepts are equivalent) White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. Orphanet ICD-10:D69.1 ICD-11:3B62.0Y MeSH:C536702 UMLS:C2931293 Autosomal dominant No data available Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370131 White platelet syndrome ORPHA:370131 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536702 E (Exact mapping: the two concepts are equivalent) UMLS:C2931293 E (Exact mapping: the two concepts are equivalent) 6q27 FLJ11152 dJ266L20.3 ClinVar:C6orf70 Ensembl:ENSG00000130023 Genatlas:C6orf70 HGNC:21056 OMIM:615532 SwissProt:Q5T6L9 ERMARD ER membrane associated RNA degradation EOE Extraosseous Ewing sarcoma Extraosseous Ewing tumor Extraskeletal Ewing tumor Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs. Orphanet ICD-10:C49.9 ICD-11:2B52.Y OMIM:612219 UMLS:C0279980 Not applicable Adolescent Adult Childhood Austria AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.083 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.112 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.126 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.106 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.081 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.058 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370334 Extraskeletal Ewing sarcoma ORPHA:370334 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B52.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612219 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0279980 E (Exact mapping: the two concepts are equivalent) PPNET Peripheral PNET Peripheral neuroepithelioma A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone. Orphanet ICD-10:C71.9 MeSH:D018241 OMIM:612219 UMLS:C0684337 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370348 Peripheral primitive neuroectodermal tumor ORPHA:370348 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018241 E (Exact mapping: the two concepts are equivalent) OMIM:612219 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0684337 E (Exact mapping: the two concepts are equivalent) 6q21 ACT1 CIKS DKFZP586G0522 ClinVar:TRAF3IP2 Ensembl:ENSG00000056972 Genatlas:TRAF3IP2 HGNC:1343 OMIM:607043 Reactome:O43734 SwissProt:O43734 TRAF3IP2 TRAF3 interacting protein 2 SCCO Small cell ovarian carcinoma Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported. Orphanet ICD-10:C56 UMLS:C2212006 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370396 Small cell carcinoma of the ovary ORPHA:370396 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2212006 E (Exact mapping: the two concepts are equivalent) 19p13.3 EEF-2 Polypeptidyl-tRNA translocase polypeptidyl-tRNA translocase ClinVar:EEF2 Ensembl:ENSG00000167658 Genatlas:EEF2 HGNC:3214 IUPHAR:2756 OMIM:130610 Reactome:P13639 SwissProt:P13639 EEF2 eukaryotic translation elongation factor 2 1q44 C2H2-171 RP58 TAZ-1 ClinVar:ZBTB18 Ensembl:ENSG00000179456 Genatlas:ZBTB18 HGNC:13030 OMIM:608433 SwissProt:Q99592 ZBTB18 zinc finger and BTB domain containing 18 Autoimmune enteropathy type 1 IPEX A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. Orphanet ICD-10:E31.0 ICD-11:4A01.21 MeSH:C580192 MedDRA:10080631 OMIM:304790 UMLS:C0342288 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 195.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042 ICD-10:E31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580192 E (Exact mapping: the two concepts are equivalent) MedDRA:10080631 E (Exact mapping: the two concepts are equivalent) OMIM:304790 E (Exact mapping: the two concepts are equivalent) UMLS:C0342288 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Iw CDG-Iw CDG1W Congenital disorder of glycosylation type 1w Congenital disorder of glycosylation type Iw STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene <i>STT3A</i> (11q23.3). Orphanet ICD-10:E77.8 ICD-11:5C54.0 OMIM:615596 UMLS:C3810062 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370921 STT3A-CDG ORPHA:370921 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615596 E (Exact mapping: the two concepts are equivalent) UMLS:C3810062 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ix CDG-Ix CDG1X Carbohydrate deficient glycoprotein syndrome type Ix Congenital disorder of glycosylation type 1x Congenital disorder of glycosylation type Ix STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene <i>STT3B</i> (3p24.1). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535751 OMIM:615597 UMLS:C2931007 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370924 STT3B-CDG ORPHA:370924 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535751 E (Exact mapping: the two concepts are equivalent) OMIM:615597 E (Exact mapping: the two concepts are equivalent) UMLS:C2931007 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Iy CDG-Iy CDG1Y Carbohydrate deficient glycoprotein syndrome type Iy Congenital disorder of glycosylation type 1y Congenital disorder of glycosylation type Iy SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene <i> SSR4</i> (Xq28). Orphanet ICD-10:E77.8 ICD-11:5C54.0 OMIM:300934 UMLS:C4012395 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370927 SSR4-CDG ORPHA:370927 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300934 E (Exact mapping: the two concepts are equivalent) UMLS:C4012395 E (Exact mapping: the two concepts are equivalent) A rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs. Orphanet ICD-10:E77.8 ICD-11:5C54.1 UMLS:C4750849 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370930 XYLT1-CDG ORPHA:370930 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750849 E (Exact mapping: the two concepts are equivalent) ST3GAL5-CDG GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated. Orphanet ICD-10:E77.8 ICD-11:5C54.Y OMIM:609056 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370933 GM3 synthase deficiency ORPHA:370933 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609056 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency Salt-and-pepper syndrome ORPHA:370938 SLC35A3-CDG A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. Orphanet ICD-10:Q87.8 ICD-11:5C54.0 OMIM:615553 UMLS:C4518080 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615553 E (Exact mapping: the two concepts are equivalent) UMLS:C4518080 E (Exact mapping: the two concepts are equivalent) CMD due to dystroglycanopathy UMLS:C5679911 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370953 Congenital muscular dystrophy due to dystroglycanopathy Category ORPHA:370953 UMLS:C5679911 E (Exact mapping: the two concepts are equivalent) CMD with cerebellar involvement CMD-CRB A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. Orphanet ICD-10:G71.2 ICD-11:8C70.6 OMIM:606612 OMIM:613151 OMIM:613155 OMIM:613156 OMIM:615351 UMLS:C5190848 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370959 Congenital muscular dystrophy with cerebellar involvement ORPHA:370959 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606612 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613151 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613155 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613156 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615351 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190848 E (Exact mapping: the two concepts are equivalent) CMD with intellectual disability CMD-MR A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. Orphanet ICD-10:G71.2 OMIM:606612 OMIM:608840 OMIM:613155 OMIM:613156 OMIM:615351 OMIM:618992 UMLS:C5190846 Autosomal recessive Infancy Neonatal Worldwide Worldwide AND has_annual_incidence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370968 Congenital muscular dystrophy with intellectual disability ORPHA:370968 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606612 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:608840 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613155 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613156 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615351 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:618992 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190846 E (Exact mapping: the two concepts are equivalent) CMD without intellectual disability CMD-no MR Congenital muscular dystrophy-dystroglycanopathy without intellectual disability A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. Orphanet ICD-10:G71.2 OMIM:606612 OMIM:613152 UMLS:C5190847 Autosomal recessive Infancy Neonatal Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370980 Congenital muscular dystrophy without intellectual disability ORPHA:370980 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606612 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613152 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190847 E (Exact mapping: the two concepts are equivalent) MEB disease with bilateral multicystic leucodystrophy A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Orphanet ICD-10:G71.0 OMIM:616538 UMLS:C5191414 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy ORPHA:370997 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616538 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5191414 E (Exact mapping: the two concepts are equivalent) GSD due to muscle phosphofructokinase deficiency GSD type 7 GSD type VII Glycogen storage disease type 7 Glycogen storage disease type VII Glycogenosis due to muscle phosphofructokinase deficiency Glycogenosis type 7 Glycogenosis type VII Tarui disease Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:D006014 MedDRA:10053241 OMIM:232800 UMLS:C0017926 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371 Glycogen storage disease due to muscle phosphofructokinase deficiency ORPHA:371 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006014 E (Exact mapping: the two concepts are equivalent) MedDRA:10053241 E (Exact mapping: the two concepts are equivalent) OMIM:232800 E (Exact mapping: the two concepts are equivalent) UMLS:C0017926 E (Exact mapping: the two concepts are equivalent) CMDH Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. Orphanet ICD-10:G71.2 UMLS:C4706389 Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371007 Congenital muscular dystrophy with hyperlaxity ORPHA:371007 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706389 E (Exact mapping: the two concepts are equivalent) Alpha-dystroglycanopathy Dystroglycanopathy UMLS:C2936406 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371024 Qualitative or quantitative defects of alpha-dystroglycan Category ORPHA:371024 UMLS:C2936406 E (Exact mapping: the two concepts are equivalent) Primary alpha-dystroglycanopathy Primary dystroglycanopathy UMLS:C5679905 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371040 Primary qualitative or quantitative defects of alpha-dystroglycan Category ORPHA:371040 UMLS:C5679905 E (Exact mapping: the two concepts are equivalent) CDG with neurological involvement UMLS:C5679903 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371047 Congenital disorder of glycosylation with neurological involvement Category ORPHA:371047 UMLS:C5679903 E (Exact mapping: the two concepts are equivalent) OBSOLETE: X-linked CDG with intellectual disability as a major feature This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndromic intellectual disability OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature ORPHA:371054 OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature ORPHA:371064 CDG with epilepsy as a major feature UMLS:C5679904 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371071 Congenital disorder of glycosylation with epilepsy as a major feature Category ORPHA:371071 UMLS:C5679904 E (Exact mapping: the two concepts are equivalent) 11q14.2 CALM CLTH ClinVar:PICALM Ensembl:ENSG00000073921 Genatlas:PICALM HGNC:15514 OMIM:603025 Reactome:Q13492 SwissProt:Q13492 PICALM phosphatidylinositol binding clathrin assembly protein CDG with hepatic involvement UMLS:C5679910 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371157 Congenital disorder of glycosylation with hepatic involvement Category ORPHA:371157 UMLS:C5679910 E (Exact mapping: the two concepts are equivalent) 1p21.2 UDP-N-acetylglucosamine transporter ClinVar:SLC35A3 Ensembl:ENSG00000117620 Genatlas:SLC35A3 HGNC:11023 IUPHAR:1140 OMIM:605632 Reactome:Q9Y2D2 SwissProt:Q9Y2D2 SLC35A3 solute carrier family 35 member A3 10q24.32 LYT-10 NF-kB2 p105 p49/p100 p52 ClinVar:NFKB2 Ensembl:ENSG00000077150 Genatlas:NFKB2 HGNC:7795 IUPHAR:3282 OMIM:164012 Reactome:Q00653 SwissProt:Q00653 NFKB2 nuclear factor kappa B subunit 2 CDG with dilated cardiomyopathy UMLS:C5679907 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371176 Congenital disorder of glycosylation with dilated cardiomyopathy Category ORPHA:371176 UMLS:C5679907 E (Exact mapping: the two concepts are equivalent) CDG with cardiac malformation as a major feature UMLS:C5679906 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371183 Congenital disorder of glycosylation with cardiac malformation as a major feature Category ORPHA:371183 UMLS:C5679906 E (Exact mapping: the two concepts are equivalent) CDG with intestinal involvement UMLS:C5679909 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371188 Congenital disorder of glycosylation with intestinal involvement Category ORPHA:371188 UMLS:C5679909 E (Exact mapping: the two concepts are equivalent) CDG-related bone disorder UMLS:C5679908 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371195 Congenital disorder of glycosylation-related bone disorder Category ORPHA:371195 UMLS:C5679908 E (Exact mapping: the two concepts are equivalent) CDG with skin involvement UMLS:C5680020 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371200 Congenital disorder of glycosylation with skin involvement Category ORPHA:371200 UMLS:C5680020 E (Exact mapping: the two concepts are equivalent) CDG with nephropathy as a major feature UMLS:C5680019 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371207 Congenital disorder of glycosylation with nephropathy as a major feature Category ORPHA:371207 UMLS:C5680019 E (Exact mapping: the two concepts are equivalent) CDG with deafness as a major feature CDG with hearing loss as a major feature Congenital disorder of glycosylation with hearing loss as a major feature UMLS:C5680021 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371212 Congenital disorder of glycosylation with deafness as a major feature Category ORPHA:371212 UMLS:C5680021 E (Exact mapping: the two concepts are equivalent) 2p23.3 BBS20 NPHP17 SLB osm-1 wim wimple homolog ClinVar:IFT172 Ensembl:ENSG00000138002 Genatlas:IFT172 HGNC:30391 OMIM:607386 Reactome:Q9UG01 SwissProt:Q9UG01 IFT172 intraflagellar transport 172 CDG with developmental anomaly UMLS:C5680018 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371235 Congenital disorder of glycosylation with developmental anomaly Category ORPHA:371235 UMLS:C5680018 E (Exact mapping: the two concepts are equivalent) 15q25.1 ACC-4 ACC-5 ACC4 ACC5 ClinVar:CTSH Ensembl:ENSG00000103811 Genatlas:CTSH HGNC:2535 IUPHAR:2349 OMIM:116820 Reactome:P09668 SwissProt:P09668 CTSH cathepsin H 19p13.2 P2Y11 ClinVar:P2RY11 Ensembl:ENSG00000244165 Genatlas:P2RY11 HGNC:8540 IUPHAR:327 OMIM:602697 Reactome:Q96G91 SwissProt:Q96G91 P2RY11 purinergic receptor P2Y11 10q21.2 KIAA0844 Su48 Talanin UAN ClinVar:ZNF365 Ensembl:ENSG00000138311 Genatlas:ZNF365 HGNC:18194 OMIM:607818 SwissProt:Q70YC4 SwissProt:Q70YC5 ZNF365 zinc finger protein 365 7q11.23 HPC-1 p35-1 ClinVar:STX1A Ensembl:ENSG00000106089 Genatlas:STX1A HGNC:11433 OMIM:186590 Reactome:Q16623 SwissProt:Q16623 STX1A syntaxin 1A 20q13.12 GPI transamidase component PIG-T GPI transamidase subunit PIG-T ClinVar:PIGT Ensembl:ENSG00000124155 Genatlas:PIGT HGNC:14938 OMIM:610272 Reactome:Q969N2 SwissProt:Q969N2 PIGT phosphatidylinositol glycan anchor biosynthesis class T IHPRF syndrome Infantile hypotonia-psychomotor retardation-characteristic facies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Orphanet ICD-10:Q87.8 OMIM:615419 OMIM:616801 UMLS:C4706556 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371364 Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615419 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616801 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706556 E (Exact mapping: the two concepts are equivalent) MONA spectrum NAO syndrome Nodulosis-arthropathy-osteolysis syndrome Torg-Winchester syndrome A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. Orphanet ICD-10:M89.5 OMIM:259600 OMIM:277950 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371428 Multicentric osteolysis-nodulosis-arthropathy spectrum ORPHA:371428 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:259600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:277950 BTNT (ORPHAcode is broader than the targeted code used to represent it) ICD-11:8C74.1 UMLS:C5681151 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371433 Genetic periodic paralysis Category ORPHA:371433 ICD-11:8C74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681151 E (Exact mapping: the two concepts are equivalent) UMLS:C5681150 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371436 Genetic neurovascular malformation Category ORPHA:371436 UMLS:C5681150 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare cerebrovascular dementia OBSOLETE: Genetic cerebrovascular dementia ORPHA:371439 UMLS:C5681152 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371442 Sphingolipidosis with epilepsy Category ORPHA:371442 UMLS:C5681152 E (Exact mapping: the two concepts are equivalent) UMLS:C5681148 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371445 Genetic syndromic esophageal malformation Category ORPHA:371445 UMLS:C5681148 E (Exact mapping: the two concepts are equivalent) 6p24.1 FLJ32666 TBC domain family 7 TBC7 TS complex subunit 3 Tre2-Bub2-Cdc16 Domain Family Member 7 dJ257A7.3 ClinVar:TBC1D7 Ensembl:ENSG00000145979 Genatlas:TBC1D7 HGNC:21066 OMIM:612655 Reactome:Q9P0N9 SwissProt:Q9P0N9 TBC1D7 TBC1 domain family member 7 15q21.1 JSX NCKX5 Na/Ca-K exchanger 5 OCA6 oculocutaneous albinism 6 (autosomal recessive) ClinVar:SLC24A5 Ensembl:ENSG00000188467 Genatlas:SLC24A5 HGNC:20611 IUPHAR:1049 OMIM:609802 Reactome:Q71RS6 SwissProt:Q71RS6 SLC24A5 solute carrier family 24 member 5 UMLS:C5681149 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=371861 Genetic hyperaldosteronism Category ORPHA:371861 UMLS:C5681149 E (Exact mapping: the two concepts are equivalent) 9q34.11 CFAP133 DIC5 FAP133 MGC20486 bA216B9.3 ClinVar:WDR34 Ensembl:ENSG00000119333 Genatlas:WDR34 HGNC:28296 OMIM:613363 Reactome:Q96EX3 SwissProt:Q96EX3 DYNC2I2 dynein 2 intermediate chain 2 18q21.33 MEGSIN megsin ClinVar:SERPINB7 Ensembl:ENSG00000166396 Genatlas:SERPINB7 HGNC:13902 OMIM:603357 SwissProt:O75635 SERPINB7 serpin family B member 7 11p15.4 CDHR6 FIB1 FLJ11790 KIAA1773 cadherin-related family member 6 ClinVar:DCHS1 Ensembl:ENSG00000166341 Genatlas:DCHS1 HGNC:13681 OMIM:603057 SwissProt:Q96JQ0 DCHS1 dachsous cadherin-related 1 4q28.1 CDHF14 CDHR11 FAT-J cadherin-related family member 11 ClinVar:FAT4 Ensembl:ENSG00000196159 Genatlas:FAT4 HGNC:23109 OMIM:612411 SwissProt:Q6V0I7 FAT4 FAT atypical cadherin 4 Bladder pain syndrome IC/BPS IC/PBS Interstitial cystitis/bladder pain syndrome Interstitial cystitis/painful bladder syndrome Painful bladder syndrome A rare non-infectious, chronic and most often progressive disease of the urinary bladder. It is characterized by varying combinations and extent of pain, urinary frequency (pollakisuria), nocturia and urgency. Interstitial cystitis (IC) has a broad intersection with Bladder Pain Syndrome (BPS) and Overactive Bladder (OAB). Orphanet ICD-10:N30.1 ICD-11:GC00.3 MeSH:D018856 MedDRA:10011796 UMLS:C0282488 Unknown All ages Europe AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 10.6 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=37202 Interstitial cystitis ORPHA:37202 ICD-10:N30.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GC00.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018856 E (Exact mapping: the two concepts are equivalent) MedDRA:10011796 E (Exact mapping: the two concepts are equivalent) UMLS:C0282488 E (Exact mapping: the two concepts are equivalent) DGSX Golabi-Rosen syndrome SDYS SGBS SGBS1 Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome type 1 X-linked dysplasia gigantism syndrome A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C537340 MedDRA:10085695 OMIM:312870 UMLS:C4317043 X-linked recessive Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=373 Simpson-Golabi-Behmel syndrome ORPHA:373 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537340 E (Exact mapping: the two concepts are equivalent) MedDRA:10085695 E (Exact mapping: the two concepts are equivalent) OMIM:312870 E (Exact mapping: the two concepts are equivalent) UMLS:C4317043 E (Exact mapping: the two concepts are equivalent) Facioauriculovertebral sequence This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculo-auriculo-vertebral spectrum MeSH:D006053 OMIM:164210 Goldenhar syndrome ORPHA:374 MeSH:D006053 E (Exact mapping: the two concepts are equivalent) OMIM:164210 E (Exact mapping: the two concepts are equivalent) Anti-GBM syndrome Goodpasture syndrome A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage. Orphanet ICD-10:M31.0+ ICD-10:N08.5* ICD-11:MF85 MeSH:D019867 MedDRA:10018620 OMIM:233450 UMLS:C0403529 Not applicable Adolescent Adult Elderly China AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 New Zealand AND has_annual_incidence_average_value : 0.179 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=375 Anti-glomerular basement membrane disease ORPHA:375 ICD-10:M31.0+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N08.5* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:MF85 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D019867 E (Exact mapping: the two concepts are equivalent) MedDRA:10018620 E (Exact mapping: the two concepts are equivalent) OMIM:233450 E (Exact mapping: the two concepts are equivalent) UMLS:C0403529 E (Exact mapping: the two concepts are equivalent) Andersen syndrome LQT7 Long QT syndrome type 7 A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. Orphanet ICD-10:G72.3 ICD-11:BC65.0 MeSH:D050030 MedDRA:10083859 OMIM:170390 UMLS:C1563715 Autosomal dominant Childhood Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=37553 Andersen-Tawil syndrome ORPHA:37553 ICD-10:G72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D050030 E (Exact mapping: the two concepts are equivalent) MedDRA:10083859 E (Exact mapping: the two concepts are equivalent) OMIM:170390 E (Exact mapping: the two concepts are equivalent) UMLS:C1563715 E (Exact mapping: the two concepts are equivalent) A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected. Orphanet ICD-10:L67.8 UMLS:C0263486 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=37559 Acquired kinky hair syndrome ORPHA:37559 ICD-10:L67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0263486 E (Exact mapping: the two concepts are equivalent) 1p22.1 BGCAN betaglycan betaglycan proteoglycan ClinVar:TGFBR3 Ensembl:ENSG00000069702 Genatlas:TGFBR3 HGNC:11774 IUPHAR:1796 OMIM:600742 SwissProt:Q03167 TGFBR3 transforming growth factor beta receptor 3 Camptodactyly-cleft palate-clubfoot syndrome Distal arthrogryposis type 3 Distal arthrogryposis type IIA Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C537288 OMIM:114300 UMLS:C0220666 Autosomal dominant Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=376 Gordon syndrome ORPHA:376 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537288 E (Exact mapping: the two concepts are equivalent) OMIM:114300 E (Exact mapping: the two concepts are equivalent) UMLS:C0220666 E (Exact mapping: the two concepts are equivalent) Episodic ataxia with myokymia A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. Orphanet ICD-10:G11.8 ICD-11:8A03.14 MeSH:C563278 OMIM:160120 UMLS:C1719788 Autosomal dominant Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=37612 Episodic ataxia type 1 ORPHA:37612 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563278 E (Exact mapping: the two concepts are equivalent) OMIM:160120 E (Exact mapping: the two concepts are equivalent) UMLS:C1719788 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Severe congenital neutropenia MedDRA:10029358 UMLS:C0543693 Neonatal neutropenia ORPHA:37629 MedDRA:10029358 E (Exact mapping: the two concepts are equivalent) UMLS:C0543693 E (Exact mapping: the two concepts are equivalent) 4q35.1 FLJ12716 foie gras homolog (zebrafish) foigr gry gryzun homolog (Drosophila) ClinVar:TRAPPC11 Ensembl:ENSG00000168538 Genatlas:TRAPPC11 HGNC:25751 OMIM:614138 Reactome:Q7Z392 SwissProt:Q7Z392 TRAPPC11 trafficking protein particle complex subunit 11 1q21.2 H1 h-vps45 ClinVar:VPS45 Ensembl:ENSG00000136631 Genatlas:VPS45 HGNC:14579 OMIM:610035 Reactome:Q9NRW7 SwissProt:Q9NRW7 VPS45 vacuolar protein sorting 45 homolog 1p34.2 FLJ10387 FLJ34502 KICS1 RP11-506B15.1 SZT2A SZT2B seizure threshold 2 homolog A (mouse) seizure threshold 2 homolog B (mouse) ClinVar:SZT2 Ensembl:ENSG00000198198 Genatlas:SZT2 HGNC:29040 OMIM:615463 SwissProt:Q5T011 SZT2 SZT2 subunit of KICSTOR complex 6q16.1-q16.2 FBL4 FBL5 ClinVar:FBXL4 Ensembl:ENSG00000112234 Genatlas:FBXL4 HGNC:13601 OMIM:605654 Reactome:Q9UKA2 SwissProt:Q9UKA2 FBXL4 F-box and leucine rich repeat protein 4 1q32.1 DKFZP564B1023 ZNHIT5 zinc finger HIT-type containing 5 ClinVar:DDX59 Ensembl:ENSG00000118197 Genatlas:DDX59 HGNC:25360 OMIM:615464 SwissProt:Q5T1V6 DDX59 DEAD-box helicase 59 6q14.1 GP147 IPM150 ClinVar:IMPG1 Ensembl:ENSG00000112706 Genatlas:IMPG1 HGNC:6055 OMIM:602870 SwissProt:Q17R60 IMPG1 interphotoreceptor matrix proteoglycan 1 1p13.3 AMPD isoform L SPG63 ClinVar:AMPD2 Ensembl:ENSG00000116337 Genatlas:AMPD2 HGNC:469 OMIM:102771 Reactome:Q01433 SwissProt:Q01433 AMPD2 adenosine monophosphate deaminase 2 Xq28 6C6-Ag BAP31 CDM DXS1357E ClinVar:BCAP31 Ensembl:ENSG00000185825 Genatlas:BCAP31 HGNC:16695 OMIM:300398 Reactome:P51572 SwissProt:P51572 BCAP31 B cell receptor associated protein 31 16q23.1 ClinVar:ADAMTS18 Ensembl:ENSG00000140873 Genatlas:ADAMTS18 HGNC:17110 IUPHAR:1690 OMIM:607512 Reactome:Q8TE60 SwissProt:Q8TE60 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 15q25.1 KIAA0307 bHLHe1 ClinVar:ARNT2 Ensembl:ENSG00000172379 Genatlas:ARNT2 HGNC:16876 OMIM:606036 Reactome:Q9HBZ2 SwissProt:Q9HBZ2 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 8p11.21 MOZ Monocytic leukemia zinc finger protein ZC2HC6A ClinVar:KAT6A Ensembl:ENSG00000083168 Genatlas:KAT6A HGNC:13013 IUPHAR:2665 OMIM:601408 Reactome:Q92794 SwissProt:Q92794 KAT6A lysine acetyltransferase 6A 20p11.22 ClinVar:PAX1 Ensembl:ENSG00000125813 Genatlas:PAX1 HGNC:8615 OMIM:167411 SwissProt:P15863 PAX1 paired box 1 19q13.2 COQ8 FLJ12229 ClinVar:ADCK4 Ensembl:ENSG00000123815 Genatlas:ADCK4 HGNC:19041 IUPHAR:1928 OMIM:615567 SwissProt:Q96D53 COQ8B coenzyme Q8B 3p24.2 EC45 L15 RPL10 RPLY10 RPYL10 eL15 ClinVar:RPL15 Ensembl:ENSG00000174748 Genatlas:RPL15 HGNC:10306 OMIM:604174 Reactome:P61313 SwissProt:P61313 RPL15 ribosomal protein L15 UMLS:C5681147 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=376724 Generalized isolated dystonia Category ORPHA:376724 UMLS:C5681147 E (Exact mapping: the two concepts are equivalent) 13q32.3-q33.1 CanIon bA430M15.1 ClinVar:NALCN Ensembl:ENSG00000102452 Genatlas:NALCN HGNC:19082 IUPHAR:750 OMIM:611549 Reactome:Q8IZF0 SwissProt:Q8IZF0 NALCN sodium leak channel, non-selective 5q32 FLJ10595 FLJ21788 HSPC192 LARS1 LEUS RNTLS leucine tRNA ligase 1, cytoplasmic ClinVar:LARS Ensembl:ENSG00000133706 Genatlas:LARS HGNC:6512 OMIM:151350 Reactome:Q9P2J5 SwissProt:Q9P2J5 LARS1 leucyl-tRNA synthetase 1 12q13.3 CMT2U MetRS Methionine--tRNA ligase, cytoplasmic SPG70 methionine tRNA ligase 1, cytoplasmic ClinVar:MARS Ensembl:ENSG00000166986 Genatlas:MARS HGNC:6898 OMIM:156560 Reactome:P56192 SwissProt:P56192 MARS1 methionyl-tRNA synthetase 1 4q31.21 ISWI hISWI hSNF2H ClinVar:SMARCA5 Ensembl:ENSG00000153147 Genatlas:SMARCA5 HGNC:11101 OMIM:603375 Reactome:O60264 SwissProt:O60264 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 4q34.3 VEGF-C VRP vascular endothelial growth factor-related protein ClinVar:VEGFC Ensembl:ENSG00000150630 Genatlas:VEGFC HGNC:12682 OMIM:601528 Reactome:P49767 SwissProt:P49767 VEGFC vascular endothelial growth factor C 16p12.3 PXYLT1 XT-I protein xylosyltransferase 1 ClinVar:XYLT1 Ensembl:ENSG00000103489 Genatlas:XYLT1 HGNC:15516 OMIM:608124 Reactome:Q86Y38 SwissProt:Q86Y38 XYLT1 xylosyltransferase 1 20p13 dJ852M4.2 ClinVar:TBC1D20 Ensembl:ENSG00000125875 Genatlas:TBC1D20 HGNC:16133 OMIM:611663 Reactome:Q96BZ9 SwissProt:Q96BZ9 TBC1D20 TBC1 domain family member 20 11q12.1 CANP ClinVar:FAM111B Ensembl:ENSG00000189057 Genatlas:FAM111B HGNC:24200 OMIM:615584 Reactome:Q6SJ93 SwissProt:Q6SJ93 FAM111B FAM111 trypsin like peptidase B 6p24.1 ET1 ClinVar:EDN1 Ensembl:ENSG00000078401 Genatlas:EDN1 HGNC:3176 OMIM:131240 Reactome:P05305 SwissProt:P05305 EDN1 endothelin 1 2q31.1 Krp1 SARCOSIN sarcomeric muscle protein ClinVar:KLHL41 Ensembl:ENSG00000239474 Genatlas:KLHL41 HGNC:16905 OMIM:607701 Reactome:O60662 SwissProt:O60662 KLHL41 kelch like family member 41 Basal cell nevus syndrome Gorlin-Goltz syndrome NBCCS Nevoid basal cell carcinoma syndrome A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. Orphanet ICD-10:C44.9 ICD-11:LD2D.4 MeSH:D001478 MedDRA:10062804 OMIM:109400 UMLS:C0004779 Autosomal dominant Adolescent Adult Australia AND has_point_prevalence_average_value : 0.61 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 0.39 AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.007 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 5.3 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=377 Gorlin syndrome ORPHA:377 ICD-10:C44.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001478 E (Exact mapping: the two concepts are equivalent) MedDRA:10062804 E (Exact mapping: the two concepts are equivalent) OMIM:109400 E (Exact mapping: the two concepts are equivalent) UMLS:C0004779 E (Exact mapping: the two concepts are equivalent) 7q21.2 PLSTIRE ClinVar:CDK6 Ensembl:ENSG00000105810 Genatlas:CDK6 HGNC:1777 IUPHAR:1978 OMIM:603368 Reactome:Q00534 SwissProt:Q00534 CDK6 cyclin dependent kinase 6 10p12.33 CAP Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 cementum attachment protein ClinVar:PTPLA Ensembl:ENSG00000165996 Genatlas:PTPLA HGNC:9639 OMIM:610467 Reactome:B0YJ81 SwissProt:B0YJ81 HACD1 3-hydroxyacyl-CoA dehydratase 1 Xq28 TRAPD translocon-associated protein delta ClinVar:SSR4 Ensembl:ENSG00000180879 Genatlas:SSR4 HGNC:11326 OMIM:300090 Reactome:P51571 SwissProt:P51571 SSR4 signal sequence receptor subunit 4 3q22.1 KIAA0620 ClinVar:PLXND1 Ensembl:ENSG00000004399 Genatlas:PLXND1 HGNC:9107 OMIM:604282 Reactome:Q9Y4D7 SwissProt:Q9Y4D7 PLXND1 plexin D1 Chronic urticaria with gammopathy Chronic urticaria with macroglobulinemia Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. Orphanet ICD-10:L50.8 ICD-11:EB03 MeSH:D019873 MedDRA:10062908 UMLS:C0524988 Not applicable Adult Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=37748 Schnitzler syndrome ORPHA:37748 ICD-10:L50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019873 E (Exact mapping: the two concepts are equivalent) MedDRA:10062908 E (Exact mapping: the two concepts are equivalent) UMLS:C0524988 E (Exact mapping: the two concepts are equivalent) 5q23.3-q31.1 FLJ20796 MZM1L Ensembl:ENSG00000186687 HGNC:28072 OMIM:615831 Reactome:Q5U5X0 SwissProt:Q5U5X0 LYRM7 LYR motif containing 7 10p12.2 PIP5KIIA PIP5KIIalpha ClinVar:PIP4K2A Ensembl:ENSG00000150867 Genatlas:PIP4K2A HGNC:8997 IUPHAR:2858 OMIM:603140 Reactome:P48426 SwissProt:P48426 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha 6q27 BN-1 CD196 CKR-L3 CMKBR6 DCR2 DRY-6 GPR-CY4 GPR29 ClinVar:CCR6 Ensembl:ENSG00000112486 Genatlas:CCR6 HGNC:1607 IUPHAR:63 OMIM:601835 Reactome:P51684 SwissProt:P51684 CCR6 C-C motif chemokine receptor 6 11q24.2 MGC9042 STT3-A TMC dolichyl-diphosphooligosaccharide protein glycotransferase ClinVar:STT3A Ensembl:ENSG00000134910 Genatlas:STT3A HGNC:6172 OMIM:601134 Reactome:P46977 SwissProt:P46977 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A 3p23 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B FLJ90106 SIMP STT3-B dolichyl-diphosphooligosaccharide protein glycotransferase source of immunodominant MHC associated peptides ClinVar:STT3B Ensembl:ENSG00000163527 Genatlas:STT3B HGNC:30611 OMIM:608605 SwissProt:Q8TCJ2 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B 2q35 ClinVar:GMPPA Ensembl:ENSG00000144591 Genatlas:GMPPA HGNC:22923 OMIM:615495 Reactome:Q96IJ6 SwissProt:Q96IJ6 GMPPA GDP-mannose pyrophosphorylase A 19p13.11 B16.6 CDA016 CGI-39 GRIM-19 GRIM19 complex I B16.6 subunit ClinVar:NDUFA13 Ensembl:ENSG00000186010 Genatlas:NDUFA13 HGNC:17194 OMIM:609435 Reactome:Q9P0J0 SwissProt:Q9P0J0 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 A disorder with homogeneous therapeutic possibilities and an identified pathophysiological mechanism. Developmental anomalies are excluded. Disease disease A disorder resulting from a developmental anomaly involving more than one morphogenetic field. Malformative sequences and associations are included. Malformation syndrome malformation syndrome A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations. Biological anomaly biological anomaly A disorder characterised by a morphological alteration resulting from a development anomaly involving a single morphogenetic field. Morphological anomaly morphological anomaly A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism involved. Clinical syndrome clinical syndrome A set of phenotypic abnormalities presenting in a subset of patients under particular circumstances. Particular clinical situation in a disease or syndrome particular clinical situation in a disease or syndrome NON RARE IN EUROPE: Sicca syndrome NON RARE IN EUROPE: Sjögren-Gougerot syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:M35.0 NON RARE IN EUROPE: Sjögren syndrome ORPHA:378 ICD-10:M35.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). CGD Chronic septic granulomatosis A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. Orphanet ICD-10:D71 ICD-11:4A00.0Y MeSH:D006105 MedDRA:10008906 OMIM:233690 OMIM:233700 OMIM:233710 OMIM:306400 OMIM:613960 OMIM:618935 UMLS:C0018203 Autosomal recessive X-linked recessive Adolescent Adult Childhood Infancy Australia AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.57 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000 Israel AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.35 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_range : 1-9 / 1 000 000 Latin America AND has_birth_prevalence_average_value : 0.99 AND has_birth_prevalence_range : 1-9 / 1 000 000 Latin America AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=379 Chronic granulomatous disease ORPHA:379 ICD-10:D71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006105 E (Exact mapping: the two concepts are equivalent) MedDRA:10008906 E (Exact mapping: the two concepts are equivalent) OMIM:233690 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:233700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:233710 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:306400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613960 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618935 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0018203 E (Exact mapping: the two concepts are equivalent) AKE PPKP3 Punctate palmoplantar hyperkeratosis type 3 Punctate palmoplantar keratoderma type 3 A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial. Orphanet ICD-10:Q82.8 ICD-11:EC20.32 MeSH:C535653 OMIM:101850 UMLS:C0545044 Autosomal dominant Not applicable Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=38 Acrokeratoelastoidosis of Costa ORPHA:38 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535653 E (Exact mapping: the two concepts are equivalent) OMIM:101850 E (Exact mapping: the two concepts are equivalent) UMLS:C0545044 E (Exact mapping: the two concepts are equivalent) GCPS A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome. Orphanet ICD-10:Q87.0 ICD-11:LD26.2 MeSH:C537300 MedDRA:10053878 OMIM:175700 UMLS:C0265306 Autosomal dominant Antenatal Europe AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=380 Greig cephalopolysyndactyly syndrome ORPHA:380 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537300 E (Exact mapping: the two concepts are equivalent) MedDRA:10053878 E (Exact mapping: the two concepts are equivalent) OMIM:175700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0265306 E (Exact mapping: the two concepts are equivalent) Chédiak-Higashi-like syndrome Griscelli-Pruniéras syndrome Partial albinism-immunodeficiency syndrome Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3). Orphanet ICD-10:E70.3 MedDRA:10081517 OMIM:214450 OMIM:607624 OMIM:609227 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=381 Griscelli syndrome ORPHA:381 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10081517 E (Exact mapping: the two concepts are equivalent) OMIM:214450 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607624 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609227 BTNT (ORPHAcode is broader than the targeted code used to represent it) GAMT deficiency Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. Orphanet ICD-10:E72.8 ICD-11:5C53.4 MeSH:C537622 OMIM:612736 UMLS:C0574080 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=382 Guanidinoacetate methyltransferase deficiency ORPHA:382 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537622 E (Exact mapping: the two concepts are equivalent) OMIM:612736 E (Exact mapping: the two concepts are equivalent) UMLS:C0574080 E (Exact mapping: the two concepts are equivalent) Conductive deafness with stapes fixation DFNX2 Nance deafness X-linked deafness type 2 X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss X-linked stapes gusher syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked non-syndromic sensorineural deafness type DFN OMIM:304400 UMLS:C1844678 X-linked mixed deafness with perilymphatic gusher ORPHA:383 OMIM:304400 E (Exact mapping: the two concepts are equivalent) UMLS:C1844678 E (Exact mapping: the two concepts are equivalent) Palmoplantar hyperkeratosis-sclerodactyly syndrome Palmoplantar keratoderma-sclerodactyly syndrome Scleroatrophic syndrome Sclerotylosis A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 MeSH:C537526 MedDRA:10070504 OMIM:181600 UMLS:C0406767 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=384 Huriez syndrome ORPHA:384 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537526 E (Exact mapping: the two concepts are equivalent) MedDRA:10070504 E (Exact mapping: the two concepts are equivalent) OMIM:181600 E (Exact mapping: the two concepts are equivalent) UMLS:C0406767 E (Exact mapping: the two concepts are equivalent) NBIA Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. Orphanet MeSH:C538421 UMLS:C2931845 Autosomal dominant Autosomal recessive X-linked dominant Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=385 Neurodegeneration with brain iron accumulation Clinical group ORPHA:385 MeSH:C538421 E (Exact mapping: the two concepts are equivalent) UMLS:C2931845 E (Exact mapping: the two concepts are equivalent) Biliary hamartoma MHL Mesenchymal hamartoma of liver VMC Von Meyenburg complexes disease Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression). Orphanet ICD-10:D13.4 ICD-11:2E92.7 MedDRA:10074610 UMLS:C1333971 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=386 Hepatic cystic hamartoma ORPHA:386 ICD-10:D13.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10074610 E (Exact mapping: the two concepts are equivalent) UMLS:C1333971 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Acne inversa NON RARE IN EUROPE: Ectopic acne NON RARE IN EUROPE: Fox den disease NON RARE IN EUROPE: Pyoderma fistulans significa NON RARE IN EUROPE: Verneuil disease This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:L73.2 NON RARE IN EUROPE: Hidradenitis suppurativa ORPHA:387 ICD-10:L73.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Aganglionic megacolon Colonic aganglionosis Congenital intestinal aganglionosis HSCR A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. Orphanet ICD-10:Q43.1 ICD-11:LB16.1 MeSH:D006627 MedDRA:10010539 OMIM:142623 OMIM:600155 OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 OMIM:613711 OMIM:613712 UMLS:C0019569 Autosomal dominant Autosomal recessive Multigenic/multifactorial Not applicable Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 13.2 AND has_point_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=388 Hirschsprung disease ORPHA:388 ICD-10:Q43.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB16.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006627 E (Exact mapping: the two concepts are equivalent) MedDRA:10010539 E (Exact mapping: the two concepts are equivalent) OMIM:142623 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600155 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600156 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606874 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606875 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608462 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611644 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613711 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613712 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0019569 E (Exact mapping: the two concepts are equivalent) Dihydropyrimidinase deficiency Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. Orphanet ICD-10:E79.8 ICD-11:5C55.1 OMIM:222748 UMLS:C3495551 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=38874 Dihydropyrimidinuria ORPHA:38874 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:222748 E (Exact mapping: the two concepts are equivalent) UMLS:C3495551 E (Exact mapping: the two concepts are equivalent) Histiocytosis X Langerhans cell granulomatosis A rare systemic disease characterized by the accumulation (usually organized in granulomas) of macrophage, bearing the features of Langerhans cells in various tissues. Orphanet ICD-10:C96.0 ICD-10:C96.5 ICD-10:C96.6 ICD-11:2B31.2 ICD-11:2B31.20 ICD-11:2B31.2Y MeSH:D006646 MedDRA:10069698 OMIM:604856 UMLS:C0019621 Unknown All ages Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=389 Langerhans cell histiocytosis ORPHA:389 ICD-10:C96.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C96.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C96.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B31.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B31.20 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B31.2Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006646 E (Exact mapping: the two concepts are equivalent) MedDRA:10069698 E (Exact mapping: the two concepts are equivalent) OMIM:604856 E (Exact mapping: the two concepts are equivalent) UMLS:C0019621 E (Exact mapping: the two concepts are equivalent) A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life. Orphanet ICD-10:L81.4 UMLS:C0406779 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=39 Acromelanosis ORPHA:39 ICD-10:L81.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0406779 E (Exact mapping: the two concepts are equivalent) Darling disease A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of <i>Histoplasma capsulatum</i>. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others. Orphanet ICD-10:B39.0 ICD-10:B39.1 ICD-10:B39.2 ICD-10:B39.3 ICD-10:B39.4 ICD-10:B39.5 ICD-10:B39.9 ICD-11:1F2A MeSH:D006660 MedDRA:10020141 UMLS:C0019655 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=390 Histoplasmosis ORPHA:390 ICD-10:B39.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B39.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B39.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B39.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B39.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B39.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B39.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006660 E (Exact mapping: the two concepts are equivalent) MedDRA:10020141 E (Exact mapping: the two concepts are equivalent) UMLS:C0019655 E (Exact mapping: the two concepts are equivalent) Combined immunodeficiency with hypereosinophilia Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term). Orphanet ICD-10:D81.8 ICD-11:4A01.10 MedDRA:10069097 OMIM:603554 UMLS:C2700553 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=39041 Omenn syndrome ORPHA:39041 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069097 E (Exact mapping: the two concepts are equivalent) OMIM:603554 E (Exact mapping: the two concepts are equivalent) UMLS:C2700553 E (Exact mapping: the two concepts are equivalent) Choroid melanoma Choroidal and ciliary body melanomas Melanoma of choroid Melanoma of uvea Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis. Orphanet ICD-10:C69.3 ICD-11:2D0Y MeSH:C536494 MedDRA:10061252 OMIM:155720 OMIM:606660 OMIM:606661 UMLS:C0220633 Not applicable Adult Africa AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 6.0 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=39044 Uveal melanoma ORPHA:39044 ICD-10:C69.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536494 E (Exact mapping: the two concepts are equivalent) MedDRA:10061252 E (Exact mapping: the two concepts are equivalent) OMIM:155720 E (Exact mapping: the two concepts are equivalent) OMIM:606660 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606661 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220633 E (Exact mapping: the two concepts are equivalent) 8q13.1-q13.2 CSPP CSPP-L FLJ22490 JBTS21 ClinVar:CSPP1 Ensembl:ENSG00000104218 Genatlas:CSPP1 HGNC:26193 OMIM:611654 SwissProt:Q1MSJ5 CSPP1 centrosome and spindle pole associated protein 1 10q25.2 BBIP10 BBS18 bA348N5.3 Ensembl:ENSG00000214413 HGNC:28093 OMIM:613605 Reactome:A8MTZ0 SwissProt:A8MTZ0 BBIP1 BBSome interacting protein 1 17q25.3 EIF4AIII Fal1 KIAA0111 ClinVar:EIF4A3 Ensembl:ENSG00000141543 Genatlas:EIF4A3 HGNC:18683 OMIM:608546 Reactome:P38919 SwissProt:P38919 EIF4A3 eukaryotic translation initiation factor 4A3 1p36.11 SOM sister-of-mammalian grainyhead ClinVar:GRHL3 Ensembl:ENSG00000158055 Genatlas:GRHL3 HGNC:25839 OMIM:608317 Reactome:Q8TE85 SwissProt:Q8TE85 GRHL3 grainyhead like transcription factor 3 10q21.3 MGC26194 VR22 alpha-T-catenin ClinVar:CTNNA3 Ensembl:ENSG00000183230 Genatlas:CTNNA3 HGNC:2511 OMIM:607667 SwissProt:Q9UI47 CTNNA3 catenin alpha 3 9q34.13 ZNF163B ClinVar:GFI1B Ensembl:ENSG00000165702 Genatlas:GFI1B HGNC:4238 OMIM:604383 Reactome:Q5VTD9 SwissProt:Q5VTD9 GFI1B growth factor independent 1B transcriptional repressor Classic Hodgkin disease Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. Orphanet ICD-10:C81.0 ICD-10:C81.1 ICD-10:C81.2 ICD-10:C81.3 ICD-10:C81.4 ICD-10:C81.7 ICD-10:C81.9 ICD-11:2B30.1 OMIM:236000 OMIM:300221 OMIM:400021 UMLS:C1333064 Unknown All ages Austria AND has_annual_incidence_average_value : 2.012 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 2.443 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 2.083 AND has_annual_incidence_range : 1-9 / 100 000 China AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 2.923 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 2.418 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 2.392 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 2.463 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 22.9 AND has_lifetime_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 2.232 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.95 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 2.333 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 2.599 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 2.355 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 3.361 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 1.868 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 2.372 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 2.701 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 2.27 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 2.267 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 2.435 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 2.261 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 2.265 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 2.617 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 3.091 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 2.504 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391 Classic Hodgkin lymphoma ORPHA:391 ICD-10:C81.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C81.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C81.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C81.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C81.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C81.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C81.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B30.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:236000 E (Exact mapping: the two concepts are equivalent) OMIM:300221 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:400021 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1333064 E (Exact mapping: the two concepts are equivalent) 13q34 PZ ClinVar:PROZ Ensembl:ENSG00000126231 Genatlas:PROZ HGNC:9460 OMIM:176895 Reactome:P22891 SwissProt:P22891 PROZ protein Z, vitamin K dependent plasma glycoprotein A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic. Orphanet ICD-10:Q87.8 OMIM:615541 UMLS:C4750851 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ORPHA:391307 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615541 E (Exact mapping: the two concepts are equivalent) UMLS:C4750851 E (Exact mapping: the two concepts are equivalent) Predisposition to severe viral infection due to STAT1 deficiency STAT1 deficiency A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections. Orphanet ICD-10:D84.8 OMIM:613796 UMLS:C4755296 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency ORPHA:391311 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613796 E (Exact mapping: the two concepts are equivalent) UMLS:C4755296 E (Exact mapping: the two concepts are equivalent) Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. Orphanet ICD-10:G40.2 UMLS:C4750853 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression ORPHA:391316 ICD-10:G40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750853 E (Exact mapping: the two concepts are equivalent) FV East Texas bleeding disorder Factor V East Texas bleeding disorder East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity. Orphanet ICD-10:D68.2 ICD-11:3B14.Z OMIM:605913 UMLS:C4750854 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391320 East Texas bleeding disorder Etiological subtype ORPHA:391320 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605913 E (Exact mapping: the two concepts are equivalent) UMLS:C4750854 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:M85.2 OMIM:302030 UMLS:C5190611 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391327 X-linked calvarial hyperostosis ORPHA:391327 ICD-10:M85.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:302030 E (Exact mapping: the two concepts are equivalent) UMLS:C5190611 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. Orphanet ICD-10:M80.5 OMIM:300910 UMLS:C5190610 X-linked recessive Childhood Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391330 X-linked osteoporosis with fractures ORPHA:391330 ICD-10:M80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300910 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C5190610 E (Exact mapping: the two concepts are equivalent) 9q33.1 MGC167029 TN hexabrachion (tenascin) ClinVar:TNC Ensembl:ENSG00000041982 Genatlas:TNC HGNC:5318 OMIM:187380 Reactome:P24821 SwissProt:P24821 TNC tenascin C A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia. Orphanet ICD-10:G04.8 UMLS:C4751597 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391343 Fatal post-viral neurodegenerative disorder ORPHA:391343 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751597 E (Exact mapping: the two concepts are equivalent) A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Orphanet ICD-10:E88.8 OMIM:615578 UMLS:C4751596 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ORPHA:391348 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615578 E (Exact mapping: the two concepts are equivalent) UMLS:C4751596 E (Exact mapping: the two concepts are equivalent) CMT4K Charcot-Marie-Tooth disease type 4K SURF1-related CMT4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). Orphanet ICD-10:G60.0 OMIM:616684 UMLS:C4225246 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391351 SURF1-related Charcot-Marie-Tooth disease type 4 ORPHA:391351 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616684 E (Exact mapping: the two concepts are equivalent) UMLS:C4225246 E (Exact mapping: the two concepts are equivalent) Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia. Orphanet ICD-10:K73.8 UMLS:C4751595 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome ORPHA:391366 ICD-10:K73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751595 E (Exact mapping: the two concepts are equivalent) FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Orphanet ICD-10:Q87.0 OMIM:613670 UMLS:C4751594 Infancy Neonatal Worldwide AND has_cases/families_value : 48.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391372 FOXP1 Syndrome ORPHA:391372 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613670 E (Exact mapping: the two concepts are equivalent) UMLS:C4751594 E (Exact mapping: the two concepts are equivalent) Asparagine synthetase deficiency A rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. Orphanet ICD-10:E72.8 OMIM:615574 UMLS:C3809971 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome ORPHA:391376 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615574 E (Exact mapping: the two concepts are equivalent) UMLS:C3809971 E (Exact mapping: the two concepts are equivalent) UMLS:C5681155 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391381 Disorder of asparagine metabolism Category ORPHA:391381 UMLS:C5681155 E (Exact mapping: the two concepts are equivalent) FEPS A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated. Orphanet ICD-10:M79.6 ICD-11:MG31.Y OMIM:615040 OMIM:615552 UMLS:C5190598 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391384 Familial episodic pain syndrome ORPHA:391384 ICD-10:M79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MG31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615040 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615552 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190598 E (Exact mapping: the two concepts are equivalent) A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence. Orphanet ICD-10:M79.6 ICD-11:MG31.Y OMIM:615040 UMLS:C3808667 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391389 Familial episodic pain syndrome with predominantly upper body involvement Clinical subtype ORPHA:391389 ICD-10:M79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MG31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615040 E (Exact mapping: the two concepts are equivalent) UMLS:C3808667 E (Exact mapping: the two concepts are equivalent) A subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area. Orphanet ICD-10:M79.6 ICD-11:MG31.Y OMIM:615552 UMLS:C3809899 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391392 Familial episodic pain syndrome with predominantly lower limb involvement Clinical subtype ORPHA:391392 ICD-10:M79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MG31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615552 E (Exact mapping: the two concepts are equivalent) UMLS:C3809899 E (Exact mapping: the two concepts are equivalent) CIP with hyperhidrosis and gastrointestinal dysfunction Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction HSAN with hyperhidrosis and gastrointestinal dysfunction HSAN7 Hereditary sensory and autonomic neuropathy type VII Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal. Orphanet ICD-10:G60.8 OMIM:615548 UMLS:C3809882 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391397 Hereditary sensory and autonomic neuropathy type 7 ORPHA:391397 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615548 E (Exact mapping: the two concepts are equivalent) UMLS:C3809882 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. Orphanet ICD-10:Q87.8 OMIM:616033 OMIM:616817 UMLS:C5190597 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616033 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616817 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190597 E (Exact mapping: the two concepts are equivalent) A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. Orphanet ICD-10:G20 OMIM:615528 OMIM:615530 UMLS:C4510873 Autosomal recessive Not applicable Adolescent Adult Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391411 Atypical juvenile parkinsonism ORPHA:391411 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615528 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615530 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4510873 E (Exact mapping: the two concepts are equivalent) 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency HSD10 deficiency MHBD deficiency HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. Orphanet ICD-10:E72.8 ICD-11:5C52.01 MeSH:C564560 OMIM:300438 UMLS:C3266731 X-linked dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391417 HSD10 disease ORPHA:391417 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564560 E (Exact mapping: the two concepts are equivalent) OMIM:300438 E (Exact mapping: the two concepts are equivalent) UMLS:C3266731 E (Exact mapping: the two concepts are equivalent) 2-methyl-3-hydroxybutyric aciduria, classic type 2-methyl-3-hydroxybutyric aciduria, infantile type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type HSD10 deficiency, classic type HSD10 deficiency, infantile type HSD10 disease, classic type MHBD deficiency, classic type MHBD deficiency, infantile type A clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age. Orphanet ICD-10:E72.8 ICD-11:5C52.01 OMIM:300438 UMLS:C5680025 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391428 HSD10 disease, infantile type Clinical subtype ORPHA:391428 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300438 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680025 E (Exact mapping: the two concepts are equivalent) 2-methyl-3-hydroxybutyric aciduria, neonatal type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type HSD10 deficiency, neonatal type MHBD deficiency, neonatal type HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. Orphanet ICD-10:E72.8 ICD-11:5C52.01 OMIM:300438 UMLS:C5680026 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391457 HSD10 disease, neonatal type Clinical subtype ORPHA:391457 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300438 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680026 E (Exact mapping: the two concepts are equivalent) 3q29 CCTalpha CT CTP:phosphocholine cytidylyltransferase-alpha CTPCT choline-phosphate cytidylyltransferase alpha phosphorylcholine transferase alpha ClinVar:PCYT1A Ensembl:ENSG00000161217 Genatlas:PCYT1A HGNC:8754 OMIM:123695 Reactome:P49585 SwissProt:P49585 PCYT1A phosphate cytidylyltransferase 1A, choline ALX3-related frontonasal dysplasia Frontonasal dysplasia type 1 Isolated median cleft face syndrome A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. Orphanet ICD-10:Q75.8 OMIM:136760 UMLS:C5574965 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391474 Frontorhiny ORPHA:391474 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:136760 E (Exact mapping: the two concepts are equivalent) UMLS:C5574965 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Syndromic median cleft syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Frontonasal dysplasia OBSOLETE: Syndromic frontonasal dysplasia ORPHA:391479 An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. Orphanet ICD-10:K63.9 OMIM:614162 UMLS:C4302671 Autosomal dominant Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 5.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487 ICD-10:K63.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614162 E (Exact mapping: the two concepts are equivalent) UMLS:C4302671 E (Exact mapping: the two concepts are equivalent) Adult-onset acquired myasthenia Adult-onset autoimmune myasthenia gravis A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. Orphanet ICD-10:G70.0 ICD-11:8C60 UMLS:C5680024 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_range : 1-5 / 10 000 Serbia AND has_annual_incidence_average_value : 1.33 AND has_annual_incidence_range : 1-9 / 100 000 Serbia AND has_point_prevalence_average_value : 31.8 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 28.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 17.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391490 Adult-onset myasthenia gravis Clinical subtype ORPHA:391490 ICD-10:G70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680024 E (Exact mapping: the two concepts are equivalent) Childhood myasthenia gravis Juvenile acquired myasthenia Juvenile autoimmune myasthenia gravis Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age. Orphanet ICD-10:G70.0 ICD-11:8C60 UMLS:C5680023 Not applicable Adolescent Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391497 Juvenile myasthenia gravis Clinical subtype ORPHA:391497 ICD-10:G70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680023 E (Exact mapping: the two concepts are equivalent) NMG Neonatal myasthenia gravis Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies. Orphanet ICD-10:P94.0 ICD-11:KB08.0 UMLS:C0495465 Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391504 Transient neonatal myasthenia gravis Clinical subtype ORPHA:391504 ICD-10:P94.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB08.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0495465 E (Exact mapping: the two concepts are equivalent) 15q15.1 GCN2 KIAA1338 eIF-2-alpha kinase ClinVar:EIF2AK4 Ensembl:ENSG00000128829 Genatlas:EIF2AK4 HGNC:19687 IUPHAR:2018 OMIM:609280 SwissProt:Q9P2K8 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 8q22.1 KIAA0024 PSS1 PSSA ClinVar:PTDSS1 Ensembl:ENSG00000156471 Genatlas:PTDSS1 HGNC:9587 OMIM:612792 Reactome:P48651 SwissProt:P48651 PTDSS1 phosphatidylserine synthase 1 Brunner-Winter syndrome type 1 Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 FGLDS1 FS1 MMT type 1 MODED syndrome type 1 Microcephaly-digital anomalies-normal intelligence syndrome type 1 Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 ODED syndrome type 1 Oculo-digito-esophageal-duodenal syndrome type 1 A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:164280 UMLS:C4551774 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 120.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391641 Feingold syndrome type 1 Clinical subtype ORPHA:391641 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:164280 E (Exact mapping: the two concepts are equivalent) UMLS:C4551774 E (Exact mapping: the two concepts are equivalent) Brachydactyly-short stature-microcephaly syndrome Brunner-Winter syndrome type 2 FGLDS2 FS2 MMT type 2 Microcephaly-digital anomalies-normal intelligence syndrome type 2 Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2 A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:614326 UMLS:C3280489 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391646 Feingold syndrome type 2 Clinical subtype ORPHA:391646 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614326 E (Exact mapping: the two concepts are equivalent) UMLS:C3280489 E (Exact mapping: the two concepts are equivalent) A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential. Orphanet ICD-10:D18.0 ICD-11:2E81.0Z MeSH:D005918 MedDRA:10018381 UMLS:C0017653 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391651 Glomus tumor ORPHA:391651 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2E81.0Z - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005918 E (Exact mapping: the two concepts are equivalent) MedDRA:10018381 E (Exact mapping: the two concepts are equivalent) UMLS:C0017653 E (Exact mapping: the two concepts are equivalent) A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure. Orphanet ICD-10:G20 UMLS:C5681154 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 4.15 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391655 Off-periods in Parkinson disease not responding to oral treatment ORPHA:391655 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681154 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Human infection by orthopoxvirus OBSOLETE: Cowpox infection ORPHA:391658 HoFH A rare disorder of lipid metabolism characterized by severely elevated plasma total cholesterol, low-density lipoprotein (LDL) cholesterol levels, and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of premature cardiovascular disease and death. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction and aortic valvular disease. Orphanet ICD-10:E78.0 ICD-11:5C80.00 MeSH:D000090542 MedDRA:10057080 OMIM:143890 OMIM:144010 OMIM:602247 OMIM:603813 UMLS:C0342881 Autosomal dominant Autosomal recessive Neonatal Denmark AND has_point_prevalence_average_value : 0.625 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.125 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.5842 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.3194 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391665 Homozygous familial hypercholesterolemia ORPHA:391665 ICD-10:E78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C80.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000090542 E (Exact mapping: the two concepts are equivalent) MedDRA:10057080 E (Exact mapping: the two concepts are equivalent) OMIM:143890 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:144010 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602247 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603813 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342881 E (Exact mapping: the two concepts are equivalent) A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of sepsis. Radiographic features include pneumatosis intestinalis, portal venous gas, presence of fixed, dilated intestinal loops, bowel wall edema, and (in case of bowel perforation) pneumoperitoneum. Orphanet ICD-10:P77 ICD-11:KB88 MeSH:D020345 UMLS:C0520459 Not applicable Neonatal Worldwide AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391673 Necrotizing enterocolitis ORPHA:391673 ICD-10:P77 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB88 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020345 E (Exact mapping: the two concepts are equivalent) UMLS:C0520459 E (Exact mapping: the two concepts are equivalent) SOPH syndrome A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis. Orphanet ICD-10:Q87.1 OMIM:614800 UMLS:C3541319 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 39.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome ORPHA:391677 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614800 E (Exact mapping: the two concepts are equivalent) UMLS:C3541319 E (Exact mapping: the two concepts are equivalent) 19p13.13 CALR1 CRT FLJ26680 RO SSA Sicca syndrome antigen A (autoantigen Ro; calreticulin) autoantigen Ro cC1qR calregulin ClinVar:CALR Ensembl:ENSG00000179218 Genatlas:CALR HGNC:1455 OMIM:109091 Reactome:P27797 SwissProt:P27797 CALR calreticulin UMLS:C5681153 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391711 Persistent combined dystonia Clinical group ORPHA:391711 UMLS:C5681153 E (Exact mapping: the two concepts are equivalent) Appendiceal mucinous adenocarcinoma Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present. Orphanet ICD-10:C18.1 ICD-11:2B81.00 MedDRA:10073361 UMLS:C1706832 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391723 Mucinous adenocarcinoma of the appendix ORPHA:391723 ICD-10:C18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B81.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10073361 E (Exact mapping: the two concepts are equivalent) UMLS:C1706832 E (Exact mapping: the two concepts are equivalent) Rare genetic dystonic disorder UMLS:C5680022 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=391799 Rare genetic dystonia Category ORPHA:391799 UMLS:C5680022 E (Exact mapping: the two concepts are equivalent) 2q37.1 JBTS22 retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta ClinVar:PDE6D Ensembl:ENSG00000156973 Genatlas:PDE6D HGNC:8788 IUPHAR:1315 OMIM:602676 Reactome:O43924 SwissProt:O43924 PDE6D phosphodiesterase 6D 3q13.33 9630046K23Rik KDELC family like 1 KDELCL1 MDS010 MDSRP MGC32995 Rumi hCLP46 ClinVar:POGLUT1 Ensembl:ENSG00000163389 Genatlas:POGLUT1 HGNC:22954 OMIM:615618 Reactome:Q8NBL1 SwissProt:Q8NBL1 POGLUT1 protein O-glucosyltransferase 1 11q23.2 PLZF promyelocytic leukaemia zinc finger ClinVar:ZBTB16 Ensembl:ENSG00000109906 Genatlas:ZBTB16 HGNC:12930 OMIM:176797 Reactome:Q05516 SwissProt:Q05516 ZBTB16 zinc finger and BTB domain containing 16 11q13.4 NUMA ClinVar:NUMA1 Ensembl:ENSG00000137497 Genatlas:NUMA1 HGNC:8059 OMIM:164009 Reactome:Q14980 SwissProt:Q14980 NUMA1 nuclear mitotic apparatus protein 1 Atriodigital dysplasia type 1 HOS Heart-hand syndrome type 1 A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C535326 MedDRA:10050469 OMIM:142900 UMLS:C0265264 Autosomal dominant Neonatal Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Hungary AND has_birth_prevalence_average_value : 0.95 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=392 Holt-Oram syndrome ORPHA:392 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535326 E (Exact mapping: the two concepts are equivalent) MedDRA:10050469 E (Exact mapping: the two concepts are equivalent) OMIM:142900 E (Exact mapping: the two concepts are equivalent) UMLS:C0265264 E (Exact mapping: the two concepts are equivalent) 8p12 FLJ23263 ClinVar:TTI2 Ensembl:ENSG00000129696 Genatlas:TTI2 HGNC:26262 OMIM:614426 SwissProt:Q6NXR4 TTI2 TELO2 interacting protein 2 3q29 ACK ACK1 activated Cdc42-associated kinase 1 p21cdc42Hs ClinVar:TNK2 Ensembl:ENSG00000061938 Genatlas:TNK2 HGNC:19297 IUPHAR:2246 OMIM:606994 Reactome:Q07912 SwissProt:Q07912 TNK2 tyrosine kinase non receptor 2 Xq23 T-plastin ClinVar:PLS3 Ensembl:ENSG00000102024 Genatlas:PLS3 HGNC:9091 OMIM:300131 SwissProt:P13797 PLS3 plastin 3 10q26.11 SLC56A4 ClinVar:SFXN4 Ensembl:ENSG00000183605 Genatlas:SFXN4 HGNC:16088 OMIM:615564 SwissProt:Q6P4A7 SFXN4 sideroflexin 4 11q13.1 DKFZP564J0863 ClinVar:ATL3 Ensembl:ENSG00000184743 Genatlas:ATL3 HGNC:24526 OMIM:609369 SwissProt:Q6DD88 ATL3 atlastin GTPase 3 16p11.2 FLJ13063 ClinVar:ARMC5 Ensembl:ENSG00000140691 Genatlas:ARMC5 HGNC:25781 OMIM:615549 Reactome:Q96C12 SwissProt:Q96C12 ARMC5 armadillo repeat containing 5 46,XX testicular DSD 46,XX testicular disorder of sex development De la Chapelle syndrome XX, male syndrome A rare difference of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency. Orphanet ICD-10:Q99.1 ICD-11:LD2A.Y MeSH:D058531 MedDRA:10087158 OMIM:278850 OMIM:300833 OMIM:400045 UMLS:C2936419 Autosomal dominant Adolescent Antenatal Neonatal Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=393 46,XX testicular difference of sex development ORPHA:393 ICD-10:Q99.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058531 E (Exact mapping: the two concepts are equivalent) MedDRA:10087158 E (Exact mapping: the two concepts are equivalent) OMIM:278850 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300833 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:400045 E (Exact mapping: the two concepts are equivalent) UMLS:C2936419 E (Exact mapping: the two concepts are equivalent) CBS-deficient HCU Classical homocystinuria Cystathionine beta-synthase deficiency Cystathionine beta-synthase-deficient homocystinuria Homocystinuria due to CBS deficiency A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS). Orphanet ICD-10:E72.1 ICD-11:5C50.B MedDRA:10071093 OMIM:236200 UMLS:C0751202 Autosomal recessive Adolescent Adult Childhood Australia AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 0.77 AND has_birth_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 15.6 AND has_birth_prevalence_range : 1-5 / 10 000 Qatar AND has_birth_prevalence_average_value : 55.5 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=394 Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10071093 E (Exact mapping: the two concepts are equivalent) OMIM:236200 E (Exact mapping: the two concepts are equivalent) UMLS:C0751202 E (Exact mapping: the two concepts are equivalent) 2q11.2 MGC12290 MGC13378 ClinVar:LIPT1 Ensembl:ENSG00000144182 Genatlas:LIPT1 HGNC:29569 OMIM:610284 Reactome:Q9Y234 SwissProt:Q9Y234 LIPT1 lipoyltransferase 1 8q13.1 CRF CRH1 corticoliberin corticotropin-releasing factor ClinVar:CRH Ensembl:ENSG00000147571 Genatlas:CRH HGNC:2355 OMIM:122560 Reactome:P06850 SwissProt:P06850 CRH corticotropin releasing hormone Glutaric aciduria type 2, severe neonatal type MAD deficiency, severe neonatal type MADD, severe neonatal type ICD-10:E71.3 ICD-11:5C52.01 OMIM:231680 OMIM:255100 UMLS:C5680029 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Clinical subtype ORPHA:394529 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:231680 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:255100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680029 E (Exact mapping: the two concepts are equivalent) Glutaric aciduria type 2, mild type MAD deficiency, mild type MADD, mild type ICD-10:E71.3 ICD-11:5C52.01 OMIM:231680 OMIM:255100 UMLS:C5680028 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=394532 Multiple acyl-CoA dehydrogenase deficiency, mild type Clinical subtype ORPHA:394532 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:231680 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:255100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680028 E (Exact mapping: the two concepts are equivalent) 12q24.12 IDDM20 LNK lymphocyte adaptor protein ClinVar:SH2B3 Ensembl:ENSG00000111252 Genatlas:SH2B3 HGNC:29605 OMIM:605093 Reactome:Q9UQQ2 SwissProt:Q9UQQ2 SH2B3 SH2B adaptor protein 3 7q21.3 ClinVar:ASNS Ensembl:ENSG00000070669 Genatlas:ASNS HGNC:753 OMIM:108370 Reactome:P08243 SwissProt:P08243 ASNS asparagine synthetase (glutamine-hydrolyzing) 8q21.11 ClinVar:TRPA1 Ensembl:ENSG00000104321 Genatlas:TRPA1 HGNC:497 IUPHAR:485 OMIM:604775 Reactome:O75762 SwissProt:O75762 TRPA1 transient receptor potential cation channel subfamily A member 1 4q23 MGC27034 TRM10 ClinVar:TRMT10A Ensembl:ENSG00000145331 Genatlas:TRMT10A HGNC:28403 OMIM:616013 Reactome:Q8TBZ6 SwissProt:Q8TBZ6 TRMT10A tRNA methyltransferase 10A 21q22.11 INPP5G PARK20 inositol polyphosphate-5-phosphatase G phosphoinositide 5-phosphatase synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1 ClinVar:SYNJ1 Ensembl:ENSG00000159082 Genatlas:SYNJ1 HGNC:11503 IUPHAR:1461 OMIM:604297 Reactome:O43426 SwissProt:O43426 SYNJ1 synaptojanin 1 Xq22.3 FXY2 MRX101 RNF60 TRIM1 ClinVar:MID2 Ensembl:ENSG00000080561 Genatlas:MID2 HGNC:7096 OMIM:300204 SwissProt:Q9UJV3 MID2 midline 2 2p24.3 NAG ClinVar:NBAS Ensembl:ENSG00000151779 Genatlas:NBAS HGNC:15625 OMIM:608025 Reactome:A2RRP1 SwissProt:A2RRP1 NBAS NBAS subunit of NRZ tethering complex 10q25.1-q25.2 gamma-adducin ClinVar:ADD3 Ensembl:ENSG00000148700 Genatlas:ADD3 HGNC:245 OMIM:601568 Reactome:Q9UEY8 SwissProt:Q9UEY8 ADD3 adducin 3 6p21.31 Cbp6 M19 MGC14833 bA6B20.2 cytochrome B protein synthesis 6 homolog (S. cerevisiae) ClinVar:C6orf125 Ensembl:ENSG00000137288 Genatlas:C6orf125 HGNC:21237 OMIM:614461 Reactome:Q9BRT2 SwissProt:Q9BRT2 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 MTHFR deficiency Methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. Orphanet ICD-10:E72.1 ICD-11:5C63.1 MeSH:C537357 MedDRA:10070309 OMIM:236250 UMLS:C1856061 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency ORPHA:395 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C63.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537357 E (Exact mapping: the two concepts are equivalent) MedDRA:10070309 E (Exact mapping: the two concepts are equivalent) OMIM:236250 E (Exact mapping: the two concepts are equivalent) UMLS:C1856061 E (Exact mapping: the two concepts are equivalent) 17q12 CAB2 MGC9753 PER1 PP1498 post-GPI attachment to proteins 3 ClinVar:PGAP3 Ensembl:ENSG00000161395 Genatlas:PGAP3 HGNC:23719 OMIM:611801 SwissProt:Q96FM1 PGAP3 post-GPI attachment to proteins phospholipase 3 10p13 ClinVar:ITGA8 Ensembl:ENSG00000077943 Genatlas:ITGA8 HGNC:6144 IUPHAR:2447 OMIM:604063 Reactome:P53708 SwissProt:P53708 ITGA8 integrin subunit alpha 8 11q22.1 YAP-1 YAP65 ClinVar:YAP1 Ensembl:ENSG00000137693 Genatlas:YAP1 HGNC:16262 OMIM:606608 Reactome:P46937 SwissProt:P46937 YAP1 Yes1 associated transcriptional regulator 16p13.3 CHIP HSPABP2 NY-CO-7 SDCCAG7 UBOX1 ClinVar:STUB1 Ensembl:ENSG00000103266 Genatlas:STUB1 HGNC:11427 IUPHAR:3202 OMIM:607207 Reactome:Q9UNE7 SwissProt:Q9UNE7 STUB1 STIP1 homology and U-box containing protein 1 2q11.2 ADRARL1 ClinVar:ADRA2B Ensembl:ENSG00000274286 Genatlas:ADRA2B HGNC:282 IUPHAR:26 OMIM:104260 Reactome:P18089 SwissProt:P18089 ADRA2B adrenoceptor alpha 2B 7p14.1 ClinVar:INHBA Ensembl:ENSG00000122641 Genatlas:INHBA HGNC:6066 OMIM:147290 Reactome:P08476 SwissProt:P08476 INHBA inhibin subunit beta A 11q13.1 p65 ClinVar:RELA Ensembl:ENSG00000173039 Genatlas:RELA HGNC:9955 IUPHAR:3280 OMIM:164014 Reactome:Q04206 SwissProt:Q04206 RELA RELA proto-oncogene, NF-kB subunit 11q13.1 MGC3032 ClinVar:C11orf95 Ensembl:ENSG00000188070 Genatlas:C11orf95 HGNC:28449 OMIM:615699 SwissProt:C9JLR9 ZFTA zinc finger translocation associated Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. Orphanet ICD-10:G25.8 ICD-11:8A06.21 UMLS:C0744898 Not applicable All ages Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=396 Chronic hiccup ORPHA:396 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A06.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0744898 E (Exact mapping: the two concepts are equivalent) 22q11.1 ADGF ClinVar:CECR1 Ensembl:ENSG00000093072 Genatlas:CECR1 HGNC:1839 OMIM:607575 Reactome:Q9NZK5 SwissProt:Q9NZK5 ADA2 adenosine deaminase 2 Horton disease Temporal arteritis A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common. Orphanet ICD-10:M31.6 ICD-11:4A44.2 MeSH:D013700 MedDRA:10018250 OMIM:187360 UMLS:C0039483 Multigenic/multifactorial Adult Europe AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 8.9 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 30.4 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_annual_incidence_average_value : 16.8 AND has_annual_incidence_range : 1-5 / 10 000 Sweden AND has_annual_incidence_average_value : 7.7 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 11.2 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397 Giant cell arteritis ORPHA:397 ICD-10:M31.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013700 E (Exact mapping: the two concepts are equivalent) MedDRA:10018250 E (Exact mapping: the two concepts are equivalent) OMIM:187360 E (Exact mapping: the two concepts are equivalent) UMLS:C0039483 E (Exact mapping: the two concepts are equivalent) Disseminated granulomatous dermatophytosis A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients. Orphanet ICD-10:B35.8 ICD-11:1F28.Y UMLS:C1395264 Not applicable Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397587 Deep dermatophytosis ORPHA:397587 ICD-10:B35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1F28.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1395264 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD2F.1Y OMIM:616489 OMIM:618907 OMIM:618908 UMLS:C5681157 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397590 Silver-Russell syndrome due to a point mutation Etiological subtype ORPHA:397590 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616489 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618907 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618908 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681157 E (Exact mapping: the two concepts are equivalent) Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. Orphanet ICD-10:E88.8 OMIM:615595 UMLS:C4750855 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ORPHA:397593 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615595 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4750855 E (Exact mapping: the two concepts are equivalent) APDS Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed. Orphanet ICD-10:D81.8 MeSH:C585640 OMIM:615513 OMIM:616005 UMLS:C3714976 Autosomal dominant Adult Childhood Infancy Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397596 Activated PI3K-delta syndrome ORPHA:397596 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C585640 E (Exact mapping: the two concepts are equivalent) OMIM:615513 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616005 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3714976 E (Exact mapping: the two concepts are equivalent) Chronic diarrhea with HSAN Chronic diarrhea with hereditary sensory and autonomic neuropathy Prion protein systemic amyloidosis A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene <i>PRNP</i> (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. Orphanet ICD-10:G60.8 UMLS:C4518776 Autosomal dominant Adult Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397606 PrP systemic amyloidosis ORPHA:397606 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518776 E (Exact mapping: the two concepts are equivalent) Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. Orphanet ICD-10:Q75.3 OMIM:615637 UMLS:C4706573 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397612 Macrocephaly-developmental delay syndrome ORPHA:397612 ICD-10:Q75.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615637 E (Exact mapping: the two concepts are equivalent) UMLS:C4706573 E (Exact mapping: the two concepts are equivalent) A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported. Orphanet ICD-10:E66.8 ICD-11:5B81.Y OMIM:615703 UMLS:C5190985 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397615 Obesity due to CEP19 deficiency Etiological subtype ORPHA:397615 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615703 E (Exact mapping: the two concepts are equivalent) UMLS:C5190985 E (Exact mapping: the two concepts are equivalent) FHONDA syndrome A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. Orphanet ICD-10:Q15.8 OMIM:609218 UMLS:C5190596 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome ORPHA:397618 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609218 E (Exact mapping: the two concepts are equivalent) UMLS:C5190596 E (Exact mapping: the two concepts are equivalent) SAMS syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags. Orphanet ICD-10:Q87.1 OMIM:602471 UMLS:C4751574 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602471 E (Exact mapping: the two concepts are equivalent) UMLS:C4751574 E (Exact mapping: the two concepts are equivalent) Familial isolated prolactin receptor deficiency Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. Orphanet ICD-10:E22.1 OMIM:615555 UMLS:C4706551 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397685 Familial hyperprolactinemia ORPHA:397685 ICD-10:E22.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615555 E (Exact mapping: the two concepts are equivalent) UMLS:C4706551 E (Exact mapping: the two concepts are equivalent) Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. Orphanet ICD-10:D61.0 ICD-11:3A70.0 OMIM:616553 UMLS:C5190891 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397692 Hereditary isolated aplastic anemia ORPHA:397692 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616553 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190891 E (Exact mapping: the two concepts are equivalent) Del(3)(q27.3) 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Orphanet ICD-10:Q93.5 UMLS:C4749427 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397695 3q27.3 microdeletion syndrome ORPHA:397695 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749427 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 20 Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome SCAR20 A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. Orphanet ICD-10:Q87.8 OMIM:616354 UMLS:C5190595 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616354 E (Exact mapping: the two concepts are equivalent) UMLS:C5190595 E (Exact mapping: the two concepts are equivalent) JBTS with JATD Joubert syndrome with JATD A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. Orphanet ICD-10:Q04.3 OMIM:615636 OMIM:616546 UMLS:C4518774 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615636 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616546 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4518774 E (Exact mapping: the two concepts are equivalent) CoPAN NBIA6 Neurodegeneration with brain iron accumulation due to COASY mutation COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. Orphanet ICD-10:G23.0 OMIM:615643 UMLS:C4517377 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397725 COASY protein-associated neurodegeneration ORPHA:397725 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615643 E (Exact mapping: the two concepts are equivalent) UMLS:C4517377 E (Exact mapping: the two concepts are equivalent) Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation CMT2U A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. Orphanet ICD-10:G60.0 OMIM:616280 UMLS:C4084821 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U ORPHA:397735 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616280 E (Exact mapping: the two concepts are equivalent) UMLS:C4084821 E (Exact mapping: the two concepts are equivalent) Peripheral neuropathy-myopathy-hoarseness-deafness syndrome Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. Orphanet ICD-10:G60.0 OMIM:614369 UMLS:C5190594 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614369 E (Exact mapping: the two concepts are equivalent) UMLS:C5190594 E (Exact mapping: the two concepts are equivalent) Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy. Orphanet ICD-10:G72.3 UMLS:C4751573 Mitochondrial inheritance Adolescent Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397750 Periodic paralysis with later-onset distal motor neuropathy ORPHA:397750 ICD-10:G72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751573 E (Exact mapping: the two concepts are equivalent) A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group. Orphanet ICD-10:G72.3 UMLS:C4751572 All ages Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397755 Periodic paralysis with transient compartment-like syndrome ORPHA:397755 ICD-10:G72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751572 E (Exact mapping: the two concepts are equivalent) Retinal dystrophy with inner nuclear layer and ganglion cell anomalies Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. Orphanet ICD-10:H35.5 OMIM:616079 UMLS:C4751571 Autosomal dominant Adult Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies ORPHA:397758 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616079 E (Exact mapping: the two concepts are equivalent) UMLS:C4751571 E (Exact mapping: the two concepts are equivalent) CID due to IKK2 deficiency Combined immunodeficiency due to I-kappa-B kinase 2 deficiency A rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. Orphanet ICD-10:D81.2 OMIM:615592 UMLS:C5190593 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397787 Combined immunodeficiency due to IKK2 deficiency ORPHA:397787 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615592 E (Exact mapping: the two concepts are equivalent) UMLS:C5190593 E (Exact mapping: the two concepts are equivalent) UMLS:C5681156 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397802 T+ B+ severe combined immunodeficiency Clinical group ORPHA:397802 UMLS:C5681156 E (Exact mapping: the two concepts are equivalent) Cerebro-cutaneous syndrome with iron overload Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. Orphanet ICD-10:G23.0 OMIM:301072 UMLS:C4751570 X-linked recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397922 Ferro-cerebro-cutaneous syndrome ORPHA:397922 ICD-10:G23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:301072 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751570 E (Exact mapping: the two concepts are equivalent) Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. Orphanet ICD-10:Q87.5 OMIM:615709 UMLS:C4751569 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome ORPHA:397927 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615709 E (Exact mapping: the two concepts are equivalent) UMLS:C4751569 E (Exact mapping: the two concepts are equivalent) IQSEC2-related syndromic intellectual disability A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes. Orphanet ICD-10:Q87.8 OMIM:309530 UMLS:C4751568 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome ORPHA:397933 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:309530 E (Exact mapping: the two concepts are equivalent) UMLS:C4751568 E (Exact mapping: the two concepts are equivalent) PGBM1 Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. Orphanet ICD-10:E74.0 OMIM:615895 UMLS:C4014605 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397937 Polyglucosan body myopathy type 1 ORPHA:397937 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615895 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4014605 E (Exact mapping: the two concepts are equivalent) Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency Congenital disorder of glycosylation type II due to MAN1B1 deficiency Intellectual disability-truncal obesity syndrome MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene <i>MAN1B1</i> (9q34.3). Orphanet ICD-10:E77.8 UMLS:C4518783 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397941 MAN1B1-CDG ORPHA:397941 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518783 E (Exact mapping: the two concepts are equivalent) Autosomal spastic ataxia type 2 SPAX2 SPG58 A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. Orphanet ICD-10:G11.4 OMIM:611302 UMLS:C1969796 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Elderly Infancy Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397946 Autosomal spastic paraplegia type 58 ORPHA:397946 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:611302 E (Exact mapping: the two concepts are equivalent) UMLS:C1969796 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Orphanet ICD-10:Q87.8 OMIM:615599 UMLS:C4749429 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397951 Microcephaly-thin corpus callosum-intellectual disability syndrome ORPHA:397951 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615599 E (Exact mapping: the two concepts are equivalent) UMLS:C4749429 E (Exact mapping: the two concepts are equivalent) TCR-alpha-beta+ T-cell deficiency A rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. Orphanet ICD-10:D81.8 OMIM:615387 UMLS:C5680027 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397959 TCR-alpha-beta-positive T-cell deficiency ORPHA:397959 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615387 E (Exact mapping: the two concepts are equivalent) UMLS:C5680027 E (Exact mapping: the two concepts are equivalent) Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Orphanet ICD-10:D81.8 OMIM:615468 UMLS:C4750906 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397964 Combined immunodeficiency due to MALT1 deficiency ORPHA:397964 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615468 E (Exact mapping: the two concepts are equivalent) UMLS:C4750906 E (Exact mapping: the two concepts are equivalent) CMT2R A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. Orphanet ICD-10:G60.0 OMIM:615490 UMLS:C3809655 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397968 Charcot-Marie-Tooth disease type 2R ORPHA:397968 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615490 E (Exact mapping: the two concepts are equivalent) UMLS:C3809655 E (Exact mapping: the two concepts are equivalent) MOMES syndrome Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Orphanet ICD-10:Q87.8 MeSH:C564660 OMIM:606772 UMLS:C1847522 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564660 E (Exact mapping: the two concepts are equivalent) OMIM:606772 E (Exact mapping: the two concepts are equivalent) UMLS:C1847522 E (Exact mapping: the two concepts are equivalent) Cancer of penis Malignant penile tumor Penile cancer ICD-10:C60 MeSH:D010412 MedDRA:10034299 UMLS:C0153601 Elderly Brazil AND has_annual_incidence_average_value : 4.85 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 1.075 AND has_annual_incidence_range : 1-9 / 100 000 Uganda AND has_annual_incidence_average_value : 3.5 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 1.21 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398043 Malignant tumor of penis Category ORPHA:398043 ICD-10:C60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010412 E (Exact mapping: the two concepts are equivalent) MedDRA:10034299 E (Exact mapping: the two concepts are equivalent) UMLS:C0153601 E (Exact mapping: the two concepts are equivalent) Penile adenocarcinoma An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor. Orphanet ICD-10:C60.0 ICD-10:C60.1 ICD-10:C60.2 ICD-10:C60.8 ICD-10:C60.9 UMLS:C2212153 Elderly Austria AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398053 Adenocarcinoma of the penis ORPHA:398053 ICD-10:C60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2212153 E (Exact mapping: the two concepts are equivalent) Penile squamous cell carcinoma A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective. Orphanet ICD-10:C60.0 ICD-10:C60.1 ICD-10:C60.2 ICD-10:C60.8 ICD-10:C60.9 ICD-11:2C81.0 MedDRA:10059631 UMLS:C0238348 Elderly Austria AND has_annual_incidence_average_value : 0.491 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.605 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.516 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.423 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.684 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.57 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.426 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.638 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.682 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.475 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.606 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.552 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.628 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.612 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.744 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.396 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.745 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.499 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.45 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.791 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.597 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.691 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398058 Squamous cell carcinoma of the penis ORPHA:398058 ICD-10:C60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C60.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10059631 E (Exact mapping: the two concepts are equivalent) UMLS:C0238348 E (Exact mapping: the two concepts are equivalent) Refractory CD Refractory sprue Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes. Orphanet ICD-10:K90.0 UMLS:C4749333 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398063 Refractory celiac disease ORPHA:398063 ICD-10:K90.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749333 E (Exact mapping: the two concepts are equivalent) SYS A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weight gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome. Orphanet ICD-10:Q87.1 MeSH:C000726748 OMIM:615547 UMLS:C5575066 Not applicable Neonatal Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398069 Schaaf-Yang syndrome ORPHA:398069 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000726748 E (Exact mapping: the two concepts are equivalent) OMIM:615547 E (Exact mapping: the two concepts are equivalent) UMLS:C5575066 E (Exact mapping: the two concepts are equivalent) PWS-like A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. Orphanet UMLS:C3809877 Neonatal Worldwide AND has_cases/families_value : 117.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398073 Prader-Willi-like syndrome Clinical group ORPHA:398073 UMLS:C3809877 E (Exact mapping: the two concepts are equivalent) SIM1-related PWLS A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed. Orphanet ICD-10:Q87.1 UMLS:C5680040 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398079 SIM1-related Prader-Willi-like syndrome ORPHA:398079 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680040 E (Exact mapping: the two concepts are equivalent) Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. Orphanet ICD-10:D58.8 OMIM:185020 UMLS:C4750907 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398088 Hereditary cryohydrocytosis with normal stomatin ORPHA:398088 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:185020 E (Exact mapping: the two concepts are equivalent) UMLS:C4750907 E (Exact mapping: the two concepts are equivalent) Transplacentally acquired neonatal autoimmune disease UMLS:C5680041 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398091 Secondary neonatal autoimmune disease Category ORPHA:398091 UMLS:C5680041 E (Exact mapping: the two concepts are equivalent) Neonatal Hughes syndrome Neonatal antiphospholipid antibody syndrome Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations). Orphanet ICD-10:D68.6 UMLS:C4751518 Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398097 Neonatal antiphospholipid syndrome ORPHA:398097 ICD-10:D68.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751518 E (Exact mapping: the two concepts are equivalent) Neonatal AHA Neonatal AIHA A rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. Orphanet ICD-10:D59.1 UMLS:C4751517 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398109 Neonatal autoimmune hemolytic anemia ORPHA:398109 ICD-10:D59.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751517 E (Exact mapping: the two concepts are equivalent) Neonatal DM A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy. Orphanet ICD-10:M33.1 UMLS:C4751516 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398117 Neonatal dermatomyositis ORPHA:398117 ICD-10:M33.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751516 E (Exact mapping: the two concepts are equivalent) GvHD A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. Orphanet ICD-10:T86.0 ICD-11:4B24 MeSH:D006086 MedDRA:10018651 OMIM:614395 UMLS:C0018133 Not applicable All ages Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=39812 Graft versus host disease ORPHA:39812 ICD-10:T86.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4B24 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006086 E (Exact mapping: the two concepts are equivalent) MedDRA:10018651 E (Exact mapping: the two concepts are equivalent) OMIM:614395 E (Exact mapping: the two concepts are equivalent) UMLS:C0018133 E (Exact mapping: the two concepts are equivalent) A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block. Orphanet ICD-10:M32.8 ICD-11:KA07.0 MeSH:C536397 MedDRA:10057887 UMLS:C0409979 Not applicable Neonatal United States AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398124 Neonatal lupus erythematosus ORPHA:398124 ICD-10:M32.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KA07.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536397 E (Exact mapping: the two concepts are equivalent) MedDRA:10057887 E (Exact mapping: the two concepts are equivalent) UMLS:C0409979 E (Exact mapping: the two concepts are equivalent) A rare secondary neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated. Orphanet ICD-10:P83.8 UMLS:C4509425 Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398127 Neonatal scleroderma ORPHA:398127 ICD-10:P83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). UMLS:C4509425 E (Exact mapping: the two concepts are equivalent) AFP Atypical facial pain PIFP A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder. Orphanet ICD-10:G50.1 ICD-11:8A85 UMLS:C5191641 Adult Germany AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_lifetime_prevalence_average_value : 30.0 AND has_lifetime_prevalence_range : 1-5 / 10 000 Netherlands AND has_annual_incidence_average_value : 4.4 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398147 Persistent idiopathic facial pain ORPHA:398147 ICD-10:G50.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A85 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5191641 E (Exact mapping: the two concepts are equivalent) OAFNS A rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. Orphanet ICD-10:Q87.0 MeSH:C537865 OMIM:601452 UMLS:C1832352 Unknown Neonatal Worldwide AND has_cases/families_value : 41.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398156 Oculoauriculofrontonasal syndrome ORPHA:398156 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537865 E (Exact mapping: the two concepts are equivalent) OMIM:601452 E (Exact mapping: the two concepts are equivalent) UMLS:C1832352 E (Exact mapping: the two concepts are equivalent) FFDD Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:D000090303 OMIM:136500 OMIM:227260 OMIM:614973 OMIM:614974 UMLS:C2936827 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 147.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398166 Focal facial dermal dysplasia ORPHA:398166 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000090303 E (Exact mapping: the two concepts are equivalent) OMIM:136500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:227260 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614973 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614974 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2936827 E (Exact mapping: the two concepts are equivalent) FFDD type II FFDD2 Focal facial dermal dysplasia 2, Brauer-Setleis type Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y OMIM:614973 UMLS:C3554245 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398173 Focal facial dermal dysplasia type II Clinical subtype ORPHA:398173 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614973 E (Exact mapping: the two concepts are equivalent) UMLS:C3554245 E (Exact mapping: the two concepts are equivalent) FFDD type IV FFDD4 Focal facial dermal dysplasia 4 Focal facial preauricular dysplasia Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y OMIM:614974 UMLS:C3554246 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398189 Focal facial dermal dysplasia type IV Clinical subtype ORPHA:398189 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614974 E (Exact mapping: the two concepts are equivalent) UMLS:C3554246 E (Exact mapping: the two concepts are equivalent) 10q24.32-q24.33 GMP PNT5 SPG65 cN-II purine 5' nucleotidase ClinVar:NT5C2 Ensembl:ENSG00000076685 Genatlas:NT5C2 HGNC:8022 IUPHAR:1236 OMIM:600417 Reactome:P49902 SwissProt:P49902 NT5C2 5'-nucleotidase, cytosolic II 17p13.2 SPAX2 SPG58 ClinVar:KIF1C Ensembl:ENSG00000129250 Genatlas:KIF1C HGNC:6317 OMIM:603060 Reactome:O43896 SwissProt:O43896 KIF1C kinesin family member 1C 2q14.3 CD236 CD236R GPC GPD GYPD Ge Gerbich antigen glycophorin D sialoglycoprotein D ClinVar:GYPC Ensembl:ENSG00000136732 Genatlas:GYPC HGNC:4704 OMIM:110750 Reactome:P04921 SwissProt:P04921 GYPC glycophorin C (Gerbich blood group) 8p22 Ensembl:ENSG00000279903 HGNC:54925 SLC7A2-IT1 SLC7A2 intronic transcript 1 Epithelial cancer of ovary Ovarian epithelial cancer Ovarian malignant epithelial tumor MedDRA:10061328 UMLS:C0677886 Adult Europe AND has_annual_incidence_average_value : 9.39 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398934 Malignant epithelial tumor of ovary Category ORPHA:398934 MedDRA:10061328 E (Exact mapping: the two concepts are equivalent) UMLS:C0677886 E (Exact mapping: the two concepts are equivalent) Non-epithelial cancer of ovary Ovarian malignant non-epithelial tumor Ovarian non-epithelial cancer UMLS:C5680039 Adult Europe AND has_annual_incidence_average_value : 0.43 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398940 Malignant non-epithelial tumor of ovary Category ORPHA:398940 UMLS:C5680039 E (Exact mapping: the two concepts are equivalent) Ovarian mucinous adenocarcinoma Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating. Orphanet ICD-10:C56 ICD-11:2C73.04 UMLS:C4518746 Adult Austria AND has_annual_incidence_average_value : 0.497 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.883 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 1.154 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 0.815 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.995 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 1.108 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 1.062 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.666 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.469 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.706 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.666 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.503 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.567 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 1.162 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.717 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.665 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.49 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.945 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.601 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.695 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.563 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.815 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398961 Mucinous adenocarcinoma of ovary ORPHA:398961 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4518746 E (Exact mapping: the two concepts are equivalent) Ovarian clear cell adenocarcinoma A rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported. Orphanet ICD-10:C56 ICD-11:2C73.00 UMLS:C1518693 Adult Austria AND has_annual_incidence_average_value : 0.112 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.361 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.201 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.147 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.165 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.359 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.182 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.383 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.395 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.227 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.162 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.166 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.534 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.342 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.425 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.119 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.273 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.388 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.343 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.282 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.451 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398971 Clear cell adenocarcinoma of the ovary ORPHA:398971 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1518693 E (Exact mapping: the two concepts are equivalent) OBSOLETE: PPSPC This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary peritoneal carcinoma OBSOLETE: Primary peritoneal serous/papillary carcinoma ORPHA:398980 Immature teratoma of ovary Ovarian immature teratoma Ovarian malignant teratoma A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes. Orphanet ICD-10:C56 ICD-11:2C73.3 UMLS:C0346182 Unknown Adolescent Adult Childhood Infancy Austria AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.082 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.075 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=398987 Malignant teratoma of ovary ORPHA:398987 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C73.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0346182 E (Exact mapping: the two concepts are equivalent) Huntington chorea Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Orphanet ICD-10:G10 ICD-11:8A01.10 MeSH:D006816 MedDRA:10070668 OMIM:143100 UMLS:C0020179 Autosomal dominant Adolescent Adult Childhood Elderly Australia AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 6.3 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_annual_incidence_average_value : 0.69 AND has_annual_incidence_range : 1-9 / 1 000 000 China AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000 China AND has_point_prevalence_average_value : 0.37 AND has_point_prevalence_range : 1-9 / 1 000 000 Cyprus AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_point_prevalence_average_value : 4.64 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 5.8 AND has_point_prevalence_range : 1-9 / 100 000 Egypt AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 10.6 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 6.35 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 Slovenia AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 4.94 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 0.42 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.61 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399 Huntington disease ORPHA:399 ICD-10:G10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A01.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006816 E (Exact mapping: the two concepts are equivalent) MedDRA:10070668 E (Exact mapping: the two concepts are equivalent) OMIM:143100 E (Exact mapping: the two concepts are equivalent) UMLS:C0020179 E (Exact mapping: the two concepts are equivalent) Alpha-B crystallin-related late-onset distal myopathy Late-onset distal crystallinopathy A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Orphanet ICD-10:G71.0 OMIM:608810 UMLS:C5191079 Autosomal dominant Adult Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399058 Alpha-B crystallin-related late-onset myopathy ORPHA:399058 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608810 E (Exact mapping: the two concepts are equivalent) UMLS:C5191079 E (Exact mapping: the two concepts are equivalent) KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. Orphanet ICD-10:G71.0 UMLS:C4706574 Adolescent Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399081 KLHL9-related early-onset distal myopathy ORPHA:399081 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706574 E (Exact mapping: the two concepts are equivalent) Distal myopathy type 3 MPD3 Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. Orphanet ICD-10:G71.0 MeSH:C566445 OMIM:610099 UMLS:C1864706 Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399086 Finnish upper limb-onset distal myopathy ORPHA:399086 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566445 E (Exact mapping: the two concepts are equivalent) OMIM:610099 E (Exact mapping: the two concepts are equivalent) UMLS:C1864706 E (Exact mapping: the two concepts are equivalent) MMD3 Miyoshi muscular dystrophy type 3 Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Orphanet ICD-10:G71.0 MeSH:C567645 OMIM:613319 UMLS:C2750076 Adolescent Adult Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399096 Distal anoctaminopathy ORPHA:399096 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567645 E (Exact mapping: the two concepts are equivalent) OMIM:613319 E (Exact mapping: the two concepts are equivalent) UMLS:C2750076 E (Exact mapping: the two concepts are equivalent) Nebulin-related early-onset distal myopathy Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. Orphanet ICD-10:G71.0 UMLS:C5190827 Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399103 Distal nebulin myopathy ORPHA:399103 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190827 E (Exact mapping: the two concepts are equivalent) Bone necrosis ICD-10:M87 ICD-11:FB81 MeSH:D010020 MedDRA:10031264 UMLS:C0029445 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399158 Osteonecrosis Category ORPHA:399158 ICD-10:M87 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010020 E (Exact mapping: the two concepts are equivalent) MedDRA:10031264 E (Exact mapping: the two concepts are equivalent) UMLS:C0029445 E (Exact mapping: the two concepts are equivalent) AVN ICD-11:FB81 UMLS:C0027543 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399164 Avascular necrosis Category ORPHA:399164 ICD-11:FB81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0027543 E (Exact mapping: the two concepts are equivalent) Secondary AVN UMLS:C5680036 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399169 Secondary avascular necrosis Category ORPHA:399169 UMLS:C5680036 E (Exact mapping: the two concepts are equivalent) Traumatic AVN ICD-10:M87.2 ICD-11:FB81.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399175 Traumatic avascular necrosis ORPHA:399175 ICD-10:M87.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB81.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Secondary non-traumatic AVN Secondary non-traumatic osteonecrosis A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed. Orphanet ICD-10:M87.1 ICD-10:M87.3 UMLS:C5192430 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399180 Secondary non-traumatic avascular necrosis ORPHA:399180 ICD-10:M87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5192430 E (Exact mapping: the two concepts are equivalent) UMLS:C5681170 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399185 Rare hereditary disease with avascular necrosis Category ORPHA:399185 UMLS:C5681170 E (Exact mapping: the two concepts are equivalent) A rare osteonecrosis characterized by an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental interventions, or trauma and infections. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures, or fistulae. Orphanet ICD-10:K10.2 ICD-11:DA06.0 MedDRA:10064658 UMLS:C2711248 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399293 Osteonecrosis of the jaw ORPHA:399293 ICD-10:K10.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:DA06.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064658 E (Exact mapping: the two concepts are equivalent) UMLS:C2711248 E (Exact mapping: the two concepts are equivalent) Primary AVN UMLS:C5680038 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399302 Primary avascular necrosis Clinical group ORPHA:399302 UMLS:C5680038 E (Exact mapping: the two concepts are equivalent) Idiopathic AVN A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis. Orphanet ICD-10:M87.0 ICD-11:FB82.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399307 Idiopathic avascular necrosis ORPHA:399307 ICD-10:M87.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:FB82.1 MeSH:D055034 MedDRA:10031233 UMLS:C0029429 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399319 Osteochondrosis Category ORPHA:399319 ICD-11:FB82.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D055034 E (Exact mapping: the two concepts are equivalent) MedDRA:10031233 E (Exact mapping: the two concepts are equivalent) UMLS:C0029429 E (Exact mapping: the two concepts are equivalent) Epiphysiolysis of the upper femur Femoral head epiphysiolysis SCFE SUFE Slipped capital femoral epiphysis Slipped upper femoral epiphysis Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). Orphanet ICD-10:M93.9 ICD-11:FB82.2 MeSH:D060048 UMLS:C0158441 Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399329 Epiphysiolysis of the hip ORPHA:399329 ICD-10:M93.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D060048 E (Exact mapping: the two concepts are equivalent) UMLS:C0158441 E (Exact mapping: the two concepts are equivalent) Bone necrosis of genetic origin UMLS:C5680035 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399380 Osteonecrosis of genetic origin Category ORPHA:399380 UMLS:C5680035 E (Exact mapping: the two concepts are equivalent) UMLS:C5681169 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399388 Avascular necrosis of genetic origin Category ORPHA:399388 UMLS:C5681169 E (Exact mapping: the two concepts are equivalent) UMLS:C5681168 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399391 Osteochondrosis of genetic origin Category ORPHA:399391 UMLS:C5681168 E (Exact mapping: the two concepts are equivalent) Rare male infertility due to gonadotropic axis disorder Rare male infertility due to hypothalamic-pituitary-testicular axis disorder UMLS:C5680034 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder Category ORPHA:399572 UMLS:C5680034 E (Exact mapping: the two concepts are equivalent) UMLS:C5681164 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399584 Rare male infertility due to adrenal disorder Category ORPHA:399584 UMLS:C5681164 E (Exact mapping: the two concepts are equivalent) UMLS:C5681163 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399685 Rare male infertility due to testicular endocrine disorder Category ORPHA:399685 UMLS:C5681163 E (Exact mapping: the two concepts are equivalent) Male infertility due to testicular dysgenesis or sperm disorder UMLS:C5680033 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399764 Male infertility due to gonadal dysgenesis or sperm disorder Category ORPHA:399764 UMLS:C5680033 E (Exact mapping: the two concepts are equivalent) UMLS:C5681162 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399771 Male infertility due to sperm disorder Category ORPHA:399771 UMLS:C5681162 E (Exact mapping: the two concepts are equivalent) UMLS:C5681167 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399775 Male infertility with spermatogenesis disorder Category ORPHA:399775 UMLS:C5681167 E (Exact mapping: the two concepts are equivalent) UMLS:C5681166 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399786 Male infertility with spermatogenesis disorder due to single gene mutation Category ORPHA:399786 UMLS:C5681166 E (Exact mapping: the two concepts are equivalent) A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. Orphanet ICD-10:N46 OMIM:108420 OMIM:258150 OMIM:270960 OMIM:305700 OMIM:309120 OMIM:613957 OMIM:615081 OMIM:615413 OMIM:615841 OMIM:615842 OMIM:616950 OMIM:617706 OMIM:617707 OMIM:617960 OMIM:618086 OMIM:618110 OMIM:618115 OMIM:619108 OMIM:619202 OMIM:619379 OMIM:619380 OMIM:619515 OMIM:619528 OMIM:619585 OMIM:619645 OMIM:619646 OMIM:619672 OMIM:619673 OMIM:619689 OMIM:619696 OMIM:619712 OMIM:619799 OMIM:619803 OMIM:619805 OMIM:619826 OMIM:619828 OMIM:619867 OMIM:619878 OMIM:619937 OMIM:619949 OMIM:620084 OMIM:620103 OMIM:620170 OMIM:620196 OMIM:620222 UMLS:C5681165 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation ORPHA:399805 ICD-10:N46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:108420 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:258150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:270960 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:309120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613957 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615081 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615413 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615841 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615842 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616950 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617706 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617707 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617960 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618086 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618115 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619108 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619202 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619379 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619380 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619515 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619528 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619585 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619645 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619646 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619672 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619673 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619689 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619696 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619712 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619799 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619803 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619805 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619826 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619828 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619867 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619878 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619937 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619949 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620084 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620103 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620170 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620196 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620222 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681165 E (Exact mapping: the two concepts are equivalent) Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. Orphanet ICD-10:N46 OMIM:102530 OMIM:243060 OMIM:301059 OMIM:613958 OMIM:615413 OMIM:619044 OMIM:619094 OMIM:619095 OMIM:619102 OMIM:619144 OMIM:619145 OMIM:619177 OMIM:619258 UMLS:C4706677 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399808 Male infertility with teratozoospermia due to single gene mutation ORPHA:399808 ICD-10:N46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:102530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:243060 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301059 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613958 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615413 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619044 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619094 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619095 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619102 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619144 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619145 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619177 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619258 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4706677 E (Exact mapping: the two concepts are equivalent) Male infertility due to asthenozoospermia UMLS:C5680032 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399813 Male infertility due to sperm motility disorder Category ORPHA:399813 UMLS:C5680032 E (Exact mapping: the two concepts are equivalent) Rare disorder due to impaired sperm transport UMLS:C5680031 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399824 Rare disorder with obstructive azoospermia Category ORPHA:399824 UMLS:C5680031 E (Exact mapping: the two concepts are equivalent) Rare female infertility due to gonadotropic axis disorder Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder UMLS:C5680030 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder Category ORPHA:399831 UMLS:C5680030 E (Exact mapping: the two concepts are equivalent) UMLS:C5681158 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism Category ORPHA:399839 UMLS:C5681158 E (Exact mapping: the two concepts are equivalent) UMLS:C5681161 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Category ORPHA:399846 UMLS:C5681161 E (Exact mapping: the two concepts are equivalent) UMLS:C5681160 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399849 Rare female infertility due to an adrenal disorder Category ORPHA:399849 UMLS:C5681160 E (Exact mapping: the two concepts are equivalent) UMLS:C5681159 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399853 Rare female infertility due to an anomaly of ovarian function Category ORPHA:399853 UMLS:C5681159 E (Exact mapping: the two concepts are equivalent) Rare female infertility due to ovarian dysgenesis UMLS:C5680010 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399877 Rare female infertility due to gonadal dysgenesis Category ORPHA:399877 UMLS:C5680010 E (Exact mapping: the two concepts are equivalent) UMLS:C5681135 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399882 Rare female infertility due to an implantation defect Category ORPHA:399882 UMLS:C5681135 E (Exact mapping: the two concepts are equivalent) UMLS:C5681134 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399980 Rare genetic male infertility Category ORPHA:399980 UMLS:C5681134 E (Exact mapping: the two concepts are equivalent) Rare male infertility due to gonadotropic axis disorder of genetic origin Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin UMLS:C5680009 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Category ORPHA:399983 UMLS:C5680009 E (Exact mapping: the two concepts are equivalent) UMLS:C5681133 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399994 Rare male infertility due to adrenal disorder of genetic origin Category ORPHA:399994 UMLS:C5681133 E (Exact mapping: the two concepts are equivalent) Male infertility due to impaired sperm transport of genetic origin UMLS:C5680008 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=399998 Male infertility due to obstructive azoospermia of genetic origin Category ORPHA:399998 UMLS:C5680008 E (Exact mapping: the two concepts are equivalent) A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type . Orphanet ICD-10:Q77.8 ICD-11:LD24.9 MeSH:C535661 OMIM:602875 UMLS:C1864356 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=40 Acromesomelic dysplasia, Maroteaux type ORPHA:40 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535661 E (Exact mapping: the two concepts are equivalent) OMIM:602875 E (Exact mapping: the two concepts are equivalent) UMLS:C1864356 E (Exact mapping: the two concepts are equivalent) Hydatid cyst Hydatid disease Hydatidosis A rare parasitic disease characterized by slowly enlarging cysts of the liver, lungs and other organs which often go unnoticed for years. They are caused principally by the larval form (also called metacestode) of Echinococcus granulosus sensu lato tapeworm. The adult form of this tapeworm parasitizes the intestine of dogs. Cystic echinococcosis (formerly hydatidosis) generally affects large domestic herbivores and humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement. Orphanet ICD-10:B67.0 ICD-10:B67.1 ICD-10:B67.2 ICD-10:B67.3 ICD-10:B67.4 ICD-10:B67.5 ICD-10:B67.6 ICD-10:B67.7 ICD-10:B67.8 ICD-10:B67.9 ICD-11:1F73.Z MeSH:D004443 MedDRA:10014096 UMLS:C4553297 Not applicable Adult Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=400 Cystic echinococcosis ORPHA:400 ICD-10:B67.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B67.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F73.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004443 E (Exact mapping: the two concepts are equivalent) MedDRA:10014096 E (Exact mapping: the two concepts are equivalent) UMLS:C4553297 E (Exact mapping: the two concepts are equivalent) Rare genetic disorder due to impaired sperm transport UMLS:C5680007 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=400003 Rare genetic disorder with obstructive azoospermia Category ORPHA:400003 UMLS:C5680007 E (Exact mapping: the two concepts are equivalent) UMLS:C5681132 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=400008 Rare genetic female infertility Category ORPHA:400008 UMLS:C5681132 E (Exact mapping: the two concepts are equivalent) Rare female infertility due to gonadotropic axis disorder of genetic origin Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin UMLS:C5680011 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Category ORPHA:400011 UMLS:C5680011 E (Exact mapping: the two concepts are equivalent) UMLS:C5681138 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=400018 Rare female infertility due to adrenal disorder of genetic origin Category ORPHA:400018 UMLS:C5681138 E (Exact mapping: the two concepts are equivalent) UMLS:C5681137 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=400022 Rare female infertility due to an anomaly of ovarian function of genetic origin Category ORPHA:400022 UMLS:C5681137 E (Exact mapping: the two concepts are equivalent) UMLS:C5681136 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=400025 Female infertility due to an implantation defect of genetic origin Category ORPHA:400025 UMLS:C5681136 E (Exact mapping: the two concepts are equivalent) 17q12 FLJ37433 GPI-anchored wall protein transfer 1 homolog (S. cerevisiae) Gwt1 PIG-W ClinVar:PIGW Ensembl:ENSG00000277161 Genatlas:PIGW HGNC:23213 OMIM:610275 Reactome:Q7Z7B1 SwissProt:Q7Z7B1 PIGW phosphatidylinositol glycan anchor biosynthesis class W 3q22.1 KIAA0678 RME8 ClinVar:DNAJC13 Ensembl:ENSG00000138246 Genatlas:DNAJC13 HGNC:30343 OMIM:614334 Reactome:O75165 SwissProt:O75165 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 11p15.4 rd5 ClinVar:TUB Ensembl:ENSG00000166402 Genatlas:TUB HGNC:12406 OMIM:601197 SwissProt:P50607 TUB TUB bipartite transcription factor This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Psoriatic arthritis ORPHA:40050 6p25.1 CGI-203 ISD11 ClinVar:LYRM4 Ensembl:ENSG00000214113 Genatlas:LYRM4 HGNC:21365 OMIM:613311 Reactome:Q9HD34 SwissProt:Q9HD34 LYRM4 LYR motif containing 4 20q11.22 IscS NifS ClinVar:NFS1 Ensembl:ENSG00000244005 Genatlas:NFS1 HGNC:15910 OMIM:603485 Reactome:Q9Y697 SwissProt:Q9Y697 NFS1 NFS1 cysteine desulfurase 5q32 FLJ13962 Fbx38 MOKA SP329 ClinVar:FBXO38 Ensembl:ENSG00000145868 Genatlas:FBXO38 HGNC:28844 OMIM:608533 Reactome:Q6PIJ6 SwissProt:Q6PIJ6 FBXO38 F-box protein 38 1p36.22 p110D phosphatidylinositol 3-kinase, catalytic, delta polypeptide phosphoinositide-3-kinase C ClinVar:PIK3CD Ensembl:ENSG00000171608 Genatlas:PIK3CD HGNC:8977 IUPHAR:2155 OMIM:602839 Reactome:O00329 SwissProt:O00329 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 19q13.32 2E4 KICS4 ClinVar:KPTN Ensembl:ENSG00000118162 Genatlas:KPTN HGNC:6404 OMIM:615620 SwissProt:Q9Y664 KPTN kaptin, actin binding protein 3q29 MGC14126 ClinVar:CEP19 Ensembl:ENSG00000174007 Genatlas:CEP19 HGNC:28209 OMIM:615586 Reactome:Q96LK0 SwissProt:Q96LK0 CEP19 centrosomal protein 19 16q23.3 Putative sodium-coupled neutral amino acid transporter 8 SNAT8 ClinVar:SLC38A8 Ensembl:ENSG00000166558 Genatlas:SLC38A8 HGNC:32434 IUPHAR:1176 OMIM:615585 SwissProt:A6NNN8 SLC38A8 solute carrier family 38 member 8 14q32.13 GSC1 ClinVar:GSC Ensembl:ENSG00000133937 Genatlas:GSC HGNC:4612 OMIM:138890 SwissProt:P56915 GSC goosecoid homeobox 5p13.2 ClinVar:PRLR Ensembl:ENSG00000113494 Genatlas:PRLR HGNC:9446 IUPHAR:1721 OMIM:176761 Reactome:P16471 SwissProt:P16471 PRLR prolactin receptor 7q22.1 Cohesin subunit SA-3 SA3 stromalin 3 ClinVar:STAG3 Ensembl:ENSG00000066923 Genatlas:STAG3 HGNC:11356 OMIM:608489 Reactome:Q9UJ98 SwissProt:Q9UJ98 STAG3 STAG3 cohesin complex component 20p11.23 HT013 ClinVar:KIZ Ensembl:ENSG00000088970 Genatlas:KIZ HGNC:15865 OMIM:615757 Reactome:Q2M2Z5 SwissProt:Q2M2Z5 KIZ kizuna centrosomal protein 2q24.2 ClinVar:ITGB6 Ensembl:ENSG00000115221 Genatlas:ITGB6 HGNC:6161 IUPHAR:2460 OMIM:147558 Reactome:P18564 SwissProt:P18564 ITGB6 integrin subunit beta 6 12p13.31 DKFZP566B183 adaptin-ear-binding coat-associated protein 1 ClinVar:NECAP1 Ensembl:ENSG00000089818 Genatlas:NECAP1 HGNC:24539 OMIM:611623 Reactome:Q8NC96 SwissProt:Q8NC96 NECAP1 NECAP endocytosis associated 1 Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly <i>Hymenolepis nana</i>, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness. Orphanet ICD-10:B71.0 ICD-11:1F74 MeSH:D006925 MedDRA:10020546 UMLS:C0020413 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401 Hymenolepiasis ORPHA:401 ICD-10:B71.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F74 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006925 E (Exact mapping: the two concepts are equivalent) MedDRA:10020546 E (Exact mapping: the two concepts are equivalent) UMLS:C0020413 E (Exact mapping: the two concepts are equivalent) Xp22.11 FLJ30296 ClinVar:PTCHD1 Ensembl:ENSG00000165186 Genatlas:PTCHD1 HGNC:26392 OMIM:300828 SwissProt:Q96NR3 PTCHD1 patched domain containing 1 3q26.2 KIAA1613 PPP1R142 protein phosphatase 1, regulatory subunit 142 ClinVar:SLC7A14 Ensembl:ENSG00000013293 Genatlas:SLC7A14 HGNC:29326 IUPHAR:895 OMIM:615720 SwissProt:Q8TBB6 SLC7A14 solute carrier family 7 member 14 8p22 ClinVar:FGF20 Ensembl:ENSG00000078579 Genatlas:FGF20 HGNC:3677 OMIM:605558 Reactome:Q9NP95 SwissProt:Q9NP95 FGF20 fibroblast growth factor 20 Xp11.4 DFFRX FAF FAF-X MRX99 fat facets-like, X-linked ClinVar:USP9X Ensembl:ENSG00000124486 Genatlas:USP9X HGNC:12632 OMIM:300072 Reactome:Q93008 SwissProt:Q93008 USP9X ubiquitin specific peptidase 9 X-linked 12p13.32 G1/S-specific cyclin D2 ClinVar:CCND2 Ensembl:ENSG00000118971 Genatlas:CCND2 HGNC:1583 OMIM:123833 Reactome:P30279 SwissProt:P30279 CCND2 cyclin D2 17p13.3 FLJ10979 HCCS1 hepatocellular carcinoma suppressor 1 ClinVar:VPS53 Ensembl:ENSG00000141252 Genatlas:VPS53 HGNC:25608 OMIM:615850 Reactome:Q5VIR6 SwissProt:Q5VIR6 VPS53 VPS53 subunit of GARP complex 18q11.2 TAFII105 TATA box binding protein (TBP)-associated factor 4B ClinVar:TAF4B Ensembl:ENSG00000141384 Genatlas:TAF4B HGNC:11538 OMIM:601689 Reactome:Q92750 SwissProt:Q92750 TAF4B TATA-box binding protein associated factor 4b 17p13.2 DKFZp434N127 ClinVar:ZMYND15 Ensembl:ENSG00000141497 Genatlas:ZMYND15 HGNC:20997 OMIM:614312 SwissProt:Q9H091 ZMYND15 zinc finger MYND-type containing 15 17q21.2 CoASY DPCK NBP PPAT bifunctional Coenzyme A synthase ClinVar:COASY Ensembl:ENSG00000068120 Genatlas:COASY HGNC:29932 OMIM:609855 Reactome:Q13057 SwissProt:Q13057 COASY Coenzyme A synthase Trilineage bone marrow failure-developmental delay syndrome A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. Orphanet ICD-10:D61.0 OMIM:615715 UMLS:C4751507 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401764 Pancytopenia-developmental delay syndrome ORPHA:401764 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615715 E (Exact mapping: the two concepts are equivalent) UMLS:C4751507 E (Exact mapping: the two concepts are equivalent) Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. Orphanet ICD-10:G71.3 OMIM:615673 UMLS:C4749430 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401768 Proximal myopathy with extrapyramidal signs ORPHA:401768 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615673 E (Exact mapping: the two concepts are equivalent) UMLS:C4749430 E (Exact mapping: the two concepts are equivalent) 8p11.21 IKK-beta IKK2 IKKB NFKBIKB ClinVar:IKBKB Ensembl:ENSG00000104365 Genatlas:IKBKB HGNC:5960 IUPHAR:2039 OMIM:603258 Reactome:O14920 SwissProt:O14920 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta BBSOAS Bosch-Boonstra-Schaaf optic atrophy syndrome Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. Orphanet ICD-10:H47.2 MedDRA:10083269 OMIM:615722 UMLS:C3810363 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401777 Optic atrophy-intellectual disability syndrome ORPHA:401777 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10083269 E (Exact mapping: the two concepts are equivalent) OMIM:615722 E (Exact mapping: the two concepts are equivalent) UMLS:C3810363 E (Exact mapping: the two concepts are equivalent) SPG61 Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the <i>ARL6IP1</i> gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615685 UMLS:C3810294 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401780 Autosomal recessive spastic paraplegia type 61 ORPHA:401780 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615685 E (Exact mapping: the two concepts are equivalent) UMLS:C3810294 E (Exact mapping: the two concepts are equivalent) SPG62 A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615681 UMLS:C4284588 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401785 Autosomal recessive spastic paraplegia type 62 ORPHA:401785 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615681 E (Exact mapping: the two concepts are equivalent) UMLS:C4284588 E (Exact mapping: the two concepts are equivalent) SPG59 A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Orphanet ICD-10:G11.4 ICD-11:8B44.01 UMLS:C4750857 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401795 Autosomal recessive spastic paraplegia type 59 ORPHA:401795 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750857 E (Exact mapping: the two concepts are equivalent) SPG60 Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. Orphanet ICD-10:G11.4 ICD-11:8B44.01 UMLS:C5190589 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401800 Autosomal recessive spastic paraplegia type 60 ORPHA:401800 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190589 E (Exact mapping: the two concepts are equivalent) SPG63 Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the <i>AMPD2</i> gene (1p13.3) encoding AMP deaminase 2. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615686 UMLS:C3810295 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401805 Autosomal recessive spastic paraplegia type 63 ORPHA:401805 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615686 E (Exact mapping: the two concepts are equivalent) UMLS:C3810295 E (Exact mapping: the two concepts are equivalent) SPG64 Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the <i>ENTPD1</i> gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615683 UMLS:C3810289 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401810 Autosomal recessive spastic paraplegia type 64 ORPHA:401810 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615683 E (Exact mapping: the two concepts are equivalent) UMLS:C3810289 E (Exact mapping: the two concepts are equivalent) SPG66 A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. Orphanet ICD-10:G11.4 ICD-11:8B44.01 UMLS:C5190590 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401815 Autosomal recessive spastic paraplegia type 66 ORPHA:401815 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190590 E (Exact mapping: the two concepts are equivalent) SPG67 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615802 UMLS:C4707829 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401820 Autosomal recessive spastic paraplegia type 67 ORPHA:401820 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615802 E (Exact mapping: the two concepts are equivalent) UMLS:C4707829 E (Exact mapping: the two concepts are equivalent) SPG68 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spastic paraplegia-optic atrophy-neuropathy syndrome Autosomal recessive spastic paraplegia type 68 ORPHA:401825 SPG69 A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. Orphanet ICD-10:G11.4 ICD-11:8B44.01 UMLS:C5190577 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401830 Autosomal recessive spastic paraplegia type 69 ORPHA:401830 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190577 E (Exact mapping: the two concepts are equivalent) SPG70 Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:620323 UMLS:C4749431 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401835 Autosomal recessive spastic paraplegia type 70 ORPHA:401835 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620323 E (Exact mapping: the two concepts are equivalent) UMLS:C4749431 E (Exact mapping: the two concepts are equivalent) SPG71 A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. Orphanet ICD-10:G11.4 ICD-11:8B44.01 UMLS:C5190578 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401840 Autosomal recessive spastic paraplegia type 71 ORPHA:401840 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190578 E (Exact mapping: the two concepts are equivalent) SPG72 A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. Orphanet ICD-10:G11.4 ICD-11:8B44.00 ICD-11:8B44.01 OMIM:615625 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401849 Autosomal spastic paraplegia type 72 ORPHA:401849 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615625 E (Exact mapping: the two concepts are equivalent) Lipoate biosynthesis defect UMLS:C5680006 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401854 Lipoic acid biosynthesis defect Category ORPHA:401854 UMLS:C5680006 E (Exact mapping: the two concepts are equivalent) A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated. Orphanet ICD-10:E88.8 OMIM:614462 UMLS:C5190587 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401859 Lipoic acid synthetase deficiency ORPHA:401859 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614462 E (Exact mapping: the two concepts are equivalent) UMLS:C5190587 E (Exact mapping: the two concepts are equivalent) A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension. Orphanet ICD-10:E88.8 OMIM:616299 UMLS:C5190588 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401862 Lipoyl transferase 1 deficiency ORPHA:401862 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616299 E (Exact mapping: the two concepts are equivalent) UMLS:C5190588 E (Exact mapping: the two concepts are equivalent) Childhood-onset spasticity with variant non-ketotic hyperglycinemia Spasticity-ataxia-gait anomalies syndrome Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. Orphanet ICD-10:E88.8 OMIM:616859 UMLS:C4225178 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401866 Childhood-onset spasticity with hyperglycinemia ORPHA:401866 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616859 E (Exact mapping: the two concepts are equivalent) UMLS:C4225178 E (Exact mapping: the two concepts are equivalent) MMDS1 NFU1 deficiency A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy. Orphanet ICD-10:E88.8 ICD-11:5C53.21 OMIM:605711 UMLS:C3276432 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401869 Multiple mitochondrial dysfunctions syndrome type 1 ORPHA:401869 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605711 E (Exact mapping: the two concepts are equivalent) UMLS:C3276432 E (Exact mapping: the two concepts are equivalent) BOLA3 deficiency MMDS2 A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. Orphanet ICD-10:E88.8 ICD-11:5C53.21 OMIM:614299 UMLS:C3280378 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401874 Multiple mitochondrial dysfunctions syndrome type 2 ORPHA:401874 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614299 E (Exact mapping: the two concepts are equivalent) UMLS:C3280378 E (Exact mapping: the two concepts are equivalent) 8q24.12 CIF150 TAFII150 ClinVar:TAF2 Ensembl:ENSG00000064313 Genatlas:TAF2 HGNC:11536 OMIM:604912 Reactome:Q6P1X5 SwissProt:Q6P1X5 TAF2 TATA-box binding protein associated factor 2 C9ORF72-related Huntington disease phenocopy C9ORF72-related Huntington disease-like syndrome Huntington disease phenocopy due to C9ORF72 expansions A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems. Orphanet ICD-10:G10 UMLS:C5190586 Autosomal dominant Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401901 Huntington disease-like syndrome due to C9ORF72 expansions ORPHA:401901 ICD-10:G10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190586 E (Exact mapping: the two concepts are equivalent) 14q11.2 ClinVar:TRAC Ensembl:ENSG00000277734 Genatlas:TRAC HGNC:12029 OMIM:186880 Reactome:P01848 SwissProt:P01848 TRAC T-cell receptor alpha constant AXIN2-related AFAP AXIN2-related attenuated FAP AXIN2-related attenuated familial polyposis coli ICD-10:D12.6 ICD-11:2B90.Y UMLS:C5680012 Adult Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401911 AXIN2-related attenuated familial adenomatous polyposis Clinical subtype ORPHA:401911 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680012 E (Exact mapping: the two concepts are equivalent) FHCC Fibrolamellar hepatocarcinoma A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands. Orphanet ICD-10:C22.0 ICD-11:2C12.02 ICD-11:XH9Q35 MeSH:C537258 UMLS:C0334287 Not applicable Adolescent Adult Austria AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401920 Fibrolamellar hepatocellular carcinoma ORPHA:401920 ICD-10:C22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C12.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH9Q35 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537258 E (Exact mapping: the two concepts are equivalent) UMLS:C0334287 E (Exact mapping: the two concepts are equivalent) Del(9)(q31.1q31.3) Monosomy 9q31.1q31.3 9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. Orphanet ICD-10:Q93.5 UMLS:C4750910 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401923 9q31.1q31.3 microdeletion syndrome ORPHA:401923 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750910 E (Exact mapping: the two concepts are equivalent) 4q31.3 CMT2R Charcot-Marie-Tooth disease, type 2R KIAA0517 RING finger protein 86 RNF86 ClinVar:TRIM2 Ensembl:ENSG00000109654 Genatlas:TRIM2 HGNC:15974 OMIM:614141 Reactome:Q9C040 SwissProt:Q9C040 TRIM2 tripartite motif containing 2 Del(14)(q24.1q24.3) Monosomy 14q24.1q24.3 14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Orphanet ICD-10:Q93.5 UMLS:C4750911 Unknown Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401935 14q24.1q24.3 microdeletion syndrome ORPHA:401935 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750911 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Orphanet ICD-10:Q36.1 OMIM:615892 UMLS:C4305376 Unknown Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401942 Familial median cleft of the upper and lower lips ORPHA:401942 ICD-10:Q36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615892 E (Exact mapping: the two concepts are equivalent) UMLS:C4305376 E (Exact mapping: the two concepts are equivalent) Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. Orphanet ICD-10:I67.5 OMIM:615750 UMLS:C4305378 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401945 Moyamoya disease with early-onset achalasia ORPHA:401945 ICD-10:I67.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615750 E (Exact mapping: the two concepts are equivalent) UMLS:C4305378 E (Exact mapping: the two concepts are equivalent) CA-VA deficiency A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine. Orphanet ICD-10:E74.8 OMIM:615751 UMLS:C4706871 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ORPHA:401948 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615751 E (Exact mapping: the two concepts are equivalent) UMLS:C4706871 E (Exact mapping: the two concepts are equivalent) Episodic ataxia type 8 Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus. Orphanet ICD-10:G11.8 OMIM:616055 UMLS:C4015108 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401953 Episodic ataxia with slurred speech ORPHA:401953 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616055 E (Exact mapping: the two concepts are equivalent) UMLS:C4015108 E (Exact mapping: the two concepts are equivalent) Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. Orphanet ICD-10:Q04.3 UMLS:C4750913 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ORPHA:401959 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750913 E (Exact mapping: the two concepts are equivalent) Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons CMT2 with giant axons HMSN2 with giant axons A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. Orphanet ICD-10:G60.0 OMIM:610100 UMLS:C5190585 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons ORPHA:401964 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610100 E (Exact mapping: the two concepts are equivalent) UMLS:C5190585 E (Exact mapping: the two concepts are equivalent) Male EBP disorder with neurological defects A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated. Orphanet ICD-10:Q87.8 OMIM:300960 UMLS:C4085243 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401973 MEND syndrome ORPHA:401973 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300960 E (Exact mapping: the two concepts are equivalent) UMLS:C4085243 E (Exact mapping: the two concepts are equivalent) A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. Orphanet ICD-10:Q77.8 OMIM:613320 UMLS:C5190608 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type ORPHA:401979 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613320 E (Exact mapping: the two concepts are equivalent) UMLS:C5190608 E (Exact mapping: the two concepts are equivalent) Del(1)(p31p32) Monosomy 1p31p32 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. Orphanet ICD-10:Q93.5 OMIM:613735 UMLS:C4707828 Unknown Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401986 1p31p32 microdeletion syndrome ORPHA:401986 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613735 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707828 E (Exact mapping: the two concepts are equivalent) UMLS:C5681139 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401993 Cold-induced sweating syndrome-hyperthermia spectrum Clinical group ORPHA:401993 UMLS:C5681139 E (Exact mapping: the two concepts are equivalent) KIN Systemic karyomegaly A rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei. Orphanet ICD-10:N11.8 OMIM:614817 UMLS:C3553774 Autosomal recessive Adult Worldwide AND has_cases/families_value : 12.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=401996 Karyomegalic interstitial nephritis ORPHA:401996 ICD-10:N11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614817 E (Exact mapping: the two concepts are equivalent) UMLS:C3553774 E (Exact mapping: the two concepts are equivalent) A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis. Orphanet ICD-10:Q82.8 OMIM:615735 UMLS:C5190822 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering ORPHA:402003 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615735 E (Exact mapping: the two concepts are equivalent) UMLS:C5190822 E (Exact mapping: the two concepts are equivalent) ICD-11:EB90.1 MedDRA:10055046 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402007 Lichen myxedematosus Clinical group ORPHA:402007 ICD-11:EB90.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10055046 E (Exact mapping: the two concepts are equivalent) AML with t(6;9)(p23;q34) A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. Orphanet ICD-10:C92.0 UMLS:C4518837 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402014 Acute myeloid leukemia with t(6;9)(p23;q34) ORPHA:402014 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518837 E (Exact mapping: the two concepts are equivalent) AML with t(9;11)(p22;q23) A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding. Orphanet ICD-10:C92.0 UMLS:C5680013 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402017 Acute myeloid leukemia with t(9;11)(p22;q23) ORPHA:402017 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680013 E (Exact mapping: the two concepts are equivalent) AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. Orphanet ICD-10:C92.0 UMLS:C2826172 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) ORPHA:402020 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2826172 E (Exact mapping: the two concepts are equivalent) Megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. Orphanet ICD-10:C94.2 UMLS:C4706584 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) ORPHA:402023 ICD-10:C94.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706584 E (Exact mapping: the two concepts are equivalent) AML with NPM1 somatic mutations A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the <i>NPM1</i> gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Orphanet ICD-10:C92.0 UMLS:C4706386 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402026 Acute myeloid leukemia with NPM1 somatic mutations ORPHA:402026 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706386 E (Exact mapping: the two concepts are equivalent) EGID UMLS:C5680014 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402029 Primary eosinophilic gastrointestinal disease Clinical group ORPHA:402029 UMLS:C5680014 E (Exact mapping: the two concepts are equivalent) A rare gastroenterologic disease characterized by extensive eosinophilic infiltration of the colon in the absence of any known cause of secondary intestinal eosinophilia. Patients present with abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, malabsorption, and/or weight loss. Symptoms do not correlate with the extent of the disease, which can be segmental or pancolonic. Blood testing may show peripheral eosinophilia. The condition has a bimodal age distribution, with a first peak in neonates and a second peak in young adulthood. Orphanet ICD-10:K52.8 ICD-11:DB33.2Y MedDRA:10057271 UMLS:C0267448 Adult Infancy Worldwide AND has_cases/families_value : 196.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402035 Eosinophilic colitis ORPHA:402035 ICD-10:K52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB33.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10057271 E (Exact mapping: the two concepts are equivalent) UMLS:C0267448 E (Exact mapping: the two concepts are equivalent) AR dRTA Autosomal recessive distal RTA A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features. Orphanet ICD-10:N25.8 MeSH:C537758 OMIM:267300 OMIM:602722 UMLS:C1864498 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402041 Autosomal recessive distal renal tubular acidosis Clinical subtype ORPHA:402041 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537758 E (Exact mapping: the two concepts are equivalent) OMIM:267300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602722 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1864498 E (Exact mapping: the two concepts are equivalent) Familial BAV Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). Orphanet ICD-10:Q23.1 OMIM:109730 OMIM:614823 UMLS:C4749284 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402075 Familial bicuspid aortic valve ORPHA:402075 ICD-10:Q23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:109730 E (Exact mapping: the two concepts are equivalent) OMIM:614823 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749284 E (Exact mapping: the two concepts are equivalent) EPM5 PME type 5 Progressive myoclonus epilepsy type 5 A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. Orphanet ICD-10:G40.3 OMIM:607459 UMLS:C5190799 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402082 Progressive myoclonic epilepsy type 5 ORPHA:402082 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607459 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5190799 E (Exact mapping: the two concepts are equivalent) Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. Orphanet ICD-10:Q04.3 OMIM:613668 UMLS:C4749432 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ORPHA:402364 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613668 E (Exact mapping: the two concepts are equivalent) UMLS:C4749432 E (Exact mapping: the two concepts are equivalent) 5q32 DFNB101 Ensembl:ENSG00000204928 HGNC:33862 OMIM:615762 SwissProt:A6NFK2 GRXCR2 glutaredoxin and cysteine rich domain containing 2 12p12.3 ClinVar:EPS8 Ensembl:ENSG00000151491 Genatlas:EPS8 HGNC:3420 OMIM:600206 Reactome:Q12929 SwissProt:Q12929 EPS8 EGFR pathway substrate 8, signaling adaptor 4q27 IL-21 Za11 ClinVar:IL21 Ensembl:ENSG00000138684 Genatlas:IL21 HGNC:6005 OMIM:605384 SwissProt:Q9HBE4 IL21 interleukin 21 1p21.1 FLJ20008 KIAA1839 RBM40 SNRNP65 U11/U12 snRNP 65K ClinVar:RNPC3 Ensembl:ENSG00000185946 Genatlas:RNPC3 HGNC:18666 OMIM:618016 Reactome:Q96LT9 SwissProt:Q96LT9 RNPC3 RNA binding region (RNP1, RRM) containing 3 15q26.2 COUP transcription factor II COUP-TFII COUPTF2 COUPTFB NF-E3 SVP40 ClinVar:NR2F2 Ensembl:ENSG00000185551 Genatlas:NR2F2 HGNC:7976 IUPHAR:618 OMIM:107773 Reactome:P24468 SwissProt:P24468 NR2F2 nuclear receptor subfamily 2 group F member 2 2q24.2 Hlcd IDDM19 MDA-5 MDA5 helicard melanoma differentiation-associated gene 5 ClinVar:IFIH1 Ensembl:ENSG00000115267 Genatlas:IFIH1 HGNC:18873 IUPHAR:2921 OMIM:606951 Reactome:Q9BYX4 SwissProt:Q9BYX4 IFIH1 interferon induced with helicase C domain 1 2q36.1 AP-1 complex subunit sigma 3 sigma1C ClinVar:AP1S3 Ensembl:ENSG00000152056 Genatlas:AP1S3 HGNC:18971 OMIM:615781 Reactome:Q96PC3 SwissProt:Q96PC3 AP1S3 adaptor related protein complex 1 subunit sigma 3 14q11.2 Hsal2 KIAA0360 ZNF795 ClinVar:SALL2 Ensembl:ENSG00000165821 Genatlas:SALL2 HGNC:10526 OMIM:602219 Reactome:Q9Y467 SwissProt:Q9Y467 SALL2 spalt like transcription factor 2 9q31.3 PTPH1 ClinVar:PTPN3 Ensembl:ENSG00000070159 Genatlas:PTPN3 HGNC:9655 OMIM:176877 Reactome:P26045 SwissProt:P26045 PTPN3 protein tyrosine phosphatase non-receptor type 3 HDV Hepatitis D virus Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported. Orphanet ICD-10:B17.0 ICD-11:1E51.2 MeSH:D003699 MedDRA:10019762 UMLS:C0011226 Not applicable All ages Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=402823 Hepatitis delta ORPHA:402823 ICD-10:B17.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1E51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003699 E (Exact mapping: the two concepts are equivalent) MedDRA:10019762 E (Exact mapping: the two concepts are equivalent) UMLS:C0011226 E (Exact mapping: the two concepts are equivalent) Dexamethasone-sensitive hypertension FH-I FH1 Familial hyperaldosteronism type 1 GRA Glucocorticoid-remediable aldosteronism Glucocorticoid-sensitive hypertension A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. Orphanet ICD-10:E26.0 ICD-11:5A72.0 MeSH:C563177 OMIM:103900 UMLS:C3838731 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=403 Familial hyperaldosteronism type I ORPHA:403 ICD-10:E26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563177 E (Exact mapping: the two concepts are equivalent) OMIM:103900 E (Exact mapping: the two concepts are equivalent) UMLS:C3838731 E (Exact mapping: the two concepts are equivalent) 16p13.13 XMP ClinVar:EMP2 Ensembl:ENSG00000213853 Genatlas:EMP2 HGNC:3334 OMIM:602334 SwissProt:P54851 EMP2 epithelial membrane protein 2 9q32 HPRP4 HPRP4P PRP4 PRP4/STK/WD splicing factor Prp4p SNRNP60 U4/U6 small nuclear ribonucleoprotein Prp4 ClinVar:PRPF4 Ensembl:ENSG00000136875 Genatlas:PRPF4 HGNC:17349 OMIM:607795 Reactome:O43172 SwissProt:O43172 PRPF4 pre-mRNA splicing tri-snRNP complex factor PRPF4 7q32-q33 HGNC:37475 SCA32 spinocerebellar ataxia 32 9q22.32 FLJ37706 HEBO RAD26L ClinVar:ERCC6L2 Ensembl:ENSG00000182150 Genatlas:ERCC6L2 HGNC:26922 OMIM:615667 SwissProt:Q5T890 ERCC6L2 ERCC excision repair 6 like 2 10q22.1 CALC EFHA3 FLJ12684 ClinVar:MICU1 Ensembl:ENSG00000107745 Genatlas:MICU1 HGNC:1530 OMIM:605084 Reactome:Q9BPX6 SwissProt:Q9BPX6 MICU1 mitochondrial calcium uptake 1 5q15 COUP-TFI COUPTF1 EAR-3 SVP44 TCFCOUP1 ClinVar:NR2F1 Ensembl:ENSG00000175745 Genatlas:NR2F1 HGNC:7975 IUPHAR:617 OMIM:132890 Reactome:P10589 SwissProt:P10589 NR2F1 nuclear receptor subfamily 2 group F member 1 16p12.3 AIP1 ARMER KIAA0069 SPG61 ClinVar:ARL6IP1 Ensembl:ENSG00000170540 Genatlas:ARL6IP1 HGNC:697 OMIM:607669 Reactome:Q15041 SwissProt:Q15041 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 10q24.31 Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 Erlin-1 KE04 SPG62 ClinVar:ERLIN1 Ensembl:ENSG00000107566 Genatlas:ERLIN1 HGNC:16947 OMIM:611604 Reactome:O75477 SwissProt:O75477 ERLIN1 ER lipid raft associated 1 15q21.2 HumORF8 KIAA0055 SPG59 UBPY Ubiquitin carboxyl-terminal hydrolase 8 Ubiquitin isopeptidase Y ClinVar:USP8 Ensembl:ENSG00000138592 Genatlas:USP8 HGNC:12631 IUPHAR:3209 OMIM:603158 Reactome:P40818 SwissProt:P40818 USP8 ubiquitin specific peptidase 8 3p22.2 Bun62 KIAA1449 P80 SPG60 ClinVar:WDR48 Ensembl:ENSG00000114742 Genatlas:WDR48 HGNC:30914 OMIM:612167 Reactome:Q8TAF3 SwissProt:Q8TAF3 WDR48 WD repeat domain 48 10q24.1 ATPDase NTPDase-1 SPG64 ClinVar:ENTPD1 Ensembl:ENSG00000138185 Genatlas:ENTPD1 HGNC:3363 IUPHAR:2888 OMIM:601752 Reactome:P49961 SwissProt:P49961 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 5q32 FLJ16069 SPG66 ClinVar:ARSI Ensembl:ENSG00000183876 Genatlas:ARSI HGNC:32521 OMIM:610009 Reactome:Q5FYB1 SwissProt:Q5FYB1 ARSI arylsulfatase family member I 2q33.1 Bst1 FLJ12377 GPI inositol-deacylase SPG67 ClinVar:PGAP1 Ensembl:ENSG00000197121 Genatlas:PGAP1 HGNC:25712 OMIM:611655 Reactome:Q75T13 SwissProt:Q75T13 PGAP1 post-GPI attachment to proteins inositol deacylase 1 11q13.1 MGC21624 SPG68 ClinVar:FLRT1 Ensembl:ENSG00000126500 Genatlas:FLRT1 HGNC:3760 OMIM:604806 Reactome:Q9NZU1 SwissProt:Q9NZU1 FLRT1 fibronectin leucine rich transmembrane protein 1 5p13.3 SPG71 ZFR1 ClinVar:ZFR Ensembl:ENSG00000056097 Genatlas:ZFR HGNC:17277 OMIM:615635 SwissProt:Q96KR1 ZFR zinc finger RNA binding protein 5q31.2 SGC32445 SPG72 Yip2d ClinVar:REEP2 Ensembl:ENSG00000132563 Genatlas:REEP2 HGNC:17975 OMIM:609347 Reactome:Q9BRK0 SwissProt:Q9BRK0 REEP2 receptor accessory protein 2 5q11.2 FLJ22422 UDG2 UNG2 ClinVar:CCNO Ensembl:ENSG00000152669 Genatlas:CCNO HGNC:18576 OMIM:607752 Reactome:P22674 SwissProt:P22674 CCNO cyclin O Fetal acitretin/etretinate syndrome Retinoid embryopathy A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. Orphanet ICD-10:Q86.8 UMLS:C4510941 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=40366 Acitretin/etretinate embryopathy ORPHA:40366 ICD-10:Q86.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510941 E (Exact mapping: the two concepts are equivalent) 17q21.2 CNTNAP Caspr neurexin 4 p190 ClinVar:CNTNAP1 Ensembl:ENSG00000108797 Genatlas:CNTNAP1 HGNC:8011 OMIM:602346 Reactome:P78357 SwissProt:P78357 CNTNAP1 contactin associated protein 1 12q13.12 AC6 ClinVar:ADCY6 Ensembl:ENSG00000174233 Genatlas:ADCY6 HGNC:237 IUPHAR:1283 OMIM:600294 Reactome:O43306 SwissProt:O43306 ADCY6 adenylate cyclase 6 6q13-q14.1 collagen type XII proteoglycan ClinVar:COL12A1 Ensembl:ENSG00000111799 Genatlas:COL12A1 HGNC:2188 OMIM:120320 Reactome:Q99715 SwissProt:Q99715 COL12A1 collagen type XII alpha 1 chain 3p14.1 DKFZp686D143 ClinVar:PRICKLE2 Ensembl:ENSG00000163637 Genatlas:PRICKLE2 HGNC:20340 OMIM:608501 SwissProt:Q7Z3G6 PRICKLE2 prickle planar cell polarity protein 2 FH-II FH2 Familial hyperaldosteronism type 2 A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio. Orphanet ICD-10:E26.0 ICD-11:5A72.0 MeSH:C565312 OMIM:605635 UMLS:C1854107 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404 Familial hyperaldosteronism type II ORPHA:404 ICD-10:E26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565312 E (Exact mapping: the two concepts are equivalent) OMIM:605635 E (Exact mapping: the two concepts are equivalent) UMLS:C1854107 E (Exact mapping: the two concepts are equivalent) 4p14 LAS Lipoyl synthase, mitochondrial ClinVar:LIAS Ensembl:ENSG00000121897 Genatlas:LIAS HGNC:16429 OMIM:607031 Reactome:O43766 SwissProt:O43766 LIAS lipoic acid synthetase 19p13.12 Hsp40 RSPH16B Sis1 radial spoke 16 homolog B (Chlamydomonas) ClinVar:DNAJB1 Ensembl:ENSG00000132002 Genatlas:DNAJB1 HGNC:5270 OMIM:604572 Reactome:P25685 SwissProt:P25685 DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 19p13.12 PKA C-alpha PKACa cAMP-dependent protein kinase catalytic subunit alpha ClinVar:PRKACA Ensembl:ENSG00000072062 Genatlas:PRKACA HGNC:9380 IUPHAR:1476 OMIM:601639 Reactome:P17612 SwissProt:P17612 PRKACA protein kinase cAMP-activated catalytic subunit alpha 4q32.1 GC-SA3 ClinVar:GUCY1A3 Ensembl:ENSG00000164116 Genatlas:GUCY1A3 HGNC:4685 IUPHAR:1288 OMIM:139396 Reactome:Q02108 SwissProt:Q02108 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 16q24.2 CAV CAVA ClinVar:CA5A Ensembl:ENSG00000174990 Genatlas:CA5A HGNC:1377 IUPHAR:3093 OMIM:114761 Reactome:P35218 SwissProt:P35218 CA5A carbonic anhydrase 5A 7q22.1 IPOA8 importin alpha 8 Ensembl:ENSG00000185467 HGNC:21839 OMIM:614107 Reactome:A9QM74 SwissProt:A9QM74 KPNA7 karyopherin subunit alpha 7 1q23.2 FLJ35857 H326 Ensembl:ENSG00000132716 HGNC:24891 OMIM:615820 Reactome:Q5TAQ9 SwissProt:Q5TAQ9 DCAF8 DDB1 and CUL4 associated factor 8 A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Orphanet ICD-10:G98 OMIM:615760 UMLS:C5190583 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome ORPHA:404437 ICD-10:G98 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615760 E (Exact mapping: the two concepts are equivalent) UMLS:C5190583 E (Exact mapping: the two concepts are equivalent) A rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Orphanet ICD-10:Q87.0 OMIM:615761 UMLS:C5190582 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ORPHA:404440 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615761 E (Exact mapping: the two concepts are equivalent) UMLS:C5190582 E (Exact mapping: the two concepts are equivalent) DNMT3A-related overgrowth syndrome Tatton-Brown-Rahman overgrowth syndrome A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation). Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:615879 UMLS:C4014545 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404443 Tatton-Brown-Rahman syndrome ORPHA:404443 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615879 E (Exact mapping: the two concepts are equivalent) UMLS:C4014545 E (Exact mapping: the two concepts are equivalent) ADNP-related syndromic intellectual disability-autism spectrum disorder HVDAS Helsmoortel-Van Der Aa Syndrome A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features. Orphanet ICD-10:Q87.0 MedDRA:10083856 OMIM:615873 UMLS:C4014538 Unknown Childhood Infancy Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404448 ADNP syndrome ORPHA:404448 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10083856 E (Exact mapping: the two concepts are equivalent) OMIM:615873 E (Exact mapping: the two concepts are equivalent) UMLS:C4014538 E (Exact mapping: the two concepts are equivalent) FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a <i> FLBN1 </i> gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. Orphanet ICD-10:Q87.8 UMLS:C4751506 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome ORPHA:404451 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751506 E (Exact mapping: the two concepts are equivalent) NGLY1 deficiency NGLY1-CDDG A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities. Orphanet ICD-10:E77.8 MeSH:C000626124 OMIM:615273 UMLS:C3808991 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404454 Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000626124 E (Exact mapping: the two concepts are equivalent) OMIM:615273 E (Exact mapping: the two concepts are equivalent) UMLS:C3808991 E (Exact mapping: the two concepts are equivalent) A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. Orphanet ICD-10:I73.8 OMIM:613834 UMLS:C3151201 Unknown Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404463 Multisystemic smooth muscle dysfunction syndrome ORPHA:404463 ICD-10:I73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613834 E (Exact mapping: the two concepts are equivalent) UMLS:C3151201 E (Exact mapping: the two concepts are equivalent) Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. Orphanet ICD-10:N97.8 OMIM:615774 OMIM:617712 OMIM:618353 UMLS:C4749433 Autosomal dominant Autosomal recessive Adult Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404466 Female infertility due to zona pellucida defect ORPHA:404466 ICD-10:N97.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615774 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617712 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618353 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749433 E (Exact mapping: the two concepts are equivalent) UMLS:C5681140 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404469 Rare female infertility due to oocyte maturation defect Category ORPHA:404469 UMLS:C5681140 E (Exact mapping: the two concepts are equivalent) CTNNB1 syndrome A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. Orphanet ICD-10:G80.1 OMIM:615075 UMLS:C5190576 Unknown Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404473 Severe intellectual disability-progressive spastic diplegia syndrome ORPHA:404473 ICD-10:G80.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615075 E (Exact mapping: the two concepts are equivalent) UMLS:C5190576 E (Exact mapping: the two concepts are equivalent) GLOW syndrome Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:618272 UMLS:C4748924 Not applicable Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618272 E (Exact mapping: the two concepts are equivalent) UMLS:C4748924 E (Exact mapping: the two concepts are equivalent) UMLS:C5681145 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Clinical group ORPHA:404481 UMLS:C5681145 E (Exact mapping: the two concepts are equivalent) SCAR23 Spinocerebellar ataxia autosomal recessive type 23 A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. Orphanet ICD-10:G11.1 OMIM:616949 UMLS:C4750914 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616949 E (Exact mapping: the two concepts are equivalent) UMLS:C4750914 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 15 SCAR15 Salih ataxia An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. Orphanet ICD-10:G11.1 OMIM:615705 UMLS:C3810326 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615705 E (Exact mapping: the two concepts are equivalent) UMLS:C3810326 E (Exact mapping: the two concepts are equivalent) A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence. Orphanet ICD-10:D16.9 UMLS:C0221290 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404507 Chondromyxoid fibroma ORPHA:404507 ICD-10:D16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0221290 E (Exact mapping: the two concepts are equivalent) Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. Orphanet ICD-10:C64 MedDRA:10085663 UMLS:C4518333 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404511 Clear cell papillary renal cell carcinoma Histopathological subtype ORPHA:404511 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10085663 E (Exact mapping: the two concepts are equivalent) UMLS:C4518333 E (Exact mapping: the two concepts are equivalent) A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. Orphanet ICD-10:C64 UMLS:C4707179 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404514 Acquired cystic disease-associated renal cell carcinoma ORPHA:404514 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707179 E (Exact mapping: the two concepts are equivalent) Diaphragmatic spinal muscular atrophy type 2 SMARD2 Severe infantile axonal neuropathy with respiratory failure type 2 X-linked spinal muscular atrophy with respiratory distress Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. Orphanet ICD-10:G12.2 UMLS:C4749434 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404521 Spinal muscular atrophy with respiratory distress type 2 ORPHA:404521 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749434 E (Exact mapping: the two concepts are equivalent) X-linked dHMN X-linked distal spinal muscular atrophy UMLS:C5548214 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404538 X-linked distal hereditary motor neuropathy Category ORPHA:404538 UMLS:C5548214 E (Exact mapping: the two concepts are equivalent) Deficiency of IL-36R antagonist Deficiency of IL-36Ra A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated. Orphanet ICD-10:L40.1 OMIM:614204 UMLS:C4759670 Autosomal recessive All ages Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404546 DITRA ORPHA:404546 ICD-10:L40.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614204 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4759670 E (Exact mapping: the two concepts are equivalent) DADA2 Deficiency of adenosine deaminase 2 Vasculitis due to ADA2 deficiency Vasculitis due to DADA2 Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. Orphanet ICD-10:M30.8 OMIM:615688 UMLS:C4749403 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 48.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404553 Adenosine deaminase 2 deficiency ORPHA:404553 ICD-10:M30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615688 E (Exact mapping: the two concepts are equivalent) UMLS:C4749403 E (Exact mapping: the two concepts are equivalent) B-K mole syndrome FAMM-PC syndrome FAMMM syndrome Familial atypical mole syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial dysplastic nevus syndrome Melanoma-pancreatic cancer syndrome Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies. Orphanet ICD-10:C43.9 OMIM:155600 OMIM:606719 UMLS:C2314896 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404560 Familial atypical multiple mole melanoma syndrome ORPHA:404560 ICD-10:C43.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:155600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606719 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2314896 E (Exact mapping: the two concepts are equivalent) UMLS:C5681144 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404568 Dysostosis of genetic origin Category ORPHA:404568 UMLS:C5681144 E (Exact mapping: the two concepts are equivalent) UMLS:C5681143 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404571 Dysostosis of genetic origin with limb anomaly as a major feature Category ORPHA:404571 UMLS:C5681143 E (Exact mapping: the two concepts are equivalent) UMLS:C5681142 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404574 Genetic syndrome with limb reduction defects Category ORPHA:404574 UMLS:C5681142 E (Exact mapping: the two concepts are equivalent) UMLS:C5681141 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404577 Genetic syndrome with limb malformations as a major feature Category ORPHA:404577 UMLS:C5681141 E (Exact mapping: the two concepts are equivalent) Juvenile polyarthritis Juvenile polyarticular arthritis Polyarticular JIA A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation. Orphanet UMLS:C4521004 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404580 Polyarticular juvenile idiopathic arthritis Clinical group ORPHA:404580 UMLS:C4521004 E (Exact mapping: the two concepts are equivalent) Rare genetic skeletal development disorder UMLS:C5680015 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404584 Rare genetic bone development disorder Category ORPHA:404584 UMLS:C5680015 E (Exact mapping: the two concepts are equivalent) 16p13.3 GPI1 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q hGPI1 ClinVar:PIGQ Ensembl:ENSG00000007541 Genatlas:PIGQ HGNC:14135 OMIM:605754 Reactome:Q9BRB3 SwissProt:Q9BRB3 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q 7p12.3 AC1 adenylyl cyclase subtype 1 ClinVar:ADCY1 Ensembl:ENSG00000164742 Genatlas:ADCY1 HGNC:232 IUPHAR:1278 OMIM:103072 Reactome:Q08828 SwissProt:Q08828 ADCY1 adenylate cyclase 1 22q12.3 BBS19 CFAP156 FAP156 RAYL ClinVar:RABL4 Ensembl:ENSG00000100360 Genatlas:RABL4 HGNC:18626 OMIM:615870 Reactome:Q9BW83 SwissProt:Q9BW83 IFT27 intraflagellar transport 27 16p13.3 Magmas TIMM16 Tim16 mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction ClinVar:MAGMAS Ensembl:ENSG00000217930 Genatlas:MAGMAS HGNC:29679 OMIM:614336 Reactome:Q9Y3D7 SwissProt:Q9Y3D7 PAM16 presequence translocase associated motor 16 1q32.2 FLJ10724 GUP2 MART-2 MART2 Skn protein-cysteine N-palmitoyltransferase HHAT rasp sit ski ClinVar:HHAT Ensembl:ENSG00000054392 Genatlas:HHAT HGNC:18270 OMIM:605743 Reactome:Q5VTY9 SwissProt:Q5VTY9 HHAT hedgehog acyltransferase 17q24.3 EST90625 ClinVar:ABCA5 Ensembl:ENSG00000154265 Genatlas:ABCA5 HGNC:35 IUPHAR:760 OMIM:612503 Reactome:Q8WWZ7 SwissProt:Q8WWZ7 ABCA5 ATP binding cassette subfamily A member 5 12q22 NPHP18 NY-REN-58 ClinVar:CEP83 Ensembl:ENSG00000173588 Genatlas:CEP83 HGNC:17966 OMIM:615847 Reactome:Q9Y592 SwissProt:Q9Y592 CEP83 centrosomal protein 83 FBH FBHH FHH Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. Orphanet ICD-10:E83.5 ICD-11:5A51.2 OMIM:145980 OMIM:145981 OMIM:600740 UMLS:C1809471 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=405 Familial hypocalciuric hypercalcemia ORPHA:405 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:145980 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:145981 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600740 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1809471 E (Exact mapping: the two concepts are equivalent) 7q32.2 pancreatic carboxypeptidase A ClinVar:CPA1 Ensembl:ENSG00000091704 Genatlas:CPA1 HGNC:2296 IUPHAR:1587 OMIM:114850 SwissProt:P15085 CPA1 carboxypeptidase A1 17q25.2 LOC124512 ClinVar:METTL23 Ensembl:ENSG00000181038 Genatlas:METTL23 HGNC:26988 OMIM:615262 SwissProt:Q86XA0 METTL23 methyltransferase 23, arginine 17q12 UNC45 ClinVar:UNC45B Ensembl:ENSG00000141161 Genatlas:UNC45B HGNC:14304 OMIM:611220 Reactome:Q8IWX7 SwissProt:Q8IWX7 UNC45B unc-45 myosin chaperone B NON RARE IN EUROPE: HeFH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E78.0 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia ORPHA:406 ICD-10:E78.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 2p25.2 SRY-related HMG-box gene 11 ClinVar:SOX11 Ensembl:ENSG00000176887 Genatlas:SOX11 HGNC:11191 OMIM:600898 SwissProt:P35716 SOX11 SRY-box transcription factor 11 20q13.13 ADNP homeobox 1 ADNP1 KIAA0784 activity-dependent neuroprotective protein ClinVar:ADNP Ensembl:ENSG00000101126 Genatlas:ADNP HGNC:15766 OMIM:611386 Reactome:Q9H2P0 SwissProt:Q9H2P0 ADNP activity dependent neuroprotector homeobox 2p23.3 ClinVar:DNMT3A Ensembl:ENSG00000119772 Genatlas:DNMT3A HGNC:2978 IUPHAR:2750 OMIM:602769 Reactome:Q9Y6K1 SwissProt:Q9Y6K1 DNMT3A DNA methyltransferase 3 alpha 12q24.31 CLIP CLIP-170 CLIP170 CYLN1 restin ClinVar:CLIP1 Ensembl:ENSG00000130779 Genatlas:CLIP1 HGNC:10461 OMIM:179838 Reactome:P30622 SwissProt:P30622 CLIP1 CAP-Gly domain containing linker protein 1 12p13.31 ClinVar:SLC2A3 Ensembl:ENSG00000059804 Genatlas:SLC2A3 HGNC:11007 IUPHAR:877 OMIM:138170 Reactome:P11169 SwissProt:P11169 SLC2A3 solute carrier family 2 member 3 1q32.1 DustyPK KIAA0472 RIP5 ClinVar:DSTYK Ensembl:ENSG00000133059 Genatlas:DSTYK HGNC:29043 IUPHAR:2008 OMIM:612666 SwissProt:Q6XUX3 DSTYK dual serine/threonine and tyrosine protein kinase 11q12.1 ClinVar:STX3 Ensembl:ENSG00000166900 Genatlas:STX3 HGNC:11438 OMIM:600876 Reactome:Q13277 SwissProt:Q13277 STX3 syntaxin 3 19p13.3 MCSP PHGPx phospholipid hydroperoxidase selenoprotein GPX4 ClinVar:GPX4 Ensembl:ENSG00000167468 Genatlas:GPX4 HGNC:4556 IUPHAR:3239 OMIM:138322 Reactome:P36969 SwissProt:P36969 GPX4 glutathione peroxidase 4 6p21.1 DFNB102 ClinVar:CLIC5 Ensembl:ENSG00000112782 Genatlas:CLIC5 HGNC:13517 OMIM:607293 SwissProt:Q9NZA1 CLIC5 chloride intracellular channel 5 15q14 HsT18361 MRG1 ClinVar:MEIS2 Ensembl:ENSG00000134138 Genatlas:MEIS2 HGNC:7001 OMIM:601740 SwissProt:O14770 MEIS2 Meis homeobox 2 19p13.11 KIAA1032 Munc13-1 ClinVar:UNC13A Ensembl:ENSG00000130477 Genatlas:UNC13A HGNC:23150 OMIM:609894 SwissProt:Q9UPW8 UNC13A unc-13 homolog A 14q21.3 S29 uS14 ClinVar:RPS29 Ensembl:ENSG00000213741 Genatlas:RPS29 HGNC:10419 OMIM:603633 Reactome:P62273 SwissProt:P62273 RPS29 ribosomal protein S29 22q11.23 MIX17 homolog A MIX17A N27C7-4 ClinVar:CHCHD10 Ensembl:ENSG00000250479 Genatlas:CHCHD10 HGNC:15559 OMIM:615903 Reactome:Q8WYQ3 SwissProt:Q8WYQ3 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 3p21.31 glutamine tRNA ligase ClinVar:QARS Ensembl:ENSG00000172053 Genatlas:QARS HGNC:9751 OMIM:603727 Reactome:P47897 SwissProt:P47897 QARS1 glutaminyl-tRNA synthetase 1 3p25.3 FLJ10707 SETD5A ClinVar:SETD5 Ensembl:ENSG00000168137 Genatlas:SETD5 HGNC:25566 OMIM:615743 SwissProt:Q9C0A6 SETD5 SET domain containing 5 3p24.2 FLJ11005 PNG-1 PNG1 peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase peptide:N-glycanase ClinVar:NGLY1 Ensembl:ENSG00000151092 Genatlas:NGLY1 HGNC:17646 OMIM:610661 Reactome:Q96IV0 SwissProt:Q96IV0 NGLY1 N-glycanase 1 11q12.2 ZPB1 ClinVar:ZP1 Ensembl:ENSG00000149506 Genatlas:ZP1 HGNC:13187 OMIM:195000 Reactome:P60852 SwissProt:P60852 ZP1 zona pellucida glycoprotein 1 6p22.3 ClinVar:TDP2 Ensembl:ENSG00000111802 Genatlas:TDP2 HGNC:17768 OMIM:605764 Reactome:O95551 SwissProt:O95551 TDP2 tyrosyl-DNA phosphodiesterase 2 3q29 rubicon rundataxin ClinVar:RUBCN Ensembl:ENSG00000145016 Genatlas:RUBCN HGNC:28991 OMIM:613516 Reactome:Q92622 SwissProt:Q92622 RUBCN rubicon autophagy regulator Xq12 FLJ12525 Las1 ClinVar:LAS1L Ensembl:ENSG00000001497 Genatlas:LAS1L HGNC:25726 OMIM:300964 Reactome:Q9Y4W2 SwissProt:Q9Y4W2 LAS1L LAS1 like ribosome biogenesis factor NKA Non-ketotic hyperglycinemia Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. Orphanet ICD-10:E72.5 ICD-11:5C50.70 MeSH:D020158 OMIM:605899 UMLS:C0751748 Autosomal recessive Infancy Neonatal Canada AND has_birth_prevalence_average_value : 1.59 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Saudi Arabia AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=407 Glycine encephalopathy ORPHA:407 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020158 E (Exact mapping: the two concepts are equivalent) OMIM:605899 E (Exact mapping: the two concepts are equivalent) UMLS:C0751748 E (Exact mapping: the two concepts are equivalent) 11q21 CRSP77 DRIP80 SRB4 TRAP80 ClinVar:MED17 Ensembl:ENSG00000042429 Genatlas:MED17 HGNC:2375 OMIM:603810 Reactome:Q9NVC6 SwissProt:Q9NVC6 MED17 mediator complex subunit 17 17p13.3 MyoIC NMI Unconventional myosin-Ic myr2 ClinVar:MYO1C Ensembl:ENSG00000197879 Genatlas:MYO1C HGNC:7597 OMIM:606538 Reactome:O00159 SwissProt:O00159 MYO1C myosin IC Hyperglycerolemia Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)). Orphanet ICD-10:E74.8 ICD-11:5C51.1 MeSH:C538138 OMIM:307030 X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=408 Isolated glycerol kinase deficiency ORPHA:408 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538138 E (Exact mapping: the two concepts are equivalent) OMIM:307030 E (Exact mapping: the two concepts are equivalent) 6p21.31 TAT1 Testis anion transporter 1 ClinVar:SLC26A8 Ensembl:ENSG00000112053 Genatlas:SLC26A8 HGNC:14468 IUPHAR:1105 OMIM:608480 Reactome:Q96RN1 SwissProt:Q96RN1 SLC26A8 solute carrier family 26 member 8 16p13.3 FLJ25410 ClinVar:sept-12 Ensembl:ENSG00000140623 Genatlas:SEPT12 HGNC:26348 OMIM:611562 Reactome:Q8IYM1 SwissProt:Q8IYM1 SEPTIN12 septin 12 3p21.1 DNAHC1 HDHC7 HL-11 HL11 XLHSRF-1 ClinVar:DNAH1 Ensembl:ENSG00000114841 Genatlas:DNAH1 HGNC:2940 OMIM:603332 SwissProt:Q9P2D7 DNAH1 dynein axonemal heavy chain 1 3p14.3 KIAA1601 SLAP Sarcolemmal-associated protein ClinVar:SLMAP Ensembl:ENSG00000163681 Genatlas:SLMAP HGNC:16643 OMIM:602701 Reactome:Q14BN4 SwissProt:Q14BN4 SLMAP sarcolemma associated protein Flegel disease A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial. Orphanet ICD-10:L98.8 ICD-11:ED5Y MeSH:C538377 MedDRA:10071311 OMIM:144150 UMLS:C0263420 Autosomal dominant Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=409 Hyperkeratosis lenticularis perstans ORPHA:409 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538377 E (Exact mapping: the two concepts are equivalent) MedDRA:10071311 E (Exact mapping: the two concepts are equivalent) OMIM:144150 E (Exact mapping: the two concepts are equivalent) UMLS:C0263420 E (Exact mapping: the two concepts are equivalent) Idiopathic retinal perivasculitis Idiopathic retinal vasculitis A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. Orphanet ICD-10:H35.0 ICD-11:9B77 MeSH:C538011 MedDRA:10057429 UMLS:C0271073 Multigenic/multifactorial Not applicable Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=40923 Eales disease ORPHA:40923 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9B77 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538011 E (Exact mapping: the two concepts are equivalent) MedDRA:10057429 E (Exact mapping: the two concepts are equivalent) UMLS:C0271073 E (Exact mapping: the two concepts are equivalent) 9p21.3 FLJ13568 KIAA1354 ClinVar:KLHL9 Ensembl:ENSG00000198642 Genatlas:KLHL9 HGNC:18732 OMIM:611201 Reactome:Q9P2J3 SwissProt:Q9P2J3 KLHL9 kelch like family member 9 2q35 ClinVar:CRYBA2 Ensembl:ENSG00000163499 Genatlas:CRYBA2 HGNC:2395 OMIM:600836 Reactome:P53672 SwissProt:P53672 CRYBA2 crystallin beta A2 1p31.3 KIAA1439 NFI-L ClinVar:NFIA Ensembl:ENSG00000162599 Genatlas:NFIA HGNC:7784 OMIM:600727 Reactome:Q12857 SwissProt:Q12857 NFIA nuclear factor I A 9p21.3 AF-9 AF9 YEATS3 ClinVar:MLLT3 Ensembl:ENSG00000171843 Genatlas:MLLT3 HGNC:7136 OMIM:159558 Reactome:P42568 SwissProt:P42568 MLLT3 MLLT3 super elongation complex subunit 3q21.3 OST1 oligosaccharyltransferase 1 homolog (S. cerevisiae) oligosaccharyltransferase complex subunit (non-catalytic) ClinVar:RPN1 Ensembl:ENSG00000163902 Genatlas:RPN1 HGNC:10381 OMIM:180470 Reactome:P04843 SwissProt:P04843 RPN1 ribophorin I 1p13.3 OTT OTT1 one twenty-two ClinVar:RBM15 Ensembl:ENSG00000162775 Genatlas:RBM15 HGNC:14959 OMIM:606077 SwissProt:Q96T37 RBM15 RNA binding motif protein 15 22q13.1-q13.2 BSAC KIAA1438 MAL MKL MRTF-A basic, SAP and coiled-coil domain megakaryocytic acute leukemia myocardin-related transcription factor A ClinVar:MKL1 Ensembl:ENSG00000196588 Genatlas:MKL1 HGNC:14334 OMIM:606078 Reactome:Q969V6 SwissProt:Q969V6 MRTFA myocardin related transcription factor A Acropigmentation of Dohi A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities. Orphanet ICD-10:L81.8 ICD-11:EC23.Y MeSH:C535729 OMIM:127400 UMLS:C0406775 Autosomal dominant Childhood Japan AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=41 Dyschromatosis symmetrica hereditaria ORPHA:41 ICD-10:L81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535729 E (Exact mapping: the two concepts are equivalent) OMIM:127400 E (Exact mapping: the two concepts are equivalent) UMLS:C0406775 E (Exact mapping: the two concepts are equivalent) Chromosomal region associated with a hereditary disorder but without any precision on the possible associated gene. disorder-associated locus DNA sequence translated into protein. gene with protein product RNA transcript not translated into protein. non coding RNA 8p21.3 HO57 V-ATPase subunit B2 VATB Vma2 ClinVar:ATP6V1B2 Ensembl:ENSG00000147416 Genatlas:ATP6V1B2 HGNC:854 IUPHAR:812 OMIM:606939 Reactome:P21281 SwissProt:P21281 ATP6V1B2 ATPase H+ transporting V1 subunit B2 12q21.33 FLJ14923 TUWD12 ClinVar:POC1B Ensembl:ENSG00000139323 Genatlas:POC1B HGNC:30836 OMIM:614784 Reactome:Q8TC44 SwissProt:Q8TC44 POC1B POC1 centriolar protein B 4q21.22 JKTBP laAUF1 ClinVar:HNRPDL Ensembl:ENSG00000152795 Genatlas:HNRPDL HGNC:5037 OMIM:607137 Reactome:O14979 SwissProt:O14979 HNRNPDL heterogeneous nuclear ribonucleoprotein D like 6p22.3 DIFF48 KIAA0386 MYONAP myogenesis-related and NCAM-associated protein homolog (chicken) ClinVar:FAM65B Ensembl:ENSG00000111913 Genatlas:FAM65B HGNC:13872 OMIM:611410 Reactome:Q9Y4F9 SwissProt:Q9Y4F9 RIPOR2 RHO family interacting cell polarization regulator 2 Xq28 and Yq12 TI-VAMP VAMP-7 ClinVar:VAMP7 Ensembl:ENSG00000124333 Genatlas:VAMP7 HGNC:11486 OMIM:300053 Reactome:P51809 SwissProt:P51809 VAMP7 vesicle associated membrane protein 7 10q21.3 DKFZp761F0118 FLJ14374 KDM3C KIAA1380 ClinVar:JMJD1C Ensembl:ENSG00000171988 Genatlas:JMJD1C HGNC:12313 IUPHAR:2663 OMIM:604503 Reactome:Q15652 SwissProt:Q15652 JMJD1C jumonji domain containing 1C Xp11.23 JM1 ClinVar:CCDC22 Ensembl:ENSG00000101997 Genatlas:CCDC22 HGNC:28909 OMIM:300859 Reactome:O60826 SwissProt:O60826 CCDC22 coiled-coil domain containing 22 3q26.32 C21 DC42 F-box-like/WD repeat-containing protein TBL1XR1 FLJ12894 IRA1 TBL1-related protein TBLR1 ClinVar:TBL1XR1 Ensembl:ENSG00000177565 Genatlas:TBL1XR1 HGNC:29529 OMIM:608628 Reactome:Q9BZK7 SwissProt:Q9BZK7 TBL1XR1 TBL1X/Y related 1 2q35 BPEG KIAA1297 MGC12676 MYLK6 SPEGalpha SPEGbeta striated muscle preferentially expressed protein kinase ClinVar:SPEG Ensembl:ENSG00000072195 Genatlas:SPEG HGNC:16901 IUPHAR:2203 OMIM:615950 Reactome:Q15772 SwissProt:Q15772 SPEG striated muscle enriched protein kinase 3q13.31 DKFZp566F123 DPZF ODA-8S ClinVar:ZBTB20 Ensembl:ENSG00000181722 Genatlas:ZBTB20 HGNC:13503 OMIM:606025 SwissProt:Q9HC78 ZBTB20 zinc finger and BTB domain containing 20 18p11.31 ClinVar:LAMA1 Ensembl:ENSG00000101680 Genatlas:LAMA1 HGNC:6481 OMIM:150320 Reactome:P25391 SwissProt:P25391 LAMA1 laminin subunit alpha 1 17q11.2 DKFZP564K1964 Ensembl:ENSG00000006042 HGNC:24529 OMIM:615949 SwissProt:Q9Y2Y6 TMEM98 transmembrane protein 98 5q12.1 KIAA1577 ClinVar:ZSWIM6 Ensembl:ENSG00000130449 Genatlas:ZSWIM6 HGNC:29316 OMIM:615951 SwissProt:Q9HCJ5 ZSWIM6 zinc finger SWIM-type containing 6 16q24.2 FBX14 FBXO14 Fbx31 MGC15419 ClinVar:FBXO31 Ensembl:ENSG00000103264 Genatlas:FBXO31 HGNC:16510 OMIM:609102 Reactome:Q5XUX0 SwissProt:Q5XUX0 FBXO31 F-box protein 31 1p34.2 leukocyte antigen-related tyrosine phosphatase leukocyte common antigen related ClinVar:PTPRF Ensembl:ENSG00000142949 Genatlas:PTPRF HGNC:9670 IUPHAR:1855 OMIM:179590 Reactome:P10586 SwissProt:P10586 PTPRF protein tyrosine phosphatase receptor type F 7q31.32 ClinVar:FEZF1 Ensembl:ENSG00000128610 Genatlas:FEZF1 HGNC:22788 OMIM:613301 SwissProt:A0PJY2 FEZF1 FEZ family zinc finger 1 7p14.2 ANILLIN Scraps scra ClinVar:ANLN Ensembl:ENSG00000011426 Genatlas:ANLN HGNC:14082 OMIM:616027 SwissProt:Q9NQW6 ANLN anillin, actin binding protein HLP type 1 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial chylomicronemia syndrome UMLS:C0023817 Hyperlipoproteinemia type 1 ORPHA:411 UMLS:C0023817 E (Exact mapping: the two concepts are equivalent) 19p13.2 MGC20983 ODA10 ClinVar:CCDC151 Ensembl:ENSG00000198003 Genatlas:CCDC151 HGNC:28303 OMIM:615956 Reactome:A5D8V7 SwissProt:A5D8V7 ODAD3 outer dynein arm docking complex subunit 3 3q23 GAP1M Ras GTPase-activating protein 2 ClinVar:RASA2 Ensembl:ENSG00000155903 Genatlas:RASA2 HGNC:9872 OMIM:601589 Reactome:Q15283 SwissProt:Q15283 RASA2 RAS p21 protein activator 2 20p13 COD Sm-B/B' SmB/SmB' snRNP-B ClinVar:SNRPB Ensembl:ENSG00000125835 Genatlas:SNRPB HGNC:11153 OMIM:182282 Reactome:P14678 SwissProt:P14678 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 CLP1-related pontocerebellar hypoplasia PCH10 A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Orphanet ICD-10:Q04.3 OMIM:615803 UMLS:C5190575 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411493 Pontocerebellar hypoplasia type 10 ORPHA:411493 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615803 E (Exact mapping: the two concepts are equivalent) UMLS:C5190575 E (Exact mapping: the two concepts are equivalent) A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing. Orphanet ICD-10:Q33.4 ICD-11:LA74.Y UMLS:C0340231 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411501 Williams-Campbell syndrome ORPHA:411501 ICD-10:Q33.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0340231 E (Exact mapping: the two concepts are equivalent) ICD-10:Q93.5 ICD-11:LD90.0 OMIM:105830 UMLS:C5681146 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411511 Angelman syndrome due to a point mutation Etiological subtype ORPHA:411511 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:105830 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681146 E (Exact mapping: the two concepts are equivalent) ICD-10:Q93.5 ICD-11:LD90.0 UMLS:C5681834 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411515 Angelman syndrome due to imprinting defect in 15q11-q13 Etiological subtype ORPHA:411515 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681834 E (Exact mapping: the two concepts are equivalent) CRVO A rare retinal vasculopathy characterized by impaired venous return from the retinal circulation due to an occlusion occurring within or posterior to the optic nerve head. The clinical presentation is variable and may range from asymptomatic to an abrupt and profound loss of vision. Complications causing visual loss include macular edema, macular ischemia, optic neuropathy, vitreous hemorrhage, tractional retinal detachment, and in more severe cases extensive capillary non-perfusion with a high risk of neovascular glaucoma. Orphanet ICD-10:H34.8 ICD-11:9B74.1 MedDRA:10007972 UMLS:C0154841 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 28.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411527 Central retinal vein occlusion ORPHA:411527 ICD-10:H34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10007972 E (Exact mapping: the two concepts are equivalent) UMLS:C0154841 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Melanoma ORPHA:411533 Mild PRPP synthetase superactivity Mild PRPS1 superactivity A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. Orphanet ICD-10:E79.8 ICD-11:5C55.0Y OMIM:300661 UMLS:C5680016 X-linked recessive Adolescent Adult Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411536 Mild phosphoribosylpyrophosphate synthetase superactivity Clinical subtype ORPHA:411536 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300661 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680016 E (Exact mapping: the two concepts are equivalent) Severe PRPP synthetase superactivity Severe PRPS1 superactivity A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia. Orphanet ICD-10:E79.8 ICD-11:5C55.0Y OMIM:300661 UMLS:C5680017 X-linked recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411543 Severe phosphoribosylpyrophosphate synthetase superactivity Clinical subtype ORPHA:411543 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300661 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680017 E (Exact mapping: the two concepts are equivalent) Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. Orphanet ICD-10:E34.8 OMIM:614296 UMLS:C4518338 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411590 Wolfram-like syndrome ORPHA:411590 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614296 E (Exact mapping: the two concepts are equivalent) UMLS:C4518338 E (Exact mapping: the two concepts are equivalent) Hirata disease A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications. Orphanet ICD-10:E16.1 MedDRA:10022472 UMLS:C0854359 Not applicable Adult Elderly Worldwide AND has_cases/families_value : 404.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411593 Insulin autoimmune syndrome ORPHA:411593 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10022472 E (Exact mapping: the two concepts are equivalent) UMLS:C0854359 E (Exact mapping: the two concepts are equivalent) Autosomal dominant late-onset Parkinson disease LOPD Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). Orphanet ICD-10:G20 OMIM:168601 OMIM:605543 OMIM:607060 OMIM:607688 OMIM:614203 OMIM:614251 OMIM:616361 UMLS:C4274355 Autosomal dominant Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411602 Hereditary late-onset Parkinson disease ORPHA:411602 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:168601 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605543 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607060 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607688 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614203 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614251 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616361 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274355 E (Exact mapping: the two concepts are equivalent) A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome. Orphanet ICD-10:E72.0+ ICD-10:N16.3* ICD-11:5C60.1 MeSH:C565655 OMIM:219800 UMLS:C3537440 Autosomal recessive Infancy Europe AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411629 Infantile nephropathic cystinosis Clinical subtype ORPHA:411629 ICD-10:E72.0+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:N16.3* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565655 E (Exact mapping: the two concepts are equivalent) OMIM:219800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3537440 E (Exact mapping: the two concepts are equivalent) Intermediate cystinosis Juvenile cystinosis A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease. Orphanet ICD-10:E72.0+ ICD-10:N16.3* ICD-11:5C60.1 MeSH:C562683 OMIM:219900 UMLS:C0268626 Autosomal recessive Adolescent Childhood Europe AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411634 Juvenile nephropathic cystinosis Clinical subtype ORPHA:411634 ICD-10:E72.0+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:N16.3* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562683 E (Exact mapping: the two concepts are equivalent) OMIM:219900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268626 E (Exact mapping: the two concepts are equivalent) Adult-onset cystinosis Non-nephropathic cystinosis Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. Orphanet ICD-10:E72.0 MeSH:C535765 OMIM:219750 UMLS:C2931013 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411641 Ocular cystinosis Clinical subtype ORPHA:411641 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535765 E (Exact mapping: the two concepts are equivalent) OMIM:219750 E (Exact mapping: the two concepts are equivalent) UMLS:C2931013 E (Exact mapping: the two concepts are equivalent) PPI-REE PPI-responsive esophageal eosinophilia PPIRee Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy. Orphanet ICD-10:K20 UMLS:C4749332 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411696 Proton-pump inhibitor-responsive esophageal eosinophilia ORPHA:411696 ICD-10:K20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749332 E (Exact mapping: the two concepts are equivalent) Non-tuberculous mycobacterial lung disease A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including <i>Mycobacterium avium</i> complex, <i>Mycobacterium kansasii</i>, or <i>Mycobacterium xenopi</i>, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities. Orphanet ICD-10:A31.0 ICD-11:1B21.0 UMLS:C3472679 Not applicable All ages Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411703 Pulmonary non-tuberculous mycobacterial infection ORPHA:411703 ICD-10:A31.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3472679 E (Exact mapping: the two concepts are equivalent) A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s). Orphanet ICD-10:Q60.0 ICD-10:Q60.1 ICD-10:Q60.2 ICD-11:LB30.00 MedDRA:10064655 OMIM:191830 OMIM:615721 UMLS:C0542519 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411709 Renal agenesis ORPHA:411709 ICD-10:Q60.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q60.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q60.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB30.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10064655 E (Exact mapping: the two concepts are equivalent) OMIM:191830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615721 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0542519 E (Exact mapping: the two concepts are equivalent) Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances. Orphanet ICD-10:P00.4 OMIM:615026 UMLS:C4750953 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411712 Maternal riboflavin deficiency ORPHA:411712 ICD-10:P00.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615026 E (Exact mapping: the two concepts are equivalent) UMLS:C4750953 E (Exact mapping: the two concepts are equivalent) GEKA Generalized eruptive keratoacanthomas of Grzybowski Grzybowski syndrome Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug. Orphanet ICD-10:L85.8 ICD-11:2C31.1 Not applicable Adult Elderly Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411777 Generalized eruptive keratoacanthoma ORPHA:411777 ICD-10:L85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. Orphanet ICD-10:Q84.2 ICD-11:LD27.0Y OMIM:190330 UMLS:C4706941 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411788 Familial isolated trichomegaly ORPHA:411788 ICD-10:Q84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:190330 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4706941 E (Exact mapping: the two concepts are equivalent) 4q21.21 ClinVar:FGF5 Ensembl:ENSG00000138675 Genatlas:FGF5 HGNC:3683 OMIM:165190 Reactome:P12034 SwissProt:P12034 FGF5 fibroblast growth factor 5 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Metabolic syndrome ORPHA:411969 Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. Orphanet ICD-10:G40.4 OMIM:615859 UMLS:C4750952 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615859 E (Exact mapping: the two concepts are equivalent) UMLS:C4750952 E (Exact mapping: the two concepts are equivalent) Broad-beta disease Familial dyslipidemia type 3 HLP type 3 Hyperlipidemia type 3 Hyperlipoproteinemia type 3 Remnant hyperlipoproteinemia A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease. Orphanet ICD-10:E78.2 ICD-11:5C80.2 MeSH:D006952 MedDRA:10060751 OMIM:617347 UMLS:C0020479 Autosomal dominant Multigenic/multifactorial Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_average_value : 7.8 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412 Dysbetalipoproteinemia ORPHA:412 ICD-10:E78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006952 E (Exact mapping: the two concepts are equivalent) MedDRA:10060751 E (Exact mapping: the two concepts are equivalent) OMIM:617347 E (Exact mapping: the two concepts are equivalent) UMLS:C0020479 E (Exact mapping: the two concepts are equivalent) FDLAB syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome Traboulsi syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. Orphanet ICD-10:Q87.0 OMIM:601552 UMLS:C1832167 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome ORPHA:412022 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601552 E (Exact mapping: the two concepts are equivalent) UMLS:C1832167 E (Exact mapping: the two concepts are equivalent) Del(13)(q12.3) Monosomy 13q12.3 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. Orphanet ICD-10:Q93.5 UMLS:C4750951 Unknown Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412035 13q12.3 microdeletion syndrome ORPHA:412035 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4750951 E (Exact mapping: the two concepts are equivalent) SCAR16 Spinocerebellar ataxia autosomal recessive type 16 A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Orphanet ICD-10:G11.1 OMIM:615768 UMLS:C5190574 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615768 E (Exact mapping: the two concepts are equivalent) UMLS:C5190574 E (Exact mapping: the two concepts are equivalent) A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions. Orphanet ICD-10:G31.8 UMLS:C4751505 Autosomal dominant Adult Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments ORPHA:412066 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4751505 E (Exact mapping: the two concepts are equivalent) Xia-Gibbs syndrome A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Orphanet ICD-10:Q87.8 OMIM:615829 UMLS:C4014419 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome ORPHA:412069 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615829 E (Exact mapping: the two concepts are equivalent) UMLS:C4014419 E (Exact mapping: the two concepts are equivalent) DST-related epidermolysis bullosa simplex EBS due to BP230 deficiency A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side. Orphanet ICD-10:Q81.0 ICD-11:EC30 OMIM:615425 UMLS:C4750917 Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412181 Epidermolysis bullosa simplex due to BP230 deficiency ORPHA:412181 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615425 E (Exact mapping: the two concepts are equivalent) UMLS:C4750917 E (Exact mapping: the two concepts are equivalent) EBS due to exophilin 5 deficiency A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. Orphanet ICD-10:Q81.0 OMIM:615028 UMLS:C4750918 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency ORPHA:412189 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615028 E (Exact mapping: the two concepts are equivalent) UMLS:C4750918 E (Exact mapping: the two concepts are equivalent) PFE Primary retention of teeth A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful. Orphanet ICD-10:K00.8 MeSH:C565114 OMIM:125350 UMLS:C1852222 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412206 Primary failure of tooth eruption ORPHA:412206 ICD-10:K00.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565114 E (Exact mapping: the two concepts are equivalent) OMIM:125350 E (Exact mapping: the two concepts are equivalent) UMLS:C1852222 E (Exact mapping: the two concepts are equivalent) Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment. Orphanet ICD-10:G24.8 UMLS:C5190573 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=412217 Dystonia-aphonia syndrome ORPHA:412217 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190573 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Ramsay Hunt syndrome OBSOLETE: Ramsay Hunt syndrome type II ORPHA:412220 2q33.1 Hsh155 PRPF10 Prp10 SAP155 SF3b155 ClinVar:SF3B1 Ensembl:ENSG00000115524 Genatlas:SF3B1 HGNC:10768 OMIM:605590 Reactome:O75533 SwissProt:O75533 SF3B1 splicing factor 3b subunit 1 Xp22.11 SSAT diamine N-acetyltransferase 1 ClinVar:SAT1 Ensembl:ENSG00000130066 Genatlas:SAT1 HGNC:10540 OMIM:313020 Reactome:P21673 SwissProt:P21673 SAT1 spermidine/spermine N1-acetyltransferase 1 4q13.3 enamel matrix protein ClinVar:AMBN Ensembl:ENSG00000178522 Genatlas:AMBN HGNC:452 OMIM:601259 Reactome:Q9NP70 SwissProt:Q9NP70 AMBN ameloblastin 1p36.33 ClinVar:TMEM240 Ensembl:ENSG00000205090 Genatlas:TMEM240 HGNC:25186 OMIM:616101 SwissProt:Q5SV17 TMEM240 transmembrane protein 240 3p21.31 FLJ23184 HIF-1 HYPB KIAA1732 KMT3A ClinVar:SETD2 Ensembl:ENSG00000181555 Genatlas:SETD2 HGNC:18420 IUPHAR:2702 OMIM:612778 Reactome:Q9BYW2 SwissProt:Q9BYW2 SETD2 SET domain containing 2, histone lysine methyltransferase Xp11.22 DT1P1A10 RP1-112K5.2 WGG motif containing 1 WGG1 escortin Ensembl:ENSG00000158526 HGNC:25455 OMIM:300945 Reactome:Q969E8 SwissProt:Q969E8 TSR2 TSR2 ribosome maturation factor 19p13.2 40S ribosomal protein S28 S28 eS28 ClinVar:RPS28 Ensembl:ENSG00000233927 Genatlas:RPS28 HGNC:10418 OMIM:603685 Reactome:P62857 SwissProt:P62857 RPS28 ribosomal protein S28 NON RARE IN EUROPE: Familial hypertriglyceridemia NON RARE IN EUROPE: HLP type 4 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E78.1 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 ORPHA:413 ICD-10:E78.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 1q23.2 CSQ1 PDIB1 calmitine calsequestrin 1, fast-twitch, skeletal muscle ClinVar:CASQ1 Ensembl:ENSG00000143318 Genatlas:CASQ1 HGNC:1512 OMIM:114250 Reactome:P31415 SwissProt:P31415 CASQ1 calsequestrin 1 20q13.33 FLJ23412 VNUT ClinVar:SLC17A9 Ensembl:ENSG00000101194 Genatlas:SLC17A9 HGNC:16192 IUPHAR:1010 OMIM:612107 SwissProt:Q9BYT1 SLC17A9 solute carrier family 17 member 9 3p26.2 ATP(CTP):tRNA nucleotidyltransferase CCA-adding enzyme CCA1 CGI-47 MtCCA ClinVar:TRNT1 Ensembl:ENSG00000072756 Genatlas:TRNT1 HGNC:17341 OMIM:612907 Reactome:Q96Q11 SwissProt:Q96Q11 TRNT1 tRNA nucleotidyl transferase 1 6p21.33 ClinVar:HLA-C Ensembl:ENSG00000204525 Genatlas:HLA-C HGNC:4933 OMIM:142840 Reactome:P04222 Reactome:P10321 SwissProt:P10321 HLA-C major histocompatibility complex, class I, C 10q26.3 CT76 bA108K14.6 cancer/testis antigen 76 ClinVar:SYCE1 Ensembl:ENSG00000171772 Genatlas:SYCE1 HGNC:28852 OMIM:611486 Reactome:Q8N0S2 SwissProt:Q8N0S2 SYCE1 synaptonemal complex central element protein 1 5p12 BCNG-1 HAC-2 ClinVar:HCN1 Ensembl:ENSG00000164588 Genatlas:HCN1 HGNC:4845 IUPHAR:400 OMIM:602780 Reactome:O60741 SwissProt:O60741 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 17p13.1 INDY NACT Na(+)/citrate cotransporter mINDY mammalian INDY homolog (Drosophila) ClinVar:SLC13A5 Ensembl:ENSG00000141485 Genatlas:SLC13A5 HGNC:23089 IUPHAR:981 OMIM:608305 Reactome:Q86YT5 SwissProt:Q86YT5 SLC13A5 solute carrier family 13 member 5 20q13.13 Kv2.1 ClinVar:KCNB1 Ensembl:ENSG00000158445 Genatlas:KCNB1 HGNC:6231 IUPHAR:546 OMIM:600397 Reactome:Q14721 SwissProt:Q14721 KCNB1 potassium voltage-gated channel subfamily B member 1 HOGA Hyperornithinemia Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Ornithine aminotransferase deficiency Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract. Orphanet ICD-10:E72.4 ICD-11:5C50.9 MeSH:D015799 OMIM:258870 UMLS:C0018425 Autosomal recessive Childhood Finland AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=414 Gyrate atrophy of choroid and retina ORPHA:414 ICD-10:E72.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015799 E (Exact mapping: the two concepts are equivalent) OMIM:258870 E (Exact mapping: the two concepts are equivalent) UMLS:C0018425 E (Exact mapping: the two concepts are equivalent) 3p14.1 ClinVar:LMOD3 Ensembl:ENSG00000163380 Genatlas:LMOD3 HGNC:6649 OMIM:616112 SwissProt:Q0VAK6 LMOD3 leiomodin 3 11q12.3 UNQ655 Ensembl:ENSG00000204922 HGNC:34399 OMIM:616097 SwissProt:Q6UW78 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 5q33.1 N-Deacetylase-N-sulfotransferase 1 NST1 [Heparan sulfate]-glucosamine N-sulfotransferase 1 heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1 ClinVar:NDST1 Ensembl:ENSG00000070614 Genatlas:NDST1 HGNC:7680 OMIM:600853 Reactome:P52848 SwissProt:P52848 NDST1 N-deacetylase and N-sulfotransferase 1 Genetic craniofacial cleft UMLS:C5680068 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=414726 Genetic facial cleft Category ORPHA:414726 UMLS:C5680068 E (Exact mapping: the two concepts are equivalent) 8q12.1 S20 uS10 ClinVar:RPS20 Ensembl:ENSG00000008988 Genatlas:RPS20 HGNC:10405 OMIM:603682 Reactome:P60866 SwissProt:P60866 RPS20 ribosomal protein S20 HHH syndrome ORNT1 deficiency Ornithine carrier deficiency Ornithine translocase deficiency Triple H syndrome A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction. Orphanet ICD-10:E72.4 ICD-11:5C50.AY MeSH:C538380 MedDRA:10084220 OMIM:238970 UMLS:C0268540 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 111.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ORPHA:415 ICD-10:E72.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.AY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538380 E (Exact mapping: the two concepts are equivalent) MedDRA:10084220 E (Exact mapping: the two concepts are equivalent) OMIM:238970 E (Exact mapping: the two concepts are equivalent) UMLS:C0268540 E (Exact mapping: the two concepts are equivalent) 1p31.3 KIAA1771 ZIR2 ClinVar:DOCK7 Ensembl:ENSG00000116641 Genatlas:DOCK7 HGNC:19190 OMIM:615730 Reactome:Q96N67 SwissProt:Q96N67 DOCK7 dedicator of cytokinesis 7 13q13.3 CBP-interacting protein 3 CIP3 EAP2 OIP2 Opa interacting protein 2 RRP43 Rrp43p bA421P11.3 p9 ClinVar:EXOSC8 Ensembl:ENSG00000120699 Genatlas:EXOSC8 HGNC:17035 OMIM:606019 Reactome:Q96B26 SwissProt:Q96B26 EXOSC8 exosome component 8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adenocarcinoma of the lung ORPHA:415268 Kernicterus ICD-10:P57 MeSH:D007647 MedDRA:10023376 UMLS:C0022610 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=415286 Bilirubin encephalopathy Clinical group ORPHA:415286 ICD-10:P57 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007647 E (Exact mapping: the two concepts are equivalent) MedDRA:10023376 E (Exact mapping: the two concepts are equivalent) UMLS:C0022610 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: NAION This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy ORPHA:415300 OBSOLETE: Variola This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Human infection by orthopoxvirus OBSOLETE: Small pox ORPHA:415675 NON RARE IN EUROPE: SIDS This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Sudden infant death syndrome ORPHA:415687 A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects. Orphanet ICD-10:E74.8 MeSH:D006960 MedDRA:10020703 OMIM:259900 OMIM:260000 OMIM:613616 UMLS:C0020501 Autosomal recessive All ages Germany AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=416 Primary hyperoxaluria ORPHA:416 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). MeSH:D006960 E (Exact mapping: the two concepts are equivalent) MedDRA:10020703 E (Exact mapping: the two concepts are equivalent) OMIM:259900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:260000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613616 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020501 E (Exact mapping: the two concepts are equivalent) NSHPT Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. Orphanet ICD-10:E21.0 ICD-11:5A51.0 MeSH:C563375 OMIM:239200 OMIM:618188 UMLS:C1832615 Autosomal recessive Not applicable Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=417 Neonatal severe primary hyperparathyroidism ORPHA:417 ICD-10:E21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563375 E (Exact mapping: the two concepts are equivalent) OMIM:239200 E (Exact mapping: the two concepts are equivalent) OMIM:618188 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1832615 E (Exact mapping: the two concepts are equivalent) BCD Bietti crystalline corneoretinal dystrophy Bietti crystalline retinopathy A rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness. Orphanet ICD-10:H35.5 ICD-11:9B61 MeSH:C535440 OMIM:210370 UMLS:C1859486 Autosomal recessive Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=41751 Bietti crystalline dystrophy ORPHA:41751 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535440 E (Exact mapping: the two concepts are equivalent) OMIM:210370 E (Exact mapping: the two concepts are equivalent) UMLS:C1859486 E (Exact mapping: the two concepts are equivalent) CAH A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity. Orphanet ICD-10:E25.0 ICD-11:5A71.01 MeSH:D000312 MedDRA:10010323 OMIM:201710 OMIM:201810 OMIM:201910 OMIM:202010 OMIM:202110 OMIM:613571 UMLS:C0001627 Autosomal recessive Belgium AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 1.36 AND has_point_prevalence_range : 1-9 / 100 000 Cuba AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 7.98 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 13.35 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 12.8 AND has_birth_prevalence_range : 1-5 / 10 000 India AND has_birth_prevalence_average_value : 38.8 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 6.65 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 5.35 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 7.65 AND has_birth_prevalence_range : 1-9 / 100 000 New Zealand AND has_birth_prevalence_average_value : 6.9 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 9.3 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.6 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=418 Congenital adrenal hyperplasia Clinical group ORPHA:418 ICD-10:E25.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A71.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000312 E (Exact mapping: the two concepts are equivalent) MedDRA:10010323 E (Exact mapping: the two concepts are equivalent) OMIM:201710 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:201810 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:201910 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:202010 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:202110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613571 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0001627 E (Exact mapping: the two concepts are equivalent) 5q31.3 PUR-ALPHA PUR1 PURALPHA ClinVar:PURA Ensembl:ENSG00000185129 Genatlas:PURA HGNC:9701 OMIM:600473 Reactome:Q00577 SwissProt:Q00577 PURA purine rich element binding protein A 6q14.3 RGS-PX2 ClinVar:SNX14 Ensembl:ENSG00000135317 Genatlas:SNX14 HGNC:14977 OMIM:616105 SwissProt:Q9Y5W7 SNX14 sorting nexin 14 2q14.1 FLJ40629 radial fiber and mitotic spindle radmis ClinVar:CKAP2L Ensembl:ENSG00000169607 Genatlas:CKAP2L HGNC:26877 OMIM:616174 SwissProt:Q8IYA6 CKAP2L cytoskeleton associated protein 2 like This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:M79.7 NON RARE IN EUROPE: Fibromyalgia ORPHA:41842 ICD-10:M79.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Esophageal carcinoma, salivary gland type A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct&#8208;lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss. Orphanet ICD-10:C15.0 ICD-10:C15.1 ICD-10:C15.2 ICD-10:C15.3 ICD-10:C15.4 ICD-10:C15.5 ICD-10:C15.8 UMLS:C5190854 Not applicable Adult Elderly Austria AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=418945 Carcinoma of esophagus, salivary gland type ORPHA:418945 ICD-10:C15.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190854 E (Exact mapping: the two concepts are equivalent) Undifferentiated esophageal carcinoma A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated. Orphanet ICD-10:C15.0 ICD-10:C15.1 ICD-10:C15.2 ICD-10:C15.3 ICD-10:C15.4 ICD-10:C15.5 ICD-10:C15.8 UMLS:C2188058 Not applicable Adult Elderly Austria AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.115 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.085 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.101 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.082 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=418951 Undifferentiated carcinoma of esophagus ORPHA:418951 ICD-10:C15.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2188058 E (Exact mapping: the two concepts are equivalent) Gastric squamous cell carcinoma A rare epithelial tumour of stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss. Orphanet ICD-10:C16.0 ICD-10:C16.1 ICD-10:C16.2 ICD-10:C16.3 ICD-10:C16.4 ICD-10:C16.5 ICD-10:C16.8 UMLS:C1333789 Not applicable Adult Elderly Austria AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.176 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.115 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.079 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.207 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.401 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.137 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.115 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=418959 Squamous cell carcinoma of the stomach ORPHA:418959 ICD-10:C16.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1333789 E (Exact mapping: the two concepts are equivalent) Proline oxidase deficiency A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity). Orphanet ICD-10:E72.5 ICD-11:5C50.8 MedDRA:10058513 OMIM:239500 UMLS:C0268529 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=419 Hyperprolinemia type 1 ORPHA:419 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10058513 E (Exact mapping: the two concepts are equivalent) OMIM:239500 E (Exact mapping: the two concepts are equivalent) UMLS:C0268529 E (Exact mapping: the two concepts are equivalent) 4q24 KIF10 PPP1R61 protein phosphatase 1, regulatory subunit 61 ClinVar:CENPE Ensembl:ENSG00000138778 Genatlas:CENPE HGNC:1856 OMIM:117143 Reactome:Q02224 SwissProt:Q02224 CENPE centromere protein E 18q23 DIB1 DIM1 HsT161 SNRNP15 U5-15kD similar to S. pombe dim1+ ClinVar:TXNL4A Ensembl:ENSG00000141759 Genatlas:TXNL4A HGNC:30551 OMIM:611595 Reactome:P83876 SwissProt:P83876 TXNL4A thioredoxin like 4A 16p11.2 ClinVar:STX1B Ensembl:ENSG00000099365 Genatlas:STX1B HGNC:18539 OMIM:601485 Reactome:P61266 SwissProt:P61266 STX1B syntaxin 1B 13q32.1 SDR2E1 TDPGD short chain dehydrogenase/reductase family 2E, member 1 ClinVar:TGDS Ensembl:ENSG00000088451 Genatlas:TGDS HGNC:20324 OMIM:616146 SwissProt:O95455 TGDS TDP-glucose 4,6-dehydratase 1p21.2 DKFZp761A078 FLJ22097 SAS-6 SAS6 ClinVar:SASS6 Ensembl:ENSG00000156876 Genatlas:SASS6 HGNC:25403 OMIM:609321 Reactome:Q6UVJ0 SwissProt:Q6UVJ0 SASS6 SAS-6 centriolar assembly protein 1p13.1 EWI-3 MGC117164 V8 ClinVar:IGSF3 Ensembl:ENSG00000143061 Genatlas:IGSF3 HGNC:5950 OMIM:603491 SwissProt:O75054 IGSF3 immunoglobulin superfamily member 3 16q22.1 POT1 and TIN2 organizing protein Pip1 Ptop TIN2 interacting protein 1 Tint1 Tpp1 ClinVar:ACD Ensembl:ENSG00000102977 Genatlas:ACD HGNC:25070 OMIM:609377 Reactome:Q96AP0 SwissProt:Q96AP0 ACD ACD shelterin complex subunit and telomerase recruitment factor 1p36.11 ASK2 MAPKKK6 MEKK6 apoptosis signal regulating kinase 2 ClinVar:MAP3K6 Ensembl:ENSG00000142733 Genatlas:MAP3K6 HGNC:6858 IUPHAR:2081 OMIM:604468 Reactome:O95382 SwissProt:O95382 MAP3K6 mitogen-activated protein kinase kinase kinase 6 ACADM deficiency Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency MCAD deficiency MCADD Medium chain acyl-coenzyme A dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. Orphanet ICD-10:E71.3 ICD-11:5C52.01 MeSH:C536038 MedDRA:10072654 OMIM:201450 UMLS:C0220710 Autosomal recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 5.26 AND has_birth_prevalence_range : 1-9 / 100 000 Austria AND has_birth_prevalence_average_value : 4.02 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 11.1 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 16.1 AND has_birth_prevalence_range : 1-5 / 10 000 Greece AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 4.35 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 1.96 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 11.49 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 8.5 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 7.25 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 5.85 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 6.85 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=42 Medium chain acyl-CoA dehydrogenase deficiency ORPHA:42 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536038 E (Exact mapping: the two concepts are equivalent) MedDRA:10072654 E (Exact mapping: the two concepts are equivalent) OMIM:201450 E (Exact mapping: the two concepts are equivalent) UMLS:C0220710 E (Exact mapping: the two concepts are equivalent) 15q25.2 FLJ14888 HSPC264 ClinVar:WDR73 Ensembl:ENSG00000177082 Genatlas:WDR73 HGNC:25928 OMIM:616144 SwissProt:Q6P4I2 WDR73 WD repeat domain 73 1q43 ClinVar:FMN2 Ensembl:ENSG00000155816 Genatlas:FMN2 HGNC:14074 OMIM:606373 SwissProt:Q9NZ56 FMN2 formin 2 Sotos syndrome 2 A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:614753 UMLS:C3553660 Autosomal dominant Unknown Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420179 Malan overgrowth syndrome ORPHA:420179 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614753 E (Exact mapping: the two concepts are equivalent) UMLS:C3553660 E (Exact mapping: the two concepts are equivalent) Secondary PAP A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation. Orphanet ICD-10:J84.0 ICD-11:CB04.31 UMLS:C3873302 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420259 Secondary pulmonary alveolar proteinosis ORPHA:420259 ICD-10:J84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3873302 E (Exact mapping: the two concepts are equivalent) SCD syndrome A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. Orphanet ICD-10:H83.8 MeSH:D000084322 UMLS:C4708600 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420402 Semicircular canal dehiscence syndrome ORPHA:420402 ICD-10:H83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D000084322 E (Exact mapping: the two concepts are equivalent) UMLS:C4708600 E (Exact mapping: the two concepts are equivalent) Xq26.3 ClinVar:GPR101 Ensembl:ENSG00000165370 Genatlas:GPR101 HGNC:14963 IUPHAR:125 OMIM:300393 SwissProt:Q96P66 GPR101 G protein-coupled receptor 101 Alpha-1,4-glucosidase acid deficiency, late-onset GSD due to acid maltase deficiency, late-onset GSD type 2, late-onset GSD type II, late-onset Glycogen storage disease type 2, late-onset Glycogen storage disease type II, late-onset Glycogenosis type 2, late-onset Glycogenosis type II, late-onset Pompe disease, late-onset A rare form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle, leading to slowly progressive muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year, as well as all cases with symptom onset above the age of 1 year. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:232300 UMLS:C3888925 Autosomal recessive Adolescent Adult Worldwide AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420429 Glycogen storage disease due to acid maltase deficiency, late-onset Clinical subtype ORPHA:420429 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:232300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3888925 E (Exact mapping: the two concepts are equivalent) 12p13.31 MAGP2 MP25 microfibril-associated glycoprotein-2 ClinVar:MFAP5 Ensembl:ENSG00000197614 Genatlas:MFAP5 HGNC:29673 OMIM:601103 Reactome:Q13361 SwissProt:Q13361 MFAP5 microfibril associated protein 5 DYT24 Dystonia 24 Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Orphanet ICD-10:G24.8 OMIM:615034 UMLS:C3554374 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement ORPHA:420485 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615034 E (Exact mapping: the two concepts are equivalent) UMLS:C3554374 E (Exact mapping: the two concepts are equivalent) DYT23 Dystonia 23 A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor. Orphanet ICD-10:G24.8 OMIM:614860 UMLS:C3538999 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420492 Adult-onset cervical dystonia, DYT23 type ORPHA:420492 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614860 E (Exact mapping: the two concepts are equivalent) UMLS:C3538999 E (Exact mapping: the two concepts are equivalent) Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms. Orphanet ICD-10:H53.8 MeSH:C000726567 MedDRA:10079450 UMLS:C4324662 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420556 Visual snow syndrome ORPHA:420556 ICD-10:H53.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000726567 E (Exact mapping: the two concepts are equivalent) MedDRA:10079450 E (Exact mapping: the two concepts are equivalent) UMLS:C4324662 E (Exact mapping: the two concepts are equivalent) Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome TMBTS A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. Orphanet ICD-10:Q87.2 MeSH:C567516 OMIM:611816 UMLS:C2678486 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420561 Temple-Baraitser syndrome ORPHA:420561 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567516 E (Exact mapping: the two concepts are equivalent) OMIM:611816 E (Exact mapping: the two concepts are equivalent) UMLS:C2678486 E (Exact mapping: the two concepts are equivalent) Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. Orphanet ICD-10:D69.1 OMIM:615888 UMLS:C4510815 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420566 Bleeding disorder due to CalDAG-GEFI deficiency ORPHA:420566 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615888 E (Exact mapping: the two concepts are equivalent) UMLS:C4510815 E (Exact mapping: the two concepts are equivalent) SCID due to CTPS1 deficiency A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. Orphanet ICD-10:D81.2 OMIM:615897 UMLS:C4706524 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420573 Severe combined immunodeficiency due to CTPS1 deficiency ORPHA:420573 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615897 E (Exact mapping: the two concepts are equivalent) UMLS:C4706524 E (Exact mapping: the two concepts are equivalent) Culler-Jones syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. Orphanet ICD-10:Q87.8 OMIM:615849 UMLS:C4014479 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 112.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615849 E (Exact mapping: the two concepts are equivalent) UMLS:C4014479 E (Exact mapping: the two concepts are equivalent) TMD Transient abnormal myelopoiesis Transient myeloproliferative disease A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications. Orphanet ICD-10:D47.7 ICD-11:2A60.40 MeSH:C563551 OMIM:159595 UMLS:C1834582 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420611 Transient myeloproliferative syndrome ORPHA:420611 ICD-10:D47.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C563551 E (Exact mapping: the two concepts are equivalent) OMIM:159595 E (Exact mapping: the two concepts are equivalent) UMLS:C1834582 E (Exact mapping: the two concepts are equivalent) A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive. Orphanet ICD-10:E72.0 ICD-11:5C60.Y MeSH:C536285 OMIM:242600 UMLS:C0268654 Autosomal recessive All ages Europe AND has_birth_prevalence_average_value : 6.67 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 6.68 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=42062 Iminoglycinuria ORPHA:42062 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536285 E (Exact mapping: the two concepts are equivalent) OMIM:242600 E (Exact mapping: the two concepts are equivalent) UMLS:C0268654 E (Exact mapping: the two concepts are equivalent) KWWH type IV Keratoderma with woolly hair type IV Woolly hair-palmoplantar hyperkeratosis syndrome Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. Orphanet ICD-10:Q82.8 OMIM:616099 UMLS:C4706686 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420686 Woolly hair-palmoplantar keratoderma syndrome ORPHA:420686 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616099 E (Exact mapping: the two concepts are equivalent) UMLS:C4706686 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in <i>CXCR2</i>. Orphanet ICD-10:D70 OMIM:619407 UMLS:C5190862 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency ORPHA:420699 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619407 E (Exact mapping: the two concepts are equivalent) UMLS:C5190862 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the <i>CSF3R</i> gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated. Orphanet ICD-10:D70 OMIM:617014 UMLS:C5190863 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency ORPHA:420702 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617014 E (Exact mapping: the two concepts are equivalent) UMLS:C5190863 E (Exact mapping: the two concepts are equivalent) COXPD20 A rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I). Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:615917 UMLS:C4014660 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420728 Combined oxidative phosphorylation defect type 20 ORPHA:420728 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615917 E (Exact mapping: the two concepts are equivalent) UMLS:C4014660 E (Exact mapping: the two concepts are equivalent) COXPD21 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:615918 UMLS:C4706316 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420733 Combined oxidative phosphorylation defect type 21 ORPHA:420733 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615918 E (Exact mapping: the two concepts are equivalent) UMLS:C4706316 E (Exact mapping: the two concepts are equivalent) RNF168 deficiency Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE). Orphanet ICD-10:D82.8 MeSH:C567453 OMIM:611943 UMLS:C2677792 Autosomal recessive Adolescent Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420741 RIDDLE syndrome ORPHA:420741 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567453 E (Exact mapping: the two concepts are equivalent) OMIM:611943 E (Exact mapping: the two concepts are equivalent) UMLS:C2677792 E (Exact mapping: the two concepts are equivalent) UMLS:C5681204 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420755 Rare genetic odontal or periodontal disorder Category ORPHA:420755 UMLS:C5681204 E (Exact mapping: the two concepts are equivalent) Anti-IgLON5 disease Anti-IgLON5 syndrome A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. Orphanet ICD-10:G04.8 UMLS:C4707562 Not applicable Adult Elderly Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea ORPHA:420789 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707562 E (Exact mapping: the two concepts are equivalent) Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. Orphanet ICD-10:Q77.7 UMLS:C4707860 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=420794 Cono-spondylar dysplasia ORPHA:420794 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707860 E (Exact mapping: the two concepts are equivalent) 19p13.2 LonHS Mitochondrial ATP-dependent protease Lon PIM1 hLON ClinVar:LONP1 Ensembl:ENSG00000196365 Genatlas:LONP1 HGNC:9479 IUPHAR:3180 OMIM:605490 SwissProt:P36776 LONP1 lon peptidase 1, mitochondrial Idiopathic and/or familial pulmonary arterial hypertension A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic. Orphanet ICD-10:I27.0 ICD-11:BB01.0 OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344 UMLS:C5679820 Autosomal dominant Autosomal recessive Not applicable All ages China AND has_point_prevalence_average_value : 6.25 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=422 Idiopathic/heritable pulmonary arterial hypertension ORPHA:422 ICD-10:I27.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:BB01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:178600 E (Exact mapping: the two concepts are equivalent) OMIM:265400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615342 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615343 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615344 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679820 E (Exact mapping: the two concepts are equivalent) Xp22.12 eIF-1A eIF-4C ClinVar:EIF1AX Ensembl:ENSG00000173674 Genatlas:EIF1AX HGNC:3250 OMIM:300186 Reactome:P47813 SwissProt:P47813 EIF1AX eukaryotic translation initiation factor 1A X-linked 9q33.3 FLJ16786 FLJ38464 ClinVar:CRB2 Ensembl:ENSG00000148204 Genatlas:CRB2 HGNC:18688 OMIM:609720 SwissProt:Q5IJ48 CRB2 crumbs cell polarity complex component 2 2p21 CAMII PHKD PHKD2 phosphorylase kinase subunit delta phosphorylase kinase subunit delta 2 prepro-calmodulin 2 ClinVar:CALM2 Ensembl:ENSG00000143933 Genatlas:CALM2 HGNC:1445 OMIM:114182 SwissProt:P0DP24 CALM2 calmodulin 2 4q28.1 Sak ClinVar:PLK4 Ensembl:ENSG00000142731 Genatlas:PLK4 HGNC:11397 IUPHAR:2171 OMIM:605031 Reactome:O00444 SwissProt:O00444 PLK4 polo like kinase 4 20q13.33 DFNA67 KIAA0772 ORP-2 ClinVar:OSBPL2 Ensembl:ENSG00000130703 Genatlas:OSBPL2 HGNC:15761 OMIM:606731 Reactome:Q9H1P3 SwissProt:Q9H1P3 OSBPL2 oxysterol binding protein like 2 1q42.2 ClinVar:C1orf31 Ensembl:ENSG00000168275 Genatlas:C1orf31 HGNC:18025 OMIM:614772 Reactome:Q5JTJ3 SwissProt:Q5JTJ3 COA6 cytochrome c oxidase assembly factor 6 OBSOLETE: PHGDH deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency ORPHA:422519 Hereditary clear cell renal cell adenocarcinoma Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome. Orphanet ICD-10:C64 OMIM:144700 UMLS:C1333985 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=422526 Hereditary clear cell renal cell carcinoma ORPHA:422526 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:144700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1333985 E (Exact mapping: the two concepts are equivalent) 4q25 ClinVar:COL25A1 Ensembl:ENSG00000188517 Genatlas:COL25A1 HGNC:18603 OMIM:610004 Reactome:Q9BXS0 SwissProt:Q9BXS0 COL25A1 collagen type XXV alpha 1 chain 9p21.1 Antiviral innate immune response receptor RIG-I DKFZp434J1111 FLJ13599 RIG-1 RIG-I RIG1 RNA helicase RIG-I retinoic acid inducible gene I ClinVar:DDX58 Ensembl:ENSG00000107201 Genatlas:DDX58 HGNC:19102 IUPHAR:2920 OMIM:609631 Reactome:O95786 SwissProt:O95786 RIGI RNA sensor RIG-I 5q23.2 FLJ36090 ClinVar:CEP120 Ensembl:ENSG00000168944 Genatlas:CEP120 HGNC:26690 OMIM:613446 SwissProt:Q8N960 CEP120 centrosomal protein 120 8q12.3 BAH CASQ2BP1 HAAH JCTN humbug junctate junctin ClinVar:ASPH Ensembl:ENSG00000198363 Genatlas:ASPH HGNC:757 OMIM:600582 Reactome:Q12797 SwissProt:Q12797 ASPH aspartate beta-hydroxylase 11p15.5 NUDR SPN ZMYND5 ClinVar:DEAF1 Ensembl:ENSG00000177030 Genatlas:DEAF1 HGNC:14677 OMIM:602635 Reactome:O75398 SwissProt:O75398 DEAF1 DEAF1 transcription factor 11q12.1 ATP/GTPbinding protein HEAB hClp1 polyribonucleotide 5'-hydroxyl-kinase ClinVar:CLP1 Ensembl:ENSG00000172409 Genatlas:CLP1 HGNC:16999 OMIM:608757 Reactome:Q92989 SwissProt:Q92989 CLP1 cleavage factor polyribonucleotide kinase subunit 1 Hyperthermia of anesthesia Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. Orphanet ICD-10:T88.3 ICD-11:8C78 MeSH:D008305 MedDRA:10020844 OMIM:145600 OMIM:154275 OMIM:154276 OMIM:600467 OMIM:601887 OMIM:601888 UMLS:C0024591 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423 Malignant hyperthermia of anesthesia ORPHA:423 ICD-10:T88.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C78 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008305 E (Exact mapping: the two concepts are equivalent) MedDRA:10020844 E (Exact mapping: the two concepts are equivalent) OMIM:145600 E (Exact mapping: the two concepts are equivalent) OMIM:154275 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:154276 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600467 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601888 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024591 E (Exact mapping: the two concepts are equivalent) 7p22.3 ClinVar:PRKAR1B Ensembl:ENSG00000188191 Genatlas:PRKAR1B HGNC:9390 IUPHAR:1473 OMIM:176911 Reactome:P31321 SwissProt:P31321 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta 1p36.11-p35.3 DJ159A19.3 RP1-159A19.1 ClinVar:AHDC1 Ensembl:ENSG00000126705 Genatlas:AHDC1 HGNC:25230 OMIM:615790 Reactome:Q5TGY3 SwissProt:Q5TGY3 AHDC1 AT-hook DNA binding motif containing 1 11q22.3 SLAC2-B synaptotagmin-like homologue lacking C2 domains b ClinVar:EXPH5 Ensembl:ENSG00000110723 Genatlas:EXPH5 HGNC:30578 OMIM:612878 SwissProt:Q8NEV8 EXPH5 exophilin 5 SCA40 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:616053 UMLS:C4518336 Autosomal dominant Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423275 Spinocerebellar ataxia type 40 ORPHA:423275 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616053 E (Exact mapping: the two concepts are equivalent) UMLS:C4518336 E (Exact mapping: the two concepts are equivalent) SCA38 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:615957 UMLS:C4518337 Autosomal dominant Adult Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423296 Spinocerebellar ataxia type 38 ORPHA:423296 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615957 E (Exact mapping: the two concepts are equivalent) UMLS:C4518337 E (Exact mapping: the two concepts are equivalent) Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. Orphanet ICD-10:Q87.1 UMLS:C4749647 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome ORPHA:423306 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749647 E (Exact mapping: the two concepts are equivalent) SCN due to JAGN1 deficiency Severe congenital neutropenia due to jagunal homolog 1 deficiency Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated. Orphanet ICD-10:D70 ICD-11:4B00.00 OMIM:616022 UMLS:C5190861 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423384 Severe congenital neutropenia due to JAGN1 deficiency ORPHA:423384 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616022 E (Exact mapping: the two concepts are equivalent) UMLS:C5190861 E (Exact mapping: the two concepts are equivalent) 1p13.3 NTT4 Sodium-dependent neutral amino acid transporter SLC6A17 neurotransmitter transporter 4 ClinVar:SLC6A17 Ensembl:ENSG00000197106 Genatlas:SLC6A17 HGNC:31399 IUPHAR:943 OMIM:610299 SwissProt:Q9H1V8 SLC6A17 solute carrier family 6 member 17 Ectodermal dysplasia-short stature syndrome Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. Orphanet ICD-10:Q82.8 OMIM:616029 UMLS:C4014987 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ORPHA:423454 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616029 E (Exact mapping: the two concepts are equivalent) UMLS:C4014987 E (Exact mapping: the two concepts are equivalent) ML 3 alpha/beta ML III alpha/beta Mucolipidosis type 3 alpha/beta Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. Orphanet ICD-10:E77.0 ICD-11:5C56.20 OMIM:252600 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423461 Mucolipidosis type III alpha/beta Clinical subtype ORPHA:423461 ICD-10:E77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:252600 E (Exact mapping: the two concepts are equivalent) ML 3 gamma ML III gamma Mucolipidosis type 3 gamma Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. Orphanet ICD-10:E77.0 ICD-11:5C56.20 OMIM:252605 UMLS:C1854896 Autosomal recessive Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423470 Mucolipidosis type III gamma Clinical subtype ORPHA:423470 ICD-10:E77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:252605 E (Exact mapping: the two concepts are equivalent) UMLS:C1854896 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal &#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. Orphanet ICD-10:E79.8 ICD-11:LD90 UMLS:C4517296 X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4517296 E (Exact mapping: the two concepts are equivalent) UMLS:C5681206 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423655 ARX-related encephalopathy-brain malformation spectrum Clinical group ORPHA:423655 UMLS:C5681206 E (Exact mapping: the two concepts are equivalent) UMLS:C5681205 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423662 Rare autonomic nervous system disorder Category ORPHA:423662 UMLS:C5681205 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cortisol-producing adrenal tumor ORPHA:423668 DORV with subaortic or doubly committed VSD ICD-10:Q20.1 ICD-11:LA85.22 UMLS:C5680070 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Clinical subtype ORPHA:423693 ICD-10:Q20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA85.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680070 E (Exact mapping: the two concepts are equivalent) DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy ICD-10:Q24.8 UMLS:C5680071 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Clinical subtype ORPHA:423712 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680071 E (Exact mapping: the two concepts are equivalent) Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. Orphanet ICD-10:B76.9 ICD-11:1F68.2 MedDRA:10059547 UMLS:C0546999 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423717 Cutaneous larva migrans ORPHA:423717 ICD-10:B76.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1F68.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10059547 E (Exact mapping: the two concepts are equivalent) UMLS:C0546999 E (Exact mapping: the two concepts are equivalent) Rare gastric carcinoma UMLS:C5680069 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423771 Rare carcinoma of stomach Category ORPHA:423771 UMLS:C5680069 E (Exact mapping: the two concepts are equivalent) Hereditary cancer of stomach Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms). Orphanet UMLS:C5680075 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423776 Hereditary gastric cancer Category ORPHA:423776 UMLS:C5680075 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Gastric carcinoma, salivary gland type This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Carcinoma of esophagus, salivary gland type OBSOLETE: Carcinoma of stomach, salivary gland type ORPHA:423781 Undifferentiated gastric carcinoma Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. Orphanet ICD-10:C16.0 ICD-10:C16.1 ICD-10:C16.2 ICD-10:C16.3 ICD-10:C16.4 ICD-10:C16.5 ICD-10:C16.6 ICD-10:C16.8 UMLS:C1336858 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.086 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.764 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.068 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.328 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 2.743 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.211 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.221 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.085 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.399 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 2.571 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 0.877 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.251 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.386 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.456 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423786 Undifferentiated carcinoma of stomach ORPHA:423786 ICD-10:C16.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C16.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1336858 E (Exact mapping: the two concepts are equivalent) Rare tumor of small bowel UMLS:C5680076 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423793 Rare tumor of small intestine Category ORPHA:423793 UMLS:C5680076 E (Exact mapping: the two concepts are equivalent) Mesenchymal tumor of small bowel UMLS:C5680077 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423798 Mesenchymal tumor of small intestine Category ORPHA:423798 UMLS:C5680077 E (Exact mapping: the two concepts are equivalent) Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. Orphanet ICD-10:G60.0 UMLS:C4706585 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome ORPHA:423894 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706585 E (Exact mapping: the two concepts are equivalent) Rare carcinoma of small bowel UMLS:C5680078 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423957 Rare carcinoma of small intestine Category ORPHA:423957 UMLS:C5680078 E (Exact mapping: the two concepts are equivalent) Squamous cell carcinoma of the small bowel Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases. Orphanet ICD-10:C17.0 ICD-10:C17.1 ICD-10:C17.2 ICD-10:C17.3 ICD-10:C17.8 UMLS:C4707899 Not applicable Adult Elderly Austria AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423968 Squamous cell carcinoma of the small intestine ORPHA:423968 ICD-10:C17.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707899 E (Exact mapping: the two concepts are equivalent) NET of the small intestine Neuroendocrine neoplasm of the small intestine Neuroendocrine tumor of small bowel MedDRA:10085940 UMLS:C1336005 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423975 Neuroendocrine tumor of the small intestine Category ORPHA:423975 MedDRA:10085940 E (Exact mapping: the two concepts are equivalent) UMLS:C1336005 E (Exact mapping: the two concepts are equivalent) Appendiceal epithelial tumor UMLS:C5680073 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423982 Epithelial tumor of the appendix Category ORPHA:423982 UMLS:C5680073 E (Exact mapping: the two concepts are equivalent) UMLS:C5681208 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423991 Rare epithelial tumor of colon Category ORPHA:423991 UMLS:C5681208 E (Exact mapping: the two concepts are equivalent) A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported. Orphanet ICD-10:C18.0 ICD-10:C18.2 ICD-10:C18.3 ICD-10:C18.4 ICD-10:C18.5 ICD-10:C18.6 ICD-10:C18.7 ICD-10:C18.8 ICD-10:C18.9 UMLS:C1333100 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423994 Squamous cell carcinoma of the colon ORPHA:423994 ICD-10:C18.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1333100 E (Exact mapping: the two concepts are equivalent) Rare rectal epithelial tumor UMLS:C5680074 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=423998 Rare epithelial tumor of rectum Category ORPHA:423998 UMLS:C5680074 E (Exact mapping: the two concepts are equivalent) Familial non-immune hyperthyroidism Resistance to thyroid stimulating hormone A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. Orphanet ICD-10:E05.8 ICD-11:5A02.Y OMIM:609152 UMLS:C4274306 Autosomal dominant All ages Worldwide AND has_cases/families_value : 28.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424 Familial hyperthyroidism due to mutations in TSH receptor ORPHA:424 ICD-10:E05.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609152 E (Exact mapping: the two concepts are equivalent) UMLS:C4274306 E (Exact mapping: the two concepts are equivalent) Rectal squamous cell carcinoma A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits. Orphanet ICD-10:C20 UMLS:C1335690 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.126 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.088 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.157 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.113 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.083 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.096 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.149 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.346 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.116 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.119 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.084 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.143 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424002 Squamous cell carcinoma of the rectum ORPHA:424002 ICD-10:C20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1335690 E (Exact mapping: the two concepts are equivalent) UMLS:C5681209 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424010 Epithelial tumor of anal canal Category ORPHA:424010 UMLS:C5681209 E (Exact mapping: the two concepts are equivalent) MeSH:C563020 UMLS:C0563211 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424013 Carcinoma of the anal canal Clinical group ORPHA:424013 MeSH:C563020 E (Exact mapping: the two concepts are equivalent) UMLS:C0563211 E (Exact mapping: the two concepts are equivalent) A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread. Orphanet ICD-10:C21.1 ICD-11:2C00.0 UMLS:C1332259 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.238 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.226 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.485 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.269 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.253 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.105 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.256 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.299 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.499 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.287 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.215 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.144 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.217 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.406 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.382 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.343 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424016 Adenocarcinoma of the anal canal ORPHA:424016 ICD-10:C21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1332259 E (Exact mapping: the two concepts are equivalent) Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported. Orphanet ICD-10:C21.1 ICD-11:2C00.3 UMLS:C4301960 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.923 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.707 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.268 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.251 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.568 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.81 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 1.096 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 1.307 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 0.809 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.416 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.872 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.238 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.153 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.621 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 1.071 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.411 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.603 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.194 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.331 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 1.712 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 1.038 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424019 Squamous cell carcinoma of the anal canal ORPHA:424019 ICD-10:C21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C00.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4301960 E (Exact mapping: the two concepts are equivalent) EPM8 PME type 8 Progressive myoclonic epilepsy due to CERS1 deficiency Progressive myoclonus epilepsy type 8 A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. Orphanet ICD-10:G40.3 OMIM:616230 UMLS:C5190825 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424027 Progressive myoclonic epilepsy type 8 ORPHA:424027 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616230 E (Exact mapping: the two concepts are equivalent) UMLS:C5190825 E (Exact mapping: the two concepts are equivalent) Rare pancreatic epithelial tumor UMLS:C5680072 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424033 Rare epithelial tumor of pancreas Category ORPHA:424033 UMLS:C5680072 E (Exact mapping: the two concepts are equivalent) Pancreatic squamous cell carcinoma A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice. Orphanet ICD-10:C25.0 ICD-10:C25.1 ICD-10:C25.2 ICD-10:C25.7 ICD-10:C25.8 UMLS:C2675993 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.058 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424039 Squamous cell carcinoma of pancreas ORPHA:424039 ICD-10:C25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2675993 E (Exact mapping: the two concepts are equivalent) Pancreatic acinar cell carcinoma A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported. Orphanet ICD-10:C25.0 ICD-10:C25.1 ICD-10:C25.2 ICD-10:C25.7 ICD-10:C25.8 ICD-11:2C10.0 MedDRA:10073363 UMLS:C0279661 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.049 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.083 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.058 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424046 Acinar cell carcinoma of pancreas ORPHA:424046 ICD-10:C25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073363 E (Exact mapping: the two concepts are equivalent) UMLS:C0279661 E (Exact mapping: the two concepts are equivalent) Pancreatic mucinous cystadenocarcinoma A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus. Orphanet ICD-10:C25.0 ICD-10:C25.1 ICD-10:C25.2 ICD-10:C25.7 ICD-10:C25.8 UMLS:C2063873 Not applicable Adult Belgium AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown Finland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424053 Mucinous cystadenocarcinoma of the pancreas ORPHA:424053 ICD-10:C25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2063873 E (Exact mapping: the two concepts are equivalent) IPMN Pancreatic intraductal papillary mucinous carcinoma Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis. Orphanet ICD-10:C25.3 ICD-11:2C10.0 MedDRA:10073365 UMLS:C1335304 Not applicable Adult Belgium AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424058 Intraductal papillary mucinous carcinoma of pancreas ORPHA:424058 ICD-10:C25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073365 E (Exact mapping: the two concepts are equivalent) UMLS:C1335304 E (Exact mapping: the two concepts are equivalent) Pancreatic solid pseudopapillary carcinoma Solid pseudopapillary neoplasm of the pancreas A rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally. Orphanet ICD-10:C25.0 ICD-10:C25.1 ICD-10:C25.2 ICD-10:C25.7 ICD-10:C25.8 ICD-11:2C10.0 UMLS:C1336029 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424065 Solid pseudopapillary carcinoma of pancreas ORPHA:424065 ICD-10:C25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1336029 E (Exact mapping: the two concepts are equivalent) Pancreatic serous cystadenocarcinoma A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss. Orphanet ICD-10:C25.0 ICD-10:C25.1 ICD-10:C25.2 ICD-10:C25.7 ICD-10:C25.8 ICD-11:2C10.0 UMLS:C1335315 Not applicable Adult Belgium AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424073 Serous cystadenocarcinoma of pancreas ORPHA:424073 ICD-10:C25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1335315 E (Exact mapping: the two concepts are equivalent) OGCT of pancreas Osteoclastic giant cell tumor of pancreas Pancreatic osteoclastic giant cell tumor Pancreatic undifferentiated carcinoma with osteoclast-like giant cells Undifferentiated carcinoma of pancreas with osteoclast-like giant cells A rare type of pancreatic ductal adenocarcinoma characterized by composition of non-neoplastic osteoclast-like multinucleated giant cells, a mononuclear histiocytic component, and the neoplastic cells, which vary from spindle-shaped to epithelioid and can be very large and pleomorphic. Clinical features of pancreatic ductal adenocarcinoma include abdominal pain, nausea, weight loss, jaundice, and new-onset diabetes. Orphanet ICD-10:C25.0 ICD-10:C25.1 ICD-10:C25.2 ICD-10:C25.7 ICD-10:C25.8 UMLS:C2007059 Not applicable Adult Belgium AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas ORPHA:424080 ICD-10:C25.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C25.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2007059 E (Exact mapping: the two concepts are equivalent) Microphthalmia-coloboma-rhizomelic skeletal dysplasia Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Orphanet ICD-10:Q87.5 OMIM:615877 UMLS:C4707229 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615877 E (Exact mapping: the two concepts are equivalent) UMLS:C4707229 E (Exact mapping: the two concepts are equivalent) Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. Orphanet ICD-10:G71.2 UMLS:C4706390 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424107 Congenital myopathy with myasthenic-like onset ORPHA:424107 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706390 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2Y Autosomal recessive muscular dystrophy due to LAP1B deficiency Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency LGMD type 2Y LGMD2Y Muscular dystrophy with progressive weakness, distal contractures and rigid spine TOR1AIP1-related LGMD A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. Orphanet ICD-10:G71.0 OMIM:617072 UMLS:C4511482 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424261 TOR1AIP1-related limb-girdle muscular dystrophy ORPHA:424261 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617072 E (Exact mapping: the two concepts are equivalent) UMLS:C4511482 E (Exact mapping: the two concepts are equivalent) UMLS:C5681207 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 Category ORPHA:424925 UMLS:C5681207 E (Exact mapping: the two concepts are equivalent) Rare malignant epithelial tumor of liver and IBT UMLS:C5680080 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract Category ORPHA:424933 UMLS:C5680080 E (Exact mapping: the two concepts are equivalent) Carcinoma of liver and IBT https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424936 Carcinoma of liver and intrahepatic biliary tract Category ORPHA:424936 Adenocarcinoma of the liver and IBT A rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes. Orphanet ICD-10:C22.0 UMLS:C5192429 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.715 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.201 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.219 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.753 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.659 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.471 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.412 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.309 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.262 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.582 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.256 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.157 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.642 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.206 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.426 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.118 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.267 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.481 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.365 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.154 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.471 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.467 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.377 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424943 Adenocarcinoma of the liver and intrahepatic biliary tract ORPHA:424943 ICD-10:C22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5192429 E (Exact mapping: the two concepts are equivalent) Undifferentiated carcinoma of liver and IBT Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated. Orphanet ICD-10:C22.0 UMLS:C4749401 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.049 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract ORPHA:424970 ICD-10:C22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749401 E (Exact mapping: the two concepts are equivalent) Squamous cell carcinoma of liver and IBT Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. Orphanet ICD-10:C22.0 ICD-10:C22.1 UMLS:C4749400 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424975 Squamous cell carcinoma of liver and intrahepatic biliary tract ORPHA:424975 ICD-10:C22.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C22.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749400 E (Exact mapping: the two concepts are equivalent) Intrahepatic bile duct cystadenocarcinoma ICD-10:C22.1 ICD-11:2C12.1Y UMLS:C0334286 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424982 Biliary cystadenocarcinoma ORPHA:424982 ICD-10:C22.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C12.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0334286 E (Exact mapping: the two concepts are equivalent) Adenocarcinoma of the gallbladder and EBT A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. Orphanet ICD-10:C23 ICD-10:C24.0 ICD-10:C24.1 ICD-10:C24.8 UMLS:C4707555 Not applicable Adult Europe AND has_annual_incidence_average_value : 2.62 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract ORPHA:424991 ICD-10:C23 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707555 E (Exact mapping: the two concepts are equivalent) Squamous cell carcinoma of gallblader and EBT A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. Orphanet ICD-10:C23 ICD-10:C24.0 ICD-10:C24.1 ICD-10:C24.8 ICD-10:C24.9 UMLS:C4707898 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.124 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.077 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract ORPHA:424996 ICD-10:C23 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707898 E (Exact mapping: the two concepts are equivalent) ApoA-I deficiency Familial apoA-I deficiency Familial hypoalphalipoproteinemia A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). Orphanet ICD-10:E78.6 ICD-11:5C81.0 MedDRA:10065133 OMIM:604091 OMIM:618463 UMLS:C0342898 Autosomal dominant All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=425 Apolipoprotein A-I deficiency ORPHA:425 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065133 E (Exact mapping: the two concepts are equivalent) OMIM:604091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618463 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342898 E (Exact mapping: the two concepts are equivalent) UMLS:C5681210 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=425003 Inherited digestive cancer-predisposing syndrome Category ORPHA:425003 UMLS:C5681210 E (Exact mapping: the two concepts are equivalent) SAVI STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. Orphanet ICD-10:M35.8 MedDRA:10088833 OMIM:615934 UMLS:C4014722 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=425120 STING-associated vasculopathy with onset in infancy ORPHA:425120 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10088833 E (Exact mapping: the two concepts are equivalent) OMIM:615934 E (Exact mapping: the two concepts are equivalent) UMLS:C4014722 E (Exact mapping: the two concepts are equivalent) Rare epithelial tumor of small bowel UMLS:C5680079 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=425368 Rare epithelial tumor of small intestine Category ORPHA:425368 UMLS:C5680079 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial hypobetalipoproteinemia ORPHA:426 17q25.3 DSI GIT P4Hbeta PDI PDIA1 PO4HB PROHB collagen prolyl 4-hydroxylase beta protein disulfide isomerase family A, member 1 protein disulfide isomerase-associated 1 ClinVar:P4HB Ensembl:ENSG00000185624 Genatlas:P4HB HGNC:8548 OMIM:176790 Reactome:P07237 SwissProt:P07237 P4HB prolyl 4-hydroxylase subunit beta 4q26 KIAA0755 ClinVar:SEC24D Ensembl:ENSG00000150961 Genatlas:SEC24D HGNC:10706 OMIM:607186 Reactome:O94855 SwissProt:O94855 SEC24D SEC24 homolog D, COPII coat complex component 1p36.33 ClinVar:DVL1 Ensembl:ENSG00000107404 Genatlas:DVL1 HGNC:3084 OMIM:601365 Reactome:O14640 SwissProt:O14640 DVL1 dishevelled segment polarity protein 1 20p12.2 RIC-4 RIC4 SEC9 SNAP-25 bA416N4.2 dJ1068F16.2 resistance to inhibitors of cholinesterase 4 homolog ClinVar:SNAP25 Ensembl:ENSG00000132639 Genatlas:SNAP25 HGNC:11132 OMIM:600322 Reactome:P60880 SwissProt:P60880 SNAP25 synaptosome associated protein 25 21q22.3 msk myocardial SNF1-like kinase ClinVar:SIK1 Ensembl:ENSG00000142178 Genatlas:SIK1 HGNC:11142 IUPHAR:2197 OMIM:605705 Reactome:P57059 SwissProt:P57059 SIK1 salt inducible kinase 1 1p35.1 ClinVar:HPCA Ensembl:ENSG00000121905 Genatlas:HPCA HGNC:5144 OMIM:142622 Reactome:P84074 SwissProt:P84074 HPCA hippocalcin 15q15.3 76P FLJ14797 GCP4 gamma-ring complex protein 76 kDa gamma-tubulin complex protein 4 ClinVar:TUBGCP4 Ensembl:ENSG00000137822 Genatlas:TUBGCP4 HGNC:16691 OMIM:609610 Reactome:Q9UGJ1 SwissProt:Q9UGJ1 TUBGCP4 tubulin gamma complex component 4 1q24.2 RE2 ClinVar:GPR161 Ensembl:ENSG00000143147 Genatlas:GPR161 HGNC:23694 IUPHAR:141 OMIM:612250 Reactome:Q8N6U8 SwissProt:Q8N6U8 GPR161 G protein-coupled receptor 161 Marshall syndrome with periodic fever Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. Orphanet ICD-10:E85.0 ICD-11:DA01.10 MedDRA:10070594 UMLS:C4082167 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=42642 PFAPA syndrome ORPHA:42642 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10070594 E (Exact mapping: the two concepts are equivalent) UMLS:C4082167 E (Exact mapping: the two concepts are equivalent) 10q26.3 SCEH short chain enoyl-CoA hydratase ClinVar:ECHS1 Ensembl:ENSG00000127884 Genatlas:ECHS1 HGNC:3151 OMIM:602292 Reactome:P30084 SwissProt:P30084 ECHS1 enoyl-CoA hydratase, short chain 1 12q24.22 nNOS ClinVar:NOS1 Ensembl:ENSG00000089250 Genatlas:NOS1 HGNC:7872 IUPHAR:1251 OMIM:163731 Reactome:P29475 SwissProt:P29475 NOS1 nitric oxide synthase 1 Hypopigmentation-deafness syndrome Hypopigmentation-hearing loss syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. Orphanet ICD-10:E70.3 ICD-11:EC23.2Y MeSH:C536919 OMIM:103500 UMLS:C0391816 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=42665 Tietz syndrome ORPHA:42665 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536919 E (Exact mapping: the two concepts are equivalent) OMIM:103500 E (Exact mapping: the two concepts are equivalent) UMLS:C0391816 E (Exact mapping: the two concepts are equivalent) 16p13.12 DAN deadenylation nuclease ClinVar:PARN Ensembl:ENSG00000140694 Genatlas:PARN HGNC:8609 OMIM:604212 Reactome:O95453 SwissProt:O95453 PARN poly(A)-specific ribonuclease Xp11.3 ESSS NP17.3 Np15 complex I NP17.3 subunit ClinVar:NDUFB11 Ensembl:ENSG00000147123 Genatlas:NDUFB11 HGNC:20372 OMIM:300403 Reactome:Q9NX14 SwissProt:Q9NX14 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 9q34.11 ClinVar:DNM1 Ensembl:ENSG00000106976 Genatlas:DNM1 HGNC:2972 OMIM:602377 Reactome:Q05193 SwissProt:Q05193 DNM1 dynamin 1 6p24.3-p24.2 IGNT Ii blood group NAGCT1 ULG3 bA360O19.2 bA421M1.1 unassigned linkage group 3 ClinVar:GCNT2 Ensembl:ENSG00000111846 Genatlas:GCNT2 HGNC:4204 OMIM:600429 SwissProt:Q8N0V5 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic. Orphanet ICD-10:E27.4 ICD-11:5A73 OMIM:203400 OMIM:606984 OMIM:610600 UMLS:C4275180 Autosomal recessive Adolescent Adult Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=427 Familial hypoaldosteronism ORPHA:427 ICD-10:E27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:203400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606984 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610600 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4275180 E (Exact mapping: the two concepts are equivalent) Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit. Orphanet MedDRA:10052210 UMLS:C1853118 Autosomal dominant Autosomal recessive X-linked recessive Childhood China AND has_point_prevalence_average_value : 25.7 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 0.077 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=42738 Severe congenital neutropenia Clinical group ORPHA:42738 MedDRA:10052210 E (Exact mapping: the two concepts are equivalent) UMLS:C1853118 E (Exact mapping: the two concepts are equivalent) PHACES syndrome Pascual-Castroviejo syndrome type 2 A rare infantile hemangioma characterized by the association of anomalies of Posterior fossa brain malformations, segmental infantile large facial or neck Hemangiomas, Arterial anomalies (usually of the head and neck or the arteries supplying the brain), aortic coarctation and other Cardiac anomalies, and Eye abnormalities (acronym PHACE). Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Orphanet ICD-10:Q28.8 ICD-11:LD2F.1Y MedDRA:10068032 OMIM:606519 UMLS:C3698479 Unknown Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=42775 PHACE syndrome ORPHA:42775 ICD-10:Q28.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10068032 E (Exact mapping: the two concepts are equivalent) OMIM:606519 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3698479 E (Exact mapping: the two concepts are equivalent) AD hypocalcemia A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with disproportionately low/normal levels of parathyroid hormone (PTH) and persistent normal or elevated renal calcium excretion. Orphanet ICD-10:E20.8 ICD-11:5A50.0Y OMIM:601198 OMIM:615361 UMLS:C4048195 Autosomal dominant All ages Denmark AND has_point_prevalence_average_value : 0.161 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 3.9 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=428 Autosomal dominant hypocalcemia Clinical subtype ORPHA:428 ICD-10:E20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601198 E (Exact mapping: the two concepts are equivalent) OMIM:615361 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4048195 E (Exact mapping: the two concepts are equivalent) A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. Orphanet ICD-10:Q77.4 ICD-11:LD24.01 MeSH:C562937 MedDRA:10020967 OMIM:146000 UMLS:C0410529 Autosomal dominant Adolescent Adult Antenatal Childhood Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 3.0303 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.0303 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=429 Hypochondroplasia ORPHA:429 ICD-10:Q77.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562937 E (Exact mapping: the two concepts are equivalent) MedDRA:10020967 E (Exact mapping: the two concepts are equivalent) OMIM:146000 E (Exact mapping: the two concepts are equivalent) UMLS:C0410529 E (Exact mapping: the two concepts are equivalent) ALD X-ALD X-linked ALD A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy. Orphanet ICD-10:E71.3 ICD-11:5C57.1 MeSH:D000326 MedDRA:10051260 OMIM:300100 OMIM:302700 UMLS:C0162309 X-linked dominant Adolescent Adult Childhood Elderly Israel AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 2.0639 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=43 X-linked adrenoleukodystrophy ORPHA:43 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000326 E (Exact mapping: the two concepts are equivalent) MedDRA:10051260 E (Exact mapping: the two concepts are equivalent) OMIM:300100 E (Exact mapping: the two concepts are equivalent) OMIM:302700 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0162309 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Creeping myiasis OBSOLETE: Hypodermyiasis ORPHA:430 Xq24 Cwc24 RNF113 ClinVar:RNF113A Ensembl:ENSG00000125352 Genatlas:RNF113A HGNC:12974 OMIM:300951 SwissProt:O15541 RNF113A ring finger protein 113A This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xp22.3 microdeletion syndrome MeSH:C537365 OMIM:308200 Ichthyosis-male hypogonadism syndrome ORPHA:431 MeSH:C537365 E (Exact mapping: the two concepts are equivalent) OMIM:308200 E (Exact mapping: the two concepts are equivalent) 17q11.2 CHET9 JJAZ1 KIAA0160 ClinVar:SUZ12 Ensembl:ENSG00000178691 Genatlas:SUZ12 HGNC:17101 OMIM:606245 Reactome:Q15022 SwissProt:Q15022 SUZ12 SUZ12 polycomb repressive complex 2 subunit 10q23.2 ClinVar:FAM22A Ensembl:ENSG00000184923 Genatlas:FAM22A HGNC:23438 SwissProt:Q8IVF1 NUTM2A NUT family member 2A 10q22.3 bA119F19.1 ClinVar:FAM22B Ensembl:ENSG00000188199 Genatlas:FAM22B HGNC:23445 SwissProt:A6NNL0 NUTM2B NUT family member 2B 3q25.1 DKFZp586I1419 TAZ transcriptional coactivator with PDZ-binding motif ClinVar:WWTR1 Ensembl:ENSG00000018408 Genatlas:WWTR1 HGNC:24042 OMIM:607392 Reactome:Q9GZV5 SwissProt:Q9GZV5 WWTR1 WW domain containing transcription regulator 1 7q21.11 SemE ClinVar:SEMA3C Ensembl:ENSG00000075223 Genatlas:SEMA3C HGNC:10725 OMIM:602645 SwissProt:Q99985 SEMA3C semaphorin 3C X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. Orphanet ICD-10:Q87.0 OMIM:300915 UMLS:C4749694 X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300915 E (Exact mapping: the two concepts are equivalent) UMLS:C4749694 E (Exact mapping: the two concepts are equivalent) 7q21.11 Sema-Z2 coll-2 ClinVar:SEMA3D Ensembl:ENSG00000153993 Genatlas:SEMA3D HGNC:10726 OMIM:609907 SwissProt:O95025 SEMA3D semaphorin 3D Combined immunodeficiency with childhood-onset Kaposi sarcoma Combined immunodeficiency with impaired immunity to HHV-8 Combined immunodeficiency with impaired immunity to human herpes virus 8 Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. Orphanet ICD-10:D81.8 OMIM:615593 UMLS:C4707864 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431149 Combined immunodeficiency due to OX40 deficiency ORPHA:431149 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615593 E (Exact mapping: the two concepts are equivalent) UMLS:C4707864 E (Exact mapping: the two concepts are equivalent) Aconitase deficiency ISCU myopathy Iron-sulfur cluster deficiency myopathy Myopathy with exercise intolerance, Swedish type A rare disorder of energy metabolism characterized clinically by myopathy with severe exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes, succinate dehydrogenase and aconitase. Orphanet ICD-10:G71.3 ICD-11:5C53.1 MeSH:C564972 OMIM:255125 UMLS:C1850718 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency ORPHA:43115 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564972 E (Exact mapping: the two concepts are equivalent) OMIM:255125 E (Exact mapping: the two concepts are equivalent) UMLS:C1850718 E (Exact mapping: the two concepts are equivalent) UMLS:C5681211 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431156 Primary immunodeficiency with predisposition to severe viral infection Category ORPHA:431156 UMLS:C5681211 E (Exact mapping: the two concepts are equivalent) Serotonergic syndrome Serotonin storm Serotonin toxicity Serotonin toxidrome A rare neurologic disease characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs) and recreational stimulants. Orphanet ICD-10:T43.1 ICD-11:8D85 MeSH:D020230 MedDRA:10040108 UMLS:C0699828 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=43116 Serotonin syndrome ORPHA:43116 ICD-10:T43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D85 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020230 E (Exact mapping: the two concepts are equivalent) MedDRA:10040108 E (Exact mapping: the two concepts are equivalent) UMLS:C0699828 E (Exact mapping: the two concepts are equivalent) Primary immunodeficiency with post-MMR vaccine viral infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. Orphanet ICD-10:D84.8 OMIM:616636 OMIM:616669 UMLS:C5190882 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ORPHA:431166 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616636 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616669 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190882 E (Exact mapping: the two concepts are equivalent) A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death. Orphanet ICD-10:T43.0 UMLS:C5681319 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=43117 Acute tricyclic antidepressant poisoning ORPHA:43117 ICD-10:T43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681319 E (Exact mapping: the two concepts are equivalent) A rare clinical situation characterized by acute, potentially life-threatening toxic effects of drugs acting on voltage-gated sodium or calcium channels, such as tricyclic antidepressants, anticonvulsants, local anesthetics and antiarrhythmics, some beta-blockers, and chloroquine. Clinical manifestations include abnormal ECG findings (intraventricular conduction block with widening of the QRS complex, T wave flattening, prolongation of the QT interval) and variable signs and symptoms depending on the drug, typically involving the cardiovascular and central nervous system, among others. Orphanet ICD-10:X44 UMLS:C5681320 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=43119 Acute poisoning by drugs with membrane-stabilizing effect ORPHA:43119 ICD-10:X44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681320 E (Exact mapping: the two concepts are equivalent) 1p36.22 FK506 binding protein 12-rapamycin associated protein 2 FKBP-rapamycin associated protein FKBP12-rapamycin complex-associated protein 1 FLJ44809 RAFT1 RAPT1 dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) mammalian target of rapamycin rapamycin and FKBP12 target 1 rapamycin associated protein FRAP2 rapamycin target protein ClinVar:MTOR Ensembl:ENSG00000198793 Genatlas:MTOR HGNC:3942 IUPHAR:2109 OMIM:601231 Reactome:P42345 SwissProt:P42345 MTOR mechanistic target of rapamycin kinase 5q11.1 ISLET1 Isl-1 ClinVar:ISL1 Ensembl:ENSG00000016082 Genatlas:ISL1 HGNC:6132 OMIM:600366 Reactome:P61371 SwissProt:P61371 ISL1 ISL LIM homeobox 1 Neurogenic scapuloperoneal amyotrophy, New England type SPSMA Scapuloperoneal neuronopathy A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities. Orphanet ICD-10:G12.1 ICD-11:8B61.4 OMIM:181405 UMLS:C0751335 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 31.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431255 Scapuloperoneal spinal muscular atrophy ORPHA:431255 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:181405 E (Exact mapping: the two concepts are equivalent) UMLS:C0751335 E (Exact mapping: the two concepts are equivalent) Late-onset SPMD with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type UMLS:C5680081 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Clinical group ORPHA:431263 UMLS:C5680081 E (Exact mapping: the two concepts are equivalent) X-linked SPMD X-linked scapuloperoneal syndrome A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Orphanet ICD-10:G71.0 ICD-11:8C70.5 OMIM:300695 UMLS:C5399872 X-linked dominant Adult Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431272 X-linked scapuloperoneal muscular dystrophy ORPHA:431272 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300695 E (Exact mapping: the two concepts are equivalent) UMLS:C5399872 E (Exact mapping: the two concepts are equivalent) SPOAN and SPOAN-related disorder A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. Orphanet UMLS:C5230629 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder Clinical group ORPHA:431320 UMLS:C5230629 E (Exact mapping: the two concepts are equivalent) SPG57 Spastic paraplegia due to partial TFG deficiency Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the <i>TFG </i> gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. Orphanet ICD-10:G11.4 ICD-11:8B44.01 OMIM:615658 UMLS:C3714897 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431329 Autosomal recessive spastic paraplegia type 57 ORPHA:431329 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615658 E (Exact mapping: the two concepts are equivalent) UMLS:C3714897 E (Exact mapping: the two concepts are equivalent) Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. Orphanet ICD-10:Q64.4 ICD-11:LB03.0 UMLS:C0266357 Not applicable Neonatal United States AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431341 Patent urachus ORPHA:431341 ICD-10:Q64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB03.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266357 E (Exact mapping: the two concepts are equivalent) Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. Orphanet ICD-10:Q64.4 ICD-11:LB03.0 UMLS:C3472657 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431344 Urachal sinus ORPHA:431344 ICD-10:Q64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB03.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3472657 E (Exact mapping: the two concepts are equivalent) Vesicourachal diverticulum Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. Orphanet ICD-10:Q64.4 ICD-11:LB03.0 UMLS:C0431743 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431347 Urachal diverticulum ORPHA:431347 ICD-10:Q64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB03.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431743 E (Exact mapping: the two concepts are equivalent) A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. Orphanet UMLS:C3698354 All ages France AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Category ORPHA:431353 UMLS:C3698354 E (Exact mapping: the two concepts are equivalent) 2,4-dienoyl-CoA reductase deficiency DECR deficiency with hyperlysinemia Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. Orphanet ICD-10:G31.8 MeSH:C565624 OMIM:616034 UMLS:C1857252 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency ORPHA:431361 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565624 E (Exact mapping: the two concepts are equivalent) OMIM:616034 E (Exact mapping: the two concepts are equivalent) UMLS:C1857252 E (Exact mapping: the two concepts are equivalent) 1q32.2 K(V)10.1 Kv10.1 eag eag1 ether-a-go-go 1 h-eag hEAG ClinVar:KCNH1 Ensembl:ENSG00000143473 Genatlas:KCNH1 HGNC:6250 IUPHAR:570 OMIM:603305 Reactome:O95259 SwissProt:O95259 KCNH1 potassium voltage-gated channel subfamily H member 1 19p13.3 APCL adenomatous polyposis coli like ClinVar:APC2 Ensembl:ENSG00000115266 Genatlas:APC2 HGNC:24036 OMIM:612034 SwissProt:O95996 APC2 APC regulator of WNT signaling pathway 2 11q13.1 CALDAG-GEFI calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I ClinVar:RASGRP2 Ensembl:ENSG00000068831 Genatlas:RASGRP2 HGNC:9879 OMIM:605577 Reactome:Q7LDG7 SwissProt:Q7LDG7 RASGRP2 RAS guanyl releasing protein 2 1p34.2 GATD5 GATD5A ClinVar:CTPS1 Ensembl:ENSG00000171793 Genatlas:CTPS1 HGNC:2519 IUPHAR:3215 OMIM:123860 Reactome:P17812 SwissProt:P17812 CTPS1 CTP synthase 1 3p25.3 FLJ14602 GL009 ClinVar:JAGN1 Ensembl:ENSG00000171135 Genatlas:JAGN1 HGNC:26926 OMIM:616012 Reactome:Q8N5M9 SwissProt:Q8N5M9 JAGN1 jagunal homolog 1 2q35 CD182 CMKAR2 ClinVar:CXCR2 Ensembl:ENSG00000180871 Genatlas:CXCR2 HGNC:6027 IUPHAR:69 OMIM:146928 Reactome:P25025 SwissProt:P25025 CXCR2 C-X-C motif chemokine receptor 2 19p13.11 LAG1 UOG1 ClinVar:LASS1 Ensembl:ENSG00000223802 Genatlas:LASS1 HGNC:14253 IUPHAR:2474 OMIM:606919 Reactome:P27544 SwissProt:P27544 CERS1 ceramide synthase 1 19p13.2 KIAA1518 SIP steroid receptor coactivator interacting protein ClinVar:KANK2 Ensembl:ENSG00000197256 Genatlas:KANK2 HGNC:29300 OMIM:614610 Reactome:Q63ZY3 SwissProt:Q63ZY3 KANK2 KN motif and ankyrin repeat domains 2 1q25.3 SLC53A1 SYG1 X3 solute carrier family 53 (phosphate exporter), member 1 ClinVar:XPR1 Ensembl:ENSG00000143324 Genatlas:XPR1 HGNC:12827 IUPHAR:3021 OMIM:605237 SwissProt:Q9UBH6 XPR1 xenotropic and polytropic retrovirus receptor 1 Xq13.1 MZIP4 Spo22 TGC1 TSGA3 ZIP4 ZIP4 homolog (S. cerevisiae) ZIP4H ClinVar:TEX11 Ensembl:ENSG00000120498 Genatlas:TEX11 HGNC:11733 OMIM:300311 Reactome:Q8IYF3 SwissProt:Q8IYF3 TEX11 testis expressed 11 3p25.3 GABA transporter 1 GABATHG GABATR GAT-1 GAT1 Sodium- and chloride-dependent GABA transporter 1 hGAT-1 ClinVar:SLC6A1 Ensembl:ENSG00000157103 Genatlas:SLC6A1 HGNC:11042 IUPHAR:929 OMIM:137165 Reactome:P30531 SwissProt:P30531 SLC6A1 solute carrier family 6 member 1 7q21.11 ACZ DKFZp779G1236 KIAA0559 aczonin ClinVar:PCLO Ensembl:ENSG00000186472 Genatlas:PCLO HGNC:13406 OMIM:604918 SwissProt:Q9Y6V0 PCLO piccolo presynaptic cytomatrix protein 3p25.3 IL17-RL ClinVar:IL17RC Ensembl:ENSG00000163702 Genatlas:IL17RC HGNC:18358 IUPHAR:1740 OMIM:610925 Reactome:Q8NAC3 SwissProt:Q8NAC3 IL17RC interleukin 17 receptor C 12p12.2 CGI-PDE cGMP-inhibited 3',5'-cyclic phosphodiesterase A ClinVar:PDE3A Ensembl:ENSG00000172572 Genatlas:PDE3A HGNC:8778 IUPHAR:1298 OMIM:123805 Reactome:Q14432 SwissProt:Q14432 PDE3A phosphodiesterase 3A Normosmic idiopathic hypogonadotropic hypogonadism nIHH ICD-10:E23.0 ICD-11:5A61.0 OMIM:146110 OMIM:147950 OMIM:244200 OMIM:308700 OMIM:610628 OMIM:612370 OMIM:612702 OMIM:614837 OMIM:614838 OMIM:614839 OMIM:614840 OMIM:614841 OMIM:614842 OMIM:614858 OMIM:614880 OMIM:615266 OMIM:615269 OMIM:615270 OMIM:619755 UMLS:C5680088 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=432 Normosmic congenital hypogonadotropic hypogonadism Clinical subtype ORPHA:432 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:146110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:147950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:244200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610628 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612702 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614837 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614838 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614839 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614840 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614841 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614842 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614858 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614880 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615266 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615269 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619755 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680088 E (Exact mapping: the two concepts are equivalent) 6p12.1 HELO1 dJ483K16.1 ClinVar:ELOVL5 Ensembl:ENSG00000012660 Genatlas:ELOVL5 HGNC:21308 OMIM:611805 Reactome:Q9NYP7 SwissProt:Q9NYP7 ELOVL5 ELOVL fatty acid elongase 5 1q25.2 FLJ13142 LAP1 LAP1B LAP1C lamina associated polypeptide 1B Ensembl:ENSG00000143337 HGNC:29456 OMIM:614512 Reactome:Q5JTV8 SwissProt:Q5JTV8 TOR1AIP1 torsin 1A interacting protein 1 3q29 FLJ35794 ClinVar:RNF168 Ensembl:ENSG00000163961 Genatlas:RNF168 HGNC:26661 OMIM:612688 Reactome:Q8IYW5 SwissProt:Q8IYW5 RNF168 ring finger protein 168 6p21.33 valine tRNA ligase 1, cytoplasmic ClinVar:VARS2 Ensembl:ENSG00000204394 Genatlas:VARS2 HGNC:12651 OMIM:192150 Reactome:P26640 SwissProt:P26640 VARS1 valyl-tRNA synthetase 1 1q21.2 FLJ12528 threonine tRNA ligase 2, mitochondrial ClinVar:TARS2 Ensembl:ENSG00000143374 Genatlas:TARS2 HGNC:30740 OMIM:612805 Reactome:Q9BW92 SwissProt:Q9BW92 TARS2 threonyl-tRNA synthetase 2, mitochondrial 14q12 FLJ10111 FLJ23501 HOIL-1-interacting protein HOIP Paul ZIBRA ClinVar:RNF31 Ensembl:ENSG00000092098 Genatlas:RNF31 HGNC:16031 OMIM:612487 Reactome:Q96EP0 SwissProt:Q96EP0 RNF31 ring finger protein 31 1q32.1 FANCT HSPC150 ClinVar:UBE2T Ensembl:ENSG00000077152 Genatlas:UBE2T HGNC:25009 OMIM:610538 Reactome:Q9NPD8 SwissProt:Q9NPD8 UBE2T ubiquitin conjugating enzyme E2 T Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). Orphanet ICD-10:G73.1 ICD-11:8C62 MeSH:D015624 MedDRA:10067685 UMLS:C0022972 Not applicable Adult Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=43393 Lambert-Eaton myasthenic syndrome ORPHA:43393 ICD-10:G73.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015624 E (Exact mapping: the two concepts are equivalent) MedDRA:10067685 E (Exact mapping: the two concepts are equivalent) UMLS:C0022972 E (Exact mapping: the two concepts are equivalent) Microcephaly-cerebral malformation-orofaciodigital syndrome OFD14 Oral-facial-digital syndrome type 14 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and <i>C2CD3</i> mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. Orphanet ICD-10:Q87.0 ICD-11:LD25.00 OMIM:615948 UMLS:C4706604 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=434179 Orofaciodigital syndrome type 14 ORPHA:434179 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615948 E (Exact mapping: the two concepts are equivalent) UMLS:C4706604 E (Exact mapping: the two concepts are equivalent) 1p36.33 ACT35 CD134 OX40 ClinVar:TNFRSF4 Ensembl:ENSG00000186827 Genatlas:TNFRSF4 HGNC:11918 IUPHAR:1873 OMIM:600315 Reactome:P43489 SwissProt:P43489 TNFRSF4 TNF receptor superfamily member 4 5p13.2 FLJ30596 MNADK mitochondrial NAD kinase Ensembl:ENSG00000152620 HGNC:26404 OMIM:615787 Reactome:Q4G0N4 SwissProt:Q4G0N4 NADK2 NAD kinase 2, mitochondrial 11q13.4 DKFZP586P0123 ClinVar:C2CD3 Ensembl:ENSG00000168014 Genatlas:C2CD3 HGNC:24564 OMIM:615944 Reactome:Q4AC94 SwissProt:Q4AC94 C2CD3 C2 domain containing 3 centriole elongation regulator 14q32.2 ELP79 EMAP HuEMAP ClinVar:EML1 Ensembl:ENSG00000066629 Genatlas:EML1 HGNC:3330 OMIM:602033 Reactome:O00423 SwissProt:O00423 EML1 EMAP like 1 12q13.3 STAT113 ClinVar:STAT2 Ensembl:ENSG00000170581 Genatlas:STAT2 HGNC:11363 OMIM:600556 Reactome:P52630 SwissProt:P52630 STAT2 signal transducer and activator of transcription 2 4p12 ATC2 CRN Lrp4 PRSC TMPRSS10 ClinVar:CORIN Ensembl:ENSG00000145244 Genatlas:CORIN HGNC:19012 OMIM:605236 Reactome:Q9Y5Q5 SwissProt:Q9Y5Q5 CORIN corin, serine peptidase 6p22.3 DCDC2A KIAA1154 NPHP19 RU2 nephronophthisis 19 ClinVar:DCDC2 Ensembl:ENSG00000146038 Genatlas:DCDC2 HGNC:18141 OMIM:605755 Reactome:Q9UHG0 SwissProt:Q9UHG0 DCDC2 doublecortin domain containing 2 15q24.1 FLJ21128 LSM16 LSM16 homolog (EDC3, S. cerevisiae) YJEFN2 hYjeF_N2-15q23 ClinVar:EDC3 Ensembl:ENSG00000179151 Genatlas:EDC3 HGNC:26114 OMIM:609842 Reactome:Q96F86 SwissProt:Q96F86 EDC3 enhancer of mRNA decapping 3 14q21.3 ClinVar:SOS2 Ensembl:ENSG00000100485 Genatlas:SOS2 HGNC:11188 OMIM:601247 Reactome:Q07890 SwissProt:Q07890 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 17q21.31 ClinVar:FZD2 Ensembl:ENSG00000180340 Genatlas:FZD2 HGNC:4040 IUPHAR:230 OMIM:600667 Reactome:Q14332 SwissProt:Q14332 FZD2 frizzled class receptor 2 9q34.3 Alpha-MPP KIAA0123 MAS2 ClinVar:PMPCA Ensembl:ENSG00000165688 Genatlas:PMPCA HGNC:18667 OMIM:613036 Reactome:Q10713 SwissProt:Q10713 PMPCA peptidase, mitochondrial processing subunit alpha 22q11.21 PI4K-ALPHA phosphatidylinositol 4-kinase III alpha phosphatidylinositol 4-kinase IIIa pi4K230 ClinVar:PI4KA Ensembl:ENSG00000241973 Genatlas:PI4KA HGNC:8983 IUPHAR:2148 OMIM:600286 Reactome:P42356 SwissProt:P42356 PI4KA phosphatidylinositol 4-kinase alpha 1p13.3 MGC54289 PRO180 RP5-1180E21.1 WWFQ154 ClinVar:DRAM2 Ensembl:ENSG00000156171 Genatlas:DRAM2 HGNC:28769 OMIM:613360 SwissProt:Q6UX65 DRAM2 DNA damage regulated autophagy modulator 2 17q21.2 COX25 HSPC009 MITRAC12 hCOA3 ClinVar:COA3 Ensembl:ENSG00000183978 Genatlas:COA3 HGNC:24990 OMIM:614775 SwissProt:Q9Y2R0 COA3 cytochrome c oxidase assembly factor 3 17q21.33 PXYLT2 XT-II protein xylosyltransferase 2 ClinVar:XYLT2 Ensembl:ENSG00000015532 Genatlas:XYLT2 HGNC:15517 OMIM:608125 Reactome:Q9H1B5 SwissProt:Q9H1B5 XYLT2 xylosyltransferase 2 5q33.1 BM-40 ONT cysteine-rich protein secreted protein acidic and rich in cysteine ClinVar:SPARC Ensembl:ENSG00000113140 Genatlas:SPARC HGNC:11219 OMIM:182120 Reactome:P09486 SwissProt:P09486 SPARC secreted protein acidic and cysteine rich 3p21.1 BAF180 PB1 SMARCH1 ClinVar:PBRM1 Ensembl:ENSG00000163939 Genatlas:PBRM1 HGNC:30064 IUPHAR:2738 OMIM:606083 Reactome:Q86U86 SwissProt:Q86U86 PBRM1 polybromo 1 UMLS:C5681212 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=434786 Rare genetic autonomic nervous system disorder Category ORPHA:434786 UMLS:C5681212 E (Exact mapping: the two concepts are equivalent) UMLS:C0345427 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=434809 Syndrome with woolly hair Category ORPHA:434809 UMLS:C0345427 E (Exact mapping: the two concepts are equivalent) OBSOLETE: HI syndrome OBSOLETE: Hypomelanosis of Ito OBSOLETE: Pigmentary mosaicism, Ito type This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hypopigmentation of the skin OBSOLETE: Ito hypomelanosis ORPHA:435 Familial Gigantiform cementoma Multiple ossifying fibroma A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion. Orphanet ICD-10:D16.4 MeSH:C563017 MedDRA:10081225 OMIM:137575 UMLS:C3495361 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435329 Familial ossifying fibroma ORPHA:435329 ICD-10:D16.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563017 E (Exact mapping: the two concepts are equivalent) MedDRA:10081225 E (Exact mapping: the two concepts are equivalent) OMIM:137575 E (Exact mapping: the two concepts are equivalent) UMLS:C3495361 E (Exact mapping: the two concepts are equivalent) LUTO ICD-11:LB31.2 UMLS:C4305545 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435365 Fetal lower urinary tract obstruction Clinical group ORPHA:435365 ICD-11:LB31.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4305545 E (Exact mapping: the two concepts are equivalent) A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis. Orphanet ICD-10:Q64.7 ICD-11:LB31.2 UMLS:C0431755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435372 Anterior urethral valve ORPHA:435372 ICD-10:Q64.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431755 E (Exact mapping: the two concepts are equivalent) Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation CMT2 due to VCP mutation CMT2Y A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported. Orphanet ICD-10:G60.0 ICD-11:8C20.1 OMIM:616687 UMLS:C5569026 Autosomal dominant Adult Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y ORPHA:435387 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616687 E (Exact mapping: the two concepts are equivalent) UMLS:C5569026 E (Exact mapping: the two concepts are equivalent) EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7 A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. Orphanet ICD-10:G40.3 ICD-11:8A61.41 OMIM:616187 UMLS:C4015420 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435438 Progressive myoclonic epilepsy type 7 ORPHA:435438 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616187 E (Exact mapping: the two concepts are equivalent) UMLS:C4015420 E (Exact mapping: the two concepts are equivalent) 1p34.2 FLJ14490 SLC59A1 sodium-dependent LPC symporter 1 sodium-dependent lysophosphatidylcholine symporter 1 ClinVar:MFSD2A Ensembl:ENSG00000168389 Genatlas:MFSD2A HGNC:25897 IUPHAR:3041 OMIM:614397 Reactome:Q8NA29 SwissProt:Q8NA29 MFSD2A MFSD2 lysolipid transporter A, lysophospholipid UMLS:C5681172 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435554 Genetic precocious puberty Category ORPHA:435554 UMLS:C5681172 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435561 Rare precocious puberty in female Category ORPHA:435561 UMLS:C5681171 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435564 Genetic precocious puberty in female Category ORPHA:435564 UMLS:C5681171 E (Exact mapping: the two concepts are equivalent) 6q25.3 RSP3 dJ111C20.1 ClinVar:RSPH3 Ensembl:ENSG00000130363 Genatlas:RSPH3 HGNC:21054 OMIM:615876 Reactome:Q86UC2 SwissProt:Q86UC2 RSPH3 radial spoke head 3 UMLS:C5681175 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435603 Genetic otorhinolaryngological malformation Category ORPHA:435603 UMLS:C5681175 E (Exact mapping: the two concepts are equivalent) UMLS:C5681174 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435606 Genetic nose and cavum anomaly Category ORPHA:435606 UMLS:C5681174 E (Exact mapping: the two concepts are equivalent) UMLS:C5681173 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435609 Genetic larynx anomaly Category ORPHA:435609 UMLS:C5681173 E (Exact mapping: the two concepts are equivalent) UMLS:C5681176 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435612 Genetic tracheal anomaly Category ORPHA:435612 UMLS:C5681176 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Congenital absence of toes This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic limb reduction defect OBSOLETE: Adactyly of foot ORPHA:435623 Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal. Orphanet ICD-10:E88.1 OMIM:614098 UMLS:C3279800 Autosomal dominant Not applicable Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435628 Keppen-Lubinsky syndrome ORPHA:435628 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614098 E (Exact mapping: the two concepts are equivalent) UMLS:C3279800 E (Exact mapping: the two concepts are equivalent) Del(3)p(25.3) Intellectual disability-epilepsy-stereotypic hand movement syndrome Monosomy 3p25.3 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. Orphanet ICD-10:Q93.5 ICD-11:LD44.31 UMLS:C5437630 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435638 3p25.3 microdeletion syndrome ORPHA:435638 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437630 E (Exact mapping: the two concepts are equivalent) CIDEC-related FPLD FPLD5 A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. Orphanet ICD-10:E88.1 ICD-11:5A44 OMIM:615238 UMLS:C3808940 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435651 CIDEC-related familial partial lipodystrophy ORPHA:435651 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615238 E (Exact mapping: the two concepts are equivalent) UMLS:C3808940 E (Exact mapping: the two concepts are equivalent) FPLD6 LIPE-related FPLD A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. Orphanet ICD-10:E88.1 ICD-11:5A44 OMIM:615980 UMLS:C4014869 Autosomal recessive Adult Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435660 LIPE-related familial partial lipodystrophy ORPHA:435660 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615980 E (Exact mapping: the two concepts are equivalent) UMLS:C4014869 E (Exact mapping: the two concepts are equivalent) Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms). Orphanet UMLS:C1739100 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435743 Congenital urachal anomaly Category ORPHA:435743 UMLS:C1739100 E (Exact mapping: the two concepts are equivalent) 2p25.3 RNase H1 ClinVar:RNASEH1 Ensembl:ENSG00000171865 Genatlas:RNASEH1 HGNC:18466 OMIM:604123 SwissProt:O60930 RNASEH1 ribonuclease H1 14q23.1 JBTS23 Talpid3 ClinVar:KIAA0586 Ensembl:ENSG00000100578 Genatlas:KIAA0586 HGNC:19960 OMIM:610178 SwissProt:Q9BVV6 KIAA0586 KIAA0586 A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. Orphanet ICD-10:M89.8 OMIM:165800 UMLS:C5681177 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome ORPHA:435804 ICD-10:M89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:165800 E (Exact mapping: the two concepts are equivalent) UMLS:C5681177 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Proteoglycan-related bone disorder OBSOLETE: ACAN-related skeletal dysplasia ORPHA:435808 CMT2 due to TFG mutation A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients. Orphanet ICD-10:G60.0 UMLS:C5569028 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation ORPHA:435819 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5569028 E (Exact mapping: the two concepts are equivalent) Lethal neonatal rigidity-multifocal seizure syndrome A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning <i>in utero</i>. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. Orphanet ICD-10:G40.4 OMIM:614498 OMIM:618056 UMLS:C3281029 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome ORPHA:435845 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614498 E (Exact mapping: the two concepts are equivalent) OMIM:618056 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3281029 E (Exact mapping: the two concepts are equivalent) A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. Orphanet ICD-10:Q14.8 OMIM:212550 UMLS:C4225424 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome ORPHA:435930 ICD-10:Q14.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:212550 E (Exact mapping: the two concepts are equivalent) UMLS:C4225424 E (Exact mapping: the two concepts are equivalent) COG2-related congenital disorder of glycosylation A rare, congenital disorder of glycosylation caused by mutations in the <i>COG2</i> gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI. Orphanet ICD-10:E77.8 ICD-11:5C54.2 OMIM:617395 UMLS:C4479353 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435934 COG2-CDG ORPHA:435934 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617395 E (Exact mapping: the two concepts are equivalent) UMLS:C4479353 E (Exact mapping: the two concepts are equivalent) X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Orphanet ICD-10:Q87.8 OMIM:300998 UMLS:C5681178 X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome ORPHA:435938 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300998 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681178 E (Exact mapping: the two concepts are equivalent) Ruijs-Aalfs syndrome A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported. Orphanet ICD-10:C22.0 OMIM:616200 UMLS:C4015461 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435953 Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953 ICD-10:C22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616200 E (Exact mapping: the two concepts are equivalent) UMLS:C4015461 E (Exact mapping: the two concepts are equivalent) CAID syndrome Chronic atrial dysrhythmia-intestinal motility disorder A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present. Orphanet ICD-10:K59.8 MedDRA:10086078 OMIM:616201 UMLS:C4015474 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435988 Chronic atrial and intestinal dysrhythmia syndrome ORPHA:435988 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10086078 E (Exact mapping: the two concepts are equivalent) OMIM:616201 E (Exact mapping: the two concepts are equivalent) UMLS:C4015474 E (Exact mapping: the two concepts are equivalent) RI-CMT type D Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. Orphanet ICD-10:G60.0 OMIM:616039 UMLS:C5569027 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D ORPHA:435998 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616039 E (Exact mapping: the two concepts are equivalent) UMLS:C5569027 E (Exact mapping: the two concepts are equivalent) HPP Phosphoethanolaminuria Rathbun disease A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood. Orphanet ICD-10:E83.3 ICD-11:5C64.3 MeSH:D007014 MedDRA:10049933 OMIM:146300 OMIM:241500 OMIM:241510 UMLS:C0020630 Autosomal dominant Autosomal recessive All ages China AND has_point_prevalence_average_value : 0.0208 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436 Hypophosphatasia ORPHA:436 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007014 E (Exact mapping: the two concepts are equivalent) MedDRA:10049933 E (Exact mapping: the two concepts are equivalent) OMIM:146300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:241500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:241510 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020630 E (Exact mapping: the two concepts are equivalent) 5q23 microdeletion syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. Orphanet ICD-10:Q87.0 UMLS:C5680042 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436003 Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680042 E (Exact mapping: the two concepts are equivalent) Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. Orphanet ICD-10:Q87.8 OMIM:618493 UMLS:C5681179 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436141 HIDEA syndrome ORPHA:436141 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618493 E (Exact mapping: the two concepts are equivalent) UMLS:C5681179 E (Exact mapping: the two concepts are equivalent) A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. Orphanet ICD-10:Q87.1 UMLS:C5681180 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome ORPHA:436144 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681180 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Intellectual disability-loss of expressive language-facial dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-specific syndromic intellectual disability OBSOLETE: Intellectual disability-expressive aphasia-facial dysmorphism syndrome ORPHA:436151 ALPS due to CTLA4 haploinsuffiency CHAI CTLA-4 haploinsufficiency with autoimmune infiltration disease A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy. Orphanet ICD-10:D84.8 OMIM:616100 UMLS:C4015214 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616100 E (Exact mapping: the two concepts are equivalent) UMLS:C4015214 E (Exact mapping: the two concepts are equivalent) NLRC4-related MAS NLRC4-related autoinflammatory syndrome with MAS NLRC4-related autoinflammatory syndrome with macrophage activation syndrome NLRC4-related infantile enterocolitis-autoinflammatory syndrome NLRC4-related macrophage activation syndrome A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death. Orphanet ICD-10:E85.0 OMIM:616050 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome ORPHA:436166 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616050 E (Exact mapping: the two concepts are equivalent) THBD-related bleeding disorder THBD-related coagulopathy Thrombomodulin-related coagulopathy A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation. Orphanet ICD-10:D68.3 MeSH:C566057 OMIM:614486 UMLS:C3280976 Autosomal dominant All ages Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436169 Thrombomodulin-related bleeding disorder ORPHA:436169 ICD-10:D68.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566057 E (Exact mapping: the two concepts are equivalent) OMIM:614486 E (Exact mapping: the two concepts are equivalent) UMLS:C3280976 E (Exact mapping: the two concepts are equivalent) CAGSSS A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Orphanet ICD-10:E88.8 OMIM:616007 UMLS:C4014942 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616007 E (Exact mapping: the two concepts are equivalent) UMLS:C4014942 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. Orphanet ICD-10:Q87.1 OMIM:616541 OMIM:617253 UMLS:C5681181 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436182 Microcephalic primordial dwarfism-insulin resistance syndrome ORPHA:436182 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616541 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617253 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681181 E (Exact mapping: the two concepts are equivalent) A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood. Orphanet ICD-10:I45.8 OMIM:616117 UMLS:C5681182 Autosomal dominant Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease ORPHA:436242 ICD-10:I45.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616117 E (Exact mapping: the two concepts are equivalent) UMLS:C5681182 E (Exact mapping: the two concepts are equivalent) Retinal dystrophy-juvenile cataract-short stature syndrome A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). Orphanet ICD-10:Q87.8 OMIM:616108 UMLS:C4015242 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ORPHA:436245 ICD-10:Q87.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616108 E (Exact mapping: the two concepts are equivalent) UMLS:C4015242 E (Exact mapping: the two concepts are equivalent) CID-MIA/early-onset IBD A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. Orphanet ICD-10:Q82.8 OMIM:243150 UMLS:C5680044 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436252 Combined immunodeficiency-enteropathy spectrum ORPHA:436252 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:243150 E (Exact mapping: the two concepts are equivalent) UMLS:C5680044 E (Exact mapping: the two concepts are equivalent) A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed. Orphanet ICD-10:G93.4 OMIM:619061 UMLS:C5681183 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619061 E (Exact mapping: the two concepts are equivalent) UMLS:C5681183 E (Exact mapping: the two concepts are equivalent) PXE-like syndrome with retinitis pigmentosa A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps. Orphanet ICD-10:Q82.8 UMLS:C5680045 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ORPHA:436274 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680045 E (Exact mapping: the two concepts are equivalent) 2q31.1 FLJ14736 JPO1 ClinVar:CDCA7 Ensembl:ENSG00000144354 Genatlas:CDCA7 HGNC:14628 OMIM:609937 SwissProt:Q9BWT1 CDCA7 cell division cycle associated 7 10q23.33 LSH Nbla10143 PASG SALNR SMARCA6 SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6 Senescence Associated Long Non-coding RNA proliferation-associated SNF2-like protein ClinVar:HELLS Ensembl:ENSG00000119969 Genatlas:HELLS HGNC:4861 OMIM:603946 Reactome:Q9NRZ9 SwissProt:Q9NRZ9 HELLS helicase, lymphoid specific 7p13 E1k KGD1 OGDC-E1 OGDH2 ClinVar:OGDH Ensembl:ENSG00000105953 Genatlas:OGDH HGNC:8124 OMIM:613022 Reactome:Q02218 SwissProt:Q02218 OGDH oxoglutarate dehydrogenase 1q23.3 ATF6A ATP6alpha activating transcription factor 6 alpha ClinVar:ATF6 Ensembl:ENSG00000118217 Genatlas:ATF6 HGNC:791 OMIM:605537 Reactome:P18850 SwissProt:P18850 ATF6 activating transcription factor 6 5q31.2 CAP102 alpha-E-catenin ClinVar:CTNNA1 Ensembl:ENSG00000044115 Genatlas:CTNNA1 HGNC:2509 OMIM:116805 Reactome:P35221 SwissProt:P35221 CTNNA1 catenin alpha 1 4q35.1 FLJ11200 ClinVar:UFSP2 Ensembl:ENSG00000109775 Genatlas:UFSP2 HGNC:25640 OMIM:611482 SwissProt:Q9NUQ7 UFSP2 UFM1 specific peptidase 2 21q22.3 OSC Oxidosqualene-lanosterol cyclase ClinVar:LSS Ensembl:ENSG00000160285 Genatlas:LSS HGNC:6708 IUPHAR:2434 OMIM:600909 Reactome:P48449 SwissProt:P48449 LSS lanosterol synthase 5q22.1 Mitochondrial outer membrane protein ClinVar:SLC25A46 Ensembl:ENSG00000164209 Genatlas:SLC25A46 HGNC:25198 IUPHAR:1096 OMIM:610826 Reactome:Q96AG3 SwissProt:Q96AG3 SLC25A46 solute carrier family 25 member 46 3p14.3 APPL DCC-interacting protein 13-alpha ClinVar:APPL1 Ensembl:ENSG00000157500 Genatlas:APPL1 HGNC:24035 OMIM:604299 Reactome:Q9UKG1 SwissProt:Q9UKG1 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities. Orphanet ICD-11:5C63.22 MeSH:D063730 MedDRA:10060873 UMLS:C1704375 Autosomal dominant Autosomal recessive X-linked dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=437 Hypophosphatemic rickets Clinical group ORPHA:437 ICD-11:5C63.22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D063730 E (Exact mapping: the two concepts are equivalent) MedDRA:10060873 E (Exact mapping: the two concepts are equivalent) UMLS:C1704375 E (Exact mapping: the two concepts are equivalent) 19q13.32 PHKD PHKD3 phosphorylase kinase subunit delta phosphorylase kinase subunit delta 3 prepro-calmodulin 3 ClinVar:CALM3 Ensembl:ENSG00000160014 Genatlas:CALM3 HGNC:1449 OMIM:114183 SwissProt:P0DP25 CALM3 calmodulin 3 10q25.3 FSAP HABP HGFAL PHBP factor VII activating protein plasma hyaluronan binding protein ClinVar:HABP2 Ensembl:ENSG00000148702 Genatlas:HABP2 HGNC:4798 OMIM:603924 SwissProt:Q14520 HABP2 hyaluronan binding protein 2 Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity CD16 deficiency A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up. Orphanet ICD-10:D84.8 OMIM:615707 UMLS:C5680046 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity ORPHA:437552 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615707 E (Exact mapping: the two concepts are equivalent) UMLS:C5680046 E (Exact mapping: the two concepts are equivalent) OBSOLETE: MYH7-related late-onset SPMD OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal dominant myosin storage myopathy OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy ORPHA:437572 1p34.1 RAD54A hHR54 hRAD54 ClinVar:RAD54L Ensembl:ENSG00000085999 Genatlas:RAD54L HGNC:9826 OMIM:603615 SwissProt:Q92698 RAD54L RAD54 like 17q23.3 PP2C-DELTA Wip1 protein phosphatase 2C, delta isoform wild-type p53-induced phosphatase 1 ClinVar:PPM1D Ensembl:ENSG00000170836 Genatlas:PPM1D HGNC:9277 IUPHAR:3134 OMIM:605100 Reactome:O15297 SwissProt:O15297 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 11p15.4 BWR1A ITM TSSC5 imprinted multi-membrane-spanning polyspecific transporter-like gene 1 organic cation transporter like 2 ClinVar:SLC22A18 Ensembl:ENSG00000110628 Genatlas:SLC22A18 HGNC:10964 IUPHAR:1036 OMIM:602631 Reactome:Q96BI1 SwissProt:Q96BI1 SLC22A18 solute carrier family 22 member 18 6q14.2 dJ237I15.1 ClinVar:RIPPLY2 Ensembl:ENSG00000203877 Genatlas:RIPPLY2 HGNC:21390 OMIM:609891 Reactome:Q5TAB7 SwissProt:Q5TAB7 RIPPLY2 ripply transcriptional repressor 2 4q24 KBF1 NF-kB1 NF-kappaB NFKB-p50 NFkappaB Nuclear factor NF-kappa-B p105 subunit p105 p50 ClinVar:NFKB1 Ensembl:ENSG00000109320 Genatlas:NFKB1 HGNC:7794 IUPHAR:3281 OMIM:164011 Reactome:P19838 SwissProt:P19838 NFKB1 nuclear factor kappa B subunit 1 5q31.2 ERIS FLJ38577 MITA MPYS NET23 STING endoplasmic reticulum IFN stimulator stimulator of interferon genes ClinVar:TMEM173 Ensembl:ENSG00000184584 Genatlas:TMEM173 HGNC:27962 IUPHAR:2902 OMIM:612374 Reactome:Q86WV6 SwissProt:Q86WV6 STING1 stimulator of interferon response cGAMP interactor 1 UMLS:C5681184 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438072 Disorder of keton body transport Category ORPHA:438072 UMLS:C5681184 E (Exact mapping: the two concepts are equivalent) A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition. Orphanet ICD-10:E88.8 OMIM:616095 UMLS:C4015186 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency ORPHA:438075 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616095 E (Exact mapping: the two concepts are equivalent) UMLS:C4015186 E (Exact mapping: the two concepts are equivalent) 6q21 POLZ REV3 polymerase, DNA, zeta ClinVar:REV3L Ensembl:ENSG00000009413 Genatlas:REV3L HGNC:9968 OMIM:602776 Reactome:O60673 SwissProt:O60673 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination. Orphanet ICD-10:E75.2 OMIM:616140 UMLS:C4015323 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438114 RARS-related autosomal recessive hypomyelinating leukodystrophy ORPHA:438114 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616140 E (Exact mapping: the two concepts are equivalent) UMLS:C4015323 E (Exact mapping: the two concepts are equivalent) Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Orphanet ICD-10:Q87.5 OMIM:615155 UMLS:C3554594 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438117 Steel syndrome ORPHA:438117 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615155 E (Exact mapping: the two concepts are equivalent) UMLS:C3554594 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis caused by homozygous mutations in the <i>PCNA</i> gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. Orphanet ICD-10:G11.3 OMIM:615919 UMLS:C4014676 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438134 PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134 ICD-10:G11.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615919 E (Exact mapping: the two concepts are equivalent) UMLS:C4014676 E (Exact mapping: the two concepts are equivalent) A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells. Orphanet ICD-10:M35.8 OMIM:615952 UMLS:C4014795 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438159 STAT3-related early-onset multisystem autoimmune disease ORPHA:438159 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615952 E (Exact mapping: the two concepts are equivalent) UMLS:C4014795 E (Exact mapping: the two concepts are equivalent) FAR1 deficiency PFCRD Peroxisomal fatty acyl-CoA reductase 1 disorder A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. Orphanet ICD-10:E71.3 OMIM:616154 UMLS:C4015344 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438178 Fatty acyl-CoA reductase 1 deficiency ORPHA:438178 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616154 E (Exact mapping: the two concepts are equivalent) UMLS:C4015344 E (Exact mapping: the two concepts are equivalent) A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia. Orphanet ICD-10:D69.4 OMIM:616176 UMLS:C5569048 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438207 Severe autosomal recessive macrothrombocytopenia ORPHA:438207 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616176 E (Exact mapping: the two concepts are equivalent) UMLS:C5569048 E (Exact mapping: the two concepts are equivalent) A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. Orphanet ICD-10:G40.4 MedDRA:10085882 OMIM:616158 UMLS:C4708498 Autosomal dominant Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ORPHA:438213 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10085882 E (Exact mapping: the two concepts are equivalent) OMIM:616158 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4708498 E (Exact mapping: the two concepts are equivalent) ICD-10:G40.4 OMIM:616158 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Etiological subtype ORPHA:438216 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616158 E (Exact mapping: the two concepts are equivalent) PERM A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas. Orphanet ICD-10:G04.8 ICD-11:8D82 MeSH:C566113 OMIM:184850 UMLS:C1861457 Not applicable Adult Infancy Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438266 Progressive encephalomyelitis with rigidity and myoclonus Clinical subtype ORPHA:438266 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566113 E (Exact mapping: the two concepts are equivalent) OMIM:184850 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1861457 E (Exact mapping: the two concepts are equivalent) 15q15.1 ClinVar:DLL4 Ensembl:ENSG00000128917 Genatlas:DLL4 HGNC:2910 OMIM:605185 Reactome:Q9NR61 SwissProt:Q9NR61 DLL4 delta like canonical Notch ligand 4 Mahvash disease A rare tumor of pancreas caused by mutations in the <i>GCGR</i> gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. Orphanet ICD-10:E16.3 OMIM:619290 UMLS:C4763635 Autosomal recessive Adult Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438274 GCGR-related hyperglucagonemia ORPHA:438274 ICD-10:E16.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619290 E (Exact mapping: the two concepts are equivalent) UMLS:C4763635 E (Exact mapping: the two concepts are equivalent) A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course. Orphanet ICD-10:B03 ICD-10:B04 ICD-10:B08.0 UMLS:C5681185 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=438279 Human infection by orthopoxvirus ORPHA:438279 ICD-10:B03 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:B04 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:B08.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681185 E (Exact mapping: the two concepts are equivalent) 22q13.1 MGC15204 dJ1039K5 ClinVar:PICK1 Ensembl:ENSG00000100151 Genatlas:PICK1 HGNC:9394 OMIM:605926 Reactome:Q9NRD5 SwissProt:Q9NRD5 PICK1 protein interacting with PRKCA 1 Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. Orphanet ICD-10:Q22.6 ICD-11:LA88.Y MeSH:C535682 OMIM:277200 UMLS:C1848587 Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439 Isolated right ventricular hypoplasia ORPHA:439 ICD-10:Q22.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535682 E (Exact mapping: the two concepts are equivalent) OMIM:277200 E (Exact mapping: the two concepts are equivalent) UMLS:C1848587 E (Exact mapping: the two concepts are equivalent) Uteroplacental vascular insufficiency A rare obstetric disease characterized by inadequate blood flow to the placenta during pregnancy, resulting in a decrease in trans-placental transfer of oxygen and nutrients to the fetus, potentially leading to fetal growth retardation, distress, or death. Maternal risk factors include preeclampsia, gestational diabetes, and smoking, among others. Orphanet ICD-10:O43.8 ICD-10:P02.2 ICD-11:JA8A.Y MeSH:D010927 MedDRA:10035138 UMLS:C0032051 Not applicable Adult Worldwide AND has_point_prevalence_average_value : 33.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439167 Placental insufficiency ORPHA:439167 ICD-10:O43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P02.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:JA8A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D010927 E (Exact mapping: the two concepts are equivalent) MedDRA:10035138 E (Exact mapping: the two concepts are equivalent) UMLS:C0032051 E (Exact mapping: the two concepts are equivalent) Childhood AIS Childhood arterial ischemic stroke Pediatric AIS A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits. Orphanet ICD-10:I63.5 UMLS:C5680049 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439175 Pediatric arterial ischemic stroke ORPHA:439175 ICD-10:I63.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680049 E (Exact mapping: the two concepts are equivalent) NAE Necrolytic acral erythema A rare skin disease characterized initially by erythematous patches with superficial necrosis, at later stages by hyperkeratotic plaques with a rim of dusky erythema, of exclusively acral distribution with a predilection for the lower extremities, and universal association with hepatitis C virus infection. Patients typically experience pruritus or pain. Serum zinc levels may or may not be decreased, although oral zinc supplementation often improves the condition. Orphanet ICD-10:L53.8 MedDRA:10084061 UMLS:C4546437 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439196 Zinc-responsive necrolytic acral erythema ORPHA:439196 ICD-10:L53.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10084061 E (Exact mapping: the two concepts are equivalent) UMLS:C4546437 E (Exact mapping: the two concepts are equivalent) Chronic obstetric brachial plexus injury Chronic obstetric brachial plexus palsy Non-recovering OBPI Non-recovering OBPL A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities. Orphanet ICD-10:P14.3 UMLS:C5680048 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439202 Non-recovering obstetric brachial plexus lesion ORPHA:439202 ICD-10:P14.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680048 E (Exact mapping: the two concepts are equivalent) EMARDD A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. Orphanet ICD-10:G71.2 OMIM:614399 UMLS:C3280679 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ORPHA:439212 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614399 E (Exact mapping: the two concepts are equivalent) UMLS:C3280679 E (Exact mapping: the two concepts are equivalent) KCNQ2-NEE KCNQ2-related neonatal epileptic encephalopathy KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Orphanet ICD-10:G40.4 OMIM:613720 UMLS:C4755256 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439218 KCNQ2-related epileptic encephalopathy ORPHA:439218 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613720 E (Exact mapping: the two concepts are equivalent) UMLS:C4755256 E (Exact mapping: the two concepts are equivalent) Leukocyte chemotactic factor-2 amyloidosis A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands. Orphanet ICD-10:E85.8 ICD-11:5D00.0 UMLS:C5680047 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439224 ALECT2 amyloidosis ORPHA:439224 ICD-10:E85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680047 E (Exact mapping: the two concepts are equivalent) Apolipoprotein A-IV amyloidosis A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis. Orphanet ICD-10:E85.8 ICD-11:5D00.2Y UMLS:C5568805 Not applicable Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439232 AApoAIV amyloidosis ORPHA:439232 ICD-10:E85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5568805 E (Exact mapping: the two concepts are equivalent) Beta2-microglobulinic amyloidosis ICD-11:5D00.3 UMLS:C5680053 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439246 ABeta2M amyloidosis Clinical group ORPHA:439246 ICD-11:5D00.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680053 E (Exact mapping: the two concepts are equivalent) Familial cerebral amyloid angiopathy ITM2B-related amyloidosis ITM2B-related cerebral amyloid angiopathy A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:5D00.2Y OMIM:117300 OMIM:176500 UMLS:C5568806 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439254 ITM2B amyloidosis ORPHA:439254 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:117300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:176500 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5568806 E (Exact mapping: the two concepts are equivalent) Cutaneous PAN Cutaneous periarteritis nodosa Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy. Orphanet ICD-10:M30.0 ICD-11:EF40.Z UMLS:C0343190 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439729 Cutaneous polyarteritis nodosa Clinical subtype ORPHA:439729 ICD-10:M30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF40.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0343190 E (Exact mapping: the two concepts are equivalent) Primary PAN Primary periarteritis nodosa ICD-10:M30.0 ICD-11:4A44.4 UMLS:C5680052 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439737 Primary polyarteritis nodosa Clinical subtype ORPHA:439737 ICD-10:M30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680052 E (Exact mapping: the two concepts are equivalent) Secondary PAN Secondary periarteritis nodosa Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV). Orphanet ICD-10:M30.0 ICD-10:M30.8 ICD-11:4A44.4 UMLS:C5680050 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439746 Secondary polyarteritis nodosa Clinical subtype ORPHA:439746 ICD-10:M30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680050 E (Exact mapping: the two concepts are equivalent) Single-organ PAN Single-organ periarteritis nodosa Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common. Orphanet ICD-10:M30.0 ICD-11:4A44.4 UMLS:C5680051 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439755 Single-organ polyarteritis nodosa Clinical subtype ORPHA:439755 ICD-10:M30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680051 E (Exact mapping: the two concepts are equivalent) Systemic PAN Systemic periarteritis nodosa Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement. Orphanet ICD-10:M30.0 ICD-11:4A44.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439762 Systemic polyarteritis nodosa Clinical subtype ORPHA:439762 ICD-10:M30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. Orphanet ICD-10:Q87.8 OMIM:615668 UMLS:C5681186 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439822 PDE4D haploinsufficiency syndrome ORPHA:439822 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615668 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C5681186 E (Exact mapping: the two concepts are equivalent) UMLS:C5447331 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439849 Autosomal recessive severe congenital neutropenia Category ORPHA:439849 UMLS:C5447331 E (Exact mapping: the two concepts are equivalent) Fatal congenital hypertrophic cardiomyopathy due to GSD Fatal congenital hypertrophic cardiomyopathy due to glycogenosis A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. Orphanet ICD-10:E74.0 MeSH:C564888 OMIM:261740 UMLS:C1849813 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease ORPHA:439854 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564888 E (Exact mapping: the two concepts are equivalent) OMIM:261740 E (Exact mapping: the two concepts are equivalent) UMLS:C1849813 E (Exact mapping: the two concepts are equivalent) Croupous bronchitis Fibrinous bronchitis Pseudo-membranous bronchitis ICD-10:J98.0 ICD-11:CA42.Z UMLS:C0264342 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439881 Plastic bronchitis ORPHA:439881 ICD-10:J98.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA42.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0264342 E (Exact mapping: the two concepts are equivalent) Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. Orphanet ICD-10:Q87.8 OMIM:616258 UMLS:C4015701 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616258 E (Exact mapping: the two concepts are equivalent) UMLS:C4015701 E (Exact mapping: the two concepts are equivalent) Intermediate PBD-ZSD Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder NALD A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). Orphanet ICD-10:E71.3 ICD-11:5A74.Y OMIM:202370 OMIM:266510 OMIM:601539 OMIM:614863 OMIM:614867 OMIM:614871 OMIM:614873 OMIM:614877 OMIM:614885 OMIM:614920 OMIM:617370 UMLS:C0282525 Autosomal recessive Childhood Infancy Neonatal Italy AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=44 Neonatal adrenoleukodystrophy ORPHA:44 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:202370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:266510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601539 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614863 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614867 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614871 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614873 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614877 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614885 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617370 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0282525 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic posterior hypospadias OBSOLETE: Familial hypospadias ORPHA:440 4q31.3 ClinVar:MAB21L2 Ensembl:ENSG00000181541 Genatlas:MAB21L2 HGNC:6758 OMIM:604357 Reactome:Q9Y586 SwissProt:Q9Y586 MAB21L2 mab-21 like 2 Congenital CNIII lesion Congenital third cranial nerve palsy A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration. Orphanet ICD-10:Q07.8 ICD-11:9C81.0Y UMLS:C5680054 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440221 Congenital oculomotor nerve palsy ORPHA:440221 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C81.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680054 E (Exact mapping: the two concepts are equivalent) Benign congenital sixth cranial nerve palsy Congenital CNVI palsy A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously. Orphanet ICD-10:Q07.8 ICD-11:9C81.2 UMLS:C5680055 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440233 Congenital abducens nerve palsy ORPHA:440233 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680055 E (Exact mapping: the two concepts are equivalent) 17p13.1 FLJ37528 WD40-repeat protein upregulated in HCC WDRPUH ClinVar:WDR16 Ensembl:ENSG00000166596 Genatlas:WDR16 HGNC:16053 OMIM:609804 SwissProt:Q8N1V2 CFAP52 cilia and flagella associated protein 52 1p36.32 P73 ClinVar:TP73 Ensembl:ENSG00000078900 Genatlas:TP73 HGNC:12003 OMIM:601990 Reactome:O15350 SwissProt:O15350 TP73 tumor protein p73 Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. Orphanet ICD-10:Q87.5 UMLS:C5680056 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680056 E (Exact mapping: the two concepts are equivalent) NSTI A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation. Orphanet ICD-10:M72.6 MedDRA:10076637 UMLS:C2732890 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440368 Necrotizing soft tissue infection ORPHA:440368 ICD-10:M72.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10076637 E (Exact mapping: the two concepts are equivalent) UMLS:C2732890 E (Exact mapping: the two concepts are equivalent) Interstitial lung disease due to surfactant protein C deficiency A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications. Orphanet ICD-10:J84.8 MeSH:C567048 OMIM:610913 UMLS:C1970470 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440392 Interstitial lung disease due to SP-C deficiency ORPHA:440392 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567048 E (Exact mapping: the two concepts are equivalent) OMIM:610913 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1970470 E (Exact mapping: the two concepts are equivalent) Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. Orphanet ICD-10:J84.8 MeSH:C567046 OMIM:610921 UMLS:C1970456 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440402 Interstitial lung disease due to ABCA3 deficiency ORPHA:440402 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567046 E (Exact mapping: the two concepts are equivalent) OMIM:610921 E (Exact mapping: the two concepts are equivalent) UMLS:C1970456 E (Exact mapping: the two concepts are equivalent) Hereditary pulmonary alveolar proteinosis with hepatic involvement Interstitial lung and liver disease PAP, Reunion island type Pulmonary alveolar proteinosis, Reunion island type A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis. Orphanet ICD-10:J84.0 OMIM:615486 UMLS:C4225400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ORPHA:440427 ICD-10:J84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615486 E (Exact mapping: the two concepts are equivalent) UMLS:C4225400 E (Exact mapping: the two concepts are equivalent) FCCTX A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes. Orphanet ICD-10:C18.0 ICD-10:C18.1 ICD-10:C18.2 ICD-10:C18.3 ICD-10:C18.4 ICD-10:C18.5 ICD-10:C18.6 ICD-10:C18.7 UMLS:C3896578 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440437 Familial colorectal cancer Type X ORPHA:440437 ICD-10:C18.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C18.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3896578 E (Exact mapping: the two concepts are equivalent) UMLS:C5681188 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440701 Disorders of pentose/polyol metabolism Category ORPHA:440701 UMLS:C5681188 E (Exact mapping: the two concepts are equivalent) Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. Orphanet ICD-10:G93.8 MeSH:C563212 OMIM:608611 UMLS:C1291609 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440706 Ribose-5-P isomerase deficiency ORPHA:440706 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563212 E (Exact mapping: the two concepts are equivalent) OMIM:608611 E (Exact mapping: the two concepts are equivalent) UMLS:C1291609 E (Exact mapping: the two concepts are equivalent) Isolated SHPK deficiency A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear. Orphanet ICD-10:E88.8 OMIM:617213 UMLS:C1291373 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440713 Isolated sedoheptulokinase deficiency ORPHA:440713 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617213 E (Exact mapping: the two concepts are equivalent) UMLS:C1291373 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral. Orphanet ICD-10:H47.0 UMLS:C5681187 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440724 Extensive peripapillary myelinated nerve fibers ORPHA:440724 ICD-10:H47.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681187 E (Exact mapping: the two concepts are equivalent) CHR-RPE Combined hamartoma of the retina and RPE A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision. Orphanet ICD-10:D31.2 UMLS:C1862062 Not applicable Childhood Worldwide AND has_cases/families_value : 120.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440727 Combined hamartoma of the retina and retinal pigment epithelium ORPHA:440727 ICD-10:D31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1862062 E (Exact mapping: the two concepts are equivalent) A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported. Orphanet ICD-10:E88.0 OMIM:615604 UMLS:C3810090 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440731 L-ferritin deficiency ORPHA:440731 ICD-10:E88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615604 E (Exact mapping: the two concepts are equivalent) UMLS:C3810090 E (Exact mapping: the two concepts are equivalent) A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly. Orphanet ICD-10:Q44.0 ICD-11:LB20.10 MeSH:C562564 MedDRA:10079018 UMLS:C0266251 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=440987 Isolated agenesis of gallbladder ORPHA:440987 ICD-10:Q44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB20.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562564 E (Exact mapping: the two concepts are equivalent) MedDRA:10079018 E (Exact mapping: the two concepts are equivalent) UMLS:C0266251 E (Exact mapping: the two concepts are equivalent) Bradbury-Eggleston syndrome Idiopathic orthostatic hypotension PAF Pure dysautonomia Pure idiopatic dysautonomia Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. Orphanet ICD-10:G90.8 ICD-11:8D84 MeSH:D054970 UMLS:C0393911 Not applicable Adult Elderly Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=441 Pure autonomic failure ORPHA:441 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D84 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054970 E (Exact mapping: the two concepts are equivalent) UMLS:C0393911 E (Exact mapping: the two concepts are equivalent) 4q32.3 CGI-151 KIAA0992 SIH002 ClinVar:PALLD Ensembl:ENSG00000129116 Genatlas:PALLD HGNC:17068 OMIM:608092 SwissProt:Q8WX93 PALLD palladin, cytoskeletal associated protein Xq28 CNG2 FLJ46312 OCNC1 OCNCALPHA OCNCa OCNCalpha ClinVar:CNGA2 Ensembl:ENSG00000183862 Genatlas:CNGA2 HGNC:2149 IUPHAR:395 OMIM:300338 Reactome:Q16280 SwissProt:Q16280 CNGA2 cyclic nucleotide gated channel subunit alpha 2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal recessive isolated optic atrophy OBSOLETE: Autosomal recessive optic atrophy, OPA9 type ORPHA:441344 9q32 FLJ11895 KIAA1870 MGC11337 ClinVar:COL27A1 Ensembl:ENSG00000196739 Genatlas:COL27A1 HGNC:22986 OMIM:608461 Reactome:Q8IZC6 SwissProt:Q8IZC6 COL27A1 collagen type XXVII alpha 1 chain UMLS:C5681189 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=441434 Syndromic hereditary optic neuropathy Category ORPHA:441434 UMLS:C5681189 E (Exact mapping: the two concepts are equivalent) ICD-10:H26.0 OMIM:116600 UMLS:C5681190 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=441447 Early-onset posterior subcapsular cataract Clinical subtype ORPHA:441447 ICD-10:H26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:116600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681190 E (Exact mapping: the two concepts are equivalent) ICD-10:H26.8 OMIM:116100 OMIM:600881 OMIM:613763 UMLS:C5681191 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=441452 Early-onset lamellar cataract Clinical subtype ORPHA:441452 ICD-10:H26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:116100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600881 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613763 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681191 E (Exact mapping: the two concepts are equivalent) Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth. Orphanet ICD-11:5A00.0 MeSH:D003409 MedDRA:10010510 UMLS:C0010308 Autosomal recessive Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 35.4 AND has_birth_prevalence_range : 1-5 / 10 000 Australia AND has_point_prevalence_range : 1-5 / 10 000 Bahrain AND has_birth_prevalence_average_value : 33.7 AND has_birth_prevalence_range : 1-5 / 10 000 Bahrain AND has_point_prevalence_range : 1-5 / 10 000 Bangladesh AND has_birth_prevalence_average_value : 76.9 AND has_birth_prevalence_range : 6-9 / 10 000 Bosnia and Herzegovina AND has_birth_prevalence_average_value : 25.3 AND has_birth_prevalence_range : 1-5 / 10 000 Bosnia and Herzegovina AND has_point_prevalence_range : 1-5 / 10 000 Brazil AND has_annual_incidence_average_value : 97.0873 AND has_annual_incidence_range : 6-9 / 10 000 Brazil AND has_birth_prevalence_average_value : 73.35 AND has_birth_prevalence_range : 6-9 / 10 000 China AND has_birth_prevalence_average_value : 49.1 AND has_birth_prevalence_range : 1-5 / 10 000 China AND has_point_prevalence_range : 1-5 / 10 000 Cyprus AND has_birth_prevalence_average_value : 55.5 AND has_birth_prevalence_range : 1-5 / 10 000 Czech Republic AND has_birth_prevalence_average_value : 34.76 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 29.4 AND has_birth_prevalence_range : 1-5 / 10 000 Estonia AND has_birth_prevalence_average_value : 35.0 AND has_birth_prevalence_range : 1-5 / 10 000 Estonia AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 38.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 30.2 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_birth_prevalence_average_value : 57.0 AND has_birth_prevalence_range : 6-9 / 10 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 150.0 AND has_birth_prevalence_range : >1 / 1000 Ireland AND has_birth_prevalence_average_value : 45.0 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 45.5 AND has_birth_prevalence_range : 1-5 / 10 000 Latvia AND has_birth_prevalence_average_value : 15.5 AND has_birth_prevalence_range : 1-5 / 10 000 Latvia AND has_point_prevalence_range : 1-5 / 10 000 Lebanon AND has_birth_prevalence_average_value : 54.8 AND has_birth_prevalence_range : 1-5 / 10 000 Mexico AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000 Mexico AND has_point_prevalence_range : 1-5 / 10 000 New Zealand AND has_birth_prevalence_average_value : 36.0 AND has_birth_prevalence_range : 1-5 / 10 000 New Zealand AND has_point_prevalence_range : 1-5 / 10 000 Pakistan AND has_birth_prevalence_average_value : 62.5 AND has_birth_prevalence_range : 6-9 / 10 000 Poland AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_birth_prevalence_average_value : 37.3 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 50.2 AND has_birth_prevalence_range : 1-5 / 10 000 Thailand AND has_birth_prevalence_average_value : 16.0 AND has_birth_prevalence_range : 1-5 / 10 000 Thailand AND has_point_prevalence_range : 1-5 / 10 000 Turkey AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000 Turkey AND has_point_prevalence_range : 1-5 / 10 000 United Arab Emirates AND has_birth_prevalence_average_value : 63.7 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 57.0 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=442 Congenital hypothyroidism Category ORPHA:442 ICD-11:5A00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003409 E (Exact mapping: the two concepts are equivalent) MedDRA:10010510 E (Exact mapping: the two concepts are equivalent) UMLS:C0010308 E (Exact mapping: the two concepts are equivalent) Heavy chain amyloidosis A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described. Orphanet ICD-10:E85.9 ICD-11:5D00.Y UMLS:C5204115 Not applicable Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=442582 AH amyloidosis ORPHA:442582 ICD-10:E85.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5204115 E (Exact mapping: the two concepts are equivalent) 14q24.3 SRC1 and TIF2-associated modulatory protein STAMP tubulin polyglutamylase TTLL5 ClinVar:TTLL5 Ensembl:ENSG00000119685 Genatlas:TTLL5 HGNC:19963 OMIM:612268 Reactome:Q6EMB2 SwissProt:Q6EMB2 TTLL5 tubulin tyrosine ligase like 5 20p12.3 ClinVar:PCNA Ensembl:ENSG00000132646 Genatlas:PCNA HGNC:8729 OMIM:176740 Reactome:P12004 SwissProt:P12004 PCNA proliferating cell nuclear antigen Non-specific EOEE Undetermined EOEE Undetermined early-onset epileptic encephalopathy A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. Orphanet ICD-10:G40.4 OMIM:301058 OMIM:614558 OMIM:615476 OMIM:615833 OMIM:615871 OMIM:615905 OMIM:616056 OMIM:616211 OMIM:616339 OMIM:616346 OMIM:616366 OMIM:616409 OMIM:617020 OMIM:617105 OMIM:617106 OMIM:617132 OMIM:617153 OMIM:617162 OMIM:617166 OMIM:617665 OMIM:617829 OMIM:617830 OMIM:617831 OMIM:617836 OMIM:617854 OMIM:617938 OMIM:618008 OMIM:618012 OMIM:618067 OMIM:618201 OMIM:618396 OMIM:618437 OMIM:618468 OMIM:618557 OMIM:618559 OMIM:618910 OMIM:618916 OMIM:618959 OMIM:619124 OMIM:619317 OMIM:619561 OMIM:619605 OMIM:619606 OMIM:619777 OMIM:619814 OMIM:619881 OMIM:619913 OMIM:619922 OMIM:619970 OMIM:620033 OMIM:620115 OMIM:620145 OMIM:620149 UMLS:C5680057 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=442835 Non-specific early-onset epileptic encephalopathy ORPHA:442835 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:301058 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614558 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615476 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615833 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615871 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615905 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616056 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616211 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616339 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616346 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616366 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616409 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617020 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617105 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617106 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617132 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617153 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617162 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617166 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617665 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617829 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617831 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617836 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617854 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617938 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618008 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618012 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618067 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:618201 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618396 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618437 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618468 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618557 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618559 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618910 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618916 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618959 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619124 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619317 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619561 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619605 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619606 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619777 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619814 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619881 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619913 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619922 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619970 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620033 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620115 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620145 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620149 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680057 E (Exact mapping: the two concepts are equivalent) 16q24.3 DRC4 ClinVar:GAS8 Ensembl:ENSG00000141013 Genatlas:GAS8 HGNC:4166 OMIM:605178 Reactome:O95995 SwissProt:O95995 GAS8 growth arrest specific 8 19q13.31 IK KCa3.1 hIKCa1 hKCa4 hSK4 intermediate conductance calcium-activated potassium channel small conductance calcium-activated potassium channel 4 ClinVar:KCNN4 Ensembl:ENSG00000104783 Genatlas:KCNN4 HGNC:6293 IUPHAR:384 OMIM:602754 Reactome:O15554 SwissProt:O15554 KCNN4 potassium calcium-activated channel subfamily N member 4 12q15 NUP84 nuclear pore complex protein Nup107 ClinVar:NUP107 Ensembl:ENSG00000111581 Genatlas:NUP107 HGNC:29914 OMIM:607617 Reactome:P57740 SwissProt:P57740 NUP107 nucleoporin 107 1q23.3 CD16 CD16a Fc gamma receptor IIIa FcGRIIIA FcgammaRIIIa ClinVar:FCGR3A Ensembl:ENSG00000203747 Genatlas:FCGR3A HGNC:3619 IUPHAR:3017 OMIM:146740 Reactome:P08637 SwissProt:P08637 FCGR3A Fc fragment of IgG receptor IIIa 5q34 DALRD1 arginine tRNA ligase 1, cytoplasmic ClinVar:RARS Ensembl:ENSG00000113643 Genatlas:RARS HGNC:9870 OMIM:107820 Reactome:P54136 SwissProt:P54136 RARS1 arginyl-tRNA synthetase 1 Porphyria cutanea tarda type I ICD-10:E80.1 ICD-11:5C58.10 MeSH:C566768 OMIM:176090 UMLS:C1867968 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443057 Sporadic porphyria cutanea tarda Clinical subtype ORPHA:443057 ICD-10:E80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566768 E (Exact mapping: the two concepts are equivalent) OMIM:176090 E (Exact mapping: the two concepts are equivalent) UMLS:C1867968 E (Exact mapping: the two concepts are equivalent) Porphyria cutanea tarda type II ICD-10:E80.1 ICD-11:5C58.10 OMIM:176100 UMLS:C0268323 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443062 Familial porphyria cutanea tarda Clinical subtype ORPHA:443062 ICD-10:E80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:176100 E (Exact mapping: the two concepts are equivalent) UMLS:C0268323 E (Exact mapping: the two concepts are equivalent) A rare trigeminal autonomic cephalalgia characterized by indomethacin-sensitive, persistent, strictly unilateral headache lasting for more than three months, associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis, eyelid edema, and/or restlessness or agitation, and not better accounted for by another type of headache. Migrainous symptoms such as photophobia are often observed. The headache may be continuous (unremitting subtype) or interrupted by remission periods of more than 24 hours (remitting subtype). Orphanet ICD-10:G44.0 ICD-11:8A82 UMLS:C2349425 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443070 Hemicrania continua ORPHA:443070 ICD-10:G44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2349425 E (Exact mapping: the two concepts are equivalent) CMT2S A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated. Orphanet ICD-10:G60.0 OMIM:616155 UMLS:C4015349 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443073 Charcot-Marie-Tooth disease type 2S ORPHA:443073 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616155 E (Exact mapping: the two concepts are equivalent) UMLS:C4015349 E (Exact mapping: the two concepts are equivalent) CSCR A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. A blurred or gray spot in the central visual field is common when the retina is detached. Orphanet ICD-10:H35.7 ICD-11:9B75.2 MeSH:D056833 MedDRA:10086644 UMLS:C0730328 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443079 Central serous chorioretinopathy ORPHA:443079 ICD-10:H35.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B75.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D056833 E (Exact mapping: the two concepts are equivalent) MedDRA:10086644 E (Exact mapping: the two concepts are equivalent) UMLS:C0730328 E (Exact mapping: the two concepts are equivalent) A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope. Orphanet ICD-10:G90.4 ICD-11:8D89.3 UMLS:C1959798 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443084 Baroreflex failure ORPHA:443084 ICD-10:G90.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D89.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1959798 E (Exact mapping: the two concepts are equivalent) 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency ICD-10:E29.1 OMIM:614279 UMLS:C5681195 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency ORPHA:443087 ICD-10:E29.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614279 E (Exact mapping: the two concepts are equivalent) UMLS:C5681195 E (Exact mapping: the two concepts are equivalent) 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect UMLS:C5681194 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Category ORPHA:443090 UMLS:C5681194 E (Exact mapping: the two concepts are equivalent) MedDRA:10077216 UMLS:C1864903 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443095 Hyperinsulinemic hypoglycaemia Category ORPHA:443095 MedDRA:10077216 E (Exact mapping: the two concepts are equivalent) UMLS:C1864903 E (Exact mapping: the two concepts are equivalent) A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. Orphanet ICD-10:M85.2 MeSH:C564168 OMIM:144755 UMLS:C1840404 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443098 Hyperostosis cranialis interna ORPHA:443098 ICD-10:M85.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564168 E (Exact mapping: the two concepts are equivalent) OMIM:144755 E (Exact mapping: the two concepts are equivalent) UMLS:C1840404 E (Exact mapping: the two concepts are equivalent) A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal. Orphanet ICD-10:E23.3 UMLS:C5681196 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443101 Hypothalamic adipsic hypernatraemia syndrome ORPHA:443101 ICD-10:E23.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681196 E (Exact mapping: the two concepts are equivalent) Lymphoplasmacytic lymphoma without Immunoglobulin M production A rare B-cell non-Hodgkin lymphoma characterized by the presence of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow, sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anemia. Hyperviscosity, autoimmune phenomena, and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinemia. Orphanet ICD-10:C83.0 UMLS:C5680061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443159 Lymphoplasmacytic lymphoma without IgM production ORPHA:443159 ICD-10:C83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680061 E (Exact mapping: the two concepts are equivalent) MHAC NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. Orphanet ICD-10:Q04.8 OMIM:605013 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443162 NDE1-related microhydranencephaly ORPHA:443162 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605013 E (Exact mapping: the two concepts are equivalent) NMC A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of <i>NUTM1</i> rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor. Orphanet ICD-10:C80.9 MedDRA:10078295 UMLS:C1707291 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443167 NUT midline carcinoma ORPHA:443167 ICD-10:C80.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10078295 E (Exact mapping: the two concepts are equivalent) UMLS:C1707291 E (Exact mapping: the two concepts are equivalent) Puerperal psychosis A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes. Orphanet ICD-10:F53.1 ICD-11:6E21 UMLS:C0520678 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443173 Postpartum psychosis ORPHA:443173 ICD-10:F53.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:6E21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0520678 E (Exact mapping: the two concepts are equivalent) Spontaneous cerebrospinal fluid leak A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms. Orphanet ICD-10:G96.0 ICD-11:8D61.0 UMLS:C0751731 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443180 Spontaneous intracranial hypotension ORPHA:443180 ICD-10:G96.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8D61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0751731 E (Exact mapping: the two concepts are equivalent) Classic SMS Classic SPS Classic stiff man syndrome ICD-10:G25.8 ICD-11:8E4A.0 OMIM:184850 UMLS:C5680058 Not applicable Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443192 Classic stiff person syndrome Clinical subtype ORPHA:443192 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:184850 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680058 E (Exact mapping: the two concepts are equivalent) X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria XLDPP XLPP A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. Orphanet ICD-10:E80.0 MeSH:C567464 OMIM:300752 UMLS:C2677889 X-linked dominant Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443197 X-linked erythropoietic protoporphyria ORPHA:443197 ICD-10:E80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567464 E (Exact mapping: the two concepts are equivalent) OMIM:300752 E (Exact mapping: the two concepts are equivalent) UMLS:C2677889 E (Exact mapping: the two concepts are equivalent) A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection. Orphanet ICD-10:A01.1 ICD-10:A01.2 ICD-10:A01.3 ICD-10:A01.4 ICD-11:1A08 MeSH:D010284 MedDRA:10033971 UMLS:C0030528 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443227 Paratyphoid fever ORPHA:443227 ICD-10:A01.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A01.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A01.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A01.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A08 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010284 E (Exact mapping: the two concepts are equivalent) MedDRA:10033971 E (Exact mapping: the two concepts are equivalent) UMLS:C0030528 E (Exact mapping: the two concepts are equivalent) Familial orthostatic tachycardia due to norepinephrine transporter deficiency Orthostatic intolerance due to NET deficiency POTS due to NET deficiency A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. Orphanet ICD-10:I95.1 OMIM:604715 UMLS:C5680060 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443236 Postural orthostatic tachycardia syndrome due to NET deficiency ORPHA:443236 ICD-10:I95.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604715 E (Exact mapping: the two concepts are equivalent) UMLS:C5680060 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Adrenal Cushing syndrome OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor ORPHA:443287 HIV-related cancer A rare neoplastic disease characterized by occurrence in association with human immunodeficiency virus (HIV) infection. Kaposi sarcoma, aggressive B-cell lymphomas, and invasive cervical cancer are considered AIDS-defining cancers, while a variety of other cancers are known to be related to HIV, including Hodgkin lymphoma, hepatocellular carcinoma, and lung, anal, oral cavity and oropharyngeal, vulvar, and penile cancer. The majority of cancers in AIDS patients are associated with co-infection with oncogenic viruses, such as Epstein-Barr virus, human herpesvirus 8, and human papillomavirus. Orphanet ICD-10:B21.8 UMLS:C5680059 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443291 HIV-associated cancer ORPHA:443291 ICD-10:B21.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680059 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related lung cancer ORPHA:443301 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related oropharyngeal cancer ORPHA:443304 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related anal cancer ORPHA:443307 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related hepatocellular carcinoma ORPHA:443310 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related penile cancer ORPHA:443313 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related Hodgkin lymphoma ORPHA:443316 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related vulvovaginal cancer ORPHA:443319 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related cervical cancer ORPHA:443322 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related Non-Hodgkin lymphoma ORPHA:443325 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIV-associated cancer OBSOLETE: HIV-related Kaposi sarcoma ORPHA:443328 Focal stiff-person syndrome Stiff leg syndrome A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin. Orphanet ICD-10:G25.8 MedDRA:10079359 OMIM:184850 UMLS:C4324606 Not applicable Adult Europe AND has_point_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443804 Focal stiff limb syndrome Clinical subtype ORPHA:443804 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10079359 E (Exact mapping: the two concepts are equivalent) OMIM:184850 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4324606 E (Exact mapping: the two concepts are equivalent) CID due to PGM3 deficiency Combined immunodeficiency due to PGM3 deficiency PGM3-related congenital disorder of glycosylation A rare congenital disorder of glycosylation caused by mutations in the <i>PGM3</i> gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. Orphanet ICD-10:E77.8 OMIM:615816 UMLS:C4014371 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443811 PGM3-CDG ORPHA:443811 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615816 E (Exact mapping: the two concepts are equivalent) UMLS:C4014371 E (Exact mapping: the two concepts are equivalent) Familial nonpolyposis colon cancer Familial nonpolyposis colorectal cancer HNPCC Hereditary nonpolyposis colorectal cancer A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. Orphanet UMLS:C1333990 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443909 Hereditary nonpolyposis colon cancer Clinical group ORPHA:443909 UMLS:C1333990 E (Exact mapping: the two concepts are equivalent) DNAJB2-related CMT2 A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. Orphanet ICD-10:G60.0 OMIM:614881 UMLS:C5569053 Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 ORPHA:443950 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614881 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5569053 E (Exact mapping: the two concepts are equivalent) Congenital nephrosis-cerebral ventriculomegaly syndrome VMCKD A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others. Orphanet ICD-10:Q04.8 MeSH:C565657 OMIM:219730 UMLS:C1857423 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443988 Ventriculomegaly-cystic kidney disease ORPHA:443988 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565657 E (Exact mapping: the two concepts are equivalent) OMIM:219730 E (Exact mapping: the two concepts are equivalent) UMLS:C1857423 E (Exact mapping: the two concepts are equivalent) MFDA A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. Orphanet ICD-10:Q75.4 OMIM:616367 UMLS:C4225349 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=443995 Mandibulofacial dysostosis with alopecia ORPHA:443995 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616367 E (Exact mapping: the two concepts are equivalent) UMLS:C4225349 E (Exact mapping: the two concepts are equivalent) Hypotrichosis, Marie Unna type MUHH Marie Unna congenital hypotrichosis A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. Orphanet ICD-10:Q84.0 ICD-11:EC21.2 MeSH:C535912 OMIM:146550 OMIM:612841 UMLS:C2931059 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444 Marie Unna hereditary hypotrichosis ORPHA:444 ICD-10:Q84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535912 E (Exact mapping: the two concepts are equivalent) OMIM:146550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612841 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931059 E (Exact mapping: the two concepts are equivalent) Del(11)(q22.2q22.3) Monosomy 11q22.2q22.3 A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. Orphanet ICD-10:Q93.5 UMLS:C5680062 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444002 11q22.2q22.3 microdeletion syndrome ORPHA:444002 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680062 E (Exact mapping: the two concepts are equivalent) COXPD23 A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem. Orphanet ICD-10:E88.8 OMIM:616198 UMLS:C5567743 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444013 Combined oxidative phosphorylation defect type 23 ORPHA:444013 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616198 E (Exact mapping: the two concepts are equivalent) UMLS:C5567743 E (Exact mapping: the two concepts are equivalent) A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype. Orphanet ICD-10:Q96.8 OMIM:616185 UMLS:C4015409 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444048 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048 ICD-10:Q96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616185 E (Exact mapping: the two concepts are equivalent) UMLS:C4015409 E (Exact mapping: the two concepts are equivalent) Del(20)(q11.2) Monosomy 20q11 A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. Orphanet ICD-10:Q93.5 UMLS:C5680063 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444051 20q11.2 microdeletion syndrome ORPHA:444051 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680063 E (Exact mapping: the two concepts are equivalent) A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth). Orphanet ICD-10:Q87.8 OMIM:243605 UMLS:C5681197 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:243605 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C5681197 E (Exact mapping: the two concepts are equivalent) Cerebellofaciodental syndrome A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies. Orphanet ICD-10:Q87.0 OMIM:616202 UMLS:C4015495 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444072 Cerebellar-facial-dental syndrome ORPHA:444072 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616202 E (Exact mapping: the two concepts are equivalent) UMLS:C4015495 E (Exact mapping: the two concepts are equivalent) CHOPS syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux. Orphanet ICD-10:Q87.8 OMIM:616368 UMLS:C4085597 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616368 E (Exact mapping: the two concepts are equivalent) UMLS:C4085597 E (Exact mapping: the two concepts are equivalent) 3p25.3 CIDE-3 FLJ20871 Fsp27 ClinVar:CIDEC Ensembl:ENSG00000187288 Genatlas:CIDEC HGNC:24229 OMIM:612120 Reactome:Q96AQ7 SwissProt:Q96AQ7 CIDEC cell death inducing DFFA like effector c COPA syndrome A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. Orphanet ICD-10:J84.8 MedDRA:10083948 OMIM:616414 UMLS:C5243948 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444092 Autoimmune interstitial lung disease-arthritis syndrome ORPHA:444092 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10083948 E (Exact mapping: the two concepts are equivalent) OMIM:616414 E (Exact mapping: the two concepts are equivalent) UMLS:C5243948 E (Exact mapping: the two concepts are equivalent) SPG73 A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. Orphanet ICD-10:G11.4 ICD-11:8B44.00 OMIM:616282 UMLS:C5568981 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444099 Autosomal dominant spastic paraplegia type 73 ORPHA:444099 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616282 E (Exact mapping: the two concepts are equivalent) UMLS:C5568981 E (Exact mapping: the two concepts are equivalent) 19q13.2 HSL ClinVar:LIPE Ensembl:ENSG00000079435 Genatlas:LIPE HGNC:6621 IUPHAR:2593 OMIM:151750 Reactome:Q05469 SwissProt:Q05469 LIPE lipase E, hormone sensitive type 11p15.1 Kv3.1 ClinVar:KCNC1 Ensembl:ENSG00000129159 Genatlas:KCNC1 HGNC:6233 IUPHAR:548 OMIM:176258 Reactome:P48547 SwissProt:P48547 KCNC1 potassium voltage-gated channel subfamily C member 1 ICD-11:5D00.2 MeSH:D028226 MedDRA:10016202 UMLS:C0740340 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444116 Hereditary amyloidosis Category ORPHA:444116 ICD-11:5D00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D028226 E (Exact mapping: the two concepts are equivalent) MedDRA:10016202 E (Exact mapping: the two concepts are equivalent) UMLS:C0740340 E (Exact mapping: the two concepts are equivalent) PLACK syndrome A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis. Orphanet ICD-10:Q82.8 OMIM:616295 UMLS:C4225381 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome ORPHA:444138 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616295 E (Exact mapping: the two concepts are equivalent) UMLS:C4225381 E (Exact mapping: the two concepts are equivalent) 21q22.13 BIR1 G protein-activated inward rectifier potassium channel 2 GIRK2 KATP2 Kir3.2 hiGIRK2 ClinVar:KCNJ6 Ensembl:ENSG00000157542 Genatlas:KCNJ6 HGNC:6267 IUPHAR:435 OMIM:600877 Reactome:P48051 SwissProt:P48051 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 Idiopathic phalangeal acroosteolysis A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies). Orphanet ICD-10:M89.5 UMLS:C5680064 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444316 Idiopathic phalangeal acro-osteolysis ORPHA:444316 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680064 E (Exact mapping: the two concepts are equivalent) COXPD24 Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:616239 UMLS:C4015643 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444458 Combined oxidative phosphorylation defect type 24 ORPHA:444458 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616239 E (Exact mapping: the two concepts are equivalent) UMLS:C4015643 E (Exact mapping: the two concepts are equivalent) Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II Evans syndrome associated with primary immunodeficiency TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease TRIANGLE disease A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia. Orphanet ICD-10:D89.8 OMIM:619220 UMLS:C5543159 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency ORPHA:444463 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619220 E (Exact mapping: the two concepts are equivalent) UMLS:C5543159 E (Exact mapping: the two concepts are equivalent) A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis. Orphanet ICD-10:E78.3 OMIM:118830 OMIM:207750 OMIM:238600 OMIM:615947 UMLS:C5442313 Autosomal recessive Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 0.97 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444490 Familial chylomicronemia syndrome ORPHA:444490 ICD-10:E78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:118830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:207750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:238600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615947 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5442313 E (Exact mapping: the two concepts are equivalent) 2q37.3 CFAP116 DKFZP434F124 FAP116 IFT54 MIP-T3 MIPT3 microtubule interacting protein that associates with TRAF3 ClinVar:TRAF3IP1 Ensembl:ENSG00000204104 Genatlas:TRAF3IP1 HGNC:17861 OMIM:607380 Reactome:Q8TDR0 SwissProt:Q8TDR0 TRAF3IP1 TRAF3 interacting protein 1 1q21.3 HUMPMKI PMK PMKA ClinVar:PMVK Ensembl:ENSG00000163344 Genatlas:PMVK HGNC:9141 IUPHAR:641 OMIM:607622 Reactome:Q15126 SwissProt:Q15126 PMVK phosphomevalonate kinase 16q24.2 MPD diphosphomevalonate decarboxylase mevalonate pyrophosphate decarboxylase ClinVar:MVD Ensembl:ENSG00000167508 Genatlas:MVD HGNC:7529 IUPHAR:642 OMIM:603236 Reactome:P53602 SwissProt:P53602 MVD mevalonate diphosphate decarboxylase 1q22 farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase ClinVar:FDPS Ensembl:ENSG00000160752 Genatlas:FDPS HGNC:3631 IUPHAR:644 OMIM:134629 Reactome:P14324 SwissProt:P14324 FDPS farnesyl diphosphate synthase 7p22.3 BRCA1-associated protein required for ATM activation protein 1 MGC22916 ClinVar:C7orf27 Ensembl:ENSG00000106009 Genatlas:C7orf27 HGNC:21701 OMIM:614506 Reactome:Q6PJG6 SwissProt:Q6PJG6 BRAT1 BRCA1 associated ATM activator 1 12q24.31 COX6AL cytochrome c oxidase subunit VIa liver isoform ClinVar:COX6A1 Ensembl:ENSG00000111775 Genatlas:COX6A1 HGNC:2277 OMIM:602072 Reactome:P12074 SwissProt:P12074 COX6A1 cytochrome c oxidase subunit 6A1 14q32.33 APOP-1 MGC2562 apoptogenic protein 1 ClinVar:APOPT1 Ensembl:ENSG00000256053 Genatlas:APOPT1 HGNC:20492 OMIM:616003 SwissProt:Q96IL0 COA8 cytochrome c oxidase assembly factor 8 1q32.1 ClinVar:SYT2 Ensembl:ENSG00000143858 Genatlas:SYT2 HGNC:11510 OMIM:600104 Reactome:Q8N9I0 SwissProt:Q8N9I0 SYT2 synaptotagmin 2 14q24.1 ARSDR1 MDT1 SDR7C1 androgen-regulated short-chain dehydrogenase/reductase 1 short chain dehydrogenase/reductase family 7C, member 1 ClinVar:RDH11 Ensembl:ENSG00000072042 Genatlas:RDH11 HGNC:17964 OMIM:607849 Reactome:Q8TC12 SwissProt:Q8TC12 RDH11 retinol dehydrogenase 11 1p31.1 CARK ClinVar:TNNI3K Ensembl:ENSG00000116783 Genatlas:TNNI3K HGNC:19661 IUPHAR:2247 OMIM:613932 Reactome:Q59H18 SwissProt:Q59H18 TNNI3K TNNI3 interacting kinase 8q24.13 FLJ32440 MMS21 NSE2 ZMIZ7 zinc finger, MIZ-type containing 7 ClinVar:NSMCE2 Ensembl:ENSG00000156831 Genatlas:NSMCE2 HGNC:26513 OMIM:617246 Reactome:Q96MF7 SwissProt:Q96MF7 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase 1q41 FLJ10326 isoleucine tRNA ligase 2, mitochondrial ClinVar:IARS2 Ensembl:ENSG00000067704 Genatlas:IARS2 HGNC:29685 OMIM:612801 Reactome:Q9NSE4 SwissProt:Q9NSE4 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 2p22.3 CLAN CLAN1 CLANA CLANB CLANC CLAND CLR2.1 NOD-like receptor C4 ipaf nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 ClinVar:NLRC4 Ensembl:ENSG00000091106 Genatlas:NLRC4 HGNC:16412 IUPHAR:1782 OMIM:606831 Reactome:Q9NPP4 SwissProt:Q9NPP4 NLRC4 NLR family CARD domain containing 4 10p15.3 BRAM1 BS69 ClinVar:ZMYND11 Ensembl:ENSG00000015171 Genatlas:ZMYND11 HGNC:16966 IUPHAR:2782 OMIM:608668 Reactome:Q15326 SwissProt:Q15326 ZMYND11 zinc finger MYND-type containing 11 1q32.1 KIAA0042 ClinVar:KIF14 Ensembl:ENSG00000118193 Genatlas:KIF14 HGNC:19181 OMIM:611279 Reactome:Q15058 SwissProt:Q15058 KIF14 kinesin family member 14 3p24.3 NY-BR-85 ClinVar:SGOL1 Ensembl:ENSG00000129810 Genatlas:SGOL1 HGNC:25088 OMIM:609168 Reactome:Q5FBB7 SwissProt:Q5FBB7 SGO1 shugoshin 1 1q42.2 DKFZP547N043 DNA damage-targeting VCP (p97) adaptor DVC1 Spartan SprT-like domain at the N terminus ClinVar:SPRTN Ensembl:ENSG00000010072 Genatlas:SPRTN HGNC:25356 OMIM:616086 Reactome:Q9H040 SwissProt:Q9H040 SPRTN SprT-like N-terminal domain 1q42.2 ClinVar:COG2 Ensembl:ENSG00000135775 Genatlas:COG2 HGNC:6546 OMIM:606974 Reactome:Q14746 SwissProt:Q14746 COG2 component of oligomeric golgi complex 2 MeSH:D011546 MedDRA:10080593 UMLS:C0033805 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444916 Pseudohypoaldosteronism Clinical group ORPHA:444916 MeSH:D011546 E (Exact mapping: the two concepts are equivalent) MedDRA:10080593 E (Exact mapping: the two concepts are equivalent) UMLS:C0033805 E (Exact mapping: the two concepts are equivalent) 2p11.2 ribose 5-phosphate epimerase ClinVar:RPIA Ensembl:ENSG00000153574 Genatlas:RPIA HGNC:10297 OMIM:180430 Reactome:P49247 SwissProt:P49247 RPIA ribose 5-phosphate isomerase A 17p13.2 SHK ClinVar:SHPK Ensembl:ENSG00000197417 Genatlas:SHPK HGNC:1492 OMIM:605060 Reactome:Q9UHJ6 SwissProt:Q9UHJ6 SHPK sedoheptulokinase A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. Orphanet UMLS:C5681198 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=444941 Caudal regression-sirenomelia spectrum Clinical group ORPHA:444941 UMLS:C5681198 E (Exact mapping: the two concepts are equivalent) 20q13.12 K-Cl cotransporter 2 KCC2 KIAA1176 hKCC2 ClinVar:SLC12A5 Ensembl:ENSG00000124140 Genatlas:SLC12A5 HGNC:13818 IUPHAR:972 OMIM:606726 Reactome:Q9H2X9 SwissProt:Q9H2X9 SLC12A5 solute carrier family 12 member 5 CID due to LRBA deficiency A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia. Orphanet ICD-10:D81.8 ICD-11:4A01.21 OMIM:614700 UMLS:C3553512 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=445018 Combined immunodeficiency due to LRBA deficiency ORPHA:445018 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614700 E (Exact mapping: the two concepts are equivalent) UMLS:C3553512 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconic aciduria type 7 MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome MGA7 A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:616271 OMIM:619835 UMLS:C4225393 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616271 E (Exact mapping: the two concepts are equivalent) OMIM:619835 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4225393 E (Exact mapping: the two concepts are equivalent) Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. Orphanet ICD-10:G31.8 OMIM:616192 UMLS:C4015436 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616192 E (Exact mapping: the two concepts are equivalent) UMLS:C4015436 E (Exact mapping: the two concepts are equivalent) 12q24.33 LEM domain containing 7 LEM-domain protein 4 LEMD7 Lem4 ClinVar:ANKLE2 Ensembl:ENSG00000176915 Genatlas:ANKLE2 HGNC:29101 OMIM:616062 Reactome:Q86XL3 SwissProt:Q86XL3 ANKLE2 ankyrin repeat and LEM domain containing 2 LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. Orphanet ICD-10:G71.0 ICD-11:8C70.41 OMIM:616094 UMLS:C4015184 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=445110 Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616094 E (Exact mapping: the two concepts are equivalent) UMLS:C4015184 E (Exact mapping: the two concepts are equivalent) 15q25.2 CPD Cupidin DFNA68 HOMER-2 HOMER-2A HOMER-2B Vesl-2 ClinVar:HOMER2 Ensembl:ENSG00000103942 Genatlas:HOMER2 HGNC:17513 OMIM:604799 Reactome:Q9NSB8 SwissProt:Q9NSB8 HOMER2 homer scaffold protein 2 UMLS:C5681200 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=445197 Secondary vasculitis Category ORPHA:445197 UMLS:C5681200 E (Exact mapping: the two concepts are equivalent) 10q26.2 ClinVar:MMP21 Ensembl:ENSG00000154485 Genatlas:MMP21 HGNC:14357 IUPHAR:1644 OMIM:608416 SwissProt:Q8N119 MMP21 matrix metallopeptidase 21 11p13 DIPB MC7 ClinVar:TRIM44 Ensembl:ENSG00000166326 Genatlas:TRIM44 HGNC:19016 OMIM:612298 Reactome:Q96DX7 SwissProt:Q96DX7 TRIM44 tripartite motif containing 44 22q12.1 MGCR1 MGCR1-PEN probable tumor suppressor protein MN1 ClinVar:MN1 Ensembl:ENSG00000169184 Genatlas:MN1 HGNC:7180 OMIM:156100 SwissProt:Q10571 MN1 MN1 proto-oncogene, transcriptional regulator A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin. Orphanet ICD-10:E83.1 ICD-11:5C64.10 MeSH:C536394 MedDRA:10078355 OMIM:231100 UMLS:C0268059 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=446 Neonatal hemochromatosis ORPHA:446 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536394 E (Exact mapping: the two concepts are equivalent) MedDRA:10078355 E (Exact mapping: the two concepts are equivalent) OMIM:231100 E (Exact mapping: the two concepts are equivalent) UMLS:C0268059 E (Exact mapping: the two concepts are equivalent) 1p13.3 HK4 Kv1.2 ClinVar:KCNA2 Ensembl:ENSG00000177301 Genatlas:KCNA2 HGNC:6220 IUPHAR:539 OMIM:176262 Reactome:P16389 SwissProt:P16389 KCNA2 potassium voltage-gated channel subfamily A member 2 20q13.33 EEF1AL HS1 ClinVar:EEF1A2 Ensembl:ENSG00000101210 Genatlas:EEF1A2 HGNC:3192 OMIM:602959 Reactome:Q05639 SwissProt:Q05639 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 17q25.3 GGR ClinVar:GCGR Ensembl:ENSG00000215644 Genatlas:GCGR HGNC:4192 IUPHAR:251 OMIM:138033 Reactome:P47871 SwissProt:P47871 GCGR glucagon receptor 6q14.1 AGM1 DKFZP434B187 PAGM acetylglucosamine phosphomutase phosphoacetylglucosamine mutase ClinVar:PGM3 Ensembl:ENSG00000013375 Genatlas:PGM3 HGNC:8907 OMIM:172100 Reactome:O95394 SwissProt:O95394 PGM3 phosphoglucomutase 3 9q21.11 PKACg ClinVar:PRKACG Ensembl:ENSG00000165059 Genatlas:PRKACG HGNC:9382 IUPHAR:1478 OMIM:176893 Reactome:P22612 SwissProt:P22612 PRKACG protein kinase cAMP-activated catalytic subunit gamma 11p15.3 FLJ22728 SDR10E1 short chain dehydrogenase/reductase family 10E, member 1 ClinVar:FAR1 Ensembl:ENSG00000197601 Genatlas:FAR1 HGNC:26222 OMIM:616107 Reactome:Q8WVX9 SwissProt:Q8WVX9 FAR1 fatty acyl-CoA reductase 1 Marchiafava-Micheli disease PNH Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. Orphanet ICD-10:D59.5 ICD-11:3A21.0 MeSH:D006457 MedDRA:10034042 OMIM:300818 OMIM:615399 UMLS:C0024790 Not applicable All ages Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 3.81 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447 Paroxysmal nocturnal hemoglobinuria ORPHA:447 ICD-10:D59.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006457 E (Exact mapping: the two concepts are equivalent) MedDRA:10034042 E (Exact mapping: the two concepts are equivalent) OMIM:300818 E (Exact mapping: the two concepts are equivalent) OMIM:615399 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024790 E (Exact mapping: the two concepts are equivalent) 3p25.3 PMCA2 plasma membrane Ca2+ pump 2 plasma membrane calcium-transporting ATPase 2 ClinVar:ATP2B2 Ensembl:ENSG00000157087 Genatlas:ATP2B2 HGNC:815 IUPHAR:844 OMIM:108733 Reactome:Q01814 SwissProt:Q01814 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 Primary immunodeficiency with multifaceted aberrant lymphoid immunity A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:620449 UMLS:C5680065 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447731 NIK deficiency ORPHA:447731 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620449 E (Exact mapping: the two concepts are equivalent) UMLS:C5680065 E (Exact mapping: the two concepts are equivalent) CID due to DOCK2 deficiency Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:616433 UMLS:C4225328 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447737 Combined immunodeficiency due to DOCK2 deficiency ORPHA:447737 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616433 E (Exact mapping: the two concepts are equivalent) UMLS:C4225328 E (Exact mapping: the two concepts are equivalent) AgP Juvenile periodontitis Susceptibility to localized juvenile periodontitis A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss. Orphanet ICD-10:D71 UMLS:C5681199 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447740 Aggressive periodontitis ORPHA:447740 ICD-10:D71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681199 E (Exact mapping: the two concepts are equivalent) AD-SPG9A Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others. Orphanet ICD-10:G11.4 ICD-11:8B44.00 OMIM:601162 UMLS:C5568978 Autosomal dominant Adolescent Adult Infancy Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447753 Autosomal dominant spastic paraplegia type 9A ORPHA:447753 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601162 E (Exact mapping: the two concepts are equivalent) UMLS:C5568978 E (Exact mapping: the two concepts are equivalent) AD-SPG9B A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Orphanet ICD-10:G11.4 ICD-11:8B44.00 UMLS:C5568979 Autosomal dominant Adolescent Adult Infancy Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447757 Autosomal dominant spastic paraplegia type 9B ORPHA:447757 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568979 E (Exact mapping: the two concepts are equivalent) AR-SPG9B A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. Orphanet ICD-10:G11.4 ICD-11:8B44.00 OMIM:616586 UMLS:C5568980 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447760 Autosomal recessive spastic paraplegia type 9B ORPHA:447760 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616586 E (Exact mapping: the two concepts are equivalent) UMLS:C5568980 E (Exact mapping: the two concepts are equivalent) A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis. Orphanet ICD-10:K83.0 ICD-11:4A43.0 UMLS:C4302109 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447764 IgG4-related sclerosing cholangitis Clinical subtype ORPHA:447764 ICD-10:K83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302109 E (Exact mapping: the two concepts are equivalent) MeSH:D015209 MedDRA:10008609 UMLS:C0008313 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447771 Sclerosing cholangitis Clinical group ORPHA:447771 MeSH:D015209 E (Exact mapping: the two concepts are equivalent) MedDRA:10008609 E (Exact mapping: the two concepts are equivalent) UMLS:C0008313 E (Exact mapping: the two concepts are equivalent) A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection. Orphanet ICD-10:K83.0 ICD-11:DC13 UMLS:C0400978 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447774 Secondary sclerosing cholangitis ORPHA:447774 ICD-10:K83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DC13 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0400978 E (Exact mapping: the two concepts are equivalent) KTOC Odontogenic keratocystoma A rare odontogenic tumor characterized by an unilocular or multilocular cyst most commonly located in the posterior body and lower ramus of the mandible, often surrounding the crown of the third molar. Histopathologically, the lesion shows a lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. Patients may be asymptomatic or present with local infection and/or signs and symptoms of mass effect. Recurrence is rare after complete surgical removal. Some patients have multiple cysts (metachronous or synchronous), especially in the context of nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet ICD-10:D16.4 ICD-11:2E83.1 ICD-11:2E83.Z UMLS:C1708604 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447777 Keratocystic odontogenic tumor ORPHA:447777 ICD-10:D16.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2E83.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1708604 E (Exact mapping: the two concepts are equivalent) A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip). Orphanet ICD-10:E74.4 ICD-11:5C53.0Y OMIM:614741 UMLS:C3553607 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447784 Mitochondrial pyruvate carrier deficiency ORPHA:447784 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614741 E (Exact mapping: the two concepts are equivalent) UMLS:C3553607 E (Exact mapping: the two concepts are equivalent) Cortical visual impairment A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention. Orphanet ICD-10:H47.6 UMLS:C3810365 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447788 Cerebral visual impairment ORPHA:447788 ICD-10:H47.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3810365 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare hereditary hemochromatosis OBSOLETE: Hemochromatosis type 5 ORPHA:447792 A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others. Orphanet ICD-10:E88.8 OMIM:617668 UMLS:C5681203 No data available No data available Worldwide https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447795 Lipoyl transferase 2 deficiency ORPHA:447795 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617668 E (Exact mapping: the two concepts are equivalent) UMLS:C5681203 E (Exact mapping: the two concepts are equivalent) UMLS:C5681202 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447874 Biological anomaly without phenotypic characterization Category ORPHA:447874 UMLS:C5681202 E (Exact mapping: the two concepts are equivalent) PPAP ICD-10:D12.6 OMIM:612591 OMIM:615083 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447877 Polymerase proofreading-related adenomatous polyposis Clinical subtype ORPHA:447877 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612591 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615083 BTNT (ORPHAcode is broader than the targeted code used to represent it) Isolated neck extensor myopathy A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop. Orphanet ICD-10:G72.8 UMLS:C5680066 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447881 Idiopathic dropped head syndrome ORPHA:447881 ICD-10:G72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680066 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 OMIM:607694 UMLS:C5681201 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Clinical subtype ORPHA:447893 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607694 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681201 E (Exact mapping: the two concepts are equivalent) TACH syndrome ICD-10:E75.2 OMIM:607694 UMLS:C5680067 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447896 Tremor-ataxia-central hypomyelination syndrome Clinical subtype ORPHA:447896 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607694 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680067 E (Exact mapping: the two concepts are equivalent) 10q22.1 ClinVar:COL13A1 Ensembl:ENSG00000197467 Genatlas:COL13A1 HGNC:2190 OMIM:120350 Reactome:Q5TAT6 SwissProt:Q5TAT6 COL13A1 collagen type XIII alpha 1 chain COXPD25 Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:616430 UMLS:C5567742 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447954 Combined oxidative phosphorylation defect type 25 ORPHA:447954 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616430 E (Exact mapping: the two concepts are equivalent) UMLS:C5567742 E (Exact mapping: the two concepts are equivalent) A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. Orphanet ICD-10:D04.8 OMIM:618373 UMLS:C5681108 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961 ICD-10:D04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618373 E (Exact mapping: the two concepts are equivalent) UMLS:C5681108 E (Exact mapping: the two concepts are equivalent) Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation CMT2V Hereditary adult-onset painful axonal polyneuropathy A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. Orphanet ICD-10:G60.0 OMIM:616491 UMLS:C5569050 Autosomal dominant Adolescent Adult Elderly Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V ORPHA:447964 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616491 E (Exact mapping: the two concepts are equivalent) UMLS:C5569050 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. Orphanet ICD-10:Q76.1 OMIM:616549 UMLS:C4225285 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ORPHA:447974 ICD-10:Q76.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616549 E (Exact mapping: the two concepts are equivalent) UMLS:C4225285 E (Exact mapping: the two concepts are equivalent) A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei. Orphanet ICD-10:G71.0 OMIM:616852 UMLS:C4225181 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447977 Progressive scapulohumeroperoneal distal myopathy ORPHA:447977 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616852 E (Exact mapping: the two concepts are equivalent) UMLS:C4225181 E (Exact mapping: the two concepts are equivalent) Dup(19)(p13.3) A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. Orphanet ICD-10:Q92.3 UMLS:C5679996 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447980 19p13.3 microduplication syndrome ORPHA:447980 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679996 E (Exact mapping: the two concepts are equivalent) Partial duplication of chromosome 19p Partial trisomy of chromosome 19p Partial trisomy of the short arm of chromosome 19 UMLS:C4518508 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447985 Partial duplication of the short arm of chromosome 19 syndrome Category ORPHA:447985 UMLS:C4518508 E (Exact mapping: the two concepts are equivalent) ASCT1 deficiency Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy. Orphanet ICD-10:Q02 OMIM:616657 UMLS:C4225254 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616657 E (Exact mapping: the two concepts are equivalent) UMLS:C4225254 E (Exact mapping: the two concepts are equivalent) A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. Orphanet MedDRA:10061992 UMLS:C0684275 X-linked recessive Antenatal Infancy Neonatal China AND has_point_prevalence_average_value : 6.46 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 6.25 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 7.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448 Hemophilia Clinical group ORPHA:448 MedDRA:10061992 E (Exact mapping: the two concepts are equivalent) UMLS:C0684275 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Iz CDG-Iz CDG1Z Carbohydrate deficient glycoprotein syndrome type Iz Congenital disorder of glycosylation type 1z A rare congenital disorder of glycosylation caused by mutations in the <i>CAD</i> gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Orphanet ICD-10:E77.8 ICD-11:5C54.2 OMIM:616457 UMLS:C4225320 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448010 CAD-CDG ORPHA:448010 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616457 E (Exact mapping: the two concepts are equivalent) UMLS:C4225320 E (Exact mapping: the two concepts are equivalent) Zika virus infection Zika virus disease is an emerging <i>Aedes</i> mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. Orphanet ICD-10:A92.5 ICD-11:1D48 MeSH:D000071243 MedDRA:10078205 UMLS:C0276289 Not applicable All ages Brazil AND has_annual_incidence_average_value : 58.8 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448237 Zika virus disease ORPHA:448237 ICD-10:A92.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D48 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000071243 E (Exact mapping: the two concepts are equivalent) MedDRA:10078205 E (Exact mapping: the two concepts are equivalent) UMLS:C0276289 E (Exact mapping: the two concepts are equivalent) Brachyolmia, Hobaek/Toledo type Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Orphanet ICD-10:Q76.3 ICD-11:LD24.5Y OMIM:271530 OMIM:271630 UMLS:C4760908 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448242 Autosomal recessive brachyolmia ORPHA:448242 ICD-10:Q76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:271530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:271630 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4760908 E (Exact mapping: the two concepts are equivalent) Lichtenstein-Knorr syndrome Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome SCAR19 A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. Orphanet ICD-10:G11.1 OMIM:616291 UMLS:C4225383 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448251 Progressive autosomal recessive ataxia-deafness syndrome ORPHA:448251 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616291 E (Exact mapping: the two concepts are equivalent) UMLS:C4225383 E (Exact mapping: the two concepts are equivalent) A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis. Orphanet ICD-10:L98.8 OMIM:613000 OMIM:616400 UMLS:C5681107 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448264 Isolated focal non-epidermolytic palmoplantar keratoderma ORPHA:448264 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681107 E (Exact mapping: the two concepts are equivalent) A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease. Orphanet ICD-10:Q77.8 OMIM:618019 UMLS:C4747922 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448267 Regressive spondylometaphyseal dysplasia ORPHA:448267 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618019 E (Exact mapping: the two concepts are equivalent) UMLS:C4747922 E (Exact mapping: the two concepts are equivalent) A rare, life-threatening, congenital non-syndromic heart malformation characterized by complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations. Orphanet ICD-10:Q24.8 ICD-11:LA80.3 MeSH:D054083 MedDRA:10014144 UMLS:C0013580 Not applicable Antenatal Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448270 Ectopia cordis ORPHA:448270 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA80.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054083 E (Exact mapping: the two concepts are equivalent) MedDRA:10014144 E (Exact mapping: the two concepts are equivalent) UMLS:C0013580 E (Exact mapping: the two concepts are equivalent) 10q23.31 ALRP C-193 CARP CVARP MCARP ClinVar:ANKRD1 Ensembl:ENSG00000148677 Genatlas:ANKRD1 HGNC:15819 OMIM:609599 Reactome:Q15327 SwissProt:Q15327 ANKRD1 ankyrin repeat domain 1 18q12.1-q12.2 APC-binding protein EB1 EB1 EB2 RP1 ClinVar:MAPRE2 Ensembl:ENSG00000166974 Genatlas:MAPRE2 HGNC:6891 OMIM:605789 Reactome:Q15555 SwissProt:Q15555 MAPRE2 microtubule associated protein RP/EB family member 2 OBSOLETE: Familial infantile gigantism due to a point mutation OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked acrogigantism OBSOLETE: X-linked acrogigantism due to a point mutation ORPHA:448348 6p21.33 M40 MGC16435 OK/SW-cl.56 Tubb5 beta1-tubulin class I beta-tubulin ClinVar:TUBB Ensembl:ENSG00000196230 Genatlas:TUBB HGNC:20778 IUPHAR:2640 OMIM:191130 Reactome:P07437 SwissProt:P07437 TUBB tubulin beta class I OBSOLETE: Familial infantile gigantism due to Xq26 microduplication OBSOLETE: Familial infantile gigantism due to dup(X)q(26) OBSOLETE: X-LAG due to dup(X)q(26) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked acrogigantism OBSOLETE: X-linked acrogigantism due to Xq26 microduplication ORPHA:448372 UMLS:C5681106 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=448426 Genetic primary orthostatic hypotension Category ORPHA:448426 UMLS:C5681106 E (Exact mapping: the two concepts are equivalent) 2q22.1 HMT ClinVar:HNMT Ensembl:ENSG00000150540 Genatlas:HNMT HGNC:5028 OMIM:605238 Reactome:P50135 SwissProt:P50135 HNMT histamine N-methyltransferase 6q24.3-q25.1 KIAA0790 SH3D6A dJ323M4.1 ClinVar:SASH1 Ensembl:ENSG00000111961 Genatlas:SASH1 HGNC:19182 OMIM:607955 SwissProt:O94885 SASH1 SAM and SH3 domain containing 1 12q13.3 APOER CD91 LRP LRP1A transforming growth factor-alpha receptor type V transforming growth factor-ß receptor type V ClinVar:LRP1 Ensembl:ENSG00000123384 Genatlas:LRP1 HGNC:6692 OMIM:107770 Reactome:Q07954 SwissProt:Q07954 LRP1 LDL receptor related protein 1 1p36.22 CD120b TNF-R-II TNF-R75 TNFBR TNFR80 p75 ClinVar:TNFRSF1B Ensembl:ENSG00000028137 Genatlas:TNFRSF1B HGNC:11917 IUPHAR:1871 OMIM:191191 Reactome:P20333 SwissProt:P20333 TNFRSF1B TNF receptor superfamily member 1B 2q33.2 T-cell-specific surface glycoprotein ClinVar:CD28 Ensembl:ENSG00000178562 Genatlas:CD28 HGNC:1653 IUPHAR:2863 OMIM:186760 Reactome:P10747 SwissProt:P10747 CD28 CD28 molecule 4q31.22-q31.23 ET-A ETA-R hET-AR ClinVar:EDNRA Ensembl:ENSG00000151617 Genatlas:EDNRA HGNC:3179 IUPHAR:219 OMIM:131243 Reactome:P25101 SwissProt:P25101 EDNRA endothelin receptor type A 19p13.11 FLJ14700 GTPBG3 MSS1 MTGP1 THDF1 ClinVar:GTPBP3 Ensembl:ENSG00000130299 Genatlas:GTPBP3 HGNC:14880 OMIM:608536 Reactome:Q969Y2 SwissProt:Q969Y2 GTPBP3 GTP binding protein 3, mitochondrial 16q21 ClinVar:KATNB1 Ensembl:ENSG00000140854 Genatlas:KATNB1 HGNC:6217 OMIM:602703 SwissProt:Q9BVA0 KATNB1 katanin regulatory subunit B1 6q22.31 FLJ20170 MGC35304 dJ329L24.3 ClinVar:MCM9 Ensembl:ENSG00000111877 Genatlas:MCM9 HGNC:21484 OMIM:610098 SwissProt:Q9NXL9 MCM9 minichromosome maintenance 9 homologous recombination repair factor 1q41 hcp-1 mitosin ClinVar:CENPF Ensembl:ENSG00000117724 Genatlas:CENPF HGNC:1857 OMIM:600236 Reactome:P49454 SwissProt:P49454 CENPF centromere protein F 14q32.33 BRF TFIIIB90 hBRF ClinVar:BRF1 Ensembl:ENSG00000185024 Genatlas:BRF1 HGNC:11551 OMIM:604902 Reactome:Q92994 SwissProt:Q92994 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit 5q31.1 AF5Q31 ALL1 fused gene from 5q31 MCEF ClinVar:AFF4 Ensembl:ENSG00000072364 Genatlas:AFF4 HGNC:17869 OMIM:604417 Reactome:Q9UHB7 SwissProt:Q9UHB7 AFF4 ALF transcription elongation factor 4 1q23.2 HEP-COP proxenin xenin ClinVar:COPA Ensembl:ENSG00000122218 Genatlas:COPA HGNC:2230 OMIM:601924 Reactome:P53621 SwissProt:P53621 COPA COPI coat complex subunit alpha 19q13.33 CATL1 CPT1P CPTIC FLJ23809 ClinVar:CPT1C Ensembl:ENSG00000169169 Genatlas:CPT1C HGNC:18540 IUPHAR:3251 OMIM:608846 SwissProt:Q8TCG5 CPT1C carnitine palmitoyltransferase 1C 5q15 ClinVar:CAST Ensembl:ENSG00000153113 Genatlas:CAST HGNC:1515 OMIM:114090 Reactome:P20810 SwissProt:P20810 CAST calpastatin 13q33.1 TPPII ClinVar:TPP2 Ensembl:ENSG00000134900 Genatlas:TPP2 HGNC:12016 IUPHAR:2423 OMIM:190470 Reactome:P29144 SwissProt:P29144 TPP2 tripeptidyl peptidase 2 11q14.1 FLJ23441 SLM5 asparagine tRNA ligase 2, mitochondrial (putative) Ensembl:ENSG00000137513 HGNC:26274 OMIM:612803 Reactome:Q96I59 SwissProt:Q96I59 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial 6q25.3 cytovillin 2 ClinVar:EZR Ensembl:ENSG00000092820 Genatlas:EZR HGNC:12691 OMIM:123900 Reactome:P15311 SwissProt:P15311 EZR ezrin 12q23.2 ClinVar:SYCP3 Ensembl:ENSG00000139351 Genatlas:SYCP3 HGNC:18130 OMIM:604759 Reactome:Q8IZU3 SwissProt:Q8IZU3 SYCP3 synaptonemal complex protein 3 17q21.2 ClinVar:KRT25 Ensembl:ENSG00000204897 Genatlas:KRT25 HGNC:30839 OMIM:616646 Reactome:Q7Z3Z0 SwissProt:Q7Z3Z0 KRT25 keratin 25 3p21.31 RNF206 TRIP ring finger protein 206 ClinVar:TRAIP Ensembl:ENSG00000183763 Genatlas:TRAIP HGNC:30764 OMIM:605958 Reactome:Q9BWF2 SwissProt:Q9BWF2 TRAIP TRAF interacting protein 1p36.32 CFAP256 GlyBP JBTS25 ROC22 RP1-286D6.4 glycine, glutamate, thienylcyclohexylpiperidine binding protein ClinVar:CEP104 Ensembl:ENSG00000116198 Genatlas:CEP104 HGNC:24866 OMIM:616690 SwissProt:O60308 CEP104 centrosomal protein 104 16p12.1 JBTS26 KATNIP ClinVar:KIAA0556 Ensembl:ENSG00000047578 Genatlas:KIAA0556 HGNC:29068 OMIM:616650 SwissProt:O60303 KATNIP katanin interacting protein GIST Gastrointestinal stromal sarcoma Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1. Orphanet ICD-10:C26.9 ICD-11:2B5B ICD-11:XH9HQ1 MeSH:D046152 MedDRA:10051066 OMIM:175510 OMIM:606764 UMLS:C0238198 Autosomal dominant Not applicable Adolescent Adult Childhood Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000 Hong Kong AND has_annual_incidence_average_value : 1.82 AND has_annual_incidence_range : 1-9 / 100 000 Hong Kong AND has_point_prevalence_average_value : 14.5 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 12.9 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=44890 Gastrointestinal stromal tumor ORPHA:44890 ICD-10:C26.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B5B - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH9HQ1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D046152 E (Exact mapping: the two concepts are equivalent) MedDRA:10051066 E (Exact mapping: the two concepts are equivalent) OMIM:175510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606764 E (Exact mapping: the two concepts are equivalent) UMLS:C0238198 E (Exact mapping: the two concepts are equivalent) A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP). Orphanet ICD-10:C22.2 ICD-11:2C12.01 MeSH:D018197 MedDRA:10062001 OMIM:114550 UMLS:C0206624 Not applicable Childhood Infancy Neonatal Austria AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449 Hepatoblastoma ORPHA:449 ICD-10:C22.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C12.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018197 E (Exact mapping: the two concepts are equivalent) MedDRA:10062001 E (Exact mapping: the two concepts are equivalent) OMIM:114550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0206624 E (Exact mapping: the two concepts are equivalent) 3p21.31 CD191 CKR-1 MIP1aR ClinVar:CCR1 Ensembl:ENSG00000163823 Genatlas:CCR1 HGNC:1602 IUPHAR:58 OMIM:601159 Reactome:P32246 SwissProt:P32246 CCR1 C-C motif chemokine receptor 1 12p13.2 NKG2-F ClinVar:KLRC4 Ensembl:ENSG00000183542 Genatlas:KLRC4 HGNC:6377 OMIM:602893 SwissProt:O43908 KLRC4 killer cell lectin like receptor C4 3q25.33 ILAS1-AS1 Ensembl:ENSG00000244040 HGNC:49094 IL12A-AS1 IL12A antisense RNA 1 5q15 A-LAP ARTS-1 ERAAP1 KIAA0525 PILS-AP adipocyte-derived leucine aminopeptidase aminopeptidase regulator of TNFR1 shedding puromycin-insensitive leucyl-specific aminopeptidase ClinVar:ERAP1 Ensembl:ENSG00000164307 Genatlas:ERAP1 HGNC:18173 IUPHAR:1566 OMIM:606832 Reactome:Q9NZ08 SwissProt:Q9NZ08 ERAP1 endoplasmic reticulum aminopeptidase 1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Primary bile acid malabsorption ORPHA:449262 A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, chest pain, dyspnea, and fever. Orphanet ICD-10:J86.9 ICD-11:CA44 MeSH:D016724 UMLS:C0014013 Not applicable All ages Europe AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449266 Pleural empyema ORPHA:449266 ICD-10:J86.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016724 E (Exact mapping: the two concepts are equivalent) UMLS:C0014013 E (Exact mapping: the two concepts are equivalent) 11q13.4 ANKCLP FLJ13152 SKD3 ankyrin-repeat containing bacterial clp fusion suppressor of potassium transport defect 3 ClinVar:CLPB Ensembl:ENSG00000162129 Genatlas:CLPB HGNC:30664 OMIM:616254 SwissProt:Q9H078 CLPB ClpB family mitochondrial disaggregase A rare mycosis caused by <i>Scedosporium</i> species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning. Orphanet ICD-10:B48.7 ICD-11:1F2H MeSH:C000656924 MedDRA:10059045 UMLS:C1142170 Not applicable All ages Australia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449280 Scedosporiosis ORPHA:449280 ICD-10:B48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F2H - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C000656924 E (Exact mapping: the two concepts are equivalent) MedDRA:10059045 E (Exact mapping: the two concepts are equivalent) UMLS:C1142170 E (Exact mapping: the two concepts are equivalent) A rare disorder due to poisoning caused by toxins in the bite of a venomous snake. Envenoming can also be caused by spraying of venom into the eyes. Depending on venom composition and other factors, consequences range from local tissue damage to potentially life-threatening systemic effects. Severe manifestations include paralysis, bleeding disorders, kidney failure, or permanent disability and limb amputation due to severe local tissue destruction. Children may suffer more severe effects because of their lower body mass. Immediate medical attention, in particular administration of antivenom, is critical. Orphanet ICD-10:T63.0 MeSH:D012909 UMLS:C0037379 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449285 Snakebite envenomation ORPHA:449285 ICD-10:T63.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012909 E (Exact mapping: the two concepts are equivalent) UMLS:C0037379 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism). Orphanet ICD-10:Q99.2 OMIM:300624 UMLS:C5681104 X-linked dominant Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449291 Symptomatic form of fragile X syndrome in female carriers ORPHA:449291 ICD-10:Q99.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300624 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681104 E (Exact mapping: the two concepts are equivalent) A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis. Orphanet ICD-10:N11.8 ICD-11:4A43.0 UMLS:C5392056 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449395 IgG4-related kidney disease Clinical subtype ORPHA:449395 ICD-10:N11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5392056 E (Exact mapping: the two concepts are equivalent) A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever. Orphanet ICD-10:I77.6 ICD-11:4A43.0 UMLS:C5681105 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449400 IgG4-related aortitis Clinical subtype ORPHA:449400 ICD-10:I77.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681105 E (Exact mapping: the two concepts are equivalent) Idiopathic hypertrophic pachymeningitis A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness. Orphanet ICD-10:G03.9 ICD-11:4A43.0 UMLS:C4545992 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449427 IgG4-related pachymeningitis Clinical subtype ORPHA:449427 ICD-10:G03.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4545992 E (Exact mapping: the two concepts are equivalent) Küttner tumor A rare IgG4-related disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels. Orphanet ICD-10:K11.2 ICD-11:4A43.0 UMLS:C5679995 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449432 IgG4-related submandibular gland disease Clinical subtype ORPHA:449432 ICD-10:K11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5679995 E (Exact mapping: the two concepts are equivalent) A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common. Orphanet ICD-10:H05.1 ICD-11:4A43.0 UMLS:C5681103 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449563 IgG4-related ophthalmic disease Clinical subtype ORPHA:449563 ICD-10:H05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681103 E (Exact mapping: the two concepts are equivalent) IgG4-related eosinophilic angiocentric fibrosis A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms. Orphanet ICD-10:J39.8 ICD-11:4A43.0 MedDRA:10087310 UMLS:C5578050 Not applicable Adult Worldwide AND has_cases/families_value : 52.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=449566 Eosinophilic angiocentric fibrosis ORPHA:449566 ICD-10:J39.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087310 E (Exact mapping: the two concepts are equivalent) UMLS:C5578050 E (Exact mapping: the two concepts are equivalent) 4q12 NRSF XBR neuron-restrictive silencer factor ClinVar:REST Ensembl:ENSG00000084093 Genatlas:REST HGNC:9966 OMIM:600571 Reactome:Q13127 SwissProt:Q13127 REST RE1 silencing transcription factor 4q22.1 MGC14156 PIG-Y Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y Ensembl:ENSG00000255072 HGNC:28213 OMIM:610662 SwissProt:Q3MUY2 PIGY phosphatidylinositol glycan anchor biosynthesis class Y 16q12.2 NET norepinephrine transporter ClinVar:SLC6A2 Ensembl:ENSG00000103546 Genatlas:SLC6A2 HGNC:11048 IUPHAR:926 OMIM:163970 Reactome:P23975 SwissProt:P23975 SLC6A2 solute carrier family 6 member 2 15q14 DKFZp434O192 FAM22H NUT nuclear protein in testis ClinVar:NUT Ensembl:ENSG00000184507 Genatlas:NUT HGNC:29919 OMIM:608963 Reactome:Q86Y26 SwissProt:Q86Y26 NUTM1 NUT midline carcinoma family member 1 19p13.12 CAP FSHRG4 HUNK1 HUNKI MCAP chromosome-associated protein female sterile homeotic related gene 4 mitotic chromosome-associated protein ClinVar:BRD4 Ensembl:ENSG00000141867 Genatlas:BRD4 HGNC:13575 IUPHAR:1945 OMIM:608749 Reactome:O60885 SwissProt:O60885 BRD4 bromodomain containing 4 Xp22.12 CNK2 KIAA0902 KSR2 ClinVar:CNKSR2 Ensembl:ENSG00000149970 Genatlas:CNKSR2 HGNC:19701 OMIM:300724 Reactome:Q8WXI2 SwissProt:Q8WXI2 CNKSR2 connector enhancer of kinase suppressor of Ras 2 13q32.1 ERdj6 HP58 P58 P58IPK endoplasmic reticulum DNA J domain-containing protein 6 interferon-induced, double-stranded RNA-activated protein kinase inhibitor p58(IPK) protein kinase inhibitor of 58 kDa ClinVar:DNAJC3 Ensembl:ENSG00000102580 Genatlas:DNAJC3 HGNC:9439 OMIM:601184 Reactome:Q13217 SwissProt:Q13217 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 AMP deaminase deficiency Myoadenylate deaminase deficiency A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. Orphanet ICD-10:G71.3 ICD-11:5C55.0Y MeSH:C538234 OMIM:612874 OMIM:615511 UMLS:C2931781 Autosomal recessive All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=45 Adenosine monophosphate deaminase deficiency ORPHA:45 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538234 E (Exact mapping: the two concepts are equivalent) OMIM:612874 E (Exact mapping: the two concepts are equivalent) OMIM:615511 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931781 E (Exact mapping: the two concepts are equivalent) Heterotaxy syndrome Lateralization defect Visceral heterotaxy Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (<i>situs inversus totalis</i> or <i>situs inversus</i> <i>i.e.</i> all the organs normally found on the right are on the left and vice versa) or partial (incomplete <i>situs inversus</i> <i>i.e.</i> a limited number of organs are inversed - or <i>situs inversus ambiguous</i> <i>i.e.</i> a normally lateral organ is centrally located). Orphanet ICD-10:Q89.3 MeSH:D059446 MedDRA:10067265 OMIM:270100 OMIM:306955 OMIM:601086 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:616749 OMIM:617205 OMIM:618948 OMIM:619702 UMLS:C3178805 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=450 Heterotaxia Category ORPHA:450 ICD-10:Q89.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D059446 E (Exact mapping: the two concepts are equivalent) MedDRA:10067265 E (Exact mapping: the two concepts are equivalent) OMIM:270100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:306955 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601086 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606325 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613751 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614779 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616749 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617205 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618948 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619702 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3178805 E (Exact mapping: the two concepts are equivalent) 11q13.2 FLJ12387 ClinVar:KLC2 Ensembl:ENSG00000174996 Genatlas:KLC2 HGNC:20716 OMIM:611729 Reactome:Q9H0B6 SwissProt:Q9H0B6 KLC2 kinesin light chain 2 A rare hematologic disease characterized by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal hemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure. Orphanet ICD-10:D89.0 UMLS:C5681102 Not applicable Adolescent Adult All ages Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=450322 Polyclonal hyperviscosity syndrome ORPHA:450322 ICD-10:D89.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681102 E (Exact mapping: the two concepts are equivalent) 16q23.1 RAP1 ClinVar:TERF2IP Ensembl:ENSG00000166848 Genatlas:TERF2IP HGNC:19246 OMIM:605061 Reactome:Q9NYB0 SwissProt:Q9NYB0 TERF2IP TERF2 interacting protein 6p22.3 Gem ClinVar:GMNN Ensembl:ENSG00000112312 Genatlas:GMNN HGNC:17493 OMIM:602842 Reactome:O75496 SwissProt:O75496 GMNN geminin DNA replication inhibitor 19p13.3 40S ribosomal protein S15 MGC111130 RIG S15 homolog of rat insulinoma insulinoma protein uS19 ClinVar:RPS15 Ensembl:ENSG00000115268 Genatlas:RPS15 HGNC:10388 OMIM:180535 Reactome:P62841 SwissProt:P62841 RPS15 ribosomal protein S15 17q12-q21.1 Aiolos ClinVar:IKZF3 Ensembl:ENSG00000161405 Genatlas:IKZF3 HGNC:13178 OMIM:606221 Reactome:Q9UKT9 SwissProt:Q9UKT9 IKZF3 IKAROS family zinc finger 3 A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae. Orphanet ICD-10:L98.6 ICD-11:EK91.2 UMLS:C4736227 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=451602 Primary cutaneous plasmacytosis ORPHA:451602 ICD-10:L98.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EK91.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736227 E (Exact mapping: the two concepts are equivalent) A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and B-cell pseudolymphomas can be distinguished. Orphanet ICD-10:L98.6 ICD-11:4A43.0 UMLS:C0311220 Not applicable Adult Elderly Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=451607 Cutaneous pseudolymphoma ORPHA:451607 ICD-10:L98.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0311220 E (Exact mapping: the two concepts are equivalent) A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated. Orphanet ICD-10:Q10.5 ICD-11:LA14.14 OMIM:149700 UMLS:C5681101 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=451612 Familial congenital nasolacrimal duct obstruction ORPHA:451612 ICD-10:Q10.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:149700 E (Exact mapping: the two concepts are equivalent) UMLS:C5681101 E (Exact mapping: the two concepts are equivalent) 5q31.2 75 kDa glucose-regulated protein GRP75 PBP74 Stress-70 protein, mitochondrial mortalin mortalin2 mot-2 mthsp75 ClinVar:HSPA9 Ensembl:ENSG00000113013 Genatlas:HSPA9 HGNC:5244 OMIM:600548 Reactome:P38646 SwissProt:P38646 HSPA9 heat shock protein family A (Hsp70) member 9 X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome XLAG (X-linked lissencephaly with abnormal genitalia) syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MeSH:C564563 OMIM:300215 UMLS:C1846171 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia ORPHA:452 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564563 E (Exact mapping: the two concepts are equivalent) OMIM:300215 E (Exact mapping: the two concepts are equivalent) UMLS:C1846171 E (Exact mapping: the two concepts are equivalent) Tay syndrome Trichothiodystrophy type E Trichothiodystrophy with congenital ichthyosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy UMLS:C1866505 IBIDS syndrome ORPHA:453 UMLS:C1866505 E (Exact mapping: the two concepts are equivalent) Au-Kline syndrome HNRNPK-related neurodevelopmental disorder Okamoto syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities. Orphanet ICD-10:Q87.8 OMIM:616580 UMLS:C4225274 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616580 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4225274 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 OMIM:616580 Autosomal dominant Not applicable Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation Etiological subtype ORPHA:453504 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616580 E (Exact mapping: the two concepts are equivalent) Congenital absence of pain with severe intellectual disability Congenital analgesia with severe intellectual disability Congenital insensitivity to pain with preserved temperature sensation Congenital insensitivity to pain with severe non-progressive cognitive delay Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception. Orphanet ICD-10:G60.8 UMLS:C5679994 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=453510 Congenital insensitivity to pain with severe intellectual disability ORPHA:453510 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679994 E (Exact mapping: the two concepts are equivalent) SCAR17 Spinocerebellar ataxia autosomal recessive type 17 A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. Orphanet ICD-10:G11.1 OMIM:616127 UMLS:C4015301 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616127 E (Exact mapping: the two concepts are equivalent) UMLS:C4015301 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Orphanet ICD-10:E34.8 OMIM:616113 UMLS:C4015261 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=453533 Polyendocrine-polyneuropathy syndrome ORPHA:453533 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616113 E (Exact mapping: the two concepts are equivalent) UMLS:C4015261 E (Exact mapping: the two concepts are equivalent) FEOM A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others. Orphanet ICD-10:H49.8 ICD-11:9C82.2 MeSH:C580012 OMIM:135700 OMIM:600638 OMIM:602078 OMIM:609384 OMIM:609428 OMIM:609612 OMIM:616219 UMLS:C1302995 Autosomal dominant Autosomal recessive Not applicable Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.43 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=45358 Congenital fibrosis of extraocular muscles ORPHA:45358 ICD-10:H49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580012 E (Exact mapping: the two concepts are equivalent) OMIM:135700 E (Exact mapping: the two concepts are equivalent) OMIM:600638 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602078 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609384 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609428 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609612 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616219 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1302995 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:H81.0 NON RARE IN EUROPE: Menière disease ORPHA:45360 ICD-10:H81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 20p11.23 CHED HOVO2 bA504H3.3 ClinVar:OVOL2 Ensembl:ENSG00000125850 Genatlas:OVOL2 HGNC:15804 OMIM:616441 SwissProt:Q9BRP0 OVOL2 ovo like zinc finger 2 A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition. Orphanet ICD-10:L85.0 ICD-11:ED50.0 MeSH:C538175 MedDRA:10021199 UMLS:C0263386 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454 Acquired ichthyosis ORPHA:454 ICD-10:L85.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:ED50.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538175 E (Exact mapping: the two concepts are equivalent) MedDRA:10021199 E (Exact mapping: the two concepts are equivalent) UMLS:C0263386 E (Exact mapping: the two concepts are equivalent) 13q14.11 FAMIN FLJ38725 fatty acid metabolism–immunity nexus isocyanic acid synthase ClinVar:C13orf31 Ensembl:ENSG00000179630 Genatlas:C13orf31 HGNC:26789 OMIM:613409 SwissProt:Q8IV20 LACC1 laccase domain containing 1 1p22.3 CARD containing molecule enhancing NF-kB CARD-containing apoptotic signaling protein CARD-containing proapoptotic protein CARD-like apoptotic protein CARMEN CIPER CLAP c-E10 caspase-recruiting domain-containing protein mE10 ClinVar:BCL10 Ensembl:ENSG00000142867 Genatlas:BCL10 HGNC:989 OMIM:603517 Reactome:O95999 SwissProt:O95999 BCL10 BCL10 immune signaling adaptor A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. Orphanet ICD-10:G71.0 ICD-11:8C75 MeSH:C537480 OMIM:254130 OMIM:613318 UMLS:C5553104 Autosomal recessive Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.26 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=45448 Miyoshi myopathy ORPHA:45448 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537480 E (Exact mapping: the two concepts are equivalent) OMIM:254130 E (Exact mapping: the two concepts are equivalent) OMIM:613318 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5553104 E (Exact mapping: the two concepts are equivalent) Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops. Orphanet ICD-10:P29.1 ICD-11:BC81.20 UMLS:C4275090 Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=45452 Idiopathic neonatal atrial flutter ORPHA:45452 ICD-10:P29.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC81.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275090 E (Exact mapping: the two concepts are equivalent) Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure. Orphanet ICD-10:I47.2 ICD-11:BC71.0Y UMLS:C0340487 Not applicable Childhood Infancy Europe AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=45453 Incessant infant ventricular tachycardia ORPHA:45453 ICD-10:I47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC71.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0340487 E (Exact mapping: the two concepts are equivalent) A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual). Orphanet OMIM:123400 UMLS:C5681100 Not applicable All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454700 Acquired Creutzfeldt-Jakob disease Clinical group ORPHA:454700 OMIM:123400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681100 E (Exact mapping: the two concepts are equivalent) PMA A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions. Orphanet ICD-10:G12.2 ICD-11:8B60.3 MedDRA:10036808 UMLS:C0917981 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454706 Progressive muscular atrophy ORPHA:454706 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B60.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10036808 E (Exact mapping: the two concepts are equivalent) UMLS:C0917981 E (Exact mapping: the two concepts are equivalent) A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes. Orphanet ICD-10:L12.8 ICD-11:EB41.Y UMLS:C5681099 Not applicable Adult Elderly Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454710 Anti-p200 pemphigoid ORPHA:454710 ICD-10:L12.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681099 E (Exact mapping: the two concepts are equivalent) PCL A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed. Orphanet ICD-10:C90.1 ICD-11:2A83.4 MeSH:D007952 MedDRA:10035222 UMLS:C0023484 Not applicable Adult Elderly Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454714 Plasma cell leukemia ORPHA:454714 ICD-10:C90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A83.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007952 E (Exact mapping: the two concepts are equivalent) MedDRA:10035222 E (Exact mapping: the two concepts are equivalent) UMLS:C0023484 E (Exact mapping: the two concepts are equivalent) Adie syndrome Tonic pupil-tendon areflexia syndrome A rare ophthalmic disorder characterized by the unilateral or bilateral occurrence of a tonic pupil (showing sectorial denervation of the sphincter pupillae, so that the pupil constricts poorly to light, while the response to near is present but abnormally prolonged), in association with the absence of deep tendon reflexes. In some patients, patchy hypo- or anhidrosis may also be present (a variant known as Ross syndrome). The condition typically occurs in young adults, with a female preponderance. Orphanet ICD-10:H57.0 ICD-11:9B01.1 MeSH:D000270 MedDRA:10020352 OMIM:103100 UMLS:C0001519 Not applicable Adult Europe AND has_point_prevalence_range : Unknown United States AND has_annual_incidence_average_value : 4.7 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454718 Holmes-Adie syndrome ORPHA:454718 ICD-10:H57.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9B01.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000270 E (Exact mapping: the two concepts are equivalent) MedDRA:10020352 E (Exact mapping: the two concepts are equivalent) OMIM:103100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0001519 E (Exact mapping: the two concepts are equivalent) A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma. Orphanet ICD-10:C56 ICD-11:2C73.Y UMLS:C0346163 Not applicable Adult Elderly Europe AND has_annual_incidence_average_value : 0.81 AND has_annual_incidence_range : 1-9 / 1 000 000 Korea, Republic of AND has_annual_incidence_average_value : 0.51 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454723 Endometrioid carcinoma of ovary ORPHA:454723 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0346163 E (Exact mapping: the two concepts are equivalent) A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals. Orphanet ICD-10:A81.8 ICD-11:8E03 UMLS:C4303527 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454742 Variably protease-sensitive prionopathy ORPHA:454742 ICD-10:A81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4303527 E (Exact mapping: the two concepts are equivalent) A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. The last reported patient died in 2005 with an incubation period extending over four decades. Orphanet ICD-10:A81.8 ICD-11:8E01.1 MeSH:D007729 MedDRA:10023497 OMIM:245300 UMLS:C0022802 Multigenic/multifactorial Not applicable All ages Worldwide AND has_cases/families_value : 2700.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454745 Kuru ORPHA:454745 ICD-10:A81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8E01.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007729 E (Exact mapping: the two concepts are equivalent) MedDRA:10023497 E (Exact mapping: the two concepts are equivalent) OMIM:245300 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0022802 E (Exact mapping: the two concepts are equivalent) H-type tracheoesophageal fistula A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood. Orphanet ICD-10:Q39.2 ICD-11:LB12.2 MeSH:D014138 MedDRA:10044310 UMLS:C0040588 Not applicable Neonatal Australia AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454750 Isolated tracheoesophageal fistula ORPHA:454750 ICD-10:Q39.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014138 E (Exact mapping: the two concepts are equivalent) MedDRA:10044310 E (Exact mapping: the two concepts are equivalent) UMLS:C0040588 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Pleomorphic salivary gland adenoma ORPHA:454821 Acute radiation sickness A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterized by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration. Orphanet ICD-10:T66 MeSH:D054508 UMLS:C0520799 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454831 Acute radiation syndrome ORPHA:454831 ICD-10:T66 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054508 E (Exact mapping: the two concepts are equivalent) UMLS:C0520799 E (Exact mapping: the two concepts are equivalent) A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy. Orphanet ICD-10:J09 ICD-11:1E31 MeSH:D005585 MedDRA:10064097 UMLS:C0016627 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 826.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454836 Avian influenza ORPHA:454836 ICD-10:J09 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1E31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005585 E (Exact mapping: the two concepts are equivalent) MedDRA:10064097 E (Exact mapping: the two concepts are equivalent) UMLS:C0016627 E (Exact mapping: the two concepts are equivalent) NTHL1-related AFAP NTHL1-related attenuated FAP ICD-10:D12.6 OMIM:616415 UMLS:C4225157 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454840 NTHL1-related attenuated familial adenomatous polyposis Clinical subtype ORPHA:454840 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616415 E (Exact mapping: the two concepts are equivalent) UMLS:C4225157 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Immune dysregulation disease with immunodeficiency OBSOLETE: Type 1 interferonopathy with immunodeficiency ORPHA:454872 A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. Orphanet ICD-10:G31.0 MeSH:D000088282 UMLS:C0393570 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=454887 Corticobasal syndrome ORPHA:454887 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D000088282 E (Exact mapping: the two concepts are equivalent) UMLS:C0393570 E (Exact mapping: the two concepts are equivalent) 19p13.2 AGR16 Gpcr13 H218 ClinVar:S1PR2 Ensembl:ENSG00000267534 Genatlas:S1PR2 HGNC:3169 IUPHAR:276 OMIM:605111 Reactome:O95136 SwissProt:O95136 S1PR2 sphingosine-1-phosphate receptor 2 Ichthyosis bullosa of Siemens SEI Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth. Orphanet ICD-10:Q80.8 ICD-11:EC20.03 MeSH:D053560 OMIM:146800 UMLS:C0432306 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=455 Superficial epidermolytic ichthyosis ORPHA:455 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053560 E (Exact mapping: the two concepts are equivalent) OMIM:146800 E (Exact mapping: the two concepts are equivalent) UMLS:C0432306 E (Exact mapping: the two concepts are equivalent) 6q16.2 OMIM:616842 DHS6S1 DNase1 hypersensitivity, chromosome 6, site 1 15q22.2 BLTP5C FLJ10381 FLJ20136 KIAA1421 PARK23 bridge-like lipid transfer protein family member 5C ClinVar:VPS13C Ensembl:ENSG00000129003 Genatlas:VPS13C HGNC:23594 OMIM:608879 SwissProt:Q709C8 VPS13C vacuolar protein sorting 13 homolog C 5p15.33 NHE-3 Sodium/hydrogen exchanger 3 ClinVar:SLC9A3 Ensembl:ENSG00000066230 Genatlas:SLC9A3 HGNC:11073 IUPHAR:950 OMIM:182307 Reactome:P48764 SwissProt:P48764 SLC9A3 solute carrier family 9 member A3 11q13.1 COX COX8-2 COX8L VIII VIII-L ClinVar:COX8A Ensembl:ENSG00000176340 Genatlas:COX8A HGNC:2294 OMIM:123870 Reactome:P10176 SwissProt:P10176 COX8A cytochrome c oxidase subunit 8A Del(1)(p35.2) Deletion 1p35.2 Monosomy 1p35.2 A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia, and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia. Orphanet ICD-10:Q93.5 UMLS:C5679992 Not applicable Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=456298 1p35.2 microdeletion syndrome ORPHA:456298 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679992 E (Exact mapping: the two concepts are equivalent) IMNEPD A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. Orphanet ICD-10:Q87.8 OMIM:616263 UMLS:C4015728 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=456312 Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616263 E (Exact mapping: the two concepts are equivalent) UMLS:C4015728 E (Exact mapping: the two concepts are equivalent) HSAN1E HSN1E Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade. Orphanet ICD-10:G60.8 MeSH:C580162 OMIM:614116 UMLS:C3279885 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=456318 Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C580162 E (Exact mapping: the two concepts are equivalent) OMIM:614116 E (Exact mapping: the two concepts are equivalent) UMLS:C3279885 E (Exact mapping: the two concepts are equivalent) Xq28 contiguous gene deletion syndrome X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Orphanet ICD-10:Q99.8 MeSH:C564561 OMIM:300219 UMLS:C1846169 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=456328 X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564561 E (Exact mapping: the two concepts are equivalent) OMIM:300219 E (Exact mapping: the two concepts are equivalent) UMLS:C1846169 E (Exact mapping: the two concepts are equivalent) Hereditary SB-NET Hereditary SI-NET Hereditary neuroendocrine tumor of small bowel Small bowel hereditary neuroendocrine tumor Small intestine hereditary neuroendocrine tumor A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported. Orphanet ICD-10:C17.9 UMLS:C5679993 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=456333 Hereditary neuroendocrine tumor of small intestine ORPHA:456333 ICD-10:C17.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679993 E (Exact mapping: the two concepts are equivalent) A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. Orphanet ICD-10:E74.0 OMIM:616199 UMLS:C4015452 Autosomal recessive Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=456369 Polyglucosan body myopathy type 2 ORPHA:456369 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616199 E (Exact mapping: the two concepts are equivalent) UMLS:C4015452 E (Exact mapping: the two concepts are equivalent) 17q22 DKFZp781H0392 FLJ20315 RNF124 URCC ClinVar:RNF43 Ensembl:ENSG00000108375 Genatlas:RNF43 HGNC:18505 OMIM:612482 Reactome:Q68DV7 SwissProt:Q68DV7 RNF43 ring finger protein 43 1p36.23 ClinVar:PER3 Ensembl:ENSG00000049246 Genatlas:PER3 HGNC:8847 OMIM:603427 Reactome:P56645 SwissProt:P56645 PER3 period circadian regulator 3 2q11.2 DKFZp564L2423 VIP36-like VIPL ClinVar:LMAN2L Ensembl:ENSG00000114988 Genatlas:LMAN2L HGNC:19263 OMIM:609552 Reactome:Q9H0V9 SwissProt:Q9H0V9 LMAN2L lectin, mannose binding 2 like 3q27.1 KIAA0208 ClinVar:DVL3 Ensembl:ENSG00000161202 Genatlas:DVL3 HGNC:3087 OMIM:601368 Reactome:Q92997 SwissProt:Q92997 DVL3 dishevelled segment polarity protein 3 16q13 KIAA0095 nuclear pore complex protein Nup93 ClinVar:NUP93 Ensembl:ENSG00000102900 Genatlas:NUP93 HGNC:28958 OMIM:614351 Reactome:Q8N1F7 SwissProt:Q8N1F7 NUP93 nucleoporin 93 7q33 KIAA0225 nuclear pore complex protein Nup205 ClinVar:NUP205 Ensembl:ENSG00000155561 Genatlas:NUP205 HGNC:18658 OMIM:614352 Reactome:Q92621 SwissProt:Q92621 NUP205 nucleoporin 205 6p24.3 VGR1 ClinVar:BMP6 Ensembl:ENSG00000153162 Genatlas:BMP6 HGNC:1073 OMIM:112266 SwissProt:P22004 BMP6 bone morphogenetic protein 6 6q27 CGI-129 SLC54A1 dJ68L15.3 ClinVar:MPC1 Ensembl:ENSG00000060762 Genatlas:MPC1 HGNC:21606 IUPHAR:3022 OMIM:614738 Reactome:Q9Y5U8 SwissProt:Q9Y5U8 MPC1 mitochondrial pyruvate carrier 1 Autosomal congenital ichthyosis, Harlequin type HI Ichthyosis congenita, Harlequin type A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group. Orphanet ICD-10:Q80.4 ICD-11:EC20.02 MeSH:C538424 MedDRA:10019163 OMIM:242500 UMLS:C0239849 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457 Harlequin ichthyosis ORPHA:457 ICD-10:Q80.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538424 E (Exact mapping: the two concepts are equivalent) MedDRA:10019163 E (Exact mapping: the two concepts are equivalent) OMIM:242500 E (Exact mapping: the two concepts are equivalent) UMLS:C0239849 E (Exact mapping: the two concepts are equivalent) 2p23.3 GATD4 ClinVar:CAD Ensembl:ENSG00000084774 Genatlas:CAD HGNC:1424 OMIM:114010 Reactome:P27708 SwissProt:P27708 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase. Orphanet ICD-10:G71.3 OMIM:616209 UMLS:C4015513 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457050 Autosomal dominant mitochondrial myopathy with exercise intolerance ORPHA:457050 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616209 E (Exact mapping: the two concepts are equivalent) UMLS:C4015513 E (Exact mapping: the two concepts are equivalent) UMLS:C5681125 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy Clinical group ORPHA:457059 UMLS:C5681125 E (Exact mapping: the two concepts are equivalent) UMLS:C5681126 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy Clinical group ORPHA:457062 UMLS:C5681126 E (Exact mapping: the two concepts are equivalent) 1p36.11 PPP1R143 Sodium/hydrogen exchanger 1 protein phosphatase 1, regulatory subunit 143 ClinVar:SLC9A1 Ensembl:ENSG00000090020 Genatlas:SLC9A1 HGNC:11071 IUPHAR:948 OMIM:107310 Reactome:P19634 SwissProt:P19634 SLC9A1 solute carrier family 9 member A1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457074 Congenital nemaline myopathy Clinical group ORPHA:457074 Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare. Orphanet ICD-10:M35.8 ICD-11:4A4Y UMLS:C4552543 Not applicable Adolescent Adult Elderly Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457077 TAFRO syndrome ORPHA:457077 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4552543 E (Exact mapping: the two concepts are equivalent) SGF A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy. Orphanet ICD-10:Q89.0 UMLS:C5680001 No data available Antenatal Neonatal Worldwide AND has_cases/families_value : 145.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457083 Isolated splenogonadal fusion ORPHA:457083 ICD-10:Q89.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680001 E (Exact mapping: the two concepts are equivalent) Invasive candidiasis-deep dermatophytosis syndrome A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy. Orphanet ICD-10:D84.8 MedDRA:10083959 OMIM:212050 UMLS:C1859353 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457088 Predisposition to invasive fungal disease due to CARD9 deficiency ORPHA:457088 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10083959 E (Exact mapping: the two concepts are equivalent) OMIM:212050 E (Exact mapping: the two concepts are equivalent) UMLS:C1859353 E (Exact mapping: the two concepts are equivalent) A rare bacterial infectious disease characterized by a chronic granulomatous infection by <i>Actinomyces</i> species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region. Orphanet ICD-10:A42.0 ICD-10:A42.1 ICD-10:A42.2 ICD-10:A42.7 ICD-10:A42.8 ICD-11:1C10 ICD-11:1C10.0 ICD-11:1C10.1 ICD-11:1C10.2 ICD-11:1C10.3 ICD-11:1C10.Y MeSH:D000196 MedDRA:10000620 UMLS:C0001261 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457095 Actinomycosis ORPHA:457095 ICD-10:A42.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A42.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A42.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A42.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:A42.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C10.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C10.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C10.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C10.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C10.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000196 E (Exact mapping: the two concepts are equivalent) MedDRA:10000620 E (Exact mapping: the two concepts are equivalent) UMLS:C0001261 E (Exact mapping: the two concepts are equivalent) 2p11.2 DKFZP586M0122 FLJ21915 RPA1 RPA190 RPO1-4 ClinVar:POLR1A Ensembl:ENSG00000068654 Genatlas:POLR1A HGNC:17264 OMIM:616404 Reactome:O95602 SwissProt:O95602 POLR1A RNA polymerase I subunit A 11q24.2 5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase DCS-1 DCS1 HINT-5 HINT5 HSL1 HSPC015 histidine triad nucleotide binding protein 5 m7GpppX diphosphatase ClinVar:DCPS Ensembl:ENSG00000110063 Genatlas:DCPS HGNC:29812 OMIM:610534 Reactome:Q96C86 SwissProt:Q96C86 DCPS decapping enzyme, scavenger 22q12.1 BK125H2.1 ClinVar:MYO18B Ensembl:ENSG00000133454 Genatlas:MYO18B HGNC:18150 OMIM:607295 SwissProt:Q8IUG5 MYO18B myosin XVIIIB COQ4-related neonatal encephalomyopathy A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. Orphanet ICD-10:E88.8 OMIM:616276 UMLS:C5568562 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616276 E (Exact mapping: the two concepts are equivalent) UMLS:C5568562 E (Exact mapping: the two concepts are equivalent) Arboleda-Tham syndrome KAT6A syndrome A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. Orphanet ICD-10:Q87.8 OMIM:616268 UMLS:C4225396 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 76.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457193 KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616268 E (Exact mapping: the two concepts are equivalent) UMLS:C4225396 E (Exact mapping: the two concepts are equivalent) 2p14 ASCT-1 ASCT1 SATT alanine/serine/cysteine/threonine transporter neutral amino acid transporter A ClinVar:SLC1A4 Ensembl:ENSG00000115902 Genatlas:SLC1A4 HGNC:10942 IUPHAR:873 OMIM:600229 Reactome:P43007 SwissProt:P43007 SLC1A4 solute carrier family 1 member 4 ANOAC Axonal neuropathy-optic atrophy-cognitive deficit syndrome A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. Orphanet ICD-10:G60.8 UMLS:C5680002 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680002 E (Exact mapping: the two concepts are equivalent) A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. Orphanet ICD-10:F78.1 OMIM:616269 UMLS:C4225395 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ORPHA:457212 ICD-10:F78.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616269 E (Exact mapping: the two concepts are equivalent) UMLS:C4225395 E (Exact mapping: the two concepts are equivalent) Syndromic sensorineural deafness due to COXPD Syndromic sensorineural hearing loss due to COXPD A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. Orphanet ICD-10:E88.8 OMIM:617872 UMLS:C4693450 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect ORPHA:457223 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617872 E (Exact mapping: the two concepts are equivalent) UMLS:C4693450 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300957 UMLS:C5681122 X-linked recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457240 X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300957 E (Exact mapping: the two concepts are equivalent) UMLS:C5681122 E (Exact mapping: the two concepts are equivalent) CCSK Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported. Orphanet ICD-10:C64 MedDRA:10009253 UMLS:C0334488 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457246 Clear cell sarcoma of kidney ORPHA:457246 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10009253 E (Exact mapping: the two concepts are equivalent) UMLS:C0334488 E (Exact mapping: the two concepts are equivalent) OTSCC Oral tongue squamous cell carcinoma This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the oral tongue ORPHA:457252 A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported. Orphanet ICD-10:F78.8 ICD-11:LD90 OMIM:300958 UMLS:C5681121 X-linked dominant Adolescent Childhood Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457260 X-linked intellectual disability-hypotonia-movement disorder syndrome ORPHA:457260 ICD-10:F78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300958 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681121 E (Exact mapping: the two concepts are equivalent) EPM9 PME type 9 Progressive myoclonic epilepsy due to LMNB2 deficiency Progressive myoclonus epilepsy type 9 A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). Orphanet ICD-10:G40.3 OMIM:616540 UMLS:C4225289 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457265 Progressive myoclonic epilepsy type 9 ORPHA:457265 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616540 E (Exact mapping: the two concepts are equivalent) UMLS:C4225289 E (Exact mapping: the two concepts are equivalent) A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. Orphanet ICD-10:Q87.8 OMIM:616355 UMLS:C4225354 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome ORPHA:457279 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616355 E (Exact mapping: the two concepts are equivalent) UMLS:C4225354 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. Orphanet ICD-10:Q87.0 OMIM:616362 UMLS:C4225352 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616362 E (Exact mapping: the two concepts are equivalent) UMLS:C4225352 E (Exact mapping: the two concepts are equivalent) Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. Orphanet ICD-10:Q02 OMIM:616577 UMLS:C4225276 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616577 E (Exact mapping: the two concepts are equivalent) UMLS:C4225276 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:617011 UMLS:C5681123 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617011 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681123 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities. Orphanet ICD-10:Q87.8 UMLS:C5681124 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681124 E (Exact mapping: the two concepts are equivalent) Martsolf-like syndrome A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal. Orphanet ICD-10:G40.4 OMIM:616647 UMLS:C4225256 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616647 E (Exact mapping: the two concepts are equivalent) UMLS:C4225256 E (Exact mapping: the two concepts are equivalent) Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. Orphanet ICD-10:Q78.8 OMIM:616897 UMLS:C4225162 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457378 Complex lethal osteochondrodysplasia ORPHA:457378 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616897 E (Exact mapping: the two concepts are equivalent) UMLS:C4225162 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. Orphanet ICD-10:Q87.8 OMIM:616723 UMLS:C5568882 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616723 E (Exact mapping: the two concepts are equivalent) UMLS:C5568882 E (Exact mapping: the two concepts are equivalent) MMDS4 A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia. Orphanet ICD-10:E88.8 OMIM:616370 UMLS:C4225348 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457406 Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616370 E (Exact mapping: the two concepts are equivalent) UMLS:C4225348 E (Exact mapping: the two concepts are equivalent) 19q13.41 FMLP FPR N-formylpeptide receptor fMet-Leu-Phe receptor ClinVar:FPR1 Ensembl:ENSG00000171051 Genatlas:FPR1 HGNC:3826 IUPHAR:222 OMIM:136537 Reactome:P21462 SwissProt:P21462 FPR1 formyl peptide receptor 1 17q21.31 FTDCR1B HS HSNIK NIK serine/threonine protein-kinase ClinVar:MAP3K14 Ensembl:ENSG00000006062 Genatlas:MAP3K14 HGNC:6853 IUPHAR:2074 OMIM:604655 Reactome:Q99558 SwissProt:Q99558 MAP3K14 mitogen-activated protein kinase kinase kinase 14 5q35.1 KIAA0209 ClinVar:DOCK2 Ensembl:ENSG00000134516 Genatlas:DOCK2 HGNC:2988 OMIM:603122 Reactome:Q92608 SwissProt:Q92608 DOCK2 dedicator of cytokinesis 2 MINDS syndrome Smith-Kingsmore syndrome A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. Orphanet ICD-10:Q87.0 OMIM:616638 UMLS:C4225259 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ORPHA:457485 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616638 E (Exact mapping: the two concepts are equivalent) UMLS:C4225259 E (Exact mapping: the two concepts are equivalent) 15q21.2 DFNA71 KIAA0856 RC3 rabconnectin 3 ClinVar:DMXL2 Ensembl:ENSG00000104093 Genatlas:DMXL2 HGNC:2938 OMIM:612186 SwissProt:Q8TDJ6 DMXL2 Dmx like 2 17q23.1 BIT1 Bcl-2 inhibitor of transcription CFAP37 CGI-147 PTH2 cilia and flagella associated protein 37 ClinVar:PTRH2 Ensembl:ENSG00000141378 Genatlas:PTRH2 HGNC:24265 OMIM:608625 Reactome:Q9Y3E5 SwissProt:Q9Y3E5 PTRH2 peptidyl-tRNA hydrolase 2 10q24.31 FLJ10998 hDrn1 human Dbr1 associated ribonuclease 1 ClinVar:CWF19L1 Ensembl:ENSG00000095485 Genatlas:CWF19L1 HGNC:25613 OMIM:616120 SwissProt:Q69YN2 CWF19L1 CWF19 like cell cycle control factor 1 17q21.33 BP1 DLX8 ClinVar:DLX4 Ensembl:ENSG00000108813 Genatlas:DLX4 HGNC:2917 OMIM:601911 Reactome:Q92988 SwissProt:Q92988 DLX4 distal-less homeobox 4 10q21.1 ClinVar:IPMK Ensembl:ENSG00000151151 Genatlas:IPMK HGNC:20739 OMIM:609851 Reactome:Q8NFU5 SwissProt:Q8NFU5 IPMK inositol polyphosphate multikinase 22q11.21 CHC22 CLH22 CLTD ClinVar:CLTCL1 Ensembl:ENSG00000070371 Genatlas:CLTCL1 HGNC:2093 OMIM:601273 Reactome:P53675 SwissProt:P53675 CLTCL1 clathrin heavy chain like 1 9q21.32 CSBP TUNP transformation upregulated nuclear protein ClinVar:HNRNPK Ensembl:ENSG00000165119 Genatlas:HNRNPK HGNC:5044 OMIM:600712 Reactome:P61978 SwissProt:P61978 HNRNPK heterogeneous nuclear ribonucleoprotein K 11p15.4 RHOM1 TTG1 ClinVar:LMO1 Ensembl:ENSG00000166407 Genatlas:LMO1 HGNC:6641 OMIM:186921 Reactome:P25800 SwissProt:P25800 LMO1 LIM domain only 1 8q12.1 ZNF912 ClinVar:PLAG1 Ensembl:ENSG00000181690 Genatlas:PLAG1 HGNC:9045 OMIM:603026 SwissProt:Q6DJT9 PLAG1 PLAG1 zinc finger 16p13.3 NTH1 OCTS3 ClinVar:NTHL1 Ensembl:ENSG00000065057 Genatlas:NTHL1 HGNC:8028 OMIM:602656 Reactome:P78549 SwissProt:P78549 NTHL1 nth like DNA glycosylase 1 19q13.13-q13.2 KIAA0545 SPAR3 spine-associated RapGAP 3 Ensembl:ENSG00000105738 HGNC:23801 OMIM:616655 SwissProt:O60292 SIPA1L3 signal induced proliferation associated 1 like 3 6p24.3 HNT hindsight homolog (drosophila) ClinVar:RREB1 Ensembl:ENSG00000124782 Genatlas:RREB1 HGNC:10449 OMIM:602209 Reactome:Q92766 SwissProt:Q92766 RREB1 ras responsive element binding protein 1 10q22.2 KIAA0079 ClinVar:SEC24C Ensembl:ENSG00000176986 Genatlas:SEC24C HGNC:10705 OMIM:607185 Reactome:P53992 SwissProt:P53992 SEC24C SEC24 homolog C, COPII coat complex component This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Specific language impairment ORPHA:458713 Idiopathic SCAD A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. Orphanet ICD-10:I25.4 OMIM:122455 UMLS:C5679999 Not applicable Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458718 Idiopathic spontaneous coronary artery dissection ORPHA:458718 ICD-10:I25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:122455 E (Exact mapping: the two concepts are equivalent) UMLS:C5679999 E (Exact mapping: the two concepts are equivalent) A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare. Orphanet ICD-10:D48.1 UMLS:C1304513 Not applicable All ages Worldwide AND has_cases/families_value : 39.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458758 Composite hemangioendothelioma ORPHA:458758 ICD-10:D48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1304513 E (Exact mapping: the two concepts are equivalent) A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare. Orphanet ICD-10:D48.1 UMLS:C1304512 Not applicable Adolescent Adult Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458763 Retiform hemangioendothelioma ORPHA:458763 ICD-10:D48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1304512 E (Exact mapping: the two concepts are equivalent) Dabska tumor PILA Primary intralymphatic angioendothelioma A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults. Orphanet ICD-10:D48.1 UMLS:C0346087 Not applicable Adolescent Adult Childhood Elderly Infancy Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458768 Papillary intralymphatic angioendothelioma ORPHA:458768 ICD-10:D48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0346087 E (Exact mapping: the two concepts are equivalent) UMLS:C0235753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458775 Congenital hemangioma Clinical group ORPHA:458775 UMLS:C0235753 E (Exact mapping: the two concepts are equivalent) A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress. Orphanet ICD-10:D18.0 ICD-11:2E81.2Y UMLS:C4733501 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458785 Partially involuting congenital hemangioma ORPHA:458785 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E81.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4733501 E (Exact mapping: the two concepts are equivalent) Mixed cystic lymphangioma A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur. Orphanet ICD-10:D18.1 UMLS:C5680000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458792 Mixed cystic lymphatic malformation ORPHA:458792 ICD-10:D18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680000 E (Exact mapping: the two concepts are equivalent) SCA41 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. Orphanet ICD-10:G11.2 OMIM:616410 UMLS:C4225158 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458798 Spinocerebellar ataxia type 41 ORPHA:458798 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616410 E (Exact mapping: the two concepts are equivalent) UMLS:C4225158 E (Exact mapping: the two concepts are equivalent) SCA42 A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor. Orphanet ICD-10:G11.8 OMIM:616795 UMLS:C4225205 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458803 Spinocerebellar ataxia type 42 ORPHA:458803 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616795 E (Exact mapping: the two concepts are equivalent) UMLS:C4225205 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare vascular tumor OBSOLETE: Vascular tumor with associated anomalies ORPHA:458827 UMLS:C5681120 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458830 Rare capillary malformation with associated anomalies Category ORPHA:458830 UMLS:C5681120 E (Exact mapping: the two concepts are equivalent) A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed. Orphanet UMLS:C5681116 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458833 Common cystic lymphatic malformation Clinical group ORPHA:458833 UMLS:C5681116 E (Exact mapping: the two concepts are equivalent) UMLS:C5681115 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458837 Rare combined vascular malformation Clinical group ORPHA:458837 UMLS:C5681115 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Primary lymphedema with associated anomalies ORPHA:458841 UMLS:C5681117 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=458844 Rare vascular malformation of major vessels Category ORPHA:458844 UMLS:C5681117 E (Exact mapping: the two concepts are equivalent) 8p12 FE TF2E2 TFIIE beta subunit TFIIE-B Transcription initiation factor IIE subunit beta ClinVar:GTF2E2 Ensembl:ENSG00000197265 Genatlas:GTF2E2 HGNC:4651 OMIM:189964 Reactome:P29084 SwissProt:P29084 GTF2E2 general transcription factor IIE subunit 2 2p16.1 APE Akt-phosphorylation enhancer FLJ10392 GIV GRDN Galpha-interacting vesicle-associated protein HkRP1 girders of actin filaments girdin ClinVar:CCDC88A Ensembl:ENSG00000115355 Genatlas:CCDC88A HGNC:25523 OMIM:609736 SwissProt:Q3V6T2 CCDC88A coiled-coil domain containing 88A AOA4 A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. Orphanet ICD-10:G60.2 OMIM:616267 UMLS:C4225397 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459033 Ataxia-oculomotor apraxia type 4 ORPHA:459033 ICD-10:G60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616267 E (Exact mapping: the two concepts are equivalent) UMLS:C4225397 E (Exact mapping: the two concepts are equivalent) 3q25.2 CALLA CD10 NEP enkephalinase neprilysin neutral endopeptidase ClinVar:MME Ensembl:ENSG00000196549 Genatlas:MME HGNC:7154 IUPHAR:1611 OMIM:120520 Reactome:P08473 SwissProt:P08473 MME membrane metalloendopeptidase SED, Stanescu type A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. Orphanet ICD-10:Q77.7 OMIM:616583 UMLS:C4225273 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459051 Spondyloepiphyseal dysplasia, Stanescu type ORPHA:459051 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616583 E (Exact mapping: the two concepts are equivalent) UMLS:C4225273 E (Exact mapping: the two concepts are equivalent) SPG75 A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported. Orphanet ICD-10:G11.4 OMIM:616680 UMLS:C4225250 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459056 Autosomal recessive spastic paraplegia type 75 ORPHA:459056 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616680 E (Exact mapping: the two concepts are equivalent) UMLS:C4225250 E (Exact mapping: the two concepts are equivalent) Developmental delay-short stature-dysmorphic features-sparse hair syndrome Loucks-Innes syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. Orphanet ICD-10:Q87.8 OMIM:616901 OMIM:620062 UMLS:C4310801 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616901 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620062 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4310801 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia. Orphanet ICD-10:Q87.0 ICD-11:LD90 OMIM:300998 UMLS:C5681118 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300998 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681118 E (Exact mapping: the two concepts are equivalent) 7q36.3 microduplication syndrome Dup(7)(q36.3) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. Orphanet ICD-10:Q04.0 UMLS:C5679998 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074 ICD-10:Q04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5679998 E (Exact mapping: the two concepts are equivalent) Xp11.21 11B6 BCG1 HCA10 JCL-1 MAGE-D2 MAGED MGC8386 breast cancer associated gene 1 hepatocellular carcinoma associated protein hepatocellular carcinoma-associated protein HCA10 melanoma-associated antigen D2 ClinVar:MAGED2 Ensembl:ENSG00000102316 Genatlas:MAGED2 HGNC:16353 OMIM:300470 Reactome:Q9UNF1 SwissProt:Q9UNF1 MAGED2 MAGE family member D2 11p15.1 MYOD PUM bHLHc1 myoblast determination protein 1 ClinVar:MYOD1 Ensembl:ENSG00000129152 Genatlas:MYOD1 HGNC:7611 OMIM:159970 Reactome:P15172 SwissProt:P15172 MYOD1 myogenic differentiation 1 3q21.3 BM28 D3S3194 DFNA70 KIAA0030 cdc19 mitotin ClinVar:MCM2 Ensembl:ENSG00000073111 Genatlas:MCM2 HGNC:6944 OMIM:116945 Reactome:P49736 SwissProt:P49736 MCM2 minichromosome maintenance complex component 2 6q21 DFNA66 Endolyn MGC-24 MGC-24v MUC-24 Sialomucin core protein 24 deafness, autosomal dominant 66 multi-glycosylated core protein 24 ClinVar:CD164 Ensembl:ENSG00000135535 Genatlas:CD164 HGNC:1632 OMIM:603356 Reactome:Q04900 SwissProt:Q04900 CD164 CD164 molecule 1p21.2 Cdc14A1 Cdc14A2 DFNB105 cdc14 ClinVar:CDC14A Ensembl:ENSG00000079335 Genatlas:CDC14A HGNC:1718 OMIM:603504 Reactome:Q9UNH5 SwissProt:Q9UNH5 CDC14A cell division cycle 14A 9q22.33 SAS sialic acid synthase ClinVar:NANS Ensembl:ENSG00000095380 Genatlas:NANS HGNC:19237 OMIM:605202 Reactome:Q9NR45 SwissProt:Q9NR45 NANS N-acetylneuraminate synthase UMLS:C5681110 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459345 Immunodeficiency due to a complement cascade component deficiency Category ORPHA:459345 UMLS:C5681110 E (Exact mapping: the two concepts are equivalent) UMLS:C5681111 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459348 Immunodeficiency due to a complement regulatory deficiency Category ORPHA:459348 UMLS:C5681111 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal systemic lupus erythematosus OBSOLETE: C1 inhibitor deficiency ORPHA:459353 UMLS:C5681109 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459526 Rare genetic capillary malformation Category ORPHA:459526 UMLS:C5681109 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Primary lymphedema OBSOLETE: Genetic primary lymphedema ORPHA:459530 Genetic hemangiolymphangioma UMLS:C5679997 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459537 Genetic complex vascular malformation with associated anomalies Category ORPHA:459537 UMLS:C5679997 E (Exact mapping: the two concepts are equivalent) UMLS:C5681112 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459543 Rare genetic vascular tumor Category ORPHA:459543 UMLS:C5681112 E (Exact mapping: the two concepts are equivalent) UMLS:C5681113 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459548 Rare genetic venous malformation Category ORPHA:459548 UMLS:C5681113 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Gender dysphoria ORPHA:459690 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:M41.1 NON RARE IN EUROPE: Juvenile idiopathic scoliosis ORPHA:459696 ICD-10:M41.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681114 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=459787 Lethal multiple congenital anomalies/dysmorphic syndrome Category ORPHA:459787 UMLS:C5681114 E (Exact mapping: the two concepts are equivalent) ADSL deficiency Adenylosuccinase deficiency A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. Orphanet ICD-10:E79.8 ICD-11:5C55.0Y MeSH:C538235 MedDRA:10081681 OMIM:103050 UMLS:C0268126 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 56.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46 Adenylosuccinate lyase deficiency ORPHA:46 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538235 E (Exact mapping: the two concepts are equivalent) MedDRA:10081681 E (Exact mapping: the two concepts are equivalent) OMIM:103050 E (Exact mapping: the two concepts are equivalent) UMLS:C0268126 E (Exact mapping: the two concepts are equivalent) 6q26 QK3 ClinVar:QKI Ensembl:ENSG00000112531 Genatlas:QKI HGNC:21100 OMIM:609590 Reactome:Q96PU8 SwissProt:Q96PU8 QKI QKI, KH domain containing RNA binding Sterol C5-desaturase deficiency Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Orphanet ICD-10:Q87.8 ICD-11:5C52.10 MeSH:C537880 OMIM:607330 UMLS:C1846421 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46059 Lathosterolosis ORPHA:46059 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537880 E (Exact mapping: the two concepts are equivalent) OMIM:607330 E (Exact mapping: the two concepts are equivalent) UMLS:C1846421 E (Exact mapping: the two concepts are equivalent) 9q34.11 CGI-92 ClinVar:COQ4 Ensembl:ENSG00000167113 Genatlas:COQ4 HGNC:19693 OMIM:612898 SwissProt:Q9Y3A0 COQ4 coenzyme Q4 14q24.3 ISA2 ClinVar:ISCA2 Ensembl:ENSG00000165898 Genatlas:ISCA2 HGNC:19857 OMIM:615317 Reactome:Q86U28 SwissProt:Q86U28 ISCA2 iron-sulfur cluster assembly 2 5q14.2 DNA repair protein XRCC4 X-ray repair, complementing defective, repair in Chinese hamster hXRCC4 ClinVar:XRCC4 Ensembl:ENSG00000152422 Genatlas:XRCC4 HGNC:12831 OMIM:194363 Reactome:Q13426 SwissProt:Q13426 XRCC4 X-ray repair cross complementing 4 17q25.1 MRP-S RP-S7 RPMS7 uS7m ClinVar:MRPS7 Ensembl:ENSG00000125445 Genatlas:MRPS7 HGNC:14499 OMIM:611974 Reactome:Q9Y2R9 SwissProt:Q9Y2R9 MRPS7 mitochondrial ribosomal protein S7 19q13.41 PP2A-Aalpha PP2AA PR65A Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform protein phosphatase 2, 65kDa regulatory subunit A protein phosphatase 2A structural subunit A, alpha isoform protein phosphatase 2A, regulatory subunit A, alpha isoform ClinVar:PPP2R1A Ensembl:ENSG00000105568 Genatlas:PPP2R1A HGNC:9302 OMIM:605983 Reactome:P30153 SwissProt:P30153 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha 6p21.1 B56D B56delta Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform ClinVar:PPP2R5D Ensembl:ENSG00000112640 Genatlas:PPP2R5D HGNC:9312 OMIM:601646 Reactome:Q14738 SwissProt:Q14738 PPP2R5D protein phosphatase 2 regulatory subunit B'delta 10q22.3 ClinVar:FAM22E Ensembl:ENSG00000228570 Genatlas:FAM22E HGNC:23448 SwissProt:B1AL46 NUTM2E NUT family member 2E 5p15.33 ClinVar:IRX2 Ensembl:ENSG00000170561 Genatlas:IRX2 HGNC:14359 OMIM:606198 SwissProt:Q9BZI1 IRX2 iroquois homeobox 2 Xq25 THO2 dJ506G2.1 ClinVar:THOC2 Ensembl:ENSG00000125676 Genatlas:THOC2 HGNC:19073 OMIM:300395 Reactome:Q8NI27 SwissProt:Q8NI27 THOC2 THO complex subunit 2 15q22.31 p532 p619 ClinVar:HERC1 Ensembl:ENSG00000103657 Genatlas:HERC1 HGNC:4867 OMIM:605109 Reactome:Q15751 SwissProt:Q15751 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4p15.32 FLJ90013 ClinVar:TAPT1 Ensembl:ENSG00000169762 Genatlas:TAPT1 HGNC:26887 OMIM:612758 SwissProt:Q6NXT6 TAPT1 transmembrane anterior posterior transformation 1 16q13 KIAA1972 ClinVar:RSPRY1 Ensembl:ENSG00000159579 Genatlas:RSPRY1 HGNC:29420 OMIM:616585 SwissProt:Q96DX4 RSPRY1 ring finger and SPRY domain containing 1 13q34 CAMP CHAMP chromosome alignment-maintaining phosphoprotein ClinVar:CHAMP1 Ensembl:ENSG00000198824 Genatlas:CHAMP1 HGNC:20311 OMIM:616327 Reactome:Q96JM3 SwissProt:Q96JM3 CHAMP1 chromosome alignment maintaining phosphoprotein 1 4q28.1 AFG2 ATPase family gene 2 homolog (S. cerevisiae) SPAF ClinVar:SPATA5 Ensembl:ENSG00000145375 Genatlas:SPATA5 HGNC:18119 OMIM:613940 SwissProt:Q8NB90 AFG2A AFG2 AAA ATPase homolog A Xp22.11-p21.3 p180 ClinVar:POLA1 Ensembl:ENSG00000101868 Genatlas:POLA1 HGNC:9173 OMIM:312040 Reactome:P09884 SwissProt:P09884 POLA1 DNA polymerase alpha 1, catalytic subunit 1q32.1 FLJ14744 ClinVar:PPP1R15B Ensembl:ENSG00000158615 Genatlas:PPP1R15B HGNC:14951 OMIM:613257 Reactome:Q5SWA1 SwissProt:Q5SWA1 PPP1R15B protein phosphatase 1 regulatory subunit 15B 17p13.3 OVCA1 ovarian tumor suppressor candidate 1 ClinVar:DPH1 Ensembl:ENSG00000108963 Genatlas:DPH1 HGNC:3003 OMIM:603527 Reactome:Q9BZG8 SwissProt:Q9BZG8 DPH1 diphthamide biosynthesis 1 19q13.1 S-MAG SIGLEC-4A SIGLEC4 SIGLEC4A sialic acid binding Ig-like lectin 4A ClinVar:MAG Ensembl:ENSG00000105695 Genatlas:MAG HGNC:6783 OMIM:159460 Reactome:P20916 SwissProt:P20916 MAG myelin associated glycoprotein 4q27 ClinVar:TRPC3 Ensembl:ENSG00000138741 Genatlas:TRPC3 HGNC:12335 IUPHAR:488 OMIM:602345 Reactome:Q13507 SwissProt:Q13507 TRPC3 transient receptor potential cation channel subfamily C member 3 17q21.33 Cav3.1 NBR13 ClinVar:CACNA1G Ensembl:ENSG00000006283 Genatlas:CACNA1G HGNC:1394 IUPHAR:535 OMIM:604065 Reactome:O43497 SwissProt:O43497 CACNA1G calcium voltage-gated channel subunit alpha1 G RXLI Steroid sulfatase deficiency X-linked ichthyosis XLI A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild. Orphanet ICD-10:Q80.1 ICD-11:EC20.01 MeSH:D016114 OMIM:308100 UMLS:C2720163 X-linked recessive Neonatal Europe AND has_annual_incidence_average_value : 15.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 16.6 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 9.9 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=461 Recessive X-linked ichthyosis ORPHA:461 ICD-10:Q80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC20.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016114 E (Exact mapping: the two concepts are equivalent) OMIM:308100 E (Exact mapping: the two concepts are equivalent) UMLS:C2720163 E (Exact mapping: the two concepts are equivalent) 7q21.2 FLJ39885 KIAA2005 ClinVar:SAMD9L Ensembl:ENSG00000177409 Genatlas:SAMD9L HGNC:1349 OMIM:611170 SwissProt:Q8IVG5 SAMD9L sterile alpha motif domain containing 9 like 2p23.3 CCP5 FLJ21839 cytosolic carboxypeptidase 5 ClinVar:AGBL5 Ensembl:ENSG00000084693 Genatlas:AGBL5 HGNC:26147 OMIM:615900 Reactome:Q8NDL9 SwissProt:Q8NDL9 AGBL5 AGBL carboxypeptidase 5 14q24.3 DKFZp434D0935 MGC16714 NERCC NERCC1 Nek8 ClinVar:NEK9 Ensembl:ENSG00000119638 Genatlas:NEK9 HGNC:18591 IUPHAR:2124 OMIM:609798 Reactome:Q8TD19 SwissProt:Q8TD19 NEK9 NIMA related kinase 9 7p14.1 FRP-4 FRPHE FRZB-2 frpHE ClinVar:SFRP4 Ensembl:ENSG00000106483 Genatlas:SFRP4 HGNC:10778 OMIM:606570 SwissProt:Q6FHJ7 SFRP4 secreted frizzled related protein 4 1q25.3 ClinVar:TSEN15 Ensembl:ENSG00000198860 Genatlas:TSEN15 HGNC:16791 OMIM:608756 Reactome:Q8WW01 SwissProt:Q8WW01 TSEN15 tRNA splicing endonuclease subunit 15 5q23.2 KMT8C PRISM ClinVar:PRDM6 Ensembl:ENSG00000061455 Genatlas:PRDM6 HGNC:9350 OMIM:616982 SwissProt:Q9NQX0 PRDM6 PR/SET domain 6 3q26.2-q26.31 KIAA0551 ClinVar:TNIK Ensembl:ENSG00000154310 Genatlas:TNIK HGNC:30765 IUPHAR:2244 OMIM:610005 Reactome:Q9UKE5 SwissProt:Q9UKE5 TNIK TRAF2 and NCK interacting kinase PCNSL Primary CNS lymphoma Primary brain lymphoma Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes. Orphanet ICD-10:C83.3 ICD-11:2A8Z MedDRA:10036685 UMLS:C0280803 Not applicable Adult Elderly Sweden AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.44 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46135 Primary central nervous system lymphoma ORPHA:46135 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A8Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10036685 E (Exact mapping: the two concepts are equivalent) UMLS:C0280803 E (Exact mapping: the two concepts are equivalent) Xq28 DSPG1 SLRR1A biglycan proteoglycan ClinVar:BGN Ensembl:ENSG00000182492 Genatlas:BGN HGNC:1044 OMIM:301870 Reactome:P21810 SwissProt:P21810 BGN biglycan 7q32.1 FZD11 frizzled family member 11 ClinVar:SMO Ensembl:ENSG00000128602 Genatlas:SMO HGNC:11119 IUPHAR:239 OMIM:601500 Reactome:Q99835 SwissProt:Q99835 SMO smoothened, frizzled class receptor 11q12.3 G2AN GIIA GIIalpha GluII KIAA0088 neutral alpha-glucosidase AB ClinVar:GANAB Ensembl:ENSG00000089597 Genatlas:GANAB HGNC:4138 OMIM:104160 Reactome:Q14697 SwissProt:Q14697 GANAB glucosidase II alpha subunit Xp22.2 CLC4 ClC-4 ClinVar:CLCN4 Ensembl:ENSG00000073464 Genatlas:CLCN4 HGNC:2022 IUPHAR:703 OMIM:302910 Reactome:P51793 SwissProt:P51793 CLCN4 chloride voltage-gated channel 4 22q11.21 human CDC45 ClinVar:CDC45 Ensembl:ENSG00000093009 Genatlas:CDC45 HGNC:1739 OMIM:603465 Reactome:O75419 SwissProt:O75419 CDC45 cell division cycle 45 4p12 FLJ13220 ClinVar:GUF1 Ensembl:ENSG00000151806 Genatlas:GUF1 HGNC:25799 OMIM:617064 SwissProt:Q8N442 GUF1 GTP binding elongation factor GUF1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:Q80.0 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris ORPHA:462 ICD-10:Q80.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adrenal incidentaloma ORPHA:463 Familial rectal pain A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age. Orphanet ICD-10:G90.8 ICD-11:8E43.Y MeSH:C563475 MedDRA:10081856 OMIM:167400 UMLS:C1833661 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46348 Paroxysmal extreme pain disorder ORPHA:46348 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E43.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563475 E (Exact mapping: the two concepts are equivalent) MedDRA:10081856 E (Exact mapping: the two concepts are equivalent) OMIM:167400 E (Exact mapping: the two concepts are equivalent) UMLS:C1833661 E (Exact mapping: the two concepts are equivalent) 2q34 FLJ33496 KIAA1843 UNC-80 ClinVar:UNC80 Ensembl:ENSG00000144406 Genatlas:UNC80 HGNC:26582 OMIM:612636 Reactome:Q8N2C7 SwissProt:Q8N2C7 UNC80 unc-80 homolog, NALCN channel complex subunit 16q24.3 ClinVar:C16orf3 Ensembl:ENSG00000221819 Genatlas:C16orf3 HGNC:1197 OMIM:605179 SwissProt:O95177 GAS8-AS1 GAS8 antisense RNA 1 Xq21.1 LPA4 P2RY9 P2Y5-LIKE P2Y9 ClinVar:GPR23 Ensembl:ENSG00000147145 Genatlas:GPR23 HGNC:4478 IUPHAR:94 OMIM:300086 Reactome:Q99677 SwissProt:Q99677 LPAR4 lysophosphatidic acid receptor 4 Bloch-Siemens syndrome Bloch-Sulzberger syndrome An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality. Orphanet ICD-10:Q82.3 ICD-11:LD27.00 MeSH:D007184 MedDRA:10077624 OMIM:308300 UMLS:C0021171 X-linked dominant Neonatal Europe AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464 Incontinentia pigmenti ORPHA:464 ICD-10:Q82.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD27.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007184 E (Exact mapping: the two concepts are equivalent) MedDRA:10077624 E (Exact mapping: the two concepts are equivalent) OMIM:308300 E (Exact mapping: the two concepts are equivalent) UMLS:C0021171 E (Exact mapping: the two concepts are equivalent) 11q13.4 RSPH16A TSARG6 radial spoke 16 homolog A (Chlamydomonas) ClinVar:DNAJB13 Ensembl:ENSG00000187726 Genatlas:DNAJB13 HGNC:30718 OMIM:610263 Reactome:P59910 SwissProt:P59910 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 17q21.2 DKFZP434H0115 ClinVar:TTC25 Ensembl:ENSG00000204815 Genatlas:TTC25 HGNC:25280 OMIM:617095 Reactome:Q96NG3 SwissProt:Q96NG3 ODAD4 outer dynein arm docking complex subunit 4 12q24.23 CITK CRIK KIAA0949 STK21 serine/threonine kinase 21 ClinVar:CIT Ensembl:ENSG00000122966 Genatlas:CIT HGNC:1985 IUPHAR:1509 OMIM:605629 Reactome:O14578 SwissProt:O14578 CIT citron rho-interacting serine/threonine kinase SPPRS syndrome Spastic paraplegia-psychomotor retardation-seizures syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. Orphanet ICD-10:Q87.8 OMIM:616756 UMLS:C5568869 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616756 E (Exact mapping: the two concepts are equivalent) UMLS:C5568869 E (Exact mapping: the two concepts are equivalent) SBIDDS A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. Orphanet ICD-10:Q87.8 OMIM:617157 UMLS:C5568868 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464288 Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617157 E (Exact mapping: the two concepts are equivalent) UMLS:C5568868 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Infantile capillary hemangioma ORPHA:464293 6p21.31 LEM2 NET25 dJ482C21.1 lamina-associated polypeptide-emerin-MAN1 domain containing 2 ClinVar:LEMD2 Ensembl:ENSG00000161904 Genatlas:LEMD2 HGNC:21244 OMIM:616312 Reactome:Q8NC56 SwissProt:Q8NC56 LEMD2 LEM domain nuclear envelope protein 2 DYRK1A syndrome A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects. Orphanet ICD-10:Q87.8 ICD-11:LD90.Y OMIM:614104 UMLS:C5568143 Autosomal dominant Not applicable Unknown Infancy Worldwide AND has_cases/families_value : 54.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464306 DYRK1A-related intellectual disability syndrome ORPHA:464306 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614104 E (Exact mapping: the two concepts are equivalent) UMLS:C5568143 E (Exact mapping: the two concepts are equivalent) DYRK1A-related intellectual disability syndrome due to a point mutation ICD-10:Q87.8 ICD-11:LD90.Y OMIM:614104 UMLS:C5679991 Infancy Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464311 Intellectual disability syndrome due to a DYRK1A point mutation Etiological subtype ORPHA:464311 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614104 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679991 E (Exact mapping: the two concepts are equivalent) A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting. Orphanet ICD-10:D18.0 ICD-11:LC52 UMLS:C0334540 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464318 Verrucous hemangioma ORPHA:464318 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0334540 E (Exact mapping: the two concepts are equivalent) Cutaneovisceral angiomatosis-thrombocytopenia syndrome MLT Multifocal lymphangioendotheliomatosis with thrombocytopenia A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma. Orphanet ICD-10:D18.1 UMLS:C5575322 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome ORPHA:464321 ICD-10:D18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5575322 E (Exact mapping: the two concepts are equivalent) A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition. Orphanet ICD-10:D18.1 ICD-11:2E81.10 UMLS:C5681097 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464329 Kaposiform lymphangiomatosis ORPHA:464329 ICD-10:D18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E81.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681097 E (Exact mapping: the two concepts are equivalent) B-cell expansion with NF-kB and T-cell anergy disease A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported. Orphanet ICD-10:D81.8 OMIM:616452 UMLS:C4551967 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464336 BENTA disease ORPHA:464336 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616452 E (Exact mapping: the two concepts are equivalent) UMLS:C4551967 E (Exact mapping: the two concepts are equivalent) CAPS Catastrophic APS A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery. Orphanet ICD-10:D68.6 UMLS:C3662487 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464343 Catastrophic antiphospholipid syndrome ORPHA:464343 ICD-10:D68.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3662487 E (Exact mapping: the two concepts are equivalent) A rare renal tumor characterized by a benign epithelial (metanephric adenoma), biphasic (metanephric adenofibroma) or renal stromal (metanephric stromal tumor) neoplasm. Metanephric adenoma mostly occurs in the fifth to sixth decade of life with distinct female predominance. It may be asymptomatic or present with abdominal pain, hematuria, and/or polycythemia. Metanephric adenofibroma has been described from infancy to young adulthood, potentially causing polycythemia or hematuria. Metanephric stromal tumor typically presents in infancy or childhood as an abdominal mass, sometimes manifestations of extrarenal vasculopathy such as hypertension or hemorrhage. Orphanet ICD-10:D30.0 UMLS:C5681098 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464359 Benign metanephric tumor ORPHA:464359 ICD-10:D30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681098 E (Exact mapping: the two concepts are equivalent) Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. Orphanet ICD-10:Q77.2 OMIM:617022 UMLS:C5568141 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464366 NEK9-related lethal skeletal dysplasia ORPHA:464366 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617022 E (Exact mapping: the two concepts are equivalent) UMLS:C5568141 E (Exact mapping: the two concepts are equivalent) A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported. Orphanet ICD-10:P61.5 ICD-11:KA8E UMLS:C0272176 Neonatal Europe AND has_point_prevalence_range : Unknown Poland AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464370 Neonatal alloimmune neutropenia ORPHA:464370 ICD-10:P61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KA8E - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0272176 E (Exact mapping: the two concepts are equivalent) A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive. Orphanet ICD-10:G24.1 OMIM:616411 UMLS:C4225336 Autosomal recessive Adult Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464440 Primary dystonia, DYT27 type ORPHA:464440 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616411 E (Exact mapping: the two concepts are equivalent) UMLS:C4225336 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIL CDG-IIL CDG2L Congenital disorder of glycosylation type 2l Congenital disorder of glycosylation type IIL A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles. Orphanet ICD-10:E77.8 OMIM:614576 UMLS:C3553230 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464443 COG6-CGD ORPHA:464443 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614576 E (Exact mapping: the two concepts are equivalent) UMLS:C3553230 E (Exact mapping: the two concepts are equivalent) Drug-induced methemoglobinemia A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin. Orphanet ICD-10:D74.8 ICD-11:3A93 UMLS:C0271905 Not applicable All ages Worldwide AND has_cases/families_value : 242.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464453 Acquired methemoglobinemia ORPHA:464453 ICD-10:D74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A93 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0271905 E (Exact mapping: the two concepts are equivalent) Acetaminophen poisoning A rare intoxication due to a medical product occurring as a result of accidental or intentional overdosing of paracetamol (acetaminophen). Patients may develop gastroenteritis within hours and hepatotoxicity within 24 to 72 hours after ingestion, potentially leading to acute liver injury and liver failure. Possible non-hepatic sequelae include renal failure, thrombocytopenia, pancreatitis, and subendocardial myocyte necrosis. Chronic paracetamol poisoning may be asymptomatic or include all signs and symptoms potentially occurring in acute poisoning. Orphanet ICD-10:T88.7 ICD-11:NE60 UMLS:C0237963 Not applicable All ages Europe AND has_point_prevalence_range : Unknown Iceland AND has_annual_incidence_average_value : 16.0 AND has_annual_incidence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464458 Paracetamol poisoning ORPHA:464458 ICD-10:T88.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:NE60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0237963 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Gastric adenocarcinoma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adenocarcinoma of stomach ORPHA:464463 2q33.3 DKFZP434E2135 HFZ5 ClinVar:FZD5 Ensembl:ENSG00000163251 Genatlas:FZD5 HGNC:4043 IUPHAR:233 OMIM:601723 Reactome:Q13467 SwissProt:Q13467 FZD5 frizzled class receptor 5 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare parenchymal liver disease OBSOLETE: Disorder with acute infantile liver failure ORPHA:464682 A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment. Orphanet ICD-10:K72.0 OMIM:616483 OMIM:618641 UMLS:C5681094 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464724 Fever-associated acute infantile liver failure syndrome ORPHA:464724 ICD-10:K72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616483 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618641 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681094 E (Exact mapping: the two concepts are equivalent) A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others. Orphanet ICD-10:Q87.8 OMIM:616449 UMLS:C4225323 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464738 Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616449 E (Exact mapping: the two concepts are equivalent) UMLS:C4225323 E (Exact mapping: the two concepts are equivalent) A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis). Orphanet ICD-10:C16.9 UMLS:C5681095 Autosomal recessive Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464756 Familial gastric type 1 neuroendocrine tumor ORPHA:464756 ICD-10:C16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681095 E (Exact mapping: the two concepts are equivalent) Familial CODA A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. Orphanet ICD-10:Q14.2 OMIM:611543 UMLS:C1969063 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464760 Familial cavitary optic disc anomaly ORPHA:464760 ICD-10:Q14.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:611543 E (Exact mapping: the two concepts are equivalent) UMLS:C1969063 E (Exact mapping: the two concepts are equivalent) UMLS:C5681096 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=464764 Immune-mediated acquired neuromuscular junction disease Clinical group ORPHA:464764 UMLS:C5681096 E (Exact mapping: the two concepts are equivalent) Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). Orphanet UMLS:C1335110 Multigenic/multifactorial Not applicable Adult Europe AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46484 Oligodendroglial tumor Clinical group ORPHA:46484 UMLS:C1335110 E (Exact mapping: the two concepts are equivalent) UMLS:C5681323 Not applicable All ages Europe AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46485 Superficial pemphigus Clinical group ORPHA:46485 UMLS:C5681323 E (Exact mapping: the two concepts are equivalent) Cicatricial pemphigoid Mucosal pemphigoid Mucosynechial pemphigoid A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes. Orphanet ICD-10:L12.1 ICD-11:EB41.1 MedDRA:10057052 OMIM:164185 UMLS:C0030804 Not applicable Adolescent Adult Childhood Elderly Infancy Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 2.456 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46486 Mucous membrane pemphigoid ORPHA:46486 ICD-10:L12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EB41.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10057052 E (Exact mapping: the two concepts are equivalent) OMIM:164185 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0030804 E (Exact mapping: the two concepts are equivalent) Acquired epidermolysis bullosa A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease. Orphanet ICD-10:L12.3 ICD-11:EB43 MeSH:D016107 MedDRA:10056508 UMLS:C0079293 Not applicable Adolescent Adult Childhood Elderly Infancy Europe AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.284 AND has_point_prevalence_range : 1-9 / 1 000 000 Serbia AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Singapore AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46487 Epidermolysis bullosa acquisita ORPHA:46487 ICD-10:L12.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB43 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016107 E (Exact mapping: the two concepts are equivalent) MedDRA:10056508 E (Exact mapping: the two concepts are equivalent) UMLS:C0079293 E (Exact mapping: the two concepts are equivalent) A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ). Orphanet ICD-10:L10.8 ICD-11:EB42 MeSH:D062027 MedDRA:10024515 UMLS:C0406650 Not applicable All ages Germany AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Kuwait AND has_annual_incidence_average_value : 0.069 AND has_annual_incidence_range : <1 / 1 000 000 Kuwait AND has_point_prevalence_average_value : 0.207 AND has_point_prevalence_range : 1-9 / 1 000 000 Singapore AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Singapore AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46488 Linear IgA dermatosis ORPHA:46488 ICD-10:L10.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D062027 E (Exact mapping: the two concepts are equivalent) MedDRA:10024515 E (Exact mapping: the two concepts are equivalent) UMLS:C0406650 E (Exact mapping: the two concepts are equivalent) OBSOLETE: BSLE This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cutaneous lupus erythematosus OBSOLETE: Bullous systemic lupus erythematosus ORPHA:46489 Congenital PAI-1 deficiency A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. Orphanet ICD-10:D68.8 ICD-11:3B50.1 OMIM:613329 UMLS:C4273899 Autosomal recessive Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=465 Congenital plasminogen activator inhibitor type 1 deficiency ORPHA:465 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B50.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:613329 E (Exact mapping: the two concepts are equivalent) UMLS:C4273899 E (Exact mapping: the two concepts are equivalent) HPFH-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. Orphanet ICD-10:D56.4 ICD-11:3A50.4 OMIM:141749 OMIM:142335 OMIM:142470 OMIM:305435 OMIM:613566 UMLS:C0271994 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome ORPHA:46532 ICD-10:D56.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:141749 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:142335 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:142470 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613566 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0271994 E (Exact mapping: the two concepts are equivalent) Symptomatic form of classic hemochromatosis Symptomatic form of hemochromatosis type 1 A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus. Orphanet ICD-10:E83.1 OMIM:235200 UMLS:C5679990 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=465508 Symptomatic form of HFE-related hemochromatosis ORPHA:465508 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:235200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5679990 E (Exact mapping: the two concepts are equivalent) 3p21.31 NPR2 NPR2L ClinVar:TUSC4 Ensembl:ENSG00000114388 Genatlas:TUSC4 HGNC:24969 OMIM:607072 SwissProt:Q8WTW4 NPRL2 NPR2 like, GATOR1 complex subunit 16p13.3 CGTHBA HS-40 MARE NPR3 RMD11 conserved gene telomeric to alpha globin cluster ClinVar:CGTHBA Ensembl:ENSG00000103148 Genatlas:CGTHBA HGNC:14124 OMIM:600928 SwissProt:Q12980 NPRL3 NPR3 like, GATOR1 complex subunit 17q21.2 FLJ32662 ClinVar:KLHL10 Ensembl:ENSG00000161594 Genatlas:KLHL10 HGNC:18829 OMIM:608778 SwissProt:Q6JEL2 KLHL10 kelch like family member 10 1p36.23 ARG ARP ATN2 DNB1 KIAA0458 atrophin 2 ClinVar:RERE Ensembl:ENSG00000142599 Genatlas:RERE HGNC:9965 OMIM:605226 Reactome:Q9P2R6 SwissProt:Q9P2R6 RERE arginine-glutamic acid dipeptide repeats Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. Orphanet ICD-10:Q87.8 OMIM:613630 UMLS:C3150891 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=465824 Fetal encasement syndrome ORPHA:465824 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613630 E (Exact mapping: the two concepts are equivalent) UMLS:C3150891 E (Exact mapping: the two concepts are equivalent) 11q14.1 HT007 ClinVar:TMEM126B Ensembl:ENSG00000171204 Genatlas:TMEM126B HGNC:30883 OMIM:615533 Reactome:Q8IUX1 SwissProt:Q8IUX1 TMEM126B transmembrane protein 126B 20q13.12 CED-12 CED12 ELMO-2 FLJ11656 KIAA1834 ClinVar:ELMO2 Ensembl:ENSG00000062598 Genatlas:ELMO2 HGNC:17233 OMIM:606421 Reactome:Q96JJ3 SwissProt:Q96JJ3 ELMO2 engulfment and cell motility 2 18q22.1 CAP2 cytoplasmic antiproteinase 2 ClinVar:SERPINB8 Ensembl:ENSG00000166401 Genatlas:SERPINB8 HGNC:8952 OMIM:601697 Reactome:P50452 SwissProt:P50452 SERPINB8 serpin family B member 8 FFI A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse. Orphanet ICD-10:A81.8 ICD-11:8E02.2 MeSH:D034062 MedDRA:10072077 OMIM:600072 UMLS:C0206042 Autosomal dominant Adult Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466 Fatal familial insomnia ORPHA:466 ICD-10:A81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E02.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D034062 E (Exact mapping: the two concepts are equivalent) MedDRA:10072077 E (Exact mapping: the two concepts are equivalent) OMIM:600072 E (Exact mapping: the two concepts are equivalent) UMLS:C0206042 E (Exact mapping: the two concepts are equivalent) Class I G6PD deficiency Severe hemolytic anemia due to G6PD deficiency A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children. Orphanet ICD-10:D55.0 OMIM:300908 UMLS:C5680005 X-linked recessive Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466026 Class I glucose-6-phosphate dehydrogenase deficiency ORPHA:466026 ICD-10:D55.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300908 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680005 E (Exact mapping: the two concepts are equivalent) UMLS:C5681131 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466066 Genetic hemoglobinopathy Category ORPHA:466066 UMLS:C5681131 E (Exact mapping: the two concepts are equivalent) UMLS:C5681130 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466084 Genetic otorhinolaryngologic disease Category ORPHA:466084 UMLS:C5681130 E (Exact mapping: the two concepts are equivalent) Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers). Orphanet ICD-10:Q87.8 MeSH:C566815 OMIM:169100 UMLS:C1868570 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 109.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46627 Char syndrome ORPHA:46627 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566815 E (Exact mapping: the two concepts are equivalent) OMIM:169100 E (Exact mapping: the two concepts are equivalent) UMLS:C1868570 E (Exact mapping: the two concepts are equivalent) Xp22.13 EDDM6 HE6 TM7LN2 epididymal protein 6 ClinVar:ADGRG2 Ensembl:ENSG00000173698 Genatlas:ADGRG2 HGNC:4516 IUPHAR:187 OMIM:300572 SwissProt:Q8IZP9 ADGRG2 adhesion G protein-coupled receptor G2 6q15 MEKK7 TGF-beta activated kinase 1 ClinVar:MAP3K7 Ensembl:ENSG00000135341 Genatlas:MAP3K7 HGNC:6859 IUPHAR:2082 OMIM:602614 Reactome:O43318 SwissProt:O43318 MAP3K7 mitogen-activated protein kinase kinase kinase 7 16q22.1 FLJ10640 KIAA1933 ClinVar:PRMT7 Ensembl:ENSG00000132600 Genatlas:PRMT7 HGNC:25557 IUPHAR:1258 OMIM:610087 Reactome:Q9NVM4 SwissProt:Q9NVM4 PRMT7 protein arginine methyltransferase 7 5q23.1 protein-lysine 6-oxidase ClinVar:LOX Ensembl:ENSG00000113083 Genatlas:LOX HGNC:6664 IUPHAR:3097 OMIM:153455 Reactome:P28300 SwissProt:P28300 LOX lysyl oxidase 3q28-q29 FHF1 fibroblast growth factor 12B fibroblast growth factor FGF-12b fibroblast growth factor homologous factor 1 myocyte-activating factor ClinVar:FGF12 Ensembl:ENSG00000114279 Genatlas:FGF12 HGNC:3668 OMIM:601513 Reactome:P61328 SwissProt:P61328 FGF12 fibroblast growth factor 12 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Microcephalic osteodysplastic primordial dwarfism type II Primordial short stature-microdontia-opalescent and rootless teeth syndrome ORPHA:46658 Exertional heat stroke A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. Orphanet ICD-10:T88.3 ICD-11:NF06.0 UMLS:C4544037 Multigenic/multifactorial All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466650 Exercise-induced malignant hyperthermia ORPHA:466650 ICD-10:T88.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:NF06.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4544037 E (Exact mapping: the two concepts are equivalent) UMLS:C5681128 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466658 Rare disease with malignant hyperthermia Category ORPHA:466658 UMLS:C5681128 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Colorectal cancer ORPHA:466667 A rare intoxication characterized by onset of toxic manifestations within seconds to hours - depending on the route, duration, dosage, and source of exposure - after inhalation of volatile cyanides (especially from fire smoke), ingestion of cyanide (including use of certain medications) or contact with the skin or mucous membranes. In severe cases following inhalation, signs of hyperventilation appear within seconds or minutes and are followed by loss of consciousness with convulsions and ultimately cardiovascular collapse and/or respiratory arrest. Other clinical signs include dizziness, weakness, palpitations, and anxiety, followed by dyspnea, pulmonary edema, confusion, ataxia, and paralysis. Orphanet ICD-10:T65.0 ICD-11:NE61 UMLS:C0238080 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466670 Cyanide poisoning ORPHA:466670 ICD-10:T65.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0238080 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G53.0 NON RARE IN EUROPE: Post-herpetic neuralgia ORPHA:466673 ICD-10:G53.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema. Orphanet ICD-10:T63.2 MeSH:D065008 UMLS:C0238417 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466677 Scorpion envenomation ORPHA:466677 ICD-10:T63.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065008 E (Exact mapping: the two concepts are equivalent) UMLS:C0238417 E (Exact mapping: the two concepts are equivalent) Euthyroid Graves ophthalmopathy A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (i. e. unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies. Orphanet ICD-10:H05.2 UMLS:C5680004 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466682 Euthyroid Graves orbitopathy ORPHA:466682 ICD-10:H05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680004 E (Exact mapping: the two concepts are equivalent) A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. Orphanet ICD-10:Q87.0 OMIM:616819 UMLS:C4225193 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616819 E (Exact mapping: the two concepts are equivalent) UMLS:C4225193 E (Exact mapping: the two concepts are equivalent) Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected. Orphanet ICD-10:J34.8 UMLS:C5681127 Not applicable Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466695 Supratip dysplasia ORPHA:466695 ICD-10:J34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681127 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIp CDG-IIp CDG2P Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p Congenital disorder of glycosylation type IIp A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases. Orphanet ICD-10:E77.8 OMIM:616829 UMLS:C4225190 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466703 TMEM199-CDG ORPHA:466703 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616829 E (Exact mapping: the two concepts are equivalent) UMLS:C4225190 E (Exact mapping: the two concepts are equivalent) MCRPE A rare, genetic retinal disease characterized by characteristic "dried-out soil" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time. Orphanet ICD-10:H35.5 OMIM:617111 UMLS:C4310713 Autosomal dominant Adult Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466718 Martinique crinkled retinal pigment epitheliopathy ORPHA:466718 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617111 E (Exact mapping: the two concepts are equivalent) UMLS:C4310713 E (Exact mapping: the two concepts are equivalent) SPG77 Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. Orphanet ICD-10:G11.4 OMIM:617046 UMLS:C5569007 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466722 Autosomal recessive spastic paraplegia type 77 ORPHA:466722 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617046 E (Exact mapping: the two concepts are equivalent) UMLS:C5569007 E (Exact mapping: the two concepts are equivalent) Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. Orphanet ICD-10:Q25.8 OMIM:607411 OMIM:617035 OMIM:617039 UMLS:C5568140 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466729 Familial patent arterial duct ORPHA:466729 ICD-10:Q25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607411 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617035 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617039 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5568140 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using ALG9-CDG OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome ORPHA:466732 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation CMT2Z A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties. Orphanet ICD-10:G60.0 OMIM:616688 UMLS:C5569025 Autosomal dominant Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z ORPHA:466768 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616688 E (Exact mapping: the two concepts are equivalent) UMLS:C5569025 E (Exact mapping: the two concepts are equivalent) ARCMT2X Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation CMT2X A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. Orphanet ICD-10:G60.0 OMIM:616668 UMLS:C5569024 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X ORPHA:466775 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616668 E (Exact mapping: the two concepts are equivalent) UMLS:C5569024 E (Exact mapping: the two concepts are equivalent) COXPD28 Combined oxidative phosphorylation defect type 28 A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV. Orphanet ICD-10:E88.8 OMIM:616794 UMLS:C5569081 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect ORPHA:466784 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616794 E (Exact mapping: the two concepts are equivalent) UMLS:C5569081 E (Exact mapping: the two concepts are equivalent) Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. Orphanet ICD-10:Q87.8 OMIM:300967 UMLS:C5569083 X-linked recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome ORPHA:466791 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300967 E (Exact mapping: the two concepts are equivalent) UMLS:C5569083 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 21 SCAR21 A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. Orphanet ICD-10:G11.0 OMIM:616719 UMLS:C5569084 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616719 E (Exact mapping: the two concepts are equivalent) UMLS:C5569084 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Progressive muscular dystrophy OBSOLETE: LIMS2-related myopathy ORPHA:466801 A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others. Orphanet ICD-10:D69.4 OMIM:616913 OMIM:619130 UMLS:C5568864 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466806 Autosomal dominant thrombocytopenia with platelet secretion defect ORPHA:466806 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616913 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619130 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5568864 E (Exact mapping: the two concepts are equivalent) A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern. Orphanet ICD-10:G71.0 UMLS:C5568863 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome ORPHA:466921 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568863 E (Exact mapping: the two concepts are equivalent) SSM syndrome Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. Orphanet ICD-10:E77.8 OMIM:616682 UMLS:C4225248 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466926 Seizures-scoliosis-macrocephaly syndrome ORPHA:466926 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616682 E (Exact mapping: the two concepts are equivalent) UMLS:C4225248 E (Exact mapping: the two concepts are equivalent) VPS11-related autosomal recessive hypomyelinating leukoencephalopathy A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities. Orphanet ICD-10:G93.8 OMIM:616683 UMLS:C5568878 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy ORPHA:466934 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616683 E (Exact mapping: the two concepts are equivalent) UMLS:C5568878 E (Exact mapping: the two concepts are equivalent) DESSH Desanto-Shinawi syndrome A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present. Orphanet ICD-10:Q87.0 OMIM:616708 UMLS:C5568862 Autosomal dominant Not applicable Unknown Childhood Infancy Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome ORPHA:466943 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616708 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5568862 E (Exact mapping: the two concepts are equivalent) Desanto-Shinawi syndrome due to WAC point mutation ICD-10:Q87.8 OMIM:616708 UMLS:C5681129 Autosomal dominant Not applicable Childhood Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation Clinical subtype ORPHA:466950 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616708 E (Exact mapping: the two concepts are equivalent) UMLS:C5681129 E (Exact mapping: the two concepts are equivalent) SMARCA4-deficient thoracic sarcoma A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking. Orphanet ICD-10:C49.3 UMLS:C5554190 Not applicable Adult Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=466962 SMARCA4-deficient sarcoma of thorax ORPHA:466962 ICD-10:C49.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5554190 E (Exact mapping: the two concepts are equivalent) Congenital combined pituitary hormone deficiency Congenital hypopituitarism Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Orphanet UMLS:C5680091 All ages Europe AND has_birth_prevalence_average_value : 29.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=467 Non-acquired combined pituitary hormone deficiency Category ORPHA:467 UMLS:C5680091 E (Exact mapping: the two concepts are equivalent) Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems. Orphanet ICD-10:Q04.8 UMLS:C5568850 Autosomal dominant Not applicable Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=467166 Tubulinopathy-associated dysgyria ORPHA:467166 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568850 E (Exact mapping: the two concepts are equivalent) Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Orphanet ICD-10:G71.2 OMIM:616816 UMLS:C5568849 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616816 E (Exact mapping: the two concepts are equivalent) UMLS:C5568849 E (Exact mapping: the two concepts are equivalent) 19q13.12 ATP6A H(+)-K(+)-ATPase alpha subunit gastric H,K-ATPase alpha subunit proton pump ClinVar:ATP4A Ensembl:ENSG00000105675 Genatlas:ATP4A HGNC:819 IUPHAR:849 OMIM:137216 Reactome:P20648 SwissProt:P20648 ATP4A ATPase H+/K+ transporting subunit alpha Intracranial arteriovenous malformation Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures. Orphanet ICD-10:Q28.2 ICD-11:8B22.40 MeSH:D002538 OMIM:108010 UMLS:C0917804 No data available All ages Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=46724 Cerebral arteriovenous malformation ORPHA:46724 ICD-10:Q28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002538 E (Exact mapping: the two concepts are equivalent) OMIM:108010 E (Exact mapping: the two concepts are equivalent) UMLS:C0917804 E (Exact mapping: the two concepts are equivalent) 12q13.2 RASI-1 ClinVar:MMP19 Ensembl:ENSG00000123342 Genatlas:MMP19 HGNC:7165 IUPHAR:1642 OMIM:601807 Reactome:Q99542 SwissProt:Q99542 MMP19 matrix metallopeptidase 19 1q32.3-q41 PEZ PTPD2 ClinVar:PTPN14 Ensembl:ENSG00000152104 Genatlas:PTPN14 HGNC:9647 OMIM:603155 Reactome:Q15678 SwissProt:Q15678 PTPN14 protein tyrosine phosphatase non-receptor type 14 A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. Orphanet ICD-10:G93.8 OMIM:617171 UMLS:C5568848 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468620 Intellectual disability-epilepsy-extrapyramidal syndrome ORPHA:468620 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617171 E (Exact mapping: the two concepts are equivalent) UMLS:C5568848 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe. Orphanet ICD-10:Q02 OMIM:614833 UMLS:C3553831 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468631 Microcephalic cortical malformations-short stature due to RTTN deficiency ORPHA:468631 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614833 E (Exact mapping: the two concepts are equivalent) UMLS:C3553831 E (Exact mapping: the two concepts are equivalent) CMUSE A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed. Orphanet ICD-10:K63.8 ICD-11:DA94.02 OMIM:618372 UMLS:C4302263 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468635 Cryptogenic multifocal ulcerous stenosing enteritis ORPHA:468635 ICD-10:K63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DA94.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:618372 E (Exact mapping: the two concepts are equivalent) UMLS:C4302263 E (Exact mapping: the two concepts are equivalent) CEAS A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape. Orphanet ICD-10:K63.8 UMLS:C5568838 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468641 Chronic enteropathy associated with SLCO2A1 gene ORPHA:468641 ICD-10:K63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568838 E (Exact mapping: the two concepts are equivalent) SPG74 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. Orphanet ICD-10:G11.4 OMIM:616451 UMLS:C5568837 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468661 Autosomal recessive spastic paraplegia type 74 ORPHA:468661 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616451 E (Exact mapping: the two concepts are equivalent) UMLS:C5568837 E (Exact mapping: the two concepts are equivalent) A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent. Orphanet ICD-10:L98.8 OMIM:106190 UMLS:C5568836 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468666 Isolated generalized anhidrosis with normal sweat glands ORPHA:468666 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:106190 E (Exact mapping: the two concepts are equivalent) UMLS:C5568836 E (Exact mapping: the two concepts are equivalent) MACOM syndrome A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. Orphanet ICD-10:Q15.8 MeSH:C566533 OMIM:602499 UMLS:C1865286 Autosomal dominant Adolescent Childhood Elderly Infancy Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468672 Colobomatous macrophthalmia-microcornea syndrome ORPHA:468672 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566533 E (Exact mapping: the two concepts are equivalent) OMIM:602499 E (Exact mapping: the two concepts are equivalent) UMLS:C1865286 E (Exact mapping: the two concepts are equivalent) Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). Orphanet ICD-10:Q87.0 OMIM:616364 UMLS:C4225351 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468678 White-Sutton syndrome ORPHA:468678 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616364 E (Exact mapping: the two concepts are equivalent) UMLS:C4225351 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIo CDG-IIo CDG2O Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o Congenital disorder of glycosylation type IIo A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin. Orphanet ICD-10:E77.8 OMIM:616828 UMLS:C4225191 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468684 CCDC115-CDG ORPHA:468684 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616828 E (Exact mapping: the two concepts are equivalent) UMLS:C4225191 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIn CDG-IIn CDG2N Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n Congenital disorder of glycosylation type IIn SLC39A8 deficiency A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay, severe intellectual disability, hypotonia, and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy. Orphanet ICD-10:E77.8 OMIM:616721 UMLS:C4225234 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468699 SLC39A8-CDG ORPHA:468699 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616721 E (Exact mapping: the two concepts are equivalent) UMLS:C4225234 E (Exact mapping: the two concepts are equivalent) ICD-10:Q77.3 ICD-11:LD24.04 OMIM:616716 UMLS:C4225237 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468717 Rhizomelic chondrodysplasia punctata type 5 Etiological subtype ORPHA:468717 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616716 E (Exact mapping: the two concepts are equivalent) UMLS:C4225237 E (Exact mapping: the two concepts are equivalent) TMAU A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences. Orphanet ICD-10:E88.8 OMIM:602079 UMLS:C5575503 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=468726 Severe primary trimethylaminuria ORPHA:468726 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602079 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5575503 E (Exact mapping: the two concepts are equivalent) Xp22.2 KIAA0316 ClinVar:FRMPD4 Ensembl:ENSG00000169933 Genatlas:FRMPD4 HGNC:29007 OMIM:300838 SwissProt:Q14CM0 FRMPD4 FERM and PDZ domain containing 4 Xq13.2 E3 ubiquitin-protein ligase RLIM LIM domain interacting ring finger protein MGC15161 NY-REN-43 ring zinc finger protein NY-REN-43antigen ClinVar:RLIM Ensembl:ENSG00000131263 Genatlas:RLIM HGNC:13429 OMIM:300379 Reactome:Q9NVW2 SwissProt:Q9NVW2 RLIM ring finger protein, LIM domain interacting Xp11.23 USP27 ClinVar:USP27X Ensembl:ENSG00000273820 Genatlas:USP27X HGNC:13486 OMIM:300975 SwissProt:A6NNY8 USP27X ubiquitin specific peptidase 27 X-linked Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. Orphanet ICD-10:E74.1 ICD-11:5C51.50 MeSH:D005633 MedDRA:10019878 OMIM:229600 UMLS:C0016751 Autosomal recessive All ages China AND has_point_prevalence_average_value : 0.1981 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 7.5 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 0.38 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.753 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=469 Hereditary fructose intolerance ORPHA:469 ICD-10:E74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C51.50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005633 E (Exact mapping: the two concepts are equivalent) MedDRA:10019878 E (Exact mapping: the two concepts are equivalent) OMIM:229600 E (Exact mapping: the two concepts are equivalent) UMLS:C0016751 E (Exact mapping: the two concepts are equivalent) 3q22.1 FLJ23251 UBA5, ubiquitin-activating enzyme E1 homolog (yeast) ClinVar:UBA5 Ensembl:ENSG00000081307 Genatlas:UBA5 HGNC:23230 OMIM:610552 Reactome:Q9GZZ9 SwissProt:Q9GZZ9 UBA5 ubiquitin like modifier activating enzyme 5 19q13.33 EB11 GluN2D N-methyl-d-aspartate receptor subunit 2D NR2D ClinVar:GRIN2D Ensembl:ENSG00000105464 Genatlas:GRIN2D HGNC:4588 IUPHAR:459 OMIM:602717 Reactome:O15399 SwissProt:O15399 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D 10q24.31 I-kappa-B kinase IKK-alpha IKK1 IKKA IkBKA NFKBIKA inhibitor of nuclear factor kappa-B kinase subunit alpha ClinVar:CHUK Ensembl:ENSG00000213341 Genatlas:CHUK HGNC:1974 IUPHAR:1989 OMIM:600664 Reactome:O15111 SwissProt:O15111 CHUK component of inhibitor of nuclear factor kappa B kinase complex 1q24.2 CFAP67 FLJ37194 NM23-H7 cilia and flagella associated protein 67 ClinVar:NME7 Ensembl:ENSG00000143156 Genatlas:NME7 HGNC:20461 OMIM:613465 Reactome:Q9Y5B8 SwissProt:Q9Y5B8 NME7 NME/NM23 family member 7 16p13.11 GS-X glutathione S-conjugate export pump ClinVar:ABCC1 Ensembl:ENSG00000103222 Genatlas:ABCC1 HGNC:51 IUPHAR:779 OMIM:158343 Reactome:P33527 SwissProt:P33527 ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) 14q32.33 FLJ38602 ClinVar:ADSSL1 Ensembl:ENSG00000185100 Genatlas:ADSSL1 HGNC:20093 OMIM:612498 Reactome:Q8N142 SwissProt:Q8N142 ADSS1 adenylosuccinate synthase 1 1p34.3 argonaute 1 hAGO1 ClinVar:AGO1 Ensembl:ENSG00000092847 Genatlas:AGO1 HGNC:3262 OMIM:606228 Reactome:Q9UL18 SwissProt:Q9UL18 AGO1 argonaute RISC component 1 8q24.3 LINC00980 Q10 argonaute 2 hAGO2 ClinVar:AGO2 Ensembl:ENSG00000123908 Genatlas:AGO2 HGNC:3263 OMIM:606229 Reactome:Q9UKV8 SwissProt:Q9UKV8 AGO2 argonaute 2, RISC catalytic component 16p13.3 FLJ32345 FLJ32767 KIAA1977 ClinVar:ANKS3 Ensembl:ENSG00000168096 Genatlas:ANKS3 HGNC:29422 OMIM:617310 SwissProt:Q6ZW76 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 19p13.3 ADTD ClinVar:AP3D1 Ensembl:ENSG00000065000 Genatlas:AP3D1 HGNC:568 OMIM:607246 SwissProt:O14617 AP3D1 adaptor related protein complex 3 subunit delta 1 11q23.3 COPI coat complex subunit delta ClinVar:ARCN1 Ensembl:ENSG00000095139 Genatlas:ARCN1 HGNC:649 OMIM:600820 Reactome:P48444 SwissProt:P48444 ARCN1 archain 1 12q12 BAF200 DKFZp686G052 FLJ30619 KIAA1557 SMARCF3 ZIPZAP p200 ClinVar:ARID2 Ensembl:ENSG00000189079 Genatlas:ARID2 HGNC:18037 OMIM:609539 Reactome:Q68CP9 SwissProt:Q68CP9 ARID2 AT-rich interaction domain 2 1p36.33 FLJ10709 ClinVar:ATAD3A Ensembl:ENSG00000197785 Genatlas:ATAD3A HGNC:25567 OMIM:612316 Reactome:Q9NVI7 SwissProt:Q9NVI7 ATAD3A ATPase family AAA domain containing 3A 16p13.3 PPP1R49 protein phosphatase 1, regulatory subunit 49 ClinVar:AXIN1 Ensembl:ENSG00000103126 Genatlas:AXIN1 HGNC:903 OMIM:603816 Reactome:O15169 SwissProt:O15169 AXIN1 axin 1 Xq26.1 BCoR-L1 FLJ11362 ClinVar:BCORL1 Ensembl:ENSG00000085185 Genatlas:BCORL1 HGNC:25657 OMIM:300688 SwissProt:Q5H9F3 BCORL1 BCL6 corepressor like 1 5q13.2 HSA238520 KIAA1241 KIAA1689 TFC5 TFIIIB150 TFIIIB90 ClinVar:BDP1 Ensembl:ENSG00000145734 Genatlas:BDP1 HGNC:13652 OMIM:607012 Reactome:A6H8Y1 SwissProt:A6H8Y1 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB BTK-deficiency Bruton type agammaglobulinemia A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy. Orphanet ICD-10:D80.0 ICD-11:4A01.00 MeSH:C537409 MedDRA:10060360 OMIM:300310 OMIM:300755 UMLS:C0221026 Not applicable X-linked recessive Childhood Belarus AND has_point_prevalence_average_value : 0.06 AND has_point_prevalence_range : <1 / 1 000 000 Croatia AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.18 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 Hungary AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.21 AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 North Macedonia AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000 Romania AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 Serbia AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000 Slovenia AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.06 AND has_point_prevalence_range : <1 / 1 000 000 Ukraine AND has_point_prevalence_average_value : 0.04 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.26 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=47 X-linked agammaglobulinemia Clinical subtype ORPHA:47 ICD-10:D80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A01.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537409 E (Exact mapping: the two concepts are equivalent) MedDRA:10060360 E (Exact mapping: the two concepts are equivalent) OMIM:300310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300755 E (Exact mapping: the two concepts are equivalent) UMLS:C0221026 E (Exact mapping: the two concepts are equivalent) Hyperdibasic aminoaciduria LPI A rare disorder of amino acid absorption and transport characterized by a secondary urea cycle disorder with failure to thrive, hepatosplenomegaly, and a wide range of clinical manifestations including hematological (macrophagic activation syndrome or hemophagocytic lymphohistiocytosis, HLH), immune, digestive, renal, pulmonary and/or bones involvement. Orphanet ICD-10:E72.0 ICD-11:5C60.Y MeSH:C562687 MedDRA:10058300 OMIM:222700 UMLS:C0268647 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=470 Lysinuric protein intolerance ORPHA:470 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562687 E (Exact mapping: the two concepts are equivalent) MedDRA:10058300 E (Exact mapping: the two concepts are equivalent) OMIM:222700 E (Exact mapping: the two concepts are equivalent) UMLS:C0268647 E (Exact mapping: the two concepts are equivalent) 6q21 HBVES POP1 POPDC1 popeye domain containing 1 ClinVar:BVES Ensembl:ENSG00000112276 Genatlas:BVES HGNC:1152 OMIM:604577 SwissProt:Q8NE79 BVES blood vessel epicardial substance 11q14.2 HSPC138 HSPC179 OPI10 ClinVar:HIKESHI Ensembl:ENSG00000149196 Genatlas:HIKESHI HGNC:26938 OMIM:614908 Reactome:Q53FT3 SwissProt:Q53FT3 HIKESHI heat shock protein nuclear import factor hikeshi 19p13.3 MIC12 MIC13 P117 QIL1 Ensembl:ENSG00000174917 HGNC:33702 OMIM:616658 Reactome:Q5XKP0 SwissProt:Q5XKP0 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 21q22.3 A2 LRRC76 YF5 leucine rich repeat containing 76 nuclear encoded mitochondrial protein Ensembl:ENSG00000160226 HGNC:1260 OMIM:603191 Reactome:O43822 SwissProt:O43822 CFAP410 cilia and flagella associated protein 410 9q34.3 CACNN Cav2.2 ClinVar:CACNA1B Ensembl:ENSG00000148408 Genatlas:CACNA1B HGNC:1389 IUPHAR:533 OMIM:601012 Reactome:Q00975 SwissProt:Q00975 CACNA1B calcium voltage-gated channel subunit alpha1 B 13q34 FLJ12118 cysteine tRNA ligase 2, mitochondrial (putative) ClinVar:CARS2 Ensembl:ENSG00000134905 Genatlas:CARS2 HGNC:25695 OMIM:612800 Reactome:Q9HA77 SwissProt:Q9HA77 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial 2q21.1 FLJ30131 MGC12981 ccp1 ClinVar:CCDC115 Ensembl:ENSG00000136710 Genatlas:CCDC115 HGNC:28178 OMIM:613734 SwissProt:Q96NT0 CCDC115 coiled-coil domain containing 115 3p25.1 FLJ33839 ctr1 ClinVar:C3orf19 Ensembl:ENSG00000154781 Genatlas:C3orf19 HGNC:28033 OMIM:616735 Reactome:Q6PII3 SwissProt:Q6PII3 CCDC174 coiled-coil domain containing 174 19p13.3 CD27 ligand CD27-L CD27L CD70 antigen ClinVar:CD70 Ensembl:ENSG00000125726 Genatlas:CD70 HGNC:11937 OMIM:602840 Reactome:P32970 SwissProt:P32970 CD70 CD70 molecule 1p36.12 CDC42Hs G25K GTP binding protein, 25kDa ClinVar:CDC42 Ensembl:ENSG00000070831 Genatlas:CDC42 HGNC:1736 OMIM:116952 Reactome:P60953 SwissProt:P60953 CDC42 cell division cycle 42 22q13.31 ADGRC1 CDHF9 FMI2 HFMI2 ME2 adhesion G protein-coupled receptor C1 flamingo homolog 2 (Drosophila) ClinVar:CELSR1 Ensembl:ENSG00000075275 Genatlas:CELSR1 HGNC:1850 IUPHAR:178 OMIM:604523 SwissProt:Q9NYQ6 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 12p13.31 Mi-2b Mi2-BETA ClinVar:CHD4 Ensembl:ENSG00000111642 Genatlas:CHD4 HGNC:1919 OMIM:603277 Reactome:Q14839 SwissProt:Q14839 CHD4 chromodomain helicase DNA binding protein 4 1p36.31 ClinVar:CHD5 Ensembl:ENSG00000116254 Genatlas:CHD5 HGNC:16816 OMIM:610771 SwissProt:Q8TDI0 CHD5 chromodomain helicase DNA binding protein 5 15q26.1 CIB KIP SIP2-28 calmyrin ClinVar:CIB1 Ensembl:ENSG00000185043 Genatlas:CIB1 HGNC:16920 OMIM:602293 Reactome:Q99828 SwissProt:Q99828 CIB1 calcium and integrin binding 1 9q34.11 LSFR1 ZNF356 ClinVar:CIZ1 Ensembl:ENSG00000148337 Genatlas:CIZ1 HGNC:16744 OMIM:611420 SwissProt:Q9ULV3 CIZ1 CDKN1A interacting zinc finger protein 1 19p13.11 FLJ22329 Hydroxylysine galactosyltransferase Procollagen galactosyltransferase Ensembl:ENSG00000130309 HGNC:26182 OMIM:617531 Reactome:Q8NBJ5 SwissProt:Q8NBJ5 COLGALT1 collagen beta(1-O)galactosyltransferase 1 16p12.3 5-demethoxyubiquinone hydroxylase CAT5 CLK-1 ClinVar:COQ7 Ensembl:ENSG00000167186 Genatlas:COQ7 HGNC:2244 OMIM:601683 Reactome:Q99807 SwissProt:Q99807 COQ7 coenzyme Q7, hydroxylase 20p13 Casein kinase II subunit alpha Cka1 Cka2 ClinVar:CSNK2A1 Ensembl:ENSG00000101266 Genatlas:CSNK2A1 HGNC:2457 IUPHAR:1549 OMIM:115440 Reactome:P68400 SwissProt:P68400 CSNK2A1 casein kinase 2 alpha 1 11q12.1 KIAA0384 p120 p120cas p120ctn ClinVar:CTNND1 Ensembl:ENSG00000198561 Genatlas:CTNND1 HGNC:2515 OMIM:601045 Reactome:O60716 SwissProt:O60716 CTNND1 catenin delta 1 7q22.1 CASP CDP CDP/Cut CDP/Cux CDP1 CUT CUX CUX1 gene Alternatively Spliced Product Clox Cux/CDP GOLIM6 golgi integral membrane protein 6 ClinVar:CUX1 Ensembl:ENSG00000257923 Genatlas:CUX1 HGNC:2557 OMIM:116896 Reactome:P39880 SwissProt:P39880 CUX1 cut like homeobox 1 12q24.11-q24.12 CDP2 KIAA0293 ClinVar:CUX2 Ensembl:ENSG00000111249 Genatlas:CUX2 HGNC:19347 OMIM:610648 SwissProt:O14529 CUX2 cut like homeobox 2 5q35.3 ABS Abstrakt MGC8828 ClinVar:DDX41 Ensembl:ENSG00000183258 Genatlas:DDX41 HGNC:18674 OMIM:608170 Reactome:Q9UJV9 SwissProt:Q9UJV9 DDX41 DEAD-box helicase 41 16q22.2 KIAA0224 PRPF16 Prp16 hPrp16 pre-mRNA processing factor 16 ClinVar:DHX38 Ensembl:ENSG00000140829 Genatlas:DHX38 HGNC:17211 OMIM:605584 Reactome:Q92620 SwissProt:Q92620 DHX38 DEAH-box helicase 38 3p22.2 CFAP81 DLC1 FAP81 cilia and flagella associated protein 81 ClinVar:DLEC1 Ensembl:ENSG00000008226 Genatlas:DLEC1 HGNC:2899 OMIM:604050 SwissProt:Q9Y238 DLEC1 DLEC1 cilia and flagella associated protein 3q29 DLGH1 SAP-97 SAP97 dJ1061C18.1.1 discs large homolog 1 hdlg presynaptic protein SAP97 synapse-associated protein 97 ClinVar:DLG1 Ensembl:ENSG00000075711 Genatlas:DLG1 HGNC:2900 OMIM:601014 Reactome:Q12959 SwissProt:Q12959 DLG1 discs large MAGUK scaffold protein 1 7q21.3 ClinVar:DLX6 Ensembl:ENSG00000006377 Genatlas:DLX6 HGNC:2919 OMIM:600030 SwissProt:P56179 DLX6 distal-less homeobox 6 12q24.31 FLJ43808 ClinVar:DNAH10 Ensembl:ENSG00000197653 Genatlas:DNAH10 HGNC:2941 OMIM:605884 SwissProt:Q8IVF4 DNAH10 dynein axonemal heavy chain 10 Xp22.11 EIF2 EIF2gamma eukaryotic translation initiation factor 2G ClinVar:EIF2S3 Ensembl:ENSG00000130741 Genatlas:EIF2S3 HGNC:3267 OMIM:300161 Reactome:P41091 SwissProt:P41091 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma 1p36.13 ClinVar:EMC1 Ensembl:ENSG00000127463 Genatlas:EMC1 HGNC:28957 OMIM:616846 SwissProt:Q8N766 EMC1 ER membrane protein complex subunit 1 2p23.3 DKFZp586M121 EMILIN gp115 ClinVar:EMILIN1 Ensembl:ENSG00000138080 Genatlas:EMILIN1 HGNC:19880 OMIM:130660 Reactome:Q9Y6C2 SwissProt:Q9Y6C2 EMILIN1 elastin microfibril interfacer 1 7q22.1 EP ClinVar:EPO Ensembl:ENSG00000130427 Genatlas:EPO HGNC:3415 OMIM:133170 Reactome:P01588 SwissProt:P01588 EPO erythropoietin 5q12.3 ERBB2-interacting protein LAP2 densin-180-like protein ClinVar:ERBIN Ensembl:ENSG00000112851 Genatlas:ERBIN HGNC:15842 OMIM:606944 Reactome:Q96RT1 SwissProt:Q96RT1 ERBIN erbb2 interacting protein 1q42.11 CENP-30 FLJ10766 Fbx28 KIAA0483 centromere protein 30 ClinVar:FBXO28 Ensembl:ENSG00000143756 Genatlas:FBXO28 HGNC:29046 OMIM:609100 Reactome:Q9NVF7 SwissProt:Q9NVF7 FBXO28 F-box protein 28 1q21.3 FAD-adenylyl transferase FAD1 PP591 ClinVar:FLAD1 Ensembl:ENSG00000160688 Genatlas:FLAD1 HGNC:24671 OMIM:610595 Reactome:Q8NFF5 SwissProt:Q8NFF5 FLAD1 flavin adenine dinucleotide synthetase 1 20p11.21 ClinVar:FOXA2 Ensembl:ENSG00000125798 Genatlas:FOXA2 HGNC:5022 OMIM:600288 Reactome:Q9Y261 SwissProt:Q9Y261 FOXA2 forkhead box A2 9q22.33 GABABR2 GPRC3B HG20 ClinVar:GABBR2 Ensembl:ENSG00000136928 Genatlas:GABBR2 HGNC:4507 IUPHAR:241 OMIM:607340 Reactome:O75899 SwissProt:O75899 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 5q34 GABA(A) receptor, beta 2 ClinVar:GABRB2 Ensembl:ENSG00000145864 Genatlas:GABRB2 HGNC:4082 IUPHAR:411 OMIM:600232 Reactome:P47870 SwissProt:P47870 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 5q13.3 EF-G2mt EFG2 FLJ21661 ribosome releasing factor 2 ClinVar:GFM2 Ensembl:ENSG00000164347 Genatlas:GFM2 HGNC:29682 OMIM:606544 Reactome:Q969S9 SwissProt:Q969S9 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 20p11.21 KIAA0186 PSF1 ClinVar:GINS1 Ensembl:ENSG00000101003 Genatlas:GINS1 HGNC:28980 OMIM:610608 Reactome:Q14691 SwissProt:Q14691 GINS1 GINS complex subunit 1 16q11.2 ALT2 alanine aminotransferase 2 ClinVar:GPT2 Ensembl:ENSG00000166123 Genatlas:GPT2 HGNC:18062 OMIM:138210 Reactome:Q8TD30 SwissProt:Q8TD30 GPT2 glutamic--pyruvic transaminase 2 18q11.1-q11.2 C18orf6 FLJ13687 ClinVar:GREB1L Ensembl:ENSG00000141449 Genatlas:GREB1L HGNC:31042 OMIM:617782 SwissProt:Q9C091 GREB1L GREB1 like retinoic acid receptor coactivator 4q34.1 Hed Thing2 bHLHa26 dHand ClinVar:HAND2 Ensembl:ENSG00000164107 Genatlas:HAND2 HGNC:4808 OMIM:602407 SwissProt:P61296 HAND2 heart and neural crest derivatives expressed 2 HPRC A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). Orphanet ICD-10:C64 ICD-11:2C90.Y MeSH:C538614 MedDRA:10067943 OMIM:605074 UMLS:C0879257 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=47044 Hereditary papillary renal cell carcinoma ORPHA:47044 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538614 E (Exact mapping: the two concepts are equivalent) MedDRA:10067943 E (Exact mapping: the two concepts are equivalent) OMIM:605074 E (Exact mapping: the two concepts are equivalent) UMLS:C0879257 E (Exact mapping: the two concepts are equivalent) 6q22.31 HERP1 HESR2 bHLHb32 ClinVar:HEY2 Ensembl:ENSG00000135547 Genatlas:HEY2 HGNC:4881 OMIM:604674 Reactome:Q9UBP5 SwissProt:Q9UBP5 HEY2 hes related family bHLH transcription factor with YRPW motif 2 FCAS FCU Familial cold autoinflammatory syndrome Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. Orphanet ICD-10:L50.2 ICD-11:4A60.1 MedDRA:10064570 OMIM:120100 UMLS:C0343068 Autosomal dominant Adolescent Childhood Infancy Europe AND has_annual_incidence_range : Unknown Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=47045 Familial cold urticaria ORPHA:47045 ICD-10:L50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064570 E (Exact mapping: the two concepts are equivalent) OMIM:120100 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0343068 E (Exact mapping: the two concepts are equivalent) 6q24.2 HIV-EP2 MBP-2 MIBP1 Schnurri-2 ZAS2 ZNF40B c-myc intron binding protein 1 ClinVar:HIVEP2 Ensembl:ENSG00000010818 Genatlas:HIVEP2 HGNC:4921 OMIM:143054 SwissProt:P31629 HIVEP2 HIVEP zinc finger 2 22q12.3 HO-1 bK286B10 ClinVar:HMOX1 Ensembl:ENSG00000100292 Genatlas:HMOX1 HGNC:5013 IUPHAR:1441 OMIM:141250 Reactome:P09601 SwissProt:P09601 HMOX1 heme oxygenase 1 1q44 FLJ30202 FLJ37978 SAF-A scaffold attachment factor A ClinVar:HNRNPU Ensembl:ENSG00000153187 Genatlas:HNRNPU HGNC:5048 OMIM:602869 Reactome:Q00839 SwissProt:Q00839 HNRNPU heterogeneous nuclear ribonucleoprotein U 21q22.11 IFNalpha/beta receptor subunit 2 interferon alpha/beta receptor 2 type I interferon receptor 2 ClinVar:IFNAR2 Ensembl:ENSG00000159110 Genatlas:IFNAR2 HGNC:5433 IUPHAR:1724 OMIM:602376 Reactome:P48551 SwissProt:P48551 IFNAR2 interferon alpha and beta receptor subunit 2 20q13.12 CGI-53 NGD2 NGD5 dJ1028D15.1 ClinVar:IFT52 Ensembl:ENSG00000101052 Genatlas:IFT52 HGNC:15901 OMIM:617094 Reactome:Q9Y366 SwissProt:Q9Y366 IFT52 intraflagellar transport 52 3q13.12-q13.13 FLJ10147 HIPPI MHS4R2 ClinVar:IFT57 Ensembl:ENSG00000114446 Genatlas:IFT57 HGNC:17367 OMIM:606621 Reactome:Q9NWB7 SwissProt:Q9NWB7 IFT57 intraflagellar transport 57 9p21.2 CMG-1 CMG1 FLJ22621 capillary morphogenesis protein 1 ClinVar:IFT74 Ensembl:ENSG00000096872 Genatlas:IFT74 HGNC:21424 OMIM:608040 Reactome:Q96LB3 SwissProt:Q96LB3 IFT74 intraflagellar transport 74 15q15.1 INO80 complex subunit A INO80A KIAA1259 hINO80 ClinVar:INO80 Ensembl:ENSG00000128908 Genatlas:INO80 HGNC:26956 OMIM:610169 Reactome:Q9ULG1 SwissProt:Q9ULG1 INO80 INO80 complex ATPase subunit 3p25.2 ARF-GEP100 BRAG2 GEP100 KIAA0763 brefeldin A-resistant ARF-GEF2 ClinVar:IQSEC1 Ensembl:ENSG00000144711 Genatlas:IQSEC1 HGNC:29112 OMIM:610166 SwissProt:Q6DN90 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 6p25.3 LSIRF ClinVar:IRF4 Ensembl:ENSG00000137265 Genatlas:IRF4 HGNC:6119 OMIM:601900 Reactome:Q15306 SwissProt:Q15306 IRF4 interferon regulatory factor 4 11p15.5 ClinVar:IRF7 Ensembl:ENSG00000185507 Genatlas:IRF7 HGNC:6122 OMIM:605047 Reactome:Q92985 SwissProt:Q92985 IRF7 interferon regulatory factor 7 9q21.33 ISA1 MGC4276 hIscA hIscA1 ClinVar:ISCA1 Ensembl:ENSG00000135070 Genatlas:ISCA1 HGNC:28660 OMIM:611006 Reactome:Q9BUE6 SwissProt:Q9BUE6 ISCA1 iron-sulfur cluster assembly 1 6q13 Kv7.5 ClinVar:KCNQ5 Ensembl:ENSG00000185760 Genatlas:KCNQ5 HGNC:6299 IUPHAR:564 OMIM:607357 Reactome:Q9NR82 SwissProt:Q9NR82 KCNQ5 potassium voltage-gated channel subfamily Q member 5 1q32.1 CT31 PLU-1 PPP1R98 RBBP2H1A cancer/testis antigen 31 protein phosphatase 1, regulatory subunit 98 ClinVar:KDM5B Ensembl:ENSG00000117139 Genatlas:KDM5B HGNC:18039 IUPHAR:2681 OMIM:605393 Reactome:Q9UGL1 SwissProt:Q9UGL1 KDM5B lysine demethylase 5B 2p25.1 ARMS ankyrin repeat-rich membrane-spanning protein ClinVar:KIDINS220 Ensembl:ENSG00000134313 Genatlas:KIDINS220 HGNC:29508 OMIM:615759 Reactome:Q9ULH0 SwissProt:Q9ULH0 KIDINS220 kinase D interacting substrate 220 20q13.33 laminin alpha5-chain ClinVar:LAMA5 Ensembl:ENSG00000130702 Genatlas:LAMA5 HGNC:6485 OMIM:601033 Reactome:O15230 SwissProt:O15230 LAMA5 laminin subunit alpha 5 7q21.11 ACVRIP1 AIP1 ARIP1 KIAA0705 MAGI-2 activin receptor-interacting protein 1 ClinVar:MAGI2 Ensembl:ENSG00000187391 Genatlas:MAGI2 HGNC:18957 OMIM:606382 Reactome:Q86UL8 SwissProt:Q86UL8 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 5q11.2 IDAS MCI multicilin ClinVar:MCIDAS Ensembl:ENSG00000234602 Genatlas:MCIDAS HGNC:40050 OMIM:614086 Reactome:D6RGH6 SwissProt:D6RGH6 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein 7q11.23 ClinVar:MDH2 Ensembl:ENSG00000146701 Genatlas:MDH2 HGNC:6971 OMIM:154100 Reactome:P40926 SwissProt:P40926 MDH2 malate dehydrogenase 2 2q36.3 GL004 ClinVar:MFF Ensembl:ENSG00000168958 Genatlas:MFF HGNC:24858 OMIM:614785 SwissProt:Q9GZY8 MFF mitochondrial fission factor 13q12.12 MIP ClinVar:MIPEP Ensembl:ENSG00000027001 Genatlas:MIPEP HGNC:7104 OMIM:602241 SwissProt:Q99797 MIPEP mitochondrial intermediate peptidase 17p13.1 HSPC165 HSPC236 MOG1 MOG1 homolog (S. cerevisiae) RANGNRF ClinVar:RANGRF Ensembl:ENSG00000108961 Genatlas:RANGRF HGNC:17679 OMIM:607954 Reactome:Q9HD47 SwissProt:Q9HD47 RANGRF RAN guanine nucleotide release factor 22q12.2 AC004542.C22.1 KIAA0852 ZCW3 ClinVar:MORC2 Ensembl:ENSG00000133422 Genatlas:MORC2 HGNC:23573 OMIM:616661 Reactome:Q9Y6X9 SwissProt:Q9Y6X9 MORC2 MORC family CW-type zinc finger 2 6p21.33 G7 ClinVar:MSH5 Ensembl:ENSG00000204410 Genatlas:MSH5 HGNC:7328 OMIM:603382 Reactome:O43196 SwissProt:O43196 MSH5 mutS homolog 5 4q32.3 DESP4 ERG25 Ensembl:ENSG00000052802 HGNC:10545 OMIM:607545 Reactome:Q15800 SwissProt:Q15800 MSMO1 methylsterol monooxygenase 1 Xq12 ClinVar:MSN Ensembl:ENSG00000147065 Genatlas:MSN HGNC:7373 OMIM:309845 Reactome:P26038 SwissProt:P26038 MSN moesin 15q25.1 5,10-methenyltetrahydrofolate synthetase 5-formyltetrahydrofolate cyclo-ligase HsT19268 ClinVar:MTHFS Ensembl:ENSG00000136371 Genatlas:MTHFS HGNC:7437 OMIM:604197 Reactome:P49914 SwissProt:P49914 MTHFS methenyltetrahydrofolate synthetase 11q12.2 MRF Ndt80 myelin gene regulatory factor pqn-47 ClinVar:MYRF Ensembl:ENSG00000124920 Genatlas:MYRF HGNC:1181 OMIM:608329 SwissProt:Q9Y2G1 MYRF myelin regulatory factor 1p32.1 KIAA1915 ClinVar:MYSM1 Ensembl:ENSG00000162601 Genatlas:MYSM1 HGNC:29401 OMIM:612176 Reactome:Q5VVJ2 SwissProt:Q5VVJ2 MYSM1 Myb like, SWIRM and MPN domains 1 2p25.3 KIAA1106 NZF1 ZC2H2C2 ZC2HC4B neural zinc finger transcription factor 1 ClinVar:MYT1L Ensembl:ENSG00000186487 Genatlas:MYT1L HGNC:7623 OMIM:613084 SwissProt:Q9UL68 MYT1L myelin transcription factor 1 like 4q31.1 FLJ13340 NATH TBDN100 Ensembl:ENSG00000164134 HGNC:30782 OMIM:608000 Reactome:Q9BXJ9 SwissProt:Q9BXJ9 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit 22q13.2 B14 CI-B14 LYRM6 NADHB14 complex I B14 subunit ClinVar:NDUFA6 Ensembl:ENSG00000184983 Genatlas:NDUFA6 HGNC:7690 OMIM:602138 Reactome:P56556 SwissProt:P56556 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 16p13.3 PDSW complex I PDSW subunit ClinVar:NDUFB10 Ensembl:ENSG00000140990 Genatlas:NDUFB10 HGNC:7696 OMIM:603843 Reactome:O96000 SwissProt:O96000 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 18q21.31 KIAA0439 NEDD4-2 RSP5 ClinVar:NEDD4L Ensembl:ENSG00000049759 Genatlas:NEDD4L HGNC:7728 OMIM:606384 Reactome:Q96PU5 SwissProt:Q96PU5 NEDD4L NEDD4 like E3 ubiquitin protein ligase 16q22.1 KIAA0827 NF-AT5 NFATL1 NFATZ OREBP TONEBP tonicity-responsive enhancer binding protein ClinVar:NFAT5 Ensembl:ENSG00000102908 Genatlas:NFAT5 HGNC:7774 OMIM:604708 Reactome:O94916 SwissProt:O94916 NFAT5 nuclear factor of activated T cells 5 15q11.2 SLC57A2 ClinVar:NIPA2 Ensembl:ENSG00000140157 Genatlas:NIPA2 HGNC:17044 IUPHAR:3034 OMIM:608146 Reactome:Q8N8Q9 SwissProt:Q8N8Q9 NIPA2 NIPA magnesium transporter 2 17p13.1 NET1 NTN1L Netrin-1 ClinVar:NTN1 Ensembl:ENSG00000065320 Genatlas:NTN1 HGNC:8029 OMIM:601614 Reactome:O95631 SwissProt:O95631 NTN1 netrin 1 1q42.13 ARHGEF30 KIAA1556 KIAA1639 UNC89 ClinVar:OBSCN Ensembl:ENSG00000154358 Genatlas:OBSCN HGNC:15719 IUPHAR:2131 OMIM:608616 Reactome:Q5VST9 SwissProt:Q5VST9 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3p21.31 EGLN4 FLJ20262 HIFPH4 P4H-TM PH-4 PH4 PHD4 Prolyl hydroxlase domain-containing 4 hypoxia inducible factor prolyl 4 hydroxylase ClinVar:P4HTM Ensembl:ENSG00000178467 Genatlas:P4HTM HGNC:28858 OMIM:614584 SwissProt:Q9NXG6 P4HTM prolyl 4-hydroxylase, transmembrane 14q32.33 KIAA0602 ClinVar:PACS2 Ensembl:ENSG00000179364 Genatlas:PACS2 HGNC:23794 OMIM:610423 SwissProt:Q86VP3 PACS2 phosphofurin acidic cluster sorting protein 2 Xq24 HPR6.6 ClinVar:PGRMC1 Ensembl:ENSG00000101856 Genatlas:PGRMC1 HGNC:16090 OMIM:300435 Reactome:O00264 SwissProt:O00264 PGRMC1 progesterone receptor membrane component 1 6q14.1 BRWD2 DCAF14 DDB1 and CUL4 associated factor 14 FLJ20705 ndrp ClinVar:PHIP Ensembl:ENSG00000146247 Genatlas:PHIP HGNC:15673 IUPHAR:2776 OMIM:612870 SwissProt:Q8WWQ0 PHIP pleckstrin homology domain interacting protein 8q21.13 FABP8 M-FABP MP2 ClinVar:PMP2 Ensembl:ENSG00000147588 Genatlas:PMP2 HGNC:9117 IUPHAR:2544 OMIM:170715 SwissProt:P02689 PMP2 peripheral myelin protein 2 1q21.3 KIAA0461 ZNF280E ZNF635 ZNF635m putative protein product of Nbla00003 zinc finger protein 280E ClinVar:POGZ Ensembl:ENSG00000143442 Genatlas:POGZ HGNC:18801 OMIM:614787 Reactome:Q7Z3K3 SwissProt:Q7Z3K3 POGZ pogo transposable element derived with ZNF domain 2p23.2 MP PP-1B PP1B PP1beta PP1c PPP1beta myosin phosphatase ClinVar:PPP1CB Ensembl:ENSG00000213639 Genatlas:PPP1CB HGNC:9282 OMIM:600590 Reactome:P62140 SwissProt:P62140 PPP1CB protein phosphatase 1 catalytic subunit beta 9q34.12 PFM9 PR-domain containing protein 12 PR-domain zinc finger protein 12 ClinVar:PRDM12 Ensembl:ENSG00000130711 Genatlas:PRDM12 HGNC:13997 OMIM:616458 SwissProt:Q9H4Q4 PRDM12 PR/SET domain 12 8q24.3 FBP interacting repressor FIR Ro ribonucleoprotein binding protein 1 RoBPI SIAHBP1 pyrimidine tract binding splicing factor siah binding protein 1 ClinVar:PUF60 Ensembl:ENSG00000179950 Genatlas:PUF60 HGNC:17042 OMIM:604819 Reactome:Q9UHX1 SwissProt:Q9UHX1 PUF60 poly(U) binding splicing factor 60 7p22.1 Rac-1 TC-25 p21-Rac1 ClinVar:RAC1 Ensembl:ENSG00000136238 Genatlas:RAC1 HGNC:9801 OMIM:602048 Reactome:P63000 SwissProt:P63000 RAC1 Rac family small GTPase 1 16q22.1 LRRC16C RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein leucine rich repeat containing 16C Ensembl:ENSG00000159753 HGNC:27089 OMIM:610859 SwissProt:Q6F5E8 CARMIL2 capping protein regulator and myosin 1 linker 2 8p11.21 ADSA DKFZP564A022 ClinVar:RNF170 Ensembl:ENSG00000120925 Genatlas:RNF170 HGNC:25358 OMIM:614649 SwissProt:Q96K19 RNF170 ring finger protein 170 15q22.2 NR1F1 Nuclear receptor ROR-alpha RAR-related orphan nuclear receptor alpha ROR-alpha ROR1 ROR2 ROR3 RORa RORa1 RORalpha RZRA nuclear receptor subfamily 1 group F member 1 ClinVar:RORA Ensembl:ENSG00000069667 Genatlas:RORA HGNC:10258 IUPHAR:598 OMIM:600825 Reactome:P35398 SwissProt:P35398 RORA RAR related orphan receptor A 1q21.3 NR1F3 Nuclear receptor ROR-gamma RORG RZRG TOR ClinVar:RORC Ensembl:ENSG00000143365 Genatlas:RORC HGNC:10260 IUPHAR:600 OMIM:602943 Reactome:P51449 SwissProt:P51449 RORC RAR related orphan receptor C 17q21.31 60S ribosomal protein L27 L27 eL27 ClinVar:RPL27 Ensembl:ENSG00000131469 Genatlas:RPL27 HGNC:10328 OMIM:607526 Reactome:P61353 SwissProt:P61353 RPL27 ribosomal protein L27 2q11.2 L31 eL31 ClinVar:RPL31 Ensembl:ENSG00000071082 Genatlas:RPL31 HGNC:10334 OMIM:617415 Reactome:P62899 SwissProt:P62899 RPL31 ribosomal protein L31 4p14 L9 uL6 ClinVar:RPL9 Ensembl:ENSG00000163682 Genatlas:RPL9 HGNC:10369 OMIM:603686 Reactome:P32969 SwissProt:P32969 RPL9 ribosomal protein L9 1q21.3 MPS-1 MPS1 S27 eS27 metallopanstimulin 1 ClinVar:RPS27 Ensembl:ENSG00000177954 Genatlas:RPS27 HGNC:10416 OMIM:603702 Reactome:P42677 SwissProt:P42677 RPS27 ribosomal protein S27 19q13.33 Oncogene RRAS R-Ras RRAS1 ClinVar:RRAS Ensembl:ENSG00000126458 Genatlas:RRAS HGNC:10447 OMIM:165090 Reactome:P10301 SwissProt:P10301 RRAS RAS related 6q21 NIMP ClinVar:RTN4IP1 Ensembl:ENSG00000130347 Genatlas:RTN4IP1 HGNC:18647 OMIM:610502 Reactome:Q8WWV3 SwissProt:Q8WWV3 RTN4IP1 reticulon 4 interacting protein 1 4q28.2 FLJ30655 hCAP-1A ClinVar:SCLT1 Ensembl:ENSG00000151466 Genatlas:SCLT1 HGNC:26406 OMIM:611399 Reactome:Q96NL6 SwissProt:Q96NL6 SCLT1 sodium channel and clathrin linker 1 2q24.3 Nav1.3 ClinVar:SCN3A Ensembl:ENSG00000153253 Genatlas:SCN3A HGNC:10590 IUPHAR:580 OMIM:182391 Reactome:Q9NY46 SwissProt:Q9NY46 SCN3A sodium voltage-gated channel alpha subunit 3 11q13.1 GKLP HT019 MGC78454 NKTL P105 TAPK TEIF TRAP telomerase regulation-associated protein telomerase transcriptional elements-interacting factor teratoma-associated tyrosine kinase ClinVar:SCYL1 Ensembl:ENSG00000142186 Genatlas:SCYL1 HGNC:14372 IUPHAR:2195 OMIM:607982 SwissProt:Q96KG9 SCYL1 SCY1 like pseudokinase 1 15q24.2 DKFZP434K2235 KIAA0700 ClinVar:SIN3A Ensembl:ENSG00000169375 Genatlas:SIN3A HGNC:19353 OMIM:607776 Reactome:Q96ST3 SwissProt:Q96ST3 SIN3A SIN3 transcription regulator family member A 10q11.23 VACHT ClinVar:SLC18A3 Ensembl:ENSG00000187714 Genatlas:SLC18A3 HGNC:10936 IUPHAR:1013 OMIM:600336 Reactome:Q16572 SwissProt:Q16572 SLC18A3 solute carrier family 18 member A3 11p13 EAAT2 Excitatory amino acid transporter 2 GLT-1 GLT1 HBGT glutamate transporter-1 human brain glutamate transporter ClinVar:SLC1A2 Ensembl:ENSG00000110436 Genatlas:SLC1A2 HGNC:10940 IUPHAR:869 OMIM:600300 Reactome:P43004 SwissProt:P43004 SLC1A2 solute carrier family 1 member 2 8q22.3 MFTC ClinVar:SLC25A32 Ensembl:ENSG00000164933 Genatlas:SLC25A32 HGNC:29683 IUPHAR:1083 OMIM:138480 Reactome:Q9H2D1 SwissProt:Q9H2D1 SLC25A32 solute carrier family 25 member 32 2q24.2 NBCn2 NCBE ClinVar:SLC4A10 Ensembl:ENSG00000144290 Genatlas:SLC4A10 HGNC:13811 IUPHAR:911 OMIM:605556 Reactome:Q6U841 SwissProt:Q6U841 SLC4A10 solute carrier family 4 member 10 Xq23 ClinVar:SLC6A14 Ensembl:ENSG00000268104 Genatlas:SLC6A14 HGNC:11047 IUPHAR:937 OMIM:300444 Reactome:Q9UN76 SwissProt:Q9UN76 SLC6A14 solute carrier family 6 member 14 17q12 ClinVar:SLFN14 Ensembl:ENSG00000236320 Genatlas:SLFN14 HGNC:32689 OMIM:614958 SwissProt:P0C7P3 SLFN14 schlafen family member 14 18q21.1 JV18-1 MADR2 ClinVar:SMAD2 Ensembl:ENSG00000175387 Genatlas:SMAD2 HGNC:6768 OMIM:601366 Reactome:Q15796 SwissProt:Q15796 SMAD2 SMAD family member 2 12q13.2 BAF170 CRACC2 Rsc8 ClinVar:SMARCC2 Ensembl:ENSG00000139613 Genatlas:SMARCC2 HGNC:11105 OMIM:601734 Reactome:Q8TAQ2 SwissProt:Q8TAQ2 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 6q21 FLJ10159 ClinVar:SOBP Ensembl:ENSG00000112320 Genatlas:SOBP HGNC:29256 OMIM:613667 SwissProt:A7XYQ1 SOBP sine oculis binding protein homolog 21q22.11 BASS1 Bax antagonist selected in Saccharomyces 1 DBP-5 FLJ21099 FLJ33914 KIAA1019 NRE-binding protein NREBP negative regulatory element-binding protein ClinVar:SON Ensembl:ENSG00000159140 Genatlas:SON HGNC:11183 OMIM:182465 SwissProt:P18583 SON SON DNA and RNA binding protein 17q25.2 PR264 SC-35 SC35 SFRS2A SR splicing factor 2 ClinVar:SRSF2 Ensembl:ENSG00000161547 Genatlas:SRSF2 HGNC:10783 OMIM:600813 Reactome:Q01130 SwissProt:Q01130 SRSF2 serine and arginine rich splicing factor 2 3q22.3 SA-1 SA1 SCC3A cohesin subunit SA-1 sister chromatid cohesion 3 homolog (S. cerevisiae) A ClinVar:STAG1 Ensembl:ENSG00000118007 Genatlas:STAG1 HGNC:11354 OMIM:604358 Reactome:Q8WVM7 SwissProt:Q8WVM7 STAG1 STAG1 cohesin complex component Xq25 Cohesin subunit SA-2 SA-2 SA2 SA2 stromalin SCC3B sister chromatid cohesion 3 homolog (S. cerevisiae) B ClinVar:STAG2 Ensembl:ENSG00000101972 Genatlas:STAG2 HGNC:11355 OMIM:300826 Reactome:Q8N3U4 SwissProt:Q8N3U4 STAG2 STAG2 cohesin complex component 12q21.2 P65 ClinVar:SYT1 Ensembl:ENSG00000067715 Genatlas:SYT1 HGNC:11509 OMIM:185605 Reactome:P21579 SwissProt:P21579 SYT1 synaptotagmin 1 6q25.1 KIAA0733 TAK1 binding protein 2 ClinVar:TAB2 Ensembl:ENSG00000055208 Genatlas:TAB2 HGNC:17075 OMIM:605101 Reactome:Q9NYJ8 SwissProt:Q9NYJ8 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 17q25.3 ClinVar:TBCD Ensembl:ENSG00000141556 Genatlas:TBCD HGNC:11581 OMIM:604649 Reactome:Q9BTW9 SwissProt:Q9BTW9 TBCD tubulin folding cofactor D 2q24.2 ClinVar:TBR1 Ensembl:ENSG00000136535 Genatlas:TBR1 HGNC:11590 OMIM:604616 SwissProt:Q16650 TBR1 T-box brain transcription factor 1 22q13.2 AR1 SPBP stromelysin-1 platelet-derived growth factor-responsive element binding protein ClinVar:TCF20 Ensembl:ENSG00000100207 Genatlas:TCF20 HGNC:11631 OMIM:603107 SwissProt:Q9UGU0 TCF20 transcription factor 20 10q25.2-q25.3 TCF-4 ClinVar:TCF7L2 Ensembl:ENSG00000148737 Genatlas:TCF7L2 HGNC:11641 OMIM:602228 Reactome:Q9NQB0 SwissProt:Q9NQB0 TCF7L2 transcription factor 7 like 2 3q29 CD71 TFR1 p90 ClinVar:TFRC Ensembl:ENSG00000072274 Genatlas:TFRC HGNC:11763 IUPHAR:3196 OMIM:190010 Reactome:P02786 SwissProt:P02786 TFRC transferrin receptor 3q13.33 FLJ22597 ClinVar:TIMMDC1 Ensembl:ENSG00000113845 Genatlas:TIMMDC1 HGNC:1321 OMIM:615534 Reactome:Q9NPL8 SwissProt:Q9NPL8 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 17p13.1 JBTS29 MGC10744 MKS13 ClinVar:TMEM107 Ensembl:ENSG00000179029 Genatlas:TMEM107 HGNC:28128 OMIM:616183 Reactome:Q6UX40 SwissProt:Q6UX40 TMEM107 transmembrane protein 107 17q11.2 MGC45714 VMA12 VPH2 ClinVar:TMEM199 Ensembl:ENSG00000244045 Genatlas:TMEM199 HGNC:18085 OMIM:616815 Reactome:Q8N511 SwissProt:Q8N511 TMEM199 transmembrane protein 199 1p36.23 4-1BB CD137 ClinVar:TNFRSF9 Ensembl:ENSG00000049249 Genatlas:TNFRSF9 HGNC:11924 IUPHAR:1878 OMIM:602250 Reactome:Q07011 SwissProt:Q07011 TNFRSF9 TNF receptor superfamily member 9 4q32.1 TDO TPH2 ClinVar:TDO2 Ensembl:ENSG00000151790 Genatlas:TDO2 HGNC:11708 IUPHAR:2887 OMIM:191070 Reactome:P48775 SwissProt:P48775 TDO2 tryptophan 2,3-dioxygenase 5p15.2 ARHGEF23 ClinVar:TRIO Ensembl:ENSG00000038382 Genatlas:TRIO HGNC:12303 IUPHAR:2255 OMIM:601893 Reactome:O75962 SwissProt:O75962 TRIO trio Rho guanine nucleotide exchange factor 2q36.3 E3 ubiquitin-protein ligase for Arf KIAA0045 TRIPC ULF ClinVar:TRIP12 Ensembl:ENSG00000153827 Genatlas:TRIP12 HGNC:12306 OMIM:604506 Reactome:Q14669 SwissProt:Q14669 TRIP12 thyroid hormone receptor interactor 12 15q22.31 ASC-1 Activating Signal Cointegrator-1 HsT17391 ZC2HC5 zinc finger, C2HC5-type ClinVar:TRIP4 Ensembl:ENSG00000103671 Genatlas:TRIP4 HGNC:12310 OMIM:604501 SwissProt:Q15650 TRIP4 thyroid hormone receptor interactor 4 17q21.31 TUBGCP1 ClinVar:TUBG1 Ensembl:ENSG00000131462 Genatlas:TUBG1 HGNC:12417 OMIM:191135 Reactome:P23258 SwissProt:P23258 TUBG1 tubulin gamma 1 13q13.3 bA131P10.1 ClinVar:UFM1 Ensembl:ENSG00000120686 Genatlas:UFM1 HGNC:20597 OMIM:610553 SwissProt:P61960 UFM1 ubiquitin fold modifier 1 19q12 RIP1 RIS1 RISP UQCR5 cytochrome b-c1 complex subunit 5 ClinVar:UQCRFS1 Ensembl:ENSG00000169021 Genatlas:UQCRFS1 HGNC:12587 OMIM:191327 Reactome:P47985 SwissProt:P47985 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 16p13.2 ClinVar:USP7 Ensembl:ENSG00000187555 Genatlas:USP7 HGNC:12630 OMIM:602519 Reactome:Q93009 SwissProt:Q93009 USP7 ubiquitin specific peptidase 7 10p12.1 BM-016 FLJ31290 MGC10753 PRO1741 Wwp4 ClinVar:WAC Ensembl:ENSG00000095787 Genatlas:WAC HGNC:17327 OMIM:615049 Reactome:Q9BTA9 SwissProt:Q9BTA9 WAC WW domain containing adaptor with coiled-coil 1p12 TrpRS mtTrpRS tryptophan tRNA ligase 2, mitochondrial ClinVar:WARS2 Ensembl:ENSG00000116874 Genatlas:WARS2 HGNC:12730 OMIM:604733 Reactome:Q9UGM6 SwissProt:Q9UGM6 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial 21q22.3 TRM82 TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) TRMT82 Wuho ClinVar:WDR4 Ensembl:ENSG00000160193 Genatlas:WDR4 HGNC:12756 OMIM:605924 Reactome:P57081 SwissProt:P57081 WDR4 WD repeat domain 4 12q24.31 CaM-IP4 MGC33630 Ensembl:ENSG00000158023 HGNC:28506 OMIM:618146 SwissProt:Q8TBY9 CFAP251 cilia and flagella associated protein 251 2p15 CRM-1 CRM1 chromosome region maintenance 1 homolog (yeast) emb ClinVar:XPO1 Ensembl:ENSG00000082898 Genatlas:XPO1 HGNC:12825 IUPHAR:3014 OMIM:602559 Reactome:O14980 SwissProt:O14980 XPO1 exportin 1 14q32.2 DELTA INO80 complex subunit S INO80S NF-E1 UCRBP YIN-YANG-1 Yin and Yang 1 protein ClinVar:YY1 Ensembl:ENSG00000100811 Genatlas:YY1 HGNC:12856 OMIM:600013 Reactome:P25490 SwissProt:P25490 YY1 YY1 transcription factor 8q21.13 FLJ20980 ZFH4 ClinVar:ZFHX4 Ensembl:ENSG00000091656 Genatlas:ZFHX4 HGNC:30939 OMIM:606940 SwissProt:Q86UP3 ZFHX4 zinc finger homeobox 4 19q13.2 KIAA1951 MGC4267 ClinVar:ZNF526 Ensembl:ENSG00000167625 Genatlas:ZNF526 HGNC:29415 OMIM:614387 Reactome:Q8TF50 SwissProt:Q8TF50 ZNF526 zinc finger protein 526 UMLS:C5681265 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome Category ORPHA:471383 UMLS:C5681265 E (Exact mapping: the two concepts are equivalent) Renal tubular acidosis type 2 pRTA A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. Orphanet ICD-10:N25.8 ICD-11:GB90.44 MedDRA:10037080 OMIM:179830 OMIM:604278 UMLS:C0268435 Autosomal dominant Autosomal recessive Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=47159 Proximal renal tubular acidosis ORPHA:47159 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10037080 E (Exact mapping: the two concepts are equivalent) OMIM:179830 E (Exact mapping: the two concepts are equivalent) OMIM:604278 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268435 E (Exact mapping: the two concepts are equivalent) Cystoisosporiasis Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with <i>Isospora belli</i> (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss. Orphanet ICD-10:A07.3 ICD-11:1A33 MeSH:D021865 MedDRA:10023076 UMLS:C0311386 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=472 Isosporiasis ORPHA:472 ICD-10:A07.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A33 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D021865 E (Exact mapping: the two concepts are equivalent) MedDRA:10023076 E (Exact mapping: the two concepts are equivalent) UMLS:C0311386 E (Exact mapping: the two concepts are equivalent) Asphyxiating thoracic dystrophy of the newborn JATD Jeune asphyxiating thoracic dystrophy Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes. Orphanet ICD-10:Q77.2 ICD-11:LD24.B1 MeSH:C537571 MedDRA:10057621 OMIM:208500 OMIM:611263 OMIM:613091 OMIM:613819 OMIM:614376 OMIM:615630 OMIM:615633 OMIM:616300 OMIM:617088 OMIM:619479 UMLS:C0265275 Autosomal recessive Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 0.89 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=474 Jeune syndrome ORPHA:474 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.B1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537571 E (Exact mapping: the two concepts are equivalent) MedDRA:10057621 E (Exact mapping: the two concepts are equivalent) OMIM:208500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611263 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613819 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615630 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615633 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617088 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619479 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265275 E (Exact mapping: the two concepts are equivalent) Congenital anomaly of interventricular communication Congenital ventricular septal anomaly UMLS:C5680111 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=474347 Rare congenital anomaly of ventricular septum Clinical group ORPHA:474347 UMLS:C5680111 E (Exact mapping: the two concepts are equivalent) 2p21 CGI-60 D2LIC DKFZP564A033 LIC3 ClinVar:DYNC2LI1 Ensembl:ENSG00000138036 Genatlas:DYNC2LI1 HGNC:24595 OMIM:617083 Reactome:Q8TCX1 SwissProt:Q8TCX1 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 14q23.2-q23.3 ER beta ER-beta Erb NR3A2 estrogen receptor beta nuclear receptor subfamily 3 group A member 2 oestrogen receptor beta ClinVar:ESR2 Ensembl:ENSG00000140009 Genatlas:ESR2 HGNC:3468 IUPHAR:621 OMIM:601663 Reactome:Q92731 SwissProt:Q92731 ESR2 estrogen receptor 2 7q32.3 Gp200 PC PCLP PDX PODXL1 gp135 ClinVar:PODXL Ensembl:ENSG00000128567 Genatlas:PODXL HGNC:9171 OMIM:602632 Reactome:O00592 SwissProt:O00592 PODXL podocalyxin like 14q32.11 OGR1 ClinVar:GPR68 Ensembl:ENSG00000119714 Genatlas:GPR68 HGNC:4519 IUPHAR:114 OMIM:601404 Reactome:Q15743 SwissProt:Q15743 GPR68 G protein-coupled receptor 68 CPD IV Cerebelloparenchymal disorder IV Classic Joubert syndrome Joubert syndrome type A Joubert-Boltshauser syndrome Pure Joubert syndrome A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Orphanet ICD-10:Q04.3 ICD-11:LD20.00 MedDRA:10078574 OMIM:213300 OMIM:300804 OMIM:608091 OMIM:608629 OMIM:609583 OMIM:610188 OMIM:610688 OMIM:611560 OMIM:612285 OMIM:612291 OMIM:614173 OMIM:614424 OMIM:614464 OMIM:614465 OMIM:614615 OMIM:614815 OMIM:614970 OMIM:615636 OMIM:615665 OMIM:616490 OMIM:616654 OMIM:616781 OMIM:616784 OMIM:617120 OMIM:617121 OMIM:617622 OMIM:617757 OMIM:617761 OMIM:617767 OMIM:618161 OMIM:618763 OMIM:619185 OMIM:619476 OMIM:619562 OMIM:619582 UMLS:C0431399 Autosomal recessive Antenatal Italy AND has_point_prevalence_average_value : 0.47 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.6666 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=475 Joubert syndrome ORPHA:475 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10078574 E (Exact mapping: the two concepts are equivalent) OMIM:213300 E (Exact mapping: the two concepts are equivalent) OMIM:300804 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608629 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609583 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610188 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610688 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611560 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612285 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612291 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614173 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614424 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614464 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614465 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614615 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614815 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614970 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615636 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615665 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616490 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616654 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616781 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616784 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617121 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617622 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617757 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617761 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617767 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618161 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618763 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619185 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619476 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619562 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619582 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0431399 E (Exact mapping: the two concepts are equivalent) 7p12.3 PRO19563 polycystin-1L1 ClinVar:PKD1L1 Ensembl:ENSG00000158683 Genatlas:PKD1L1 HGNC:18053 OMIM:609721 SwissProt:Q8TDX9 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome BVES-related LGMD LGMD R25 BVES-related LGMD type 2X LGMD2X Limb-girdle muscular dystrophy 2X A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. Orphanet ICD-10:G71.0 OMIM:616812 UMLS:C5568138 Autosomal recessive Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476084 BVES-related limb-girdle muscular dystrophy ORPHA:476084 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616812 E (Exact mapping: the two concepts are equivalent) UMLS:C5568138 E (Exact mapping: the two concepts are equivalent) A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. Orphanet ICD-10:G60.8 UMLS:C5568137 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ORPHA:476093 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568137 E (Exact mapping: the two concepts are equivalent) EKC syndrome Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. Orphanet ICD-10:I42.0 OMIM:615821 UMLS:C5568136 Not applicable Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476096 Erythrokeratodermia-cardiomyopathy syndrome ORPHA:476096 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615821 E (Exact mapping: the two concepts are equivalent) UMLS:C5568136 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Behçet-like disease due to HA20 OBSOLETE: Behçet-like disease due to haploinsufficiency of A20 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Unclassified autoinflammatory syndrome OBSOLETE: Hereditary pediatric Behçet-like disease ORPHA:476102 Axonal HMSN UMLS:C5680107 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476109 Axonal hereditary motor and sensory neuropathy Clinical group ORPHA:476109 UMLS:C5680107 E (Exact mapping: the two concepts are equivalent) CID due to TFRC deficiency TFRC-related combined immunodeficiency A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume. Orphanet ICD-10:D81.8 OMIM:616740 UMLS:C5568133 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476113 Combined immunodeficiency due to TFRC deficiency ORPHA:476113 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616740 E (Exact mapping: the two concepts are equivalent) UMLS:C5568133 E (Exact mapping: the two concepts are equivalent) Demyelinating HMSN UMLS:C5680106 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476116 Demyelinating hereditary motor and sensory neuropathy Clinical group ORPHA:476116 UMLS:C5680106 E (Exact mapping: the two concepts are equivalent) A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet. Orphanet ICD-10:Q87.2 UMLS:C5681262 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681262 E (Exact mapping: the two concepts are equivalent) Splenomegaly-neutropenia-rheumatoid arthritis syndrome Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. Orphanet ICD-10:M05.0 ICD-11:FA20.0 MeSH:D005258 MedDRA:10016386 OMIM:134750 UMLS:C0015773 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=47612 Felty syndrome ORPHA:47612 ICD-10:M05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FA20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005258 E (Exact mapping: the two concepts are equivalent) MedDRA:10016386 E (Exact mapping: the two concepts are equivalent) OMIM:134750 E (Exact mapping: the two concepts are equivalent) UMLS:C0015773 E (Exact mapping: the two concepts are equivalent) Intermediate CMT Intermediate hereditary motor and sensory neuropathy ICD-11:8C20.2 UMLS:C5680108 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476123 Intermediate Charcot-Marie-Tooth disease Clinical group ORPHA:476123 ICD-11:8C20.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680108 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others. Orphanet ICD-10:Q87.8 OMIM:617061 UMLS:C5568801 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome ORPHA:476126 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617061 E (Exact mapping: the two concepts are equivalent) UMLS:C5568801 E (Exact mapping: the two concepts are equivalent) 17p13.1 MNR OFD1 and FOPNL interacting protein OFD1 and FOR20 interacting protein OFIP moonraker ClinVar:KIAA0753 Ensembl:ENSG00000198920 Genatlas:KIAA0753 HGNC:29110 OMIM:617112 Reactome:Q2KHM9 SwissProt:Q2KHM9 KIAA0753 KIAA0753 19q13.42 BB1 LPIAT LPIAT1 LPLAT LPLAT11 hMBOA-7 lysophosphatidylinositol acyltransferase lysophosphatidylinositol acyltransferase 1 lysophospholipid acyltransferase 11 lysophospholipid acyltransferase 7 ClinVar:MBOAT7 Ensembl:ENSG00000125505 Genatlas:MBOAT7 HGNC:15505 OMIM:606048 Reactome:Q96N66 SwissProt:Q96N66 MBOAT7 membrane bound O-acyltransferase domain containing 7 12q24.31 MGC20089 P2X7 ClinVar:P2RX7 Ensembl:ENSG00000089041 Genatlas:P2RX7 HGNC:8537 IUPHAR:484 OMIM:602566 Reactome:Q99572 SwissProt:Q99572 P2RX7 purinergic receptor P2X 7 Xq22.3 DNAAF6 MGC35261 NYSAR97 TWISTER dynein axonemal assembly factor 6 sarcoma antigen NY-SAR-97 ClinVar:PIH1D3 Ensembl:ENSG00000080572 Genatlas:PIH1D3 HGNC:28570 OMIM:300933 Reactome:Q9NQM4 SwissProt:Q9NQM4 DNAAF6 PIH1 domain containing 3 PMP2-related CMT1 PMP2-related Charcot-Marie-Tooth neuropathy type 1 PMP2-related hereditary motor and sensory neuropathy type 1 A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. Orphanet ICD-10:G60.0 OMIM:618279 UMLS:C5567891 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476394 PMP2-related Charcot-Marie-Tooth disease type 1 ORPHA:476394 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618279 E (Exact mapping: the two concepts are equivalent) UMLS:C5567891 E (Exact mapping: the two concepts are equivalent) UMLS:C5681263 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476403 Hypercontractile muscle stiffness syndrome Clinical group ORPHA:476403 UMLS:C5681263 E (Exact mapping: the two concepts are equivalent) A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features. Orphanet ICD-10:G71.2 UMLS:C5567789 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=476406 Congenital generalized hypercontractile muscle stiffness syndrome ORPHA:476406 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567789 E (Exact mapping: the two concepts are equivalent) 2p22.2 ClinVar:CRIM1 Ensembl:ENSG00000150938 Genatlas:CRIM1 HGNC:2359 OMIM:606189 SwissProt:Q9NZV1 CRIM1 cysteine rich transmembrane BMP regulator 1 13q14.2 CYSLT2R CysLT(2) ClinVar:CYSLTR2 Ensembl:ENSG00000152207 Genatlas:CYSLTR2 HGNC:18274 IUPHAR:270 OMIM:605666 Reactome:Q9NS75 SwissProt:Q9NS75 CYSLTR2 cysteinyl leukotriene receptor 2 4q35.2 ClinVar:DUX4 Ensembl:ENSG00000260596 Genatlas:DUX4 HGNC:50800 OMIM:606009 Reactome:Q9UBX2 SwissProt:Q9UBX2 DUX4 double homeobox 4 11q23.3 PEP5 RNF108 ClinVar:VPS11 Ensembl:ENSG00000160695 Genatlas:VPS11 HGNC:14583 OMIM:608549 SwissProt:Q9H270 VPS11 VPS11 core subunit of CORVET and HOPS complexes 1q31.1 cPLA2-alpha ClinVar:PLA2G4A Ensembl:ENSG00000116711 Genatlas:PLA2G4A HGNC:9035 IUPHAR:1424 OMIM:600522 Reactome:P47712 SwissProt:P47712 PLA2G4A phospholipase A2 group IVA 3p14.1 S-adenosylmethionine mitochondrial carrier protein SAMC ClinVar:SLC25A26 Ensembl:ENSG00000144741 Genatlas:SLC25A26 HGNC:20661 IUPHAR:1074 OMIM:611037 Reactome:Q70HW3 SwissProt:Q70HW3 SLC25A26 solute carrier family 25 member 26 4q24 BCG-induced integral membrane protein in monocyte clone 103 BIGM103 Metal cation symporter ZIP8 ZIP-8 ZIP8 ZRT/IRT-like protein 8 Zinc transporter ZIP8 ClinVar:SLC39A8 Ensembl:ENSG00000138821 Genatlas:SLC39A8 HGNC:20862 IUPHAR:1187 OMIM:608732 Reactome:Q9C0K1 SwissProt:Q9C0K1 SLC39A8 solute carrier family 39 member 8 Ichthyosis hystrix Rheydt type KID/HID syndrome Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome Senter syndrome A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Orphanet ICD-10:Q80.8 ICD-11:LD27.2 MeSH:C536168 MedDRA:10048786 OMIM:148210 OMIM:242150 OMIM:602540 UMLS:C0265336 Autosomal dominant Autosomal recessive Not applicable Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477 KID syndrome ORPHA:477 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536168 E (Exact mapping: the two concepts are equivalent) MedDRA:10048786 E (Exact mapping: the two concepts are equivalent) OMIM:148210 E (Exact mapping: the two concepts are equivalent) OMIM:242150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602540 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265336 E (Exact mapping: the two concepts are equivalent) 17p11.2 FLJ25987 MGC8385 polyubiquitin B ClinVar:UBB Ensembl:ENSG00000170315 Genatlas:UBB HGNC:12463 OMIM:191339 Reactome:P0CG47 SwissProt:P0CG47 UBB ubiquitin B 10p13 FLJ10210 KIAA1294 bA295P9.4 ClinVar:FRMD4A Ensembl:ENSG00000151474 Genatlas:FRMD4A HGNC:25491 OMIM:616305 SwissProt:Q9P2Q2 FRMD4A FERM domain containing 4A 3p21.2 3PK 3pK MAPKAP3 MK-3 MK3 ClinVar:MAPKAPK3 Ensembl:ENSG00000114738 Genatlas:MAPKAPK3 HGNC:6888 IUPHAR:2095 OMIM:602130 Reactome:Q16644 SwissProt:Q16644 MAPKAPK3 MAPK activated protein kinase 3 12p11.23 CFAP48 IP3R2 cilia and flagella associated protein 48 ClinVar:ITPR2 Ensembl:ENSG00000123104 Genatlas:ITPR2 HGNC:6181 IUPHAR:744 OMIM:600144 Reactome:Q14571 SwissProt:Q14571 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 22q12.3 FLJ12242 ClinVar:KCTD17 Ensembl:ENSG00000100379 Genatlas:KCTD17 HGNC:25705 OMIM:616386 Reactome:Q8N5Z5 SwissProt:Q8N5Z5 KCTD17 potassium channel tetramerization domain containing 17 13q14.2 CLLD7 CLLL7 FLJ10716 ClinVar:RCBTB1 Ensembl:ENSG00000136144 Genatlas:RCBTB1 HGNC:18243 OMIM:607867 SwissProt:Q8NDN9 RCBTB1 RCC1 and BTB domain containing protein 1 9q21.2 ClinVar:GNA14 Ensembl:ENSG00000156049 Genatlas:GNA14 HGNC:4382 OMIM:604397 Reactome:O95837 SwissProt:O95837 GNA14 G protein subunit alpha 14 1p36.22 FANCV MAD2B POLZ2 REV7 mitotic arrest deficient homolog-like 2 polymerase (DNA-directed), zeta 2, accessory subunit ClinVar:MAD2L2 Ensembl:ENSG00000116670 Genatlas:MAD2L2 HGNC:6764 OMIM:604094 Reactome:Q9UI95 SwissProt:Q9UI95 MAD2L2 mitotic arrest deficient 2 like 2 1p36.13 PDI3 ClinVar:PADI3 Ensembl:ENSG00000142619 Genatlas:PADI3 HGNC:18337 IUPHAR:2878 OMIM:606755 Reactome:Q9ULW8 SwissProt:Q9ULW8 PADI3 peptidyl arginine deiminase 3 20p13 E polypeptide, protein-glutamine-gamma-glutamyltransferase TGE ClinVar:TGM3 Ensembl:ENSG00000125780 Genatlas:TGM3 HGNC:11779 OMIM:600238 SwissProt:Q08188 TGM3 transglutaminase 3 17q21.32 ALC1 AMLC GT1 PRO1957 atrial myosin light chain 1 myosin, atrial/fetal muscle, light chain ClinVar:MYL4 Ensembl:ENSG00000198336 Genatlas:MYL4 HGNC:7585 OMIM:160770 Reactome:P12829 SwissProt:P12829 MYL4 myosin light chain 4 UMLS:C5681258 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477647 Type 1 interferonopathy Category ORPHA:477647 UMLS:C5681258 E (Exact mapping: the two concepts are equivalent) A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition. Orphanet ICD-10:M06.4 ICD-11:FB51.3 UMLS:C1302753 Adolescent Adult Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477650 Fibroblastic rheumatism ORPHA:477650 ICD-10:M06.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB51.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1302753 E (Exact mapping: the two concepts are equivalent) IL21-related infantile IBD A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal. Orphanet ICD-10:D84.8 OMIM:615767 UMLS:C5567788 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477661 IL21-related infantile inflammatory bowel disease ORPHA:477661 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615767 E (Exact mapping: the two concepts are equivalent) UMLS:C5567788 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Aymé-Gripp syndrome OBSOLETE: AymÚ-Gripp syndrome ORPHA:477668 A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. Orphanet ICD-10:G11.4 OMIM:616281 UMLS:C5567787 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome ORPHA:477673 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616281 E (Exact mapping: the two concepts are equivalent) UMLS:C5567787 E (Exact mapping: the two concepts are equivalent) COXPD26 A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes. Orphanet ICD-10:E88.8 OMIM:616539 UMLS:C5567741 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477684 Combined oxidative phosphorylation defect type 26 ORPHA:477684 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616539 E (Exact mapping: the two concepts are equivalent) UMLS:C5567741 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Familial platelet disorder with predisposition to hematological cancer This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial platelet disorder with associated myeloid malignancy OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome ORPHA:477697 Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. Orphanet ICD-10:G35 UMLS:C5568571 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477738 Pediatric multiple sclerosis ORPHA:477738 ICD-10:G35 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568571 E (Exact mapping: the two concepts are equivalent) Pseudosarcomatous fasciitis Pseudosarcomatous fibromatosis A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur. Orphanet ICD-10:M79.8 ICD-11:FB51.2 MedDRA:10065988 UMLS:C0410005 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477742 Nodular fasciitis ORPHA:477742 ICD-10:M79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065988 E (Exact mapping: the two concepts are equivalent) UMLS:C0410005 E (Exact mapping: the two concepts are equivalent) PADMAL A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres. Orphanet ICD-10:I67.8 OMIM:618564 UMLS:C5231411 Autosomal dominant Adult Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy ORPHA:477749 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618564 E (Exact mapping: the two concepts are equivalent) UMLS:C5231411 E (Exact mapping: the two concepts are equivalent) UMLS:C5681259 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477754 Genetic cerebral small vessel disease Category ORPHA:477754 UMLS:C5681259 E (Exact mapping: the two concepts are equivalent) COL4A1 or COL4A2-related cerebral angiopathy UMLS:C5680103 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477759 COL4A1 or COL4A2-related cerebral small vessel disease Category ORPHA:477759 UMLS:C5680103 E (Exact mapping: the two concepts are equivalent) COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency UMLS:C5680105 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency Clinical group ORPHA:477762 UMLS:C5680105 E (Exact mapping: the two concepts are equivalent) COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency UMLS:C5680104 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency Clinical group ORPHA:477765 UMLS:C5680104 E (Exact mapping: the two concepts are equivalent) UMLS:C5681261 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477768 Moyamoya angiopathy Clinical group ORPHA:477768 UMLS:C5681261 E (Exact mapping: the two concepts are equivalent) UMLS:C5681260 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477771 Rare disorder with a moyamoya angiopathy Category ORPHA:477771 UMLS:C5681260 E (Exact mapping: the two concepts are equivalent) COXPD27 A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities. Orphanet ICD-10:E88.8 OMIM:616672 UMLS:C5567608 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477774 Combined oxidative phosphorylation defect type 27 ORPHA:477774 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616672 E (Exact mapping: the two concepts are equivalent) UMLS:C5567608 E (Exact mapping: the two concepts are equivalent) Type 1 condylar hyperplasia A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion. Orphanet ICD-10:K07.6 UMLS:C5568570 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477781 Primary condylar hyperplasia ORPHA:477781 ICD-10:K07.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568570 E (Exact mapping: the two concepts are equivalent) PLA2G4A-related platelet dysfunction Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcers. Mildly reduced levels of coagulation factor XI have been reported in addition. Orphanet ICD-10:D69.1 OMIM:618372 UMLS:C5567651 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder ORPHA:477787 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618372 E (Exact mapping: the two concepts are equivalent) UMLS:C5567651 E (Exact mapping: the two concepts are equivalent) UMLS:C5681257 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477794 Syndromic constitutional thrombocytopenia Category ORPHA:477794 UMLS:C5681257 E (Exact mapping: the two concepts are equivalent) Constitutional thrombocytopenia without extra-hematopoietic manifestations Non-syndromic constitutional thrombocytopenia UMLS:C5680102 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477797 Isolated constitutional thrombocytopenia Category ORPHA:477797 UMLS:C5680102 E (Exact mapping: the two concepts are equivalent) UMLS:C5681255 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477805 Genetic cardiac malformation Category ORPHA:477805 UMLS:C5681255 E (Exact mapping: the two concepts are equivalent) UMLS:C5681256 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477808 Other genetic dermis disorder Category ORPHA:477808 UMLS:C5681256 E (Exact mapping: the two concepts are equivalent) UMLS:C5681254 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477811 Rare hypercholesterolemia Category ORPHA:477811 UMLS:C5681254 E (Exact mapping: the two concepts are equivalent) Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. Orphanet ICD-10:Q02 OMIM:616632 UMLS:C5567650 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616632 E (Exact mapping: the two concepts are equivalent) UMLS:C5567650 E (Exact mapping: the two concepts are equivalent) 17p11.2p12 microduplication syndrome Dup(17)(p11.2p12) Trisomy 17p11.2-p12 Trisomy 17p11.2p12 Yuan-Harel-Lupski syndrome A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed. Orphanet ICD-10:Q92.3 OMIM:616652 UMLS:C4225255 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477817 PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616652 E (Exact mapping: the two concepts are equivalent) UMLS:C4225255 E (Exact mapping: the two concepts are equivalent) Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies. Orphanet ICD-10:Q87.3 ICD-11:LD2C MedDRA:10081313 OMIM:616592 UMLS:C4225270 No data available Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477831 Kosaki overgrowth syndrome ORPHA:477831 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10081313 E (Exact mapping: the two concepts are equivalent) OMIM:616592 E (Exact mapping: the two concepts are equivalent) UMLS:C4225270 E (Exact mapping: the two concepts are equivalent) MSMD due to complete RORgamma receptor defiency Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency Primary immunodeficiency due to RORC mutation A rare primary immunodeficiency characterized by increased susceptibility to infections with <i>candida albicans</i> and weakly pathogenic mycobacteria, such as <i>mycobacterium bovis</i>. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells. Orphanet ICD-10:D84.8 OMIM:616622 UMLS:C5567647 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477857 Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ORPHA:477857 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616622 E (Exact mapping: the two concepts are equivalent) UMLS:C5567647 E (Exact mapping: the two concepts are equivalent) Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. Orphanet ICD-10:Q87.8 OMIM:616728 UMLS:C5567644 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616728 E (Exact mapping: the two concepts are equivalent) UMLS:C5567644 E (Exact mapping: the two concepts are equivalent) Congenital hypogonadotropic hypogonadism with anosmia Olfacto-genital pathological sequence Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). Orphanet ICD-10:E23.0 ICD-11:5A61.2 MeSH:D017436 MedDRA:10053142 OMIM:147950 OMIM:244200 OMIM:308700 OMIM:610628 OMIM:612370 OMIM:612702 OMIM:614837 OMIM:614838 OMIM:614840 OMIM:614858 OMIM:614880 OMIM:614897 OMIM:615266 OMIM:615267 OMIM:615269 OMIM:615270 OMIM:615271 OMIM:616030 OMIM:618841 UMLS:C0162809 Autosomal dominant Autosomal recessive Multigenic/multifactorial X-linked recessive Adolescent Childhood Europe AND has_point_prevalence_average_value : 3.75 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=478 Kallmann syndrome Clinical subtype ORPHA:478 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A61.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017436 E (Exact mapping: the two concepts are equivalent) MedDRA:10053142 E (Exact mapping: the two concepts are equivalent) OMIM:147950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:244200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610628 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612702 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614837 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614838 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614840 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614858 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614880 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614897 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615266 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615267 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615269 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615271 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618841 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0162809 E (Exact mapping: the two concepts are equivalent) COXPD29 A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination. Orphanet ICD-10:E88.8 OMIM:616811 UMLS:C5567607 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=478029 Combined oxidative phosphorylation defect type 29 ORPHA:478029 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616811 E (Exact mapping: the two concepts are equivalent) UMLS:C5567607 E (Exact mapping: the two concepts are equivalent) COXPD30 A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle. Orphanet ICD-10:E88.8 OMIM:616974 UMLS:C5567605 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=478042 Combined oxidative phosphorylation defect type 30 ORPHA:478042 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616974 E (Exact mapping: the two concepts are equivalent) UMLS:C5567605 E (Exact mapping: the two concepts are equivalent) Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. Orphanet ICD-10:E88.8 OMIM:617228 UMLS:C5567603 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617228 E (Exact mapping: the two concepts are equivalent) UMLS:C5567603 E (Exact mapping: the two concepts are equivalent) 4q13.1 DKFZp313B2333 DKFZp313D0829 GPSN2L SRD5A2L2 TERL glycoprotein, synaptic 2-like Ensembl:ENSG00000205678 HGNC:27365 OMIM:617242 Reactome:Q5HYJ1 SwissProt:Q5HYJ1 TECRL trans-2,3-enoyl-CoA reductase like 19q13.2 HU-K4 ClinVar:PLD3 Ensembl:ENSG00000105223 Genatlas:PLD3 HGNC:17158 OMIM:615698 Reactome:Q8IV08 SwissProt:Q8IV08 PLD3 phospholipase D family member 3 1p36.12 BHC110 KIAA0601 LSD1 Lysine-specific histone demethylase 1A ClinVar:KDM1A Ensembl:ENSG00000004487 Genatlas:KDM1A HGNC:29079 IUPHAR:2669 OMIM:609132 Reactome:O60341 SwissProt:O60341 KDM1A lysine demethylase 1A HSAN8 Hereditary sensory and autonomic neuropathy type VIII A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal. Orphanet ICD-10:G60.8 OMIM:616488 UMLS:C4225308 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 11.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=478664 Hereditary sensory and autonomic neuropathy type 8 ORPHA:478664 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616488 E (Exact mapping: the two concepts are equivalent) UMLS:C4225308 E (Exact mapping: the two concepts are equivalent) 13q12.13 DKFZp686P0776 RING-H2 protein RNF-6 ClinVar:RNF6 Ensembl:ENSG00000127870 Genatlas:RNF6 HGNC:10069 OMIM:604242 Reactome:Q9Y252 SwissProt:Q9Y252 RNF6 ring finger protein 6 5q13-q22 GGF2 HGF2 HGNC:14252 GINGF2 gingival fibromatosis, hereditary, 2 9q22.31 IARS1 ILRS isoleucine tRNA ligase 1, cytoplasmic ClinVar:IARS Ensembl:ENSG00000196305 Genatlas:IARS HGNC:5330 OMIM:600709 Reactome:P41252 SwissProt:P41252 IARS1 isoleucyl-tRNA synthetase 1 22q11.21 DKFZp761P1121 ClinVar:TANGO2 Ensembl:ENSG00000183597 Genatlas:TANGO2 HGNC:25439 OMIM:616830 SwissProt:Q6ICL3 TANGO2 transport and golgi organization 2 homolog 18q21.33 SKD1B VPS4-2 ClinVar:VPS4B Ensembl:ENSG00000119541 Genatlas:VPS4B HGNC:10895 OMIM:609983 Reactome:O75351 SwissProt:O75351 VPS4B vacuolar protein sorting 4 homolog B 15q23 FLJ11061 FLJ13244 MGC71859 ClinVar:MYO9A Ensembl:ENSG00000066933 Genatlas:MYO9A HGNC:7608 OMIM:604875 Reactome:B2RTY4 SwissProt:B2RTY4 MYO9A myosin IXA 1q21.3 DRES-17 H-PRUNE HTCD37 Ensembl:ENSG00000143363 HGNC:13420 OMIM:617413 SwissProt:Q86TP1 PRUNE1 prune exopolyphosphatase 1 10q24.33 FISH KIAA0418 five SH3 domains ClinVar:SH3PXD2A Ensembl:ENSG00000107957 Genatlas:SH3PXD2A HGNC:23664 OMIM:619455 Reactome:Q5TCZ1 SwissProt:Q5TCZ1 SH3PXD2A SH3 and PX domains 2A Congenital bilateral agenesis of vas deferens Congenital bilateral aplasia of vas deferens A rare non-syndromic urogenital tract malformation characterized by improper development of the vas deferens leading to male infertility. Orphanet ICD-10:Q55.4 ICD-11:LB57 MeSH:C535984 MedDRA:10010670 OMIM:277180 OMIM:300985 UMLS:C0403814 Multigenic/multifactorial Adolescent Adult Europe AND has_point_prevalence_average_value : 50.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48 Congenital bilateral absence of vas deferens ORPHA:48 ICD-10:Q55.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB57 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535984 E (Exact mapping: the two concepts are equivalent) MedDRA:10010670 E (Exact mapping: the two concepts are equivalent) OMIM:277180 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300985 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0403814 E (Exact mapping: the two concepts are equivalent) A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. Orphanet ICD-10:H49.8 ICD-11:9C82.0 MeSH:D007625 MedDRA:10048804 OMIM:530000 UMLS:C0022541 Autosomal recessive Mitochondrial inheritance Not applicable Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480 Kearns-Sayre syndrome ORPHA:480 ICD-10:H49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9C82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007625 E (Exact mapping: the two concepts are equivalent) MedDRA:10048804 E (Exact mapping: the two concepts are equivalent) OMIM:530000 E (Exact mapping: the two concepts are equivalent) UMLS:C0022541 E (Exact mapping: the two concepts are equivalent) NR1H4 deficiency PFIC5 ICD-10:K76.8 ICD-11:5C58.03 OMIM:617049 UMLS:C4310747 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480476 Progressive familial intrahepatic cholestasis type 5 Clinical subtype ORPHA:480476 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617049 E (Exact mapping: the two concepts are equivalent) UMLS:C4310747 E (Exact mapping: the two concepts are equivalent) PFIC4 TJP2 deficit ICD-10:K76.8 OMIM:615878 UMLS:C2931067 Childhood Infancy Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480483 Progressive familial intrahepatic cholestasis type 4 Clinical subtype ORPHA:480483 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615878 E (Exact mapping: the two concepts are equivalent) UMLS:C2931067 E (Exact mapping: the two concepts are equivalent) MYO5B deficiency ICD-10:K76.8 ICD-11:5C58.03 OMIM:619868 UMLS:C5680100 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480491 MYO5B-related progressive familial intrahepatic cholestasis Clinical subtype ORPHA:480491 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619868 E (Exact mapping: the two concepts are equivalent) UMLS:C5680100 E (Exact mapping: the two concepts are equivalent) Congenital cystic dilatation of the biliary tract A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased. Orphanet ICD-10:Q44.4 ICD-11:LB20.20 MeSH:D015529 UMLS:C0008340 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480501 Choledochal cyst ORPHA:480501 ICD-10:Q44.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB20.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015529 E (Exact mapping: the two concepts are equivalent) UMLS:C0008340 E (Exact mapping: the two concepts are equivalent) PIHL Primary hepatolithiasis A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported. Orphanet ICD-10:K80.3 UMLS:C5576557 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480506 Primary intrahepatic lithiasis ORPHA:480506 ICD-10:K80.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5576557 E (Exact mapping: the two concepts are equivalent) IAD Idiopathic adult ductopenia A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes. Orphanet ICD-10:K83.8 UMLS:C0022230 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480512 Idiopathic ductopenia ORPHA:480512 ICD-10:K83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0022230 E (Exact mapping: the two concepts are equivalent) A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. Orphanet ICD-10:Q44.6 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480520 Caroli syndrome ORPHA:480520 ICD-10:Q44.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Idiopathic peliosis hepatitis A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure. Orphanet ICD-10:K76.4 UMLS:C5680101 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480524 Idiopathic peliosis hepatis ORPHA:480524 ICD-10:K76.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680101 E (Exact mapping: the two concepts are equivalent) Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. Orphanet ICD-10:Q87.8 UMLS:C5567527 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480528 Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567527 E (Exact mapping: the two concepts are equivalent) Congenital portosystemic venous fistula Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours. Orphanet ICD-10:Q26.5 ICD-11:DB98.Y UMLS:C1290495 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480531 Congenital portosystemic shunt ORPHA:480531 ICD-10:Q26.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB98.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1290495 E (Exact mapping: the two concepts are equivalent) MSH3-related AFAP MSH3-related attenuated FAP MSH3-related attenuated familial polyposis coli ICD-10:D12.6 ICD-11:2B90.Y OMIM:617100 UMLS:C4310719 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480536 MSH3-related attenuated familial adenomatous polyposis Clinical subtype ORPHA:480536 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617100 E (Exact mapping: the two concepts are equivalent) UMLS:C4310719 E (Exact mapping: the two concepts are equivalent) A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to <i>de novo</i> cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system. Orphanet ICD-10:C85.7 UMLS:C5681249 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement ORPHA:480541 ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681249 E (Exact mapping: the two concepts are equivalent) Non-SCID UMLS:C5680098 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480549 Non-severe combined immunodeficiency Category ORPHA:480549 UMLS:C5680098 E (Exact mapping: the two concepts are equivalent) A rare bone tumor characterized by a benign, cystic lesion consisting of blood-filled cavities divided by fibrous septa containing fibroblasts, multinucleated osteoclast-type giant cells, and reactive woven bone. The tumor may arise <i>de novo</i> or secondarily, complicating other benign or malignant bone tumors. It most commonly arises during the first two decades of life and often affects the epiphyses of long bones and posterior elements of vertebral bodies. Patients typically present with pain and swelling, or neurological symptoms due to compression of nerve roots or the spinal cord by vertebral tumors. Orphanet ICD-10:M85.5 ICD-11:FB80.6 ICD-11:XH23E0 MeSH:D017824 MedDRA:10002362 UMLS:C0152244 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480553 Aneurysmal bone cyst ORPHA:480553 ICD-10:M85.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB80.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH23E0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017824 E (Exact mapping: the two concepts are equivalent) MedDRA:10002362 E (Exact mapping: the two concepts are equivalent) UMLS:C0152244 E (Exact mapping: the two concepts are equivalent) Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. Orphanet ICD-10:K83.0 OMIM:617394 UMLS:C5681248 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480556 Isolated neonatal sclerosing cholangitis ORPHA:480556 ICD-10:K83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617394 E (Exact mapping: the two concepts are equivalent) UMLS:C5681248 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2Z LGMD type 2Z LGMD2Z Limb-girdle muscular dystrophy type 2Z POGLUT1-related LGMD R21 A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies. Orphanet ICD-10:G71.0 OMIM:617232 UMLS:C4310660 Autosomal recessive Adult Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480682 POGLUT1-related limb-girdle muscular dystrophy R21 ORPHA:480682 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617232 E (Exact mapping: the two concepts are equivalent) UMLS:C4310660 E (Exact mapping: the two concepts are equivalent) Facial diplegia with paresthesias variant of GBS Facial diplegia with paresthesias variant of Guillain-Barré syndrome A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described. Orphanet ICD-10:G61.0 UMLS:C5567526 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480701 Facial diplegia with paresthesias ORPHA:480701 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567526 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using FATCO syndrome OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome ORPHA:480773 A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. Orphanet ICD-10:D69.4 OMIM:616937 UMLS:C4310789 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480851 Hereditary thrombocytopenia with early-onset myelofibrosis ORPHA:480851 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616937 E (Exact mapping: the two concepts are equivalent) UMLS:C4310789 E (Exact mapping: the two concepts are equivalent) TANGO2-related metabolic encephalopathy-arrhythmia syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. Orphanet ICD-10:G31.8 OMIM:616878 UMLS:C5567524 Infancy Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616878 E (Exact mapping: the two concepts are equivalent) UMLS:C5567524 E (Exact mapping: the two concepts are equivalent) X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others. Orphanet ICD-10:Q87.8 OMIM:300968 UMLS:C5567523 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300968 E (Exact mapping: the two concepts are equivalent) UMLS:C5567523 E (Exact mapping: the two concepts are equivalent) Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). Orphanet ICD-10:Q87.8 OMIM:616875 UMLS:C5567522 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616875 E (Exact mapping: the two concepts are equivalent) UMLS:C5567522 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described. Orphanet ICD-10:Q87.0 ICD-11:LD90 OMIM:300966 UMLS:C4225418 X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome ORPHA:480907 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300966 E (Exact mapping: the two concepts are equivalent) UMLS:C4225418 E (Exact mapping: the two concepts are equivalent) SBMA SMAX1 X-linked BSMA X-linked bulbospinal amyotrophy X-linked bulbospinal muscular atrophy X-linked spinal and bulbar muscular atrophy Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. Orphanet ICD-10:G12.2 ICD-11:8B61.4 MedDRA:10068600 OMIM:313200 UMLS:C1839259 X-linked recessive Adult Europe AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 7.6 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481 Kennedy disease ORPHA:481 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10068600 E (Exact mapping: the two concepts are equivalent) OMIM:313200 E (Exact mapping: the two concepts are equivalent) UMLS:C1839259 E (Exact mapping: the two concepts are equivalent) A rare inflammatory neutrophilic dermatosis characterized by painful cutaneous ulcerations with a violaceous and undermined border affecting the lower extremities; however, any hair-bearing area can be affected. Orphanet ICD-10:L88 ICD-11:EB21 MeSH:D017511 MedDRA:10037635 UMLS:C0085652 Unknown Adolescent Adult Childhood Elderly Italy AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.91 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48104 Pyoderma gangrenosum ORPHA:48104 ICD-10:L88 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017511 E (Exact mapping: the two concepts are equivalent) MedDRA:10037635 E (Exact mapping: the two concepts are equivalent) UMLS:C0085652 E (Exact mapping: the two concepts are equivalent) PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. Orphanet ICD-10:Q87.8 OMIM:616420 UMLS:C4225332 Infancy Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481152 PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616420 E (Exact mapping: the two concepts are equivalent) UMLS:C4225332 E (Exact mapping: the two concepts are equivalent) OBSOLETE: GNET type 1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 1 ORPHA:481469 OBSOLETE: GNET type 2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 2 ORPHA:481475 OBSOLETE: GNET type 3 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 3 ORPHA:481478 OBSOLETE: GNET type 4 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 4 ORPHA:481481 UMLS:C5681253 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481508 Gastroenteric neuroendocrine neoplasm Category ORPHA:481508 UMLS:C5681253 E (Exact mapping: the two concepts are equivalent) MADSAM Multifocal acquired demyelinating sensory and motor neuropathy A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. Orphanet ICD-10:G61.8 ICD-11:8C01.3 MedDRA:10065580 UMLS:C1695985 Not applicable All ages Europe AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48162 Lewis-Sumner syndrome Clinical subtype ORPHA:48162 ICD-10:G61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065580 E (Exact mapping: the two concepts are equivalent) UMLS:C1695985 E (Exact mapping: the two concepts are equivalent) A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. Orphanet ICD-10:L93.2 OMIM:610448 OMIM:614415 UMLS:C5681252 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481662 Familial Chilblain lupus ORPHA:481662 ICD-10:L93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610448 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614415 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681252 E (Exact mapping: the two concepts are equivalent) A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. Orphanet ICD-10:Q04.8 OMIM:617397 UMLS:C4479376 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481665 USP18 deficiency ORPHA:481665 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617397 E (Exact mapping: the two concepts are equivalent) UMLS:C4479376 E (Exact mapping: the two concepts are equivalent) UMLS:C5681250 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481671 Type 1 interferonopathy of childhood Category ORPHA:481671 UMLS:C5681250 E (Exact mapping: the two concepts are equivalent) UMLS:C5681251 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481771 Genetic alopecia Category ORPHA:481771 UMLS:C5681251 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.6 ICD-11:LA05.61 MeSH:C538514 OMIM:269160 UMLS:C2931870 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=481986 Familial schizencephaly Etiological subtype ORPHA:481986 ICD-10:Q04.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538514 E (Exact mapping: the two concepts are equivalent) OMIM:269160 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2931870 E (Exact mapping: the two concepts are equivalent) Eosinophilic lymphogranuloma A rare systemic disease characterized by chronic inflammation of unknown etiology and occurring predominantly in males in the second to third decades of life, mainly in Southeast Asian countries. Patients present with painless soft tissue swelling most commonly involving the head and neck region, usually with salivary gland involvement (parotid and submandibular glands) and regional lymphadenopathy. Frequent laboratory findings are peripheral eosinophilia and raised serum IgE. The diagnosis is confirmed histopathologically by the presence of well-formed lymphoid follicles with eosinophilic infiltration and vascular proliferation in the biopsy. Orphanet ICD-10:I89.8 ICD-11:4B2Y MeSH:D000082242 MedDRA:10048640 UMLS:C0033838 Unknown Adult Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=482 Kimura disease ORPHA:482 ICD-10:I89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000082242 E (Exact mapping: the two concepts are equivalent) MedDRA:10048640 E (Exact mapping: the two concepts are equivalent) UMLS:C0033838 E (Exact mapping: the two concepts are equivalent) HTRA1-related cerebral angiopathy UMLS:C5680099 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=482072 HTRA1-related cerebral small vessel disease Clinical group ORPHA:482072 UMLS:C5680099 E (Exact mapping: the two concepts are equivalent) HTRA1-related autosomal dominant cerebral angiopathy A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent. Orphanet ICD-10:I67.8 OMIM:616779 UMLS:C5568568 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=482077 HTRA1-related autosomal dominant cerebral small vessel disease ORPHA:482077 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616779 E (Exact mapping: the two concepts are equivalent) UMLS:C5568568 E (Exact mapping: the two concepts are equivalent) UMLS:C5681247 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=482092 Rare idiopathic macular telangiectasia Category ORPHA:482092 UMLS:C5681247 E (Exact mapping: the two concepts are equivalent) ADSSL1-related distal myopathy A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis. Orphanet ICD-10:G71.0 OMIM:617030 UMLS:C5567521 Adolescent Childhood Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=482601 Adenylosuccinate synthetase-like 1-related distal myopathy ORPHA:482601 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617030 E (Exact mapping: the two concepts are equivalent) UMLS:C5567521 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. Orphanet ICD-10:Q87.5 UMLS:C5567520 Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ORPHA:482606 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567520 E (Exact mapping: the two concepts are equivalent) A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency. Orphanet ICD-10:D68.8 ICD-11:3B15 OMIM:228960 UMLS:C5681236 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=483 Congenital high-molecular-weight kininogen deficiency ORPHA:483 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B15 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:228960 E (Exact mapping: the two concepts are equivalent) UMLS:C5681236 E (Exact mapping: the two concepts are equivalent) Non-cirrhotic nodulation A form of portosinusoidal vascular disease characterized histologically by the absence of cirrhosis and diffuse benign transformation of the hepatic parenchyma into multiple small nodules (typically 1-3 mm). Orphanet ICD-10:K76.8 ICD-11:DB98.2 Not applicable Adult Spain AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48372 Nodular regenerative hyperplasia of the liver Histopathological subtype ORPHA:48372 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB98.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Pustulosis subcornealis Sneddon-Wilkinson disease Subcorneal pustular dermatitis A rare, acquired, chronic neutrophilic dermatosis characterized by sterile superficial pustules, typically involving the flexural sites of the trunk and proximal extremities. Orphanet ICD-10:L13.1 ICD-11:EB2Y MedDRA:10042342 UMLS:C0600336 Not applicable Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48377 Subcorneal pustular dermatosis ORPHA:48377 ICD-10:L13.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10042342 E (Exact mapping: the two concepts are equivalent) UMLS:C0600336 E (Exact mapping: the two concepts are equivalent) 3p21.31 MGC35097 ClinVar:KLHDC8B Ensembl:ENSG00000185909 Genatlas:KLHDC8B HGNC:28557 OMIM:613169 SwissProt:Q8IXV7 KLHDC8B kelch domain containing 8B 14q23.1 TRM5 tRNA (guanine(37)-N1)-methyltransferase ClinVar:TRMT5 Ensembl:ENSG00000126814 Genatlas:TRMT5 HGNC:23141 OMIM:611023 Reactome:Q32P41 SwissProt:Q32P41 TRMT5 tRNA methyltransferase 5 NON RARE IN EUROPE: 47,XXY syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:Q98.0 NON RARE IN EUROPE: Klinefelter syndrome ORPHA:484 ICD-10:Q98.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 22q12.3 MT-TRX ClinVar:TXN2 Ensembl:ENSG00000100348 Genatlas:TXN2 HGNC:17772 OMIM:609063 Reactome:Q99757 SwissProt:Q99757 TXN2 thioredoxin 2 17p13.2 TBC1D3 and USP32 fusion TRE17 Tre-2 Tre-2 oncogene Tre2 ubiquitin carboxyl-terminal hydrolase 6 ClinVar:USP6 Ensembl:ENSG00000129204 Genatlas:USP6 HGNC:12629 OMIM:604334 SwissProt:P35125 USP6 ubiquitin specific peptidase 6 20q11.23 ASV c-src ClinVar:SRC Ensembl:ENSG00000197122 Genatlas:SRC HGNC:11283 IUPHAR:2206 OMIM:190090 Reactome:P12931 SwissProt:P12931 SRC SRC proto-oncogene, non-receptor tyrosine kinase 3q12.3 FLJ20432 MRPP1 mitochondrial RNase P subunit 1 ClinVar:TRMT10C Ensembl:ENSG00000174173 Genatlas:TRMT10C HGNC:26022 OMIM:615423 Reactome:Q7L0Y3 SwissProt:Q7L0Y3 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit 22q11.21 Ubl carboxyl-terminal hydrolase 18 ClinVar:USP18 Ensembl:ENSG00000184979 Genatlas:USP18 HGNC:12616 OMIM:607057 Reactome:Q9UMW8 SwissProt:Q9UMW8 USP18 ubiquitin specific peptidase 18 1q23.3 CD32C Fc gamma receptor IIc Fc-gamma-RIIc FcgammaRIIc hFcRII-C ClinVar:FCGR2C Ensembl:ENSG00000244682 Genatlas:FCGR2C HGNC:15626 OMIM:612169 SwissProt:P31995 FCGR2C Fc gamma receptor IIc (gene/pseudogene) 8p21.3 CD262 DR5 KILLER TRAIL-R2 TRAILR2 TRICK2A TRICKB ClinVar:TNFRSF10B Ensembl:ENSG00000120889 Genatlas:TNFRSF10B HGNC:11905 IUPHAR:1880 OMIM:603612 Reactome:O14763 SwissProt:O14763 TNFRSF10B TNF receptor superfamily member 10b 3p25.3 8-hydroxyguanine DNA glycosylase HMMH HOGG1 MUTM OGG1 type 1d OGG1 type 1e OGG1 type 1g OGG1 type 1h OGH1 ClinVar:OGG1 Ensembl:ENSG00000114026 Genatlas:OGG1 HGNC:8125 IUPHAR:3060 OMIM:601982 Reactome:R-HSA-60887 SwissProt:O15527 OGG1 8-oxoguanine DNA glycosylase 3q21.1 FLJ14784 RCC4 disrupted in renal cancer protein 2 renal cell carcinoma 4 ClinVar:DIRC2 Ensembl:ENSG00000138463 Genatlas:DIRC2 HGNC:16628 IUPHAR:1913 OMIM:602773 SwissProt:Q96SL1 SLC49A4 solute carrier family 49 member 4 16p13.3 FBX1 FBXO1 ClinVar:CCNF Ensembl:ENSG00000162063 Genatlas:CCNF HGNC:1591 OMIM:600227 Reactome:P41002 SwissProt:P41002 CCNF cyclin F 2q31.1 MLK7 MLTK MLTKalpha MLTKbeta MRK ZAK ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium) mixed lineage kinase 7 Ensembl:ENSG00000091436 HGNC:17797 IUPHAR:2289 OMIM:609479 Reactome:Q9NYL2 SwissProt:Q9NYL2 MAP3K20 mitogen-activated protein kinase kinase kinase 20 CCFDN A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities of the eye; mildly dysmorphic facial features; and a hypo/demyelinating, symmetric, distal peripheral neuropathy. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C565822 OMIM:604168 UMLS:C1858726 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 170.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565822 E (Exact mapping: the two concepts are equivalent) OMIM:604168 E (Exact mapping: the two concepts are equivalent) UMLS:C1858726 E (Exact mapping: the two concepts are equivalent) 10q23.2 MIPP ClinVar:MINPP1 Ensembl:ENSG00000107789 Genatlas:MINPP1 HGNC:7102 OMIM:605391 Reactome:Q9UNW1 SwissProt:Q9UNW1 MINPP1 multiple inositol-polyphosphate phosphatase 1 Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses. Orphanet ICD-10:I77.6 UMLS:C4510302 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48435 Postinfectious vasculitis ORPHA:48435 ICD-10:I77.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510302 E (Exact mapping: the two concepts are equivalent) 8p22 PRLTS ClinVar:PDGFRL Ensembl:ENSG00000104213 Genatlas:PDGFRL HGNC:8805 OMIM:604584 SwissProt:Q15198 PDGFRL platelet derived growth factor receptor like Xq25 TEN-M1 TEN1 ClinVar:TENM1 Ensembl:ENSG00000009694 Genatlas:TENM1 HGNC:8117 OMIM:300588 SwissProt:Q9UKZ4 TENM1 teneurin transmembrane protein 1 1p34.1 GLYT1 GlyT-1 Sodium- and chloride-dependent glycine transporter 1 ClinVar:SLC6A9 Ensembl:ENSG00000196517 Genatlas:SLC6A9 HGNC:11056 IUPHAR:935 OMIM:601019 Reactome:P48067 SwissProt:P48067 SLC6A9 solute carrier family 6 member 9 1q22 HCCA2 YAP YY1AP ClinVar:YY1AP1 Ensembl:ENSG00000163374 Genatlas:YY1AP1 HGNC:30935 OMIM:607860 Reactome:Q9H869 SwissProt:Q9H869 YY1AP1 YY1 associated protein 1 19q13.33 testicular acid phosphatase ClinVar:ACPT Ensembl:ENSG00000142513 Genatlas:ACPT HGNC:14376 OMIM:606362 SwissProt:Q9BZG2 ACP4 acid phosphatase 4 The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. Orphanet MeSH:D054082 MedDRA:10048911 UMLS:C0266463 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48471 Lissencephaly Category ORPHA:48471 MeSH:D054082 E (Exact mapping: the two concepts are equivalent) MedDRA:10048911 E (Exact mapping: the two concepts are equivalent) UMLS:C0266463 E (Exact mapping: the two concepts are equivalent) 19p13.3 DP1L1 FLJ25383 TB1 Yip2f deleted in polyposis 1-like 1 polyposis locus protein 1-like 1 ClinVar:REEP6 Ensembl:ENSG00000115255 Genatlas:REEP6 HGNC:30078 OMIM:609346 Reactome:R-HSA-8939719 SwissProt:Q96HR9 REEP6 receptor accessory protein 6 A rare type&nbsp;2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones. It was first described in 1952 by Dr&nbsp;Wilhelm Kniest, a German pediatrician. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C537207 MedDRA:10081685 OMIM:156550 UMLS:C0265279 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485 Kniest dysplasia ORPHA:485 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537207 E (Exact mapping: the two concepts are equivalent) MedDRA:10081685 E (Exact mapping: the two concepts are equivalent) OMIM:156550 E (Exact mapping: the two concepts are equivalent) UMLS:C0265279 E (Exact mapping: the two concepts are equivalent) 19p13.2 INrf2 KIAA0132 KLHL19 MGC10630 MGC1114 MGC20887 MGC4407 MGC9454 kelch-like family member 19 ClinVar:KEAP1 Ensembl:ENSG00000079999 Genatlas:KEAP1 HGNC:23177 IUPHAR:2757 OMIM:606016 Reactome:R-HSA-976038 SwissProt:Q14145 KEAP1 kelch like ECH associated protein 1 7p21.3 FLJ11273 MGC33727 ClinVar:TMEM106B Ensembl:ENSG00000106460 Genatlas:TMEM106B HGNC:22407 OMIM:613413 SwissProt:Q9NUM4 TMEM106B transmembrane protein 106B ICD-10:Q04.6 ICD-11:LA05.61 OMIM:269160 UMLS:C5681246 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485275 Acquired schizencephaly Etiological subtype ORPHA:485275 ICD-10:Q04.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:269160 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681246 E (Exact mapping: the two concepts are equivalent) Raynaud-Claes syndrome A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. Orphanet ICD-10:F78.1 ICD-11:LD90 OMIM:300114 UMLS:C0796221 Childhood Infancy Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485350 CLCN4-related X-linked intellectual disability syndrome ORPHA:485350 ICD-10:F78.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300114 E (Exact mapping: the two concepts are equivalent) UMLS:C0796221 E (Exact mapping: the two concepts are equivalent) PTU embryofetopathy PTU embryopathy Propylthiouracil embryopathy Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects). Orphanet ICD-10:Q06.8 UMLS:C5567519 Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485358 Propylthiouracil embryofetopathy ORPHA:485358 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567519 E (Exact mapping: the two concepts are equivalent) UMLS:C5681245 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485382 Rare genetic premature ovarian failure Category ORPHA:485382 UMLS:C5681245 E (Exact mapping: the two concepts are equivalent) Tetrasomy 16p12.1p12.3 Trip(16)(p12.1p12.3) 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. Orphanet ICD-10:Q93.7 UMLS:C5680097 Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485405 16p12.1p12.3 triplication syndrome ORPHA:485405 ICD-10:Q93.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680097 E (Exact mapping: the two concepts are equivalent) A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures. Orphanet ICD-10:G60.8 UMLS:C5681244 Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485418 EMILIN-1-related connective tissue disease ORPHA:485418 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681244 E (Exact mapping: the two concepts are equivalent) Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome ICD-10:E88.8 ICD-11:5C5Y OMIM:617086 UMLS:C4310726 Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype ORPHA:485421 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617086 E (Exact mapping: the two concepts are equivalent) UMLS:C4310726 E (Exact mapping: the two concepts are equivalent) Isolated CHF A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved. Orphanet ICD-10:Q44.6 MeSH:C562378 UMLS:C5680096 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485426 Isolated congenital hepatic fibrosis ORPHA:485426 ICD-10:Q44.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562378 E (Exact mapping: the two concepts are equivalent) UMLS:C5680096 E (Exact mapping: the two concepts are equivalent) 8p11.23 Ensembl:ENSG00000147471 HGNC:9457 OMIM:604436 SwissProt:O94903 PLPBP pyridoxal phosphate binding protein 15q25.2 NAPTB ClinVar:AP3B2 Ensembl:ENSG00000103723 Genatlas:AP3B2 HGNC:567 OMIM:602166 SwissProt:Q13367 AP3B2 adaptor related protein complex 3 subunit beta 2 6q21 FLJ25791 FLJ42177 MGC26954 dJ70A9.1 Ensembl:ENSG00000155085 HGNC:33814 OMIM:615358 Reactome:R-HSA-6788784 SwissProt:Q5TCS8 AK9 adenylate kinase 9 1p34.1 TOE-1 hCaf1z ClinVar:TOE1 Ensembl:ENSG00000132773 Genatlas:TOE1 HGNC:15954 OMIM:613931 Reactome:Q96GM8 SwissProt:Q96GM8 TOE1 target of EGR1, exonuclease 15q15.1 KIAA0596 NPHP20 ClinVar:MAPKBP1 Ensembl:ENSG00000137802 Genatlas:MAPKBP1 HGNC:29536 OMIM:616786 Reactome:O60336 SwissProt:O60336 MAPKBP1 mitogen-activated protein kinase binding protein 1 22q11.21 ATP6E2 P31 V-ATPase subunit E1 Vma4 ClinVar:ATP6V1E1 Ensembl:ENSG00000131100 Genatlas:ATP6V1E1 HGNC:857 IUPHAR:816 OMIM:108746 Reactome:R-HSA-912606 SwissProt:P36543 ATP6V1E1 ATPase H+ transporting V1 subunit E1 3q13.31 V-ATPase subunit A V-type proton ATPase (V-ATPase) catalytic subunit A VA68 Vma1 ClinVar:ATP6V1A Ensembl:ENSG00000114573 Genatlas:ATP6V1A HGNC:851 IUPHAR:810 OMIM:607027 Reactome:P38606 SwissProt:P38606 ATP6V1A ATPase H+ transporting V1 subunit A 3p25.3 fls485 ssu-2 Ensembl:ENSG00000125046 HGNC:24809 OMIM:617479 SwissProt:Q9Y2M2 SSUH2 ssu-2 homolog 19p13.2 KIAA0521 MGC15913 P114-RhoGEF Rho-specific guanine nucleotide exchange factor p114 p114RhoGEF ClinVar:ARHGEF18 Ensembl:ENSG00000104880 Genatlas:ARHGEF18 HGNC:17090 OMIM:616432 Reactome:R-HSA-195104 SwissProt:Q6ZSZ5 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 BASD UMLS:C5680095 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=485631 Congenital bile acid synthesis defect Clinical group ORPHA:485631 UMLS:C5680095 E (Exact mapping: the two concepts are equivalent) A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. Orphanet ICD-10:D70 ICD-11:4B00.00 OMIM:202700 OMIM:257100 OMIM:613107 OMIM:619813 UMLS:C4749612 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=486 Autosomal dominant severe congenital neutropenia ORPHA:486 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:202700 E (Exact mapping: the two concepts are equivalent) OMIM:257100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613107 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619813 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4749612 E (Exact mapping: the two concepts are equivalent) A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Orphanet ICD-10:Q93.5 ICD-11:LD44.NY MeSH:C536801 MedDRA:10082417 OMIM:606232 UMLS:C1853490 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48652 Phelan-McDermid syndrome ORPHA:48652 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.NY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536801 E (Exact mapping: the two concepts are equivalent) MedDRA:10082417 E (Exact mapping: the two concepts are equivalent) OMIM:606232 E (Exact mapping: the two concepts are equivalent) UMLS:C1853490 E (Exact mapping: the two concepts are equivalent) SMABF A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. Orphanet ICD-10:G12.8 OMIM:616866 OMIM:616867 UMLS:C5567518 Antenatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures ORPHA:486811 ICD-10:G12.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616866 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616867 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5567518 E (Exact mapping: the two concepts are equivalent) Congenital muscular dystrophy, Davignon-Chauveau type A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions. Orphanet ICD-10:G71.0 OMIM:617066 UMLS:C4310736 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome ORPHA:486815 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617066 E (Exact mapping: the two concepts are equivalent) UMLS:C4310736 E (Exact mapping: the two concepts are equivalent) 8q24.12 CL-10 CL-L1 ClinVar:COLEC10 Ensembl:ENSG00000184374 Genatlas:COLEC10 HGNC:2220 OMIM:607620 Reactome:R-HSA-8852492 SwissProt:Q9Y6Z7 COLEC10 collectin subfamily member 10 Body cavity-based lymphoma PEL Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). Orphanet ICD-10:C83.8 ICD-11:2A81.9 MeSH:D054685 MedDRA:10065857 UMLS:C1292753 Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48686 Primary effusion lymphoma ORPHA:48686 ICD-10:C83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A81.9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054685 E (Exact mapping: the two concepts are equivalent) MedDRA:10065857 E (Exact mapping: the two concepts are equivalent) UMLS:C1292753 E (Exact mapping: the two concepts are equivalent) 12p13.32 Fy-3 ClinVar:C12orf4 Ensembl:ENSG00000047621 Genatlas:C12orf4 HGNC:1184 OMIM:616082 SwissProt:Q9NQ89 FERRY3 FERRY endosomal RAB5 effector complex subunit 3 3q27.3 A2HS FETUA HSGA fetuin A ClinVar:AHSG Ensembl:ENSG00000145192 Genatlas:AHSG HGNC:349 OMIM:138680 Reactome:R-HSA-8848910 SwissProt:P02765 AHSG alpha 2-HS glycoprotein 1p36.11 FLJ34633 RP11-344H11.3 Ensembl:ENSG00000175707 HGNC:26624 OMIM:616758 Reactome:Q8NAX2 SwissProt:Q8NAX2 KDF1 keratinocyte differentiation factor 1 UMLS:C5681264 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=486955 Rare pediatric rheumatologic disease Category ORPHA:486955 UMLS:C5681264 E (Exact mapping: the two concepts are equivalent) GALC deficiency Galactocerebrosidase deficiency Galactosylceramidase deficiency Globoid cell leukodystrophy A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood). Orphanet ICD-10:E75.2 ICD-11:8A44.4 MeSH:D007965 MedDRA:10023492 OMIM:245200 OMIM:611722 UMLS:C0023521 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 1.21 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.327 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=487 Krabbe disease ORPHA:487 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8A44.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007965 E (Exact mapping: the two concepts are equivalent) MedDRA:10023492 E (Exact mapping: the two concepts are equivalent) OMIM:245200 E (Exact mapping: the two concepts are equivalent) OMIM:611722 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0023521 E (Exact mapping: the two concepts are equivalent) 19q13.32 C19orf1 D19S1177E PER-EC1 PEREC1 TOM40 ClinVar:TOMM40 Ensembl:ENSG00000130204 Genatlas:TOMM40 HGNC:18001 OMIM:608061 Reactome:O96008 SwissProt:O96008 TOMM40 translocase of outer mitochondrial membrane 40 1p13.3 TAFII18 Transcription initiation factor TFIID subunit 13 ClinVar:TAF13 Ensembl:ENSG00000197780 Genatlas:TAF13 HGNC:11546 OMIM:600774 Reactome:R-HSA-65557 SwissProt:Q15543 TAF13 TATA-box binding protein associated factor 13 17q12 Hit1 ClinVar:ZNHIT3 Ensembl:ENSG00000273611 Genatlas:ZNHIT3 HGNC:12309 OMIM:604500 SwissProt:Q15649 ZNHIT3 zinc finger HIT-type containing 3 5p13.2 DNAJA5 GS3 JJJ1 JJJ1 DnaJ domain protein homolog (S. cerevisiae) ClinVar:DNAJC21 Ensembl:ENSG00000168724 Genatlas:DNAJC21 HGNC:27030 OMIM:617048 SwissProt:Q5F1R6 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 17p13.3 SKIP skeletal muscle and kidney enriched inositol phosphatase ClinVar:INPP5K Ensembl:ENSG00000132376 Genatlas:INPP5K HGNC:33882 IUPHAR:1458 OMIM:607875 Reactome:R-HSA-1806175 SwissProt:Q9BT40 INPP5K inositol polyphosphate-5-phosphatase K 11q14.2 HEED WAIT-1 WD protein associating with integrin cytoplasmic tails 1 ClinVar:EED Ensembl:ENSG00000074266 Genatlas:EED HGNC:3188 IUPHAR:2487 OMIM:605984 Reactome:R-HSA-212278 SwissProt:O75530 EED embryonic ectoderm development 1q42.12 P5CR2 ClinVar:PYCR2 Ensembl:ENSG00000143811 Genatlas:PYCR2 HGNC:30262 OMIM:616406 Reactome:R-HSA-6783954 SwissProt:Q96C36 PYCR2 pyrroline-5-carboxylate reductase 2 Embryonal carcinoma of the CNS ICD-10:C71.9 UMLS:C1333377 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48736 Embryonal carcinoma of the central nervous system Clinical subtype ORPHA:48736 ICD-10:C71.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1333377 E (Exact mapping: the two concepts are equivalent) Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes. Orphanet ICD-10:Q87.8 OMIM:616737 UMLS:C4225222 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=487796 Takenouchi-Kosaki syndrome ORPHA:487796 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616737 E (Exact mapping: the two concepts are equivalent) UMLS:C4225222 E (Exact mapping: the two concepts are equivalent) Childhood-onset collagenous gastritis A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality. Orphanet ICD-10:K29.6 UMLS:C5680109 Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=487809 Pediatric collagenous gastritis ORPHA:487809 ICD-10:K29.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680109 E (Exact mapping: the two concepts are equivalent) CMT2 due to DGAT2 mutation A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor. Orphanet ICD-10:G60.0 UMLS:C5567515 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation ORPHA:487814 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567515 E (Exact mapping: the two concepts are equivalent) Plantar lipomatosis-facial dysmorphism-developmental delay syndrome Plantar lipomatosis-unusual facies-developmental delay syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly. Orphanet ICD-10:Q87.8 MeSH:C566559 OMIM:602342 UMLS:C1865644 Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=487825 Pierpont syndrome ORPHA:487825 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566559 E (Exact mapping: the two concepts are equivalent) OMIM:602342 E (Exact mapping: the two concepts are equivalent) UMLS:C1865644 E (Exact mapping: the two concepts are equivalent) 2p13.2 KIAA0919 ClinVar:EXOC6B Ensembl:ENSG00000144036 Genatlas:EXOC6B HGNC:17085 OMIM:607880 Reactome:Q9Y2D4 SwissProt:Q9Y2D4 EXOC6B exocyst complex component 6B Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. Orphanet ICD-10:Q64.4 ICD-11:LB03.0 MeSH:D014496 MedDRA:10065375 UMLS:C0041915 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488 Urachal cyst ORPHA:488 ICD-10:Q64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB03.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014496 E (Exact mapping: the two concepts are equivalent) MedDRA:10065375 E (Exact mapping: the two concepts are equivalent) UMLS:C0041915 E (Exact mapping: the two concepts are equivalent) SMO deficiency Sterol-C4-methyl oxidase deficiency A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. Orphanet ICD-10:E88.8 OMIM:616834 UMLS:C5567510 Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616834 E (Exact mapping: the two concepts are equivalent) UMLS:C5567510 E (Exact mapping: the two concepts are equivalent) Hereditary ceruloplasmin deficiency A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. Orphanet ICD-10:E83.1 ICD-11:3A00.Y MeSH:C536004 OMIM:604290 UMLS:C0878682 Autosomal recessive Adult Elderly Japan AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.09 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48818 Aceruloplasminemia ORPHA:48818 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536004 E (Exact mapping: the two concepts are equivalent) OMIM:604290 E (Exact mapping: the two concepts are equivalent) UMLS:C0878682 E (Exact mapping: the two concepts are equivalent) A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles. Orphanet ICD-10:N97.8 OMIM:616780 OMIM:617743 OMIM:619009 OMIM:619011 OMIM:619176 OMIM:620154 UMLS:C5567489 Adolescent Adult Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488191 Female infertility due to oocyte meiotic arrest ORPHA:488191 ICD-10:N97.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617743 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619009 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619011 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619176 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620154 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5567489 E (Exact mapping: the two concepts are equivalent) A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. Orphanet ICD-10:Q13.8 OMIM:616722 UMLS:C5567488 Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616722 E (Exact mapping: the two concepts are equivalent) UMLS:C5567488 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: NSCLC This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-small cell lung cancer ORPHA:488201 SFMMP Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described. Orphanet ICD-10:Q74.8 OMIM:616890 UMLS:C5567487 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488232 Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616890 E (Exact mapping: the two concepts are equivalent) UMLS:C5567487 E (Exact mapping: the two concepts are equivalent) AMNR A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petaloid or tear-drop configuration. Patients tend to be young, Caucasian, and female. Orphanet ICD-10:H35.3 ICD-11:9B65.0 MedDRA:10086444 UMLS:C5200735 Adolescent Adult Worldwide AND has_cases/families_value : 101.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488239 Acute macular neuroretinopathy ORPHA:488239 ICD-10:H35.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10086444 E (Exact mapping: the two concepts are equivalent) UMLS:C5200735 E (Exact mapping: the two concepts are equivalent) OFD Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia. Orphanet ICD-10:M85.0 MeSH:C563276 OMIM:607278 UMLS:C4085248 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488265 Osteofibrous dysplasia ORPHA:488265 ICD-10:M85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563276 E (Exact mapping: the two concepts are equivalent) OMIM:607278 E (Exact mapping: the two concepts are equivalent) UMLS:C4085248 E (Exact mapping: the two concepts are equivalent) Dup(14)q(32) Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication Trisomy 14q32 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. Orphanet ICD-10:D47.1 OMIM:616604 UMLS:C4225449 Adult Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488280 14q32 duplication syndrome ORPHA:488280 ICD-10:D47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616604 E (Exact mapping: the two concepts are equivalent) UMLS:C4225449 E (Exact mapping: the two concepts are equivalent) Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation CMT2W A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood. Orphanet ICD-10:G60.0 OMIM:616625 UMLS:C5567486 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W ORPHA:488333 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616625 E (Exact mapping: the two concepts are equivalent) UMLS:C5567486 E (Exact mapping: the two concepts are equivalent) Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. Orphanet ICD-10:Q87.8 MeSH:C567455 OMIM:611929 UMLS:C2677809 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488434 Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567455 E (Exact mapping: the two concepts are equivalent) OMIM:611929 E (Exact mapping: the two concepts are equivalent) UMLS:C2677809 E (Exact mapping: the two concepts are equivalent) SIX2-related FND A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described. Orphanet ICD-10:Q75.8 UMLS:C5567484 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488437 SIX2-related frontonasal dysplasia ORPHA:488437 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567484 E (Exact mapping: the two concepts are equivalent) Amyoplasia congenita A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue. Orphanet ICD-10:Q68.8 ICD-11:LD26.41 UMLS:C0812412 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488586 Congenital amyoplasia ORPHA:488586 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0812412 E (Exact mapping: the two concepts are equivalent) SPG76 Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. Orphanet ICD-10:G11.4 OMIM:616907 UMLS:C5567483 Autosomal recessive Adult Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488594 Autosomal recessive spastic paraplegia type 76 ORPHA:488594 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616907 E (Exact mapping: the two concepts are equivalent) UMLS:C5567483 E (Exact mapping: the two concepts are equivalent) 18q21.33 3-dehydrosphinganine reductase DHSR SDR35C1 short chain dehydrogenase/reductase family 35C, member 1 ClinVar:KDSR Ensembl:ENSG00000119537 Genatlas:KDSR HGNC:4021 IUPHAR:2463 OMIM:136440 Reactome:R-HSA-428134 SwissProt:Q06136 KDSR 3-ketodihydrosphingosine reductase A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others. Orphanet ICD-10:F84.8 OMIM:616973 UMLS:C5567482 Childhood Infancy Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613 ICD-10:F84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616973 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5567482 E (Exact mapping: the two concepts are equivalent) Short stature-developmental delay-congenital heart defect syndrome TKT deficiency A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). Orphanet ICD-10:E88.8 ICD-11:5C51.0 OMIM:617044 UMLS:C1291328 Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488618 Transketolase deficiency ORPHA:488618 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617044 E (Exact mapping: the two concepts are equivalent) UMLS:C1291328 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. Orphanet ICD-10:Q87.8 OMIM:617051 UMLS:C5567481 Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ORPHA:488627 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617051 E (Exact mapping: the two concepts are equivalent) UMLS:C5567481 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (including plagio/brachycephaly, bitemporal narrowing, high-arched eyebrows high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. Orphanet ICD-10:Q87.0 OMIM:616900 UMLS:C5567480 Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488632 TBCK-related intellectual disability syndrome ORPHA:488632 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616900 E (Exact mapping: the two concepts are equivalent) UMLS:C5567480 E (Exact mapping: the two concepts are equivalent) Congenital disorder of glycosylation due to PIGG deficiency PIGG-CDG A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum. Orphanet ICD-10:E77.8 OMIM:616917 UMLS:C5567479 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616917 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5567479 E (Exact mapping: the two concepts are equivalent) You-Hoover-Fong syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others. Orphanet ICD-10:Q87.8 OMIM:616954 UMLS:C4310778 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488642 TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616954 E (Exact mapping: the two concepts are equivalent) UMLS:C4310778 E (Exact mapping: the two concepts are equivalent) A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies. Orphanet ICD-10:C96.7 OMIM:616871 UMLS:C5567478 Multigenic/multifactorial Adult Elderly Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488647 DDX41-related hematologic malignancy predisposition syndrome ORPHA:488647 ICD-10:C96.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616871 E (Exact mapping: the two concepts are equivalent) UMLS:C5567478 E (Exact mapping: the two concepts are equivalent) Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability. Orphanet ICD-10:G71.0 OMIM:614321 UMLS:C3280443 Autosomal dominant Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=488650 Distal myopathy, Tateyama type ORPHA:488650 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614321 E (Exact mapping: the two concepts are equivalent) UMLS:C3280443 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Thyroglossal tract cyst This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Thyroglossal duct cyst ORPHA:489 Focal nodular myositis Inflammatory pseudotumor of skeletal muscle A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities. Orphanet ICD-10:M60.8 ICD-11:4A41.Y MedDRA:10081943 UMLS:C0751357 Not applicable Adult Worldwide AND has_cases/families_value : 115.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48918 Focal myositis ORPHA:48918 ICD-10:M60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081943 E (Exact mapping: the two concepts are equivalent) UMLS:C0751357 E (Exact mapping: the two concepts are equivalent) 1q21.3 KCa2.3 SKCA3 hSK3 small conductance calcium-activated potassium channel 3 ClinVar:KCNN3 Ensembl:ENSG00000143603 Genatlas:KCNN3 HGNC:6292 IUPHAR:383 OMIM:602983 Reactome:Q9UGI6 SwissProt:Q9UGI6 KCNN3 potassium calcium-activated channel subfamily N member 3 15q22.31 YL8 ClinVar:RAB11A Ensembl:ENSG00000103769 Genatlas:RAB11A HGNC:9760 OMIM:605570 Reactome:P62491 SwissProt:P62491 RAB11A RAB11A, member RAS oncogene family 14q24.1 NTCP NTCP1 Na+/taurocholate cotransporting polypeptide ClinVar:SLC10A1 Ensembl:ENSG00000100652 Genatlas:SLC10A1 HGNC:10905 IUPHAR:959 OMIM:182396 Reactome:Q14973 SwissProt:Q14973 SLC10A1 solute carrier family 10 member 1 1q32.1 1D 64kD D1 SM-LMOD SMLMOD ClinVar:LMOD1 Ensembl:ENSG00000163431 Genatlas:LMOD1 HGNC:6647 OMIM:602715 Reactome:P29536 SwissProt:P29536 LMOD1 leiomodin 1 2p11.2 MAT-II MATA2 MATII S-adenosylmethionine synthase isoform type-2 SAMS2 ClinVar:MAT2A Ensembl:ENSG00000168906 Genatlas:MAT2A HGNC:6904 OMIM:601468 Reactome:P31153 SwissProt:P31153 MAT2A methionine adenosyltransferase 2A 3p21.1 Wernicke-Korsakoff syndrome ClinVar:TKT Ensembl:ENSG00000163931 Genatlas:TKT HGNC:11834 OMIM:606781 Reactome:P29401 SwissProt:P29401 TKT transketolase Aphallia Penis agenesis Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated. Orphanet ICD-10:Q55.5 ICD-11:LB50 MeSH:C536649 MedDRA:10087156 UMLS:C4551491 Antenatal Neonatal Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=49 Penile agenesis ORPHA:49 ICD-10:Q55.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536649 E (Exact mapping: the two concepts are equivalent) MedDRA:10087156 E (Exact mapping: the two concepts are equivalent) UMLS:C4551491 E (Exact mapping: the two concepts are equivalent) A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen. Orphanet ICD-10:Q43.0 ICD-11:LB03.Y UMLS:C0266180 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=490 Omphalomesenteric cyst ORPHA:490 ICD-10:Q43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB03.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266180 E (Exact mapping: the two concepts are equivalent) 9q34.2 MYOMAKER TMEM226 transmembrane protein 226 Ensembl:ENSG00000187616 HGNC:33778 OMIM:615345 SwissProt:A6NI61 MYMK myomaker, myoblast fusion factor 1p13.3 SERS serine tRNA ligase 1, cytoplasmic ClinVar:SARS Ensembl:ENSG00000031698 Genatlas:SARS HGNC:10537 OMIM:607529 Reactome:P49591 SwissProt:P49591 SARS1 seryl-tRNA synthetase 1 21q22.13 DCRC DSRC phosphatidylinositol-n-acetylglucosaminyltranferase subunit P ClinVar:PIGP Ensembl:ENSG00000185808 Genatlas:PIGP HGNC:3046 OMIM:605938 Reactome:P57054 SwissProt:P57054 PIGP phosphatidylinositol glycan anchor biosynthesis class P 1p36.33 FLJ39787 ZZZ5 skeletrophin ClinVar:MIB2 Ensembl:ENSG00000197530 Genatlas:MIB2 HGNC:30577 OMIM:611141 Reactome:Q96AX9 SwissProt:Q96AX9 MIB2 MIB E3 ubiquitin protein ligase 2 Idiopathic retroperitoneal fibrosis Ormond disease A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body. Orphanet ICD-10:K66.2 ICD-11:4A43.0 MeSH:D012185 MedDRA:10038979 OMIM:228800 UMLS:C0035357 Not applicable Unknown Adult Europe AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=49041 IgG4-related retroperitoneal fibrosis Clinical subtype ORPHA:49041 ICD-10:K66.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D012185 E (Exact mapping: the two concepts are equivalent) MedDRA:10038979 E (Exact mapping: the two concepts are equivalent) OMIM:228800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0035357 E (Exact mapping: the two concepts are equivalent) 3p21.31 HKLP2 NY-BR-62 ClinVar:KIF15 Ensembl:ENSG00000163808 Genatlas:KIF15 HGNC:17273 OMIM:617569 Reactome:Q9NS87 SwissProt:Q9NS87 KIF15 kinesin family member 15 DGI DGI without OI DI Dentinogenesis imperfecta without osteogenesis imperfecta Non-syndromic DGI Non-syndromic dentinogenesis imperfecta Opalescent teeth without OI Opalescent teeth without osteogenesis imperfecta Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development. Orphanet ICD-10:K00.5 ICD-11:LA30.8 MeSH:D003811 MedDRA:10054013 UMLS:C0011436 Autosomal dominant Childhood Europe AND has_point_prevalence_average_value : 14.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=49042 Dentinogenesis imperfecta ORPHA:49042 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA30.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003811 E (Exact mapping: the two concepts are equivalent) MedDRA:10054013 E (Exact mapping: the two concepts are equivalent) UMLS:C0011436 E (Exact mapping: the two concepts are equivalent) 15q24.2 COX-VA Cytochrome c oxidase subunit 5A, mitochondrial ClinVar:COX5A Ensembl:ENSG00000178741 Genatlas:COX5A HGNC:2267 OMIM:603773 Reactome:P20674 SwissProt:P20674 COX5A cytochrome c oxidase subunit 5A 8q11.21 ClinVar:SPIDR Ensembl:ENSG00000164808 Genatlas:SPIDR HGNC:28971 OMIM:615384 Reactome:Q14159 SwissProt:Q14159 SPIDR scaffold protein involved in DNA repair 20p13 Dashurin UFBP1 dJ1187M17.3 ClinVar:DDRGK1 Ensembl:ENSG00000198171 Genatlas:DDRGK1 HGNC:16110 OMIM:616177 SwissProt:Q96HY6 DDRGK1 DDRGK domain containing 1 1q24.3 GPI2 PIG-C phosphatidylinositol N-acetylglucosaminyltransferase subunit C ClinVar:PIGC Ensembl:ENSG00000135845 Genatlas:PIGC HGNC:8960 OMIM:601730 Reactome:Q92535 SwissProt:Q92535 PIGC phosphatidylinositol glycan anchor biosynthesis class C 1p22.1 PARG1 ClinVar:ARHGAP29 Ensembl:ENSG00000137962 Genatlas:ARHGAP29 HGNC:30207 OMIM:610496 Reactome:Q52LW3 SwissProt:Q52LW3 ARHGAP29 Rho GTPase activating protein 29 20p11.23 CSRP2BP Ensembl:ENSG00000232838 HGNC:40045 OMIM:614771 SwissProt:Q6UWS5 PET117 PET117 cytochrome c oxidase chaperone 10q22.3 annexin XI ClinVar:ANXA11 Ensembl:ENSG00000122359 Genatlas:ANXA11 HGNC:535 OMIM:602572 Reactome:P50995 SwissProt:P50995 ANXA11 annexin A11 1p36.23 H+/sugar symporter ClinVar:SLC45A1 Ensembl:ENSG00000162426 Genatlas:SLC45A1 HGNC:17939 IUPHAR:1209 OMIM:605763 SwissProt:Q9Y2W3 SLC45A1 solute carrier family 45 member 1 10q25.1 FLJ22944 FLJ36006 bA373N18.2 ClinVar:CFAP43 Ensembl:ENSG00000197748 Genatlas:CFAP43 HGNC:26684 OMIM:617558 SwissProt:Q8NDM7 CFAP43 cilia and flagella associated protein 43 3q13.2 FLJ11142 ClinVar:CFAP44 Ensembl:ENSG00000206530 Genatlas:CFAP44 HGNC:25631 OMIM:617559 SwissProt:Q96MT7 CFAP44 cilia and flagella associated protein 44 19q13.33 HSST2 ClinVar:SULT2B1 Ensembl:ENSG00000088002 Genatlas:SULT2B1 HGNC:11459 OMIM:604125 Reactome:O00204 SwissProt:O00204 SULT2B1 sulfotransferase family 2B member 1 8p23.1 ClinVar:CTSB Ensembl:ENSG00000164733 Genatlas:CTSB HGNC:2527 IUPHAR:2343 OMIM:116810 Reactome:P07858 SwissProt:P07858 CTSB cathepsin B 5p15.33 16E1BP thyroid receptor interacting protein 13 ClinVar:TRIP13 Ensembl:ENSG00000071539 Genatlas:TRIP13 HGNC:12307 OMIM:604507 Reactome:Q15645 SwissProt:Q15645 TRIP13 thyroid hormone receptor interactor 13 17q11.2 HERA-B ClinVar:ERAL1 Ensembl:ENSG00000132591 Genatlas:ERAL1 HGNC:3424 OMIM:607435 Reactome:O75616 SwissProt:O75616 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 1p32.2 yotari ClinVar:DAB1 Ensembl:ENSG00000173406 Genatlas:DAB1 HGNC:2661 OMIM:603448 Reactome:O75553 SwissProt:O75553 DAB1 DAB adaptor protein 1 5q14.1 DUP Divergent upstream protein MRP1 Mismatch repair protein 1 ClinVar:MSH3 Ensembl:ENSG00000113318 Genatlas:MSH3 HGNC:7326 OMIM:600887 Reactome:P20585 SwissProt:P20585 MSH3 mutS homolog 3 1p36.21 KIAA0842 Ensembl:ENSG00000116786 HGNC:29131 OMIM:609613 SwissProt:Q8IWE5 PLEKHM2 pleckstrin homology and RUN domain containing M2 8p11.21 ClinVar:PLAT Ensembl:ENSG00000104368 Genatlas:PLAT HGNC:9051 IUPHAR:2392 OMIM:173370 Reactome:P00750 SwissProt:P00750 PLAT plasminogen activator, tissue type 19q13.12 ClinVar:LGI4 Ensembl:ENSG00000153902 Genatlas:LGI4 HGNC:18712 OMIM:608303 Reactome:Q8N135 SwissProt:Q8N135 LGI4 leucine rich repeat LGI family member 4 A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues. Orphanet ICD-10:L72.1 UMLS:C2959585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=492 Proliferating trichilemmal cyst ORPHA:492 ICD-10:L72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2959585 E (Exact mapping: the two concepts are equivalent) 9q21.2 FLJ12643 ClinVar:CEP78 Ensembl:ENSG00000148019 Genatlas:CEP78 HGNC:25740 OMIM:617110 Reactome:Q5JTW2 SwissProt:Q5JTW2 CEP78 centrosomal protein 78 19q13.2 KIAA0306 ClinVar:CIC Ensembl:ENSG00000079432 Genatlas:CIC HGNC:14214 OMIM:612082 Reactome:Q96RK0 SwissProt:Q96RK0 CIC capicua transcriptional repressor 4q13.3 RSTI689 UNQ689 ClinVar:AMTN Ensembl:ENSG00000187689 Genatlas:AMTN HGNC:33188 OMIM:610912 Reactome:Q6UX39 SwissProt:Q6UX39 AMTN amelotin 2q37.1 ARM FLJ12584 KIAA1868 KU-MEL-1 ClinVar:ARMC9 Ensembl:ENSG00000135931 Genatlas:ARMC9 HGNC:20730 OMIM:617612 SwissProt:Q7Z3E5 ARMC9 armadillo repeat containing 9 1p31.3 ClinVar:ROR1 Ensembl:ENSG00000185483 Genatlas:ROR1 HGNC:10256 IUPHAR:1845 OMIM:602336 Reactome:Q01973 SwissProt:Q01973 ROR1 receptor tyrosine kinase like orphan receptor 1 17q25.1 GRAMD6 WBP-2 ClinVar:WBP2 Ensembl:ENSG00000132471 Genatlas:WBP2 HGNC:12738 OMIM:606962 Reactome:Q969T9 SwissProt:Q969T9 WBP2 WW domain binding protein 2 6p21.33 CTL4 DFNA72 FLJ14491 NG22 TPPT ClinVar:SLC44A4 Ensembl:ENSG00000204385 Genatlas:SLC44A4 HGNC:13941 IUPHAR:1207 OMIM:606107 Reactome:Q53GD3 SwissProt:Q53GD3 SLC44A4 solute carrier family 44 member 4 3q22.3 DZIP2 FLJ32844 ClinVar:DZIP1L Ensembl:ENSG00000158163 Genatlas:DZIP1L HGNC:26551 OMIM:617570 Reactome:Q8IYY4 SwissProt:Q8IYY4 DZIP1L DAZ interacting zinc finger protein 1 like 11p15.5 Epidermal growth factor receptor kinase substrate 8-like protein 2 FLJ21935 FLJ22171 MGC3088 ClinVar:EPS8L2 Ensembl:ENSG00000177106 Genatlas:EPS8L2 HGNC:21296 OMIM:614988 SwissProt:Q9H6S3 EPS8L2 EPS8 signaling adaptor L2 13q12.11 D13S1056E MGC26259 Tg737 hTg737 polaris homolog ClinVar:IFT88 Ensembl:ENSG00000032742 Genatlas:IFT88 HGNC:20606 OMIM:600595 SwissProt:Q13099 IFT88 intraflagellar transport 88 13q21.33-q22.1 CEP90 PIBF progesterone-induced blocking factor 1 ClinVar:PIBF1 Ensembl:ENSG00000083535 Genatlas:PIBF1 HGNC:23352 OMIM:607532 SwissProt:Q8WXW3 PIBF1 progesterone immunomodulatory binding factor 1 11q13.1 CANP CANPL1 muCANP muCL ClinVar:CAPN1 Ensembl:ENSG00000014216 Genatlas:CAPN1 HGNC:1476 IUPHAR:2336 OMIM:114220 SwissProt:P07384 CAPN1 calpain 1 Hereditary keratoacanthoma Multiple keratoacanthoma A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Orphanet ICD-10:L85.8 ICD-11:2C31.1 MeSH:C536150 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=493 Familial keratoacanthoma ORPHA:493 ICD-10:L85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536150 E (Exact mapping: the two concepts are equivalent) Vibratory angioedema/urticaria Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings. Orphanet ICD-10:L50.4 ICD-11:EB01.Y MeSH:D000094482 MedDRA:10052571 OMIM:125630 UMLS:C0157743 Autosomal dominant All ages Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=493342 Vibratory urticaria ORPHA:493342 ICD-10:L50.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB01.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000094482 E (Exact mapping: the two concepts are equivalent) MedDRA:10052571 E (Exact mapping: the two concepts are equivalent) OMIM:125630 E (Exact mapping: the two concepts are equivalent) UMLS:C0157743 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Vibratory urticaria OBSOLETE: Vibratory angioedema ORPHA:493348 6p21.33 Ckb1 Ckb2 ClinVar:CSNK2B Ensembl:ENSG00000204435 Genatlas:CSNK2B HGNC:2460 IUPHAR:1551 OMIM:115441 Reactome:P67870 SwissProt:P67870 CSNK2B casein kinase 2 beta 4p16.3 CPX-I ClinVar:CPLX1 Ensembl:ENSG00000168993 Genatlas:CPLX1 HGNC:2309 OMIM:605032 Reactome:O14810 SwissProt:O14810 CPLX1 complexin 1 15q25.2 FAM42A FLJ13119 HsT19294 RIA1 ribosome assembly 1 homolog (yeast) Ensembl:ENSG00000140598 HGNC:25789 OMIM:617538 SwissProt:Q7Z2Z2 EFL1 elongation factor like GTPase 1 2q35 FU KIAA1278 fused homolog (Drosophila) ClinVar:STK36 Ensembl:ENSG00000163482 Genatlas:STK36 HGNC:17209 IUPHAR:2223 OMIM:607652 Reactome:Q9NRP7 SwissProt:Q9NRP7 STK36 serine/threonine kinase 36 17q24.2 KIAA1001 ClinVar:ARSG Ensembl:ENSG00000141337 Genatlas:ARSG HGNC:24102 OMIM:610008 Reactome:Q96EG1 SwissProt:Q96EG1 ARSG arylsulfatase G 19p13.12 CD312 Ensembl:ENSG00000127507 HGNC:3337 IUPHAR:183 OMIM:606100 Reactome:Q9UHX3 SwissProt:Q9UHX3 ADGRE2 adhesion G protein-coupled receptor E2 1q41 SL1 TAFI48 ClinVar:TAF1A Ensembl:ENSG00000143498 Genatlas:TAF1A HGNC:11532 OMIM:604903 Reactome:Q15573 SwissProt:Q15573 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A 7p22.3 KIAA1023 ClinVar:IQCE Ensembl:ENSG00000106012 Genatlas:IQCE HGNC:29171 OMIM:617631 Reactome:Q6IPM2 SwissProt:Q6IPM2 IQCE IQ motif containing E 9q21.12 hsa-mir-204 Ensembl:ENSG00000207935 HGNC:31582 OMIM:610942 MIR204 microRNA 204 19p13.3 SEM-SEMA-Z SEMA-VIB Sema VIb semaZ semaphorin VIB semaphorin Z ClinVar:SEMA6B Ensembl:ENSG00000167680 Genatlas:SEMA6B HGNC:10739 OMIM:608873 SwissProt:Q9H3T3 SEMA6B semaphorin 6B 1p35.3 CGI-63 ETR1 FASN2B NRBF1 mitochondrial 2-enoyl thioester reductase nuclear receptor binding factor 1 ClinVar:MECR Ensembl:ENSG00000116353 Genatlas:MECR HGNC:19691 OMIM:608205 Reactome:Q9BV79 SwissProt:Q9BV79 MECR mitochondrial trans-2-enoyl-CoA reductase 1p32.3 DKFZp727A071 proline tRNA ligase 2, mitochondrial (putative) Ensembl:ENSG00000162396 HGNC:30563 OMIM:612036 Reactome:Q7L3T8 SwissProt:Q7L3T8 PARS2 prolyl-tRNA synthetase 2, mitochondrial 6q21 DKFZP564C1278 FLJ10989 FLJ12189 FLJ13447 GATA GatA glutamyl-tRNA(Gln) amidotransferase, subunit A ClinVar:QRSL1 Ensembl:ENSG00000130348 Genatlas:QRSL1 HGNC:21020 OMIM:617209 SwissProt:Q9H0R6 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 19q13.2 TIM50 TIM50L ClinVar:TIMM50 Ensembl:ENSG00000105197 Genatlas:TIMM50 HGNC:23656 OMIM:607381 Reactome:Q3ZCQ8 SwissProt:Q3ZCQ8 TIMM50 translocase of inner mitochondrial membrane 50 ACHM Complete or incomplete color blindness Pingelapese blindness Rod monochromacy Rod monochromatism Total color blindness A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. Orphanet ICD-10:H53.5 ICD-11:9B70 MedDRA:10000454 OMIM:216900 OMIM:262300 OMIM:610024 OMIM:613093 OMIM:613856 OMIM:616517 UMLS:C0152200 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=49382 Achromatopsia ORPHA:49382 ICD-10:H53.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10000454 E (Exact mapping: the two concepts are equivalent) OMIM:216900 E (Exact mapping: the two concepts are equivalent) OMIM:262300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610024 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613093 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613856 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616517 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0152200 E (Exact mapping: the two concepts are equivalent) 5p13.1 ADAP FYB-120/130 SLAP-130 adhesion and degranulation promoting adaptor protein Ensembl:ENSG00000082074 HGNC:4036 OMIM:602731 Reactome:O15117 SwissProt:O15117 FYB1 FYN binding protein 1 3p21.31 RHOH12 Rho12 RhoA ClinVar:RHOA Ensembl:ENSG00000067560 Genatlas:RHOA HGNC:667 OMIM:165390 Reactome:P61586 SwissProt:P61586 RHOA ras homolog family member A Mutilating keratoderma of Vohwinkel Mutilating keratoderma plus deafness Mutilating keratoderma plus hearing loss PPK mutilans and deafness PPK mutilans and hearing loss Vohwinkel syndrome Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. Orphanet ICD-10:Q82.8 MeSH:C536457 OMIM:124500 UMLS:C0265964 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494 Keratoderma hereditarium mutilans ORPHA:494 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536457 E (Exact mapping: the two concepts are equivalent) OMIM:124500 E (Exact mapping: the two concepts are equivalent) UMLS:C0265964 E (Exact mapping: the two concepts are equivalent) 10q22.1 SPL ClinVar:SGPL1 Ensembl:ENSG00000166224 Genatlas:SGPL1 HGNC:10817 IUPHAR:2522 OMIM:603729 Reactome:O95470 SwissProt:O95470 SGPL1 sphingosine-1-phosphate lyase 1 1q22 ASH1 ASH1L1 KMT2H huASH1 ClinVar:ASH1L Ensembl:ENSG00000116539 Genatlas:ASH1L HGNC:19088 IUPHAR:2648 OMIM:607999 Reactome:Q9NR48 SwissProt:Q9NR48 ASH1L ASH1 like histone lysine methyltransferase 7q36.1 HALR Histone-lysine N-methyltransferase 2C KIAA1506 ClinVar:KMT2C Ensembl:ENSG00000055609 Genatlas:KMT2C HGNC:13726 IUPHAR:2690 OMIM:606833 Reactome:Q8NEZ4 SwissProt:Q8NEZ4 KMT2C lysine methyltransferase 2C 4q21.23 ALFY KIAA0993 ZFYVE25 ClinVar:WDFY3 Ensembl:ENSG00000163625 Genatlas:WDFY3 HGNC:20751 OMIM:617485 Reactome:Q8IZQ1 SwissProt:Q8IZQ1 WDFY3 WD repeat and FYVE domain containing 3 3q22.2 FLJ33207 ClinVar:KY Ensembl:ENSG00000174611 Genatlas:KY HGNC:26576 OMIM:605739 SwissProt:Q8NBH2 KY kyphoscoliosis peptidase 2q31.2 CAMDI FLJ39502 coiled-coil protein associated with myosin II and DISC1 ClinVar:CCDC141 Ensembl:ENSG00000163492 Genatlas:CCDC141 HGNC:26821 OMIM:616031 SwissProt:Q6ZP82 CCDC141 coiled-coil domain containing 141 9q33.3 60S ribosomal protein L35 L35 uL29 ClinVar:RPL35 Ensembl:ENSG00000136942 Genatlas:RPL35 HGNC:10344 OMIM:618315 Reactome:P42766 SwissProt:P42766 RPL35 ribosomal protein L35 19q13.33 60S ribosomal protein L18 L18 eL18 ClinVar:RPL18 Ensembl:ENSG00000063177 Genatlas:RPL18 HGNC:10310 OMIM:604179 Reactome:Q07020 SwissProt:Q07020 RPL18 ribosomal protein L18 16p12.3-p12.2 ZPA zona pellucida 2 ClinVar:ZP2 Ensembl:ENSG00000103310 Genatlas:ZP2 HGNC:13188 OMIM:182888 Reactome:Q05996 SwissProt:Q05996 ZP2 zona pellucida glycoprotein 2 7q11.23 ZP3-372 ZP3-424 ZPC ClinVar:ZP3 Ensembl:ENSG00000188372 Genatlas:ZP3 HGNC:13189 OMIM:182889 Reactome:P21754 SwissProt:P21754 ZP3 zona pellucida glycoprotein 3 13q12.3 VEGFR1 vascular endothelial growth factor receptor 1 vascular permeability factor receptor ClinVar:FLT1 Ensembl:ENSG00000102755 Genatlas:FLT1 HGNC:3763 IUPHAR:1812 OMIM:165070 Reactome:P17948 SwissProt:P17948 FLT1 fms related receptor tyrosine kinase 1 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis. Orphanet ICD-10:Q87.8 OMIM:616975 UMLS:C5567477 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494344 RERE-related neurodevelopmental syndrome ORPHA:494344 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616975 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5567477 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Portosinusoidal vascular disease OMIM:617068 Early-onset familial noncirrhotic portal hypertension ORPHA:494348 OMIM:617068 E (Exact mapping: the two concepts are equivalent) Carcinoma of vulva A group of rare tumors of the vulva comprising HPV-associated and HPV-independent squamous cell carcinomas as the most frequent malignant vulvar tumors, basal cell carcinomas, adenocarcinomas, and Bartholin gland carcinomas. Depending on the type of tumor and disease stage, patients may present with a painless vulvar mass or ulcer, or with pruritus, a burning sensation, pain, or bleeding. Orphanet ICD-10:C51.8 ICD-11:2C70 UMLS:C0677055 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494418 Vulvar carcinoma ORPHA:494418 ICD-10:C51.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0677055 E (Exact mapping: the two concepts are equivalent) ICD-10:C41.4 UMLS:C0559459 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494421 Sacrococcygeal teratoma Clinical subtype ORPHA:494421 ICD-10:C41.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0559459 E (Exact mapping: the two concepts are equivalent) ECAA ECCA A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression. Orphanet ICD-10:I72.0 ICD-11:BD51.0 UMLS:C0340639 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494424 Extracranial carotid artery aneurysm ORPHA:494424 ICD-10:I72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0340639 E (Exact mapping: the two concepts are equivalent) IPPFE Idiopathic pleuropulmonary fibroelastosis A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion, and loss of volume), and reticulation. Orphanet ICD-10:J84.1 UMLS:C5567467 Adolescent Adult Elderly Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494428 Idiopathic pleuroparenchymal fibroelastosis ORPHA:494428 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567467 E (Exact mapping: the two concepts are equivalent) Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. Orphanet ICD-10:D46.7 OMIM:617053 UMLS:C4284088 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494433 MIRAGE syndrome ORPHA:494433 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617053 E (Exact mapping: the two concepts are equivalent) UMLS:C4284088 E (Exact mapping: the two concepts are equivalent) Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination. Orphanet ICD-10:Q87.8 OMIM:617763 UMLS:C5567466 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617763 E (Exact mapping: the two concepts are equivalent) UMLS:C5567466 E (Exact mapping: the two concepts are equivalent) DIAPH1-related sensorineural deafness-thrombocytopenia syndrome A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. Orphanet ICD-10:H90.3 MeSH:C565121 OMIM:124900 UMLS:C1852282 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome ORPHA:494444 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565121 E (Exact mapping: the two concepts are equivalent) OMIM:124900 E (Exact mapping: the two concepts are equivalent) UMLS:C1852282 E (Exact mapping: the two concepts are equivalent) Squamous cell carcinoma of the vulva A rare vulvar carcinoma characterized by an ulcer, nodule, macule, or pedunculated mass which is histologically composed of infiltrating islands of malignant squamous cells. Histological subtypes include keratinizing, non-keratinizing, basaloid, warty, and verrucous carcinomas. Some tumors are associated with human papilloma virus, smoking, high grade squamous intraepithelial lesion, chronic vulvar inflammatory disorders, or differentiated vulvar intraepithelial neoplasia. Patients may present with discharge, bleeding, or pain. Most important prognostic features are tumor depth and lymph node status. Orphanet ICD-10:C51.8 ICD-11:2C70.2 MedDRA:10041875 UMLS:C0280856 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494448 Vulvar squamous cell carcinoma Histopathological subtype ORPHA:494448 ICD-10:C51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C70.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10041875 E (Exact mapping: the two concepts are equivalent) UMLS:C0280856 E (Exact mapping: the two concepts are equivalent) Basal cell carcinoma of vulva A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usually treated by local excision, although groin metastases have been reported. Orphanet ICD-10:C51.8 ICD-11:2C70.0 MedDRA:10082639 UMLS:C1336977 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494451 Vulvar basal cell carcinoma Histopathological subtype ORPHA:494451 ICD-10:C51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10082639 E (Exact mapping: the two concepts are equivalent) UMLS:C1336977 E (Exact mapping: the two concepts are equivalent) Adenocarcinoma of the vulva A rare vulvar carcinoma characterized by a malignant epithelial neoplasm of glandular origin and/or with glandular characteristics arising in the vulva, including adenocarcinoma of mammary gland type, sweat gland type, and intestinal type, as well as adenocarcinomas of the Bartholin glands and Paget disease of the vulva. Depending on the type of tumor and disease stage, patients may present with a solitary vulvar mass, bleeding, or (in the case of Paget disease) a pruritic, erythematous, eczematous lesion. Orphanet ICD-10:C51.8 MedDRA:10063536 UMLS:C1336975 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494454 Vulvar adenocarcinoma Histopathological subtype ORPHA:494454 ICD-10:C51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10063536 E (Exact mapping: the two concepts are equivalent) UMLS:C1336975 E (Exact mapping: the two concepts are equivalent) UMLS:C5681221 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494457 Rare hyperkinetic movement disorder Category ORPHA:494457 UMLS:C5681221 E (Exact mapping: the two concepts are equivalent) Infantile-onset orofacial-trunk-limbs dyskinesia A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved. Orphanet ICD-10:G24.8 OMIM:616921 UMLS:C5567464 Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494526 Infantile-onset generalized dyskinesia with orofacial involvement ORPHA:494526 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616921 E (Exact mapping: the two concepts are equivalent) UMLS:C5567464 E (Exact mapping: the two concepts are equivalent) A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported. Orphanet ICD-10:G25.5 OMIM:616922 UMLS:C5567463 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494541 Childhood-onset benign chorea with striatal involvement ORPHA:494541 ICD-10:G25.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616922 E (Exact mapping: the two concepts are equivalent) UMLS:C5567463 E (Exact mapping: the two concepts are equivalent) A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms. Orphanet ICD-10:C12 ICD-10:C13.0 ICD-10:C13.2 ICD-10:C13.8 ICD-11:2B6D.0 MedDRA:10041849 OMIM:275355 UMLS:C0280321 Adult Elderly Europe AND has_annual_incidence_average_value : 1.27 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494547 Squamous cell carcinoma of the hypopharynx ORPHA:494547 ICD-10:C12 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C13.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C13.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C13.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B6D.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10041849 E (Exact mapping: the two concepts are equivalent) OMIM:275355 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0280321 E (Exact mapping: the two concepts are equivalent) A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia. Orphanet ICD-10:C32.8 MedDRA:10023856 OMIM:275355 UMLS:C0280324 Adolescent Adult Childhood Elderly Europe AND has_annual_incidence_average_value : 4.61 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=494550 Squamous cell carcinoma of the larynx ORPHA:494550 ICD-10:C32.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10023856 E (Exact mapping: the two concepts are equivalent) OMIM:275355 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0280324 E (Exact mapping: the two concepts are equivalent) 7p14.1 CDC2L CHED KIAA1791 cholinesterase-related cell division controller ClinVar:CDK13 Ensembl:ENSG00000065883 Genatlas:CDK13 HGNC:1733 IUPHAR:1966 OMIM:603309 Reactome:Q14004 SwissProt:Q14004 CDK13 cyclin dependent kinase 13 1p36.33 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 transducin beta chain 1 ClinVar:GNB1 Ensembl:ENSG00000078369 Genatlas:GNB1 HGNC:4396 OMIM:139380 Reactome:P62873 SwissProt:P62873 GNB1 G protein subunit beta 1 10q26.3 COE3 DKFZp667B0210 Transcription factor COE3 ClinVar:EBF3 Ensembl:ENSG00000108001 Genatlas:EBF3 HGNC:19087 OMIM:607407 SwissProt:Q9H4W6 EBF3 EBF transcription factor 3 3p21.31 AB-DIP FLJ20259 VERBRAS Ensembl:ENSG00000198218 HGNC:24713 OMIM:617387 Reactome:Q2TAL8 SwissProt:Q2TAL8 QRICH1 glutamine rich 1 9q34.11 2PP2A HLA-DR-associated protein II IGAAD IPP2A2 PHAPII TAF-I TAF-IBETA Template-Activating Factor-I Template-Activating Factor-I, chromatin remodelling factor chromatin remodelling factor inhibitor of granzyme A-activated DNase protein phosphatase type 2A inhibitor ClinVar:SET Ensembl:ENSG00000119335 Genatlas:SET HGNC:10760 OMIM:600960 Reactome:Q01105 SwissProt:Q01105 SET SET nuclear proto-oncogene 16p11.2 KIAA0339 KMT2F SET1A Set1 ClinVar:SETD1A Ensembl:ENSG00000099381 Genatlas:SETD1A HGNC:29010 IUPHAR:2700 OMIM:611052 Reactome:O15047 SwissProt:O15047 SETD1A SET domain containing 1A, histone lysine methyltransferase 4q24 FERRY1 Fy-1 HSPC302 MGC16169 ClinVar:TBCK Ensembl:ENSG00000145348 Genatlas:TBCK HGNC:28261 IUPHAR:2236 OMIM:616899 SwissProt:Q8TEA7 TBCK TBC1 domain containing kinase Greither disease Keratosis extremitatum hereditaria progrediens Keratosis palmoplantaris transgrediens et progrediens Progressive diffuse PPK Progressive diffuse palmoplantar keratoderma Transgrediens et progrediens PPK A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen. Orphanet ICD-10:Q82.8 OMIM:133200 UMLS:C1851480 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=495 Transgrediens et progrediens palmoplantar keratoderma ORPHA:495 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:133200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1851480 E (Exact mapping: the two concepts are equivalent) 3q21.3 NOV ClinVar:PLXNA1 Ensembl:ENSG00000114554 Genatlas:PLXNA1 HGNC:9099 OMIM:601055 Reactome:Q9UIW2 SwissProt:Q9UIW2 PLXNA1 plexin A1 21q22.11 B17 C2TA DKFZP434M035 ClinVar:DONSON Ensembl:ENSG00000159147 Genatlas:DONSON HGNC:2993 OMIM:611428 SwissProt:Q9NYP3 DONSON DNA replication fork stabilization factor DONSON Xp11.3 NHE-7 NHE7 Sodium/hydrogen exchanger 7 ClinVar:SLC9A7 Ensembl:ENSG00000065923 Genatlas:SLC9A7 HGNC:17123 IUPHAR:954 OMIM:300368 Reactome:Q96T83 SwissProt:Q96T83 SLC9A7 solute carrier family 9 member A7 17q23.3 LYK5 NY-BR-96 STE20-like pseudokinase STRAD Stlk ClinVar:STRADA Ensembl:ENSG00000266173 Genatlas:STRADA HGNC:30172 IUPHAR:2227 OMIM:608626 Reactome:Q7RTN6 SwissProt:Q7RTN6 STRADA STE20 related adaptor alpha AR-CMT2T Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T CMT2T A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. Orphanet ICD-10:G60.0 OMIM:617017 UMLS:C4015635 Autosomal recessive Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=495274 Charcot-Marie-Tooth disease type 2T ORPHA:495274 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617017 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4015635 E (Exact mapping: the two concepts are equivalent) 7q11.23 14-3-3 gamma 14-3-3? 14-3-3GAMMA PPP1R170 protein phosphatase 1, regulatory subunit 170 ClinVar:YWHAG Ensembl:ENSG00000170027 Genatlas:YWHAG HGNC:12852 OMIM:605356 Reactome:P61981 SwissProt:P61981 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. Orphanet ICD-10:D65 ICD-11:3B20 MedDRA:10037556 UMLS:C4510896 Not applicable Adult Childhood Infancy Neonatal Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=49566 Acquired purpura fulminans ORPHA:49566 ICD-10:D65 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10037556 E (Exact mapping: the two concepts are equivalent) UMLS:C4510896 E (Exact mapping: the two concepts are equivalent) 6q22.1 CAL FIG GOPC1 PIST dJ94G16.2 ClinVar:GOPC Ensembl:ENSG00000047932 Genatlas:GOPC HGNC:17643 OMIM:606845 Reactome:Q9HD26 SwissProt:Q9HD26 GOPC golgi associated PDZ and coiled-coil motif containing 4p16.1 AIP1 actin-interacting protein 1 ClinVar:WDR1 Ensembl:ENSG00000071127 Genatlas:WDR1 HGNC:12754 OMIM:604734 Reactome:O75083 SwissProt:O75083 WDR1 WD repeat domain 1 14q32.2 IFP53 tryptophan tRNA ligase 1, cytoplasmic ClinVar:WARS Ensembl:ENSG00000140105 Genatlas:WARS HGNC:12729 OMIM:191050 Reactome:P23381 SwissProt:P23381 WARS1 tryptophanyl-tRNA synthetase 1 3p12.3 DUTT1 FLJ21882 SAX3 ClinVar:ROBO1 Ensembl:ENSG00000169855 Genatlas:ROBO1 HGNC:10249 OMIM:602430 Reactome:Q9Y6N7 SwissProt:Q9Y6N7 ROBO1 roundabout guidance receptor 1 Del(9)(q33.3q34.11) Deletion 9q33.3q34.11 Monosomy 9q33.3q34.11 A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. Orphanet ICD-10:Q93.5 UMLS:C5680085 Not applicable Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=495818 9q33.3q34.11 microdeletion syndrome ORPHA:495818 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680085 E (Exact mapping: the two concepts are equivalent) C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy Hypomyelinating leukodystrophy due to hikeshi deficiency A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. Orphanet ICD-10:G93.8 OMIM:616881 UMLS:C5567456 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy ORPHA:495844 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616881 E (Exact mapping: the two concepts are equivalent) UMLS:C5567456 E (Exact mapping: the two concepts are equivalent) Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. Orphanet ICD-10:Q87.8 OMIM:618479 UMLS:C5567455 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618479 E (Exact mapping: the two concepts are equivalent) UMLS:C5567455 E (Exact mapping: the two concepts are equivalent) Congenital absence of the scrotum Congenital scrotal absence Congenital scrotal agenesis A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies. Orphanet ICD-10:Q55.2 UMLS:C1387020 Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=495879 Congenital agenesis of the scrotum ORPHA:495879 ICD-10:Q55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1387020 E (Exact mapping: the two concepts are equivalent) A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor. Orphanet ICD-10:D46.7 OMIM:252270 OMIM:619041 UMLS:C5681220 Childhood Infancy Worldwide AND has_cases/families_value : 14.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=495930 Familial monosomy 7 syndrome ORPHA:495930 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:252270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619041 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681220 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Epidermolytic palmoplantar keratoderma Thost-Unna palmoplantar keratoderma ORPHA:496 9q31.3 CG-6 ClinVar:FRRS1L Ensembl:ENSG00000260230 Genatlas:FRRS1L HGNC:1362 OMIM:604574 SwissProt:Q9P0K9 FRRS1L ferric chelate reductase 1 like 4p16.3 FLJ20265 GPI ethanolamine phosphate transferase 2 GPI7 LAS21 LAS21 (GPI7) homolog (S. cerevisiae) ClinVar:PIGG Ensembl:ENSG00000174227 Genatlas:PIGG HGNC:25985 OMIM:616918 Reactome:Q5H8A4 SwissProt:Q5H8A4 PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) 2p21 ClinVar:SIX2 Ensembl:ENSG00000170577 Genatlas:SIX2 HGNC:10888 OMIM:604994 SwissProt:Q9NPC8 SIX2 SIX homeobox 2 A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. Orphanet ICD-10:G93.4 OMIM:617193 UMLS:C5567454 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 39.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617193 E (Exact mapping: the two concepts are equivalent) UMLS:C5567454 E (Exact mapping: the two concepts are equivalent) 14q11.2 GCPL1 KAE1 OSGEP1 PRSMG1 TCS3 ClinVar:OSGEP Ensembl:ENSG00000092094 Genatlas:OSGEP HGNC:18028 OMIM:610107 Reactome:Q9NPF4 SwissProt:Q9NPF4 OSGEP O-sialoglycoprotein endopeptidase 20q13.12 BUD32 Nori-2p TPRKB dJ101A2.2 p53-related protein kinase prpk ClinVar:TP53RK Ensembl:ENSG00000172315 Genatlas:TP53RK HGNC:16197 IUPHAR:2248 OMIM:608679 Reactome:Q96S44 SwissProt:Q96S44 TP53RK TP53 regulating kinase 2p13.1 CGI-121 CGI121 ClinVar:TPRKB Ensembl:ENSG00000144034 Genatlas:TPRKB HGNC:24259 OMIM:608680 Reactome:Q9Y3C4 SwissProt:Q9Y3C4 TPRKB TP53RK binding protein Xq28 CVG5 DNA segment on chromosome X (unique) 9879 expressed sequence DXS9879E DXS9951E ESO3 ITBA2 Pcc1 ClinVar:LAGE3 Ensembl:ENSG00000196976 Genatlas:LAGE3 HGNC:26058 OMIM:300060 Reactome:Q14657 SwissProt:Q14657 LAGE3 L antigen family member 3 A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. Orphanet ICD-10:G71.2 OMIM:617114 UMLS:C5567453 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome ORPHA:496686 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617114 E (Exact mapping: the two concepts are equivalent) UMLS:C5567453 E (Exact mapping: the two concepts are equivalent) Kyphoscoliosis-lateral tongue atrophy-HSP syndrome A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. Orphanet ICD-10:G11.4 UMLS:C5567452 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome ORPHA:496689 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567452 E (Exact mapping: the two concepts are equivalent) Gershoni-Baruch syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period. Orphanet ICD-10:Q87.8 MeSH:C563701 OMIM:609545 UMLS:C1836007 Antenatal Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563701 E (Exact mapping: the two concepts are equivalent) OMIM:609545 E (Exact mapping: the two concepts are equivalent) UMLS:C1836007 E (Exact mapping: the two concepts are equivalent) 15q21.1 Pat1a ClinVar:PATL2 Ensembl:ENSG00000229474 Genatlas:PATL2 HGNC:33630 OMIM:614661 SwissProt:C9JE40 PATL2 PAT1 homolog 2 16p13.3 MGC35212 ClinVar:MEIOB Ensembl:ENSG00000162039 Genatlas:MEIOB HGNC:28569 OMIM:617670 SwissProt:Q8N635 MEIOB meiosis specific with OB-fold Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Orphanet ICD-10:Q87.8 OMIM:616854 UMLS:C4225180 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496751 EVEN-plus syndrome ORPHA:496751 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616854 E (Exact mapping: the two concepts are equivalent) UMLS:C4225180 E (Exact mapping: the two concepts are equivalent) A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. Orphanet ICD-10:G31.8 OMIM:617207 UMLS:C5567451 Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617207 E (Exact mapping: the two concepts are equivalent) UMLS:C5567451 E (Exact mapping: the two concepts are equivalent) 16q22.1-q22.2 ArPIKfyve FLJ10305 ClinVar:VAC14 Ensembl:ENSG00000103043 Genatlas:VAC14 HGNC:25507 OMIM:604632 Reactome:Q08AM6 SwissProt:Q08AM6 VAC14 VAC14 component of PIKFYVE complex Harel-Yoon syndrome A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. Orphanet ICD-10:E88.8 OMIM:617183 UMLS:C4310677 Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617183 E (Exact mapping: the two concepts are equivalent) UMLS:C4310677 E (Exact mapping: the two concepts are equivalent) 11q13.5 ClinVar:DGAT2 Ensembl:ENSG00000062282 Genatlas:DGAT2 HGNC:16940 IUPHAR:3211 OMIM:606983 Reactome:Q96PD7 SwissProt:Q96PD7 DGAT2 diacylglycerol O-acyltransferase 2 10p15.3 bA631M21.2 class VIII beta-tubulin ClinVar:TUBB8 Ensembl:ENSG00000261456 Genatlas:TUBB8 HGNC:20773 IUPHAR:2753 OMIM:616768 Reactome:Q3ZCM7 SwissProt:Q3ZCM7 TUBB8 tubulin beta 8 class VIII UMLS:C5681226 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496916 Rare genetic hyperkinetic movement disorder Category ORPHA:496916 UMLS:C5681226 E (Exact mapping: the two concepts are equivalent) UMLS:C5681227 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=496924 Non-inflammatory vasculopathy Category ORPHA:496924 UMLS:C5681227 E (Exact mapping: the two concepts are equivalent) 12p13.31 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 transducin beta chain 3 ClinVar:GNB3 Ensembl:ENSG00000111664 Genatlas:GNB3 HGNC:4400 OMIM:139130 Reactome:P16520 SwissProt:P16520 GNB3 G protein subunit beta 3 11q24.2 DEG1 FKSG32 tRNA pseudouridine(38/39) synthase tRNA-uridine isomerase 3 ClinVar:PUS3 Ensembl:ENSG00000110060 Genatlas:PUS3 HGNC:25461 OMIM:616283 Reactome:Q9BZE2 SwissProt:Q9BZE2 PUS3 pseudouridine synthase 3 16p13.3 KIAA0683 TEL2 hCLK2 ClinVar:TELO2 Ensembl:ENSG00000100726 Genatlas:TELO2 HGNC:29099 OMIM:611140 Reactome:Q9Y4R8 SwissProt:Q9Y4R8 TELO2 telomere maintenance 2 DIPG A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade. Orphanet ICD-10:C72.8 MeSH:D000080443 UMLS:C2986658 All ages Netherlands AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=497188 Diffuse intrinsic pontine glioma ORPHA:497188 ICD-10:C72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D000080443 E (Exact mapping: the two concepts are equivalent) UMLS:C2986658 E (Exact mapping: the two concepts are equivalent) C12ORF65-related COXPD UMLS:C5680089 All ages Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=497623 C12ORF65-related combined oxidative phosphorylation defect Clinical group ORPHA:497623 UMLS:C5680089 E (Exact mapping: the two concepts are equivalent) Epidermal nevus with epidermolytic hyperkeratosis Epidermolytic epidermal nevus Epidermolytic verrucous epidermal nevus A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma. Orphanet ICD-10:Q82.5 ICD-11:LC00.Y UMLS:C1302848 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=497737 Epidermolytic nevus ORPHA:497737 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1302848 E (Exact mapping: the two concepts are equivalent) MME-related autosomal dominant CMT2 MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. Orphanet ICD-10:G60.0 OMIM:617017 UMLS:C5567450 Autosomal dominant Adult Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 ORPHA:497757 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617017 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5567450 E (Exact mapping: the two concepts are equivalent) SCA43 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. Orphanet ICD-10:G11.2 ICD-11:8A03.16 OMIM:617017 UMLS:C4310763 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=497764 Spinocerebellar ataxia type 43 ORPHA:497764 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617017 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4310763 E (Exact mapping: the two concepts are equivalent) Lenk-Ploski syndrome A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. Orphanet ICD-10:G31.8 OMIM:617054 UMLS:C4310743 Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=497906 Childhood-onset basal ganglia degeneration syndrome ORPHA:497906 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617054 E (Exact mapping: the two concepts are equivalent) UMLS:C4310743 E (Exact mapping: the two concepts are equivalent) ICD-11:ED56 MedDRA:10083835 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498 Keratosis pilaris atrophicans Clinical group ORPHA:498 ICD-11:ED56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10083835 E (Exact mapping: the two concepts are equivalent) Amyloid lichen Lichen amyloidosus Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. Orphanet ICD-10:E85.4+ ICD-10:L99.0* ICD-11:5D00.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=49804 Lichen amyloidosis ORPHA:49804 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Cystic epithelial-stromal tumors of the prostate Cystosarcoma phyllodes of the prostate Phyllodes type of atypical prostatic hyperplasia A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention, or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy. Orphanet ICD-10:C61 UMLS:C1335409 Adult Elderly Worldwide AND has_cases/families_value : 90.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498228 Phyllodes tumor of the prostate ORPHA:498228 ICD-10:C61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1335409 E (Exact mapping: the two concepts are equivalent) Luteal-phase-dependent febrile episode Luteal-phase-dependent periodic fever Menstrual cycle-dependent febrile episode A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women. Orphanet ICD-10:N94.8 UMLS:C3553418 Adolescent Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498251 Menstrual cycle-dependent periodic fever ORPHA:498251 ICD-10:N94.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3553418 E (Exact mapping: the two concepts are equivalent) Rogers syndrome TRMA Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. Orphanet ICD-10:D53.1 ICD-11:5C63.Y MeSH:C536510 OMIM:249270 UMLS:C0342287 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=49827 Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827 ICD-10:D53.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536510 E (Exact mapping: the two concepts are equivalent) OMIM:249270 E (Exact mapping: the two concepts are equivalent) UMLS:C0342287 E (Exact mapping: the two concepts are equivalent) 16q23.1 FANCW FLJ10520 RNF201 ClinVar:RFWD3 Ensembl:ENSG00000168411 Genatlas:RFWD3 HGNC:25539 OMIM:614151 Reactome:Q6PCD5 SwissProt:Q6PCD5 RFWD3 ring finger and WD repeat domain 3 14q32.33 DKFZp434N0820 FLJ36164 NET54 ClinVar:TDRD9 Ensembl:ENSG00000156414 Genatlas:TDRD9 HGNC:20122 OMIM:617963 Reactome:Q8NDG6 SwissProt:Q8NDG6 TDRD9 tudor domain containing 9 15q24.3 Zfp291 ClinVar:SCAPER Ensembl:ENSG00000140386 Genatlas:SCAPER HGNC:13081 OMIM:611611 SwissProt:Q9BY12 SCAPER S-phase cyclin A associated protein in the ER UMLS:C5681238 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498345 Biliary atresia and associated disorders Category ORPHA:498345 UMLS:C5681238 E (Exact mapping: the two concepts are equivalent) UMLS:C5681237 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498350 Syndromic biliary atresia Clinical group ORPHA:498350 UMLS:C5681237 E (Exact mapping: the two concepts are equivalent) Aquagenic keratoderma Aquagenic syringeal acrokeratoderma Aquagenic wrinkling of the palms Transient reactive papulotranslucent acrokeratoderma A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis. Orphanet ICD-10:L85.1 ICD-11:EK5Y UMLS:C4087301 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498359 Aquagenic palmoplantar keratoderma ORPHA:498359 ICD-10:L85.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EK5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4087301 E (Exact mapping: the two concepts are equivalent) UMLS:C5681235 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498445 Genetic inflammatory or rheumatoid-like osteoarthropathy Category ORPHA:498445 UMLS:C5681235 E (Exact mapping: the two concepts are equivalent) UMLS:C5681234 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498448 Overgrowth or tall stature syndrome with skeletal involvement Category ORPHA:498448 UMLS:C5681234 E (Exact mapping: the two concepts are equivalent) UMLS:C5681233 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498451 Dysostosis with brachydactyly without extraskeletal manifestations Category ORPHA:498451 UMLS:C5681233 E (Exact mapping: the two concepts are equivalent) UMLS:C5681833 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498454 Dysostosis with brachydactyly with extraskeletal manifestations Category ORPHA:498454 UMLS:C5681833 E (Exact mapping: the two concepts are equivalent) UMLS:C5681232 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498457 Non-syndromic longitudinal limb defect Category ORPHA:498457 UMLS:C5681232 E (Exact mapping: the two concepts are equivalent) UMLS:C5681231 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498461 Non-syndromic terminal transverse limb defect Category ORPHA:498461 UMLS:C5681231 E (Exact mapping: the two concepts are equivalent) UMLS:C5681229 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498464 Non-syndromic preaxial polydactyly Category ORPHA:498464 UMLS:C5681229 E (Exact mapping: the two concepts are equivalent) UMLS:C5681228 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498467 Non-syndromic postaxial polydactyly Category ORPHA:498467 UMLS:C5681228 E (Exact mapping: the two concepts are equivalent) UMLS:C5681241 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498470 Non-syndromic complex polydactyly Category ORPHA:498470 UMLS:C5681241 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, increased susceptibility to infections, and severe failure to thrive. Orphanet ICD-10:Q82.8 UMLS:C5574677 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498474 Hyaline fibromatosis syndrome ORPHA:498474 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5574677 E (Exact mapping: the two concepts are equivalent) UMLS:C5681242 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498477 Ectrodactyly with and without other manifestations Category ORPHA:498477 UMLS:C5681242 E (Exact mapping: the two concepts are equivalent) A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence. Orphanet ICD-10:M85.8 UMLS:C5567241 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498481 LRP5-related primary osteoporosis ORPHA:498481 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567241 E (Exact mapping: the two concepts are equivalent) A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C537355 OMIM:608811 UMLS:C1837316 Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome ORPHA:498485 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537355 E (Exact mapping: the two concepts are equivalent) OMIM:608811 E (Exact mapping: the two concepts are equivalent) UMLS:C1837316 E (Exact mapping: the two concepts are equivalent) A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported. Orphanet ICD-10:Q87.3 ICD-11:LD2C UMLS:C5567236 Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498488 Overgrowth syndrome with 2q37 translocation ORPHA:498488 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567236 E (Exact mapping: the two concepts are equivalent) UMLS:C5681243 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498491 Non-syndromic complete hemimelia Category ORPHA:498491 UMLS:C5681243 E (Exact mapping: the two concepts are equivalent) A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. Orphanet ICD-10:Q74.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498494 Mirror-image polydactyly ORPHA:498494 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Orphanet ICD-10:Q77.2 OMIM:614091 UMLS:C5681240 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498497 Short rib-polydactyly syndrome type 5 ORPHA:498497 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614091 E (Exact mapping: the two concepts are equivalent) UMLS:C5681240 E (Exact mapping: the two concepts are equivalent) Sugarman-Hager-Kulik syndrome Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q71.8 OMIM:272150 UMLS:C5399870 Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498602 Sugarman brachydactyly ORPHA:498602 ICD-10:Q71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:272150 E (Exact mapping: the two concepts are equivalent) UMLS:C5399870 E (Exact mapping: the two concepts are equivalent) MYBPC1-related autosomal recessive non-lethal AMC syndrome A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and <i>pectus excavatum</i>, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia. Orphanet ICD-10:Q74.3 UMLS:C5680092 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome ORPHA:498693 ICD-10:Q74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680092 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with neurexin-3 antibodies ORPHA:498700 5q32 CaM kinase II alpha subunit CaM-kinase II alpha chain CaMK-II alpha subunit CaMKIINalpha CaMKIIa KIAA0968 calcium/calmodulin-dependent protein kinase II alpha-B subunit calcium/calmodulin-dependent protein kinase type II alpha chain ClinVar:CAMK2A Ensembl:ENSG00000070808 Genatlas:CAMK2A HGNC:1460 IUPHAR:1555 OMIM:114078 Reactome:Q9UQM7 SwissProt:Q9UQM7 CAMK2A calcium/calmodulin dependent protein kinase II alpha 7p13 CAM2 CAMK2 CaM kinase II beta subunit CaM-kinase II beta chain CaMKIIß calcium/calmodulin-dependent protein kinase type II beta chain proline rich calmodulin-dependent protein kinase ClinVar:CAMK2B Ensembl:ENSG00000058404 Genatlas:CAMK2B HGNC:1461 IUPHAR:1556 OMIM:607707 Reactome:Q13554 SwissProt:Q13554 CAMK2B calcium/calmodulin dependent protein kinase II beta 10q23.33 CT111 FLJ10540 cancer/testis antigen 111 ClinVar:CEP55 Ensembl:ENSG00000138180 Genatlas:CEP55 HGNC:1161 OMIM:610000 Reactome:Q53EZ4 SwissProt:Q53EZ4 CEP55 centrosomal protein 55 A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by <i>Trichophyton</i> or <i>Microsporum</i> fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy. Orphanet ICD-10:B35.0 ICD-11:1F28.4 UMLS:C0276742 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499 Kerion celsi ORPHA:499 ICD-10:B35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:1F28.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0276742 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central nervous system tuberculosis OBSOLETE: Tuberculous meningitis ORPHA:499004 MTCT of syphilis Mother-to-child transmission of syphilis A rare teratologic disease caused by vertical transmission of the spirochete <i>Treponema pallidum</i> from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops. Orphanet ICD-10:A50.0 ICD-10:A50.1 ICD-10:A50.2 ICD-10:A50.3 ICD-10:A50.4 ICD-10:A50.5 ICD-10:A50.6 ICD-11:1A60 MeSH:D013590 MedDRA:10010641 UMLS:C0039131 Not applicable Antenatal Neonatal Bulgaria AND has_birth_prevalence_average_value : 26.6 AND has_birth_prevalence_range : 1-5 / 10 000 Czech Republic AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 1.04 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Greece AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Lithuania AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 5.4 AND has_birth_prevalence_range : 1-9 / 100 000 Romania AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 15.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499009 Congenital syphilis ORPHA:499009 ICD-10:A50.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A50.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A50.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A50.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A50.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A50.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A50.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013590 E (Exact mapping: the two concepts are equivalent) MedDRA:10010641 E (Exact mapping: the two concepts are equivalent) UMLS:C0039131 E (Exact mapping: the two concepts are equivalent) UMLS:C5681239 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499047 Autoimmune/inflammatory optic neuropathy Clinical group ORPHA:499047 UMLS:C5681239 E (Exact mapping: the two concepts are equivalent) CRION A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves. Orphanet ICD-10:H46 UMLS:C5567234 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499085 Chronic relapsing inflammatory optic neuritis Clinical subtype ORPHA:499085 ICD-10:H46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567234 E (Exact mapping: the two concepts are equivalent) ION A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis. Orphanet ICD-10:H46 ICD-11:9C40.1 MedDRA:10030942 UMLS:C0022023 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499096 Isolated optic neuritis ORPHA:499096 ICD-10:H46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9C40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10030942 E (Exact mapping: the two concepts are equivalent) UMLS:C0022023 E (Exact mapping: the two concepts are equivalent) RINR A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe. Orphanet ICD-10:H46 ICD-11:9C40.2 UMLS:C5680094 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499103 Recurrent idiopathic neuroretinitis ORPHA:499103 ICD-10:H46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680094 E (Exact mapping: the two concepts are equivalent) Idiopathic OPN A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral. Orphanet ICD-10:H05.0 ICD-11:9C40.3 UMLS:C5680093 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499107 Idiopathic optic perineuritis ORPHA:499107 ICD-10:H05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C40.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680093 E (Exact mapping: the two concepts are equivalent) Calcified epithelial carcinoma of Malherbe Calcifying epitheliocarcinoma Malignant pilomatricoma Trichomatrical carcinoma A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported. Orphanet ICD-10:C44.3 ICD-10:C44.4 MedDRA:10075614 UMLS:C0585475 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=499182 Pilomatrix carcinoma ORPHA:499182 ICD-10:C44.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C44.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10075614 E (Exact mapping: the two concepts are equivalent) UMLS:C0585475 E (Exact mapping: the two concepts are equivalent) 19p13.3 ABCX ClinVar:ABCA7 Ensembl:ENSG00000064687 Genatlas:ABCA7 HGNC:37 IUPHAR:762 OMIM:605414 Reactome:Q8IZY2 SwissProt:Q8IZY2 ABCA7 ATP binding cassette subfamily A member 7 LCHAD deficiency LCHADD Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy. Orphanet ICD-10:E71.3 ICD-11:5C52.01 OMIM:609016 UMLS:C3711645 Autosomal recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 1.24 AND has_birth_prevalence_range : 1-9 / 100 000 Estonia AND has_birth_prevalence_average_value : 1.09 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Poland AND has_birth_prevalence_average_value : 0.84 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609016 E (Exact mapping: the two concepts are equivalent) UMLS:C3711645 E (Exact mapping: the two concepts are equivalent) Agenesis of corpus callosum with chorioretinal abnormality A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females. Orphanet ICD-10:Q04.0 ICD-11:LD20.Y MeSH:D058540 MedDRA:10054935 OMIM:304050 UMLS:C0175713 X-linked dominant Neonatal Netherlands AND has_birth_prevalence_average_value : 1.07 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.95 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50 Aicardi syndrome ORPHA:50 ICD-10:Q04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058540 E (Exact mapping: the two concepts are equivalent) MedDRA:10054935 E (Exact mapping: the two concepts are equivalent) OMIM:304050 E (Exact mapping: the two concepts are equivalent) UMLS:C0175713 E (Exact mapping: the two concepts are equivalent) Cardiomyopathic lentiginosis Familial multiple lentigines syndrome LEOPARD syndrome A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:D044542 MedDRA:10062901 OMIM:151100 OMIM:611554 OMIM:613707 UMLS:C0175704 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 296.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500 Noonan syndrome with multiple lentigines ORPHA:500 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D044542 E (Exact mapping: the two concepts are equivalent) MedDRA:10062901 E (Exact mapping: the two concepts are equivalent) OMIM:151100 E (Exact mapping: the two concepts are equivalent) OMIM:611554 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613707 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0175704 E (Exact mapping: the two concepts are equivalent) Chromosome 16p13.2 deletion syndrome Del(16)(p13.2) Monosomy 16p13.2 A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. Orphanet ICD-10:Q93.5 OMIM:616863 Not applicable Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Etiological subtype ORPHA:500055 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616863 NTBT (ORPHAcode is narrower than the targeted code used to represent it) ORAS OTULIN deficiency OTULIN-related autoinflammatory syndrome Otulipenia A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. Orphanet ICD-10:D89.8 OMIM:617099 UMLS:C4310614 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome ORPHA:500062 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617099 E (Exact mapping: the two concepts are equivalent) UMLS:C4310614 E (Exact mapping: the two concepts are equivalent) Thauvin-Robinet-Faivre syndrome A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:617107 UMLS:C4310715 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500095 Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617107 E (Exact mapping: the two concepts are equivalent) UMLS:C4310715 E (Exact mapping: the two concepts are equivalent) MARCH syndrome A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die <i>in utero</i> or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells. Orphanet ICD-10:Q87.8 OMIM:236500 UMLS:C1856053 Antenatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:236500 E (Exact mapping: the two concepts are equivalent) UMLS:C1856053 E (Exact mapping: the two concepts are equivalent) Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome PEBAS A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Orphanet ICD-10:Q07.8 OMIM:617669 UMLS:C5567229 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617669 E (Exact mapping: the two concepts are equivalent) UMLS:C5567229 E (Exact mapping: the two concepts are equivalent) ZTTK syndrome Zhu-Tokita-Takenouchi-Kim syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. Orphanet ICD-10:Q87.8 MedDRA:10081208 OMIM:617140 UMLS:C4310696 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10081208 E (Exact mapping: the two concepts are equivalent) OMIM:617140 E (Exact mapping: the two concepts are equivalent) UMLS:C4310696 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities. Orphanet ICD-10:Q87.0 OMIM:617751 UMLS:C4540321 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom ORPHA:500159 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617751 E (Exact mapping: the two concepts are equivalent) UMLS:C4540321 E (Exact mapping: the two concepts are equivalent) SIN3A-related intellectual disability syndrome WITKOS A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. Orphanet ICD-10:Q87.8 OMIM:613406 UMLS:C4310804 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500163 Witteveen-Kolk syndrome ORPHA:500163 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613406 E (Exact mapping: the two concepts are equivalent) UMLS:C4310804 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 OMIM:613406 UMLS:C5681223 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500166 SIN3-related intellectual disability syndrome due to a point mutation Etiological subtype ORPHA:500166 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613406 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681223 E (Exact mapping: the two concepts are equivalent) A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. Orphanet ICD-10:G31.8 OMIM:617672 UMLS:C5567227 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ORPHA:500180 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617672 E (Exact mapping: the two concepts are equivalent) UMLS:C5567227 E (Exact mapping: the two concepts are equivalent) A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent. Orphanet ICD-10:H91.8 OMIM:301018 UMLS:C5567226 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188 ICD-10:H91.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:301018 E (Exact mapping: the two concepts are equivalent) UMLS:C5567226 E (Exact mapping: the two concepts are equivalent) 6q27 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A ClinVar:PDE10A Ensembl:ENSG00000112541 Genatlas:PDE10A HGNC:8772 IUPHAR:1310 OMIM:610652 Reactome:Q9Y233 SwissProt:Q9Y233 PDE10A phosphodiesterase 10A 16q24.1 COX4-1 COXIV COXIV-1 ClinVar:COX4I1 Ensembl:ENSG00000131143 Genatlas:COX4I1 HGNC:2265 OMIM:123864 Reactome:P13073 SwissProt:P13073 COX4I1 cytochrome c oxidase subunit 4I1 1q31.3 FHR2 ClinVar:CFHR2 Ensembl:ENSG00000080910 Genatlas:CFHR2 HGNC:4890 OMIM:600889 Reactome:P36980 SwissProt:P36980 CFHR2 complement factor H related 2 9q34.12 RRP4 Rrp4p hRrp4p homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4) p7 ClinVar:EXOSC2 Ensembl:ENSG00000130713 Genatlas:EXOSC2 HGNC:17097 OMIM:602238 Reactome:Q13868 SwissProt:Q13868 EXOSC2 exosome component 2 Squamous cell carcinoma of the nasal cavity and sinuses A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type. Orphanet ICD-10:D02.3 OMIM:275355 UMLS:C0280332 Adult Elderly Worldwide AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses ORPHA:500464 ICD-10:D02.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:275355 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0280332 E (Exact mapping: the two concepts are equivalent) A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors. Orphanet ICD-10:C10.8 ICD-11:2B6A.0 MedDRA:10031112 OMIM:275355 UMLS:C0280313 Adolescent Adult Elderly Europe AND has_annual_incidence_average_value : 3.12 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500478 Squamous cell carcinoma of the oropharynx ORPHA:500478 ICD-10:C10.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B6A.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10031112 E (Exact mapping: the two concepts are equivalent) OMIM:275355 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0280313 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Squamous cell carcinoma of salivary glands ORPHA:500481 6q22.1 MGC7199 NgBR Nogo-B receptor TANGO14 transport and golgi organization 14 homolog (Drosophila) ClinVar:NUS1 Ensembl:ENSG00000153989 Genatlas:NUS1 HGNC:21042 OMIM:610463 Reactome:Q96E22 SwissProt:Q96E22 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit 4q24 CNA1 PPP2B calcineurin A alpha protein phosphatase 2B, catalytic subunit, alpha isoform ClinVar:PPP3CA Ensembl:ENSG00000138814 Genatlas:PPP3CA HGNC:9314 OMIM:114105 Reactome:Q08209 SwissProt:Q08209 PPP3CA protein phosphatase 3 catalytic subunit alpha 1p13.3 APC1 ATP-Mg/P(i) co-transporter 1 Calcium-binding mitochondrial carrier protein SCaMC-1 DKFZp586G0123 SCAMC-1 SCAMC1 small calcium-binding mitochondrial carrier protein 1 ClinVar:SLC25A24 Ensembl:ENSG00000085491 Genatlas:SLC25A24 HGNC:20662 IUPHAR:1077 OMIM:608744 SwissProt:Q6NUK1 SLC25A24 solute carrier family 25 member 24 PMSE syndrome A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others. Orphanet ICD-10:G40.4 MeSH:C567020 OMIM:611087 UMLS:C1970203 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567020 E (Exact mapping: the two concepts are equivalent) OMIM:611087 E (Exact mapping: the two concepts are equivalent) UMLS:C1970203 E (Exact mapping: the two concepts are equivalent) A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy. Orphanet ICD-10:F84.8 OMIM:617393 UMLS:C5568106 Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545 ICD-10:F84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617393 E (Exact mapping: the two concepts are equivalent) UMLS:C5568106 E (Exact mapping: the two concepts are equivalent) A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated. Orphanet ICD-10:Q78.5 OMIM:615198 UMLS:C3554665 Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=500548 Osteosclerotic metaphyseal dysplasia ORPHA:500548 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615198 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3554665 E (Exact mapping: the two concepts are equivalent) 12q21.32 FLJ90492 SMILE ClinVar:TMTC3 Ensembl:ENSG00000139324 Genatlas:TMTC3 HGNC:26899 OMIM:617218 Reactome:Q6ZXV5 SwissProt:Q6ZXV5 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 12q13.3 ClinVar:GLI1 Ensembl:ENSG00000111087 Genatlas:GLI1 HGNC:4317 OMIM:165220 Reactome:P08151 SwissProt:P08151 GLI1 GLI family zinc finger 1 22q13.1 PIG27 dJ327J16 ClinVar:DNAL4 Ensembl:ENSG00000100246 Genatlas:DNAL4 HGNC:2955 OMIM:610565 Reactome:O96015 SwissProt:O96015 DNAL4 dynein axonemal light chain 4 4q13.3 ADAMTS-4 KIAA0366 ClinVar:ADAMTS3 Ensembl:ENSG00000156140 Genatlas:ADAMTS3 HGNC:219 IUPHAR:1676 OMIM:605011 Reactome:O15072 SwissProt:O15072 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 EPM2 PME type 2 Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy type 2 A rare, inherited, severe form of progressive myoclonus epilepsy characterized by drug-resistant epilepsy, myoclonus, and psychomotor deterioration affecting previously healthy children or adolescents. Orphanet ICD-10:G40.3 ICD-11:8A61.41 MeSH:D020192 MedDRA:10054030 OMIM:254780 UMLS:C0751783 Autosomal recessive Adolescent Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=501 Lafora disease ORPHA:501 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020192 E (Exact mapping: the two concepts are equivalent) MedDRA:10054030 E (Exact mapping: the two concepts are equivalent) OMIM:254780 E (Exact mapping: the two concepts are equivalent) UMLS:C0751783 E (Exact mapping: the two concepts are equivalent) 16q21 CAD11 OB OB-Cadherin ClinVar:CDH11 Ensembl:ENSG00000140937 Genatlas:CDH11 HGNC:1750 OMIM:600023 Reactome:P55287 SwissProt:P55287 CDH11 cadherin 11 12q24.11 FLJ37587 Unconventional myosin-Ih ClinVar:MYO1H Ensembl:ENSG00000174527 Genatlas:MYO1H HGNC:13879 OMIM:614636 SwissProt:Q8N1T3 MYO1H myosin IH 1q21.3 IFPS ifapsoriasin ClinVar:FLG2 Ensembl:ENSG00000143520 Genatlas:FLG2 HGNC:33276 OMIM:616284 Reactome:Q5D862 SwissProt:Q5D862 FLG2 filaggrin 2 Langer-Giedion syndrome A rare multiple congenital anomalies syndrome characterized by intellectual disability, short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses. Orphanet ICD-10:Q87.8 ICD-11:LD24.80 MeSH:D015826 MedDRA:10050638 OMIM:150230 UMLS:C0023003 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502 Trichorhinophalangeal syndrome type 2 ORPHA:502 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.80 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015826 E (Exact mapping: the two concepts are equivalent) MedDRA:10050638 E (Exact mapping: the two concepts are equivalent) OMIM:150230 E (Exact mapping: the two concepts are equivalent) UMLS:C0023003 E (Exact mapping: the two concepts are equivalent) A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence. Orphanet ICD-10:Q16.5 UMLS:C5681225 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502305 Cochleovestibular malformation ORPHA:502305 ICD-10:Q16.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681225 E (Exact mapping: the two concepts are equivalent) A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. Orphanet ICD-10:H93.3 UMLS:C5568535 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502318 Cochlear nerve deficiency ORPHA:502318 ICD-10:H93.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568535 E (Exact mapping: the two concepts are equivalent) A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis. Orphanet ICD-10:C06.9 MedDRA:10041857 OMIM:275355 UMLS:C0585362 Adolescent Adult Childhood Elderly Europe AND has_annual_incidence_average_value : 3.51 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502363 Squamous cell carcinoma of the oral cavity ORPHA:502363 ICD-10:C06.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10041857 E (Exact mapping: the two concepts are equivalent) OMIM:275355 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0585362 E (Exact mapping: the two concepts are equivalent) A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location. Orphanet ICD-10:C00.1 ICD-11:2B60.1 MedDRA:10064055 OMIM:275355 UMLS:C0280302 Adult Elderly Worldwide AND has_annual_incidence_average_value : 1.02 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502366 Squamous cell carcinoma of the lip ORPHA:502366 ICD-10:C00.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10064055 E (Exact mapping: the two concepts are equivalent) OMIM:275355 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0280302 E (Exact mapping: the two concepts are equivalent) UMLS:C0280297 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502369 Squamous cell carcinoma of oral cavity and lip Category ORPHA:502369 UMLS:C0280297 E (Exact mapping: the two concepts are equivalent) Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy. Orphanet ICD-10:G71.3 OMIM:617675 UMLS:C4540096 Adult Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617675 E (Exact mapping: the two concepts are equivalent) UMLS:C4540096 E (Exact mapping: the two concepts are equivalent) Metopic ridging-ptosis-facial dysmorphism syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum. Orphanet ICD-10:Q87.8 OMIM:618619 UMLS:C5568107 Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502430 Weiss-Kruszka Syndrome ORPHA:502430 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618619 E (Exact mapping: the two concepts are equivalent) UMLS:C5568107 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy). Orphanet ICD-10:Q87.0 OMIM:617635 UMLS:C5568769 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome ORPHA:502434 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617635 E (Exact mapping: the two concepts are equivalent) UMLS:C5568769 E (Exact mapping: the two concepts are equivalent) Proximal del(4)(q25) Proximal monosomy 4q25 A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands. Orphanet ICD-10:Q93.5 UMLS:C5680087 Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502437 4q25 proximal deletion syndrome ORPHA:502437 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680087 E (Exact mapping: the two concepts are equivalent) ACER3-related early childhood-onset progressive leukodystrophy Leukodystrophy due to alkaline ceramidase 3 deficiency A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination. Orphanet ICD-10:E75.2 OMIM:617762 UMLS:C4540358 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502444 Alkaline ceramidase 3 deficiency ORPHA:502444 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617762 E (Exact mapping: the two concepts are equivalent) UMLS:C4540358 E (Exact mapping: the two concepts are equivalent) Erythema exsudativum multiforme majus Erythema multiforme majus A rare skin disease characterized most typically by targetoid papules with 3-rings of concentric color variation (dark center, surrounded by lighter pink ring and an outer red ring) symmetrically distributed on the extensor surfaces of the extremities, or more diffuse, accompanied by 2 or more mucosal involvements (erosions of the oral, genital, anal mucosa, conjunctivitis, pseudomembranes). The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, resolving within a few weeks; although, there is a risk of recurrence. The disease is mostly triggered by infectious agents (herpes virus, <i>mycoplasma pneumoniae</i>) but a subset of patients have auto-antibodies targeting plakins. Rare cases of severe mucosal sequelae have been described. Orphanet ICD-10:L51.8 UMLS:C3241919 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=502499 Erythema multiforme major ORPHA:502499 ICD-10:L51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3241919 E (Exact mapping: the two concepts are equivalent) Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis. Orphanet ICD-10:C45.0 ICD-11:2C26.0 MeSH:D008654 MedDRA:10059518 OMIM:156240 UMLS:C1377913 Not applicable All ages Europe AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50251 Pleural mesothelioma ORPHA:50251 ICD-10:C45.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C26.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008654 E (Exact mapping: the two concepts are equivalent) MedDRA:10059518 E (Exact mapping: the two concepts are equivalent) OMIM:156240 E (Exact mapping: the two concepts are equivalent) UMLS:C1377913 E (Exact mapping: the two concepts are equivalent) 10q24.32 ARFL3 ClinVar:ARL3 Ensembl:ENSG00000138175 Genatlas:ARL3 HGNC:694 OMIM:604695 Reactome:P36405 SwissProt:P36405 ARL3 ADP ribosylation factor like GTPase 3 14q13.2 ClinVar:SRP54 Ensembl:ENSG00000100883 Genatlas:SRP54 HGNC:11301 OMIM:604857 Reactome:P61011 SwissProt:P61011 SRP54 signal recognition particle 54 An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. Orphanet ICD-10:Q74.8 ICD-11:LD24.E MeSH:C580241 MedDRA:10073856 OMIM:150250 UMLS:C0175778 Autosomal dominant Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=503 Larsen syndrome ORPHA:503 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580241 E (Exact mapping: the two concepts are equivalent) MedDRA:10073856 E (Exact mapping: the two concepts are equivalent) OMIM:150250 E (Exact mapping: the two concepts are equivalent) UMLS:C0175778 E (Exact mapping: the two concepts are equivalent) 17p13.3 FLJ12614 NRX ClinVar:NXN Ensembl:ENSG00000167693 Genatlas:NXN HGNC:18008 OMIM:612895 SwissProt:Q6DKJ4 NXN nucleoredoxin 13q32.1 CPETRL3 OSP-L ClinVar:CLDN10 Ensembl:ENSG00000134873 Genatlas:CLDN10 HGNC:2033 OMIM:617579 Reactome:P78369 SwissProt:P78369 CLDN10 claudin 10 Migratory myiasis A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area. Orphanet ICD-10:B87.0 ICD-11:1G01.3 MeSH:D007815 MedDRA:10059547 UMLS:C1562462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=504 Creeping myiasis ORPHA:504 ICD-10:B87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1G01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007815 E (Exact mapping: the two concepts are equivalent) MedDRA:10059547 E (Exact mapping: the two concepts are equivalent) UMLS:C1562462 E (Exact mapping: the two concepts are equivalent) CABV syndrome CANVAS Cerebellar ataxia with bilateral vestibulopathy syndrome A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy. Orphanet ICD-10:G11.2 MeSH:C000726747 MedDRA:10078216 OMIM:614575 UMLS:C3281223 Autosomal recessive Adult Elderly Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000726747 E (Exact mapping: the two concepts are equivalent) MedDRA:10078216 E (Exact mapping: the two concepts are equivalent) OMIM:614575 E (Exact mapping: the two concepts are equivalent) UMLS:C3281223 E (Exact mapping: the two concepts are equivalent) SCID due to LAT deficiency A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly. Orphanet ICD-10:D81.2 ICD-11:4A01.10 OMIM:617514 UMLS:C4479588 Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=504523 Severe combined immunodeficiency due to LAT deficiency ORPHA:504523 ICD-10:D81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617514 E (Exact mapping: the two concepts are equivalent) UMLS:C4479588 E (Exact mapping: the two concepts are equivalent) CID due to Moesin deficiency MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:300988 UMLS:C5568123 X-linked recessive Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=504530 Combined immunodeficiency due to Moesin deficiency ORPHA:504530 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300988 E (Exact mapping: the two concepts are equivalent) UMLS:C5568123 E (Exact mapping: the two concepts are equivalent) 17q23.3 BAF60B CRACD2 PRO2451 Rsc6p SWI/SNF complex 60 kDa subunit B Swp73-like protein chromatin remodeling complex BAF60B subunit mammalian chromatin remodeling complex BRG1-associated factor 60B ClinVar:SMARCD2 Ensembl:ENSG00000108604 Genatlas:SMARCD2 HGNC:11107 OMIM:601736 Reactome:Q92925 SwissProt:Q92925 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 1q42.3 GGPPS1 Geranylgeranyl pyrophosphate synthase ClinVar:GGPS1 Ensembl:ENSG00000152904 Genatlas:GGPS1 HGNC:4249 IUPHAR:643 OMIM:606982 Reactome:O95749 SwissProt:O95749 GGPS1 geranylgeranyl diphosphate synthase 1 Graham Little syndrome Piccardi-Lassueur-Little syndrome A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. Orphanet ICD-10:L66.1 ICD-11:EA91.2 UMLS:C4273658 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505 Graham Little-Piccardi-Lassueur syndrome ORPHA:505 ICD-10:L66.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4273658 E (Exact mapping: the two concepts are equivalent) MGA8 A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:617248 UMLS:C5680084 Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505208 3-methylglutaconic aciduria type 8 ORPHA:505208 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617248 E (Exact mapping: the two concepts are equivalent) UMLS:C5680084 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome MGA9 A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:617698 UMLS:C4540171 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505216 3-methylglutaconic aciduria type 9 ORPHA:505216 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617698 E (Exact mapping: the two concepts are equivalent) UMLS:C4540171 E (Exact mapping: the two concepts are equivalent) CID due to GINS1 deficiency Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y OMIM:617827 UMLS:C5568132 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505227 Combined immunodeficiency due to GINS1 deficiency ORPHA:505227 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617827 E (Exact mapping: the two concepts are equivalent) UMLS:C5568132 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy. Orphanet ICD-10:Q87.8 OMIM:617452 UMLS:C5568770 Infancy Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617452 E (Exact mapping: the two concepts are equivalent) UMLS:C5568770 E (Exact mapping: the two concepts are equivalent) Cerebrorenal syndrome, Perez type A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia. Orphanet ICD-10:E83.2 OMIM:617595 UMLS:C5568771 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242 ICD-10:E83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617595 E (Exact mapping: the two concepts are equivalent) UMLS:C5568771 E (Exact mapping: the two concepts are equivalent) Mucopolysaccharidosis-like plus disease A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life. Orphanet ICD-10:Q87.8 OMIM:617303 UMLS:C5568800 Infancy Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617303 E (Exact mapping: the two concepts are equivalent) UMLS:C5568800 E (Exact mapping: the two concepts are equivalent) 3q23 beta'-COP betaprime-COP coatomer protein complex subunit beta prime ClinVar:COPB2 Ensembl:ENSG00000184432 Genatlas:COPB2 HGNC:2232 OMIM:606990 Reactome:P35606 SwissProt:P35606 COPB2 COPI coat complex subunit beta 2 7q34 SSBP mtSSB ClinVar:SSBP1 Ensembl:ENSG00000106028 Genatlas:SSBP1 HGNC:11317 OMIM:600439 Reactome:Q04837 SwissProt:Q04837 SSBP1 single stranded DNA binding protein 1 VIDD A rare respiratory disorder characterized by major reduction of diaphragmatic contractile force together with fiber atrophy in the diaphragm and other respiratory muscles as a consequence of invasive mechanical ventilation. Reduction of diaphragmatic contractile force may be observed even within hours after intubation. The condition can increase weaning time and affects weaning outcome, mortality, and long-term clinical outcomes. Orphanet ICD-10:J95.8 UMLS:C5680083 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505395 Ventilator-induced diaphragmatic dysfunction ORPHA:505395 ICD-10:J95.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680083 E (Exact mapping: the two concepts are equivalent) 15q26.3 FLJ23119 KIAA1790 RIPK6 ROCO1 Roco1 ClinVar:LRRK1 Ensembl:ENSG00000154237 Genatlas:LRRK1 HGNC:18608 IUPHAR:2058 OMIM:610986 Reactome:Q38SD2 SwissProt:Q38SD2 LRRK1 leucine rich repeat kinase 1 19p13.13 BEN domain containing 8 BEND8 BTBD30 NAC-1 NAC1 ClinVar:NACC1 Ensembl:ENSG00000160877 Genatlas:NACC1 HGNC:20967 OMIM:610672 Reactome:Q96RE7 SwissProt:Q96RE7 NACC1 nucleus accumbens associated 1 5q12.3 5-HT1A ClinVar:HTR1A Ensembl:ENSG00000178394 Genatlas:HTR1A HGNC:5286 IUPHAR:1 OMIM:109760 Reactome:P08908 SwissProt:P08908 HTR1A 5-hydroxytryptamine receptor 1A CDD A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay. Orphanet ICD-10:G40.4 MeSH:C564064 MedDRA:10083005 OMIM:300672 UMLS:C4750718 X-linked dominant Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 2.36 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=505652 CDKL5-deficiency disorder ORPHA:505652 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564064 E (Exact mapping: the two concepts are equivalent) MedDRA:10083005 E (Exact mapping: the two concepts are equivalent) OMIM:300672 E (Exact mapping: the two concepts are equivalent) UMLS:C4750718 E (Exact mapping: the two concepts are equivalent) 11q13.1 ClinVar:PLCB3 Ensembl:ENSG00000149782 Genatlas:PLCB3 HGNC:9056 IUPHAR:1405 OMIM:600230 Reactome:Q01970 SwissProt:Q01970 PLCB3 phospholipase C beta 3 Infantile subacute necrotizing encephalopathy Leigh disease A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. Orphanet ICD-10:G31.8 ICD-11:5C53.24 MeSH:D007888 MedDRA:10062950 OMIM:256000 UMLS:C0023264 Autosomal recessive Mitochondrial inheritance X-linked recessive All ages Australia AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506 Leigh syndrome ORPHA:506 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C53.24 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007888 E (Exact mapping: the two concepts are equivalent) MedDRA:10062950 E (Exact mapping: the two concepts are equivalent) OMIM:256000 E (Exact mapping: the two concepts are equivalent) UMLS:C0023264 E (Exact mapping: the two concepts are equivalent) PNEN Pancreatic NEN Pancreatic neuroendocrine neoplasm ICD-11:2C10.1 UMLS:C4305467 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506052 Neuroendocrine neoplasm of pancreas Category ORPHA:506052 ICD-11:2C10.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4305467 E (Exact mapping: the two concepts are equivalent) Functioning PNET Functioning pancreatic NET Functioning pancreatic neuroendocrine tumor Functioning well-differentiated NEN of pancreas Functioning well-differentiated neuroendocrine neoplasm of pancreas Functioning well-differentiated pancreatic NEN Functioning well-differentiated pancreatic neuroendocrine neoplasm UMLS:C1708107 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506060 Functioning neuroendocrine tumor of pancreas Category ORPHA:506060 UMLS:C1708107 E (Exact mapping: the two concepts are equivalent) Non-functioning PNET Non-functioning pancreatic NET Non-functioning pancreatic neuroendocrine tumor Non-functioning well-differentiated NEN of pancreas Non-functioning well-differentiated neuroendocrine neoplasm of pancreas Non-functioning well-differentiated pancreatic NEN Non-functioning well-differentiated pancreatic neuroendocrine neoplasm A rare neuroendocrine tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors <0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumors are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumor spread. Microadenomas are considered benign, while larger tumors may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence. Orphanet ICD-10:C25.9 MeSH:C536126 UMLS:C1334977 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506075 Non-functioning neuroendocrine tumor of pancreas ORPHA:506075 ICD-10:C25.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536126 E (Exact mapping: the two concepts are equivalent) UMLS:C1334977 E (Exact mapping: the two concepts are equivalent) Serotonin-producing PNET Serotonin-producing pancreatic NET Serotonin-producing pancreatic neuroendocrine tumor A rare functioning neuroendocrine tumor of pancreas characterized by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumors tend to be larger than non-functioning tumors and are associated with a poorer prognosis because they are almost always metastatic. Orphanet ICD-10:C25.9 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506090 Serotonin-producing neuroendocrine tumor of pancreas ORPHA:506090 ICD-10:C25.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Pancreatic NEC Pancreatic neuroendocrine carcinoma Poorly-differentiated NEN of pancreas Poorly-differentiated neuroendocrine neoplasm of pancreas Poorly-differentiated pancreatic NEN Poorly-differentiated pancreatic neuroendocrine neoplasm A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin and chromogranin are positive on immunohistochemistry. The Ki-67 proliferation index is typically very high (>60 - 80%). Patients present with back pain, jaundice, and/or non-specific abdominal symptoms. Serum hormone activity is unusual. The tumor is highly aggressive with poor prognosis. Orphanet ICD-10:C25.9 ICD-11:2C10.1 UMLS:C2205506 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506098 Neuroendocrine carcinoma of pancreas ORPHA:506098 ICD-10:C25.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2205506 E (Exact mapping: the two concepts are equivalent) MiNEN of pancreas Pancreatic MiNEN Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor. Orphanet ICD-10:C25.9 UMLS:C5568577 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas ORPHA:506112 ICD-10:C25.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568577 E (Exact mapping: the two concepts are equivalent) OBSOLETE: NET of small intestine This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Neuroendocrine tumor of the small intestine OBSOLETE: Neuroendocrine tumor of small intestine ORPHA:506124 Esophageal NEN Esophageal neuroendocrine neoplasm NEN of esophagus A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome. Orphanet ICD-10:C15.8 ICD-11:2B70.Y UMLS:C1333462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506136 Neuroendocrine neoplasm of esophagus ORPHA:506136 ICD-10:C15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1333462 E (Exact mapping: the two concepts are equivalent) A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities. Orphanet UMLS:C5681217 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506207 Rare disorder potentially indicated for transplant Category ORPHA:506207 UMLS:C5681217 E (Exact mapping: the two concepts are equivalent) UMLS:C5681218 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506210 Rare disorder potentially indicated for liver transplant Category ORPHA:506210 UMLS:C5681218 E (Exact mapping: the two concepts are equivalent) UMLS:C5681219 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506213 Rare disorder potentially indicated for kidney transplant Category ORPHA:506213 UMLS:C5681219 E (Exact mapping: the two concepts are equivalent) UMLS:C5681213 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506216 Rare disorder potentially indicated for bowel transplant Category ORPHA:506216 UMLS:C5681213 E (Exact mapping: the two concepts are equivalent) UMLS:C5681214 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506219 Rare disorder potentially indicated for hematopoietic stem cell transplant Category ORPHA:506219 UMLS:C5681214 E (Exact mapping: the two concepts are equivalent) UMLS:C5681215 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506222 Rare disorder potentially indicated for lung transplant Category ORPHA:506222 UMLS:C5681215 E (Exact mapping: the two concepts are equivalent) UMLS:C5681216 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506225 Rare disorder potentially indicated for heart transplant Category ORPHA:506225 UMLS:C5681216 E (Exact mapping: the two concepts are equivalent) Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome Jejunal atresia-microcephaly-ocular anomalies syndrome A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported. Orphanet ICD-10:Q13.8 MeSH:C565460 OMIM:243605 UMLS:C1855705 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506307 Stromme syndrome ORPHA:506307 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565460 E (Exact mapping: the two concepts are equivalent) OMIM:243605 E (Exact mapping: the two concepts are equivalent) UMLS:C1855705 E (Exact mapping: the two concepts are equivalent) Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency SPLIS Sphingosine phosphate lyase insufficiency syndrome A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). Orphanet ICD-10:E88.8 OMIM:617575 UMLS:C5568768 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency ORPHA:506334 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617575 E (Exact mapping: the two concepts are equivalent) UMLS:C5568768 E (Exact mapping: the two concepts are equivalent) Autosomal recessive complex SPG due to Kennedy pathway dysfunction Autosomal recessive spastic paraplegia type 81 A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. Orphanet ICD-10:G11.4 OMIM:618768 UMLS:C5568576 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction ORPHA:506353 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618768 E (Exact mapping: the two concepts are equivalent) UMLS:C5568576 E (Exact mapping: the two concepts are equivalent) YY1 haploinsufficiency syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety). Orphanet ICD-10:Q87.8 OMIM:617557 UMLS:C4479652 Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506358 Gabriele-de Vries syndrome ORPHA:506358 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617557 E (Exact mapping: the two concepts are equivalent) UMLS:C4479652 E (Exact mapping: the two concepts are equivalent) 22q11.23 CD224 D22S672 D22S732 ClinVar:GGT1 Ensembl:ENSG00000100031 Genatlas:GGT1 HGNC:4250 OMIM:612346 Reactome:P19440 SwissProt:P19440 GGT1 gamma-glutamyltransferase 1 6q21 KIAA1028 bA346C16.3 ClinVar:CDK19 Ensembl:ENSG00000155111 Genatlas:CDK19 HGNC:19338 IUPHAR:1972 OMIM:614720 Reactome:Q9BWU1 SwissProt:Q9BWU1 CDK19 cyclin dependent kinase 19 SJS/TEN overlap syndrome Stevens-Johnson/TEN overlap syndrome Stevens-Johnson/toxic epidermal necrolysis overlap syndrome An intermediate form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving between 10 to 29% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent. Orphanet ICD-10:L51.2 ICD-11:EB13.2 UMLS:C3661878 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Clinical subtype ORPHA:506784 ICD-10:L51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB13.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3661878 E (Exact mapping: the two concepts are equivalent) A parasitic disease caused by different species of the genus <i>Leishmania</i>, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). Orphanet ICD-10:B55.0 ICD-10:B55.1 ICD-10:B55.2 ICD-10:B55.9 ICD-11:1F54 ICD-11:1F54.0 ICD-11:1F54.1 ICD-11:1F54.2 MeSH:D007896 MedDRA:10024198 OMIM:608207 UMLS:C0023281 Not applicable All ages Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=507 Leishmaniasis ORPHA:507 ICD-10:B55.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B55.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B55.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B55.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F54 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F54.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F54.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007896 E (Exact mapping: the two concepts are equivalent) MedDRA:10024198 E (Exact mapping: the two concepts are equivalent) OMIM:608207 E (Exact mapping: the two concepts are equivalent) UMLS:C0023281 E (Exact mapping: the two concepts are equivalent) 12q13.12 BAF60A CRACD1 Rsc6p ClinVar:SMARCD1 Ensembl:ENSG00000066117 Genatlas:SMARCD1 HGNC:11106 OMIM:601735 Reactome:Q96GM5 SwissProt:Q96GM5 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 12q13.3 RDHS SDR-O ClinVar:SDR9C7 Ensembl:ENSG00000170426 Genatlas:SDR9C7 HGNC:29958 OMIM:609769 Reactome:Q8NEX9 SwissProt:Q8NEX9 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 19p13.11 eps15R ClinVar:EPS15L1 Ensembl:ENSG00000127527 Genatlas:EPS15L1 HGNC:24634 OMIM:616826 Reactome:Q9UBC2 SwissProt:Q9UBC2 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 5q31.2 MKLP2 mitotic kinesin-like protein 2 ClinVar:KIF20A Ensembl:ENSG00000112984 Genatlas:KIF20A HGNC:9787 OMIM:605664 Reactome:O95235 SwissProt:O95235 KIF20A kinesin family member 20A 1p12 CT143 FLJ34497 PF6 RP4-776P7.2 ClinVar:SPAG17 Ensembl:ENSG00000155761 Genatlas:SPAG17 HGNC:26620 OMIM:616554 SwissProt:Q6Q759 SPAG17 sperm associated antigen 17 19p13.2 AGF ARP5 angiopoietin-related protein 5 ClinVar:ANGPTL6 Ensembl:ENSG00000130812 Genatlas:ANGPTL6 HGNC:23140 OMIM:609336 SwissProt:Q8NI99 ANGPTL6 angiopoietin like 6 5p15.2 FLJ34884 gumby ubiquitin thioesterase otulin Ensembl:ENSG00000154124 HGNC:25118 IUPHAR:2910 OMIM:615712 Reactome:Q96BN8 SwissProt:Q96BN8 OTULIN OTU deubiquitinase with linear linkage specificity Xq22.1 FLJ37327 GASP2 ClinVar:GPRASP2 Ensembl:ENSG00000158301 Genatlas:GPRASP2 HGNC:25169 OMIM:300969 Reactome:Q96D09 SwissProt:Q96D09 GPRASP2 G protein-coupled receptor associated sorting protein 2 10q26.3 GTX NKX6.1 NKX6B ClinVar:NKX6-2 Ensembl:ENSG00000148826 Genatlas:NKX6-2 HGNC:19321 OMIM:605955 SwissProt:Q9C056 NKX6-2 NK6 homeobox 2 Donohue syndrome Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation. Orphanet ICD-10:E34.8 ICD-11:5A44 MeSH:D056731 MedDRA:10081896 OMIM:246200 UMLS:C0265344 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508 Leprechaunism ORPHA:508 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056731 E (Exact mapping: the two concepts are equivalent) MedDRA:10081896 E (Exact mapping: the two concepts are equivalent) OMIM:246200 E (Exact mapping: the two concepts are equivalent) UMLS:C0265344 E (Exact mapping: the two concepts are equivalent) 17p13.1 U8 Ensembl:ENSG00000200463 HGNC:32952 OMIM:616663 SNORD118 small nucleolar RNA, C/D box 118 2p25.3 CGI-87 TTC-15 ClinVar:TRAPPC12 Ensembl:ENSG00000171853 Genatlas:TRAPPC12 HGNC:24284 OMIM:614139 Reactome:Q8WVT3 SwissProt:Q8WVT3 TRAPPC12 trafficking protein particle complex subunit 12 17q21.31 NOR-90 UBF UBF1 UBF2 ClinVar:UBTF Ensembl:ENSG00000108312 Genatlas:UBTF HGNC:12511 OMIM:600673 Reactome:P17480 SwissProt:P17480 UBTF upstream binding transcription factor 11q13.1 FGFIBP ClinVar:FIBP Ensembl:ENSG00000172500 Genatlas:FIBP HGNC:3705 OMIM:608296 Reactome:O43427 SwissProt:O43427 FIBP FGF1 intracellular binding protein Singh-Williams-McAlister syndrome Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested. Orphanet ICD-10:M89.5 ICD-11:FB86.2 OMIM:609655 UMLS:C4509954 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50809 Talo-patello-scaphoid osteolysis ORPHA:50809 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609655 E (Exact mapping: the two concepts are equivalent) UMLS:C4509954 E (Exact mapping: the two concepts are equivalent) Autosomal recessive childhood-onset dystonia, DYT29 type Childhood-onset generalized dystonia-optic atrophy syndrome DYT29 Dystonia 29 Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared. Orphanet ICD-10:E88.8 OMIM:617282 UMLS:C4310634 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508093 MEPAN syndrome ORPHA:508093 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617282 E (Exact mapping: the two concepts are equivalent) UMLS:C4310634 E (Exact mapping: the two concepts are equivalent) Basel-Vanagaite-Sirota syndrome Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Orphanet ICD-10:Q04.3 UMLS:C4509878 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50810 Microlissencephaly-micromelia syndrome ORPHA:50810 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509878 E (Exact mapping: the two concepts are equivalent) Lipodystrophy-intellectual disability-hearing loss syndrome Rajab-Spranger syndrome A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Orphanet ICD-10:Q78.8 ICD-11:LD2H.Y OMIM:608154 UMLS:C4302920 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50811 Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608154 E (Exact mapping: the two concepts are equivalent) UMLS:C4302920 E (Exact mapping: the two concepts are equivalent) Ahn-Lerman-Sagie syndrome A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. Orphanet ICD-10:Q87.8 ICD-11:5C53.2Y UMLS:C4305104 Autosomal recessive Mitochondrial inheritance Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50812 Zellweger-like syndrome without peroxisomal anomalies ORPHA:50812 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305104 E (Exact mapping: the two concepts are equivalent) Boyadjiev-Jabs syndrome Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Orphanet ICD-10:Q75.8 ICD-11:LB70.Y MeSH:C564332 OMIM:607812 UMLS:C1843042 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50814 Craniolenticulosutural dysplasia ORPHA:50814 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564332 E (Exact mapping: the two concepts are equivalent) OMIM:607812 E (Exact mapping: the two concepts are equivalent) UMLS:C1843042 E (Exact mapping: the two concepts are equivalent) Branchiogenic hearing loss syndrome Mégarbané-Loiselet syndrome Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent. Orphanet ICD-10:Q87.0 MeSH:C563780 OMIM:609166 UMLS:C1836673 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50815 Branchiogenic deafness syndrome ORPHA:50815 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563780 E (Exact mapping: the two concepts are equivalent) OMIM:609166 E (Exact mapping: the two concepts are equivalent) UMLS:C1836673 E (Exact mapping: the two concepts are equivalent) Roifman-Melamed syndrome SPENCDI Spondyloenchondrodysplasia with immune dysregulation This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloenchondrodysplasia UMLS:C1842763 Spondylometaphyseal dysplasia with combined immunodeficiency ORPHA:50816 UMLS:C1842763 E (Exact mapping: the two concepts are equivalent) Verloes-Deprez syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Horizontal gaze palsy with progressive scoliosis UMLS:C4302550 Duane anomaly-myopathy-scoliosis syndrome ORPHA:50817 UMLS:C4302550 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G56.0 NON RARE IN EUROPE: Carpal tunnel syndrome ORPHA:50838 ICD-10:G56.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Bartonellosis due to Bartonella henselae infection Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria <i>Bartonella henselae</i>, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy). Orphanet ICD-10:A28.1 ICD-11:1B98 MeSH:D002372 MedDRA:10007729 UMLS:C0007361 Not applicable All ages Europe AND has_point_prevalence_average_value : 6.6 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50839 Cat-scratch disease ORPHA:50839 ICD-10:A28.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B98 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002372 E (Exact mapping: the two concepts are equivalent) MedDRA:10007729 E (Exact mapping: the two concepts are equivalent) UMLS:C0007361 E (Exact mapping: the two concepts are equivalent) A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies. Orphanet ICD-10:Q43.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508410 Familial intestinal malrotation ORPHA:508410 ICD-10:Q43.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome Hyaluronidase 2 deficiency A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss. Orphanet ICD-10:Q87.8 UMLS:C5568767 Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568767 E (Exact mapping: the two concepts are equivalent) Del(8)(q24.3) Deletion 8q24.3 Monosomy 8q24.3 A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Orphanet ICD-10:Q93.5 OMIM:615583 UMLS:C3810023 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508488 8q24.3 microdeletion syndrome ORPHA:508488 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615583 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3810023 E (Exact mapping: the two concepts are equivalent) Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy. Orphanet ICD-10:Q87.8 OMIM:615583 UMLS:C5568572 Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615583 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5568572 E (Exact mapping: the two concepts are equivalent) OFD18 Oral-facial-digital syndrome type 18 Orofaciodigital syndrome type 18 A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. Orphanet ICD-10:Q87.0 OMIM:617927 UMLS:C5567903 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508501 Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617927 E (Exact mapping: the two concepts are equivalent) UMLS:C5567903 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. Orphanet ICD-10:Q87.1 OMIM:618097 UMLS:C5567901 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome ORPHA:508512 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618097 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5567901 E (Exact mapping: the two concepts are equivalent) Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid. Orphanet ICD-10:E70.1 OMIM:617384 UMLS:C5567900 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508523 Hyperphenylalaninemia due to DNAJC12 deficiency ORPHA:508523 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617384 E (Exact mapping: the two concepts are equivalent) UMLS:C5567900 E (Exact mapping: the two concepts are equivalent) Intermediate EBS with cardiomyopathy A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes. Orphanet ICD-10:Q81.0 OMIM:617294 UMLS:C5555869 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy ORPHA:508529 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617294 E (Exact mapping: the two concepts are equivalent) UMLS:C5555869 E (Exact mapping: the two concepts are equivalent) EXTL3-related neuro-immuno-skeletal dysplasia syndrome Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts. Orphanet ICD-10:Q87.8 OMIM:617425 UMLS:C5567899 Antenatal Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617425 E (Exact mapping: the two concepts are equivalent) UMLS:C5567899 E (Exact mapping: the two concepts are equivalent) MYSM1 deficiency A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging. Orphanet ICD-10:Q87.8 OMIM:618116 UMLS:C5567897 Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618116 E (Exact mapping: the two concepts are equivalent) UMLS:C5567897 E (Exact mapping: the two concepts are equivalent) 11q13.5 APHC FLJ11238 alkaline phytoceramidase ClinVar:ACER3 Ensembl:ENSG00000078124 Genatlas:ACER3 HGNC:16066 IUPHAR:2470 OMIM:617036 Reactome:Q9NUN7 SwissProt:Q9NUN7 ACER3 alkaline ceramidase 3 1q22 FLJ10504 LST005 MST misato ClinVar:MSTO1 Ensembl:ENSG00000125459 Genatlas:MSTO1 HGNC:29678 OMIM:617619 SwissProt:Q9BUK6 MSTO1 misato mitochondrial distribution and morphology regulator 1 9q31.2 DKFZP762N2316 KIAA1803 Zfp462 ClinVar:ZNF462 Ensembl:ENSG00000148143 Genatlas:ZNF462 HGNC:21684 OMIM:617371 Reactome:Q96JM2 SwissProt:Q96JM2 ZNF462 zinc finger protein 462 14q32.2 CTIP-2 CTIP2 SMARCM2 hRIT1-alpha ClinVar:BCL11B Ensembl:ENSG00000127152 Genatlas:BCL11B HGNC:13222 OMIM:606558 SwissProt:Q9C0K0 BCL11B BCL11 transcription factor B 18q12.1 CD325 CDHN N-cadherin ClinVar:CDH2 Ensembl:ENSG00000170558 Genatlas:CDH2 HGNC:1759 OMIM:114020 SwissProt:P19022 CDH2 cadherin 2 5q15-q21.1 ClinVar:CHD1 Ensembl:ENSG00000153922 Genatlas:CHD1 HGNC:1915 OMIM:602118 SwissProt:O14646 CHD1 chromodomain helicase DNA binding protein 1 An anthropozoonosis, rare in Europe, clinically characterized by an initial presentation of flu-like symptoms rapidly progressing into life-threatening multisystem failure (notably hepatonephritis) caused by spiral-shaped bacteria belonging to the genus <i>Leptospira</i>. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America. Orphanet ICD-10:A27.0 ICD-10:A27.8 ICD-10:A27.9 ICD-11:1B91 MeSH:D007922 MedDRA:10024238 UMLS:C0023364 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 1.13 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Denmark AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.92 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.52 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=509 Leptospirosis ORPHA:509 ICD-10:A27.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A27.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A27.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B91 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007922 E (Exact mapping: the two concepts are equivalent) MedDRA:10024238 E (Exact mapping: the two concepts are equivalent) UMLS:C0023364 E (Exact mapping: the two concepts are equivalent) 7q22.1 Tyro11 ClinVar:EPHB4 Ensembl:ENSG00000196411 Genatlas:EPHB4 HGNC:3395 IUPHAR:1833 OMIM:600011 SwissProt:P54760 EPHB4 EPH receptor B4 17q12 CD340 HER-2 HER2 MLN-19 NEU c-ERB-2 c-ERB2 human epidermal growth factor receptor 2 metastatic lymph node gene 19 neuro/glioblastoma derived oncogene homolog p185(erbB2) ClinVar:ERBB2 Ensembl:ENSG00000141736 Genatlas:ERBB2 HGNC:3430 IUPHAR:2019 OMIM:164870 SwissProt:P04626 ERBB2 erb-b2 receptor tyrosine kinase 2 6p21.32 Ensembl:ENSG00000231389 HGNC:4938 OMIM:142880 SwissProt:P20036 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 5q11.2 CD130 GP130 IL-6RB Interleukin-6 receptor subunit beta gp130, oncostatin M receptor membrane glycoprotein 130 sGP130 ClinVar:IL6ST Ensembl:ENSG00000134352 Genatlas:IL6ST HGNC:6021 IUPHAR:2317 OMIM:600694 SwissProt:P40189 IL6ST interleukin 6 cytokine family signal transducer 1p31.3 JAK1A JTK3 ClinVar:JAK1 Ensembl:ENSG00000162434 Genatlas:JAK1 HGNC:6190 IUPHAR:2047 OMIM:147795 SwissProt:P23458 JAK1 Janus kinase 1 19q13.12 CXXC10 HRX2 Histone-lysine N-methyltransferase 2B KIAA0304 MLL1B MLL2 MLL4 TRX2 WBP7 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4 ClinVar:KMT2B Ensembl:ENSG00000272333 Genatlas:KMT2B HGNC:15840 IUPHAR:2689 OMIM:606834 SwissProt:Q9UMN6 KMT2B lysine methyltransferase 2B 1p31.1 ClinVar:MSH4 Ensembl:ENSG00000057468 Genatlas:MSH4 HGNC:7327 OMIM:602105 SwissProt:O15457 MSH4 mutS homolog 4 2q31.2 NF-E2-related factor 2 NRF-2 NRF2 ClinVar:NFE2L2 Ensembl:ENSG00000116044 Genatlas:NFE2L2 HGNC:7782 IUPHAR:3057 OMIM:600492 SwissProt:Q16236 NFE2L2 NFE2 like bZIP transcription factor 2 Histiocytic necrotizing lymphadenitis Kikuchi disease A rare systemic disease characterized by subacute, necrotizing, regional lymphadenopathy with tenderness, usually accompanied with mild fever, night sweats, myalgia, leukopenia and anemia. Less frequent symptoms include weight loss, nausea, vomiting and sore throat. It is a self-limiting benign disease that usually recedes within six months, even without drug treatment. Orphanet ICD-10:I88.1 ICD-11:4B2Y MeSH:D020042 MedDRA:10069070 UMLS:C0398367 Adolescent Adult Childhood Infancy Martinique AND has_annual_incidence_average_value : 0.278 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 1052.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50918 Kikuchi-Fujimoto disease ORPHA:50918 ICD-10:I88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020042 E (Exact mapping: the two concepts are equivalent) MedDRA:10069070 E (Exact mapping: the two concepts are equivalent) UMLS:C0398367 E (Exact mapping: the two concepts are equivalent) 11p15.1 PI3K-C2alpha Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha ClinVar:PIK3C2A Ensembl:ENSG00000011405 Genatlas:PIK3C2A HGNC:8971 IUPHAR:2150 OMIM:603601 SwissProt:O00443 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha OBSOLETE: Mammary polyadenomatosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare benign breast tumor OBSOLETE: Multiple fibroadenoma of the breast ORPHA:50920 7q22.3 FLJ11785 RINT-1 ClinVar:RINT1 Ensembl:ENSG00000135249 Genatlas:RINT1 HGNC:21876 OMIM:610089 SwissProt:Q6NUQ1 RINT1 RAD50 interactor 1 6p25.2 RIP RIP-1 RIP1 receptor-interacting protein kinase 1 ClinVar:RIPK1 Ensembl:ENSG00000137275 Genatlas:RIPK1 HGNC:10019 IUPHAR:2189 OMIM:603453 SwissProt:Q13546 RIPK1 receptor interacting serine/threonine kinase 1 1q25.3 BAP-1 BAP1 DING HIPI3 RING1B RING2 ClinVar:RNF2 Ensembl:ENSG00000121481 Genatlas:RNF2 HGNC:10061 OMIM:608985 SwissProt:Q99496 RNF2 ring finger protein 2 16p13.13 Cish1 JAB SOCS-1 SSI-1 TIP3 ClinVar:SOCS1 Ensembl:ENSG00000185338 Genatlas:SOCS1 HGNC:19383 OMIM:603597 SwissProt:O15524 SOCS1 suppressor of cytokine signaling 1 1p36.21-p36.13 KIAA0929 MINT RBM15C SHARP ClinVar:SPEN Ensembl:ENSG00000065526 Genatlas:SPEN HGNC:17575 OMIM:613484 SwissProt:Q96T58 SPEN spen family transcriptional repressor 17q21.33 BTBD32 TEF2 ClinVar:SPOP Ensembl:ENSG00000121067 Genatlas:SPOP HGNC:11254 OMIM:602650 SwissProt:O43791 SPOP speckle type BTB/POZ protein 16p13.3 DKFZp586I021 MGC7807 RNF119 ClinVar:TRAF7 Ensembl:ENSG00000131653 Genatlas:TRAF7 HGNC:20456 OMIM:606692 SwissProt:Q6Q0C0 TRAF7 TNF receptor associated factor 7 7q22.1 PAF400 TR-AP Tra1 ClinVar:TRRAP Ensembl:ENSG00000196367 Genatlas:TRRAP HGNC:12347 IUPHAR:2256 OMIM:603015 SwissProt:Q9Y4A5 TRRAP transformation/transcription domain associated protein 22q12.1 BK747E2.3 FLJ22057 KIAA1133 RNF203 ClinVar:ZNRF3 Ensembl:ENSG00000183579 Genatlas:ZNRF3 HGNC:18126 OMIM:612062 SwissProt:Q9ULT6 ZNRF3 zinc and ring finger 3 Keratosis palmoplantaris striata Keratosis palmoplantaris striata et areata Keratosis palmoplantaris varians of Wachters Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. Orphanet ICD-10:Q82.8 ICD-11:EC20.31 OMIM:148700 OMIM:607654 OMIM:612908 UMLS:C4707237 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50942 Striate palmoplantar keratoderma ORPHA:50942 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:148700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:607654 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612908 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707237 E (Exact mapping: the two concepts are equivalent) Erythrokeratolysis hiemalis Oudtshoorn disease Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. Orphanet ICD-10:L30.8 ICD-11:EC20.30 MeSH:C536155 OMIM:148370 UMLS:C0406756 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50943 Keratolytic winter erythema ORPHA:50943 ICD-10:L30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536155 E (Exact mapping: the two concepts are equivalent) OMIM:148370 E (Exact mapping: the two concepts are equivalent) UMLS:C0406756 E (Exact mapping: the two concepts are equivalent) Eccrine tumors-ectodermal dysplasia Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome SSPS Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:C565607 OMIM:224750 UMLS:C1857069 Autosomal dominant Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50944 Schöpf-Schulz-Passarge syndrome ORPHA:50944 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565607 E (Exact mapping: the two concepts are equivalent) OMIM:224750 E (Exact mapping: the two concepts are equivalent) UMLS:C1857069 E (Exact mapping: the two concepts are equivalent) BLC BOCD Blomstrand chondrodysplasia Blomstrand osteochondrodysplasia Chondrodysplasia, Blomstrand type Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. Orphanet ICD-10:Q78.8 ICD-11:LD24.1Y MeSH:C537914 OMIM:215045 UMLS:C1859148 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=50945 Blomstrand lethal chondrodysplasia ORPHA:50945 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537914 E (Exact mapping: the two concepts are equivalent) OMIM:215045 E (Exact mapping: the two concepts are equivalent) UMLS:C1859148 E (Exact mapping: the two concepts are equivalent) Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid A rare inherited subacute encephalopathy characterized by the variable association of basal ganglia calcification, leukodystrophy, cerebrospinal fluid (CSF) lymphocytosis and evidence of enhanced type I interferon signaling in blood and CSF. Orphanet ICD-10:G31.8 ICD-11:5C55.2 MeSH:C535607 MedDRA:10083189 OMIM:225750 OMIM:610181 OMIM:610329 OMIM:610333 OMIM:612952 OMIM:615010 OMIM:615846 OMIM:619486 OMIM:619487 UMLS:C0393591 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51 Aicardi-Goutières syndrome ORPHA:51 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535607 E (Exact mapping: the two concepts are equivalent) MedDRA:10083189 E (Exact mapping: the two concepts are equivalent) OMIM:225750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610181 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610329 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610333 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612952 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615010 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615846 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619486 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619487 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0393591 E (Exact mapping: the two concepts are equivalent) HPRT complete deficiency HPRT deficiency grade IV Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. Orphanet ICD-10:E79.1 ICD-11:5C55.01 MeSH:D007926 MedDRA:10057589 OMIM:300322 OMIM:308950 UMLS:C0023374 X-linked recessive Infancy Canada AND has_birth_prevalence_average_value : 0.18 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.42 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.18 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=510 Lesch-Nyhan syndrome ORPHA:510 ICD-10:E79.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C55.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007926 E (Exact mapping: the two concepts are equivalent) MedDRA:10057589 E (Exact mapping: the two concepts are equivalent) OMIM:300322 E (Exact mapping: the two concepts are equivalent) OMIM:308950 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C0023374 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial atypical multiple mole melanoma syndrome OBSOLETE: Melanoma-pancreatic cancer syndrome ORPHA:51013 12q24.31 ClinVar:VPS33A Ensembl:ENSG00000139719 Genatlas:VPS33A HGNC:18179 OMIM:610034 SwissProt:Q96AX1 VPS33A VPS33A core subunit of CORVET and HOPS complexes 5q12.3 NY-CO-10 SDCCAG-10 Ensembl:ENSG00000153015 HGNC:10664 OMIM:617170 SwissProt:Q6UX04 CWC27 CWC27 spliceosome associated cyclophilin 4p13 GAC63 GRIP1-dependent nuclear receptor coactivator HUEL ZNT9 ClinVar:SLC30A9 Ensembl:ENSG00000014824 Genatlas:SLC30A9 HGNC:1329 IUPHAR:1129 OMIM:604604 SwissProt:Q6PML9 SLC30A9 solute carrier family 30 member 9 2p23.3 KIAA1724 SELI SEPI Ensembl:ENSG00000138018 HGNC:29361 OMIM:607915 Reactome:Q9C0D9 SwissProt:Q9C0D9 SELENOI selenoprotein I 3p22.1 KIAA1042 MILT1 O-linked N-acetylglucosamine transferase interacting protein 106 OGT(O Glc NAc transferase) interacting protein 106 KDa OIP106 milton homolog 1 (Drosophila) ClinVar:TRAK1 Ensembl:ENSG00000182606 Genatlas:TRAK1 HGNC:29947 OMIM:608112 Reactome:Q9UPV9 SwissProt:Q9UPV9 TRAK1 trafficking kinesin protein 1 8q21.3 CGI-77 DUBA5 ClinVar:OTUD6B Ensembl:ENSG00000155100 Genatlas:OTUD6B HGNC:24281 OMIM:612021 SwissProt:Q8N6M0 OTUD6B OTU deubiquitinase 6B 16p11.2 LAT1 linker for activation of T cells, transmembrane adaptor ClinVar:LAT Ensembl:ENSG00000213658 Genatlas:LAT HGNC:18874 OMIM:602354 Reactome:O43561 SwissProt:O43561 LAT linker for activation of T cells 2q11.2 MLLT2-like Ensembl:ENSG00000144218 HGNC:6473 OMIM:601464 SwissProt:P51826 AFF3 ALF transcription elongation factor 3 SQTS A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia. Orphanet ICD-10:I49.8 ICD-11:BC65.2 OMIM:609620 OMIM:609621 OMIM:609622 OMIM:620231 Autosomal dominant All ages Worldwide AND has_cases/families_value : 80.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51083 Familial short QT syndrome ORPHA:51083 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:609620 E (Exact mapping: the two concepts are equivalent) OMIM:609621 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609622 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620231 BTNT (ORPHAcode is broader than the targeted code used to represent it) A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. Orphanet ICD-10:I49.8 ICD-11:BC71.01 OMIM:613600 UMLS:C3150851 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51084 Torsade-de-pointes syndrome with short coupling interval ORPHA:51084 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613600 E (Exact mapping: the two concepts are equivalent) UMLS:C3150851 E (Exact mapping: the two concepts are equivalent) 19p13.3 CDC20 homolog 1 CDC20C CDH1 FZR FZR2 HCDH HCDH1 KIAA1242 Ensembl:ENSG00000105325 HGNC:24824 OMIM:603619 SwissProt:Q9UM11 FZR1 fizzy and cell division cycle 20 related 1 1q32.2 CR CROM TC Ensembl:ENSG00000196352 HGNC:2665 IUPHAR:3246 OMIM:125240 SwissProt:P08174 CD55 CD55 molecule (Cromer blood group) BCKD deficiency BCKDH deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria MSUD A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD. Orphanet ICD-10:E71.0 ICD-11:5C50.D0 MeSH:D008375 MedDRA:10026817 OMIM:248600 OMIM:615135 OMIM:620698 OMIM:620699 UMLS:C0024776 Autosomal recessive Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.396 AND has_point_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.79 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.15 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.86 AND has_birth_prevalence_range : 1-9 / 1 000 000 Tunisia AND has_birth_prevalence_average_value : 7.3 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.78 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=511 Maple syrup urine disease ORPHA:511 ICD-10:E71.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C50.D0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008375 E (Exact mapping: the two concepts are equivalent) MedDRA:10026817 E (Exact mapping: the two concepts are equivalent) OMIM:248600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615135 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620698 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620699 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024776 E (Exact mapping: the two concepts are equivalent) A rare, early-onset, progressive neurologic disease characterized by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. Orphanet ICD-10:E88.8 ICD-11:5C50.E1 MeSH:C535737 OMIM:602473 UMLS:C1865349 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51188 Ethylmalonic encephalopathy ORPHA:51188 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535737 E (Exact mapping: the two concepts are equivalent) OMIM:602473 E (Exact mapping: the two concepts are equivalent) UMLS:C1865349 E (Exact mapping: the two concepts are equivalent) Arylsulfatase A deficiency MLD A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive. Orphanet ICD-10:E75.2 ICD-11:5C56.02 MeSH:D007966 MedDRA:10067609 OMIM:156310 OMIM:249900 OMIM:250100 UMLS:C0023522 Autosomal recessive Adolescent Adult Childhood Infancy Australia AND has_birth_prevalence_average_value : 1.09 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 0.69 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.47 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 1.42 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.85 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 1.73 AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 1.43 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=512 Metachromatic leukodystrophy ORPHA:512 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007966 E (Exact mapping: the two concepts are equivalent) MedDRA:10067609 E (Exact mapping: the two concepts are equivalent) OMIM:156310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:249900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:250100 E (Exact mapping: the two concepts are equivalent) UMLS:C0023522 E (Exact mapping: the two concepts are equivalent) CLPD-NK CNKL Chronic NK lymphocytosis Chronic NK-cell lymphocytosis Chronic lymphoproliferative disorder of NK-cells NK-cell lineage granular lymphocyte proliferative disorder A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly. Orphanet ICD-10:C91.7 ICD-11:2A90.2 UMLS:C1512709 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=512017 Chronic lymphoproliferative disorder of natural killer cells ORPHA:512017 ICD-10:C91.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A90.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1512709 E (Exact mapping: the two concepts are equivalent) MeSH:D054066 UMLS:C1522378 United States AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=512034 Large granular lymphocyte leukemia Clinical group ORPHA:512034 MeSH:D054066 E (Exact mapping: the two concepts are equivalent) UMLS:C1522378 E (Exact mapping: the two concepts are equivalent) FTCD deficiency Formiminotransferase cyclodeaminase deficiency Glutamate formiminotransferase deficiency A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated. Orphanet ICD-10:E70.8 ICD-11:3A02.Y MeSH:C537425 OMIM:229100 UMLS:C0268609 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51208 Formiminoglutamic aciduria ORPHA:51208 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537425 E (Exact mapping: the two concepts are equivalent) OMIM:229100 E (Exact mapping: the two concepts are equivalent) UMLS:C0268609 E (Exact mapping: the two concepts are equivalent) AREI A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure. Orphanet ICD-10:Q80.8 ICD-11:EC20.03 UMLS:C5437635 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=512103 Autosomal recessive epidermolytic ichthyosis ORPHA:512103 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437635 E (Exact mapping: the two concepts are equivalent) A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. Orphanet ICD-10:G11.0 OMIM:620208 UMLS:C5567894 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=512260 Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620208 E (Exact mapping: the two concepts are equivalent) UMLS:C5567894 E (Exact mapping: the two concepts are equivalent) 6p21.1 CAG4A ClinVar:CNPY3 Ensembl:ENSG00000137161 Genatlas:CNPY3 HGNC:11968 OMIM:610774 Reactome:Q9BT09 SwissProt:Q9BT09 CNPY3 canopy FGF signaling regulator 3 14q24.3 2-oxoglutarate dehydrogenase complex component E2 Dihydrolipoyllysine-residue succinyltransferase KGD2 OGDC-E2 Ensembl:ENSG00000119689 HGNC:2911 OMIM:126063 SwissProt:P36957 DLST dihydrolipoamide S-succinyltransferase 19p13.3 Ensembl:ENSG00000099624 HGNC:837 IUPHAR:799 OMIM:603150 SwissProt:P30049 ATP5F1D ATP synthase F1 subunit delta 14q24.2 HSPC203 Ensembl:ENSG00000133983 HGNC:20213 OMIM:618064 SwissProt:Q9P0S2 COX16 cytochrome c oxidase assembly factor COX16 10p12.1 YME1L Ensembl:ENSG00000136758 HGNC:12843 OMIM:607472 SwissProt:Q96TA2 YME1L1 YME1 like 1 ATPase ALL Acute lymphoblastic leukemia/lymphoma Acute lymphocytic leukemia Precursor lymphoid neoplasm A rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia. Orphanet ICD-10:C91.0 MeSH:D054198 OMIM:247640 OMIM:613065 OMIM:613067 UMLS:C1961102 All ages Europe AND has_annual_incidence_average_value : 2.75 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_lifetime_prevalence_average_value : 22.0 AND has_lifetime_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=513 Acute lymphoblastic leukemia Clinical group ORPHA:513 ICD-10:C91.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054198 E (Exact mapping: the two concepts are equivalent) OMIM:247640 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613065 E (Exact mapping: the two concepts are equivalent) OMIM:613067 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1961102 E (Exact mapping: the two concepts are equivalent) 7p15.3 HGFIN NMB glycoprotein NMB glycoprotein nmb-like protein glycoprotein nonmetastatic melanoma protein B hematopoietic growth factor inducible neurokinin-1 osteoactivin transmembrane glycoprotein ClinVar:GPNMB Ensembl:ENSG00000136235 Genatlas:GPNMB HGNC:4462 OMIM:604368 Reactome:Q14956 SwissProt:Q14956 GPNMB glycoprotein nmb Xq24 FLJ22965 ClinVar:CXorf56 Ensembl:ENSG00000018610 Genatlas:CXorf56 HGNC:26239 OMIM:301012 Reactome:Q9H5V9 SwissProt:Q9H5V9 STEEP1 STING1 ER exit protein 1 SPG78 A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. Orphanet ICD-10:G11.4 OMIM:617225 UMLS:C5567893 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=513436 Autosomal recessive spastic paraplegia type 78 ORPHA:513436 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617225 E (Exact mapping: the two concepts are equivalent) UMLS:C5567893 E (Exact mapping: the two concepts are equivalent) Skraban-Deardorff syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles. Orphanet ICD-10:Q87.0 OMIM:617616 UMLS:C4539927 Infancy Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome ORPHA:513456 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617616 E (Exact mapping: the two concepts are equivalent) UMLS:C4539927 E (Exact mapping: the two concepts are equivalent) 17p13.2 OGC ClinVar:SLC25A11 Ensembl:ENSG00000108528 Genatlas:SLC25A11 HGNC:10981 IUPHAR:1053 OMIM:604165 Reactome:Q02978 SwissProt:Q02978 SLC25A11 solute carrier family 25 member 11 1p36.22 FLJ20321 SRG ZNF693 castor cst survival related gene zinc finger protein 693 Ensembl:ENSG00000130940 HGNC:26002 OMIM:609895 SwissProt:Q86V15 CASZ1 castor zinc finger 1 17q25.1 HFH-4 HFH4 Ensembl:ENSG00000129654 HGNC:3816 OMIM:602291 Reactome:Q92949 SwissProt:Q92949 FOXJ1 forkhead box J1 AML M5 Acute monoblastic or monocytic leukemia A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11). Orphanet ICD-10:C92.7 ICD-11:2A60.34 MeSH:D007948 UMLS:C3831784 Not applicable Childhood Europe AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=514 Acute monoblastic/monocytic leukemia ORPHA:514 ICD-10:C92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.34 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007948 E (Exact mapping: the two concepts are equivalent) UMLS:C3831784 E (Exact mapping: the two concepts are equivalent) 6p22.3 Ensembl:ENSG00000008083 HGNC:6196 OMIM:601594 SwissProt:Q92833 JARID2 jumonji and AT-rich interaction domain containing 2 2p22.3 TGF-beta1-BP-1 Transforming growth factor beta-1-binding protein 1 Ensembl:ENSG00000049323 HGNC:6714 OMIM:150390 SwissProt:Q14766 LTBP1 latent transforming growth factor beta binding protein 1 3q22.3 M-RAs R-RAS3 RRAS3 Ensembl:ENSG00000158186 HGNC:7227 OMIM:608435 SwissProt:O14807 MRAS muscle RAS oncogene homolog 11q25 CAP-D3 FLJ42888 KIAA0056 hCAP-D3 hHCP-6 hcp-6 Ensembl:ENSG00000151503 HGNC:28952 OMIM:609276 SwissProt:P42695 NCAPD3 non-SMC condensin II complex subunit D3 3p22.3 LIN-41 LIN41 Ensembl:ENSG00000206557 HGNC:32669 OMIM:618570 SwissProt:Q2Q1W2 TRIM71 tripartite motif containing 71 Serpentine-like syndrome A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. Orphanet ICD-10:Q87.8 UMLS:C5680208 Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome ORPHA:514352 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680208 E (Exact mapping: the two concepts are equivalent) 5q35.1 ERGIC-32 ERGIC32 KIAA1181 NET24 ClinVar:ERGIC1 Ensembl:ENSG00000113719 Genatlas:ERGIC1 HGNC:29205 OMIM:617946 Reactome:Q969X5 SwissProt:Q969X5 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 11q13.1 BAF45d SMARCG2 ubi-d4 ClinVar:DPF2 Ensembl:ENSG00000133884 Genatlas:DPF2 HGNC:9964 OMIM:601671 Reactome:Q92785 SwissProt:Q92785 DPF2 double PHD fingers 2 12q24.13 2'-5' oligoadenylate synthase 1 IFI-4 OIASI ClinVar:OAS1 Ensembl:ENSG00000089127 Genatlas:OAS1 HGNC:8086 OMIM:164350 Reactome:P00973 SwissProt:P00973 OAS1 2'-5'-oligoadenylate synthetase 1 11q22.1 DNAAF17 FBB5 MGC13040 dynein axonemal assembly factor 17 ClinVar:CFAP300 Ensembl:ENSG00000137691 Genatlas:CFAP300 HGNC:28188 OMIM:618058 SwissProt:Q9BRQ4 CFAP300 cilia and flagella associated protein 300 7q34 FLJ16107 WEE1B ClinVar:WEE2 Ensembl:ENSG00000214102 Genatlas:WEE2 HGNC:19684 IUPHAR:2279 OMIM:614084 SwissProt:P0C1S8 WEE2 WEE2 oocyte meiosis inhibiting kinase UMLS:C5681397 Adolescent Childhood Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=514980 ATP13A2-related parkinsonism Clinical group ORPHA:514980 UMLS:C5681397 E (Exact mapping: the two concepts are equivalent) Lissencephaly type 2 A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent. Orphanet ICD-11:LD20.1 MeSH:D054222 UMLS:C0431376 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51577 Cobblestone lissencephaly Clinical group ORPHA:51577 ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054222 E (Exact mapping: the two concepts are equivalent) UMLS:C0431376 E (Exact mapping: the two concepts are equivalent) Idiopathic infantile arterial calcification Idiopathic obliterative arteriopathy Infantile arteriosclerosis Occlusive infantile arteriopathy A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension. Orphanet ICD-10:Q28.8 ICD-11:BD52 MeSH:C537440 OMIM:208000 OMIM:614473 UMLS:C1859727 Autosomal dominant Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51608 Generalized arterial calcification of infancy ORPHA:51608 ICD-10:Q28.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:BD52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537440 E (Exact mapping: the two concepts are equivalent) OMIM:208000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614473 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1859727 E (Exact mapping: the two concepts are equivalent) WILM Warts-hypogammaglobulinemia-infections-myelokathexis syndrome Warts-infections-leukopenia-myelokatexis syndrome WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). Orphanet ICD-10:D81.8 ICD-11:4A00.Y MeSH:C536697 OMIM:193670 UMLS:C0472817 Autosomal dominant Autosomal recessive Not applicable Adolescent Adult Childhood France AND has_birth_prevalence_average_value : 0.023 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 65.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51636 WHIM syndrome ORPHA:51636 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536697 E (Exact mapping: the two concepts are equivalent) OMIM:193670 E (Exact mapping: the two concepts are equivalent) UMLS:C0472817 E (Exact mapping: the two concepts are equivalent) AML M4 AMMoL A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated. Orphanet ICD-10:C92.5 ICD-11:2A60.33 MeSH:D015479 MedDRA:10000890 UMLS:C0023479 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=517 Acute myelomonocytic leukemia ORPHA:517 ICD-10:C92.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A60.33 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015479 E (Exact mapping: the two concepts are equivalent) MedDRA:10000890 E (Exact mapping: the two concepts are equivalent) UMLS:C0023479 E (Exact mapping: the two concepts are equivalent) 15q12 GABA(A) receptor, alpha 5 ClinVar:GABRA5 Ensembl:ENSG00000186297 Genatlas:GABRA5 HGNC:4079 IUPHAR:408 OMIM:137142 Reactome:P31644 SwissProt:P31644 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 14q32.2 ATP-AMP transphosphorylase 7 CFAP75 FAP75 FLJ32864 ClinVar:AK7 Ensembl:ENSG00000140057 Genatlas:AK7 HGNC:20091 OMIM:615364 Reactome:Q96M32 SwissProt:Q96M32 AK7 adenylate kinase 7 10q23.31 FLJ14600 Msp1 Outer mitochondrial transmembrane helix translocase thorase ClinVar:ATAD1 Ensembl:ENSG00000138138 Genatlas:ATAD1 HGNC:25903 OMIM:614452 SwissProt:Q8NBU5 ATAD1 ATPase family AAA domain containing 1 8p12 CT42 cancer/testis antigen 42 ClinVar:TEX15 Ensembl:ENSG00000133863 Genatlas:TEX15 HGNC:11738 OMIM:605795 Reactome:Q9BXT5 SwissProt:Q9BXT5 TEX15 testis expressed 15, meiosis and synapsis associated 5q33.3 PIR121 p53 inducible protein ClinVar:CYFIP2 Ensembl:ENSG00000055163 Genatlas:CYFIP2 HGNC:13760 OMIM:606323 Reactome:Q96F07 SwissProt:Q96F07 CYFIP2 cytoplasmic FMR1 interacting protein 2 8q23.1 MGC35555 ClinVar:RSPO2 Ensembl:ENSG00000147655 Genatlas:RSPO2 HGNC:28583 OMIM:610575 Reactome:Q6UXX9 SwissProt:Q6UXX9 RSPO2 R-spondin 2 8p21.1 REG receptor REGR botv glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase ClinVar:EXTL3 Ensembl:ENSG00000012232 Genatlas:EXTL3 HGNC:3518 OMIM:605744 Reactome:O43909 SwissProt:O43909 EXTL3 exostosin like glycosyltransferase 3 3p21.31 LUCA2 LuCa-2 PH-20 homolog lysosomal hyaluronidase ClinVar:HYAL2 Ensembl:ENSG00000068001 Genatlas:HYAL2 HGNC:5321 OMIM:603551 Reactome:Q12891 SwissProt:Q12891 HYAL2 hyaluronidase 2 16p13.13 BLAP18 MGC24665 ClinVar:RMI2 Ensembl:ENSG00000175643 Genatlas:RMI2 HGNC:28349 OMIM:612426 Reactome:Q96E14 SwissProt:Q96E14 RMI2 RecQ mediated genome instability 2 10q21.3 J domain protein 1 JDP1 ClinVar:DNAJC12 Ensembl:ENSG00000108176 Genatlas:DNAJC12 HGNC:28908 OMIM:606060 SwissProt:Q9UKB3 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 3q27.1 DRE1 FLJ20059 KRIP6 ClinVar:KLHL24 Ensembl:ENSG00000114796 Genatlas:KLHL24 HGNC:25947 OMIM:611295 Reactome:Q6TFL4 SwissProt:Q6TFL4 KLHL24 kelch like family member 24 22q13.2 RNA, U12 small nuclear 1 RNU12-1 Ensembl:ENSG00000276027 HGNC:19380 OMIM:620204 RNU12 RNA, U12 small nuclear 1q42.11-q42.12 FLJ21016 GID complex subunit 7 homolog (S. cerevisiae) GID7 ClinVar:WDR26 Ensembl:ENSG00000162923 Genatlas:WDR26 HGNC:21208 OMIM:617424 Reactome:Q9H7D7 SwissProt:Q9H7D7 WDR26 WD repeat domain 26 AMKL AML M7 Acute megakaryocytic leukemia Acute myeloid leukemia M7 A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. Orphanet ICD-10:C94.2 ICD-11:2A60.36 ICD-11:XH4750 MeSH:D007947 MedDRA:10000860 UMLS:C0023462 Not applicable Adult Childhood Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=518 Acute megakaryoblastic leukemia ORPHA:518 ICD-10:C94.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.36 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH4750 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007947 E (Exact mapping: the two concepts are equivalent) MedDRA:10000860 E (Exact mapping: the two concepts are equivalent) UMLS:C0023462 E (Exact mapping: the two concepts are equivalent) 7q21.13 FAP69 FLJ21062 flagellar protein 69 homolog (Chlamydomonas) hypothetical protein FLJ21062 ClinVar:CFAP69 Ensembl:ENSG00000105792 Genatlas:CFAP69 HGNC:26107 OMIM:617949 SwissProt:A5D8W1 CFAP69 cilia and flagella associated protein 69 ACNES Intercostal nerve syndrome Rectus abdominis syndrome A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome. Orphanet ICD-10:G58.0 ICD-11:8E43.Y UMLS:C0393899 Not applicable All ages Netherlands AND has_annual_incidence_average_value : 55.6 AND has_annual_incidence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=51890 Anterior cutaneous nerve entrapment syndrome ORPHA:51890 ICD-10:G58.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E43.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0393899 E (Exact mapping: the two concepts are equivalent) AML Acute myelogenous leukemia A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections. Orphanet ICD-10:C92.0 ICD-11:2A60 MeSH:D015470 MedDRA:10000880 OMIM:601626 UMLS:C0023467 All ages Denmark AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 3.39 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 10.98 AND has_lifetime_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 4.4 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 3.7 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519 Acute myeloid leukemia Clinical group ORPHA:519 ICD-10:C92.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015470 E (Exact mapping: the two concepts are equivalent) MedDRA:10000880 E (Exact mapping: the two concepts are equivalent) OMIM:601626 E (Exact mapping: the two concepts are equivalent) UMLS:C0023467 E (Exact mapping: the two concepts are equivalent) UMLS:C5681386 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519264 Inflammatory/autoimmune disorder involving the lacrimal system Category ORPHA:519264 UMLS:C5681386 E (Exact mapping: the two concepts are equivalent) UMLS:C5681387 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519266 Rare disorder of the ocular adnexa Category ORPHA:519266 UMLS:C5681387 E (Exact mapping: the two concepts are equivalent) UMLS:C5681384 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519268 Rare disorder with ectropion Category ORPHA:519268 UMLS:C5681384 E (Exact mapping: the two concepts are equivalent) UMLS:C5681385 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519270 Rare disorder with entropion Category ORPHA:519270 UMLS:C5681385 E (Exact mapping: the two concepts are equivalent) UMLS:C5681382 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519272 Structural developmental eye defect Category ORPHA:519272 UMLS:C5681382 E (Exact mapping: the two concepts are equivalent) UMLS:C5681383 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519274 Syndromic lacrimal system disorder Category ORPHA:519274 UMLS:C5681383 E (Exact mapping: the two concepts are equivalent) UMLS:C5681394 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519276 Anterior segment developmental abnormality with extraocular manifestations Category ORPHA:519276 UMLS:C5681394 E (Exact mapping: the two concepts are equivalent) MedDRA:10076672 UMLS:C3898765 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519278 Infective keratitis Category ORPHA:519278 MedDRA:10076672 E (Exact mapping: the two concepts are equivalent) UMLS:C3898765 E (Exact mapping: the two concepts are equivalent) UMLS:C5681392 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519280 Rare conjunctivitis Category ORPHA:519280 UMLS:C5681392 E (Exact mapping: the two concepts are equivalent) UMLS:C5681393 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519282 Rare corneal disorder Category ORPHA:519282 UMLS:C5681393 E (Exact mapping: the two concepts are equivalent) UMLS:C5681390 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519284 Rare disorder of the anterior segment of the eye Category ORPHA:519284 UMLS:C5681390 E (Exact mapping: the two concepts are equivalent) UMLS:C5681391 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519286 Rare disorder of the pupil Category ORPHA:519286 UMLS:C5681391 E (Exact mapping: the two concepts are equivalent) UMLS:C5681388 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519288 Rare disorder with corneal involvement as a major feature Category ORPHA:519288 UMLS:C5681388 E (Exact mapping: the two concepts are equivalent) UMLS:C5681389 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519290 Rare inflammatory/autoimmune corneal disorder Category ORPHA:519290 UMLS:C5681389 E (Exact mapping: the two concepts are equivalent) UMLS:C5681372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519292 Syndromic ectopia lentis Category ORPHA:519292 UMLS:C5681372 E (Exact mapping: the two concepts are equivalent) UMLS:C5681371 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519294 Syndromic microspherophakia Category ORPHA:519294 UMLS:C5681371 E (Exact mapping: the two concepts are equivalent) UMLS:C5681370 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519296 Rare disorder with pigmented sclera Category ORPHA:519296 UMLS:C5681370 E (Exact mapping: the two concepts are equivalent) UMLS:C5681369 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519298 Rare scleral disorder Category ORPHA:519298 UMLS:C5681369 E (Exact mapping: the two concepts are equivalent) UMLS:C5681368 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519300 Isolated chorioretinal dystrophy Category ORPHA:519300 UMLS:C5681368 E (Exact mapping: the two concepts are equivalent) UMLS:C5681367 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519302 Isolated macular dystrophy Category ORPHA:519302 UMLS:C5681367 E (Exact mapping: the two concepts are equivalent) UMLS:C5681366 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519304 Isolated vitreoretinopathy Category ORPHA:519304 UMLS:C5681366 E (Exact mapping: the two concepts are equivalent) UMLS:C5681364 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519306 Isolated progressive inherited retinal disorder Category ORPHA:519306 UMLS:C5681364 E (Exact mapping: the two concepts are equivalent) UMLS:C5681381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519309 Rare choroidal disorder Category ORPHA:519309 UMLS:C5681381 E (Exact mapping: the two concepts are equivalent) UMLS:C5681380 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519311 Rare disorder of the posterior segment of the eye Category ORPHA:519311 UMLS:C5681380 E (Exact mapping: the two concepts are equivalent) UMLS:C5681379 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519313 Rare macular disorder Category ORPHA:519313 UMLS:C5681379 E (Exact mapping: the two concepts are equivalent) UMLS:C5681377 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519315 Rare retinal disorder Category ORPHA:519315 UMLS:C5681377 E (Exact mapping: the two concepts are equivalent) UMLS:C5681376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519317 Rare retinal vasculopathy Category ORPHA:519317 UMLS:C5681376 E (Exact mapping: the two concepts are equivalent) UMLS:C5681375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519319 Isolated stationary inherited retinal disorder Category ORPHA:519319 UMLS:C5681375 E (Exact mapping: the two concepts are equivalent) UMLS:C5681374 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519321 Syndromic chorioretinal dystrophy Category ORPHA:519321 UMLS:C5681374 E (Exact mapping: the two concepts are equivalent) UMLS:C5681373 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519323 Syndromic macular dystrophy Category ORPHA:519323 UMLS:C5681373 E (Exact mapping: the two concepts are equivalent) Syndromic retinal dystrophy UMLS:C5680175 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519325 Syndromic inherited retinal disorder Category ORPHA:519325 UMLS:C5680175 E (Exact mapping: the two concepts are equivalent) UMLS:C5681351 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519327 Syndromic vitreoretinopathy Category ORPHA:519327 UMLS:C5681351 E (Exact mapping: the two concepts are equivalent) UMLS:C5681352 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519329 Rare disorder involving multiple structures of the eye Category ORPHA:519329 UMLS:C5681352 E (Exact mapping: the two concepts are equivalent) UMLS:C5681353 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519331 Secondary early-onset glaucoma Category ORPHA:519331 UMLS:C5681353 E (Exact mapping: the two concepts are equivalent) UMLS:C5681348 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519333 Congenital optic disc excavation Category ORPHA:519333 UMLS:C5681348 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune/inflammatory optic neuropathy OBSOLETE: Inflammatory/autoimmune optic neuropathy ORPHA:519335 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519337 Disorder with optic nerve compression Category ORPHA:519337 MeSH:C562401 MedDRA:10037141 UMLS:C0155300 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519339 Pseudopapilledema Category ORPHA:519339 MeSH:C562401 E (Exact mapping: the two concepts are equivalent) MedDRA:10037141 E (Exact mapping: the two concepts are equivalent) UMLS:C0155300 E (Exact mapping: the two concepts are equivalent) UMLS:C5681359 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature Category ORPHA:519341 UMLS:C5681359 E (Exact mapping: the two concepts are equivalent) UMLS:C5681360 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519343 Rare ophthalmic disorder with cortical involvement Category ORPHA:519343 UMLS:C5681360 E (Exact mapping: the two concepts are equivalent) UMLS:C5681361 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519345 Rare disorder with optic disc malformation Category ORPHA:519345 UMLS:C5681361 E (Exact mapping: the two concepts are equivalent) UMLS:C5681363 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519347 Rare neuromuscular disorder with ocular motility/alignment anomaly Category ORPHA:519347 UMLS:C5681363 E (Exact mapping: the two concepts are equivalent) UMLS:C5681354 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519349 Rare ophthalmic disorder with cranial nerve involvement Category ORPHA:519349 UMLS:C5681354 E (Exact mapping: the two concepts are equivalent) UMLS:C5681355 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519351 Rare optic nerve disorder Category ORPHA:519351 UMLS:C5681355 E (Exact mapping: the two concepts are equivalent) UMLS:C5681356 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519353 Rare trochlear nerve disorder Category ORPHA:519353 UMLS:C5681356 E (Exact mapping: the two concepts are equivalent) UMLS:C5681357 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519355 Rare ocular motility/alignment disorder Category ORPHA:519355 UMLS:C5681357 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with optic disc malformation OBSOLETE: Syndromic malformation of the optic disc ORPHA:519357 Congenital anophthalmos with cyst A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations. Orphanet ICD-10:Q11.0 ICD-11:LA10.Y UMLS:C5680174 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519384 Congenital cystic eye ORPHA:519384 ICD-10:Q11.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680174 E (Exact mapping: the two concepts are equivalent) A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge. Orphanet ICD-10:Q10.2 ICD-11:LA14.02 UMLS:C5681344 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519386 Isolated congenital entropion ORPHA:519386 ICD-10:Q10.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA14.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681344 E (Exact mapping: the two concepts are equivalent) A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients. Orphanet ICD-10:Q13.8 OMIM:617319 UMLS:C4310622 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519388 Autosomal recessive anterior segment dysgenesis ORPHA:519388 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617319 E (Exact mapping: the two concepts are equivalent) UMLS:C4310622 E (Exact mapping: the two concepts are equivalent) A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis. Orphanet ICD-10:H02.3 ICD-11:9A06.8 UMLS:C5681341 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519390 Isolated blepharochalasis ORPHA:519390 ICD-10:H02.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9A06.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681341 E (Exact mapping: the two concepts are equivalent) A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients in the seventh decade of life and is often associated with glaucoma. It may begin on one side but is typically a bilateral disease. The inferior part of the iris is most commonly involved. Orphanet ICD-10:H21.2 ICD-11:LA11.61 UMLS:C5681340 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519392 Isolated iridoschisis ORPHA:519392 ICD-10:H21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA11.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681340 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated microspherophakia OBSOLETE: Isolated microphakia ORPHA:519394 A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. Orphanet ICD-10:Q12.4 ICD-11:LA12.3 UMLS:C5681342 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519396 Isolated microspherophakia ORPHA:519396 ICD-10:Q12.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA12.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681342 E (Exact mapping: the two concepts are equivalent) A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology. Orphanet ICD-10:H35.8 MeSH:C565005 UMLS:C1850993 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519398 Isolated foveal hypoplasia ORPHA:519398 ICD-10:H35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565005 E (Exact mapping: the two concepts are equivalent) UMLS:C1850993 E (Exact mapping: the two concepts are equivalent) A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Orphanet ICD-10:Q14.2 ICD-11:LA13.7Y UMLS:C5681346 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519400 Peripapillary staphyloma ORPHA:519400 ICD-10:Q14.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681346 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla. Orphanet ICD-10:Q14.2 ICD-11:LA13.74 UMLS:C5681347 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519402 Isolated megalopapilla ORPHA:519402 ICD-10:Q14.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.74 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681347 E (Exact mapping: the two concepts are equivalent) A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. Orphanet ICD-10:Q14.2 ICD-11:LA13.7Y MedDRA:10079967 UMLS:C0338504 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519404 Optic disc pit ORPHA:519404 ICD-10:Q14.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10079967 E (Exact mapping: the two concepts are equivalent) UMLS:C0338504 E (Exact mapping: the two concepts are equivalent) Thygeson superficial punctate keratopathy A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, and blurred vision. The condition is typically bilateral, takes a relapsing-remitting course, and is mostly self-limiting after a few years. Orphanet ICD-10:H16.1 ICD-11:9A78.Z UMLS:C4551636 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519406 Thygeson superficial punctate keratitis ORPHA:519406 ICD-10:H16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A78.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4551636 E (Exact mapping: the two concepts are equivalent) A rare disorder of the anterior segment of the eye characterized by a unilateral or bilateral rapidly progressive, intractable, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. The destructive process involves stromal corneal tissue only, leaving the epithelium and endothelium largely unaffected. There is no involvement of the adjacent sclera. The condition can be complicated by glaucoma, cataract, and perforation. Orphanet ICD-10:H16.0 ICD-11:9A76 UMLS:C0155072 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519408 Mooren ulcer ORPHA:519408 ICD-10:H16.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9A76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0155072 E (Exact mapping: the two concepts are equivalent) A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation. Orphanet ICD-10:H18.4 UMLS:C0271283 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519410 Terrien marginal degeneration ORPHA:519410 ICD-10:H18.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0271283 E (Exact mapping: the two concepts are equivalent) 1q22 AIBP MGC119143 MGC119144 MGC119145 NAD(P)H-hydrate epimerase YJEFN1 apoA-I binding protein Ensembl:ENSG00000163382 HGNC:18453 OMIM:608862 SwissProt:Q8NCW5 NAXE NAD(P)HX epimerase 9p21.2 DOA1 DOA1 homolog (S. cerevisiae) FLJ11281 FLJ12699 PLA2P PLAP Ensembl:ENSG00000137055 HGNC:9043 OMIM:603873 SwissProt:Q9Y263 PLAA phospholipase A2 activating protein 11p15.2 TC21 Ensembl:ENSG00000133818 HGNC:17271 OMIM:600098 SwissProt:P62070 RRAS2 RAS related 2 Keratomycosis Mycotic keratitis A rare disorder of the anterior segment of the eye characterized by ocular infection by human-pathogenic fungi, most commonly <i>Aspergillus</i>, <i>Candida</i>, or <i>Fusarium</i> species, which gain access into the corneal stroma through a defect in the corneal epithelium. Risk factors include trauma, ocular surface disease, contact lenses, or immunocompromised state. Patients present with pain, foreign body sensation, redness, photophobia, tearing, secretion, or blurred vision. The condition may be complicated by corneal destruction and perforation, endophthalmitis, scleritis, and panophthalmitis. Orphanet ICD-10:H16.8 ICD-11:9A71 MedDRA:10062353 UMLS:C1262117 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=519930 Fungal keratitis ORPHA:519930 ICD-10:H16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10062353 E (Exact mapping: the two concepts are equivalent) UMLS:C1262117 E (Exact mapping: the two concepts are equivalent) Alagille-Watson syndrome Arteriohepatic dysplasia Syndromic bile duct paucity A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. Orphanet ICD-10:Q44.7 ICD-11:LB20.0Y MeSH:D016738 MedDRA:10053870 OMIM:118450 OMIM:610205 UMLS:C0085280 Autosomal dominant All ages Australia AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 2.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52 Alagille syndrome ORPHA:52 ICD-10:Q44.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016738 E (Exact mapping: the two concepts are equivalent) MedDRA:10053870 E (Exact mapping: the two concepts are equivalent) OMIM:118450 E (Exact mapping: the two concepts are equivalent) OMIM:610205 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0085280 E (Exact mapping: the two concepts are equivalent) AML M3 AML with t(15;17)(q22;q12);(PML/RARalpha) and variants APML Acute myeloblastic leukemia 3 Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue. Orphanet ICD-10:C92.4 ICD-11:2A60.0 ICD-11:XH1A50 MeSH:D015473 MedDRA:10001019 OMIM:612376 UMLS:C0023487 Not applicable Adolescent Adult Childhood Elderly Europe AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.28 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=520 Acute promyelocytic leukemia ORPHA:520 ICD-10:C92.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:XH1A50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015473 E (Exact mapping: the two concepts are equivalent) MedDRA:10001019 E (Exact mapping: the two concepts are equivalent) OMIM:612376 E (Exact mapping: the two concepts are equivalent) UMLS:C0023487 E (Exact mapping: the two concepts are equivalent) 11p11.2 deletion Proximal 11p deletion syndrome A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Orphanet ICD-10:Q93.5 ICD-11:LD44.B1 MeSH:C538356 OMIM:601224 UMLS:C1832588 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52022 Potocki-Shaffer syndrome ORPHA:52022 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.B1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538356 E (Exact mapping: the two concepts are equivalent) OMIM:601224 E (Exact mapping: the two concepts are equivalent) UMLS:C1832588 E (Exact mapping: the two concepts are equivalent) Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. Orphanet ICD-10:Q87.8 OMIM:608406 UMLS:C4303988 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52047 Braddock syndrome ORPHA:52047 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608406 E (Exact mapping: the two concepts are equivalent) UMLS:C4303988 E (Exact mapping: the two concepts are equivalent) Longman-Tolmie syndrome Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Orphanet ICD-10:Q87.0 OMIM:608432 UMLS:C4303809 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52054 Craniosynostosis-intracranial calcifications syndrome ORPHA:52054 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608432 E (Exact mapping: the two concepts are equivalent) UMLS:C4303809 E (Exact mapping: the two concepts are equivalent) Graham-Cox syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Orphanet ICD-10:Q87.8 OMIM:300472 UMLS:C4302679 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300472 E (Exact mapping: the two concepts are equivalent) UMLS:C4302679 E (Exact mapping: the two concepts are equivalent) Morava-Mehes syndrome A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Orphanet ICD-10:Q73.8 OMIM:608571 UMLS:C4304397 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52056 Ulnar/fibula ray defect-brachydactyly syndrome ORPHA:52056 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608571 E (Exact mapping: the two concepts are equivalent) UMLS:C4304397 E (Exact mapping: the two concepts are equivalent) 7p14.3 Hcam3 ClinVar:PDE1C Ensembl:ENSG00000154678 Genatlas:PDE1C HGNC:8776 IUPHAR:1296 OMIM:602987 Reactome:Q14123 SwissProt:Q14123 PDE1C phosphodiesterase 1C 7p21.1 bHLHe76 ClinVar:AHR Ensembl:ENSG00000106546 Genatlas:AHR HGNC:348 IUPHAR:2951 OMIM:600253 Reactome:P35869 SwissProt:P35869 AHR aryl hydrocarbon receptor 19q13.43 KAP-1 KAP1 KRAB-associated protein 1 PPP1R157 RING finger protein 96 RNF96 TF1B TIF1-beta TIF1B TIF1beta Transcription intermediary factor 1-beta protein phosphatase 1, regulatory subunit 157 ClinVar:TRIM28 Ensembl:ENSG00000130726 Genatlas:TRIM28 HGNC:16384 IUPHAR:2253 OMIM:601742 Reactome:Q13263 SwissProt:Q13263 TRIM28 tripartite motif containing 28 1p34.2 FLJ11838 ClinVar:PPCS Ensembl:ENSG00000127125 Genatlas:PPCS HGNC:25686 OMIM:609853 Reactome:Q9HAB8 SwissProt:Q9HAB8 PPCS phosphopantothenoylcysteine synthetase UMLS:C5681453 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=520814 Rare disorder of the visual organs Category ORPHA:520814 UMLS:C5681453 E (Exact mapping: the two concepts are equivalent) UMLS:C5681452 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=520817 Isolated inherited retinal disorder Category ORPHA:520817 UMLS:C5681452 E (Exact mapping: the two concepts are equivalent) ICD-11:9C82.0 MedDRA:10036802 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=520820 Progressive external ophthalmoplegia Category ORPHA:520820 ICD-11:9C82.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10036802 E (Exact mapping: the two concepts are equivalent) 4q27 PM/Scl-75 RRP45 Rrp45p p5 p6 polymyositis/scleroderma autoantigen 1 (75kD) ClinVar:EXOSC9 Ensembl:ENSG00000123737 Genatlas:EXOSC9 HGNC:9137 OMIM:606180 Reactome:Q06265 SwissProt:Q06265 EXOSC9 exosome component 9 CML Chronic granulocytic leukemia Chronic myelogenous leukemia Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases. Orphanet ICD-10:C92.1 ICD-11:2B33.2 ICD-11:XH4XG8 MedDRA:10009013 OMIM:608232 UMLS:C0023473 Not applicable Adolescent Adult Childhood Infancy Europe AND has_annual_incidence_average_value : 1.25 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 5.63 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 1.25 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521 Chronic myeloid leukemia ORPHA:521 ICD-10:C92.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B33.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH4XG8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10009013 E (Exact mapping: the two concepts are equivalent) OMIM:608232 E (Exact mapping: the two concepts are equivalent) UMLS:C0023473 E (Exact mapping: the two concepts are equivalent) A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral. Orphanet ICD-10:G54.0 ICD-11:8B91.Y UMLS:C5681446 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521123 Radiation-induced plexopathy ORPHA:521123 ICD-10:G54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681446 E (Exact mapping: the two concepts are equivalent) A rare radiation-induced disorder characterized by exposed irradiated bone that fails to heal over a period of three months without evidence of persisting or recurrent tumor. Patients present with pain, dysesthesia, dysgeusia, fetor oris, trismus, ulceration or necrosis of the mucosa with exposure of necrotic bone, and local suppuration. Complications include pathological fractures, formation of intra- or extra-oral fistulae, and infection. MRI shows cortical destruction, abnormal bone marrow signal, and irregular contrast enhancement. Orphanet ICD-10:K10.2 ICD-11:DA06.0 UMLS:C1290728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521127 Osteoradionecrosis of the mandible ORPHA:521127 ICD-10:K10.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DA06.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1290728 E (Exact mapping: the two concepts are equivalent) UMLS:C1527225 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521132 Radiation-induced disorder Category ORPHA:521132 UMLS:C1527225 E (Exact mapping: the two concepts are equivalent) Extrinsic biliary compression syndrome A rare biliary tract disease characterized by external compression and subsequent obstruction of an extrahepatic biliary duct by one or more gallstones in the cystic duct or the gallbladder. Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, or cholangitis. Cholecystobiliary or -enteric fistulae can arise due to chronic inflammation and ulceration. Orphanet ICD-10:K80.8 ICD-11:DC11.Y MeSH:D057792 UMLS:C0267878 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521219 Mirizzi syndrome ORPHA:521219 ICD-10:K80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DC11.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D057792 E (Exact mapping: the two concepts are equivalent) UMLS:C0267878 E (Exact mapping: the two concepts are equivalent) UMLS:C5681448 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521232 Genetic primary orthostatic disorder Category ORPHA:521232 UMLS:C5681448 E (Exact mapping: the two concepts are equivalent) UMLS:C5681449 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521236 Primary orthostatic disorder Category ORPHA:521236 UMLS:C5681449 E (Exact mapping: the two concepts are equivalent) Dup(X)(q25) Xq25 microtriplication A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Orphanet ICD-10:Q98.8 OMIM:300979 UMLS:C5447842 Childhood Infancy Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521258 Xq25 microduplication syndrome ORPHA:521258 ICD-10:Q98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300979 E (Exact mapping: the two concepts are equivalent) UMLS:C5447842 E (Exact mapping: the two concepts are equivalent) OBSOLETE: SLC5A6-related congenital disorder of glycosylation This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Disorder of other vitamins and cofactors metabolism and transport OBSOLETE: SLC5A6-CDG ORPHA:521268 A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery. Orphanet ICD-10:G72.8 MeSH:C563453 OMIM:600706 UMLS:C1833453 Adolescent Adult Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521305 Proximal myopathy with focal depletion of mitochondria ORPHA:521305 ICD-10:G72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563453 E (Exact mapping: the two concepts are equivalent) OMIM:600706 E (Exact mapping: the two concepts are equivalent) UMLS:C1833453 E (Exact mapping: the two concepts are equivalent) A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis. Orphanet ICD-10:Q87.0 UMLS:C5567892 Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome ORPHA:521308 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5567892 E (Exact mapping: the two concepts are equivalent) SINO syndrome A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of <i>KIDINS220</i> associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. Orphanet ICD-10:G11.4 OMIM:617296 UMLS:C4284592 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617296 E (Exact mapping: the two concepts are equivalent) UMLS:C4284592 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non rare obesity ORPHA:521399 A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions. Orphanet ICD-10:E83.8 OMIM:617013 UMLS:C4310765 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521406 Dystonia-parkinsonism-hypermanganesemia syndrome ORPHA:521406 ICD-10:E83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617013 E (Exact mapping: the two concepts are equivalent) UMLS:C4310765 E (Exact mapping: the two concepts are equivalent) Autosomal recessive axonal CMT due to copper metabolism defect A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described. Orphanet ICD-10:G60.0 UMLS:C5569051 Autosomal recessive Adolescent Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect ORPHA:521411 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5569051 E (Exact mapping: the two concepts are equivalent) ATP1A1-related CMT2 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 CMT2DD A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype. Orphanet ICD-10:G60.0 OMIM:618036 UMLS:C4747974 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 51.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD ORPHA:521414 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618036 E (Exact mapping: the two concepts are equivalent) UMLS:C4747974 E (Exact mapping: the two concepts are equivalent) PLAAND A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. Orphanet ICD-10:Q87.8 OMIM:617527 UMLS:C4479631 Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521426 PLAA-associated neurodevelopmental disorder ORPHA:521426 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617527 E (Exact mapping: the two concepts are equivalent) UMLS:C4479631 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Orphanet ICD-10:K83.1 UMLS:C5681444 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome ORPHA:521432 ICD-10:K83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681444 E (Exact mapping: the two concepts are equivalent) Congenital NAD deficiency disorder A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Orphanet ICD-10:Q87.8 OMIM:617660 OMIM:617661 OMIM:618845 UMLS:C5680183 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521438 Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617660 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617661 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618845 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680183 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Orphanet ICD-10:Q87.8 UMLS:C5681443 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome ORPHA:521445 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681443 E (Exact mapping: the two concepts are equivalent) A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. Orphanet ICD-10:M79.8 UMLS:C5681442 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=521450 LAMA5-related multisystemic syndrome ORPHA:521450 ICD-10:M79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681442 E (Exact mapping: the two concepts are equivalent) 17p11.2 ZGRF7 zinc finger, GRF-type containing 7 ClinVar:TOP3A Ensembl:ENSG00000177302 Genatlas:TOP3A HGNC:11992 OMIM:601243 Reactome:Q13472 SwissProt:Q13472 TOP3A DNA topoisomerase III alpha 8q24.11-q24.12 FLJ39458 Ensembl:ENSG00000177570 HGNC:31750 OMIM:618073 SwissProt:Q8N8I0 SAMD12 sterile alpha motif domain containing 12 15q15.1 FLJ14502 SKAP TRAF4 associated factor 1 TRAF4AF1 kinastrin kinetochore-localized astrin-binding protein small kinetochore-associated protein ClinVar:KNSTRN Ensembl:ENSG00000128944 Genatlas:KNSTRN HGNC:30767 OMIM:614718 Reactome:Q9Y448 SwissProt:Q9Y448 KNSTRN kinetochore localized astrin (SPAG5) binding protein This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive primary microcephaly Premature chromosome condensation with microcephaly and intellectual disability ORPHA:52183 15q14 CalDAG-GEFII RASGRP calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II ClinVar:RASGRP1 Ensembl:ENSG00000172575 Genatlas:RASGRP1 HGNC:9878 IUPHAR:3016 OMIM:603962 Reactome:O95267 SwissProt:O95267 RASGRP1 RAS guanyl releasing protein 1 A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy. Orphanet ICD-10:D89.8 UMLS:C5681441 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522037 Primary autoimmune enteropathy ORPHA:522037 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681441 E (Exact mapping: the two concepts are equivalent) UMLS:C5681440 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522043 Syndromic autoimmune enteropathy Clinical group ORPHA:522043 UMLS:C5681440 E (Exact mapping: the two concepts are equivalent) BAGOS Baker-Gordon syndrome SYT1-related neurodevelopmental disorder A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. Orphanet ICD-10:F84.8 OMIM:618218 UMLS:C4748715 Infancy Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome ORPHA:522077 ICD-10:F84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618218 E (Exact mapping: the two concepts are equivalent) UMLS:C4748715 E (Exact mapping: the two concepts are equivalent) UMLS:C5681439 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522504 Rare genetic disorder of the visual organs Category ORPHA:522504 UMLS:C5681439 E (Exact mapping: the two concepts are equivalent) UMLS:C5681438 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522506 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature Category ORPHA:522506 UMLS:C5681438 E (Exact mapping: the two concepts are equivalent) UMLS:C5681437 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522508 Rare genetic ophthalmic disorder with cortical involvement Category ORPHA:522508 UMLS:C5681437 E (Exact mapping: the two concepts are equivalent) UMLS:C5681435 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522510 Rare genetic ophthalmic disorder with cranial nerve involvement Category ORPHA:522510 UMLS:C5681435 E (Exact mapping: the two concepts are equivalent) UMLS:C5681436 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522512 Rare genetic optic nerve disorder Category ORPHA:522512 UMLS:C5681436 E (Exact mapping: the two concepts are equivalent) UMLS:C5681433 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522514 Congenital optic disc excavation of genetic origin Category ORPHA:522514 UMLS:C5681433 E (Exact mapping: the two concepts are equivalent) UMLS:C5681434 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522516 Rare genetic ocular motility/alignment disorder Category ORPHA:522516 UMLS:C5681434 E (Exact mapping: the two concepts are equivalent) UMLS:C5681431 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522518 Rare genetic disorder with strabismus Category ORPHA:522518 UMLS:C5681431 E (Exact mapping: the two concepts are equivalent) UMLS:C5681432 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522520 Syndromic genetic disorder with strabismus Category ORPHA:522520 UMLS:C5681432 E (Exact mapping: the two concepts are equivalent) UMLS:C5681428 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522522 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly Category ORPHA:522522 UMLS:C5681428 E (Exact mapping: the two concepts are equivalent) UMLS:C5681430 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522524 Rare genetic disorder of the ocular adnexa Category ORPHA:522524 UMLS:C5681430 E (Exact mapping: the two concepts are equivalent) UMLS:C5681426 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522526 Rare genetic palpebral disorder Category ORPHA:522526 UMLS:C5681426 E (Exact mapping: the two concepts are equivalent) UMLS:C5681427 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522528 Rare genetic eyelid malposition disorder Category ORPHA:522528 UMLS:C5681427 E (Exact mapping: the two concepts are equivalent) UMLS:C5681424 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522530 Rare genetic disorder with entropion Category ORPHA:522530 UMLS:C5681424 E (Exact mapping: the two concepts are equivalent) UMLS:C5681425 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522532 Rare genetic disorder of the lacrimal apparatus Category ORPHA:522532 UMLS:C5681425 E (Exact mapping: the two concepts are equivalent) UMLS:C5681422 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522534 Lacrimal drainage system anomaly of genetic origin Category ORPHA:522534 UMLS:C5681422 E (Exact mapping: the two concepts are equivalent) UMLS:C5681423 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522536 Structural developmental eye defect of genetic origin Category ORPHA:522536 UMLS:C5681423 E (Exact mapping: the two concepts are equivalent) UMLS:C5681420 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522538 Rare genetic disorder of the anterior segment of the eye Category ORPHA:522538 UMLS:C5681420 E (Exact mapping: the two concepts are equivalent) UMLS:C5681421 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522540 Anterior segment developmental anomaly of genetic origin Category ORPHA:522540 UMLS:C5681421 E (Exact mapping: the two concepts are equivalent) UMLS:C5681417 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522542 Rare genetic disorder with conjunctival involvement as a major feature Category ORPHA:522542 UMLS:C5681417 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare conjunctivitis OBSOLETE: Rare genetic conjunctivitis ORPHA:522544 UMLS:C5681419 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522546 Rare genetic disorder with lens opacification Category ORPHA:522546 UMLS:C5681419 E (Exact mapping: the two concepts are equivalent) UMLS:C5681418 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522548 Syndromic genetic cataract Category ORPHA:522548 UMLS:C5681418 E (Exact mapping: the two concepts are equivalent) UMLS:C5681414 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522550 Lens size anomaly of genetic origin Category ORPHA:522550 UMLS:C5681414 E (Exact mapping: the two concepts are equivalent) UMLS:C5681413 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522552 Lens position anomaly of genetic origin Category ORPHA:522552 UMLS:C5681413 E (Exact mapping: the two concepts are equivalent) UMLS:C5681416 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522554 Syndromic genetic ectopia lentis Category ORPHA:522554 UMLS:C5681416 E (Exact mapping: the two concepts are equivalent) UMLS:C5681415 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522556 Rare genetic corneal disorder Category ORPHA:522556 UMLS:C5681415 E (Exact mapping: the two concepts are equivalent) UMLS:C5681410 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522558 Rare genetic disorder with corneal involvement as a major feature Category ORPHA:522558 UMLS:C5681410 E (Exact mapping: the two concepts are equivalent) UMLS:C5681409 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522560 Genetic corneal dystrophy Category ORPHA:522560 UMLS:C5681409 E (Exact mapping: the two concepts are equivalent) UMLS:C5681412 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522562 Genetic superficial corneal dystrophy Category ORPHA:522562 UMLS:C5681412 E (Exact mapping: the two concepts are equivalent) UMLS:C5681411 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522564 Syndromic genetic keratoconus Category ORPHA:522564 UMLS:C5681411 E (Exact mapping: the two concepts are equivalent) UMLS:C5681406 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522566 Rare genetic inflammatory/autoimmune corneal disorder Category ORPHA:522566 UMLS:C5681406 E (Exact mapping: the two concepts are equivalent) UMLS:C5681405 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522568 Rare genetic disorder of the pupil Category ORPHA:522568 UMLS:C5681405 E (Exact mapping: the two concepts are equivalent) UMLS:C5681408 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522570 Rare genetic disorder of the posterior segment of the eye Category ORPHA:522570 UMLS:C5681408 E (Exact mapping: the two concepts are equivalent) UMLS:C5681407 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522572 Rare genetic retinal disorder Category ORPHA:522572 UMLS:C5681407 E (Exact mapping: the two concepts are equivalent) UMLS:C5681401 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522574 Rare genetic macular disorder Category ORPHA:522574 UMLS:C5681401 E (Exact mapping: the two concepts are equivalent) UMLS:C5681402 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522576 Rare genetic retinal vasculopathy Category ORPHA:522576 UMLS:C5681402 E (Exact mapping: the two concepts are equivalent) UMLS:C5681403 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522578 Rare genetic disorder involving multiple structures of the eye Category ORPHA:522578 UMLS:C5681403 E (Exact mapping: the two concepts are equivalent) UMLS:C5681404 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522580 Secondary early-onset glaucoma of genetic origin Category ORPHA:522580 UMLS:C5681404 E (Exact mapping: the two concepts are equivalent) UMLS:C5681399 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522584 Rare genetic choroidal disorder Category ORPHA:522584 UMLS:C5681399 E (Exact mapping: the two concepts are equivalent) Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial multiple cutaneous leiomyomas HLRCC Hereditary leiomyomatosis Hereditary leiomyomatosis with renal carcinoma Hereditary multiple cutaneous leiomyomas MCUL Multiple cutaneous and uterine leiomyomas Reed syndrome Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Orphanet ICD-10:C64 ICD-11:2C90.Y MeSH:C535516 OMIM:150800 UMLS:C1708350 Autosomal dominant Adolescent Adult Elderly Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=523 Hereditary leiomyomatosis and renal cell cancer ORPHA:523 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535516 E (Exact mapping: the two concepts are equivalent) OMIM:150800 E (Exact mapping: the two concepts are equivalent) UMLS:C1708350 E (Exact mapping: the two concepts are equivalent) UMLS:C5681400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=523000 Pediatric-onset glaucoma Category ORPHA:523000 UMLS:C5681400 E (Exact mapping: the two concepts are equivalent) DDON syndrome Deafness-dystonia-optic neuronopathy syndrome Hearing loss-dystonia-optic neuronopathy syndrome A rare X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. Orphanet ICD-10:E88.8 ICD-11:8A02.12 MeSH:C535808 OMIM:304700 UMLS:C0796074 X-linked recessive Childhood Worldwide AND has_cases/families_value : 91.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52368 Mohr-Tranebjaerg syndrome ORPHA:52368 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535808 E (Exact mapping: the two concepts are equivalent) OMIM:304700 E (Exact mapping: the two concepts are equivalent) UMLS:C0796074 E (Exact mapping: the two concepts are equivalent) A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers. Orphanet ICD-10:C97 ICD-11:2B51.Y MeSH:D016864 MedDRA:10066795 OMIM:151623 OMIM:609265 UMLS:C0085390 Autosomal dominant All ages United Kingdom AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=524 Li-Fraumeni syndrome ORPHA:524 ICD-10:C97 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016864 E (Exact mapping: the two concepts are equivalent) MedDRA:10066795 E (Exact mapping: the two concepts are equivalent) OMIM:151623 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609265 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0085390 E (Exact mapping: the two concepts are equivalent) LCM MCL Mantle zone lymphoma Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''. Orphanet ICD-10:C83.1 ICD-11:2A85.5 MeSH:D020522 MedDRA:10061275 UMLS:C4721414 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 1.05 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52416 Mantle cell lymphoma ORPHA:52416 ICD-10:C83.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A85.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020522 E (Exact mapping: the two concepts are equivalent) MedDRA:10061275 E (Exact mapping: the two concepts are equivalent) UMLS:C4721414 E (Exact mapping: the two concepts are equivalent) Extranodal marginal zone B-cell lymphoma MALToma Mucosa-associated lymphatic tissue lymphoma Mucosa-associated lymphoid tissue lymphoma MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes. Orphanet ICD-10:C88.4 MedDRA:10060707 OMIM:137245 UMLS:C1850900 Multigenic/multifactorial Not applicable Adult Europe AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.59 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52417 MALT lymphoma ORPHA:52417 ICD-10:C88.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10060707 E (Exact mapping: the two concepts are equivalent) OMIM:137245 E (Exact mapping: the two concepts are equivalent) UMLS:C1850900 E (Exact mapping: the two concepts are equivalent) 2q23.3 MGC33864 ClinVar:ARL6IP6 Ensembl:ENSG00000177917 Genatlas:ARL6IP6 HGNC:24048 OMIM:616495 Reactome:Q8N6S5 SwissProt:Q8N6S5 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 RPA A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life. Orphanet ICD-10:H35.5 ICD-11:9B70 OMIM:136880 UMLS:C1405854 Autosomal dominant Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 0.175 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.125 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52427 Retinitis punctata albescens ORPHA:52427 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:136880 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1405854 E (Exact mapping: the two concepts are equivalent) CMD1C MDC1C This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital muscular dystrophy due to dystroglycanopathy UMLS:C1847759 Congenital muscular dystrophy type 1C ORPHA:52428 UMLS:C1847759 E (Exact mapping: the two concepts are equivalent) Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C537104 OMIM:120502 OMIM:602588 OMIM:608389 UMLS:C4273131 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52429 Branchiootic syndrome ORPHA:52429 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537104 E (Exact mapping: the two concepts are equivalent) OMIM:120502 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602588 E (Exact mapping: the two concepts are equivalent) OMIM:608389 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4273131 E (Exact mapping: the two concepts are equivalent) IBMPFD Limb-girdle muscular dystrophy with Paget disease of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. Orphanet ICD-10:G71.8 ICD-11:4A41.21 MeSH:C563476 OMIM:167320 OMIM:615422 OMIM:615424 UMLS:C1833662 Autosomal dominant Adult Worldwide AND has_cases/families_value : 26.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ORPHA:52430 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563476 E (Exact mapping: the two concepts are equivalent) OMIM:167320 E (Exact mapping: the two concepts are equivalent) OMIM:615422 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615424 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1833662 E (Exact mapping: the two concepts are equivalent) Follicular lichen planus LPP Lichen follicularis Lichen planus follicularis A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. Orphanet ICD-10:L66.1 ICD-11:EA91.2 MeSH:C535892 MedDRA:10081142 UMLS:C0023645 Not applicable Adult Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=525 Lichen planopilaris ORPHA:525 ICD-10:L66.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EA91.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535892 E (Exact mapping: the two concepts are equivalent) MedDRA:10081142 E (Exact mapping: the two concepts are equivalent) UMLS:C0023645 E (Exact mapping: the two concepts are equivalent) Creatine transporter deficiency SLC6A8 deficiency X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. Orphanet ICD-10:E72.8 ICD-11:5C53.4 MeSH:C535598 OMIM:300352 UMLS:C1845862 Not applicable X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52503 X-linked creatine transporter deficiency ORPHA:52503 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535598 E (Exact mapping: the two concepts are equivalent) OMIM:300352 E (Exact mapping: the two concepts are equivalent) UMLS:C1845862 E (Exact mapping: the two concepts are equivalent) 3p25.1 Rabenosyn-5 ClinVar:RBSN Ensembl:ENSG00000131381 Genatlas:RBSN HGNC:20759 OMIM:609511 Reactome:Q9H1K0 SwissProt:Q9H1K0 RBSN rabenosyn, RAB effector 9q33.3 DKFZP434C212 KIAA1521 ClinVar:GAPVD1 Ensembl:ENSG00000165219 Genatlas:GAPVD1 HGNC:23375 OMIM:611714 Reactome:Q14C86 SwissProt:Q14C86 GAPVD1 GTPase activating protein and VPS9 domains 1 17p13.2 ANKHZN BTBD23 KIAA1255 RANK-5 ZFYVE14 rabankyrin-5 ClinVar:ANKFY1 Ensembl:ENSG00000185722 Genatlas:ANKFY1 HGNC:20763 OMIM:607927 Reactome:Q9P2R3 SwissProt:Q9P2R3 ANKFY1 ankyrin repeat and FYVE domain containing 1 PT-VWD Platelet type-von Willebrand disease Pseudo-von Willebrand disease type 2B A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia. Orphanet ICD-10:D69.8 ICD-11:3B62.Y MeSH:C536458 OMIM:177820 UMLS:C1280798 Autosomal dominant Adult Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52530 Pseudo-von Willebrand disease ORPHA:52530 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536458 E (Exact mapping: the two concepts are equivalent) OMIM:177820 E (Exact mapping: the two concepts are equivalent) UMLS:C1280798 E (Exact mapping: the two concepts are equivalent) 5q13.2 MAP5 PPP1R102 protein phosphatase 1, regulatory subunit 102 ClinVar:MAP1B Ensembl:ENSG00000131711 Genatlas:MAP1B HGNC:6836 OMIM:157129 Reactome:P46821 SwissProt:P46821 MAP1B microtubule associated protein 1B 19p13.11 FELS PV-1 PV1 fenestrated-endothelial linked structure protein; PV-1 protein gp68 ClinVar:PLVAP Ensembl:ENSG00000130300 Genatlas:PLVAP HGNC:13635 OMIM:607647 SwissProt:Q9BX97 PLVAP plasmalemma vesicle associated protein UMLS:C5681398 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=525677 Genetic congenital malformation of the eye with glaucoma as a major feature Category ORPHA:525677 UMLS:C5681398 E (Exact mapping: the two concepts are equivalent) Pediatric-onset Basedow disease A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others. Orphanet ICD-10:E05.0 UMLS:C5680179 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=525731 Pediatric-onset Graves disease ORPHA:525731 ICD-10:E05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680179 E (Exact mapping: the two concepts are equivalent) A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others. Orphanet ICD-10:F50.0 UMLS:C5568567 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=525738 Prepubertal anorexia nervosa ORPHA:525738 ICD-10:F50.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568567 E (Exact mapping: the two concepts are equivalent) 15q25.1 H-IDH alpha NAD(H)-specific isocitrate dehydrogenase alpha subunit NAD+-specific ICDH isocitrate dehydrogenase (NAD+) alpha chain isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial isocitric dehydrogenase ClinVar:IDH3A Ensembl:ENSG00000166411 Genatlas:IDH3A HGNC:5384 OMIM:601149 Reactome:P50213 SwissProt:P50213 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Pseudoaldosteronism A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone. Orphanet ICD-10:I15.1 ICD-11:BA04.Y MeSH:D056929 MedDRA:10052313 OMIM:177200 OMIM:618114 OMIM:618126 UMLS:C0221043 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 72.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=526 Liddle syndrome ORPHA:526 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056929 E (Exact mapping: the two concepts are equivalent) MedDRA:10052313 E (Exact mapping: the two concepts are equivalent) OMIM:177200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618114 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618126 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0221043 E (Exact mapping: the two concepts are equivalent) Acquired embryofetopathy UMLS:C5680156 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52662 Rare teratologic disease Category Head of classification ORPHA:52662 UMLS:C5680156 E (Exact mapping: the two concepts are equivalent) A group of myeloid hemopathies characterized by blood cytopenias, marrow dysplasia and a high risk of progression to acute myeloid leukemia (AML). Orphanet MeSH:D009190 MedDRA:10028532 OMIM:614286 UMLS:C3463824 All ages Europe AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 5.02 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 6.4 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 4.15 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 5.4 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.35 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 1.95 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 6.2 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 8.1 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 3.5 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 3.8 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 8.5 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 3.35 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52688 Myelodysplastic syndrome Clinical group ORPHA:52688 MeSH:D009190 E (Exact mapping: the two concepts are equivalent) MedDRA:10028532 E (Exact mapping: the two concepts are equivalent) OMIM:614286 E (Exact mapping: the two concepts are equivalent) UMLS:C3463824 E (Exact mapping: the two concepts are equivalent) A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. Orphanet ICD-10:E88.8 ICD-11:5C5Y OMIM:614388 OMIM:617086 UMLS:C5681458 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=527276 Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614388 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617086 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681458 E (Exact mapping: the two concepts are equivalent) A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. Orphanet ICD-10:Q87.5 OMIM:617662 UMLS:C4540020 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=527450 Severe myopia-generalized joint laxity-short stature syndrome ORPHA:527450 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617662 E (Exact mapping: the two concepts are equivalent) UMLS:C4540020 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. Orphanet ICD-10:Q87.8 UMLS:C5681454 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=527468 Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681454 E (Exact mapping: the two concepts are equivalent) Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia SPAX8 A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Orphanet ICD-10:E75.2 OMIM:617560 UMLS:C4479653 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy ORPHA:527497 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617560 E (Exact mapping: the two concepts are equivalent) UMLS:C4479653 E (Exact mapping: the two concepts are equivalent) Systemic vasculitis Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease. Orphanet ICD-11:4A44 MeSH:D014657 MedDRA:10047115 UMLS:C0042384 Europe AND has_point_prevalence_average_value : 6.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52759 Vasculitis Category ORPHA:52759 ICD-11:4A44 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014657 E (Exact mapping: the two concepts are equivalent) MedDRA:10047115 E (Exact mapping: the two concepts are equivalent) UMLS:C0042384 E (Exact mapping: the two concepts are equivalent) BSCL Berardinelli-Seip congenital lipodystrophy Berardinelli-Seip syndrome CGL Lipoatrophic diabetes A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis. Orphanet ICD-10:E88.1 ICD-11:LD27.60 MeSH:D052497 MedDRA:10024603 OMIM:269700 OMIM:606721 OMIM:608594 OMIM:612526 OMIM:613327 UMLS:C0221032 Autosomal recessive Childhood Infancy Neonatal Brazil AND has_point_prevalence_average_value : 3.23 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Lebanon AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Oman AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Peru AND has_point_prevalence_average_value : 0.86 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Turkey AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.6812 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528 Congenital generalized lipodystrophy ORPHA:528 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D052497 E (Exact mapping: the two concepts are equivalent) MedDRA:10024603 E (Exact mapping: the two concepts are equivalent) OMIM:269700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606721 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:608594 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612526 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613327 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0221032 E (Exact mapping: the two concepts are equivalent) Complex neurodevelopmental disorder A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems. Orphanet ICD-10:F84.8 OMIM:300978 OMIM:301029 OMIM:309590 OMIM:606053 OMIM:616078 OMIM:616083 OMIM:617435 OMIM:617755 OMIM:618009 OMIM:618060 OMIM:618292 OMIM:618342 OMIM:618430 OMIM:618470 OMIM:618512 OMIM:618569 OMIM:618653 OMIM:618659 OMIM:618748 OMIM:618859 OMIM:618906 OMIM:618914 OMIM:618922 OMIM:618971 OMIM:618974 OMIM:619000 OMIM:619004 OMIM:619005 OMIM:619031 OMIM:619056 OMIM:619072 OMIM:619076 OMIM:619083 OMIM:619091 OMIM:619092 OMIM:619099 OMIM:619149 OMIM:619157 OMIM:619239 OMIM:619243 OMIM:619244 OMIM:619264 OMIM:619268 OMIM:619306 OMIM:619311 OMIM:619314 OMIM:619320 OMIM:619758 OMIM:619759 OMIM:619950 OMIM:619951 OMIM:620065 OMIM:620098 OMIM:620191 UMLS:C5568766 Autosomal dominant Autosomal recessive X-linked recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528084 Non-specific syndromic intellectual disability ORPHA:528084 ICD-10:F84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300978 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301029 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:309590 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606053 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616078 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616083 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617755 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618009 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618060 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618292 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618342 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618430 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618470 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618512 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618569 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618653 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618659 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618748 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618859 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618906 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618914 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618922 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618971 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618974 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619004 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619005 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619031 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619056 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619072 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619076 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619083 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619092 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619099 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619149 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619157 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619239 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619243 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619244 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619264 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619268 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619306 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619311 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619314 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619320 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619758 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619759 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619950 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619951 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620065 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620098 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620191 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5568766 E (Exact mapping: the two concepts are equivalent) A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported. Orphanet ICD-10:E88.8 OMIM:617021 UMLS:C4310761 Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ORPHA:528091 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617021 E (Exact mapping: the two concepts are equivalent) UMLS:C4310761 E (Exact mapping: the two concepts are equivalent) HELIX syndrome A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria. Orphanet ICD-10:N25.8 OMIM:617671 UMLS:C4522164 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome ORPHA:528105 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617671 E (Exact mapping: the two concepts are equivalent) UMLS:C4522164 E (Exact mapping: the two concepts are equivalent) 11q23.3 EVA Ensembl:ENSG00000149573 HGNC:3496 OMIM:604873 SwissProt:O60487 MPZL2 myelin protein zero like 2 2p21 3-HAO 3-hydroxyanthranilic-acid dioxygenase HAO Ensembl:ENSG00000162882 HGNC:4796 OMIM:604521 Reactome:P46952 SwissProt:P46952 HAAO 3-hydroxyanthranilate 3,4-dioxygenase 7q21.2 CP51 CYPL1 LDM P450-14DM P450L1 Ensembl:ENSG00000001630 HGNC:2649 IUPHAR:1374 OMIM:601637 Reactome:Q16850 SwissProt:Q16850 CYP51A1 cytochrome P450 family 51 subfamily A member 1 Xp11.23 G patch domain containing 5 GPATC5 GPATCH5 Mos2 Spp2 T54 Ensembl:ENSG00000068394 HGNC:30677 OMIM:301003 Reactome:Q92917 SwissProt:Q92917 GPKOW G-patch domain and KOW motifs 9p22.2-p22.1 ADAMTSR1 FLJ35283 punctin punctin-1 Ensembl:ENSG00000178031 HGNC:14632 OMIM:609198 Reactome:Q8N6G6 SwissProt:Q8N6G6 ADAMTSL1 ADAMTS like 1 8p21.3 KIAA0062 Metal cation symporter ZIP14 NET34 ZIP-14 ZIP14 ZRT/IRT-like protein 14 zinc transporter 14 Ensembl:ENSG00000104635 HGNC:20858 IUPHAR:1193 OMIM:608736 Reactome:Q15043 SwissProt:Q15043 SLC39A14 solute carrier family 39 member 14 HAE with C1 inhibitor deficiency HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases. Orphanet ICD-10:D84.1 MedDRA:10080955 UMLS:C4552294 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528623 Hereditary angioedema with C1Inh deficiency ORPHA:528623 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10080955 E (Exact mapping: the two concepts are equivalent) UMLS:C4552294 E (Exact mapping: the two concepts are equivalent) HAE with normal C1 inhibitor HAE with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1Inh A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation. Orphanet ICD-10:T78.3 ICD-11:4A00.14 MedDRA:10080953 UMLS:C1960459 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528647 Hereditary angioedema with normal C1Inh ORPHA:528647 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10080953 E (Exact mapping: the two concepts are equivalent) UMLS:C1960459 E (Exact mapping: the two concepts are equivalent) Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable. Orphanet ICD-10:D84.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528663 Acquired angioedema with C1Inh deficiency ORPHA:528663 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). 3q27.3 EDJ ERdj3 HEDJ Ensembl:ENSG00000090520 HGNC:14889 OMIM:611341 Reactome:Q9UBS4 SwissProt:Q9UBS4 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 2q35 AE3 Anion exchanger 3, neuronal SLC2C Ensembl:ENSG00000114923 HGNC:11029 IUPHAR:906 OMIM:106195 Reactome:P48751 SwissProt:P48751 SLC4A3 solute carrier family 4 member 3 Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:E88.2 UMLS:C4274284 Autosomal dominant No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529 Roch-Leri mesosomatous lipomatosis ORPHA:529 ICD-10:E88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4274284 E (Exact mapping: the two concepts are equivalent) Isolated FSH deficiency A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired. Orphanet ICD-10:E23.6 ICD-11:5A61.0 MeSH:C537070 OMIM:229070 UMLS:C1856716 Autosomal recessive Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52901 Isolated follicle stimulating hormone deficiency ORPHA:52901 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537070 E (Exact mapping: the two concepts are equivalent) OMIM:229070 E (Exact mapping: the two concepts are equivalent) UMLS:C1856716 E (Exact mapping: the two concepts are equivalent) 3q26.33 Actl6 Arp4 BAF complex 53 kDa subunit BAF53A BRG1-associated factor BRG1-associated factor 53A Baf53a INO80 complex subunit K INO80K SMARCN1 actin-related protein 4 Ensembl:ENSG00000136518 HGNC:24124 OMIM:604958 Reactome:O96019 SwissProt:O96019 ACTL6A actin like 6A 1q41 HB24 Ensembl:ENSG00000136630 HGNC:4978 OMIM:142995 Reactome:Q14774 SwissProt:Q14774 HLX H2.0 like homeobox 20p11.21 ZBTB23 dJ322G13.2 Ensembl:ENSG00000125812 HGNC:15808 OMIM:613842 Reactome:Q9H116 SwissProt:Q9H116 GZF1 GDNF inducible zinc finger protein 1 Monoclonal MCAD A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the <i>KIT</i> D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others. Orphanet ICD-10:C94.3 UMLS:C4267893 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529468 Monoclonal mast cell activation syndrome ORPHA:529468 ICD-10:C94.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4267893 E (Exact mapping: the two concepts are equivalent) DRS with deafness DRS with hearing loss DURS with deafness DURS with hearing loss Duane retraction syndrome with congenital hearing loss A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. Orphanet ICD-10:H50.8 OMIM:617041 UMLS:C5680193 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529574 Duane retraction syndrome with congenital deafness ORPHA:529574 ICD-10:H50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617041 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680193 E (Exact mapping: the two concepts are equivalent) 13q13.3 bA421P11.2 Ensembl:ENSG00000120697 HGNC:20266 OMIM:604565 Reactome:Q9Y673 SwissProt:Q9Y673 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase 17q25.1 ADR AR Ferredoxin--NADP(+) reductase adrenodoxin reductase adrenodoxin-NADP(+) reductase Ensembl:ENSG00000161513 HGNC:3642 OMIM:103270 Reactome:P22570 SwissProt:P22570 FDXR ferredoxin reductase 1p36.33 KIAA1273 TOB3 Ensembl:ENSG00000160072 HGNC:24007 OMIM:612317 Reactome:Q5T9A4 SwissProt:Q5T9A4 ATAD3B ATPase family AAA domain containing 3B GPAA1-related biosynthesis defect A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. Orphanet ICD-10:Q87.8 OMIM:617810 UMLS:C4540520 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617810 E (Exact mapping: the two concepts are equivalent) UMLS:C4540520 E (Exact mapping: the two concepts are equivalent) 10q24.33 AGP DAPIT Diabetes Associated Protein in Insulin-sensitive Tissues MGC14697 bA792D24.4 Ensembl:ENSG00000173915 HGNC:30889 OMIM:615204 SwissProt:Q96IX5 ATP5MK ATP synthase membrane subunit k 16p11.2 COX6AH COXVIAH COXVIa-M Ensembl:ENSG00000156885 HGNC:2279 OMIM:602009 SwissProt:Q02221 COX6A2 cytochrome c oxidase subunit 6A2 17q25.3 Ensembl:ENSG00000224877 HGNC:33551 OMIM:618461 SwissProt:A1L188 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 ABE Acute kernicterus A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome. Orphanet ICD-10:P57.8 UMLS:C5671282 Neonatal United Kingdom AND has_birth_prevalence_average_value : 0.87 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529799 Acute bilirubin encephalopathy ORPHA:529799 ICD-10:P57.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5671282 E (Exact mapping: the two concepts are equivalent) BIND Bilirubin-induced neurological dysfunction CBE KSD Kernicterus spectrum disorder A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities. Orphanet ICD-10:P57.8 UMLS:C5575229 Not applicable Infancy Neonatal Canada AND has_birth_prevalence_average_value : 1.49 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_range : Unknown Denmark AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529808 Chronic bilirubin encephalopathy ORPHA:529808 ICD-10:P57.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5575229 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Pseudoexfoliation syndrome NON RARE IN EUROPE: XFS This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Exfoliation syndrome ORPHA:529819 ICD-10:T88.7 UMLS:C5681461 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529831 Letrozole toxicity ORPHA:529831 ICD-10:T88.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681461 E (Exact mapping: the two concepts are equivalent) Combined HCC-CC Combined hepatocellular-cholangiocarcinoma Hepatocholangiocarcinoma cHCC-CC A rare hepatic tumor characterized by the presence of both hepatocytic and cholangiocytic differentiation within a primary liver carcinoma. The lesion commonly arises in the context of chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Typical manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. The entity has been associated with a worse prognosis than hepatocellular carcinoma after resection. Orphanet ICD-10:C22.0 ICD-10:C22.1 ICD-11:2C12.00 UMLS:C0221287 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529852 Combined hepatocellular carcinoma and cholangiocarcinoma ORPHA:529852 ICD-10:C22.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:C22.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2C12.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0221287 E (Exact mapping: the two concepts are equivalent) Secondary erythermalgia A rare neurologic disease characterized by intermittent pain, erythema, swelling, and heat of the extremities which is aggravated by warming and improved by cooling. Attacks can last between minutes and days and tend to be precipitated by heat, exercise, or physical dependence. The disease may be linked to a variety of underlying conditions including hematological, metabolic, connective tissue or neurological disorders, neoplasia, infections, and certain drug side effects, among others. Orphanet ICD-10:I73.8 ICD-11:EG00 UMLS:C0543820 All ages United States AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529864 Secondary erythromelalgia ORPHA:529864 ICD-10:I73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EG00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0543820 E (Exact mapping: the two concepts are equivalent) Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported. Orphanet ICD-10:D31.6 ICD-11:2F36.Y UMLS:C4305000 Unknown Adult Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=52994 Orbital leiomyoma ORPHA:52994 ICD-10:D31.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F36.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305000 E (Exact mapping: the two concepts are equivalent) Del(17)(q24) A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders. Orphanet ICD-10:Q93.5 UMLS:C5680185 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529962 17q24.2 microdeletion syndrome ORPHA:529962 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680185 E (Exact mapping: the two concepts are equivalent) Pilarowski-Bjornsson syndrome A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated. Orphanet ICD-10:Q87.0 OMIM:617682 UMLS:C4540131 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome ORPHA:529965 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617682 E (Exact mapping: the two concepts are equivalent) UMLS:C4540131 E (Exact mapping: the two concepts are equivalent) Acephalic spermatozoa syndrome ICD-10:N46 OMIM:617187 OMIM:618112 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529970 Male infertility due to acephalic spermatozoa Clinical subtype ORPHA:529970 ICD-10:N46 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617187 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618112 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529974 Immune dysregulation with inflammatory bowel disease Clinical group ORPHA:529974 UMLS:C5681462 E (Exact mapping: the two concepts are equivalent) A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. Orphanet ICD-10:D89.8 OMIM:618108 UMLS:C5568533 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome ORPHA:529977 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618108 E (Exact mapping: the two concepts are equivalent) UMLS:C5568533 E (Exact mapping: the two concepts are equivalent) NFAT5 haploinsufficiency A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells. Orphanet ICD-10:D89.8 UMLS:C5568532 Infancy Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome ORPHA:529980 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568532 E (Exact mapping: the two concepts are equivalent) Osteopetrosis autosomal dominant type 2 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Orphanet ICD-10:Q78.2 ICD-11:LD24.10 OMIM:166600 UMLS:C3179239 Autosomal dominant Childhood Brazil AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 5.5 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53 Albers-Schönberg osteopetrosis ORPHA:53 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:166600 E (Exact mapping: the two concepts are equivalent) UMLS:C3179239 E (Exact mapping: the two concepts are equivalent) Hyalinosis cutis et mucosae Urbach-Wiethe disease Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. Orphanet ICD-10:E78.8 ICD-11:LD27.Y MeSH:D008065 OMIM:247100 UMLS:C0023795 Autosomal recessive All ages Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530 Lipoid proteinosis ORPHA:530 ICD-10:E78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008065 E (Exact mapping: the two concepts are equivalent) OMIM:247100 E (Exact mapping: the two concepts are equivalent) UMLS:C0023795 E (Exact mapping: the two concepts are equivalent) Dermoid or epidermoid cyst of the CNS A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis. Orphanet ICD-10:Q07.8 UMLS:C5680190 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530033 Dermoid or epidermoid cyst of the central nervous system ORPHA:530033 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680190 E (Exact mapping: the two concepts are equivalent) Early onset familial encephalopathy with neuroserpin inclusion bodies ICD-10:G31.8 UMLS:C5680144 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies Clinical subtype ORPHA:530298 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680144 E (Exact mapping: the two concepts are equivalent) Late-onset familial encephalopathy with neuroserpin inclusion bodies ICD-10:G31.8 OMIM:604218 UMLS:C5680143 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530303 Progressive dementia with neuroserpin inclusion bodies Clinical subtype ORPHA:530303 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604218 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680143 E (Exact mapping: the two concepts are equivalent) PROS MedDRA:10081236 UMLS:C4728213 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530313 PIK3CA-related overgrowth syndrome Clinical group ORPHA:530313 MedDRA:10081236 E (Exact mapping: the two concepts are equivalent) UMLS:C4728213 E (Exact mapping: the two concepts are equivalent) Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. Orphanet ICD-10:Q44.6 ICD-11:LB20.00 MeSH:D016767 MedDRA:10013003 OMIM:600643 Autosomal recessive Not applicable All ages Worldwide AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53035 Caroli disease ORPHA:53035 ICD-10:Q44.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB20.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016767 E (Exact mapping: the two concepts are equivalent) MedDRA:10013003 E (Exact mapping: the two concepts are equivalent) OMIM:600643 E (Exact mapping: the two concepts are equivalent) 17q25.1 FLJ12549 NUP75 Ensembl:ENSG00000125450 HGNC:8734 OMIM:170285 Reactome:Q9BW27 SwissProt:Q9BW27 NUP85 nucleoporin 85 12q23.2 FLJ22618 MGC5585 Ensembl:ENSG00000075188 HGNC:29929 OMIM:609264 Reactome:Q8NFH4 SwissProt:Q8NFH4 NUP37 nucleoporin 37 7q34 CaT1 Ensembl:ENSG00000165125 HGNC:14006 IUPHAR:512 OMIM:606680 SwissProt:Q9H1D0 TRPV6 transient receptor potential cation channel subfamily V member 6 Supratentorial C11ORF95-RELA fused ependymoma A rare ependymal tumor characterized by the presence of a <i>RELA</i> fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas. Orphanet ICD-10:D43.0 UMLS:C4289581 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530792 RELA fusion-positive ependymoma ORPHA:530792 ICD-10:D43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4289581 E (Exact mapping: the two concepts are equivalent) KRT1-related diffuse NEPPK A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. Orphanet ICD-10:Q82.8 OMIM:600962 UMLS:C5680142 Autosomal dominant Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530838 KRT1-related diffuse nonepidermolytic keratoderma ORPHA:530838 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:600962 E (Exact mapping: the two concepts are equivalent) UMLS:C5680142 E (Exact mapping: the two concepts are equivalent) Familial APOA5 deficiency Familial apolipoprotein A-V deficiency ICD-10:E78.3 OMIM:144650 UMLS:C5680141 Autosomal recessive Adult Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530849 Familial apolipoprotein A5 deficiency Etiological subtype ORPHA:530849 ICD-10:E78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:144650 E (Exact mapping: the two concepts are equivalent) UMLS:C5680141 E (Exact mapping: the two concepts are equivalent) SOX5 haploinsufficiency syndrome A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures. Orphanet ICD-10:Q87.8 OMIM:616803 UMLS:C4225202 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530983 Lamb-Shaffer syndrome ORPHA:530983 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616803 E (Exact mapping: the two concepts are equivalent) UMLS:C4225202 E (Exact mapping: the two concepts are equivalent) MPAL A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm. Orphanet ICD-10:C95.0 ICD-11:2A61 OMIM:601626 UMLS:C2826025 Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=530995 Mixed phenotype acute leukemia ORPHA:530995 ICD-10:C95.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2826025 E (Exact mapping: the two concepts are equivalent) Lissencephaly due to 17p13.3 deletion Monosomy 17p13.3 Telomeric deletion 17p Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MeSH:D054221 MedDRA:10068361 OMIM:247200 UMLS:C0265219 Autosomal dominant Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=531 Miller-Dieker syndrome ORPHA:531 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054221 E (Exact mapping: the two concepts are equivalent) MedDRA:10068361 E (Exact mapping: the two concepts are equivalent) OMIM:247200 E (Exact mapping: the two concepts are equivalent) UMLS:C0265219 E (Exact mapping: the two concepts are equivalent) A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. Orphanet ICD-10:Q93.5 UMLS:C5681312 Not applicable Childhood Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=531151 9q21.13 microdeletion syndrome ORPHA:531151 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681312 E (Exact mapping: the two concepts are equivalent) 1q42.13 Ensembl:ENSG00000143761 HGNC:652 OMIM:103180 Reactome:P84077 SwissProt:P84077 ARF1 ADP ribosylation factor 1 8q22.1 BARMR1 FLJ38979 Ensembl:ENSG00000188343 HGNC:30452 OMIM:617273 Reactome:A1XBS5 SwissProt:A1XBS5 CIBAR1 CBY1 interacting BAR domain containing 1 11p11.2 FLJ22583 KIAA0197 Nuclear pore complex protein Nup160 Ensembl:ENSG00000030066 HGNC:18017 OMIM:607614 Reactome:Q12769 SwissProt:Q12769 NUP160 nucleoporin 160 1q42.13 FLJ10814 Ensembl:ENSG00000069248 HGNC:18016 OMIM:607613 Reactome:Q8WUM0 SwissProt:Q8WUM0 NUP133 nucleoporin 133 2q32.1 FLJ34780 Ensembl:ENSG00000188738 HGNC:21675 OMIM:615796 SwissProt:Q5CZC0 FSIP2 fibrous sheath interacting protein 2 Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. Orphanet ICD-10:Q87.0 ICD-11:LD24.GY MeSH:C537369 MedDRA:10088781 OMIM:602849 UMLS:C1864436 Autosomal dominant Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 3.33 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53271 Muenke syndrome ORPHA:53271 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537369 E (Exact mapping: the two concepts are equivalent) MedDRA:10088781 E (Exact mapping: the two concepts are equivalent) OMIM:602849 E (Exact mapping: the two concepts are equivalent) UMLS:C1864436 E (Exact mapping: the two concepts are equivalent) Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. Orphanet ICD-10:L94.8 ICD-11:LC2Y MeSH:C562925 OMIM:115250 UMLS:C0406817 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53296 Familial cutaneous collagenoma ORPHA:53296 ICD-10:L94.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562925 E (Exact mapping: the two concepts are equivalent) OMIM:115250 E (Exact mapping: the two concepts are equivalent) UMLS:C0406817 E (Exact mapping: the two concepts are equivalent) Listeria infection A rare bacterial infectious disease caused by the foodborne pathogen <i>Listeria monocytogenes</i>, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child. Orphanet ICD-10:A32.0 ICD-10:A32.1 ICD-10:A32.7 ICD-10:A32.8 ICD-10:A32.9 ICD-11:1C1A ICD-11:1C1A.0 ICD-11:1C1A.1 ICD-11:1C1A.Y MeSH:D008088 MedDRA:10024641 UMLS:C0023860 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 1.07 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Cyprus AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Denmark AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.43 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.57 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.68 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.28 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.56 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.29 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.28 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.47 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.46 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.23 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.29 AND has_annual_incidence_range : 1-9 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.67 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.92 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.337 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=533 Listeriosis ORPHA:533 ICD-10:A32.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A32.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A32.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A32.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A32.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1A.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1A.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1A.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008088 E (Exact mapping: the two concepts are equivalent) MedDRA:10024641 E (Exact mapping: the two concepts are equivalent) UMLS:C0023860 E (Exact mapping: the two concepts are equivalent) A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without <i>ATP2A1</i> mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common. Orphanet ICD-10:G71.8 ICD-11:8C7Y MeSH:C536607 OMIM:601003 UMLS:C1832918 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53347 Brody myopathy ORPHA:53347 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536607 E (Exact mapping: the two concepts are equivalent) OMIM:601003 E (Exact mapping: the two concepts are equivalent) UMLS:C1832918 E (Exact mapping: the two concepts are equivalent) DYT3 Lubag Lubag syndrome XDP X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. Orphanet ICD-10:G24.1 ICD-11:8A00.20 MeSH:C564048 OMIM:314250 UMLS:C1839130 Not applicable X-linked recessive Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 Philippines AND has_point_prevalence_average_value : 0.31 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53351 X-linked dystonia-parkinsonism ORPHA:53351 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564048 E (Exact mapping: the two concepts are equivalent) OMIM:314250 E (Exact mapping: the two concepts are equivalent) UMLS:C1839130 E (Exact mapping: the two concepts are equivalent) Familial trembling of the chin Hereditary chin myoclonus Hereditary chin-trembling A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may present more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported. Orphanet ICD-10:G25.3 MeSH:C537682 OMIM:190100 UMLS:C2931589 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53372 Hereditary geniospasm ORPHA:53372 ICD-10:G25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537682 E (Exact mapping: the two concepts are equivalent) OMIM:190100 E (Exact mapping: the two concepts are equivalent) UMLS:C2931589 E (Exact mapping: the two concepts are equivalent) Lowe disease Lowe oculo-cerebro-renal dystrophy Lowe oculo-cerebro-renal syndrome Lowe oculocerebrorenal dystrophy Lowe syndrome OCRL Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. Orphanet ICD-10:E72.0 ICD-11:5C60.0 MeSH:D009800 MedDRA:10051707 OMIM:309000 UMLS:C0028860 X-linked recessive Neonatal Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=534 Oculocerebrorenal syndrome of Lowe ORPHA:534 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009800 E (Exact mapping: the two concepts are equivalent) MedDRA:10051707 E (Exact mapping: the two concepts are equivalent) OMIM:309000 E (Exact mapping: the two concepts are equivalent) UMLS:C0028860 E (Exact mapping: the two concepts are equivalent) Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). Orphanet MedDRA:10056509 UMLS:C5680424 Multigenic/multifactorial All ages Europe AND has_point_prevalence_average_value : 50.0 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 4.3 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 73.0 AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=535 Rare cutaneous lupus erythematosus Clinical group ORPHA:535 MedDRA:10056509 E (Exact mapping: the two concepts are equivalent) UMLS:C5680424 E (Exact mapping: the two concepts are equivalent) 13q14.3 TMTSP Ensembl:ENSG00000136114 HGNC:17754 OMIM:616821 Reactome:Q9NS62 SwissProt:Q9NS62 THSD1 thrombospondin type 1 domain containing 1 2q36.1 FRSB PheHB phenylalanine tRNA ligase 1, beta, cytoplasmic Ensembl:ENSG00000116120 HGNC:17800 OMIM:609690 Reactome:Q9NSD9 SwissProt:Q9NSD9 FARSB phenylalanyl-tRNA synthetase subunit beta 10q24.2 ARHGEF36 KIAA1010 Tuba scaffold protein TUBA Ensembl:ENSG00000107554 HGNC:30373 OMIM:611282 Reactome:Q6XZF7 SwissProt:Q6XZF7 DNMBP dynamin binding protein 17q25.3 Eros FLJ90469 MGC4368 Ensembl:ENSG00000178927 HGNC:28672 OMIM:618334 Reactome:Q9BQA9 SwissProt:Q9BQA9 CYBC1 cytochrome b-245 chaperone 1 11p15.5 DKFZp761L1518 DNAAF12 FLJ00101 dynein axonemal assembly factor 12 oda8 Ensembl:ENSG00000161328 HGNC:25430 OMIM:618227 SwissProt:Q8IYG6 LRRC56 leucine rich repeat containing 56 22q13.2 MGC40042 SPATA38 spermatogenesis associated 38 Ensembl:ENSG00000167077 HGNC:28613 OMIM:608797 SwissProt:Q5TIA1 MEI1 meiotic double-stranded break formation protein 1 11q13.2 FLJ22531 TOPOVIBL Ensembl:ENSG00000173715 HGNC:26197 OMIM:616109 SwissProt:Q8N6T0 TOP6BL TOP6B like initiator of meiotic double strand breaks 6p24.1 KIAA1733 dJ257A7.2 Ensembl:ENSG00000112137 HGNC:20990 OMIM:608723 SwissProt:Q9C0D0 PHACTR1 phosphatase and actin regulator 1 Enhanced S-cone syndrome Retinoschisis with early nyctalopia Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C564835 OMIM:268100 UMLS:C0339541 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53540 Goldmann-Favre syndrome ORPHA:53540 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564835 E (Exact mapping: the two concepts are equivalent) OMIM:268100 E (Exact mapping: the two concepts are equivalent) UMLS:C0339541 E (Exact mapping: the two concepts are equivalent) Familial LMF1 deficiency ICD-10:E78.3 OMIM:246650 Autosomal recessive Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=535453 Familial lipase maturation factor 1 deficiency Etiological subtype ORPHA:535453 ICD-10:E78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:246650 E (Exact mapping: the two concepts are equivalent) Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency ICD-10:E78.3 OMIM:615947 Autosomal recessive Adult Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=535458 Familial GPIHBP1 deficiency Etiological subtype ORPHA:535458 ICD-10:E78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615947 E (Exact mapping: the two concepts are equivalent) 8q24.3 GAA1 GPI transamidase subunit hGAA1 Ensembl:ENSG00000197858 HGNC:4446 OMIM:603048 Reactome:O43292 SwissProt:O43292 GPAA1 glycosylphosphatidylinositol anchor attachment 1 16q22.2 Ensembl:ENSG00000118557 HGNC:17728 OMIM:618085 Reactome:Q8TBY8 SwissProt:Q8TBY8 PMFBP1 polyamine modulated factor 1 binding protein 1 20q11.21 TSARG4 dJ726C3.1 testis and spermatogenesis related gene 4 Ensembl:ENSG00000167098 HGNC:16252 OMIM:613942 SwissProt:Q8TC36 SUN5 Sad1 and UNC84 domain containing 5 17q24.2 FAC1 NURF301 Ensembl:ENSG00000171634 HGNC:3581 IUPHAR:2723 OMIM:601819 Reactome:Q12830 SwissProt:Q12830 BPTF bromodomain PHD finger transcription factor DYT9 Episodic choreoathetosis/spasticity A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age. Orphanet ICD-10:G24.8 ICD-11:8A02.2 MeSH:C563401 OMIM:601042 UMLS:C1832855 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity ORPHA:53583 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563401 E (Exact mapping: the two concepts are equivalent) OMIM:601042 E (Exact mapping: the two concepts are equivalent) UMLS:C1832855 E (Exact mapping: the two concepts are equivalent) 17q24.2 Rpn5 p55 Ensembl:ENSG00000197170 HGNC:9557 OMIM:604450 Reactome:O00232 SwissProt:O00232 PSMD12 proteasome 26S subunit, non-ATPase 12 19q13.2 CPA6 CYP2A Ensembl:ENSG00000255974 HGNC:2610 IUPHAR:1321 OMIM:122720 Reactome:P11509 SwissProt:P11509 CYP2A6 cytochrome P450 family 2 subfamily A member 6 Disseminated lupus erythematosus SLE ICD-10:M32.0 ICD-10:M32.1 ICD-10:M32.8 ICD-10:M32.9 ICD-11:4A40.0 MeSH:D008180 MedDRA:10042945 OMIM:301080 OMIM:614420 UMLS:C0024141 Not applicable Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 28.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 47.0 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_point_prevalence_average_value : 20.6 AND has_point_prevalence_range : 1-5 / 10 000 Martinique AND has_point_prevalence_average_value : 64.2 AND has_point_prevalence_range : 6-9 / 10 000 New Zealand AND has_point_prevalence_average_value : 14.7 AND has_point_prevalence_range : 1-5 / 10 000 Poland AND has_annual_incidence_average_value : 81.84 AND has_annual_incidence_range : 6-9 / 10 000 Taiwan, Province of China AND has_point_prevalence_average_value : 37.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 53.6 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 5.14 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 43.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=536 Systemic lupus erythematosus ORPHA:536 ICD-10:M32.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:M32.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:M32.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:M32.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A40.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008180 E (Exact mapping: the two concepts are equivalent) MedDRA:10042945 E (Exact mapping: the two concepts are equivalent) OMIM:301080 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614420 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024141 E (Exact mapping: the two concepts are equivalent) UMLS:C5555857 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=536391 RASopathy Category ORPHA:536391 UMLS:C5555857 E (Exact mapping: the two concepts are equivalent) B3GALT6-related spEDS B3GALT6-related spondylodysplastic EDS Beta3GalT6-deficient EDS Ehlers-Danlos syndrome progeroid type 2 spEDS-B3GALT6 A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B3GALT6</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:615349 UMLS:C3809210 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 41.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype ORPHA:536467 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615349 E (Exact mapping: the two concepts are equivalent) UMLS:C3809210 E (Exact mapping: the two concepts are equivalent) Spondylodysplastic EDS spEDS A rare connective tissue disorder for which three subtypes exist, either related to the gene <i>B4GALT7</i>, <i>B3GALT6</i> or <i>SLC39A13</i>, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:130070 OMIM:612350 OMIM:615349 UMLS:C5680154 Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=536471 Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:130070 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615349 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680154 E (Exact mapping: the two concepts are equivalent) EDS/myopathy overlap syndrome Myopathic EDS A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:616471 UMLS:C5680153 Autosomal dominant Autosomal recessive Adult Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=536516 Myopathic Ehlers-Danlos syndrome ORPHA:536516 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616471 E (Exact mapping: the two concepts are equivalent) UMLS:C5680153 E (Exact mapping: the two concepts are equivalent) AEBP1-related EDS AEBP1-related Ehlers-Danlos syndrome Classical-like EDS type 2 clEDS type 2 A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Orphanet ICD-10:Q79.6 OMIM:618000 UMLS:C4693870 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=536532 Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618000 E (Exact mapping: the two concepts are equivalent) UMLS:C4693870 E (Exact mapping: the two concepts are equivalent) EDS VI Ehlers-Danlos syndrome type 6 Kyphoscoliotic EDS kEDS A rare systemic disease for which two subtypes exist, either related to the gene <i>PLOD1</i> or <i>FKBP22</i>, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:C536198 UMLS:C4551497 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=536545 Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536198 E (Exact mapping: the two concepts are equivalent) UMLS:C4551497 E (Exact mapping: the two concepts are equivalent) A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops. Orphanet ICD-10:K90.8 ICD-11:DA90.1 MeSH:C536210 OMIM:214700 UMLS:C0267662 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53689 Congenital chloride diarrhea ORPHA:53689 ICD-10:K90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536210 E (Exact mapping: the two concepts are equivalent) OMIM:214700 E (Exact mapping: the two concepts are equivalent) UMLS:C0267662 E (Exact mapping: the two concepts are equivalent) Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. Orphanet ICD-10:E73.0 ICD-11:5C61.61 MeSH:C562600 MedDRA:10086148 OMIM:223000 UMLS:C0268179 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53690 Congenital lactase deficiency ORPHA:53690 ICD-10:E73.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C61.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562600 E (Exact mapping: the two concepts are equivalent) MedDRA:10086148 E (Exact mapping: the two concepts are equivalent) OMIM:223000 E (Exact mapping: the two concepts are equivalent) UMLS:C0268179 E (Exact mapping: the two concepts are equivalent) A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies. Orphanet ICD-10:Q13.4 ICD-11:LA11.1 OMIM:121400 OMIM:217300 UMLS:C0344529 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53691 Congenital cornea plana ORPHA:53691 ICD-10:Q13.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:121400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:217300 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0344529 E (Exact mapping: the two concepts are equivalent) Fellman disease Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). Orphanet ICD-10:E88.8 ICD-11:5C53.2Y MeSH:C537934 MedDRA:10081684 OMIM:603358 UMLS:C1864002 Autosomal recessive Antenatal Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53693 GRACILE syndrome ORPHA:53693 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537934 E (Exact mapping: the two concepts are equivalent) MedDRA:10081684 E (Exact mapping: the two concepts are equivalent) OMIM:603358 E (Exact mapping: the two concepts are equivalent) UMLS:C1864002 E (Exact mapping: the two concepts are equivalent) AAHD Vuopala disease A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech. Orphanet ICD-10:Q68.8 ICD-11:LD2F.1Y OMIM:611890 UMLS:C2678471 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53696 Arthrogryposis-anterior horn cell disease syndrome ORPHA:53696 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:611890 E (Exact mapping: the two concepts are equivalent) UMLS:C2678471 E (Exact mapping: the two concepts are equivalent) GDD Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. Orphanet ICD-10:M85.8 ICD-11:LD24.2Y OMIM:166260 UMLS:C1833736 Autosomal dominant Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53697 Gnathodiaphyseal dysplasia ORPHA:53697 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:166260 E (Exact mapping: the two concepts are equivalent) UMLS:C1833736 E (Exact mapping: the two concepts are equivalent) Hyaline body myopathy A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers. Orphanet ICD-10:G71.2 ICD-11:8C72.0Y MeSH:C564253 OMIM:255160 OMIM:608358 UMLS:C5681316 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53698 Myosin storage myopathy ORPHA:53698 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564253 E (Exact mapping: the two concepts are equivalent) OMIM:255160 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608358 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681316 E (Exact mapping: the two concepts are equivalent) Lyell syndrome An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving 30% or more of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent. Orphanet ICD-10:L51.2 ICD-11:EB13.1 MedDRA:10044223 UMLS:C0014518 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=537 Toxic epidermal necrolysis Clinical subtype ORPHA:537 ICD-10:L51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EB13.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10044223 E (Exact mapping: the two concepts are equivalent) UMLS:C0014518 E (Exact mapping: the two concepts are equivalent) PLG-related HAE with normal C1 inhibitor ICD-10:T78.3 ICD-11:4A00.14 UMLS:C5680155 Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 105.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=537072 PLG-related hereditary angioedema with normal C1Inh Clinical subtype ORPHA:537072 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680155 E (Exact mapping: the two concepts are equivalent) A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. Orphanet ICD-10:M11.2 ICD-11:5C64.5 MedDRA:10059364 OMIM:211900 OMIM:610455 UMLS:C0263628 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53715 Familial tumoral calcinosis ORPHA:53715 ICD-10:M11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10059364 E (Exact mapping: the two concepts are equivalent) OMIM:211900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610455 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0263628 E (Exact mapping: the two concepts are equivalent) Bonnet-Dechaume-Blanc syndrome CAMS2 Cerebrofacial arteriovenous metameric syndrome type 2 Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. Orphanet ICD-10:Q28.2 ICD-11:LA90.3Y MeSH:C536752 MedDRA:10048661 UMLS:C0265321 Not applicable Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 90.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53719 Wyburn-Mason syndrome ORPHA:53719 ICD-10:Q28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536752 E (Exact mapping: the two concepts are equivalent) MedDRA:10048661 E (Exact mapping: the two concepts are equivalent) UMLS:C0265321 E (Exact mapping: the two concepts are equivalent) Cobb syndrome Cutaneomeningospinal angiomatosis SAMS 1-31 Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. Orphanet ICD-10:Q27.3 ICD-11:LA90.3Y MedDRA:10068841 UMLS:C0346068 Not applicable All ages Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53721 Spinal arteriovenous metameric syndrome ORPHA:53721 ICD-10:Q27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10068841 E (Exact mapping: the two concepts are equivalent) UMLS:C0346068 E (Exact mapping: the two concepts are equivalent) Distal spinal muscular atrophy dHMN dSMA UMLS:C0393541 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=53739 Distal hereditary motor neuropathy Clinical group ORPHA:53739 UMLS:C0393541 E (Exact mapping: the two concepts are equivalent) OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary angioedema with normal C1Inh not related to F12 or PLG variant OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh ORPHA:537891 LAM A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). Orphanet ICD-10:D48.7 ICD-11:CB07 MeSH:D018192 MedDRA:10049459 OMIM:606690 UMLS:C0751674 Not applicable Adult Australia AND has_point_prevalence_average_value : 0.26 AND has_point_prevalence_range : 1-9 / 1 000 000 Canada AND has_point_prevalence_average_value : 0.21 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.19 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 New Zealand AND has_point_prevalence_average_value : 0.39 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_point_prevalence_average_value : 0.32 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.0135 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538 Lymphangioleiomyomatosis ORPHA:538 ICD-10:D48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB07 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018192 E (Exact mapping: the two concepts are equivalent) MedDRA:10049459 E (Exact mapping: the two concepts are equivalent) OMIM:606690 E (Exact mapping: the two concepts are equivalent) UMLS:C0751674 E (Exact mapping: the two concepts are equivalent) A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. Orphanet ICD-10:G60.0 MeSH:C565773 OMIM:604431 UMLS:C1858353 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy ORPHA:538096 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565773 E (Exact mapping: the two concepts are equivalent) OMIM:604431 E (Exact mapping: the two concepts are equivalent) UMLS:C1858353 E (Exact mapping: the two concepts are equivalent) A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. Orphanet ICD-10:G60.0 UMLS:C5681314 Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538101 Congenital axonal neuropathy with encephalopathy ORPHA:538101 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681314 E (Exact mapping: the two concepts are equivalent) UMLS:C5681315 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538238 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect Category ORPHA:538238 UMLS:C5681315 E (Exact mapping: the two concepts are equivalent) 6q23.3 KCP1 KRTCAP1 PIGPC1 THW dJ496H19.1 keratinocyte associated protein 1 Ensembl:ENSG00000112378 HGNC:17637 OMIM:609301 Reactome:Q96FX8 SwissProt:Q96FX8 PERP p53 apoptosis effector related to PMP22 Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near&#8208;normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy. Orphanet ICD-10:G60.0 OMIM:148360 UMLS:C1835671 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome ORPHA:538574 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:148360 E (Exact mapping: the two concepts are equivalent) UMLS:C1835671 E (Exact mapping: the two concepts are equivalent) 16p12.3 S15A uS8 Ensembl:ENSG00000134419 HGNC:10389 OMIM:603674 Reactome:P62244 SwissProt:P62244 RPS15A ribosomal protein S15a 8q21.13 IL-7 Ensembl:ENSG00000104432 HGNC:6023 IUPHAR:4999 OMIM:146660 Reactome:P13232 SwissProt:P13232 IL7 interleukin 7 Familial multiple trichodiscomas A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or <i>FLCN</i> gene locus mutation. Orphanet ICD-10:D23.9 MeSH:C536847 OMIM:190340 UMLS:C1860850 Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 44.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538756 Familial multiple discoid fibromas ORPHA:538756 ICD-10:D23.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536847 E (Exact mapping: the two concepts are equivalent) OMIM:190340 E (Exact mapping: the two concepts are equivalent) UMLS:C1860850 E (Exact mapping: the two concepts are equivalent) Ulcerative pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated. Orphanet ICD-10:L88 ICD-11:EB21 UMLS:C5680157 Adolescent Adult Childhood Elderly Italy AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538863 Classic pyoderma gangrenosum Clinical subtype ORPHA:538863 ICD-10:L88 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680157 E (Exact mapping: the two concepts are equivalent) A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease. Orphanet ICD-10:L88 ICD-11:EB21 UMLS:C5681317 Adolescent Adult Childhood Elderly Italy AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538866 Pustular pyoderma gangrenosum Clinical subtype ORPHA:538866 ICD-10:L88 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681317 E (Exact mapping: the two concepts are equivalent) Phemphigoid pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised. Orphanet ICD-10:L88 ICD-11:EB21 UMLS:C0406687 Adolescent Adult Childhood Elderly Italy AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538869 Bullous pyoderma gangrenosum Clinical subtype ORPHA:538869 ICD-10:L88 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406687 E (Exact mapping: the two concepts are equivalent) Granulomatous pyoderma gangrenosum A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum. Orphanet ICD-10:L88 ICD-11:EB21 UMLS:C5680158 Adolescent Adult Childhood Elderly Italy AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538872 Vegetative pyoderma gangrenosum Clinical subtype ORPHA:538872 ICD-10:L88 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680158 E (Exact mapping: the two concepts are equivalent) X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency X-linked lymphoproliferative syndrome type 1 XLP1 A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked <i>SH2D1A</i> gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. Orphanet ICD-10:D82.3 ICD-11:4A01.22 OMIM:308240 UMLS:C5399825 X-linked recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538931 X-linked lymphoproliferative disease due to SAP deficiency ORPHA:538931 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:308240 E (Exact mapping: the two concepts are equivalent) UMLS:C5399825 E (Exact mapping: the two concepts are equivalent) X-linked lymphoproliferative syndrome type 2 XIAP deficiency syndrome XLP2 A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked <i>XIAP</i> gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells. Orphanet ICD-10:D82.3 ICD-11:4A01.22 MeSH:C564469 OMIM:300635 UMLS:C1845076 X-linked recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538934 X-linked lymphoproliferative disease due to XIAP deficiency ORPHA:538934 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A01.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564469 E (Exact mapping: the two concepts are equivalent) OMIM:300635 E (Exact mapping: the two concepts are equivalent) UMLS:C1845076 E (Exact mapping: the two concepts are equivalent) CID due to CD70 deficiency A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis. Orphanet ICD-10:D82.3 OMIM:618261 UMLS:C5568559 Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538958 Combined immunodeficiency due to CD70 deficiency ORPHA:538958 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618261 E (Exact mapping: the two concepts are equivalent) UMLS:C5568559 E (Exact mapping: the two concepts are equivalent) Autosomal recessive lymphoproliferative disease due to ITK deficiency ITK deficiency A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease. Orphanet ICD-10:D82.3 OMIM:613011 UMLS:C3552634 Adolescent Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=538963 Combined immunodeficiency due to ITK deficiency ORPHA:538963 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613011 E (Exact mapping: the two concepts are equivalent) UMLS:C3552634 E (Exact mapping: the two concepts are equivalent) OA1 Ocular albinism type 1 Ocular albinism, Nettleship-Falls type XLOA X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. Orphanet ICD-10:E70.3 ICD-11:9E1Y MeSH:C537863 OMIM:300500 UMLS:C0342684 X-linked recessive Infancy Neonatal Denmark AND has_birth_prevalence_average_value : 0.84 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.58 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54 X-linked recessive ocular albinism ORPHA:54 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9E1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537863 E (Exact mapping: the two concepts are equivalent) OMIM:300500 E (Exact mapping: the two concepts are equivalent) UMLS:C0342684 E (Exact mapping: the two concepts are equivalent) Familial HLH Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth. Orphanet ICD-10:D76.1 ICD-11:4A01.23 MedDRA:10070904 OMIM:267700 OMIM:603552 OMIM:603553 OMIM:608898 OMIM:613101 OMIM:618998 UMLS:C0272199 Autosomal recessive Adolescent Infancy China AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=540 Familial hemophagocytic lymphohistiocytosis ORPHA:540 ICD-10:D76.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10070904 E (Exact mapping: the two concepts are equivalent) OMIM:267700 E (Exact mapping: the two concepts are equivalent) OMIM:603552 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603553 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608898 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613101 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618998 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0272199 E (Exact mapping: the two concepts are equivalent) Kelly-Paterson syndrome Sideropenic dysphagia Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Orphanet ICD-10:D50.1 ICD-11:3A00.Y MeSH:D011004 MedDRA:10040664 UMLS:C0032249 Unknown Adult Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54028 Plummer-Vinson syndrome ORPHA:54028 ICD-10:D50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011004 E (Exact mapping: the two concepts are equivalent) MedDRA:10040664 E (Exact mapping: the two concepts are equivalent) UMLS:C0032249 E (Exact mapping: the two concepts are equivalent) Moschcowitz disease TTP An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form. Orphanet ICD-10:M31.1 ICD-11:3B64.14 MeSH:D011697 MedDRA:10043648 OMIM:274150 UMLS:C0034155 Autosomal recessive Multigenic/multifactorial All ages Worldwide AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54057 Thrombotic thrombocytopenic purpura ORPHA:54057 ICD-10:M31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3B64.14 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011697 E (Exact mapping: the two concepts are equivalent) MedDRA:10043648 E (Exact mapping: the two concepts are equivalent) OMIM:274150 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0034155 E (Exact mapping: the two concepts are equivalent) Primary cutaneous Ki-1+ T-cell lymphoproliferative disease ICD-10:C86.6 ICD-11:2B03 UMLS:C5679826 Adult Europe AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=541 Primary cutaneous CD30+ T-cell lymphoproliferative disease Clinical group ORPHA:541 ICD-10:C86.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5679826 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. Orphanet ICD-10:K76.8 OMIM:617093 UMLS:C5568558 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=541423 Growth delay-intellectual disability-hepatopathy syndrome ORPHA:541423 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617093 E (Exact mapping: the two concepts are equivalent) UMLS:C5568558 E (Exact mapping: the two concepts are equivalent) AOLCA L-ACAOS Left coronary artery from right aortic sinus A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. Orphanet ICD-10:Q24.5 UMLS:C5680161 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=541443 Anomalous aortic origin of the left coronary artery ORPHA:541443 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680161 E (Exact mapping: the two concepts are equivalent) AORCA R-ACAOS Right coronary artery from left aortic sinus A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. Orphanet ICD-10:Q24.5 UMLS:C5680160 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=541454 Anomalous aortic origin of the right coronary artery ORPHA:541454 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680160 E (Exact mapping: the two concepts are equivalent) AAOCA A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. Orphanet UMLS:C5680159 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=541478 Anomalous aortic origin of coronary artery Clinical group ORPHA:541478 UMLS:C5680159 E (Exact mapping: the two concepts are equivalent) ACAPA A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. Orphanet ICD-10:Q24.5 ICD-11:LA8C.0 UMLS:C4023252 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=541507 Anomalous origin of coronary artery from the pulmonary artery ORPHA:541507 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8C.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4023252 E (Exact mapping: the two concepts are equivalent) 17p12 DNAL1 DYH9 Dnahc9 HL-20 HL20 KIAA0357 Ensembl:ENSG00000007174 HGNC:2953 OMIM:603330 SwissProt:Q9NYC9 DNAH9 dynein axonemal heavy chain 9 10q24.32 E3 ubiquitin-protein ligase TRIM8 GERP glioblastoma expressed ring finger protein Ensembl:ENSG00000171206 HGNC:15579 OMIM:606125 Reactome:Q9BZR9 SwissProt:Q9BZR9 TRIM8 tripartite motif containing 8 3p14.1 KIAA1312 Ensembl:ENSG00000163638 HGNC:13202 IUPHAR:1682 OMIM:605421 Reactome:Q9P2N4 SwissProt:Q9P2N4 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 5q31.3 VE-cadherin-2 Ensembl:ENSG00000113555 HGNC:8657 OMIM:605622 SwissProt:Q9NPG4 PCDH12 protocadherin 12 5q33.3 CD366 FLJ14428 T-cell immunoglobulin mucin family member 3 TIM3 TIMD3 Tim-3 Ensembl:ENSG00000135077 HGNC:18437 IUPHAR:2940 OMIM:606652 Reactome:Q8TDQ0 SwissProt:Q8TDQ0 HAVCR2 hepatitis A virus cellular receptor 2 17p13.2 MGC8530 Ensembl:ENSG00000108559 HGNC:8067 OMIM:602552 Reactome:Q99567 SwissProt:Q99567 NUP88 nucleoporin 88 A group of rare primary organ-specific lymphoma characterized by heterogeneous T-cell and B-cell non-Hodgkin lymphomas present in the skin. Clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy are highly variable between the entities belong to this group. Orphanet MedDRA:10051708 UMLS:C1302772 Europe AND has_annual_incidence_average_value : 0.75 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542 Primary cutaneous lymphoma Category ORPHA:542 MedDRA:10051708 E (Exact mapping: the two concepts are equivalent) UMLS:C1302772 E (Exact mapping: the two concepts are equivalent) Combined immunodeficiency due to RLTPR deficiency A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells. Orphanet ICD-10:D82.3 OMIM:618131 UMLS:C5568557 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542301 Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618131 E (Exact mapping: the two concepts are equivalent) UMLS:C5568557 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable. Orphanet ICD-10:I49.8 OMIM:617173 OMIM:617182 UMLS:C5568877 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome ORPHA:542306 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617173 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617182 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5568877 E (Exact mapping: the two concepts are equivalent) LCC Labrune syndrome A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. Orphanet ICD-10:I67.8 MeSH:C000598644 MedDRA:10084766 OMIM:614561 UMLS:C3281200 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542310 Leukoencephalopathy with calcifications and cysts ORPHA:542310 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000598644 E (Exact mapping: the two concepts are equivalent) MedDRA:10084766 E (Exact mapping: the two concepts are equivalent) OMIM:614561 E (Exact mapping: the two concepts are equivalent) UMLS:C3281200 E (Exact mapping: the two concepts are equivalent) CAR T cell therapy-associated CRS Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS). Orphanet ICD-10:D89.8 UMLS:C5680162 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542323 CAR T cell therapy-associated cytokine release syndrome ORPHA:542323 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680162 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Myotonic dystrophy type 3 ORPHA:54238 Benson syndrome Biparietal Alzheimer disease PCA A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions. Orphanet ICD-10:G31.1 ICD-11:8A21.0 MedDRA:10078207 UMLS:C4275079 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54247 Posterior cortical atrophy ORPHA:54247 ICD-10:G31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10078207 E (Exact mapping: the two concepts are equivalent) UMLS:C4275079 E (Exact mapping: the two concepts are equivalent) Aseptic abscesses syndrome Aseptic systemic abscesses Corticosteroid-sensitive aseptic abscess syndrome Disseminated aseptic abscesses A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses. Orphanet ICD-10:D89.8 UMLS:C4303863 Not applicable Adolescent Adult Worldwide AND has_cases/families_value : 49.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54251 Aseptic abscess syndrome ORPHA:54251 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303863 E (Exact mapping: the two concepts are equivalent) A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. Orphanet ICD-10:Q23.8 MeSH:D000082902 UMLS:C0345002 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542568 Quadricuspid aortic valve ORPHA:542568 ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D000082902 E (Exact mapping: the two concepts are equivalent) UMLS:C0345002 E (Exact mapping: the two concepts are equivalent) A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. Orphanet ICD-10:E88.8 OMIM:617717 UMLS:C4521678 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542585 Auditory neuropathy-optic atrophy syndrome ORPHA:542585 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617717 E (Exact mapping: the two concepts are equivalent) UMLS:C4521678 E (Exact mapping: the two concepts are equivalent) Oppenheim-Urbach disease A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus. Orphanet ICD-10:L92.1 ICD-11:EE80.1 MeSH:D009335 UMLS:C0027538 Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542592 Necrobiosis lipoidica ORPHA:542592 ICD-10:L92.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EE80.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009335 E (Exact mapping: the two concepts are equivalent) UMLS:C0027538 E (Exact mapping: the two concepts are equivalent) LVNC Left ventricular hypertrabeculation Spongy myocardium A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events. Orphanet ICD-10:I42.8 ICD-11:BC44 OMIM:601493 OMIM:601494 OMIM:604169 OMIM:609470 OMIM:611878 OMIM:613424 OMIM:613426 OMIM:615092 OMIM:615373 OMIM:615396 UMLS:C1960469 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54260 Left ventricular noncompaction ORPHA:54260 ICD-10:I42.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601493 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:601494 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:604169 E (Exact mapping: the two concepts are equivalent) OMIM:609470 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611878 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613424 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613426 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615092 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615373 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615396 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1960469 E (Exact mapping: the two concepts are equivalent) Livedo reticularis with summer ulcerations Milian atrophie blanche Segmental hyalinizing vasculitis A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist. Orphanet ICD-10:L95.0 ICD-11:EF50 MeSH:D000090122 UMLS:C0343081 Adolescent Adult United States AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542643 Livedoid vasculopathy ORPHA:542643 ICD-10:L95.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EF50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000090122 E (Exact mapping: the two concepts are equivalent) UMLS:C0343081 E (Exact mapping: the two concepts are equivalent) Carbonic anhydrase XII deficiency A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations. Orphanet ICD-10:L98.8 OMIM:143860 UMLS:C1840437 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542657 Isolated hyperchlorhidrosis ORPHA:542657 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:143860 E (Exact mapping: the two concepts are equivalent) UMLS:C1840437 E (Exact mapping: the two concepts are equivalent) Hepatocellular adenoma (HA) is a rare benign tumor of the liver. Orphanet ICD-10:D13.4 ICD-11:2E92.7 ICD-11:XH68V1 MeSH:D018248 MedDRA:10019827 UMLS:C0206669 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54272 Hepatocellular adenoma ORPHA:54272 ICD-10:D13.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH68V1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018248 E (Exact mapping: the two concepts are equivalent) MedDRA:10019827 E (Exact mapping: the two concepts are equivalent) UMLS:C0206669 E (Exact mapping: the two concepts are equivalent) A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. Orphanet UMLS:C5681322 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=542822 Anomaly of the coronary ostia Clinical group ORPHA:542822 UMLS:C5681322 E (Exact mapping: the two concepts are equivalent) Small non-cleaved cell lymphoma Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. Orphanet ICD-10:C83.7 ICD-10:C91.8 ICD-11:2A85.6 ICD-11:XH4KA9 MeSH:D002051 MedDRA:10006595 OMIM:113970 UMLS:C0006413 Not applicable All ages Africa AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=543 Burkitt lymphoma ORPHA:543 ICD-10:C83.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C91.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A85.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH4KA9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002051 E (Exact mapping: the two concepts are equivalent) MedDRA:10006595 E (Exact mapping: the two concepts are equivalent) OMIM:113970 E (Exact mapping: the two concepts are equivalent) UMLS:C0006413 E (Exact mapping: the two concepts are equivalent) 3q25.32 BM-011 MGC12197 SFRS21 SRrp53 splicing factor, arginine/serine-rich 21 Ensembl:ENSG00000174891 HGNC:24152 OMIM:613352 SwissProt:Q96IZ7 RSRC1 arginine and serine rich coiled-coil 1 7p13 ACLP adipocyte enhancer binding protein 1 aortic carboxypeptidase-like protein Ensembl:ENSG00000106624 HGNC:303 IUPHAR:1586 OMIM:602981 SwissProt:Q8IUX7 AEBP1 AE binding protein 1 8q23.1 AGPT-1 Ang1 KIAA0003 Ensembl:ENSG00000154188 HGNC:484 IUPHAR:4867 OMIM:601667 Reactome:Q15389 SwissProt:Q15389 ANGPT1 angiopoietin 1 A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. Orphanet ICD-10:E88.8 UMLS:C5681321 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681321 E (Exact mapping: the two concepts are equivalent) Sarcosporidiosis A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course. Orphanet ICD-10:A07.8 ICD-11:1A34 MeSH:D012523 MedDRA:10039483 UMLS:C0036231 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54368 Sarcocystosis ORPHA:54368 ICD-10:A07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1A34 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012523 E (Exact mapping: the two concepts are equivalent) MedDRA:10039483 E (Exact mapping: the two concepts are equivalent) UMLS:C0036231 E (Exact mapping: the two concepts are equivalent) Mesangiocapillary glomerulonephritis Primary MPGN A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded. Orphanet ICD-10:N03.5 ICD-11:MF8Y MeSH:D015432 MedDRA:10018370 OMIM:305800 OMIM:609814 OMIM:614809 OMIM:615008 UMLS:C0017662 Not applicable Adult Europe AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54370 Primary membranoproliferative glomerulonephritis ORPHA:54370 ICD-10:N03.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:MF8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015432 E (Exact mapping: the two concepts are equivalent) MedDRA:10018370 E (Exact mapping: the two concepts are equivalent) OMIM:305800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609814 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614809 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615008 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0017662 E (Exact mapping: the two concepts are equivalent) DLBCL Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. Orphanet ICD-10:C83.3 ICD-11:2A81 MeSH:D016403 MedDRA:10012818 UMLS:C0079744 Multigenic/multifactorial Not applicable Adult Austria AND has_annual_incidence_average_value : 2.227 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 5.51 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 1.229 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 0.765 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 3.304 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 3.815 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 2.79 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 43.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 1.244 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 6.5 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 4.586 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 4.559 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 3.458 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 6.47 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.298 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 2.984 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 2.827 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 6.478 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 5.115 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 1.673 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 2.635 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 3.259 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 4.773 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 4.78 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 6.328 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 4.931 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544 Diffuse large B-cell lymphoma Clinical group ORPHA:544 ICD-10:C83.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016403 E (Exact mapping: the two concepts are equivalent) MedDRA:10012818 E (Exact mapping: the two concepts are equivalent) UMLS:C0079744 E (Exact mapping: the two concepts are equivalent) Xq22.3 FLJ20298 GRAMD8B RP11-321G1.1 Ensembl:ENSG00000133138 HGNC:24715 OMIM:301027 Reactome:Q0IIM8 SwissProt:Q0IIM8 TBC1D8B TBC1 domain family member 8B 9p13.3 NET37 Ensembl:ENSG00000164976 HGNC:19918 OMIM:618255 SwissProt:Q6NSJ0 MYORG myogenesis regulating glycosidase (putative) 17q12 GAR17 Ensembl:ENSG00000270765 HGNC:24846 OMIM:611398 Reactome:Q8NHY3 SwissProt:Q8NHY3 GAS2L2 growth arrest specific 2 like 2 SYNGAP1-related DEE A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). Orphanet ICD-10:G40.4 ICD-11:LD90.Y OMIM:612621 UMLS:C5680163 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 57.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544254 SYNGAP1-related developmental and epileptic encephalopathy ORPHA:544254 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612621 E (Exact mapping: the two concepts are equivalent) UMLS:C5680163 E (Exact mapping: the two concepts are equivalent) HUS MeSH:D006463 MedDRA:10018932 UMLS:C0019061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544458 Hemolytic uremic syndrome Clinical group ORPHA:544458 MeSH:D006463 E (Exact mapping: the two concepts are equivalent) MedDRA:10018932 E (Exact mapping: the two concepts are equivalent) UMLS:C0019061 E (Exact mapping: the two concepts are equivalent) A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. Orphanet ICD-10:Q07.8 OMIM:617481 UMLS:C4479566 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 48.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544469 PRUNE1-related neurological syndrome ORPHA:544469 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617481 E (Exact mapping: the two concepts are equivalent) UMLS:C4479566 E (Exact mapping: the two concepts are equivalent) Atypical HUS with complement gene abnormality aHUS with complement gene abnormality ICD-10:D58.8 OMIM:235400 OMIM:609814 OMIM:612922 OMIM:612923 OMIM:612924 OMIM:612925 OMIM:612926 OMIM:615008 UMLS:C5680166 All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544472 Atypical hemolytic uremic syndrome with complement gene abnormality Etiological subtype ORPHA:544472 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:235400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609814 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612922 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612923 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612924 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612925 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612926 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615008 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680166 E (Exact mapping: the two concepts are equivalent) Infection-related HUS A rare type of hemolytic uremic syndrome (HUS) characterized by the triad of hemolytic anemia due to generalized thrombotic microangiopathy, thrombocytopenia, and acute kidney injury, and most commonly occurring after acute gastroenteritis due to Shiga toxin-producing enterohemorrhagic <i>Escherichia coli</i> or <i>Shigella dysenteriae</i>. Other infectious causes of HUS include <i>Streptococcus pneumoniae</i>, HIV, <i>Mycoplasma pneumoniae</i>, Histoplasmosis, and Coxsackie virus. Orphanet ICD-10:D58.8 ICD-11:3A21.Y UMLS:C5680165 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544482 Infection-related hemolytic uremic syndrome ORPHA:544482 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680165 E (Exact mapping: the two concepts are equivalent) Bachmann-Bupp syndrome Ornithine decarboxylase deficiency A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. Orphanet ICD-10:E72.4 OMIM:619075 UMLS:C5436741 Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488 ICD-10:E72.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619075 E (Exact mapping: the two concepts are equivalent) UMLS:C5436741 E (Exact mapping: the two concepts are equivalent) S. pneumoniae-associated HUS SP-HUS ICD-10:D58.8 UMLS:C5680164 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome Clinical subtype ORPHA:544493 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680164 E (Exact mapping: the two concepts are equivalent) RNF13-related severe EOEE A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination. Orphanet ICD-10:G40.4 OMIM:618379 UMLS:C5193065 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544503 RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618379 E (Exact mapping: the two concepts are equivalent) UMLS:C5193065 E (Exact mapping: the two concepts are equivalent) ICD-10:Q62.2 UMLS:C5681326 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544578 Congenital primary megaureter, refluxing and obstructed form Clinical subtype ORPHA:544578 ICD-10:Q62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681326 E (Exact mapping: the two concepts are equivalent) UMLS:C5681325 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544590 Collagen-related glomerular basement membrane disease Category ORPHA:544590 UMLS:C5681325 E (Exact mapping: the two concepts are equivalent) Congenital myopathy with fast-twitch fiber atrophy Congenital myopathy with reduced type II muscle fibers Congenital myopathy with type 2 muscle fiber atrophy Congenital myopathy with type II fiber atrophy A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. Orphanet ICD-10:G71.2 OMIM:618414 UMLS:C5193081 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544602 Congenital myopathy with reduced type 2 muscle fibers ORPHA:544602 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618414 E (Exact mapping: the two concepts are equivalent) UMLS:C5193081 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. Orphanet ICD-10:E34.8 OMIM:616026 UMLS:C5681324 Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616026 E (Exact mapping: the two concepts are equivalent) UMLS:C5681324 E (Exact mapping: the two concepts are equivalent) Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. Orphanet ICD-10:C82.0 ICD-10:C82.1 ICD-10:C82.2 ICD-10:C82.3 ICD-10:C82.4 ICD-10:C82.5 ICD-10:C82.6 ICD-10:C82.7 ICD-10:C82.9 ICD-11:2A80 ICD-11:2A80.0 ICD-11:2A80.1 ICD-11:2A80.2 ICD-11:2A80.4 ICD-11:2A80.5 ICD-11:2A80.6 ICD-11:2A80.Y MeSH:D008224 MedDRA:10085128 OMIM:613024 UMLS:C0024301 Multigenic/multifactorial Not applicable Adult Austria AND has_annual_incidence_average_value : 1.52 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 3.04 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 0.348 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 1.665 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 1.687 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 0.72 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 2.192 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 37.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 0.579 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 3.95 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 2.456 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 2.769 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 2.08 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 2.541 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.363 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.277 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 1.759 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 2.977 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 3.298 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.368 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 1.364 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 1.046 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 1.389 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 2.375 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 2.916 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 2.766 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=545 Follicular lymphoma ORPHA:545 ICD-10:C82.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C82.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A80.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008224 E (Exact mapping: the two concepts are equivalent) MedDRA:10085128 E (Exact mapping: the two concepts are equivalent) OMIM:613024 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024301 E (Exact mapping: the two concepts are equivalent) A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base. Orphanet ICD-10:D44.4 MeSH:D003397 MedDRA:10011318 UMLS:C0010276 Not applicable All ages Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.19 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=54595 Craniopharyngioma ORPHA:54595 ICD-10:D44.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003397 E (Exact mapping: the two concepts are equivalent) MedDRA:10011318 E (Exact mapping: the two concepts are equivalent) UMLS:C0010276 E (Exact mapping: the two concepts are equivalent) NHL A heterogeneous group of malignant tumors of the lymphoid system. Orphanet MeSH:D008228 MedDRA:10029547 OMIM:605027 UMLS:C0024305 Adolescent Adult Childhood Elderly Infancy Europe AND has_annual_incidence_average_value : 11.6 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=547 Non-Hodgkin lymphoma Category ORPHA:547 MeSH:D008228 E (Exact mapping: the two concepts are equivalent) MedDRA:10029547 E (Exact mapping: the two concepts are equivalent) OMIM:605027 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024305 E (Exact mapping: the two concepts are equivalent) A chronic infectious disease affecting primarily the skin and peripheral nervous system. Orphanet ICD-10:A30.0 ICD-10:A30.1 ICD-10:A30.2 ICD-10:A30.3 ICD-10:A30.4 ICD-10:A30.5 ICD-10:A30.8 ICD-10:A30.9 ICD-11:1B20 ICD-11:1B20.0 ICD-11:1B20.1 ICD-11:1B20.2 ICD-11:1B20.3 MeSH:D007918 MedDRA:10024229 OMIM:246300 OMIM:607572 OMIM:609888 OMIM:610988 OMIM:613223 OMIM:613407 UMLS:C0023343 Multigenic/multifactorial All ages Worldwide AND has_annual_incidence_average_value : 3.7 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=548 Leprosy ORPHA:548 ICD-10:A30.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A30.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A30.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A30.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A30.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A30.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A30.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A30.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B20.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B20.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B20.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B20.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007918 E (Exact mapping: the two concepts are equivalent) MedDRA:10024229 E (Exact mapping: the two concepts are equivalent) OMIM:246300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607572 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609888 E (Exact mapping: the two concepts are equivalent) OMIM:610988 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613223 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613407 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0023343 E (Exact mapping: the two concepts are equivalent) A rare form of Legionellosis characterized by a severe, potentially fatal, pneumonia. Orphanet ICD-10:A48.1 ICD-11:1C19.1 MeSH:D007877 MedDRA:10035718 UMLS:C0023241 Not applicable All ages Austria AND has_annual_incidence_average_value : 1.82 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 1.38 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 1.24 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 3.18 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 0.84 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 1.18 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.83 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.28 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 2.72 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 0.28 AND has_annual_incidence_range : 1-9 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 1.02 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 1.88 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 2.48 AND has_annual_incidence_range : 1-9 / 100 000 New Zealand AND has_annual_incidence_average_value : 5.4 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 0.96 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 2.42 AND has_annual_incidence_range : 1-9 / 100 000 Romania AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 4.38 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 2.16 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 1.52 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=549 Legionnaires disease ORPHA:549 ICD-10:A48.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C19.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007877 E (Exact mapping: the two concepts are equivalent) MedDRA:10035718 E (Exact mapping: the two concepts are equivalent) UMLS:C0023241 E (Exact mapping: the two concepts are equivalent) OCA A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8. Orphanet ICD-11:EC23.20 MeSH:D016115 UMLS:C0078918 Autosomal recessive Neonatal Denmark AND has_birth_prevalence_average_value : 3.9 AND has_birth_prevalence_range : 1-9 / 100 000 South Africa AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 5.9 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=55 Oculocutaneous albinism Clinical group ORPHA:55 ICD-11:EC23.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016115 E (Exact mapping: the two concepts are equivalent) UMLS:C0078918 E (Exact mapping: the two concepts are equivalent) Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Orphanet ICD-10:G71.3 ICD-11:8C73.Y MeSH:D017241 MedDRA:10053872 OMIM:540000 UMLS:C0162671 Mitochondrial inheritance Not applicable Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 1.63 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.18 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 236.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=550 MELAS ORPHA:550 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017241 E (Exact mapping: the two concepts are equivalent) MedDRA:10053872 E (Exact mapping: the two concepts are equivalent) OMIM:540000 E (Exact mapping: the two concepts are equivalent) UMLS:C0162671 E (Exact mapping: the two concepts are equivalent) Fukuhara syndrome Myoclonus epilepsy associated with ragged-red fibres A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. Orphanet ICD-10:G71.3 ICD-11:8C73.Y MeSH:D017243 MedDRA:10069825 OMIM:545000 UMLS:C0162672 Mitochondrial inheritance Adult Childhood Europe AND has_point_prevalence_range : Unknown Sweden AND has_birth_prevalence_average_value : 0.494 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=551 MERRF ORPHA:551 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017243 E (Exact mapping: the two concepts are equivalent) MedDRA:10069825 E (Exact mapping: the two concepts are equivalent) OMIM:545000 E (Exact mapping: the two concepts are equivalent) UMLS:C0162672 E (Exact mapping: the two concepts are equivalent) Maturity-onset diabetes of the young MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. Orphanet ICD-10:E34.8 ICD-11:5A13.6 MeSH:C562772 OMIM:125850 OMIM:125851 OMIM:600496 OMIM:606391 OMIM:606392 OMIM:606394 OMIM:609812 OMIM:610508 OMIM:612225 OMIM:613370 OMIM:613375 OMIM:616329 OMIM:616511 UMLS:C0342276 Autosomal dominant Not applicable Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=552 MODY ORPHA:552 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A13.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562772 E (Exact mapping: the two concepts are equivalent) OMIM:125850 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:125851 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600496 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606391 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606392 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606394 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609812 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610508 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612225 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613375 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616329 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616511 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342276 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Hyperadrenocorticism OBSOLETE: Hypercortisolism This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Endogenous Cushing syndrome OBSOLETE: Cushing syndrome ORPHA:553 NON RARE IN EUROPE: Celiac sprue NON RARE IN EUROPE: Coeliac disease NON RARE IN EUROPE: Coeliac sprue NON RARE IN EUROPE: Gluten intolerance NON RARE IN EUROPE: Gluten-induced enteropathy NON RARE IN EUROPE: Gluten-sensitive enteropathy NON RARE IN EUROPE: Idiopathic steatorrhea NON RARE IN EUROPE: Nontropical sprue This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:K90.0 MedDRA:10009839 NON RARE IN EUROPE: Celiac disease ORPHA:555 ICD-10:K90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10009839 E (Exact mapping: the two concepts are equivalent) CARKD deficiency A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life. Orphanet ICD-10:E88.8 OMIM:618321 UMLS:C5193026 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=555402 NAD(P)HX dehydratase deficiency ORPHA:555402 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618321 E (Exact mapping: the two concepts are equivalent) UMLS:C5193026 E (Exact mapping: the two concepts are equivalent) Apolipoprotein A-I binding protein deficiency A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported. Orphanet ICD-10:E88.8 OMIM:617186 UMLS:C4310675 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=555407 NAD(P)HX epimerase deficiency ORPHA:555407 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617186 E (Exact mapping: the two concepts are equivalent) UMLS:C4310675 E (Exact mapping: the two concepts are equivalent) A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding. Orphanet ICD-10:K75.8 UMLS:C5681328 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=555434 Fibrohistiocytic inflammatory pseudotumor of the liver Clinical subtype ORPHA:555434 ICD-10:K75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681328 E (Exact mapping: the two concepts are equivalent) IgG4-related inflammatory pseudotumor of the liver A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding. Orphanet ICD-10:K75.8 UMLS:C5680170 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=555437 Lymphoplasmacytic inflammatory pseudotumor of the liver Clinical subtype ORPHA:555437 ICD-10:K75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680170 E (Exact mapping: the two concepts are equivalent) A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. Orphanet ICD-10:Q22.8 UMLS:C4255215 Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=555874 Congenital tricuspid valve dysplasia ORPHA:555874 ICD-10:Q22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4255215 E (Exact mapping: the two concepts are equivalent) FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females. Orphanet ICD-10:Q23.8 OMIM:314400 UMLS:C0262436 X-linked recessive Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=555877 FLNA-related X-linked myxomatous valvular dysplasia ORPHA:555877 ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:314400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0262436 E (Exact mapping: the two concepts are equivalent) A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis. Orphanet ICD-10:L10.8 ICD-11:EB40.Y UMLS:C1274167 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=555905 IgA pemphigus ORPHA:555905 ICD-10:L10.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1274167 E (Exact mapping: the two concepts are equivalent) Autosomal dominant limb-girdle muscular dystrophy type 1F LGMD type 1F LGMD1F Limb-girdle muscular dystrophy type 1F A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. Orphanet ICD-10:G71.0 ICD-11:8C70.40 MeSH:C564242 OMIM:608423 UMLS:C1842062 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 64.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=55595 TNP03-related limb-girdle muscular dystrophy D2 ORPHA:55595 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564242 E (Exact mapping: the two concepts are equivalent) OMIM:608423 E (Exact mapping: the two concepts are equivalent) UMLS:C1842062 E (Exact mapping: the two concepts are equivalent) Autosomal dominant limb-girdle muscular dystrophy type 1G HNRNPDL-related LGMD D3 LGMD type 1G LGMD1G Limb-girdle muscular dystrophy type 1G A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. Orphanet ICD-10:G71.0 MeSH:C563794 OMIM:609115 UMLS:C1836765 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=55596 HNRNPDL-related limb-girdle muscular dystrophy D3 ORPHA:55596 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563794 E (Exact mapping: the two concepts are equivalent) OMIM:609115 E (Exact mapping: the two concepts are equivalent) UMLS:C1836765 E (Exact mapping: the two concepts are equivalent) Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. Orphanet ICD-10:N28.8 ICD-10:N32.8 ICD-10:N36.8 ICD-11:EL3Y ICD-11:GC01.Y ICD-11:GC0Y MeSH:D008287 MedDRA:10080344 UMLS:C0024525 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=556 Malakoplakia ORPHA:556 ICD-10:N28.8 - ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:N32.8 - ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:N36.8 - ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EL3Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:GC01.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:GC0Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008287 E (Exact mapping: the two concepts are equivalent) MedDRA:10080344 E (Exact mapping: the two concepts are equivalent) UMLS:C0024525 E (Exact mapping: the two concepts are equivalent) Early-onset familial hyperreninemic hypoaldosteronism Severe aldosterone synthase deficiency A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low. Orphanet ICD-10:E27.4 ICD-11:5A73 UMLS:C5680171 Adolescent Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=556030 Early-onset familial hypoaldosteronism Clinical subtype ORPHA:556030 ICD-10:E27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680171 E (Exact mapping: the two concepts are equivalent) Late-onset familial hyperreninemic hypoaldosteronism Mild aldosterone synthase deficiency A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening. Orphanet ICD-10:E27.4 ICD-11:5A73 UMLS:C5680172 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=556037 Late-onset familial hypoaldosteronism Clinical subtype ORPHA:556037 ICD-10:E27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680172 E (Exact mapping: the two concepts are equivalent) 17q12 NDRF NeuroD-related factor bHLHa1 Ensembl:ENSG00000171532 HGNC:7763 OMIM:601725 SwissProt:Q15784 NEUROD2 neuronal differentiation 2 7q22.1 FLJ10925 Ensembl:ENSG00000146826 HGNC:25604 OMIM:618350 Reactome:Q8WVR3 SwissProt:Q8WVR3 TRAPPC14 trafficking protein particle complex subunit 14 8q24.3 IKBR Ensembl:ENSG00000160949 HGNC:7801 OMIM:604546 SwissProt:Q96HA7 TONSL tonsoku like, DNA repair protein 11q13.4 FLJ14993 receptor expressed in lymphoid tissues Ensembl:ENSG00000054967 HGNC:13764 IUPHAR:1892 OMIM:611211 SwissProt:Q969Z4 RELT RELT TNF receptor 3p21.1 AD-017 FLJ14611 Ensembl:ENSG00000016864 HGNC:24870 OMIM:618399 SwissProt:Q68CQ7 GLT8D1 glycosyltransferase 8 domain containing 1 1q42.3 IRF-2BP2 Ensembl:ENSG00000168264 HGNC:21729 OMIM:615332 Reactome:Q7Z5L9 SwissProt:Q7Z5L9 IRF2BP2 interferon regulatory factor 2 binding protein 2 UMLS:C5681335 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=556508 Rare disorder due to poisoning Category ORPHA:556508 UMLS:C5681335 E (Exact mapping: the two concepts are equivalent) Hereditary hypotrichosis simplex Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Orphanet ICD-10:L65.8 ICD-11:EC21.2 MeSH:C537160 OMIM:278150 OMIM:604379 OMIM:605389 OMIM:607903 OMIM:614237 OMIM:614238 OMIM:615059 OMIM:615885 OMIM:618275 OMIM:620177 UMLS:C1854310 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=55654 Hypotrichosis simplex ORPHA:55654 ICD-10:L65.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537160 E (Exact mapping: the two concepts are equivalent) OMIM:278150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604379 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605389 E (Exact mapping: the two concepts are equivalent) OMIM:607903 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614237 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614238 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615059 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615885 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618275 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620177 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1854310 E (Exact mapping: the two concepts are equivalent) A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy. Orphanet ICD-10:G00.1 ICD-11:1B53 MeSH:D008586 MedDRA:10027253 UMLS:C0025295 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=55655 Pneumococcal meningitis ORPHA:55655 ICD-10:G00.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B53 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008586 E (Exact mapping: the two concepts are equivalent) MedDRA:10027253 E (Exact mapping: the two concepts are equivalent) UMLS:C0025295 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder. Orphanet ICD-10:Q87.8 OMIM:618500 UMLS:C5681334 Antenatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=556955 Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681334 E (Exact mapping: the two concepts are equivalent) A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. Orphanet ICD-10:G93.4 OMIM:618476 UMLS:C5681333 Autosomal recessive Adolescent Antenatal Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618476 E (Exact mapping: the two concepts are equivalent) UMLS:C5681333 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls. Orphanet ICD-11:LB17.0 MeSH:C537771 OMIM:107100 OMIM:207500 OMIM:301800 UMLS:C5680419 Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 78.0 AND has_birth_prevalence_range : 6-9 / 10 000 Belgium AND has_birth_prevalence_average_value : 26.2 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 24.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 23.6 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 53.5 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 43.2 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 28.9 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 11.3 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 29.2 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 29.5 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 4.7 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 60.8 AND has_birth_prevalence_range : 6-9 / 10 000 Spain AND has_birth_prevalence_average_value : 13.8 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 49.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 28.6 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 21.6 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=557 Non-syndromic anorectal malformation Clinical group ORPHA:557 ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537771 E (Exact mapping: the two concepts are equivalent) OMIM:107100 E (Exact mapping: the two concepts are equivalent) OMIM:207500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680419 E (Exact mapping: the two concepts are equivalent) Oculo-skeleto-dental syndrome A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Orphanet ICD-10:Q87.8 OMIM:618440 UMLS:C5193101 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=557003 Oculoskeletodental syndrome ORPHA:557003 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618440 E (Exact mapping: the two concepts are equivalent) UMLS:C5193101 E (Exact mapping: the two concepts are equivalent) A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. Orphanet ICD-10:E88.8 OMIM:618412 UMLS:C5681336 Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=557056 Spastic ataxia-dysarthria due to glutaminase deficiency ORPHA:557056 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618412 E (Exact mapping: the two concepts are equivalent) UMLS:C5681336 E (Exact mapping: the two concepts are equivalent) A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. Orphanet ICD-10:E88.8 OMIM:618328 UMLS:C5193030 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=557064 Neonatal epileptic encephalopathy due to glutaminase deficiency ORPHA:557064 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618328 E (Exact mapping: the two concepts are equivalent) UMLS:C5193030 E (Exact mapping: the two concepts are equivalent) A collection of clinical entities sharing a set of common features. group of disorders A clinical entity characterised by a set of homogeneous phenotypic abnormalities and evolution allowing a definitive clinical diagnosis. disorder Subdivision of a disorder according to a positive criterion. subtype of a disorder UMLS:C5681269 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=557866 Rare disorder with Hirschsprung disease as a major feature Category ORPHA:557866 UMLS:C5681269 E (Exact mapping: the two concepts are equivalent) MFS Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Orphanet ICD-10:Q87.4 ICD-11:LD28.01 MeSH:D008382 MedDRA:10026829 OMIM:154700 OMIM:610168 UMLS:C0024796 Autosomal dominant All ages Europe AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=558 Marfan syndrome ORPHA:558 ICD-10:Q87.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD28.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008382 E (Exact mapping: the two concepts are equivalent) MedDRA:10026829 E (Exact mapping: the two concepts are equivalent) OMIM:154700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610168 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0024796 E (Exact mapping: the two concepts are equivalent) A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition. Orphanet ICD-10:K31.8 ICD-11:DA41.00 UMLS:C0267171 Adolescent Adult Childhood Elderly Infancy Specific population AND has_point_prevalence_average_value : 11.4 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=558411 Idiopathic gastroparesis ORPHA:558411 ICD-10:K31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA41.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0267171 E (Exact mapping: the two concepts are equivalent) 5q33.2 AMPA receptor subunit GluA1 GLURA GluA1 Glutamate receptor 1 Ensembl:ENSG00000155511 HGNC:4571 IUPHAR:444 OMIM:138248 Reactome:P42261 SwissProt:P42261 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 17q23.2 KIAA0593 TRAP240 Ensembl:ENSG00000108510 HGNC:22474 OMIM:603808 Reactome:Q9UHV7 SwissProt:Q9UHV7 MED13 mediator complex subunit 13 22q13.1 KIAA1093 Ensembl:ENSG00000100354 HGNC:29190 OMIM:610740 Reactome:Q9UPQ9 SwissProt:Q9UPQ9 TNRC6B trinucleotide repeat containing adaptor 6B Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection. Orphanet ICD-10:C49.9 ICD-11:2B50 MeSH:D002813 MedDRA:10008734 OMIM:215300 UMLS:C0008479 Not applicable Unknown Adult Europe AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 3.55 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=55880 Chondrosarcoma ORPHA:55880 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002813 E (Exact mapping: the two concepts are equivalent) MedDRA:10008734 E (Exact mapping: the two concepts are equivalent) OMIM:215300 E (Exact mapping: the two concepts are equivalent) UMLS:C0008479 E (Exact mapping: the two concepts are equivalent) Adamantinoma of long bones A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed. Orphanet ICD-10:C40.2 ICD-11:2B5J ICD-11:XH8F52 MeSH:D050398 OMIM:102660 UMLS:C0334556 Not applicable Adolescent Adult Childhood Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_lifetime_prevalence_average_value : 0.11 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=55881 Adamantinoma ORPHA:55881 ICD-10:C40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B5J - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH8F52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D050398 E (Exact mapping: the two concepts are equivalent) OMIM:102660 E (Exact mapping: the two concepts are equivalent) UMLS:C0334556 E (Exact mapping: the two concepts are equivalent) A rare autosomal recessive disorder characterized by cerebellar ataxia, early-onset bilateral cataracts, chronic myopathy; additional features are delayed motor development and variable intellectual disability, hypergonadotrophic hypogonadism and delayed puberty, and short stature. Orphanet ICD-10:G11.1 ICD-11:8C70.6 OMIM:248800 UMLS:C0024814 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=559 Marinesco-Sjögren syndrome ORPHA:559 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248800 E (Exact mapping: the two concepts are equivalent) UMLS:C0024814 E (Exact mapping: the two concepts are equivalent) 10q22.2 Ensembl:ENSG00000138286 HGNC:29162 OMIM:618413 SwissProt:Q96BN6 FAM149B1 family with sequence similarity 149 member B1 11p15.5 PEN11B SAD-A brain selective kinase 2 serine/threonine kinase 29 Ensembl:ENSG00000174672 HGNC:11405 IUPHAR:1947 OMIM:609236 Reactome:Q8IWQ3 SwissProt:Q8IWQ3 BRSK2 BR serine/threonine kinase 2 5q31.1 macroH2A1.2 Ensembl:ENSG00000113648 HGNC:4740 OMIM:610054 Reactome:O75367 SwissProt:O75367 MACROH2A1 macroH2A.1 histone 1p36.32 FLJ10782 Ensembl:ENSG00000157881 HGNC:19366 OMIM:606162 Reactome:Q9NVE7 SwissProt:Q9NVE7 PANK4 pantothenate kinase 4 (inactive) 6p22.3 Ensembl:ENSG00000112186 HGNC:20039 OMIM:618385 Reactome:P40123 SwissProt:P40123 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 4p14 A1 MHCBFB PO-GA RFC140 Ensembl:ENSG00000035928 HGNC:9969 OMIM:102579 Reactome:P35251 SwissProt:P35251 RFC1 replication factor C subunit 1 Hereditary ochronosis Homogentisic acid oxidase deficiency A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). Orphanet ICD-10:E70.2 ICD-11:5C50.10 MeSH:D000474 MedDRA:10001689 OMIM:203500 UMLS:C0002066 Autosomal recessive Adult Infancy Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 Slovakia AND has_birth_prevalence_average_value : 5.3 AND has_birth_prevalence_range : 1-9 / 100 000 Slovakia AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=56 Alkaptonuria ORPHA:56 ICD-10:E70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000474 E (Exact mapping: the two concepts are equivalent) MedDRA:10001689 E (Exact mapping: the two concepts are equivalent) OMIM:203500 E (Exact mapping: the two concepts are equivalent) UMLS:C0002066 E (Exact mapping: the two concepts are equivalent) A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. Orphanet ICD-10:Q87.0 ICD-11:LD27.0Y MeSH:C536025 OMIM:154780 UMLS:C0265235 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=560 Marshall syndrome ORPHA:560 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536025 E (Exact mapping: the two concepts are equivalent) OMIM:154780 E (Exact mapping: the two concepts are equivalent) UMLS:C0265235 E (Exact mapping: the two concepts are equivalent) Carcinoma of gallbladder and EBT Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites. Orphanet MedDRA:10007426 UMLS:C5566557 Not applicable Adult Europe AND has_annual_incidence_average_value : 4.37 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 1.27 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 5.3 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 14.0 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 12.0 AND has_annual_incidence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=56044 Carcinoma of gallbladder and extrahepatic biliary tract Clinical group ORPHA:56044 MedDRA:10007426 E (Exact mapping: the two concepts are equivalent) UMLS:C5566557 E (Exact mapping: the two concepts are equivalent) 17q22 CT113 Inactive serine/threonine-protein kinase TEX14 SgK307 cancer/testis antigen 113 Ensembl:ENSG00000121101 HGNC:11737 IUPHAR:2241 OMIM:605792 SwissProt:Q8IWB6 TEX14 testis expressed 14, intercellular bridge forming factor 7q22.1 BAF53B SMARCN2 Ensembl:ENSG00000077080 HGNC:160 OMIM:612458 Reactome:O94805 SwissProt:O94805 ACTL6B actin like 6B 5q21.1 CFAP160 KIAA0433 VIP2 Ensembl:ENSG00000145725 HGNC:29035 OMIM:611648 Reactome:O43314 SwissProt:O43314 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:C536026 OMIM:602535 UMLS:C0265211 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 74.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=561 Marshall-Smith syndrome ORPHA:561 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536026 E (Exact mapping: the two concepts are equivalent) OMIM:602535 E (Exact mapping: the two concepts are equivalent) UMLS:C0265211 E (Exact mapping: the two concepts are equivalent) 6q16.2 MGC14793 Ensembl:ENSG00000123552 HGNC:20080 OMIM:618439 Reactome:Q70EL2 SwissProt:Q70EL2 USP45 ubiquitin specific peptidase 45 5q15 DKFZp686F0372 MGC34713 Ensembl:ENSG00000185261 HGNC:28532 OMIM:617266 Reactome:Q8IV33 SwissProt:Q8IV33 KIAA0825 KIAA0825 6q21 DKFZp434P0714 bA787I22.1 Ensembl:ENSG00000118690 HGNC:23045 OMIM:618424 SwissProt:Q8NEN0 ARMC2 armadillo repeat containing 2 17q12 DFNB99 Ensembl:ENSG00000181291 HGNC:26991 OMIM:616178 SwissProt:Q6IEE7 TMEM132E transmembrane protein 132E 17p11.2 Ensembl:ENSG00000154016 HGNC:4562 OMIM:604330 Reactome:Q13588 SwissProt:Q13588 GRAP GRB2 related adaptor protein 3p22.2 IFT139A STI2 Stress-inducible protein 2 Thm2 Ensembl:ENSG00000168026 HGNC:30761 OMIM:611430 Reactome:Q8NDW8 SwissProt:Q8NDW8 TTC21A tetratricopeptide repeat domain 21A 2q32.2 GAC GAM GLS1 K-glutaminase KGA KIAA0838 glutaminase C Ensembl:ENSG00000115419 HGNC:4331 IUPHAR:2891 OMIM:138280 Reactome:O94925 SwissProt:O94925 GLS glutaminase 10q22.3 FLJ13541 KIAA1224 MIZ RP11-519K18.1 Zimp10 hZIMP10 Ensembl:ENSG00000108175 HGNC:16493 OMIM:607159 SwissProt:Q9ULJ6 ZMIZ1 zinc finger MIZ-type containing 1 6p22.3 Ensembl:ENSG00000124766 HGNC:11200 OMIM:184430 Reactome:Q06945 SwissProt:Q06945 SOX4 SRY-box transcription factor 4 2p25.1 ODC Ensembl:ENSG00000115758 HGNC:8109 IUPHAR:1276 OMIM:165640 Reactome:P11926 SwissProt:P11926 ODC1 ornithine decarboxylase 1 3q25.1 RZF Ensembl:ENSG00000082996 HGNC:10057 OMIM:609247 Reactome:O43567 SwissProt:O43567 RNF13 ring finger protein 13 13q34 ATP-dependent NAD(P)H-hydrate dehydratase FLJ10769 LP3298 Ensembl:ENSG00000213995 HGNC:25576 OMIM:615910 Reactome:Q8IW45 SwissProt:Q8IW45 NAXD NAD(P)HX dehydratase 7q22.3 FLJ20485 Ensembl:ENSG00000091127 HGNC:26033 OMIM:616261 SwissProt:Q96PZ0 PUS7 pseudouridine synthase 7 2q34 MLC-1 MLC1 MLC1/3 MLC1F MLC3F Myosin light chain 1/3, skeletal muscle isoform Ensembl:ENSG00000168530 HGNC:7582 OMIM:160780 Reactome:P05976 SwissProt:P05976 MYL1 myosin light chain 1 FOXG1-related epileptic-dyskinetic encephalopathy A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum. Orphanet ICD-10:Q04.8 UMLS:C3150705 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=561854 FOXG1 syndrome ORPHA:561854 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3150705 E (Exact mapping: the two concepts are equivalent) A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome). Orphanet ICD-10:Q78.1 ICD-11:FB80.0 OMIM:174800 UMLS:C0242292 Not applicable Childhood Europe AND has_point_prevalence_average_value : 0.55 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=562 McCune-Albright syndrome ORPHA:562 ICD-10:Q78.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:FB80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:174800 E (Exact mapping: the two concepts are equivalent) UMLS:C0242292 E (Exact mapping: the two concepts are equivalent) 9p22.3-p22.2 BSN2 FLJ20043 bn2 Ensembl:ENSG00000173068 HGNC:30988 OMIM:608669 SwissProt:Q6ZN30 BNC2 basonuclin zinc finger protein 2 1q42.3 entactin Ensembl:ENSG00000116962 HGNC:7821 OMIM:131390 SwissProt:P14543 NID1 nidogen 1 HO-1 deficiency A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly. Orphanet ICD-10:E88.8 MeSH:C564200 OMIM:614034 UMLS:C1841651 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=562509 Heme oxygenase-1 deficiency ORPHA:562509 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564200 E (Exact mapping: the two concepts are equivalent) OMIM:614034 E (Exact mapping: the two concepts are equivalent) UMLS:C1841651 E (Exact mapping: the two concepts are equivalent) CLIFAHDD syndrome A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Orphanet ICD-10:Q87.8 OMIM:616266 UMLS:C4225398 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616266 E (Exact mapping: the two concepts are equivalent) UMLS:C4225398 E (Exact mapping: the two concepts are equivalent) MTO-deficiency Methanethiol oxidase deficiency A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine. Orphanet ICD-10:E88.8 OMIM:618148 UMLS:C4748387 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=562538 Autosomal recessive extra-oral halitosis ORPHA:562538 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618148 E (Exact mapping: the two concepts are equivalent) UMLS:C4748387 E (Exact mapping: the two concepts are equivalent) MRAMS syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Orphanet ICD-10:F72.8 OMIM:613671 UMLS:C3150924 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559 ICD-10:F72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613671 E (Exact mapping: the two concepts are equivalent) UMLS:C3150924 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin. Orphanet ICD-10:Q87.8 OMIM:618316 UMLS:C5193024 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618316 E (Exact mapping: the two concepts are equivalent) UMLS:C5193024 E (Exact mapping: the two concepts are equivalent) Overlap syndromes of autoimmune liver diseases PBC/PSC and AIH overlap syndrome A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. Orphanet ICD-10:K75.4 UMLS:C5680117 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome ORPHA:562639 ICD-10:K75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680117 E (Exact mapping: the two concepts are equivalent) Postpartum cardiomyopathy Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery. Orphanet ICD-10:O90.3 ICD-11:JB44.3 MedDRA:10049430 UMLS:C0877208 Unknown Adult Haiti AND has_birth_prevalence_average_value : 334.0 AND has_birth_prevalence_range : >1 / 1000 Japan AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Singapore AND has_birth_prevalence_average_value : 89.0 AND has_birth_prevalence_range : 6-9 / 10 000 South Africa AND has_birth_prevalence_average_value : 100.0 AND has_birth_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 36.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 30.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563 Peripartum cardiomyopathy ORPHA:563 ICD-10:O90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JB44.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10049430 E (Exact mapping: the two concepts are equivalent) UMLS:C0877208 E (Exact mapping: the two concepts are equivalent) AO2 AOII Atelosteogenesis type 2 De la Chapelle dysplasia Neonatal osseous dysplasia type 1 A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. Orphanet ICD-10:Q77.5 ICD-11:LD24.03 MeSH:C535395 OMIM:256050 UMLS:C1850554 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=56304 Atelosteogenesis type II ORPHA:56304 ICD-10:Q77.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535395 E (Exact mapping: the two concepts are equivalent) OMIM:256050 E (Exact mapping: the two concepts are equivalent) UMLS:C1850554 E (Exact mapping: the two concepts are equivalent) AO3 AOIII Atelosteogenesis type 3 A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Orphanet ICD-10:Q78.8 ICD-11:LD24.E MeSH:C579928 OMIM:108721 UMLS:C3668942 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=56305 Atelosteogenesis type III ORPHA:56305 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C579928 E (Exact mapping: the two concepts are equivalent) OMIM:108721 E (Exact mapping: the two concepts are equivalent) UMLS:C3668942 E (Exact mapping: the two concepts are equivalent) AIH type 1 A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), and/or anti-soluble liver antigen/liver pancreas antigen antibodies (anti-SLA/LP). The disease predominantly develops at a post-pubertal age and most commonly takes a chronic course, although acute or acute severe presentation may also be observed. Typical concurrent autoimmune diseases are autoimmune thyroiditis and rheumatic diseases. Orphanet ICD-10:K75.4 ICD-11:DB96.0 UMLS:C4303164 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563576 Autoimmune hepatitis type 1 Clinical subtype ORPHA:563576 ICD-10:K75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB96.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303164 E (Exact mapping: the two concepts are equivalent) AIH type 2 A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antibodies to liver kidney microsome type 1 (anti-LKM1) and anti-liver cytosol type 1 (anti-LC1) antibodies. The disease typically manifests in childhood or adolescence with an acute onset, often with acute liver failure. Long-term immunosuppression is usually required. Reported concurrent autoimmune diseases are autoimmune thyroiditis, diabetes mellitus, and vitiligo. Orphanet ICD-10:K75.4 ICD-11:DB96.0 UMLS:C4303163 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563581 Autoimmune hepatitis type 2 Clinical subtype ORPHA:563581 ICD-10:K75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB96.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303163 E (Exact mapping: the two concepts are equivalent) Autoantibody-negative autoimmune hepatitis Seronegative AIH A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed. Orphanet ICD-10:K75.4 ICD-11:DB96.0 UMLS:C5680121 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563589 Seronegative autoimmune hepatitis Clinical subtype ORPHA:563589 ICD-10:K75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB96.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680121 E (Exact mapping: the two concepts are equivalent) ICD-10:Q00.0 ICD-11:LA00.0 MedDRA:10002320 UMLS:C0002902 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563609 Isolated anencephaly Clinical subtype ORPHA:563609 ICD-10:Q00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002320 E (Exact mapping: the two concepts are equivalent) UMLS:C0002902 E (Exact mapping: the two concepts are equivalent) ICD-10:Q00.0 ICD-11:LA00.0Y UMLS:C0266453 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563612 Isolated exencephaly Clinical subtype ORPHA:563612 ICD-10:Q00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266453 E (Exact mapping: the two concepts are equivalent) Serous cystadenoma of ovary in childhood ICD-10:D27 UMLS:C4708593 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563666 Serous cystadenoma of childhood Histopathological subtype ORPHA:563666 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4708593 E (Exact mapping: the two concepts are equivalent) Mucinous cystadenoma of ovary in childhood ICD-10:D27 UMLS:C4708594 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563671 Mucinous cystadenoma of childhood Histopathological subtype ORPHA:563671 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4708594 E (Exact mapping: the two concepts are equivalent) Seromucinous cystadenoma of ovary in childhood ICD-10:D27 UMLS:C5231009 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563676 Seromucinous cystadenoma of childhood Histopathological subtype ORPHA:563676 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5231009 E (Exact mapping: the two concepts are equivalent) Furunculoid myiasis due to Dermatobia hominis Furunculous myiasis due to Dermatobia hominis ICD-10:B87.0 ICD-11:1G01.3 UMLS:C0277400 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563684 Furuncular myiasis due to Dermatobia hominis Clinical subtype ORPHA:563684 ICD-10:B87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1G01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0277400 E (Exact mapping: the two concepts are equivalent) Furunculoid myiasis due to Cordylobia anthropophaga Furunculous myiasis due to Cordylobia anthropophaga ICD-10:B87.0 ICD-11:1G01.3 UMLS:C4511624 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563687 Furuncular myiasis due to Cordylobia anthropophaga Clinical subtype ORPHA:563687 ICD-10:B87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1G01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4511624 E (Exact mapping: the two concepts are equivalent) Furunculoid myiasis due to Cordylobia rodhaini Furunculous myiasis due to Cordylobia rodhaini ICD-10:B87.0 ICD-11:1G01.3 UMLS:C5231033 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563690 Furuncular myiasis due to Cordylobia rodhaini Clinical subtype ORPHA:563690 ICD-10:B87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1G01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5231033 E (Exact mapping: the two concepts are equivalent) Syndromic congenital tufting enteropathy A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly. Orphanet ICD-10:K59.8 ICD-10:K90.8 OMIM:270420 UMLS:C5680120 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563708 Syndromic congenital sodium diarrhea ORPHA:563708 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:K90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:270420 E (Exact mapping: the two concepts are equivalent) UMLS:C5680120 E (Exact mapping: the two concepts are equivalent) ICD-10:Q38.3 ICD-11:LA31.1 MedDRA:10001501 UMLS:C0158663 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563951 Isolated congenital aglossia Clinical subtype ORPHA:563951 ICD-10:Q38.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10001501 E (Exact mapping: the two concepts are equivalent) UMLS:C0158663 E (Exact mapping: the two concepts are equivalent) ICD-10:Q38.3 ICD-11:LA31.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563954 Isolated congenital hypoglossia Clinical subtype ORPHA:563954 ICD-10:Q38.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Aseptic necrosis of the tarsal bone Avascular necrosis of the tarsal bone Kohler disease A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls. Orphanet ICD-10:M92.6 UMLS:C0022765 Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=563991 Osteochondrosis of the tarsal bone ORPHA:563991 ICD-10:M92.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0022765 E (Exact mapping: the two concepts are equivalent) Dysencephalia splanchnocystica Meckel-Gruber syndrome A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. Orphanet ICD-10:Q61.9 ICD-11:LD2F.13 OMIM:249000 OMIM:267010 OMIM:603194 OMIM:607361 OMIM:609345 OMIM:611134 OMIM:611561 OMIM:612284 OMIM:613885 OMIM:614175 OMIM:614209 OMIM:615397 OMIM:616258 OMIM:617562 OMIM:619879 UMLS:C0265215 Autosomal recessive Antenatal Europe AND has_birth_prevalence_average_value : 2.6 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=564 Meckel syndrome ORPHA:564 ICD-10:Q61.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.13 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:249000 E (Exact mapping: the two concepts are equivalent) OMIM:267010 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603194 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607361 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609345 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611134 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611561 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612284 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613885 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614175 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614209 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615397 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616258 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617562 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619879 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265215 E (Exact mapping: the two concepts are equivalent) Avascular necrosis of the metatarsal bone Freiberg disease Freiberg infraction A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life. Orphanet ICD-10:M92.7 ICD-11:FB82.1 MeSH:C535636 UMLS:C0264099 Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=564003 Osteochondrosis of the metatarsal bone ORPHA:564003 ICD-10:M92.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535636 E (Exact mapping: the two concepts are equivalent) UMLS:C0264099 E (Exact mapping: the two concepts are equivalent) Hereditary nephrotic syndrome UMLS:C5680119 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=564127 Genetic nephrotic syndrome Clinical group ORPHA:564127 UMLS:C5680119 E (Exact mapping: the two concepts are equivalent) A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume. Orphanet ICD-10:E83.4 OMIM:618314 UMLS:C5681271 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618314 E (Exact mapping: the two concepts are equivalent) UMLS:C5681271 E (Exact mapping: the two concepts are equivalent) CAD CAS Chronic cold agglutinin disease Cold agglutinin syndrome Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C). Orphanet ICD-10:D59.1 ICD-11:3A20.1 UMLS:C0175816 Multigenic/multifactorial Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=56425 Cold agglutinin disease ORPHA:56425 ICD-10:D59.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0175816 E (Exact mapping: the two concepts are equivalent) 15q22.2 HsT18816 Ensembl:ENSG00000074410 HGNC:1371 IUPHAR:2747 OMIM:603263 Reactome:O43570 SwissProt:O43570 CA12 carbonic anhydrase 12 15q21.2 GB5 Guanine nucleotide-binding protein subunit beta-5 Transducin beta chain 5 Ensembl:ENSG00000069966 HGNC:4401 OMIM:604447 Reactome:O14775 SwissProt:O14775 GNB5 G protein subunit beta 5 19p13.11 K-CAP KIAA1283 VIP Ensembl:ENSG00000160111 HGNC:23228 OMIM:608841 SwissProt:Q8IZJ3 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 3p21.2 KIAA0299 MOCA PBP Ensembl:ENSG00000088538 HGNC:2989 OMIM:603123 Reactome:Q8IZD9 SwissProt:Q8IZD9 DOCK3 dedicator of cytokinesis 3 MD Menkes kinky hair disease Menkes syndrome A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair. Orphanet ICD-10:E83.0 ICD-11:5C64.0Y MeSH:D007706 MedDRA:10027294 OMIM:309400 UMLS:C0022716 X-linked recessive Neonatal Australia AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.33 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565 Menkes disease ORPHA:565 ICD-10:E83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C64.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007706 E (Exact mapping: the two concepts are equivalent) MedDRA:10027294 E (Exact mapping: the two concepts are equivalent) OMIM:309400 E (Exact mapping: the two concepts are equivalent) UMLS:C0022716 E (Exact mapping: the two concepts are equivalent) Neutral lipid storage disease with severe cardiovascular involvement TGCV A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed. Orphanet ICD-10:E75.5 UMLS:C5680124 Autosomal recessive Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565612 Primary triglyceride deposit cardiomyovasculopathy ORPHA:565612 ICD-10:E75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680124 E (Exact mapping: the two concepts are equivalent) COXPD39 GFM2-related combined oxidative phosphorylation defect A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:618397 UMLS:C5193075 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565624 Combined oxidative phosphorylation defect type 39 ORPHA:565624 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618397 E (Exact mapping: the two concepts are equivalent) UMLS:C5193075 E (Exact mapping: the two concepts are equivalent) Aplastic desmosis coli A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation. Orphanet ICD-10:K59.8 UMLS:C5680125 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565641 Primary desmosis coli ORPHA:565641 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680125 E (Exact mapping: the two concepts are equivalent) UMLS:C5681283 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565779 Rare disorder potentially indicated for transplant or complication after transplantation Category Head of classification ORPHA:565779 UMLS:C5681283 E (Exact mapping: the two concepts are equivalent) A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed. Orphanet ICD-10:Y14 UMLS:C0568062 Not applicable All ages Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565782 Methotrexate toxicity ORPHA:565782 ICD-10:Y14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0568062 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Orphanet ICD-10:D89.8 OMIM:618213 UMLS:C5568565 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565788 Infantile inflammatory bowel disease with neurological involvement ORPHA:565788 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618213 E (Exact mapping: the two concepts are equivalent) UMLS:C5568565 E (Exact mapping: the two concepts are equivalent) LGMD type R23 Laminin subunit alpha 2-related LGMD R23 Laminin subunit alpha 2-related late-onset muscular dystrophy A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. Orphanet ICD-10:G71.0 OMIM:618138 UMLS:C5680122 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 ORPHA:565837 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618138 E (Exact mapping: the two concepts are equivalent) UMLS:C5680122 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. Orphanet ICD-10:Q87.8 OMIM:618265 UMLS:C4748872 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618265 E (Exact mapping: the two concepts are equivalent) UMLS:C4748872 E (Exact mapping: the two concepts are equivalent) LGMD type R24 Limb-girdle muscular dystrophy type R24 POMGNT2-related LGMD R24 POMGNT2-related muscular dystrophy A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. Orphanet ICD-10:G71.0 OMIM:618135 UMLS:C5680123 Adolescent Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565899 POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618135 E (Exact mapping: the two concepts are equivalent) UMLS:C5680123 E (Exact mapping: the two concepts are equivalent) LGMD type D4 LGMD1I Limb-girdle muscular dystrophy type D4 A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory. Orphanet ICD-10:G71.0 OMIM:618129 UMLS:C4748295 Adult Worldwide AND has_cases/families_value : 47.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=565909 Calpain-3-related limb-girdle muscular dystrophy D4 ORPHA:565909 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618129 E (Exact mapping: the two concepts are equivalent) UMLS:C4748295 E (Exact mapping: the two concepts are equivalent) 6p22.1 GABA-B receptor GPRC3A hGB1a Ensembl:ENSG00000204681 HGNC:4070 IUPHAR:240 OMIM:603540 Reactome:Q9UBS5 SwissProt:Q9UBS5 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 4p12 GABA(A) receptor, alpha 2 Ensembl:ENSG00000151834 HGNC:4076 IUPHAR:405 OMIM:137140 Reactome:P47869 SwissProt:P47869 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 Congenital miosis Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma. Orphanet ICD-10:Q13.8 ICD-11:LA11.Y MeSH:C537550 OMIM:156600 UMLS:C1303009 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566 Congenital microcoria ORPHA:566 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537550 E (Exact mapping: the two concepts are equivalent) OMIM:156600 E (Exact mapping: the two concepts are equivalent) UMLS:C1303009 E (Exact mapping: the two concepts are equivalent) 5q23.3 BSC-2 BSC2 CCC1 NKCC1 PPP1R141 basolateral Na-K-Cl symporter bumetanide-sensitive cotransporter type 2 protein phosphatase 1, regulatory subunit 141 Ensembl:ENSG00000064651 HGNC:10911 IUPHAR:969 OMIM:600840 Reactome:P55011 SwissProt:P55011 SLC12A2 solute carrier family 12 member 2 CAIN A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. Orphanet ICD-10:D89.8 OMIM:260570 UMLS:C5568564 Autosomal recessive Adolescent Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome ORPHA:566067 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:260570 E (Exact mapping: the two concepts are equivalent) UMLS:C5568564 E (Exact mapping: the two concepts are equivalent) 2q14.2 FAP221 PCDP1 flagellar associated protein 221 homolog (Chlamydomonas) primary ciliary dyskinesia 1 homolog (mouse) Ensembl:ENSG00000163075 HGNC:33720 OMIM:618704 SwissProt:Q4G0U5 CFAP221 cilia and flagella associated protein 221 5p13.2 CT122 FLJ23577 KPL2 cancer/testis antigen 122 Ensembl:ENSG00000152582 HGNC:26293 OMIM:610172 SwissProt:Q9C093 SPEF2 sperm flagellar 2 CD55 deficiency CHAPLE syndrome A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. Orphanet ICD-10:D84.1 MedDRA:10085728 OMIM:226300 UMLS:C4538570 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome ORPHA:566175 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10085728 E (Exact mapping: the two concepts are equivalent) OMIM:226300 E (Exact mapping: the two concepts are equivalent) UMLS:C4538570 E (Exact mapping: the two concepts are equivalent) CARST A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections. Orphanet ICD-10:D69.4 OMIM:273900 UMLS:C5680129 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566192 Congenital autosomal recessive small-platelet thrombocytopenia ORPHA:566192 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:273900 E (Exact mapping: the two concepts are equivalent) UMLS:C5680129 E (Exact mapping: the two concepts are equivalent) RTHa Resistance to thyroid hormone alpha Resistance to thyroid hormone due to a mutation in TRa A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms. Orphanet ICD-10:E07.8 UMLS:C5680127 All ages Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha ORPHA:566231 ICD-10:E07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680127 E (Exact mapping: the two concepts are equivalent) RTHb Resistance to thyroid hormone beta Resistance to thyroid hormone due to a mutation in TRb A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. Orphanet ICD-10:E07.8 OMIM:145650 OMIM:188570 OMIM:274300 Autosomal recessive All ages Japan AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 2.47 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta ORPHA:566243 ICD-10:E07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:145650 E (Exact mapping: the two concepts are equivalent) OMIM:188570 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:274300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Acute MCL A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor. Orphanet ICD-10:C94.3 ICD-11:2A21.00 UMLS:C5680128 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566393 Acute mast cell leukemia Clinical subtype ORPHA:566393 ICD-10:C94.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680128 E (Exact mapping: the two concepts are equivalent) Chronic MCL A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress. Orphanet ICD-10:C94.3 ICD-11:2A21.00 UMLS:C5680130 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566396 Chronic mast cell leukemia Clinical subtype ORPHA:566396 ICD-10:C94.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680130 E (Exact mapping: the two concepts are equivalent) 2q24.1 HZF-3 NOT RNR1 TINUR Ensembl:ENSG00000153234 HGNC:7981 IUPHAR:630 OMIM:601828 Reactome:P43354 SwissProt:P43354 NR4A2 nuclear receptor subfamily 4 group A member 2 3p24.3 Ensembl:ENSG00000182568 HGNC:10541 OMIM:602075 Reactome:Q01826 SwissProt:Q01826 SATB1 SATB homeobox 1 Xp22.2 Ensembl:ENSG00000196664 HGNC:15631 IUPHAR:1757 OMIM:300365 Reactome:Q9NYK1 SwissProt:Q9NYK1 TLR7 toll like receptor 7 20q11.22 dJ553F4.3 Ensembl:ENSG00000131061 HGNC:15992 OMIM:618269 Reactome:Q9BYN7 SwissProt:Q9BYN7 ZNF341 zinc finger protein 341 Hepatic adenomatosis A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases. Orphanet ICD-10:D13.4 UMLS:C5680136 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566841 Liver adenomatosis ORPHA:566841 ICD-10:D13.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680136 E (Exact mapping: the two concepts are equivalent) AP/AT spectum A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. Orphanet ICD-10:Q04.3 ICD-11:LA05.Y UMLS:C5680135 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566847 Aprosencephaly/atelencephaly spectrum ORPHA:566847 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680135 E (Exact mapping: the two concepts are equivalent) Atelencephalic microcephaly ICD-10:Q04.3 ICD-11:LA05.Y UMLS:C0431348 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566852 Atelencephaly Clinical subtype ORPHA:566852 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0431348 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 ICD-11:LA05.Y UMLS:C0431349 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566857 Aprosencephaly Clinical subtype ORPHA:566857 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0431349 E (Exact mapping: the two concepts are equivalent) Isomerism of left atrial appendage LAI A rare cardiac malformation characterized by both atrial appendages having the morphology of the left atrial appendage. It is associated with other anomalies of the heart, systemic and pulmonary veins, and other organ systems, including the gastrointestinal, respiratory, and genitourinary tract, as well as the spleen and immune system. Orphanet ICD-10:Q20.6 ICD-11:LA8Y UMLS:C0344694 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566862 Left sided atrial isomerism ORPHA:566862 ICD-10:Q20.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344694 E (Exact mapping: the two concepts are equivalent) Brailsford disease Mueller-Weiss osteonecrosis of the tarsal bone A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures. Orphanet ICD-10:M87.8 MedDRA:10082326 UMLS:C4761149 Adult Worldwide AND has_cases/families_value : 277.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566943 Mueller-Weiss syndrome ORPHA:566943 ICD-10:M87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10082326 E (Exact mapping: the two concepts are equivalent) UMLS:C4761149 E (Exact mapping: the two concepts are equivalent) 14q32.12 Ensembl:ENSG00000170270 HGNC:20356 OMIM:617436 Reactome:Q9BXV9 SwissProt:Q9BXV9 GON7 GON7 subunit of KEOPS complex 21q22.11 MGC134948 MGC134949 SH3 domain protein-1A SH3P17 Src homology 3 domain-containing protein human intersectin-SH3 domain-containing protein SH3P17 Ensembl:ENSG00000205726 HGNC:6183 OMIM:602442 Reactome:Q15811 SwissProt:Q15811 ITSN1 intersectin 1 22q11DS CATCH 22 Cayler cardiofacial syndrome Conotruncal anomaly face syndrome DiGeorge sequence DiGeorge syndrome Microdeletion 22q11.2 Monosomy 22q11 Sedlackova syndrome Shprintzen syndrome Takao syndrome Velocardiofacial syndrome A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Orphanet ICD-10:D82.1 ICD-11:LD44.N0 MeSH:D004062 MedDRA:10012979 OMIM:125520 OMIM:188400 OMIM:192430 UMLS:C0012236 Autosomal dominant All ages Europe AND has_birth_prevalence_average_value : 9.6 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 10.3 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 16.8 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 37.5 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567 22q11.2 deletion syndrome ORPHA:567 ICD-10:D82.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD44.N0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004062 E (Exact mapping: the two concepts are equivalent) MedDRA:10012979 E (Exact mapping: the two concepts are equivalent) OMIM:125520 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:188400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:192430 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0012236 E (Exact mapping: the two concepts are equivalent) BILU syndrome Hoffman syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. Orphanet ICD-10:Q87.8 MeSH:C563745 OMIM:609296 UMLS:C1836437 Antenatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563745 E (Exact mapping: the two concepts are equivalent) OMIM:609296 E (Exact mapping: the two concepts are equivalent) UMLS:C1836437 E (Exact mapping: the two concepts are equivalent) 3p24.2 TOPIIB top2beta Ensembl:ENSG00000077097 HGNC:11990 OMIM:126431 Reactome:Q02880 SwissProt:Q02880 TOP2B DNA topoisomerase II beta Idiopathic non-lupus FHN A rare idiopathic glomerular clinical syndrome characterized by diffuse renal lesions that are indistinguishable from the lesions observed in systemic lupus erythematosus (SLE) in the absence of circulating autoantibodies and other systemic features necessary to meet the classification criteria for SLE. Patients may present with nephrotic syndrome, abnormal urinary sediment, acute renal insufficiency, progressive glomerulonephritis, and hypertension. Some patients have been reported to develop a progression to SLE over time. Orphanet ICD-10:N05 UMLS:C5680132 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567544 Idiopathic non-lupus full-house nephropathy ORPHA:567544 ICD-10:N05 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680132 E (Exact mapping: the two concepts are equivalent) Idiopathic SSNS with secondary steroid resistance Secondary SRNS Secondary steroid-resistant nephrotic syndrome A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. Orphanet ICD-10:N04.8 UMLS:C5680131 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance ORPHA:567546 ICD-10:N04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680131 E (Exact mapping: the two concepts are equivalent) Idiopathic SRNS A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy. Orphanet ICD-10:N04.8 MeSH:C536404 OMIM:619263 Adolescent Adult Childhood Worldwide AND has_annual_incidence_average_value : 0.2582 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567548 Idiopathic steroid-resistant nephrotic syndrome ORPHA:567548 ICD-10:N04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536404 E (Exact mapping: the two concepts are equivalent) OMIM:619263 E (Exact mapping: the two concepts are equivalent) ICD-10:N04.8 UMLS:C5681293 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567550 Idiopathic multidrug-resistant nephrotic syndrome Clinical subtype ORPHA:567550 ICD-10:N04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681293 E (Exact mapping: the two concepts are equivalent) Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression ICD-10:N04.8 UMLS:C5680133 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy Clinical subtype ORPHA:567552 ICD-10:N04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680133 E (Exact mapping: the two concepts are equivalent) UMLS:C5681297 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567554 Systemic disease with glomerulopathy as a major feature Category ORPHA:567554 UMLS:C5681297 E (Exact mapping: the two concepts are equivalent) UMLS:C5681295 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567556 Genetic systemic disease with glomerulopathy as a major feature Category ORPHA:567556 UMLS:C5681295 E (Exact mapping: the two concepts are equivalent) UMLS:C5681296 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567558 Non-genetic systemic disease with glomerulopathy as a major feature Category ORPHA:567558 UMLS:C5681296 E (Exact mapping: the two concepts are equivalent) UMLS:C5681300 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567560 Systemic vasculitis associated with glomerulopathy Category ORPHA:567560 UMLS:C5681300 E (Exact mapping: the two concepts are equivalent) UMLS:C5681301 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567562 Disorder with multisystemic involvement and glomerulopathy Category ORPHA:567562 UMLS:C5681301 E (Exact mapping: the two concepts are equivalent) UMLS:C5681299 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567564 Nephrotic syndrome without extrarenal manifestations Category ORPHA:567564 UMLS:C5681299 E (Exact mapping: the two concepts are equivalent) PNAC A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension. Orphanet ICD-10:K76.8 ICD-11:DB99.60 MedDRA:10074151 UMLS:C3274301 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=567983 Parenteral nutrition-associated cholestasis ORPHA:567983 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB99.60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10074151 E (Exact mapping: the two concepts are equivalent) UMLS:C3274301 E (Exact mapping: the two concepts are equivalent) Lenz microphthalmia A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome. Orphanet ICD-10:Q11.2 ICD-11:LD21.0 MeSH:C537464 OMIM:300166 OMIM:309800 UMLS:C0796016 X-linked recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568 Microphthalmia, Lenz type ORPHA:568 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537464 E (Exact mapping: the two concepts are equivalent) OMIM:300166 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:309800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796016 E (Exact mapping: the two concepts are equivalent) UMLS:C5681302 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568041 Primary lymphedema without systemic or visceral involvement Category ORPHA:568041 UMLS:C5681302 E (Exact mapping: the two concepts are equivalent) UMLS:C5681304 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568044 Primary lymphedema with systemic or visceral involvement Category ORPHA:568044 UMLS:C5681304 E (Exact mapping: the two concepts are equivalent) UMLS:C5681303 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568047 Disorder with multisystemic involvement and primary lymphedema Category ORPHA:568047 UMLS:C5681303 E (Exact mapping: the two concepts are equivalent) A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association. Orphanet ICD-10:Q82.0 OMIM:613480 UMLS:C5681305 Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568051 GJC2-related late-onset primary lymphedema ORPHA:568051 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613480 E (Exact mapping: the two concepts are equivalent) UMLS:C5681305 E (Exact mapping: the two concepts are equivalent) Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome WILD syndrome A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported. Orphanet ICD-10:Q82.0 UMLS:C5568569 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5568569 E (Exact mapping: the two concepts are equivalent) Generalized lymphatic dysplasia of Fotiou PIEZO1-related LRHF/GLD PIEZO1-related generalized lymphatic dysplasia with systemic involvement PIEZO1-related lymphatic-related hydrops fetalis A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. Orphanet ICD-10:Q82.0 OMIM:616843 UMLS:C4225184 Autosomal recessive Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis ORPHA:568062 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616843 E (Exact mapping: the two concepts are equivalent) UMLS:C4225184 E (Exact mapping: the two concepts are equivalent) EPHB4-related LRHF/GLD EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients. Orphanet ICD-10:P83.2 OMIM:617300 UMLS:C5680140 Antenatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=568065 EPHB4-related lymphatic-related hydrops fetalis ORPHA:568065 ICD-10:P83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680140 E (Exact mapping: the two concepts are equivalent) 3q27.1 AP-2 mu 2 chain AP50 HA2 50 kDA subunit clathrin adaptor complex AP2, mu subunit clathrin assembly protein complex 2 medium chain clathrin coat adaptor protein AP50 clathrin-associated/assembly/adaptor protein, medium 1 mu2 plasma membrane adaptor AP-2 50kDA protein Ensembl:ENSG00000161203 HGNC:564 OMIM:601024 Reactome:Q96CW1 SwissProt:Q96CW1 AP2M1 adaptor related protein complex 2 subunit mu 1 7q22.3 HDCMC04P SETD5B Ensembl:ENSG00000005483 HGNC:18541 IUPHAR:2692 OMIM:608444 Reactome:Q8IZD2 SwissProt:Q8IZD2 KMT2E lysine methyltransferase 2E (inactive) 11q22.3 MGC10235 TRM9 TRMT9A tRNA methyltransferase 9 related Ensembl:ENSG00000137760 HGNC:25189 OMIM:613306 SwissProt:Q96BT7 ALKBH8 alkB homolog 8, tRNA methyltransferase 17q11.2 FLJ14314 KIAA1361 MAP3K16 MARK kinase MARKK PSK2 TAO1 hKFC-B hTAOK1 prostate-derived sterile 20-like kinase 2 thousand and one amino acid protein kinase 1 Ensembl:ENSG00000160551 HGNC:29259 IUPHAR:2233 OMIM:610266 Reactome:Q7L7X3 SwissProt:Q7L7X3 TAOK1 TAO kinase 1 1q21.2 Ensembl:ENSG00000286219 HGNC:53924 OMIM:618025 SwissProt:P0DPK4 NOTCH2NLC notch 2 N-terminal like C 22q13.2 C25 KIAA1665 RPC8 Ensembl:ENSG00000100413 HGNC:30349 OMIM:619801 Reactome:Q9Y535 SwissProt:Q9Y535 POLR3H RNA polymerase III subunit H 17q25.3 DNEL2 FLJ40457 Ensembl:ENSG00000187775 HGNC:2946 OMIM:610063 SwissProt:Q9UFH2 DNAH17 dynein axonemal heavy chain 17 1p34.2 MGC45441 Ensembl:ENSG00000177868 HGNC:29204 OMIM:617853 SwissProt:Q8N300 SVBP small vasohibin binding protein A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). Orphanet ICD-10:G43.1 ICD-11:8A80.10 OMIM:141500 OMIM:602481 OMIM:607516 OMIM:609634 UMLS:C0270862 Autosomal dominant Childhood Denmark AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=569 Familial or sporadic hemiplegic migraine ORPHA:569 ICD-10:G43.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8A80.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:141500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602481 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607516 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609634 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0270862 E (Exact mapping: the two concepts are equivalent) AFH A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare. Orphanet ICD-10:D21.9 MeSH:C563181 UMLS:C1266127 Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=569164 Angiomatoid fibrous histiocytoma ORPHA:569164 ICD-10:D21.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563181 E (Exact mapping: the two concepts are equivalent) UMLS:C1266127 E (Exact mapping: the two concepts are equivalent) 5p13.3 threonine tRNA ligase 1, cytoplasmic Ensembl:ENSG00000113407 HGNC:11572 OMIM:187790 Reactome:P26639 SwissProt:P26639 TARS1 threonyl-tRNA synthetase 1 9q21.33 CCP1 KIAA1035 Nna1 carboxypeptidase-tubulin cytosolic carboxypeptidase 1 soluble carboxypeptidase tubulinyl-Tyr carboxypeptidase tyrosine carboxypeptidase Ensembl:ENSG00000135049 HGNC:17258 OMIM:606830 Reactome:Q9UPW5 SwissProt:Q9UPW5 AGTPBP1 ATP/GTP binding carboxypeptidase 1 12q15 CC chemokine receptor 4-negative regulator of transcription 2 CDC36 NOT2H Ensembl:ENSG00000111596 HGNC:7878 OMIM:604909 Reactome:Q9NZN8 SwissProt:Q9NZN8 CNOT2 CCR4-NOT transcription complex subunit 2 MCST A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis. Orphanet ICD-10:D27 UMLS:C3838965 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=569248 Microcystic stromal tumor ORPHA:569248 ICD-10:D27 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3838965 E (Exact mapping: the two concepts are equivalent) 2q13 APC1 MCPR TSG24 Ensembl:ENSG00000153107 HGNC:19988 OMIM:608473 Reactome:Q9H1A4 SwissProt:Q9H1A4 ANAPC1 anaphase promoting complex subunit 1 9q21.12-q21.13 GON-2 KIAA1616 LTRPC3 melastatin 2 Ensembl:ENSG00000083067 HGNC:17992 IUPHAR:495 OMIM:608961 Reactome:Q9HCF6 SwissProt:Q9HCF6 TRPM3 transient receptor potential cation channel subfamily M member 3 ISCA1 deficiency MMDS5 A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Orphanet ICD-10:E88.8 ICD-11:5C53.21 OMIM:617613 UMLS:C4539919 Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=569274 Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617613 E (Exact mapping: the two concepts are equivalent) UMLS:C4539919 E (Exact mapping: the two concepts are equivalent) PMPCB deficiency A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Orphanet ICD-10:E88.8 ICD-11:5C53.21 OMIM:617954 UMLS:C4693741 Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=569290 Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617954 E (Exact mapping: the two concepts are equivalent) UMLS:C4693741 E (Exact mapping: the two concepts are equivalent) 3q27.1 FLJ10201 FLJ12841 FLJ13308 KIAA1197 Ensembl:ENSG00000163872 HGNC:25489 OMIM:613373 Reactome:Q9ULM3 SwissProt:Q9ULM3 YEATS2 YEATS domain containing 2 2q35 DKFZp434O0527 MGC35338 Ensembl:ENSG00000181378 HGNC:25325 OMIM:614270 SwissProt:Q6ZU64 CFAP65 cilia and flagella associated protein 65 Fazio-Londe disease Progressive bulbar palsy of childhood This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Riboflavin transporter deficiency MeSH:D010244 Progressive bulbar paralysis of childhood ORPHA:56965 MeSH:D010244 E (Exact mapping: the two concepts are equivalent) TSE Transmissible spongiform encephalopathy A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals. Orphanet MeSH:D017096 UMLS:C0162534 Adult Europe AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=56970 Human prion disease Category ORPHA:56970 MeSH:D017096 E (Exact mapping: the two concepts are equivalent) UMLS:C0162534 E (Exact mapping: the two concepts are equivalent) 16q22.1 MIR-140 hsa-mir-140 Ensembl:ENSG00000208017 HGNC:31527 OMIM:611894 MIR140 microRNA 140 11q21 MRS1 PX1 UNQ2529 innexin Ensembl:ENSG00000110218 HGNC:8599 IUPHAR:735 OMIM:608420 Reactome:Q96RD7 SwissProt:Q96RD7 PANX1 pannexin 1 A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. Orphanet ICD-10:Q82.0 OMIM:619319 UMLS:C5681848 Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=569816 CELSR1-related late-onset primary lymphedema ORPHA:569816 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619319 E (Exact mapping: the two concepts are equivalent) UMLS:C5681848 E (Exact mapping: the two concepts are equivalent) VEGFC-related congenital primary lymphedema A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy. Orphanet ICD-10:Q82.0 ICD-11:BD93.0 OMIM:615907 UMLS:C5680138 Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=569821 Congenital primary lymphedema of Gordon ORPHA:569821 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615907 E (Exact mapping: the two concepts are equivalent) UMLS:C5680138 E (Exact mapping: the two concepts are equivalent) 19p13.13 FLJ20244 TRM1 Ensembl:ENSG00000104907 HGNC:25980 OMIM:611669 Reactome:Q9NXH9 SwissProt:Q9NXH9 TRMT1 tRNA methyltransferase 1 17q25.1 ER Mg2+ ATPase ERMA Ensembl:ENSG00000177728 HGNC:28983 OMIM:618163 Reactome:Q12767 SwissProt:Q12767 TMEM94 transmembrane protein 94 1q21.3 LPSB hSBP hSP56 methanethiol oxidase Ensembl:ENSG00000143416 HGNC:10719 OMIM:604188 Reactome:Q13228 SwissProt:Q13228 SELENBP1 selenium binding protein 1 16q21 AD-005 CDC39 KIAA1007 NOT1H Ensembl:ENSG00000125107 HGNC:7877 OMIM:604917 Reactome:A5YKK6 SwissProt:A5YKK6 CNOT1 CCR4-NOT transcription complex subunit 1 GSD due to aldolase A deficiency GSD type 12 GSD type XII Glycogen storage disease type 12 Glycogen storage disease type XII Glycogenosis due to aldolase A deficiency Glycogenosis type 12 Glycogenosis type XII Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:C562718 OMIM:611881 UMLS:C0272066 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=57 Glycogen storage disease due to aldolase A deficiency ORPHA:57 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562718 E (Exact mapping: the two concepts are equivalent) OMIM:611881 E (Exact mapping: the two concepts are equivalent) UMLS:C0272066 E (Exact mapping: the two concepts are equivalent) Möbius syndrome A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:D020331 MedDRA:10030069 OMIM:157900 UMLS:C0221060 Autosomal dominant Antenatal Neonatal Italy AND has_birth_prevalence_average_value : 0.06 AND has_birth_prevalence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.27 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 2.12 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570 Moebius syndrome ORPHA:570 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020331 E (Exact mapping: the two concepts are equivalent) MedDRA:10030069 E (Exact mapping: the two concepts are equivalent) OMIM:157900 E (Exact mapping: the two concepts are equivalent) UMLS:C0221060 E (Exact mapping: the two concepts are equivalent) Bartter syndrome type V Transient antenatal Bartter syndrome A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life. Orphanet ICD-10:E26.8 ICD-11:GB90.43 OMIM:300971 UMLS:C5680366 Antenatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570371 Bartter syndrome type 5 Clinical subtype ORPHA:570371 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.43 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300971 E (Exact mapping: the two concepts are equivalent) UMLS:C5680366 E (Exact mapping: the two concepts are equivalent) GALM deficiency Galactosemia type 4 A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet. Orphanet ICD-10:E88.8 ICD-11:5C51.4Y OMIM:618881 UMLS:C5394377 Infancy Neonatal Japan AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570422 Galactose mutarotase deficiency ORPHA:570422 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618881 E (Exact mapping: the two concepts are equivalent) UMLS:C5394377 E (Exact mapping: the two concepts are equivalent) HHV-8-negative multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease ICD-10:D47.7 ICD-11:4B2Y UMLS:C5197665 All ages United States AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570431 Idiopathic multicentric Castleman disease Clinical subtype ORPHA:570431 ICD-10:D47.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5197665 E (Exact mapping: the two concepts are equivalent) Human herpesvirus-8-associated multicentric Castleman disease ICD-10:D47.7 ICD-11:2A81.Y ICD-11:XH5HJ5 UMLS:C5197664 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570438 HHV-8-associated multicentric Castleman disease Clinical subtype ORPHA:570438 ICD-10:D47.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH5HJ5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5197664 E (Exact mapping: the two concepts are equivalent) A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure. Orphanet ICD-10:T62.2 UMLS:C1443942 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570470 Ricin poisoning ORPHA:570470 ICD-10:T62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1443942 E (Exact mapping: the two concepts are equivalent) QRSL1-related COXPD A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported. Orphanet ICD-10:E88.8 ICD-11:5C53.23 OMIM:618835 UMLS:C5394232 Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570491 QRSL1-related combined oxidative phosphorylation defect ORPHA:570491 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618835 E (Exact mapping: the two concepts are equivalent) UMLS:C5394232 E (Exact mapping: the two concepts are equivalent) Bacterial endocarditis Infectious endocarditis A rare bacterial infectious disease characterized by infection of a native or prosthetic heart valve, the endocardial surface, or an indwelling cardiac device. Main causative agents are Gram-positive bacteria, most commonly <i>Staphylococcus</i> and <i>Streptococcus</i> species. Signs and symptoms include high fever or prolonged subfebrile state, excessive sweating, malaise, asthenia, arthralgia, myalgia, weight loss, headache, nausea, dyspnea, cough, heart murmurs, and petechiae of the skin. The most common complications are embolism in different organs and ischemic stroke, sepsis, heart failure, and renal failure. Orphanet ICD-10:I33.0 ICD-11:BB40 MedDRA:10014678 UMLS:C1541923 All ages Denmark AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 3.38 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=570762 Infective endocarditis ORPHA:570762 ICD-10:I33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:BB40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10014678 E (Exact mapping: the two concepts are equivalent) UMLS:C1541923 E (Exact mapping: the two concepts are equivalent) Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing A rare primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). Orphanet ICD-10:G44.8 ICD-11:8A82 MeSH:D050798 MedDRA:10061981 UMLS:C1262087 Not applicable Adult Australia AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=57145 SUNCT syndrome ORPHA:57145 ICD-10:G44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D050798 E (Exact mapping: the two concepts are equivalent) MedDRA:10061981 E (Exact mapping: the two concepts are equivalent) UMLS:C1262087 E (Exact mapping: the two concepts are equivalent) UMLS:C5681272 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=57146 Rare hepatic disease Category Head of classification ORPHA:57146 UMLS:C5681272 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis OBSOLETE: Aseptic osteitis ORPHA:57194 Osteitis condensans of the clavicle A rare bone disease characterized by benign, usually unilateral, sclerosis of the inferomedial third of the clavicle. Patients present with localized swelling and persistent pain. Typical radiographic findings are expansion of the medial end of the clavicle with increased radio-density and signs of bone remodeling. Orphanet ICD-10:M85.3 ICD-11:LB72.Y UMLS:C5396729 Not applicable Adolescent Adult Childhood Worldwide AND has_cases/families_value : 58.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=57196 Medial condensing osteitis of the clavicle ORPHA:57196 ICD-10:M85.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5396729 E (Exact mapping: the two concepts are equivalent) Bare lymphocyte syndrome type 2 MHC class II deficiency A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. Orphanet ICD-10:D81.7 ICD-11:4A01.12 MeSH:C537079 OMIM:209920 UMLS:C2931418 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 179.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572 Immunodeficiency by defective expression of MHC class II ORPHA:572 ICD-10:D81.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537079 E (Exact mapping: the two concepts are equivalent) OMIM:209920 E (Exact mapping: the two concepts are equivalent) UMLS:C2931418 E (Exact mapping: the two concepts are equivalent) A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Orphanet ICD-10:Q04.8 OMIM:618325 UMLS:C5193029 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618325 E (Exact mapping: the two concepts are equivalent) UMLS:C5193029 E (Exact mapping: the two concepts are equivalent) 16p13.3 Ensembl:ENSG00000284395 HGNC:52293 OMIM:618656 SwissProt:A0A1W2PR82 PERCC1 proline and glutamate rich with coiled coil 1 11q23.3 RCK Rck/p54 Ensembl:ENSG00000110367 HGNC:2747 OMIM:600326 Reactome:P26196 SwissProt:P26196 DDX6 DEAD-box helicase 6 3q23 microdeletion syndrome BPES plus A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene <i>FOXL2</i>, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Orphanet ICD-10:Q10.3 ICD-11:LD44.30 UMLS:C5437588 Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437588 E (Exact mapping: the two concepts are equivalent) 10q22.2 FLJ25765 Ensembl:ENSG00000156042 HGNC:30726 OMIM:618661 SwissProt:Q5T0N1 CFAP70 cilia and flagella associated protein 70 15q25.2 BSN1 HsT19447 bn1 Ensembl:ENSG00000169594 HGNC:1081 OMIM:601930 SwissProt:Q01954 BNC1 basonuclin zinc finger protein 1 BPES type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure ICD-10:Q10.3 ICD-11:LD21.Y OMIM:110100 UMLS:C5680365 Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Clinical subtype ORPHA:572354 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:110100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680365 E (Exact mapping: the two concepts are equivalent) BPES type 2 Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure ICD-10:Q10.3 ICD-11:LD21.Y OMIM:110100 UMLS:C5680363 Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Clinical subtype ORPHA:572361 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:110100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680363 E (Exact mapping: the two concepts are equivalent) 5p15.2 E3 ubiquitin-protein ligase MARCHF6 MARCH-VI RNF176 TEB4 ring finger protein 176 Ensembl:ENSG00000145495 HGNC:30550 OMIM:613297 Reactome:O60337 SwissProt:O60337 MARCHF6 membrane associated ring-CH-type finger 6 A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C566196 OMIM:113000 UMLS:C1862112 Antenatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572385 Brachydactyly type B1 Clinical subtype ORPHA:572385 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C566196 E (Exact mapping: the two concepts are equivalent) OMIM:113000 E (Exact mapping: the two concepts are equivalent) UMLS:C1862112 E (Exact mapping: the two concepts are equivalent) 3p21.31 FLJ11214 KIAA0890 Ensembl:ENSG00000132153 HGNC:16716 OMIM:616423 Reactome:Q7L2E3 SwissProt:Q7L2E3 DHX30 DExH-box helicase 30 11q22.3 GLUR4C GLURD GluA4 GluR-4 GluR-D Glutamate receptor 4 Ensembl:ENSG00000152578 HGNC:4574 IUPHAR:447 OMIM:138246 Reactome:P48058 SwissProt:P48058 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 Xq22.1 FTP3 HNRPH' hnRNPH' Ensembl:ENSG00000126945 HGNC:5042 OMIM:300610 Reactome:P55795 SwissProt:P55795 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. Orphanet ICD-10:J84.0 OMIM:618042 UMLS:C5680364 Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia ORPHA:572428 ICD-10:J84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618042 E (Exact mapping: the two concepts are equivalent) UMLS:C5680364 E (Exact mapping: the two concepts are equivalent) 4q27 FLJ21404 FSA KIAA1371 Tweek fragile site-associated Ensembl:ENSG00000138688 HGNC:26953 OMIM:611565 SwissProt:Q2LD37 BLTP1 bridge-like lipid transfer protein family member 1 7q22.1 MAS1 MPPB MPPP52 beta-MPP Ensembl:ENSG00000105819 HGNC:9119 OMIM:603131 Reactome:O75439 SwissProt:O75439 PMPCB peptidase, mitochondrial processing subunit beta RTD2 Riboflavin transporter deficiency 2 ICD-10:G12.1 ICD-11:LD2H.Y OMIM:211530 UMLS:C0796274 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572543 RFVT2-related riboflavin transporter deficiency Clinical subtype ORPHA:572543 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:211530 E (Exact mapping: the two concepts are equivalent) UMLS:C0796274 E (Exact mapping: the two concepts are equivalent) RTD3 Riboflavin transporter deficiency 3 ICD-10:G12.1 ICD-11:LD2H.Y OMIM:614707 UMLS:C3553538 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572550 RFVT3-related riboflavin transporter deficiency Clinical subtype ORPHA:572550 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614707 E (Exact mapping: the two concepts are equivalent) UMLS:C3553538 E (Exact mapping: the two concepts are equivalent) A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. Orphanet ICD-10:Q87.1 OMIM:617604 UMLS:C5681722 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 51.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617604 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681722 E (Exact mapping: the two concepts are equivalent) MIMIS A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe intrauterine growth retardation, profound microcephaly, dysmorphic craniofacial features (such as craniosynostosis and distinctive facial appearance with short palpebral fissures, broad and beaked nose, microstomia, micrognathia, low-set ears, and short neck), and variable malformations of the limbs, especially the arms. Cardiac, gastrointestinal, and genitourinary anomalies have also been reported. Brain imaging shows gray and white matter abnormalities and hypoplastic or absent corpus callosum. The disease is commonly fatal in the fetal to neonatal period due to respiratory failure. Orphanet ICD-10:Q87.1 MeSH:C565382 OMIM:251230 UMLS:C1855079 Antenatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572768 Microcephaly-micromelia syndrome Clinical subtype ORPHA:572768 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565382 E (Exact mapping: the two concepts are equivalent) OMIM:251230 E (Exact mapping: the two concepts are equivalent) UMLS:C1855079 E (Exact mapping: the two concepts are equivalent) MISSLA A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly, intrauterine growth retardation, short stature and variable limb anomalies such as radial ray defects, short limbs, absent/hypoplastic patellae, syndactyly, brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose, microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal. Orphanet ICD-10:Q87.1 OMIM:617604 Antenatal Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572773 Microcephaly-short stature-limb abnormalities syndrome Clinical subtype ORPHA:572773 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617604 E (Exact mapping: the two concepts are equivalent) Mitochondrial tryptophanyl-tRNA synthetase deficiency A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, and with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. Orphanet ICD-10:E88.8 ICD-11:5C53.2Y OMIM:617710 UMLS:C4540192 Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=572798 WARS2-related combined oxidative phosphorylation defect ORPHA:572798 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617710 E (Exact mapping: the two concepts are equivalent) UMLS:C4540192 E (Exact mapping: the two concepts are equivalent) Moniliform hair syndrome A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. Orphanet ICD-10:Q84.1 ICD-11:EC21.0 MeSH:D056734 OMIM:158000 UMLS:C0546966 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=573 Monilethrix ORPHA:573 ICD-10:Q84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EC21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056734 E (Exact mapping: the two concepts are equivalent) OMIM:158000 E (Exact mapping: the two concepts are equivalent) UMLS:C0546966 E (Exact mapping: the two concepts are equivalent) 3q13.2 Ensembl:ENSG00000176542 HGNC:30494 OMIM:617568 SwissProt:Q68DE3 USF3 upstream transcription factor family member 3 A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications. Orphanet UMLS:C5681712 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=573163 Pheochromocytoma-paraganglioma Clinical group ORPHA:573163 UMLS:C5681712 E (Exact mapping: the two concepts are equivalent) Diplomyelia SCM type 2 SCM type II Split cord malformation type 2 A rare subtype of split cord malformation characterized by both hemicords included in the same single dural sac. An intradural intervening mesenchymal septum may be present. Orphanet ICD-10:Q06.2 ICD-11:LA07.1 UMLS:C5680360 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=573253 Split cord malformation type II ORPHA:573253 ICD-10:Q06.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA07.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680360 E (Exact mapping: the two concepts are equivalent) SCM A rare malformation characterized by localized longitudinal division of the spinal cord into two "hemicords". Vertebro-costal anomalies are commonly associated. Classic overlying skin stigmata is a focal hypertrichosis/hairy patch. Split cord malformations may be associated with other dysraphic anomalies (eg: filum lipoma). Orphanet ICD-10:Q06.2 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=573278 Split cord malformation Clinical group ORPHA:573278 ICD-10:Q06.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). 21q- syndrome Partial 21q monosomy Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. Orphanet ICD-10:Q93.0 ICD-11:LD44.M MeSH:C537108 UMLS:C0795875 Antenatal Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=574 21q deletion syndrome ORPHA:574 ICD-10:Q93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.M - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537108 E (Exact mapping: the two concepts are equivalent) UMLS:C0795875 E (Exact mapping: the two concepts are equivalent) 22q12.2 AP105A BAM22 Ensembl:ENSG00000100280 HGNC:554 OMIM:600157 Reactome:Q10567 SwissProt:Q10567 AP1B1 adaptor related protein complex 1 subunit beta 1 A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. Orphanet ICD-10:D84.8 OMIM:616345 UMLS:C5681719 Autosomal recessive All ages Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=574918 Predisposition to severe viral infection due to IRF7 deficiency ORPHA:574918 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616345 E (Exact mapping: the two concepts are equivalent) UMLS:C5681719 E (Exact mapping: the two concepts are equivalent) MSMD due to partial JAK1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association. Orphanet ICD-10:D84.8 ICD-11:4A00.2 UMLS:C5680361 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=574957 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency ORPHA:574957 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680361 E (Exact mapping: the two concepts are equivalent) Neutrophilic urticaria Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). Orphanet ICD-10:E85.0 ICD-11:4A60.1 MedDRA:10064569 OMIM:191900 UMLS:C0268390 Autosomal dominant Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown Worldwide AND has_cases/families_value : 200.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=575 Muckle-Wells syndrome ORPHA:575 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064569 E (Exact mapping: the two concepts are equivalent) OMIM:191900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268390 E (Exact mapping: the two concepts are equivalent) 6q14.1 FLJ20037 Ensembl:ENSG00000112773 HGNC:18345 OMIM:611357 Reactome:Q96IP4 SwissProt:Q96IP4 TENT5A terminal nucleotidyltransferase 5A CARASAL A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. Orphanet ICD-10:I67.8 UMLS:C5680354 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy ORPHA:575553 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680354 E (Exact mapping: the two concepts are equivalent) I-cell disease Mucolipidosis type II alpha/beta N-acetylglucosamine 1-phosphotransferase deficiency A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay. Orphanet ICD-10:E77.0 ICD-11:5C56.20 MeSH:C538602 MedDRA:10072928 OMIM:252500 UMLS:C0020725 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.81 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576 Mucolipidosis type II ORPHA:576 ICD-10:E77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538602 E (Exact mapping: the two concepts are equivalent) MedDRA:10072928 E (Exact mapping: the two concepts are equivalent) OMIM:252500 E (Exact mapping: the two concepts are equivalent) UMLS:C0020725 E (Exact mapping: the two concepts are equivalent) MERS A rare infectious disease caused by Middle East respiratory syndrome coronavirus (MERS&#8208;CoV) and characterized by a spectrum of illness, ranging from mild upper respiratory symptoms to rapidly progressive lower respiratory infection/pneumonia potentially leading to acute respiratory distress syndrome (ARDS), multi-system organ failure, and death. Presenting signs and symptoms typically include fever, cough, shortness of breath, chills, dyspnea, myalgia, abdominal pain, nausea, vomiting, and diarrhea. Orphanet ICD-10:B34.2 ICD-11:1D64 ICD-11:XN3BD MeSH:D065207 MedDRA:10075271 UMLS:C3694279 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576074 Middle East respiratory syndrome ORPHA:576074 ICD-10:B34.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D64 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XN3BD - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065207 E (Exact mapping: the two concepts are equivalent) MedDRA:10075271 E (Exact mapping: the two concepts are equivalent) UMLS:C3694279 E (Exact mapping: the two concepts are equivalent) Balanced complete atrioventricular canal CAVC without ventricular hypoplasia Complete AVSD without ventricular hypoplasia Complete atrioventricular canal defect without ventricular hypoplasia Complete atrioventricular septal defect with balanced ventricles ICD-10:Q21.2 UMLS:C5680353 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576227 Complete atrioventricular septal defect without ventricular hypoplasia Clinical subtype ORPHA:576227 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680353 E (Exact mapping: the two concepts are equivalent) PAVC with ventricular hypoplasia Partial AVSD with ventricular hypoplasia Partial atrioventricular canal defect with ventricular hypoplasia Partial atrioventricular septal defect with ventricular imbalance Unbalanced partial atrioventricular canal ICD-10:Q21.2 UMLS:C5680351 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576232 Partial atrioventricular septal defect with ventricular hypoplasia Clinical subtype ORPHA:576232 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680351 E (Exact mapping: the two concepts are equivalent) Balanced partial atrioventricular canal PAVC without ventricular hypoplasia Partial AVSD without ventricular hypoplasia Partial atrioventricular canal defect without ventricular hypoplasia Partial atrioventricular septal defect with balanced ventricles ICD-10:Q21.2 UMLS:C5680352 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576235 Partial atrioventricular septal defect without ventricular hypoplasia Clinical subtype ORPHA:576235 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680352 E (Exact mapping: the two concepts are equivalent) Intermediate AVSD Intermediate atrioventricular canal defect Transitional atrioventricular canal defect A rare congenital non-syndromic heart malformation characterized by a common atrioventricular junction with a single atrioventricular valve ring, accompanied by an ostium primum type atrial septal defect and a small ventricular septal defect. Orphanet ICD-10:Q21.2 ICD-11:LA87.42 UMLS:C4023291 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576242 Intermediate atrioventricular septal defect ORPHA:576242 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4023291 E (Exact mapping: the two concepts are equivalent) SAS A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging. Orphanet ICD-10:Q87.8 MedDRA:10083270 OMIM:612313 UMLS:C5243581 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 171.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576278 SATB2-associated syndrome ORPHA:576278 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10083270 E (Exact mapping: the two concepts are equivalent) OMIM:612313 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5243581 E (Exact mapping: the two concepts are equivalent) SATB2-associated syndrome due to a point mutation ICD-10:Q87.8 OMIM:612313 UMLS:C5680358 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576283 SATB2-associated syndrome due to a pathogenic variant Etiological subtype ORPHA:576283 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612313 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680358 E (Exact mapping: the two concepts are equivalent) FCAS4 Familial cold autoinflammatory syndrome 4 NLRC4-related familial cold urticaria A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases. Orphanet ICD-10:D89.8 ICD-11:4A60.1 OMIM:616115 UMLS:C4015276 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576349 NLRC4-related familial cold autoinflammatory syndrome ORPHA:576349 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616115 E (Exact mapping: the two concepts are equivalent) UMLS:C4015276 E (Exact mapping: the two concepts are equivalent) Idiopathic human prion disease UMLS:C5680356 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576356 Sporadic human prion disease Category ORPHA:576356 UMLS:C5680356 E (Exact mapping: the two concepts are equivalent) Infectious human prion disease UMLS:C5680357 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576360 Acquired human prion disease Category ORPHA:576360 UMLS:C5680357 E (Exact mapping: the two concepts are equivalent) Variant MCJ vCJD A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum. Orphanet ICD-10:A81.0 ICD-11:8E01.2 MedDRA:10064199 UMLS:C0376329 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576370 Variant Creutzfeldt-Jakob disease ORPHA:576370 ICD-10:A81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8E01.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10064199 E (Exact mapping: the two concepts are equivalent) UMLS:C0376329 E (Exact mapping: the two concepts are equivalent) Iatrogenic MCJ iCJD A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein. Orphanet ICD-10:A81.0 ICD-11:8E01.0 UMLS:C2349757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576379 Iatrogenic Creutzfeldt-Jakob disease ORPHA:576379 ICD-10:A81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8E01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2349757 E (Exact mapping: the two concepts are equivalent) Genetic HUS UMLS:C5680355 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=576742 Genetic hemolytic uremic syndrome Category ORPHA:576742 UMLS:C5680355 E (Exact mapping: the two concepts are equivalent) Pseudo-Hurler polydystrophy A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII). Orphanet ICD-10:E77.0 ICD-11:5C56.20 MedDRA:10072929 OMIM:252600 OMIM:252605 UMLS:C0033788 Autosomal recessive Childhood Europe AND has_annual_incidence_average_value : 0.985 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 29.55 AND has_point_prevalence_range : 1-5 / 10 000 Netherlands AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 1.68 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 50.4 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=577 Mucolipidosis type III ORPHA:577 ICD-10:E77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10072929 E (Exact mapping: the two concepts are equivalent) OMIM:252600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252605 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0033788 E (Exact mapping: the two concepts are equivalent) 9q34.3 Beta2 class IVb beta-tubulin Ensembl:ENSG00000188229 HGNC:20771 IUPHAR:2641 OMIM:602660 Reactome:P68371 SwissProt:P68371 TUBB4B tubulin beta 4B class IVb This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cirrhotic cardiomyopathy ORPHA:57777 Myxoma with fibrous dysplasia Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported. Orphanet ICD-10:M85.0 ICD-11:FB80.0 MedDRA:10081724 UMLS:C3697137 Not applicable Adult Worldwide AND has_cases/families_value : 54.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=57782 Mazabraud syndrome ORPHA:57782 ICD-10:M85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081724 E (Exact mapping: the two concepts are equivalent) UMLS:C3697137 E (Exact mapping: the two concepts are equivalent) A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features. Orphanet ICD-10:E75.1 ICD-11:5C56.0Y MedDRA:10072930 OMIM:252650 UMLS:C0238286 Autosomal recessive Infancy Specific population AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=578 Mucolipidosis type IV ORPHA:578 ICD-10:E75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10072930 E (Exact mapping: the two concepts are equivalent) OMIM:252650 E (Exact mapping: the two concepts are equivalent) UMLS:C0238286 E (Exact mapping: the two concepts are equivalent) Alpha-L-iduronidase deficiency MPS1 MPSI Mucopolysaccharidosis type I Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype. Orphanet ICD-10:E76.0 ICD-11:5C56.30 MeSH:D008059 MedDRA:10056886 OMIM:607014 OMIM:607015 OMIM:607016 UMLS:C0023786 Autosomal recessive All ages Australia AND has_birth_prevalence_average_value : 1.14 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.58 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.54 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.69 AND has_birth_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 1.19 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 1.85 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 31.0 AND has_point_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.33 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 3.62 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 8.7 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000 Tunisia AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 1.07 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.82 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=579 Mucopolysaccharidosis type 1 ORPHA:579 ICD-10:E76.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C56.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008059 E (Exact mapping: the two concepts are equivalent) MedDRA:10056886 E (Exact mapping: the two concepts are equivalent) OMIM:607014 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607015 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607016 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0023786 E (Exact mapping: the two concepts are equivalent) AxD A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. Orphanet ICD-10:G93.8 ICD-11:8A44.2 MeSH:D038261 MedDRA:10083059 OMIM:203450 UMLS:C0270726 Autosomal dominant All ages Japan AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=58 Alexander disease ORPHA:58 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D038261 E (Exact mapping: the two concepts are equivalent) MedDRA:10083059 E (Exact mapping: the two concepts are equivalent) OMIM:203450 E (Exact mapping: the two concepts are equivalent) UMLS:C0270726 E (Exact mapping: the two concepts are equivalent) Hunter syndrome Iduronate 2-sulfatase deficiency MPS2 MPSII Mucopolysaccharidosis type II A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement. Orphanet ICD-10:E76.1 ICD-11:5C56.31 MeSH:D016532 MedDRA:10056889 OMIM:309900 UMLS:C0026705 X-linked recessive Childhood Australia AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000 Brazil AND has_birth_prevalence_average_value : 0.37 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 9.1 AND has_point_prevalence_range : 1-9 / 100 000 Estonia AND has_birth_prevalence_average_value : 2.16 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 1.21 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.84 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.09 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 6.5 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 1.07 AND has_birth_prevalence_range : 1-9 / 100 000 Tunisia AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.26 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.68 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=580 Mucopolysaccharidosis type 2 ORPHA:580 ICD-10:E76.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C56.31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016532 E (Exact mapping: the two concepts are equivalent) MedDRA:10056889 E (Exact mapping: the two concepts are equivalent) OMIM:309900 E (Exact mapping: the two concepts are equivalent) UMLS:C0026705 E (Exact mapping: the two concepts are equivalent) HCL-C Leukemic reticuloendotheliosis A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases. Orphanet ICD-10:C91.4 ICD-11:2A82.2 MeSH:D007943 MedDRA:10019053 UMLS:C0023443 Unknown Adult Denmark AND has_annual_incidence_average_value : 0.37 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.29 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 3.12 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Hong Kong AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.47 AND has_annual_incidence_range : 1-9 / 1 000 000 Israel AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.29 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=58017 Classic hairy cell leukemia ORPHA:58017 ICD-10:C91.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A82.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007943 E (Exact mapping: the two concepts are equivalent) MedDRA:10019053 E (Exact mapping: the two concepts are equivalent) UMLS:C0023443 E (Exact mapping: the two concepts are equivalent) A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone. Orphanet ICD-10:D16.0 ICD-10:D16.1 ICD-10:D16.3 ICD-10:D16.4 ICD-10:D16.5 ICD-10:D16.6 ICD-10:D16.7 ICD-10:D16.8 ICD-11:2E83.Z MeSH:D018215 MedDRA:10004430 UMLS:C0029417 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=58040 Osteoblastoma ORPHA:58040 ICD-10:D16.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D16.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D16.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D16.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D16.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D16.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D16.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D16.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E83.Z - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018215 E (Exact mapping: the two concepts are equivalent) MedDRA:10004430 E (Exact mapping: the two concepts are equivalent) UMLS:C0029417 E (Exact mapping: the two concepts are equivalent) ITPN A rare epithelial tumor of pancreas characterized by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumors occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumor type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas. Orphanet ICD-10:C25.8 UMLS:C2987189 Adult Elderly Worldwide AND has_annual_incidence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=580572 Intraductal tubulopapillary neoplasm of pancreas ORPHA:580572 ICD-10:C25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2987189 E (Exact mapping: the two concepts are equivalent) 5q35.1 BTRC2 BTRCP2 Fbw11 Fbw1b Hos KIAA0696 Ensembl:ENSG00000072803 HGNC:13607 OMIM:605651 Reactome:Q9UKB1 SwissProt:Q9UKB1 FBXW11 F-box and WD repeat domain containing 11 2p22.1 aldose 1-epimerase aldose mutarotase galactomutarotase Ensembl:ENSG00000143891 HGNC:24063 OMIM:137030 SwissProt:Q96C23 GALM galactose mutarotase 1p34.3 620 kDa actin binding protein ABP620 ACF7 FLJ45612 FLJ46776 KIAA0465 KIAA1251 Lnc-PMIF MACF actin cross-linking factor actin cross-linking family protein 7 macrophin 1 postulated migration inhibitory factor trabeculin-alpha Ensembl:ENSG00000127603 HGNC:13664 OMIM:608271 Reactome:Q9UPN3 SwissProt:Q9UPN3 MACF1 microtubule actin crosslinking factor 1 11q23.2 FLJ13859 FLJ20535 TPARM tetratricopeptide repeat and armadillo repeat protein Ensembl:ENSG00000149292 HGNC:23700 OMIM:610732 SwissProt:Q9H892 TTC12 tetratricopeptide repeat domain 12 3q23 I-plastin Plastin-1 fimbrin Ensembl:ENSG00000120756 HGNC:9090 OMIM:602734 Reactome:Q14651 SwissProt:Q14651 PLS1 plastin 1 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. Orphanet ICD-10:Q87.8 UMLS:C5681706 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=580933 Lethal brain and heart developmental defects ORPHA:580933 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681706 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. Orphanet ICD-10:Q87.8 OMIM:617982 UMLS:C4693824 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=580940 QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617982 E (Exact mapping: the two concepts are equivalent) UMLS:C4693824 E (Exact mapping: the two concepts are equivalent) 4q31.22 NYD-SP14 Ensembl:ENSG00000137473 HGNC:29936 OMIM:618735 SwissProt:Q8NA56 TTC29 tetratricopeptide repeat domain 29 A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females. Orphanet ICD-10:H31.0 ICD-11:9B65.0 UMLS:C0730321 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=580951 Punctate inner choroidopathy ORPHA:580951 ICD-10:H31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0730321 E (Exact mapping: the two concepts are equivalent) MPS3 MPSIII Mucopolysaccharidosis type III Sanfilippo disease Sanfilippo syndrome A group of rare lysosomal storage diseases characterized by progressive neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type&nbsp;3 (MPS&nbsp;III, Sanfilippo syndrome) called Sanfilippo syndrome type A, B, C, and D. Each subtype is caused by deficiency of a particular enzyme involved in the degradation of heparan sulfate leading to substrate accumulation and cellular dysfunction. Orphanet ICD-10:E76.2 ICD-11:5C56.3Y MeSH:D009084 MedDRA:10056890 OMIM:252900 OMIM:252920 OMIM:252930 OMIM:252940 UMLS:C0026706 Autosomal recessive Childhood Australia AND has_birth_prevalence_average_value : 1.42 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.91 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000 Estonia AND has_birth_prevalence_average_value : 1.62 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.87 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 1.57 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 0.36 AND has_birth_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.26 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 1.89 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.88 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_birth_prevalence_average_value : 0.86 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.84 AND has_birth_prevalence_range : 1-9 / 1 000 000 Saudi Arabia AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.84 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 1.63 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.39 AND has_birth_prevalence_range : 1-9 / 1 000 000 Tunisia AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.26 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.071 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=581 Mucopolysaccharidosis type 3 ORPHA:581 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009084 E (Exact mapping: the two concepts are equivalent) MedDRA:10056890 E (Exact mapping: the two concepts are equivalent) OMIM:252900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252930 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252940 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0026706 E (Exact mapping: the two concepts are equivalent) A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed. Orphanet ICD-10:G90.8 UMLS:C0751381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=581271 Cramp-fasciculation syndrome ORPHA:581271 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0751381 E (Exact mapping: the two concepts are equivalent) 3p24.1 FLJ32685 Ensembl:ENSG00000163491 HGNC:18592 IUPHAR:2115 OMIM:618726 SwissProt:Q6ZWH5 NEK10 NIMA related kinase 10 MPS4 MPSIV Morquio disease Mucopolysaccharidosis type IV A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease. Orphanet ICD-10:E76.2 ICD-11:5C56.32 MeSH:D009085 MedDRA:10028095 OMIM:252300 OMIM:253000 OMIM:253010 UMLS:C0026707 Autosomal recessive Childhood Infancy Brazil AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.73 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 31.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 27.6 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.36 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 0.76 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 24.2 AND has_point_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Saudi Arabia AND has_birth_prevalence_average_value : 3.62 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 Switzerland AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.33 AND has_birth_prevalence_range : 1-9 / 1 000 000 Tunisia AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.038 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=582 Mucopolysaccharidosis type 4 ORPHA:582 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.32 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009085 E (Exact mapping: the two concepts are equivalent) MedDRA:10028095 E (Exact mapping: the two concepts are equivalent) OMIM:252300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:253000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:253010 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0026707 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Pericarditis ORPHA:58208 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inflammatory bowel disease OBSOLETE: Microscopic colitis ORPHA:58220 ARSB deficiency ASB deficiency Arylsulfatase B deficiency MPS6 MPSVI Maroteaux-Lamy disease Mucopolysaccharidosis type VI N-acetylgalactosamine 4-sulfatase deficiency Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. Orphanet ICD-10:E76.2 ICD-11:5C56.33 MeSH:D009087 MedDRA:10056892 OMIM:253200 UMLS:C0026709 Autosomal recessive Childhood Australia AND has_birth_prevalence_average_value : 0.37 AND has_birth_prevalence_range : 1-9 / 1 000 000 Brazil AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Colombia AND has_point_prevalence_average_value : 0.059 AND has_point_prevalence_range : <1 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Denmark AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Estonia AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.03 AND has_birth_prevalence_range : <1 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.019 AND has_birth_prevalence_range : <1 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 0.0132 AND has_birth_prevalence_range : <1 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.42 AND has_birth_prevalence_range : 1-9 / 1 000 000 Saudi Arabia AND has_birth_prevalence_average_value : 7.85 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 Tunisia AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Turkey AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.04 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.011 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583 Mucopolysaccharidosis type 6 ORPHA:583 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.33 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009087 E (Exact mapping: the two concepts are equivalent) MedDRA:10056892 E (Exact mapping: the two concepts are equivalent) OMIM:253200 E (Exact mapping: the two concepts are equivalent) UMLS:C0026709 E (Exact mapping: the two concepts are equivalent) CIL-F Facial infused lipomatosis Fibroadipose infiltrating lipomatosis A rare PIK3CA-related overgrowth syndrome characterized by congenital non-hereditary facial overgrowth due to post-zygotic activating mutations in the <i>PIK3CA</i> gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face, including hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Early eruption of the teeth is common. Orphanet ICD-10:Q87.3 ICD-11:EF02.1 UMLS:C5680341 Neonatal Worldwide AND has_cases/families_value : 59.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583097 Congenital infiltrating lipomatosis of the face ORPHA:583097 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF02.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680341 E (Exact mapping: the two concepts are equivalent) 8p23.1 Ang2 Ensembl:ENSG00000091879 HGNC:485 IUPHAR:5316 OMIM:601922 Reactome:O15123 SwissProt:O15123 ANGPT2 angiopoietin 2 A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. Orphanet ICD-10:E72.8 ICD-11:5C50.6 OMIM:601815 OMIM:610992 OMIM:614023 UMLS:C5681678 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583595 Serine biosynthesis pathway deficiency, infantile/juvenile form ORPHA:583595 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601815 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610992 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614023 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681678 E (Exact mapping: the two concepts are equivalent) Phosphoserine aminotransferase deficiency, prenatal form ICD-10:Q87.8 ICD-11:LD20.1 OMIM:616038 UMLS:C5680335 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Etiological subtype ORPHA:583602 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616038 E (Exact mapping: the two concepts are equivalent) UMLS:C5680335 E (Exact mapping: the two concepts are equivalent) 3-phosphoglycerate dehydrogenase deficiency, prenatal form ICD-10:Q87.8 ICD-11:LD20.1 OMIM:256520 UMLS:C5680336 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Etiological subtype ORPHA:583607 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:256520 E (Exact mapping: the two concepts are equivalent) UMLS:C5680336 E (Exact mapping: the two concepts are equivalent) 3-phosphoserine phosphatase deficiency, prenatal form ICD-10:Q87.8 ICD-11:LD20.1 UMLS:C5680338 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency Etiological subtype ORPHA:583612 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680338 E (Exact mapping: the two concepts are equivalent) A rare gastroenterologic disease characterized by isolated thrombotic obstruction of the splenic vein, typically due to pancreatic disorders, in particular acute or chronic pancreatitis or pancreatic neoplasms. It is the main cause of left-sided portal hypertension. Patients may be asymptomatic or present with abdominal pain, gastrointestinal bleeding, nausea, and vomiting, as well as signs of portal hypertension. Orphanet ICD-10:I82.8 ICD-11:DB98.4 UMLS:C5681680 Adult Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583856 Isolated splenic vein thrombosis ORPHA:583856 ICD-10:I82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB98.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681680 E (Exact mapping: the two concepts are equivalent) A rare intestinal disease characterized by isolated thrombosis of the mesenteric veins without involvement of the splenic or portal veins, potentially causing mesenteric ischemia. It may be primary/idiopathic or due to one or more local or systemic predisposing conditions, and may be acute/subacute or chronic, the latter being used for patients with symptoms lasting longer than 4 weeks but without bowel infarction, or patients without recent symptoms, where the thrombosis is an incidental finding. Symptoms depend on the extent and severity of thrombosis and often involve prolonged nonspecific abdominal complaints. Orphanet ICD-10:K55.0 ICD-11:DD30.2 UMLS:C5681682 Adult Elderly Europe AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown Finland AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 2.7 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=583861 Isolated mesenteric vein thrombosis ORPHA:583861 ICD-10:K55.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DD30.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681682 E (Exact mapping: the two concepts are equivalent) Beta-glucuronidase deficiency MPS7 MPSVII Mucopolysaccharidosis type VII Sly disease A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease. Orphanet ICD-10:E76.2 ICD-11:5C56.3Y MeSH:D016538 MedDRA:10056893 OMIM:253220 UMLS:C0085132 Autosomal recessive Adolescent Antenatal Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.047 AND has_birth_prevalence_range : <1 / 1 000 000 Brazil AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_birth_prevalence_average_value : 0.038 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.027 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.007 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=584 Mucopolysaccharidosis type 7 ORPHA:584 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016538 E (Exact mapping: the two concepts are equivalent) MedDRA:10056893 E (Exact mapping: the two concepts are equivalent) OMIM:253220 E (Exact mapping: the two concepts are equivalent) UMLS:C0085132 E (Exact mapping: the two concepts are equivalent) 5q13.3 CERT GPBP STARD11 StAR-related lipid transfer (START) domain containing 11 ceramide transporter Ensembl:ENSG00000113163 HGNC:2205 OMIM:604677 Reactome:Q9Y5P4 SwissProt:Q9Y5P4 CERT1 ceramide transporter 1 Austin disease MSD Mucosulfatidosis A rare lysosomal disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not). Clinical manifestations can include developmental delay, progressive neurologic deterioration, hydrocephalus, hypotonia, coarse facial features, retinopathy, skeletal anomalies, hepatomegaly and ichthyosis to a variable degree. Multiple sulfatase deficiency (MSD) comprises severe to attenuated forms historically classified as neonatal (most severe form), infantile (most common form) or juvenile (rarest form). Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MeSH:D052517 OMIM:272200 UMLS:C0268263 Autosomal recessive Adolescent Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 154.0 (Case(s)) Worldwide AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585 Multiple sulfatase deficiency ORPHA:585 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D052517 E (Exact mapping: the two concepts are equivalent) OMIM:272200 E (Exact mapping: the two concepts are equivalent) UMLS:C0268263 E (Exact mapping: the two concepts are equivalent) 10q24.32 Fbw4 dactylin Ensembl:ENSG00000107829 HGNC:10847 OMIM:608071 Reactome:P57775 SwissProt:P57775 FBXW4 F-box and WD repeat domain containing 4 15q24.2 Alpha-mannosidase 2C1 cytosolic a-mannosidase cytosolic alpha-mannosidase Ensembl:ENSG00000140400 HGNC:6827 OMIM:154580 Reactome:Q9NTJ4 SwissProt:Q9NTJ4 MAN2C1 mannosidase alpha class 2C member 1 14q24.3 EAP1 KIAA1865 enhanced at puberty 1 Ensembl:ENSG00000119669 HGNC:14282 OMIM:611720 Reactome:Q9H1B7 SwissProt:Q9H1B7 IRF2BPL interferon regulatory factor 2 binding protein like 11q13.1 K2p4.1 TRAAK Ensembl:ENSG00000182450 HGNC:6279 IUPHAR:516 OMIM:605720 Reactome:Q9NYG8 SwissProt:Q9NYG8 KCNK4 potassium two pore domain channel subfamily K member 4 13q13.3 BCL8B FLJ10197 KIAA1544 LYST2 Ensembl:ENSG00000172915 HGNC:7648 OMIM:604889 Reactome:Q8NFP9 SwissProt:Q8NFP9 NBEA neurobeachin 17q23.2-q23.3 DKFZP564D166 FLJ10215 FLJ11824 KIAA1148 KIAA1636 ROLSA rolling pebbles homolog B (Drosophila) rols Ensembl:ENSG00000170921 HGNC:30212 OMIM:615047 SwissProt:Q9HCD6 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 7q31.32 C-Lmod cardiac leiomodin Ensembl:ENSG00000170807 HGNC:6648 OMIM:608006 SwissProt:Q6P5Q4 LMOD2 leiomodin 2 6p22.2 H1.4 H1e H1s-4 Ensembl:ENSG00000168298 HGNC:4718 OMIM:142220 Reactome:P10412 SwissProt:P10412 H1-4 H1.4 linker histone, cluster member AML with BCR-ABL1 AML with t(9;22)(q34.1;q11.2) A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor. Orphanet ICD-10:C92.7 ICD-11:2A60.0 UMLS:C5680318 Adolescent Adult Childhood Elderly Infancy Neonatal Worldwide AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) ORPHA:585867 ICD-10:C92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680318 E (Exact mapping: the two concepts are equivalent) ICD-10:C91.0 UMLS:C2698313 Adolescent Adult Childhood Elderly Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality Etiological subtype ORPHA:585877 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2698313 E (Exact mapping: the two concepts are equivalent) B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1-like B-ALL Philadelphia chromosome-like B-ALL ICD-10:C91.0 ICD-11:2A70.1 UMLS:C5680319 Adolescent Adult Childhood Elderly Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) Etiological subtype ORPHA:585909 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680319 E (Exact mapping: the two concepts are equivalent) B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged ICD-10:C91.0 ICD-11:2A70.Y ICD-11:XH8GG0 Adolescent Adult Childhood Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) Etiological subtype ORPHA:585918 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH8GG0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ICD-10:C91.0 ICD-11:2A70.Y ICD-11:XH4KA2 Adolescent Adult Childhood Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) Etiological subtype ORPHA:585929 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH4KA2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C91.0 ICD-11:2A70.Y UMLS:C2698311 Adolescent Adult Childhood Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy Etiological subtype ORPHA:585936 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2698311 E (Exact mapping: the two concepts are equivalent) Hypodiploid ALL ICD-10:C91.0 ICD-11:2A70.Y UMLS:C2698312 Adolescent Adult Childhood Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy Etiological subtype ORPHA:585942 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2698312 E (Exact mapping: the two concepts are equivalent) B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH ICD-10:C91.0 ICD-11:2A70.Y ICD-11:XH4ZL2 Adolescent Adult Childhood Western Asia AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) Etiological subtype ORPHA:585948 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH4ZL2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 ICD-10:C91.0 ICD-11:2A70.Y ICD-11:XH3GU8 UMLS:C5680320 Adolescent Adult Childhood Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Etiological subtype ORPHA:585956 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH3GU8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680320 E (Exact mapping: the two concepts are equivalent) CF Mucoviscidosis A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature. Orphanet ICD-10:E84.0 ICD-10:E84.1 ICD-10:E84.8 ICD-11:CA25 MeSH:D003550 MedDRA:10011762 OMIM:219700 UMLS:C0010674 Autosomal recessive All ages Austria AND has_birth_prevalence_average_value : 28.5714 AND has_birth_prevalence_range : 1-5 / 10 000 Austria AND has_point_prevalence_average_value : 8.39 AND has_point_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 35.0877 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_point_prevalence_average_value : 20.1429 AND has_point_prevalence_range : 1-5 / 10 000 Brazil AND has_annual_incidence_average_value : 13.1995 AND has_annual_incidence_range : 1-5 / 10 000 Bulgaria AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000 Bulgaria AND has_point_prevalence_average_value : 2.26 AND has_point_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.7786 AND has_point_prevalence_range : 1-9 / 1 000 000 Cyprus AND has_birth_prevalence_average_value : 12.6358 AND has_birth_prevalence_range : 1-5 / 10 000 Cyprus AND has_point_prevalence_average_value : 3.35 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 15.29 AND has_birth_prevalence_range : 1-5 / 10 000 Czech Republic AND has_point_prevalence_average_value : 8.7775 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 17.41 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 9.9946 AND has_point_prevalence_range : 1-9 / 100 000 Estonia AND has_birth_prevalence_average_value : 22.2222 AND has_birth_prevalence_range : 1-5 / 10 000 Estonia AND has_point_prevalence_average_value : 6.18 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 19.3912 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 11.1319 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 1.1027 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 21.15 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 12.1416 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 19.5017 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 11.1954 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_birth_prevalence_average_value : 28.5714 AND has_birth_prevalence_range : 1-5 / 10 000 Greece AND has_point_prevalence_average_value : 5.21 AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_range : Unknown Hungary AND has_point_prevalence_average_value : 4.09 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 36.36 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_point_prevalence_average_value : 20.8733 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 17.809 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 10.2236 AND has_point_prevalence_range : 1-5 / 10 000 Latvia AND has_birth_prevalence_range : Unknown Latvia AND has_point_prevalence_average_value : 1.04 AND has_point_prevalence_range : 1-9 / 100 000 Lithuania AND has_birth_prevalence_range : Unknown Lithuania AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 Luxembourg AND has_birth_prevalence_range : Unknown Luxembourg AND has_point_prevalence_average_value : 4.31 AND has_point_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_range : Unknown Malta AND has_point_prevalence_average_value : 5.79 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 16.58 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_point_prevalence_average_value : 9.5181 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 11.5474 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 6.629 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 17.4881 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_point_prevalence_average_value : 10.0394 AND has_point_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 12.549 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_point_prevalence_average_value : 7.204 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_birth_prevalence_average_value : 48.6381 AND has_birth_prevalence_range : 1-5 / 10 000 Romania AND has_point_prevalence_average_value : 1.06 AND has_point_prevalence_range : 1-9 / 100 000 Russian Federation AND has_birth_prevalence_average_value : 9.7119 AND has_birth_prevalence_range : 1-9 / 100 000 Russian Federation AND has_point_prevalence_average_value : 5.5753 AND has_point_prevalence_range : 1-9 / 100 000 Slovakia AND has_birth_prevalence_average_value : 15.38 AND has_birth_prevalence_range : 1-5 / 10 000 Slovakia AND has_point_prevalence_average_value : 8.8292 AND has_point_prevalence_range : 1-9 / 100 000 Slovenia AND has_birth_prevalence_average_value : 33.3333 AND has_birth_prevalence_range : 1-5 / 10 000 Slovenia AND has_point_prevalence_average_value : 3.28 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 16.5048 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_point_prevalence_average_value : 9.4749 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 17.9285 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 10.2922 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 41.9991 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 13.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=586 Cystic fibrosis ORPHA:586 ICD-10:E84.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E84.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E84.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:CA25 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003550 E (Exact mapping: the two concepts are equivalent) MedDRA:10011762 E (Exact mapping: the two concepts are equivalent) OMIM:219700 E (Exact mapping: the two concepts are equivalent) UMLS:C0010674 E (Exact mapping: the two concepts are equivalent) A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years. Orphanet ICD-10:A81.9 ICD-11:6D85.5 UMLS:C5567889 Adult Elderly Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=586130 Sporadic fatal insomnia ORPHA:586130 ICD-10:A81.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D85.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5567889 E (Exact mapping: the two concepts are equivalent) 19p13.3 Ensembl:ENSG00000077463 HGNC:14934 IUPHAR:2712 OMIM:606211 Reactome:Q8N6T7 SwissProt:Q8N6T7 SIRT6 sirtuin 6 3q25.1 KIAA1635 TNRC11L TRALP TRALPUSH Ensembl:ENSG00000144893 HGNC:16050 OMIM:611318 Reactome:Q86YW9 SwissProt:Q86YW9 MED12L mediator complex subunit 12L Xp22.2 NX17 collectrin Ensembl:ENSG00000147003 HGNC:29437 OMIM:300631 SwissProt:Q9HBJ8 CLTRN collectrin, amino acid transport regulator 11q23.3 PTD009 SBDN TRS23 Ensembl:ENSG00000196655 HGNC:19943 OMIM:610971 Reactome:Q9Y296 SwissProt:Q9Y296 TRAPPC4 trafficking protein particle complex subunit 4 12q24.31 Dhr1 KIAA1517 MGC2695 MGC4322 Ensembl:ENSG00000150990 HGNC:17210 OMIM:617362 Reactome:Q8IY37 SwissProt:Q8IY37 DHX37 DEAH-box helicase 37 10q26.13 FLJ22973 Pegasus Ensembl:ENSG00000095574 HGNC:14283 OMIM:606238 SwissProt:Q9H5V7 IKZF5 IKAROS family zinc finger 5 21q21.3 CD322 JAM-2 JAM-B JAMB VE-JAM junctional adhesion molecule B vascular endothelial junction-associated molecule Ensembl:ENSG00000154721 HGNC:14686 OMIM:606870 Reactome:P57087 SwissProt:P57087 JAM2 junctional adhesion molecule 2 11q12.2 DKFZP586B1621 FAD-AMP lyase (cyclizing) NET45 Ensembl:ENSG00000149476 HGNC:24552 OMIM:615844 Reactome:Q3LXA3 SwissProt:Q3LXA3 TKFC triokinase and FMN cyclase 22q13.2 FASN2C MCT MCT1 MT NET62 [acyl-carrier-protein] S-malonyltransferase fabD Ensembl:ENSG00000100294 HGNC:29622 OMIM:614479 Reactome:Q8IVS2 SwissProt:Q8IVS2 MCAT malonyl-CoA-acyl carrier protein transacylase 2q31.1 HSPC133 Ensembl:ENSG00000138382 HGNC:25006 OMIM:618628 SwissProt:Q9NRN9 METTL5 methyltransferase 5, N6-adenosine 17p13.1 Mi-2a Mi2-ALPHA ZFH Ensembl:ENSG00000170004 HGNC:1918 OMIM:602120 Reactome:Q12873 SwissProt:Q12873 CHD3 chromodomain helicase DNA binding protein 3 Multiple keratoacanthoma, Muir-Torre type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lynch syndrome MeSH:D055653 MedDRA:10063042 OMIM:158320 UMLS:C1321489 Muir-Torre syndrome ORPHA:587 MeSH:D055653 E (Exact mapping: the two concepts are equivalent) MedDRA:10063042 E (Exact mapping: the two concepts are equivalent) OMIM:158320 E (Exact mapping: the two concepts are equivalent) UMLS:C1321489 E (Exact mapping: the two concepts are equivalent) 3q13.2 DKFZP434F2021 NET17 Ensembl:ENSG00000163608 HGNC:24496 OMIM:617089 SwissProt:Q6NW34 NEPRO nucleolus and neural progenitor protein 11q13.4 FLJ10631 Ensembl:ENSG00000172890 HGNC:29832 OMIM:608285 Reactome:Q6IA69 SwissProt:Q6IA69 NADSYN1 NAD synthetase 1 4q27 FLJ23191 Ensembl:ENSG00000173376 HGNC:26256 OMIM:616506 SwissProt:Q8TB73 NDNF neuron derived neurotrophic factor 3p21.31 FLJ10496 Ensembl:ENSG00000178149 HGNC:25536 OMIM:618904 Reactome:Q5D0E6 SwissProt:Q5D0E6 DALRD3 DALR anticodon binding domain containing 3 AZFa HGNC:908 AZF1 azoospermia factor 1 5q33.1 CDHF8 CDHR9 HFAT2 MEGF1 cadherin-related family member 9 multiple EGF like domains 1 Ensembl:ENSG00000086570 HGNC:3596 OMIM:604269 SwissProt:Q9NYQ8 FAT2 FAT atypical cadherin 2 3p21.31 DKFZP564F0923 HD-PTP KIAA1471 Ensembl:ENSG00000076201 HGNC:14406 OMIM:606584 Reactome:Q9H3S7 SwissProt:Q9H3S7 PTPN23 protein tyrosine phosphatase non-receptor type 23 MEB syndrome Muscle-eye-brain syndrome Santavuori congenital muscular dystrophy A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe intellectual disability and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system. Orphanet ICD-10:G71.0 ICD-11:8C70.6 OMIM:236670 OMIM:253280 OMIM:253800 OMIM:613150 OMIM:613153 OMIM:613154 OMIM:615181 OMIM:615350 UMLS:C0457133 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=588 Muscle-eye-brain disease ORPHA:588 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:236670 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:253280 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:253800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613153 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613154 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615181 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615350 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0457133 E (Exact mapping: the two concepts are equivalent) Acquired myasthenia Autoimmune myasthenia gravis Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. Orphanet ICD-10:G70.0 ICD-11:8C60 MeSH:D009157 MedDRA:10028417 OMIM:159400 OMIM:254200 OMIM:607085 UMLS:C0026896 Multigenic/multifactorial Not applicable All ages Australia AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 Australia AND has_point_prevalence_average_value : 11.7 AND has_point_prevalence_range : 1-5 / 10 000 Austria AND has_point_prevalence_average_value : 15.7 AND has_point_prevalence_range : 1-5 / 10 000 Canada AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Croatia AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_point_prevalence_average_value : 9.9 AND has_point_prevalence_range : 1-9 / 100 000 Egypt AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Estonia AND has_point_prevalence_average_value : 7.8 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 1.94 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 18.5 AND has_point_prevalence_range : 1-5 / 10 000 Serbia AND has_annual_incidence_average_value : 1.33 AND has_annual_incidence_range : 1-9 / 100 000 Serbia AND has_point_prevalence_average_value : 31.8 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_annual_incidence_average_value : 1.11 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_lifetime_prevalence_average_value : 40.0 AND has_lifetime_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 17.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 0.53 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 7.77 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589 Myasthenia gravis ORPHA:589 ICD-10:G70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009157 E (Exact mapping: the two concepts are equivalent) MedDRA:10028417 E (Exact mapping: the two concepts are equivalent) OMIM:159400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:254200 E (Exact mapping: the two concepts are equivalent) OMIM:607085 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0026896 E (Exact mapping: the two concepts are equivalent) SMD-corneal dystrophy syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. Orphanet ICD-10:Q87.8 OMIM:618961 UMLS:C5394555 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618961 E (Exact mapping: the two concepts are equivalent) UMLS:C5394555 E (Exact mapping: the two concepts are equivalent) Liberfarb syndrome A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Orphanet ICD-10:Q87.8 OMIM:618889 UMLS:C5394404 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618889 E (Exact mapping: the two concepts are equivalent) UMLS:C5394404 E (Exact mapping: the two concepts are equivalent) PADDAS syndrome A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. Orphanet ICD-10:G11.8 UMLS:C4693672 Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589515 PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4693672 E (Exact mapping: the two concepts are equivalent) SCA46 A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:617770 UMLS:C4540404 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589522 Spinocerebellar ataxia type 46 ORPHA:589522 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617770 E (Exact mapping: the two concepts are equivalent) UMLS:C4540404 E (Exact mapping: the two concepts are equivalent) SCA45 A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:617769 UMLS:C4540400 Autosomal dominant Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589527 Spinocerebellar ataxia type 45 ORPHA:589527 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617769 E (Exact mapping: the two concepts are equivalent) UMLS:C4540400 E (Exact mapping: the two concepts are equivalent) MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 ICD-10:C92.7 ICD-11:2A61 ICD-11:XH97B7 UMLS:C5680315 Adolescent Adult Childhood Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) Etiological subtype ORPHA:589534 ICD-10:C92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH97B7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680315 E (Exact mapping: the two concepts are equivalent) Myeloid/lymphoid neoplasms with PCM1-JAK2 ICD-10:D47.1 ICD-11:2A22 UMLS:C5229383 Adolescent Adult Childhood Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement ORPHA:589542 ICD-10:D47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5229383 E (Exact mapping: the two concepts are equivalent) GRIN2B-Related Neurodevelopmental Disorder A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia. Orphanet ICD-10:G93.4 OMIM:613970 OMIM:616139 UMLS:C5681638 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 98.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder ORPHA:589547 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613970 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616139 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681638 E (Exact mapping: the two concepts are equivalent) MPAL with t(v;11q23.3); KMT2A rearranged MPAL with t(v;11q23.3); MLL rearranged ICD-10:C92.6 ICD-11:2A61 UMLS:C5680314 Adolescent Adult Childhood Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589595 Mixed phenotype acute leukemia with t(v;11q23.3) Etiological subtype ORPHA:589595 ICD-10:C92.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680314 E (Exact mapping: the two concepts are equivalent) RHOA-related mosaic ectodermal dysplasia A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. Orphanet ICD-10:Q82.4 OMIM:618727 UMLS:C5680313 No data available Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618727 E (Exact mapping: the two concepts are equivalent) UMLS:C5680313 E (Exact mapping: the two concepts are equivalent) DYT28 KMT2B-related dystonia A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association. Orphanet ICD-10:G24.8 OMIM:617284 UMLS:C4310633 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 160.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589618 Dystonia 28 ORPHA:589618 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617284 E (Exact mapping: the two concepts are equivalent) UMLS:C4310633 E (Exact mapping: the two concepts are equivalent) UMLS:C5681634 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589746 Inherited gynecological cancer-predisposing syndrome Category ORPHA:589746 UMLS:C5681634 E (Exact mapping: the two concepts are equivalent) Congenital-onset Steinert disease Congenital-onset myotonic dystrophy type 1 ICD-10:G71.1 ICD-11:8C71.0 OMIM:160900 UMLS:C5680305 Autosomal dominant Antenatal Neonatal Canada AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.94 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 47.6 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589821 Congenital-onset Steinert myotonic dystrophy Clinical subtype ORPHA:589821 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:160900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680305 E (Exact mapping: the two concepts are equivalent) Childhood-onset Steinert disease Childhood-onset myotonic dystrophy type 1 ICD-10:G71.1 ICD-11:8C71.0 OMIM:160900 UMLS:C5680307 Autosomal dominant Childhood Infancy Italy AND has_point_prevalence_average_value : 1.29 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589824 Childhood-onset Steinert myotonic dystrophy Clinical subtype ORPHA:589824 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:160900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680307 E (Exact mapping: the two concepts are equivalent) Juvenile-onset Steinert disease Juvenile-onset myotonic dystrophy type 1 ICD-10:G71.1 ICD-11:8C71.0 OMIM:160900 UMLS:C5680306 Autosomal dominant Childhood Italy AND has_point_prevalence_average_value : 1.64 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589827 Juvenile-onset Steinert myotonic dystrophy Clinical subtype ORPHA:589827 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:160900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680306 E (Exact mapping: the two concepts are equivalent) Adult-onset Steinert disease Adult-onset myotonic dystrophy type 1 ICD-10:G71.1 ICD-11:8C71.0 OMIM:160900 UMLS:C5680309 Autosomal dominant Adult Italy AND has_point_prevalence_average_value : 12.54 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589830 Adult-onset Steinert myotonic dystrophy Clinical subtype ORPHA:589830 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:160900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680309 E (Exact mapping: the two concepts are equivalent) Late-onset Steinert disease Late-onset myotonic dystrophy type 1 ICD-10:G71.1 ICD-11:8C71.0 OMIM:160900 UMLS:C5680308 Autosomal dominant Elderly Italy AND has_point_prevalence_average_value : 8.14 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589833 Late-onset Steinert myotonic dystrophy Clinical subtype ORPHA:589833 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:160900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680308 E (Exact mapping: the two concepts are equivalent) KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported. Orphanet ICD-10:Q87.8 OMIM:620186 UMLS:C5680310 Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620186 E (Exact mapping: the two concepts are equivalent) UMLS:C5680310 E (Exact mapping: the two concepts are equivalent) Chung-Jansen syndrome DIDOD A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. Orphanet ICD-10:Q87.8 OMIM:617991 UMLS:C4693860 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617991 E (Exact mapping: the two concepts are equivalent) UMLS:C4693860 E (Exact mapping: the two concepts are equivalent) AHDS MCT8 deficiency Monocarboxylate transporter 8 deficiency X-linked intellectual disability-hypotonia syndrome A rare X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. Orphanet ICD-10:G31.8 ICD-11:5A00.0Y MeSH:C537047 MedDRA:10078821 OMIM:300523 UMLS:C0795889 X-linked recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 320.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59 Allan-Herndon-Dudley syndrome ORPHA:59 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537047 E (Exact mapping: the two concepts are equivalent) MedDRA:10078821 E (Exact mapping: the two concepts are equivalent) OMIM:300523 E (Exact mapping: the two concepts are equivalent) UMLS:C0795889 E (Exact mapping: the two concepts are equivalent) CMS Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. Orphanet ICD-10:G70.2 ICD-11:8C61 MeSH:D020294 MedDRA:10083942 OMIM:254190 OMIM:254210 OMIM:254300 OMIM:601462 OMIM:603034 OMIM:605809 OMIM:608930 OMIM:608931 OMIM:610542 OMIM:614198 OMIM:614750 OMIM:615120 OMIM:616040 OMIM:616224 OMIM:616227 OMIM:616228 OMIM:616304 OMIM:616313 OMIM:616314 OMIM:616321 OMIM:616322 OMIM:616323 OMIM:616324 OMIM:616325 OMIM:616326 OMIM:616330 OMIM:616720 OMIM:617143 OMIM:617239 OMIM:619461 UMLS:C0751882 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=590 Congenital myasthenic syndrome ORPHA:590 ICD-10:G70.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020294 E (Exact mapping: the two concepts are equivalent) MedDRA:10083942 E (Exact mapping: the two concepts are equivalent) OMIM:254190 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:254210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:254300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601462 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603034 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605809 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608930 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608931 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610542 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614198 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616040 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616224 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616227 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616228 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616313 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616314 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616321 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616322 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616323 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616324 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616325 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616326 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616330 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616720 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617143 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617239 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619461 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751882 E (Exact mapping: the two concepts are equivalent) Isolated melanocytic schwannoma A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course. Orphanet ICD-10:D36.1 ICD-11:2A02.1Y UMLS:C5680304 Adolescent Adult Childhood Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=590539 Isolated melanotic schwannoma ORPHA:590539 ICD-10:D36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A02.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680304 E (Exact mapping: the two concepts are equivalent) Furunculoid myiasis Furunculous myiasis A parasitic disease characterized by infestation of the skin with larvae of a variety of fly species. Furuncular myiasis specifically involves flies whose eggs are able to breach healthy skin, which concerns three species: Cordylobia anthropophaga (also called the African tumbu fly or Cayor worm for the larvae) and Cordylobia rodhaini (the Lund's fly), and Dermatobia hominis (the human botfly). Orphanet ICD-10:B87.0 ICD-11:1G01.3 MeSH:C538194 UMLS:C2931766 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=591 Furuncular myiasis ORPHA:591 ICD-10:B87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1G01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538194 E (Exact mapping: the two concepts are equivalent) UMLS:C2931766 E (Exact mapping: the two concepts are equivalent) Distal myopathy type 1 MPD1 A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement. Orphanet ICD-10:G71.0 OMIM:160500 UMLS:C4552004 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59135 Laing distal myopathy ORPHA:59135 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:160500 E (Exact mapping: the two concepts are equivalent) UMLS:C4552004 E (Exact mapping: the two concepts are equivalent) Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. Orphanet ICD-10:H35.5 ICD-11:9B61 MeSH:C564992 OMIM:136900 UMLS:C1850938 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59181 Sorsby pseudoinflammatory fundus dystrophy ORPHA:59181 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564992 E (Exact mapping: the two concepts are equivalent) OMIM:136900 E (Exact mapping: the two concepts are equivalent) UMLS:C1850938 E (Exact mapping: the two concepts are equivalent) MMF A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months. Orphanet ICD-10:M60.8 MeSH:C537829 UMLS:C2931639 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592 Macrophagic myofasciitis ORPHA:592 ICD-10:M60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537829 E (Exact mapping: the two concepts are equivalent) UMLS:C2931639 E (Exact mapping: the two concepts are equivalent) GNAO1-related neurodevelopmental disorder GNAO1-related spectrum A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. Orphanet ICD-10:G93.4 OMIM:617493 UMLS:C5680303 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 75.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592564 GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617493 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680303 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. Orphanet ICD-10:Q87.8 OMIM:618164 UMLS:C5681633 Antenatal Neonatal Worldwide AND has_cases/families_value : 55.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618164 E (Exact mapping: the two concepts are equivalent) UMLS:C5681633 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. Orphanet ICD-10:Q87.8 OMIM:618332 OMIM:618333 UMLS:C5681632 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592574 Menke-Hennekam syndrome ORPHA:592574 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618332 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618333 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681632 E (Exact mapping: the two concepts are equivalent) NMOSD with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies ICD-10:G36.0 ICD-11:8A43.0 UMLS:C5680295 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Clinical subtype ORPHA:592850 ICD-10:G36.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A43.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680295 E (Exact mapping: the two concepts are equivalent) NMOSD with anti-MOG antibodies Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies ICD-10:G36.0 ICD-11:8A41.1 UMLS:C5680296 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies Clinical subtype ORPHA:592856 ICD-10:G36.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A41.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680296 E (Exact mapping: the two concepts are equivalent) NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies ICD-10:G36.0 UMLS:C5680297 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Clinical subtype ORPHA:592869 ICD-10:G36.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680297 E (Exact mapping: the two concepts are equivalent) Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies ICD-10:G37.3 UMLS:C5680298 Adolescent Adult Childhood Elderly Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592873 Acute transverse myelitis with anti-MOG antibodies Clinical subtype ORPHA:592873 ICD-10:G37.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680298 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated optic neuritis OBSOLETE: Isolated optic neuritis without anti-MOG antibodies ORPHA:592885 OBSOLETE: Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated optic neuritis OBSOLETE: Isolated optic neuritis with anti-MOG antibodies ORPHA:592888 ADEM with anti-MOG antibodies Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies ICD-10:G04.0 UMLS:C5680301 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592894 Acute disseminated encephalomyelitis with anti-MOG antibodies Clinical subtype ORPHA:592894 ICD-10:G04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680301 E (Exact mapping: the two concepts are equivalent) Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies ICD-10:G04.0 UMLS:C5680302 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=592900 Acute disseminated encephalomyelitis without anti-MOG antibodies Clinical subtype ORPHA:592900 ICD-10:G04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680302 E (Exact mapping: the two concepts are equivalent) Myelinoclastic diffuse sclerosis Schilder's disease is a progressive demyelinating disorder of the central nervous system. Orphanet ICD-10:G37.0 ICD-11:8A40.Y MeSH:D002549 OMIM:272100 UMLS:C0007795 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59298 Schilder disease ORPHA:59298 ICD-10:G37.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D002549 E (Exact mapping: the two concepts are equivalent) OMIM:272100 E (Exact mapping: the two concepts are equivalent) UMLS:C0007795 E (Exact mapping: the two concepts are equivalent) MFM Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. Orphanet ICD-11:8C76 MeSH:C580316 MedDRA:10087101 UMLS:C2678065 Autosomal dominant Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=593 Myofibrillar myopathy Category ORPHA:593 ICD-11:8C76 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C580316 E (Exact mapping: the two concepts are equivalent) MedDRA:10087101 E (Exact mapping: the two concepts are equivalent) UMLS:C2678065 E (Exact mapping: the two concepts are equivalent) IHSC Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome NISCH syndrome Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Orphanet ICD-10:Q80.8 ICD-11:DB96.2Y MeSH:C564365 OMIM:607626 UMLS:C1843355 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59303 Neonatal ichthyosis-sclerosing cholangitis syndrome ORPHA:59303 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB96.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564365 E (Exact mapping: the two concepts are equivalent) OMIM:607626 E (Exact mapping: the two concepts are equivalent) UMLS:C1843355 E (Exact mapping: the two concepts are equivalent) GTN A rare, malignant group of gestational trophoblastic diseases always following pregnancy, most often molar pregnancy (hydatidiform mole). Four histological forms are described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT). Orphanet ICD-11:2C75.0 MeSH:D031901 MedDRA:10061988 UMLS:C1135868 Not applicable Adult Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59305 Gestational trophoblastic neoplasm Clinical group ORPHA:59305 ICD-11:2C75.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D031901 E (Exact mapping: the two concepts are equivalent) MedDRA:10061988 E (Exact mapping: the two concepts are equivalent) UMLS:C1135868 E (Exact mapping: the two concepts are equivalent) MLS X-linked McLeod syndrome McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. Orphanet ICD-10:G10 ICD-11:3A10.Y MedDRA:10081507 OMIM:300842 UMLS:C4510408 X-linked recessive Adult Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome ORPHA:59306 ICD-10:G10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081507 E (Exact mapping: the two concepts are equivalent) OMIM:300842 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4510408 E (Exact mapping: the two concepts are equivalent) A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or with other malformations of the brain. Orphanet ICD-10:Q04.3 ICD-11:LA06.Y UMLS:C1866130 Not applicable Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=59315 Rhombencephalosynapsis ORPHA:59315 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA06.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1866130 E (Exact mapping: the two concepts are equivalent) 17p13.1 PSD-95 PSD95 SAP-90 SAP90 Ensembl:ENSG00000132535 HGNC:2903 OMIM:602887 Reactome:P78352 SwissProt:P78352 DLG4 discs large MAGUK scaffold protein 4 Xq24 ACG FLJ32122 FLJ43653 ZIZ2 zizimin2 Ensembl:ENSG00000147251 HGNC:23483 OMIM:300681 Reactome:Q5JSL3 SwissProt:Q5JSL3 DOCK11 dedicator of cytokinesis 11 19p13.11 KIAA0290 Ensembl:ENSG00000130475 HGNC:29002 OMIM:613437 Reactome:O14526 SwissProt:O14526 FCHO1 FCH and mu domain containing endocytic adaptor 1 1q21.3 CD126 IL-1Ra IL-6R IL6RA gp80 interleukin 6 receptor subunit alpha membrane glycoprotein 80 Ensembl:ENSG00000160712 HGNC:6019 IUPHAR:1708 OMIM:147880 Reactome:P08887 SwissProt:P08887 IL6R interleukin 6 receptor 12q13.13-q13.2 Ensembl:ENSG00000123338 HGNC:4862 OMIM:141180 Reactome:P55160 SwissProt:P55160 NCKAP1L NCK associated protein 1 like Xq26.1 753P9 HACS2 SH3D6C SLY Ensembl:ENSG00000122122 HGNC:15975 OMIM:300441 Reactome:O75995 SwissProt:O75995 SASH3 SAM and SH3 domain containing 3 6p21.32 D6S2244E H2-KE4 KE4 RING5 ZIP7 ZRT/IRT-like protein 7 zinc transporter 7 Ensembl:ENSG00000112473 HGNC:4927 IUPHAR:1186 OMIM:601416 Reactome:Q92504 SwissProt:Q92504 SLC39A7 solute carrier family 39 member 7 11p11.2 31 kDa transforming protein OF PU.1 SFPI1 SPI-1 SPI-A hematopoietic transcription factor PU.1 Ensembl:ENSG00000066336 HGNC:11241 OMIM:165170 Reactome:P17947 SwissProt:P17947 SPI1 Spi-1 proto-oncogene 14q11.2 CDC68 FACT FACTP140 FLJ10857 FLJ14010 SPT16/CDC68 facilitates chromatin remodeling 140 kDa subunit Ensembl:ENSG00000092201 HGNC:11465 OMIM:605012 Reactome:Q9Y5B9 SwissProt:Q9Y5B9 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit CNM A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance. Orphanet ICD-11:8C72.01 UMLS:C0175709 Autosomal dominant Autosomal recessive X-linked recessive Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595 Centronuclear myopathy Clinical group ORPHA:595 ICD-11:8C72.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0175709 E (Exact mapping: the two concepts are equivalent) LQT8 type 1 TS1 ICD-10:I49.8 ICD-11:BC65.0 UMLS:C5574939 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595098 Timothy syndrome type 1 Clinical subtype ORPHA:595098 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5574939 E (Exact mapping: the two concepts are equivalent) LQT8 type 2 TS2 ICD-10:I49.8 ICD-11:BC65.0 UMLS:C4304347 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595105 Timothy syndrome type 2 Clinical subtype ORPHA:595105 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304347 E (Exact mapping: the two concepts are equivalent) ATS Atypical LQT8 ICD-10:I49.8 ICD-11:BC65.0 UMLS:C5575746 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595109 Atypical Timothy syndrome Clinical subtype ORPHA:595109 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5575746 E (Exact mapping: the two concepts are equivalent) PEComa Perivascular epithelioid tumour A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant. Orphanet ICD-10:D21.9 MeSH:D054973 MedDRA:10085067 UMLS:C1300127 Adolescent Adult Childhood Elderly Worldwide AND has_annual_incidence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595133 Perivascular epithelioid cell neoplasm ORPHA:595133 ICD-10:D21.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D054973 E (Exact mapping: the two concepts are equivalent) MedDRA:10085067 E (Exact mapping: the two concepts are equivalent) UMLS:C1300127 E (Exact mapping: the two concepts are equivalent) FD/MAS spectrum FD/MAS syndrome Fibrous dysplasia/McCune-Albright spectrum UMLS:C5680283 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595216 Fibrous dysplasia/McCune-Albright syndrome Clinical group ORPHA:595216 UMLS:C5680283 E (Exact mapping: the two concepts are equivalent) AHC Congenital adrenal hypoplasia Primary adrenal hypoplasia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595337 Adrenal hypoplasia congenita Clinical group ORPHA:595337 EBS without extracutaneous involvement UMLS:C5680282 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595346 Epidermolysis bullosa simplex without extracutaneous involvement Category ORPHA:595346 UMLS:C5680282 E (Exact mapping: the two concepts are equivalent) EBS with extracutaneous involvement UMLS:C5680281 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595351 Epidermolysis bullosa simplex with extracutaneous involvement Category ORPHA:595351 UMLS:C5680281 E (Exact mapping: the two concepts are equivalent) Localized DEB A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). Orphanet ICD-10:Q81.2 UMLS:C0474885 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=595356 Localized dystrophic epidermolysis bullosa ORPHA:595356 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0474885 E (Exact mapping: the two concepts are equivalent) X-linked myotubular myopathy XLCNM XLMTM A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure. Orphanet ICD-10:G71.2 ICD-11:8C72.01 OMIM:310400 UMLS:C0410203 X-linked recessive Antenatal Neonatal Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596 X-linked centronuclear myopathy ORPHA:596 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C72.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:310400 E (Exact mapping: the two concepts are equivalent) UMLS:C0410203 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD24.GY OMIM:207410 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis Clinical subtype ORPHA:596008 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:207410 E (Exact mapping: the two concepts are equivalent) UMLS:C5681621 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596426 Syndrome of reduced sensitivity to thyroid hormone Clinical group ORPHA:596426 UMLS:C5681621 E (Exact mapping: the two concepts are equivalent) A rare systemic autoimmune disease characterized by mass-forming lesions with a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells and storiform fibrosis, often displaying obliterative phlebitis, and usually accompanied by elevated serum IgG4. Almost any organ may be affected, with pancreas, salivary gland, and orbit being the most common. Multi-organ involvement (synchronously or metachronously) is typical. Many patients show lymphadenopathy, most often involving the mediastinal, intra-abdominal, axillary, and cervical nodes. Symptoms are usually attributable to the mass effect of the lesions. Orphanet ICD-10:M35.8 ICD-11:4A43.0 UMLS:C4087124 Not applicable Adolescent Adult Childhood Elderly Denmark AND has_annual_incidence_average_value : 0.6885 AND has_annual_incidence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 0.576 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 1.026 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596448 IgG4-related systemic disease ORPHA:596448 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4087124 E (Exact mapping: the two concepts are equivalent) A rare autoinflammatory syndrome characterized by adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis, and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11. Orphanet ICD-10:M35.8 MeSH:C000721467 MedDRA:10085860 OMIM:301054 UMLS:C5435753 Adult Elderly Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596753 VEXAS syndrome ORPHA:596753 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000721467 E (Exact mapping: the two concepts are equivalent) MedDRA:10085860 E (Exact mapping: the two concepts are equivalent) OMIM:301054 E (Exact mapping: the two concepts are equivalent) UMLS:C5435753 E (Exact mapping: the two concepts are equivalent) CID due to RELA haploinsufficiency Combined immunodeficiency due to RELA proto-oncogene, NF-kB subunit haploinsufficiency RAID RELA-associated inflammatory disease A rare non-severe combined immunodeficiency characterized by TNF-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. Orphanet ICD-10:D81.8 OMIM:618287 UMLS:C5680288 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596759 Combined immunodeficiency due to RELA haploinsufficiency ORPHA:596759 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618287 E (Exact mapping: the two concepts are equivalent) UMLS:C5680288 E (Exact mapping: the two concepts are equivalent) PSVD ICD-10:K76.8 UMLS:C5680289 Adult Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596937 Portosinusoidal vascular disease ORPHA:596937 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680289 E (Exact mapping: the two concepts are equivalent) Incomplete septal fibrosis A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma. Orphanet ICD-10:K74.6 UMLS:C0544815 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=596941 Incomplete septal cirrhosis Histopathological subtype ORPHA:596941 ICD-10:K74.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0544815 E (Exact mapping: the two concepts are equivalent) 12q24.31 KIAA1076 KMT2G Set1B Ensembl:ENSG00000139718 HGNC:29187 IUPHAR:2701 OMIM:611055 Reactome:Q9UPS6 SwissProt:Q9UPS6 SETD1B SET domain containing 1B, histone lysine methyltransferase 4p16.3 BARS brefeldin A-ribosylated substrate Ensembl:ENSG00000159692 HGNC:2494 OMIM:602618 Reactome:Q13363 SwissProt:Q13363 CTBP1 C-terminal binding protein 1 Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Orphanet ICD-10:G71.2 ICD-11:8C72.02 MeSH:D020512 MedDRA:10057620 OMIM:117000 UMLS:C0751951 Autosomal dominant Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597 Central core disease ORPHA:597 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C72.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020512 E (Exact mapping: the two concepts are equivalent) MedDRA:10057620 E (Exact mapping: the two concepts are equivalent) OMIM:117000 E (Exact mapping: the two concepts are equivalent) UMLS:C0751951 E (Exact mapping: the two concepts are equivalent) 2q14.1 FLJ10816 FLJ21921 RPA135 RPA2 Rpo1-2 Ensembl:ENSG00000125630 HGNC:20454 OMIM:602000 Reactome:Q9H9Y6 SwissProt:Q9H9Y6 POLR1B RNA polymerase I subunit B 11p13 RNG105 caprin-1 cytoplasmic activation/proliferation-associated protein-1 Ensembl:ENSG00000135387 HGNC:6743 OMIM:601178 Reactome:Q14444 SwissProt:Q14444 CAPRIN1 cell cycle associated protein 1 5q31.2 RSPH23 nm23-H5 non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) radial spoke 23 homolog (Chlamydomonas) Ensembl:ENSG00000112981 HGNC:7853 OMIM:603575 Reactome:P56597 SwissProt:P56597 NME5 NME/NM23 family member 5 16q24.3 BBC1 D16S444E L13 breast basic conserved 1 eL13 Ensembl:ENSG00000167526 HGNC:10303 OMIM:113703 Reactome:P26373 SwissProt:P26373 RPL13 ribosomal protein L13 TRIM22-related IBD A rare genetic gastroenterological disease characterized by infantile or childhood onset of severe gastrointestinal inflammation. Patients present with a variable phenotype including fever, diarrhea, failure to thrive, oral ulcers, fistulating perianal disease, strictures, granulomatous colitis, and recurrent bacterial and viral infections. Orphanet ICD-10:K52.8 UMLS:C5680271 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597201 TRIM22-related inflammatory bowel disease ORPHA:597201 ICD-10:K52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680271 E (Exact mapping: the two concepts are equivalent) A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal. Orphanet ICD-10:G93.8 OMIM:618088 UMLS:C5681583 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome ORPHA:597623 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618088 E (Exact mapping: the two concepts are equivalent) UMLS:C5681583 E (Exact mapping: the two concepts are equivalent) OCA8 A type of oculocutaneous albinism characterized by mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination, and hypopigmentation of the retina. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:619165 UMLS:C5436929 Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597733 Oculocutaneous albinism type 8 ORPHA:597733 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619165 E (Exact mapping: the two concepts are equivalent) UMLS:C5436929 E (Exact mapping: the two concepts are equivalent) SETD2-related overgrowth syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or naevi have also been reported. Orphanet ICD-10:Q87.3 ICD-11:LD2C OMIM:616831 UMLS:C4085873 Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597738 Luscan-Lumish syndrome ORPHA:597738 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616831 E (Exact mapping: the two concepts are equivalent) UMLS:C4085873 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients. Orphanet ICD-10:Q87.8 OMIM:620157 UMLS:C5681587 Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620157 E (Exact mapping: the two concepts are equivalent) UMLS:C5681587 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations. Orphanet ICD-10:Q87.8 UMLS:C5681588 Antenatal Neonatal Worldwide AND has_cases/families_value : 122.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681588 E (Exact mapping: the two concepts are equivalent) KAT6B-related disorder UMLS:C5680266 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597749 KAT6B-related multiple congenital anomalies syndrome Clinical group ORPHA:597749 UMLS:C5680266 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. Orphanet ICD-10:E88.8 OMIM:618367 UMLS:C5193057 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618367 E (Exact mapping: the two concepts are equivalent) UMLS:C5193057 E (Exact mapping: the two concepts are equivalent) A rare genetic gastroenterological disease characterized by severe, refractory intestinal inflammation with mucosal erosions and ulcerations potentially involving the small and large intestine. Epithelioid granulomas are typically absent. Patients present with severe diarrhea, abdominal pain, vomiting, rectal bleeding, and weight loss. Orphanet ICD-10:K52.8 ICD-11:DD7Y UMLS:C5681586 Autosomal recessive Adolescent Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597887 ALPI-related inflammatory bowel disease ORPHA:597887 ICD-10:K52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681586 E (Exact mapping: the two concepts are equivalent) Euthyroid dystransthyretinemic hyperthyroxinemia A rare genetic endocrine disease characterized by increased affinity of a mutated transthyretin for T4. Total and free T4 may be normal or elevated, but affected individuals are clinically euthyroid. Orphanet ICD-10:E07.8 OMIM:145680 UMLS:C5680265 Adult Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=597939 Euthyroid dysprealbuminemic hyperthyroxinemia ORPHA:597939 ICD-10:E07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:145680 E (Exact mapping: the two concepts are equivalent) UMLS:C5680265 E (Exact mapping: the two concepts are equivalent) MmD Multiminicore disease A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Orphanet ICD-10:G71.2 ICD-11:8C72.0Y OMIM:117000 OMIM:255320 OMIM:602771 UMLS:C0270962 Autosomal dominant Autosomal recessive Antenatal Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=598 Multiminicore myopathy ORPHA:598 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:117000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:255320 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602771 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0270962 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.8 UMLS:C5681589 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=598164 FOXG1 syndrome due to intragenic alteration Clinical subtype ORPHA:598164 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681589 E (Exact mapping: the two concepts are equivalent) Transitional cell carcinoma of the pelvis and ureter Transitional cell carcinoma of the upper urinary tract UTUC A rare urinary tract tumor characterized by a malignant neoplasm arising from urothelial cells of the pyelocaliceal cavities and ureter. The tumor may be multifocal and bilateral in some cases and is more common in males than in females. Cigarette smoking and occupational exposure are major risk factors. Patients most commonly present with visible or non-visible hematuria and/or flank pain due to obstruction of the flow of urine by tumor tissue, or (less often) to local tumor growth. Systemic symptoms such as anorexia, weight loss, malaise, fatigue, fever, night sweats, or cough can be associated with advanced stages. Orphanet ICD-10:C65 ICD-10:C66 UMLS:C0220648 No data available Worldwide AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=598216 Upper tract urothelial carcinoma ORPHA:598216 ICD-10:C65 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C66 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0220648 E (Exact mapping: the two concepts are equivalent) MIS-C/A A rare systemic disease characterized by a life-threatening hyperinflammatory state several weeks after infection with SARS-CoV-2, predominantly occurring in children. The primary infection is typically mild or asymptomatic, and patients are generally previously healthy individuals. Typical presenting signs and symptoms are persistent fever, gastrointestinal symptoms, mucocutaneous inflammation, lymphopenia, and high levels of circulating inflammatory markers. Some patients develop severe disease with cardiac involvement, hypotension, and shock. Presentation is similar in adults, although the severity of cardiac dysfunction, incidence of thrombosis, and mortality may be higher. Orphanet ICD-10:U10.9 ICD-11:RA03 UMLS:C5680268 Childhood Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=598363 Multisystem inflammatory syndrome in children and adults ORPHA:598363 ICD-10:U10.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:RA03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680268 E (Exact mapping: the two concepts are equivalent) FHEIG syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia. Orphanet ICD-10:Q87.8 OMIM:618381 UMLS:C5193066 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618381 E (Exact mapping: the two concepts are equivalent) UMLS:C5193066 E (Exact mapping: the two concepts are equivalent) Distal muscular dystrophy Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. Orphanet ICD-11:8C75 MeSH:D049310 UMLS:C0751336 Autosomal dominant Autosomal recessive All ages United Kingdom AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599 Distal myopathy Category ORPHA:599 ICD-11:8C75 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D049310 E (Exact mapping: the two concepts are equivalent) UMLS:C0751336 E (Exact mapping: the two concepts are equivalent) 3q13.33 MGC23920 Ensembl:ENSG00000144840 HGNC:18072 OMIM:618542 SwissProt:Q5HYI8 RABL3 RAB, member of RAS oncogene family like 3 Snijders Blok-Campeau syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia. Orphanet ICD-10:Q87.0 OMIM:618205 UMLS:C4748701 Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome ORPHA:599082 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618205 E (Exact mapping: the two concepts are equivalent) UMLS:C4748701 E (Exact mapping: the two concepts are equivalent) 5q31.1 2310047H23Rik FLJ22625 Ensembl:ENSG00000113621 HGNC:20652 OMIM:617778 SwissProt:Q96J42 TXNDC15 thioredoxin domain containing 15 15q25.1 BOCA KIAA0081 Ensembl:ENSG00000117899 HGNC:13520 OMIM:607783 SwissProt:Q14696 MESD mesoderm development LRP chaperone 5q31.1 4-PH alpha 2 C-P4Halpha(II) collagen prolyl 4-hydroxylase alpha(II) lncRNA promotes epithelial-mesenchymal transition lncRNA-PE Ensembl:ENSG00000072682 HGNC:8547 OMIM:600608 SwissProt:O15460 P4HA2 prolyl 4-hydroxylase subunit alpha 2 7q11.23 FK506 binding protein 6 (36kD) FKBP36 PPIase immunophilin FKBP36 peptidylprolyl cis-trans isomerase rotamase Ensembl:ENSG00000077800 HGNC:3722 OMIM:604839 SwissProt:O75344 FKBP6 FKBP prolyl isomerase family member 6 (inactive) 7q11.23 MGC35352 Ensembl:ENSG00000176428 HGNC:18287 OMIM:610039 SwissProt:Q86XT2 VPS37D VPS37D subunit of ESCRT-I 7q11.23 Ensembl:ENSG00000176410 HGNC:16410 OMIM:618202 SwissProt:Q96LL9 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 7q11.23 KIAA0038 WSCR1 Ensembl:ENSG00000106682 HGNC:12741 OMIM:603431 SwissProt:Q15056 EIF4H eukaryotic translation initiation factor 4H 7q11.23 MERM1 MGC19709 MGC2022 MGC5140 PP3381 WBMT metastasis-related methyltransferase 1 Ensembl:ENSG00000071462 HGNC:16405 OMIM:615733 SwissProt:O43709 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor 7q11.23 Ensembl:ENSG00000165171 HGNC:19068 OMIM:612546 SwissProt:Q8N6F8 METTL27 methyltransferase like 27 7q11.23 MGC26719 Ensembl:ENSG00000175877 HGNC:23018 OMIM:612547 SwissProt:Q6UE05 TMEM270 transmembrane protein 270 7q11.23 FLJ37938 GTF2IRD2A transcription factor GTF2IRD2 Ensembl:ENSG00000196275 HGNC:30775 OMIM:608899 SwissProt:Q86UP8 GTF2IRD2 GTF2I repeat domain containing 2 A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis. Orphanet ICD-10:G93.8 OMIM:612164 UMLS:C5681600 Neonatal Denmark AND has_point_prevalence_average_value : 1.0885 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 282.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599373 STXBP1-related encephalopathy ORPHA:599373 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:612164 E (Exact mapping: the two concepts are equivalent) UMLS:C5681600 E (Exact mapping: the two concepts are equivalent) HEMS A rare genetic neurological disorder characterized by hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired. Orphanet ICD-10:G37.8 UMLS:C5680278 Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599376 Hypomyelination of early myelinating structures ORPHA:599376 ICD-10:G37.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680278 E (Exact mapping: the two concepts are equivalent) ICD-10:T78.3 ICD-11:4A00.14 UMLS:C5681601 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant Clinical subtype ORPHA:599418 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681601 E (Exact mapping: the two concepts are equivalent) AHA Acquired F8 deficiency Acquired factor VIII deficiency ICD-10:D68.4 ICD-11:3B22 MeSH:C536392 MedDRA:10082745 UMLS:C0272325 Not applicable Adolescent Adult Childhood Elderly Australia AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_range : Unknown Europe AND has_annual_incidence_average_value : 0.1505 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown Germany AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_range : Unknown Japan AND has_annual_incidence_average_value : 0.097 AND has_annual_incidence_range : <1 / 1 000 000 Japan AND has_point_prevalence_range : Unknown Spain AND has_annual_incidence_average_value : 0.0829 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.3063 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.45 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_point_prevalence_range : Unknown United Kingdom AND has_annual_incidence_average_value : 0.141 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599480 Acquired hemophilia A ORPHA:599480 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536392 E (Exact mapping: the two concepts are equivalent) MedDRA:10082745 E (Exact mapping: the two concepts are equivalent) UMLS:C0272325 E (Exact mapping: the two concepts are equivalent) AHB Acquired F9 deficiency Acquired factor IX deficiency ICD-10:D68.4 ICD-11:3B22 MedDRA:10082747 UMLS:C0398609 Not applicable No data available Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599485 Acquired hemophilia B ORPHA:599485 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10082747 E (Exact mapping: the two concepts are equivalent) UMLS:C0398609 E (Exact mapping: the two concepts are equivalent) ICD-10:D68.4 ICD-11:3B2Y MedDRA:10086006 UMLS:C4329256 Adult Elderly Australia AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000 Singapore AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599490 Acquired factor V deficiency ORPHA:599490 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10086006 E (Exact mapping: the two concepts are equivalent) UMLS:C4329256 E (Exact mapping: the two concepts are equivalent) ICD-10:D68.4 ICD-11:3B2Y UMLS:C4331989 All ages Worldwide AND has_cases/families_value : 83.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599495 Acquired factor VII deficiency ORPHA:599495 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4331989 E (Exact mapping: the two concepts are equivalent) aFX ICD-10:D68.4 ICD-11:3B2Y UMLS:C0272328 All ages Worldwide AND has_cases/families_value : 77.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599501 Acquired factor X deficiency ORPHA:599501 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0272328 E (Exact mapping: the two concepts are equivalent) aFXI ICD-10:D68.4 ICD-11:3B2Y MedDRA:10082746 UMLS:C4329257 Adolescent Adult Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599507 Acquired factor XI deficiency ORPHA:599507 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10082746 E (Exact mapping: the two concepts are equivalent) UMLS:C4329257 E (Exact mapping: the two concepts are equivalent) aFXIII ICD-10:D68.4 ICD-11:3B22 UMLS:C0238120 Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 95.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599513 Acquired factor XIII deficiency ORPHA:599513 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0238120 E (Exact mapping: the two concepts are equivalent) FV short isoforms-related bleeding disorder ICD-10:D68.4 ICD-11:3B14.Z OMIM:605913 UMLS:C5680279 Autosomal dominant No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599519 Factor V short isoforms-related bleeding disorder ORPHA:599519 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:605913 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680279 E (Exact mapping: the two concepts are equivalent) FV Amsterdam bleeding disorder ICD-10:D68.4 ICD-11:3B14.Z UMLS:C5681605 Autosomal dominant No data available Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=599579 Factor V Amsterdam bleeding disorder Etiological subtype ORPHA:599579 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681605 E (Exact mapping: the two concepts are equivalent) 14q32.2 CPR4 Ensembl:ENSG00000090061 HGNC:1596 OMIM:603544 SwissProt:O75909 CCNK cyclin K 1p35.2 KIAA0099 PUMH1 Ensembl:ENSG00000134644 HGNC:14957 OMIM:607204 SwissProt:Q14671 PUM1 pumilio RNA binding family member 1 1p36.22-p36.21 BLTP5D FLJ10619 KIAA0453 bridge-like lipid transfer protein family member 5D Ensembl:ENSG00000048707 HGNC:23595 OMIM:608877 SwissProt:Q5THJ4 VPS13D vacuolar protein sorting 13 homolog D 5q31.2 KIAA1082 NET22 Ensembl:ENSG00000120733 HGNC:1337 IUPHAR:2674 OMIM:609373 SwissProt:Q7LBC6 KDM3B lysine demethylase 3B 6q14.3 GRY-RBP HNRNPQ HNRPQ1 NSAP1 dJ3J17.2 heterogeneous nuclear ribonucleoprotein Q hnRNP-Q Ensembl:ENSG00000135316 HGNC:16918 OMIM:616686 SwissProt:O60506 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein 7q31.1 Bravo KIAA0343 NgCAM-related cell adhesion molecule Ensembl:ENSG00000091129 HGNC:7994 OMIM:601581 SwissProt:Q92823 NRCAM neuronal cell adhesion molecule 1q32.1 anion transporter/exchanger-9 Ensembl:ENSG00000174502 HGNC:14469 IUPHAR:1103 OMIM:608481 SwissProt:Q7LBE3 SLC26A9 solute carrier family 26 member 9 17q22 KIAA0612 PRAX-1 RIM-BP1 RIMBP1 Ensembl:ENSG00000005379 HGNC:16831 OMIM:610764 SwissProt:O95153 TSPOAP1 TSPO associated protein 1 3-methylcrotonylglycinuria MCC deficiency MCCD A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C535308 OMIM:210200 OMIM:210210 UMLS:C4551505 Autosomal recessive All ages Europe AND has_birth_prevalence_average_value : 2.65 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 1.36 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=6 3-methylcrotonyl-CoA carboxylase deficiency ORPHA:6 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535308 E (Exact mapping: the two concepts are equivalent) OMIM:210200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:210210 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551505 E (Exact mapping: the two concepts are equivalent) Alpha-1-proteinase inhibitor deficiency Alpha1-antitrypsin deficiency A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis. Orphanet ICD-10:E88.0 ICD-11:5C5A MeSH:D019896 MedDRA:10001806 OMIM:613490 UMLS:C0221757 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 Ireland AND has_point_prevalence_average_value : 47.5 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 33.0 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 63.5 AND has_birth_prevalence_range : 6-9 / 10 000 United States AND has_birth_prevalence_average_value : 17.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60 Alpha-1-antitrypsin deficiency ORPHA:60 ICD-10:E88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C5A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D019896 E (Exact mapping: the two concepts are equivalent) MedDRA:10001806 E (Exact mapping: the two concepts are equivalent) OMIM:613490 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0221757 E (Exact mapping: the two concepts are equivalent) Distal myopathy with vocal cord weakness MATR3-related distal myopathy VCPDM Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings. Orphanet ICD-10:G71.0 ICD-11:8C75 MeSH:C565262 OMIM:606070 UMLS:C1853723 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600 Vocal cord and pharyngeal distal myopathy ORPHA:600 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565262 E (Exact mapping: the two concepts are equivalent) OMIM:606070 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1853723 E (Exact mapping: the two concepts are equivalent) 17q25.3 CTP:phosphoethanolamine cytidylyltransferase ET ethanolamine-phosphate cytidylyltransferase: phosphorylethanolamine transferase Ensembl:ENSG00000185813 HGNC:8756 OMIM:602679 SwissProt:Q99447 PCYT2 phosphate cytidylyltransferase 2, ethanolamine 9p13.3 Ensembl:ENSG00000165006 HGNC:12461 OMIM:609787 SwissProt:Q9NZ09 UBAP1 ubiquitin associated protein 1 16p13.3 JIP3 JSAP1 KIAA1066 homolog of Drosophila Sunday driver 2 syd Ensembl:ENSG00000138834 HGNC:6884 OMIM:605431 SwissProt:Q9UPT6 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 1p36.33 FLJ34599 Ensembl:ENSG00000215915 HGNC:32151 OMIM:617227 SwissProt:Q5T2N8 ATAD3C ATPase family AAA domain containing 3C 22q12.2 PSDC dJ858B16.2 Ensembl:ENSG00000241878 HGNC:8999 IUPHAR:1277 OMIM:612770 SwissProt:Q9UG56 PISD phosphatidylserine decarboxylase 21q22.3 EHOC-1 TRAPP 130 kDa subunit TRS130 trafficking protein particle complex subunit 130 Ensembl:ENSG00000160218 HGNC:11868 OMIM:602103 SwissProt:P48553 TRAPPC10 trafficking protein particle complex subunit 10 Silver staining A rare dermatosis, which can be either localized or generalized, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). Orphanet ICD-10:T56.8 ICD-11:ED6Y MeSH:D001129 MedDRA:10003094 UMLS:C0003782 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60014 Argyria ORPHA:60014 ICD-10:T56.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:ED6Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D001129 E (Exact mapping: the two concepts are equivalent) MedDRA:10003094 E (Exact mapping: the two concepts are equivalent) UMLS:C0003782 E (Exact mapping: the two concepts are equivalent) Xp11.22 A-kinase anchor protein 82 kDa AKAP82 CT99 Fsc1 HI cancer/testis antigen 99 hAKAP82 p82 protein kinase A anchoring protein 4 testis-specific gene HI Ensembl:ENSG00000147081 HGNC:374 OMIM:300185 SwissProt:Q5JQC9 AKAP4 A-kinase anchoring protein 4 Catlin marks Fenestrae parietales symmetricae Foramina parietalia permagna Hereditary cranium bifidum Symmetric parietal foramina Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. Orphanet ICD-10:Q75.8 OMIM:168500 OMIM:609566 OMIM:609597 UMLS:C1868598 Autosomal dominant Antenatal Neonatal Europe AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60015 Enlarged parietal foramina ORPHA:60015 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:168500 E (Exact mapping: the two concepts are equivalent) OMIM:609566 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609597 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1868598 E (Exact mapping: the two concepts are equivalent) 15q15.1 MGC20481 Ensembl:ENSG00000128891 HGNC:28295 OMIM:618941 SwissProt:Q9BV29 CCDC32 coiled-coil domain containing 32 16p12.3 MGC16824 Ensembl:ENSG00000103544 HGNC:24641 OMIM:618981 SwissProt:Q7Z3J2 VPS35L VPS35 endosomal protein sorting factor like FV Atlanta bleeding disorder ICD-10:D68.4 ICD-11:3B14.Z UMLS:C5681543 Autosomal dominant No data available Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600194 Factor V Atlanta bleeding disorder Etiological subtype ORPHA:600194 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681543 E (Exact mapping: the two concepts are equivalent) Xp21.1 FLJ36601 MGC34831 RP13-11B7.1 Ensembl:ENSG00000165164 HGNC:26708 OMIM:301057 SwissProt:Q6ZTR5 CFAP47 cilia and flagella associated protein 47 2q33.3 Ensembl:ENSG00000114942 HGNC:3208 OMIM:600655 SwissProt:P24534 EEF1B2 eukaryotic translation elongation factor 1 beta 2 A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices. Orphanet ICD-10:J84.0 ICD-11:CB06 MeSH:C562405 MedDRA:10037315 OMIM:265100 UMLS:C0155912 Autosomal recessive Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60025 Pulmonary alveolar microlithiasis ORPHA:60025 ICD-10:J84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:CB06 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562405 E (Exact mapping: the two concepts are equivalent) MedDRA:10037315 E (Exact mapping: the two concepts are equivalent) OMIM:265100 E (Exact mapping: the two concepts are equivalent) UMLS:C0155912 E (Exact mapping: the two concepts are equivalent) Pulmonary pseudolymphoma Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. Orphanet ICD-10:J98.4 MedDRA:10077412 OMIM:178610 UMLS:C1334969 Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60026 Pulmonary nodular lymphoid hyperplasia ORPHA:60026 ICD-10:J98.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10077412 E (Exact mapping: the two concepts are equivalent) OMIM:178610 E (Exact mapping: the two concepts are equivalent) UMLS:C1334969 E (Exact mapping: the two concepts are equivalent) 4q12 Gsh2 Ensembl:ENSG00000180613 HGNC:24959 OMIM:616253 SwissProt:Q9BZM3 GSX2 GS homeobox 2 6p22.2 H4/g dJ221C16.1 Ensembl:ENSG00000197061 HGNC:4787 OMIM:602827 SwissProt:P62805 H4C3 H4 clustered histone 3 1p36.12 hnRNP-R Ensembl:ENSG00000125944 HGNC:5047 OMIM:607201 SwissProt:O43390 HNRNPR heterogeneous nuclear ribonucleoprotein R Aortic aneurysm syndrome due to TGF-beta receptors anomalies Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. Orphanet ICD-10:Q87.4 ICD-11:BD50.Z MeSH:D055947 MedDRA:10081284 OMIM:609192 OMIM:610168 OMIM:613795 OMIM:614816 OMIM:615582 OMIM:619656 UMLS:C2697932 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 52.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60030 Loeys-Dietz syndrome ORPHA:60030 ICD-10:Q87.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD50.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D055947 E (Exact mapping: the two concepts are equivalent) MedDRA:10081284 E (Exact mapping: the two concepts are equivalent) OMIM:609192 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610168 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613795 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614816 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615582 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619656 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2697932 E (Exact mapping: the two concepts are equivalent) 16p11.2 FLJ14040 MOF ZC2HC8 hMOF Ensembl:ENSG00000103510 HGNC:17933 IUPHAR:2668 OMIM:609912 SwissProt:Q9H7Z6 KAT8 lysine acetyltransferase 8 A rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation vary with the age of patients and the extent of lesions and include dysphonia, chronic cough and recurrent respiratory infections. Orphanet ICD-10:J98.8 ICD-11:2F00.1 MeSH:C535297 MedDRA:10059314 UMLS:C1168198 Not applicable Adolescent Adult Childhood Infancy Denmark AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.42 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 2.34 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60032 Recurrent respiratory papillomatosis ORPHA:60032 ICD-10:J98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F00.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535297 E (Exact mapping: the two concepts are equivalent) MedDRA:10059314 E (Exact mapping: the two concepts are equivalent) UMLS:C1168198 E (Exact mapping: the two concepts are equivalent) 9p24.1 bA207C16.1 Ensembl:ENSG00000107036 HGNC:17686 OMIM:610354 SwissProt:Q4ADV7 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 Idiopathic bronchiectasis&#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies). Orphanet ICD-10:J47 ICD-11:CA24 OMIM:211400 OMIM:613021 OMIM:613071 UMLS:C0339985 Not applicable All ages Finland AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 29.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60033 Idiopathic bronchiectasis ORPHA:60033 ICD-10:J47 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA24 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:211400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613021 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613071 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0339985 E (Exact mapping: the two concepts are equivalent) Alcock syndrome Pudendal algia Pudendal neuralgia Pudendal neuralgia by pudendal nerve entrapment Pudendal neuropathic pain syndrome Pudendal neuropathy Pudendalgia A rare, acquired peripheral neuropathy characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus) aggravated by sitting. It is often associated with pelvic dysfunction. Orphanet ICD-10:G57.8 ICD-11:GA34.0Y MeSH:D060545 UMLS:C1997249 Not applicable Adult France AND has_point_prevalence_average_value : 16.67 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60039 Pudendal nerve entrapment syndrome ORPHA:60039 ICD-10:G57.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GA34.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D060545 E (Exact mapping: the two concepts are equivalent) UMLS:C1997249 E (Exact mapping: the two concepts are equivalent) 9q34.13 KIAA1857 Lmnt2 Netrin-G2 NetrinG2 laminet-2 Ensembl:ENSG00000196358 HGNC:14288 OMIM:618689 SwissProt:Q96CW9 NTNG2 netrin G2 MCAP MCM MCMTC Macrocephaly-capillary malformation syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-capillary malformation syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies. Orphanet ICD-10:Q87.3 ICD-11:LD2F.1Y MeSH:C536142 OMIM:602501 UMLS:C1865285 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 170.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60040 Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536142 E (Exact mapping: the two concepts are equivalent) OMIM:602501 E (Exact mapping: the two concepts are equivalent) UMLS:C1865285 E (Exact mapping: the two concepts are equivalent) Congenital atrioventricular block Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic. Orphanet ICD-10:Q24.6 ICD-11:LA8Y MeSH:C535758 MedDRA:10019263 OMIM:234700 UMLS:C0149530 Not applicable Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 4.54 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=60041 Congenital heart block ORPHA:60041 ICD-10:Q24.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535758 E (Exact mapping: the two concepts are equivalent) MedDRA:10019263 E (Exact mapping: the two concepts are equivalent) OMIM:234700 E (Exact mapping: the two concepts are equivalent) UMLS:C0149530 E (Exact mapping: the two concepts are equivalent) 2q12.1 BRN1 OTF8 Ensembl:ENSG00000198914 HGNC:9216 OMIM:602480 SwissProt:P20264 POU3F3 POU class 3 homeobox 3 5q31.1 PP2AC PP2Calpha protein phosphatase 2A catalytic subunit, alpha isoform Ensembl:ENSG00000113575 HGNC:9299 IUPHAR:3263 OMIM:176915 SwissProt:P67775 PPP2CA protein phosphatase 2 catalytic subunit alpha 19q13.33 Ensembl:ENSG00000126464 HGNC:29217 OMIM:616633 SwissProt:Q9ULL5 PRR12 proline rich 12 21q22.11 DKFZp434E098 KIAA1172 SRA4 Ensembl:ENSG00000156304 HGNC:19304 OMIM:616023 SwissProt:O95104 SCAF4 SR-related CTD associated factor 4 14q11.2 Strap Stress-responsive activator of p300 Ensembl:ENSG00000136319 HGNC:19274 OMIM:619014 SwissProt:Q8N0Z6 TTC5 tetratricopeptide repeat domain 5 14q32.12 Ensembl:ENSG00000012963 HGNC:20344 OMIM:613816 SwissProt:Q8N806 UBR7 ubiquitin protein ligase E3 component n-recognin 7 6q21 KIAA0269 SCAR1 WAVE WAVE1 Ensembl:ENSG00000112290 HGNC:12732 OMIM:605035 SwissProt:Q92558 WASF1 WASP family member 1 2q35 KIAA0236 pHZ-49 Ensembl:ENSG00000115568 HGNC:12927 OMIM:604083 SwissProt:P52746 ZNF142 zinc finger protein 142 7q22.1 G protein, beta-2 subunit guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2 signal-transducing guanine nucleotide-binding regulatory protein beta subunit transducin beta chain 2 Ensembl:ENSG00000172354 HGNC:4398 OMIM:139390 SwissProt:P62879 GNB2 G protein subunit beta 2 6p22.2 H4/j Ensembl:ENSG00000276966 HGNC:4790 OMIM:602830 SwissProt:P62805 H4C5 H4 clustered histone 5 6p22.1 H4/m Ensembl:ENSG00000276180 HGNC:4793 OMIM:602833 SwissProt:P62805 H4C9 H4 clustered histone 9 8q22.3 14-3-3 delta 14-3-3 zeta 14-3-3-zeta KCIP-1 Ensembl:ENSG00000164924 HGNC:12855 OMIM:601288 SwissProt:P63104 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta 5q33.3 FLJ38273 Ensembl:ENSG00000155858 HGNC:30860 OMIM:617910 SwissProt:P83369 LSM11 LSM11, U7 small nuclear RNA associated A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common. Orphanet ICD-10:G96.8 OMIM:614325 UMLS:C5681528 Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance ORPHA:600663 ICD-10:G96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614325 E (Exact mapping: the two concepts are equivalent) UMLS:C5681528 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors. Orphanet ICD-10:G93.8 OMIM:618147 UMLS:C5681527 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome ORPHA:600668 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618147 E (Exact mapping: the two concepts are equivalent) UMLS:C5681527 E (Exact mapping: the two concepts are equivalent) ICD-10:D68.4 UMLS:C5681529 Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600691 Combined deficiency of factor VII and factor X ORPHA:600691 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681529 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. Orphanet ICD-10:Q87.8 MeSH:C536208 OMIM:617752 UMLS:C2931130 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600731 Clark-Baraitser syndrome ORPHA:600731 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536208 E (Exact mapping: the two concepts are equivalent) OMIM:617752 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2931130 E (Exact mapping: the two concepts are equivalent) Legionellosis ICD-10:A48.1 ICD-11:1C19 MeSH:D007876 UMLS:C0023240 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600832 Legionella infection Clinical group ORPHA:600832 ICD-10:A48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:1C19 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007876 E (Exact mapping: the two concepts are equivalent) UMLS:C0023240 E (Exact mapping: the two concepts are equivalent) 17q21.32 Epfn KLF14 epiprofin Ensembl:ENSG00000189120 HGNC:14530 OMIM:608613 SwissProt:Q3SY56 SP6 Sp6 transcription factor 19p13.3 FLJ21925 ICBP90 Np95 RNF106 TDRD22 inverted CCAAT box binding protein 90 Ensembl:ENSG00000276043 HGNC:12556 OMIM:607990 SwissProt:Q96T88 UHRF1 ubiquitin like with PHD and ring finger domains 1 Xq26.3-q27.1 FGF2 FHF2 FLJ30672 fibroblast growth factor homologous factor 2 Ensembl:ENSG00000129682 HGNC:3670 OMIM:300070 SwissProt:Q92913 FGF13 fibroblast growth factor 13 Non-syndromic ARM with cutaneous fistula Non-syndromic ARM with perineal fistula Non-syndromic anorectal malformation with cutaneous fistula ICD-10:Q42.0 ICD-10:Q42.2 ICD-11:LB17.0 UMLS:C5680241 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600952 Non-syndromic anorectal malformation with perineal fistula ORPHA:600952 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680241 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with rectourethral fistula ICD-10:Q42.0 ICD-10:Q42.2 ICD-11:LB17.0 UMLS:C5680240 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600961 Non-syndromic anorectal malformation with rectourethral fistula ORPHA:600961 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680240 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with rectobulbar fistula Non-syndromic ARM with rectourethral fistula, bulbar type Non-syndromic anorectal malformation with rectobulbar fistula ICD-10:Q42.0 ICD-10:Q42.2 UMLS:C5680243 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type Clinical subtype ORPHA:600966 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680243 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with rectoprostatic fistula Non-syndromic ARM with rectourethral fistula, prostatic type Non-syndromic anorectal malformation with rectoprostatic fistula ICD-10:Q42.0 ICD-10:Q42.2 UMLS:C5680242 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type Clinical subtype ORPHA:600975 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680242 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with bladder neck fistula Non-syndromic ARM with rectovesical fistula Non-syndromic anorectal malformation with bladder neck fistula ICD-10:Q42.0 ICD-10:Q42.2 ICD-11:LB17.0 UMLS:C5680237 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600984 Non-syndromic anorectal malformation with rectovesical fistula ORPHA:600984 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680237 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with vestibular fistula ICD-10:Q42.0 ICD-10:Q42.2 ICD-11:LB17.0 UMLS:C5680238 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600993 Non-syndromic anorectal malformation with vestibular fistula ORPHA:600993 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680238 E (Exact mapping: the two concepts are equivalent) ICD-10:Q43.7 UMLS:C5681533 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=600998 Non-syndromic cloacal malformation ORPHA:600998 ICD-10:Q43.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681533 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM without fistula Non-syndromic anorectal malformation with no fistula ICD-10:Q42.1 ICD-10:Q42.3 ICD-11:LB17.0 UMLS:C5680239 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=601002 Non-syndromic anorectal malformation without fistula ORPHA:601002 ICD-10:Q42.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680239 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with anal stenosis ICD-10:Q42.3 ICD-11:LB17.0 UMLS:C5680233 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=601008 Non-syndromic anorectal malformation with anal stenosis ORPHA:601008 ICD-10:Q42.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680233 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with pouch colon ICD-10:Q42.1 ICD-10:Q42.3 ICD-11:LB17.0 UMLS:C5680234 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=601013 Non-syndromic anorectal malformation with pouch colon ORPHA:601013 ICD-10:Q42.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680234 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with rectal atresia ICD-10:Q42.0 ICD-11:LB17.0 UMLS:C5680235 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=601018 Non-syndromic anorectal malformation with rectal atresia ORPHA:601018 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680235 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with rectal stenosis ICD-10:Q42.0 ICD-11:LB17.0 UMLS:C5680236 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=601023 Non-syndromic anorectal malformation with rectal stenosis ORPHA:601023 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680236 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with rectovaginal fistula ICD-10:Q42.0 ICD-10:Q42.2 ICD-11:LB17.0 UMLS:C5680231 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=601028 Non-syndromic anorectal malformation with rectovaginal fistula ORPHA:601028 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680231 E (Exact mapping: the two concepts are equivalent) Non-syndromic ARM with H-type fistula ICD-10:Q42.0 ICD-10:Q42.2 ICD-11:LB17.0 UMLS:C5680232 Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=601033 Non-syndromic anorectal malformation with H-type fistula ORPHA:601033 ICD-10:Q42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q42.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680232 E (Exact mapping: the two concepts are equivalent) 1p36.33 PKC2 Ensembl:ENSG00000067606 HGNC:9412 IUPHAR:1491 OMIM:176982 SwissProt:Q05513 PRKCZ protein kinase C zeta 1p36.22 E4 KIAA0684 UBOX3 UFD2 Ensembl:ENSG00000130939 HGNC:12500 OMIM:613565 SwissProt:O95155 UBE4B ubiquitination factor E4B 1p36.33 MIFR MIFR-1 femalysin matrix metalloproteinase 22 matrix metalloproteinase in the female reproductive tract Ensembl:ENSG00000189409 HGNC:7171 IUPHAR:1645 OMIM:603321 SwissProt:O75900 MMP23B matrix metallopeptidase 23B 1p36.21 D2-40 GP40 Gp38 PA2.26 T1A-2 aggrus lung type I cell membrane associated glycoprotein Ensembl:ENSG00000162493 HGNC:29602 OMIM:608863 SwissProt:Q86YL7 PDPN podoplanin 1p36.12 LUZP Ensembl:ENSG00000169641 HGNC:14985 OMIM:601422 SwissProt:Q86V48 LUZP1 leucine zipper protein 1 11q13.4 Ensembl:ENSG00000186642 HGNC:8777 IUPHAR:1297 OMIM:602658 SwissProt:O00408 PDE2A phosphodiesterase 2A 11p11.2 DENN IG20 Insuloma-Glucagonoma protein 20 KIAA0358 RAB3GEP differentially expressed in normal and neoplastic cells Ensembl:ENSG00000110514 HGNC:6766 OMIM:603584 SwissProt:Q8WXG6 MADD MAP kinase activating death domain 14q23.1 SIX6OS1 Ensembl:ENSG00000179008 HGNC:19849 OMIM:617307 SwissProt:Q8N1H7 C14ORF39 chromosome 14 open reading frame 39 10p14 BRUNOL3 Etr-3 NAPOR-2 Ensembl:ENSG00000048740 HGNC:2550 OMIM:602538 SwissProt:O95319 CELF2 CUGBP Elav-like family member 2 1p36.33 FLJ22215 VWA-1 WARP Ensembl:ENSG00000179403 HGNC:30910 OMIM:611901 SwissProt:Q6PCB0 VWA1 von Willebrand factor A domain containing 1 19p13.12 GIPC GLUT1CBP Hs.6454 NIP SEMCAP SYNECTIN TIP-2 Ensembl:ENSG00000123159 HGNC:1226 OMIM:605072 SwissProt:O14908 GIPC1 GIPC PDZ domain containing family member 1 DMRV Distal myopathy with rimmed vacuoles Distal myopathy, Nonaka type HIBM2 Hereditary inclusion body myopathy type 2 IBM2 Inclusion body myopathy type 2 Nonaka myopathy Quadriceps-sparing myopathy GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles. Orphanet ICD-10:G71.8 ICD-11:8C75 MeSH:C536816 MedDRA:10077945 OMIM:605820 OMIM:617158 UMLS:C1853926 Autosomal dominant Autosomal recessive Adolescent Adult Specific population AND has_point_prevalence_average_value : 66.7 AND has_point_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=602 GNE myopathy ORPHA:602 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536816 E (Exact mapping: the two concepts are equivalent) MedDRA:10077945 E (Exact mapping: the two concepts are equivalent) OMIM:605820 E (Exact mapping: the two concepts are equivalent) OMIM:617158 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1853926 E (Exact mapping: the two concepts are equivalent) 14q32.13 OL-64 Vaspin visceral adipose tissue-derived serine protease inhibitor Ensembl:ENSG00000165953 HGNC:18359 OMIM:617471 SwissProt:Q8IW75 SERPINA12 serpin family A member 12 22q13.1 Cby Chibby Chibby1 PIGEA-14 PIGEA14 chibby CTNNB1-mediated transcription inhibitor Ensembl:ENSG00000100211 HGNC:1307 OMIM:607757 SwissProt:Q9Y3M2 CBY1 chibby 1, beta catenin antagonist 2q31.1 Ensembl:ENSG00000128654 HGNC:7506 OMIM:608555 SwissProt:O75431 MTX2 metaxin 2 5q31.3 FinGER5 SMAP-5 YIPFalpha1A Yip1a Ensembl:ENSG00000145817 HGNC:24877 OMIM:611483 SwissProt:Q969M3 YIPF5 Yip1 domain family member 5 14q23.3 FLJ12615 protein associated with Lin-7 1 stardust Ensembl:ENSG00000072415 HGNC:18669 OMIM:606958 SwissProt:Q8N3R9 PALS1 protein associated with LIN7 1, MAGUK p55 family member 19p13.3 KIAA0876 TDRD14B tudor domain containing 14B Ensembl:ENSG00000127663 HGNC:29136 IUPHAR:2676 OMIM:609765 SwissProt:O94953 KDM4B lysine demethylase 4B 6p21.2 KIAA0381 NPHS24 Ensembl:ENSG00000146122 HGNC:18143 OMIM:606627 SwissProt:Q86T65 DAAM2 dishevelled associated activator of morphogenesis 2 WDM A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. Orphanet ICD-10:G71.0 ICD-11:8C75 MedDRA:10078052 OMIM:604454 UMLS:C0221054 Autosomal dominant Adult Sweden AND has_point_prevalence_average_value : 100.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603 Distal myopathy, Welander type ORPHA:603 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10078052 E (Exact mapping: the two concepts are equivalent) OMIM:604454 E (Exact mapping: the two concepts are equivalent) UMLS:C0221054 E (Exact mapping: the two concepts are equivalent) 10q23.33 KIAA1207 fer-1-like family member 3 Ensembl:ENSG00000138119 HGNC:3656 OMIM:604603 SwissProt:Q9NZM1 MYOF myoferlin 16p13.3 Ensembl:ENSG00000162040 HGNC:14178 OMIM:619210 SwissProt:Q96QI5 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 19q13.2 CD66d CGM1a Ensembl:ENSG00000170956 HGNC:1815 OMIM:609142 SwissProt:P40198 CEACAM3 CEA cell adhesion molecule 3 19q13.2 CD66c NCA-50/90 Ensembl:ENSG00000086548 HGNC:1818 OMIM:163980 SwissProt:P40199 CEACAM6 CEA cell adhesion molecule 6 1p13.3 GST5 GSTM3TV2 Ensembl:ENSG00000134202 HGNC:4635 OMIM:138390 SwissProt:P21266 GSTM3 glutathione S-transferase mu 3 CIMDAG syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment,dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. Orphanet ICD-10:Q04.8 OMIM:619273 UMLS:C5543287 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619273 E (Exact mapping: the two concepts are equivalent) UMLS:C5543287 E (Exact mapping: the two concepts are equivalent) COMMAD syndrome A rare syndromic optic nerve hypoplasia characterized by coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Orphanet ICD-10:Q87.8 OMIM:617306 UMLS:C4310625 Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617306 E (Exact mapping: the two concepts are equivalent) UMLS:C4310625 E (Exact mapping: the two concepts are equivalent) ICD-10:Q54.8 ICD-11:LB53.Y UMLS:C5681495 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603515 Isolated female hypospadias ORPHA:603515 ICD-10:Q54.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB53.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681495 E (Exact mapping: the two concepts are equivalent) PERCHING syndrome A rare genetic, multiple congenital anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome. Orphanet ICD-10:Q87.8 UMLS:C4310742 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4310742 E (Exact mapping: the two concepts are equivalent) KLHL7-related BOS-like syndrome A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described. Orphanet ICD-10:Q87.8 OMIM:617055 UMLS:C5680210 Antenatal Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603689 KLHL7-related Bohring-Opitz-like syndrome ORPHA:603689 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617055 E (Exact mapping: the two concepts are equivalent) UMLS:C5680210 E (Exact mapping: the two concepts are equivalent) KLHL7-related Crisponi-like syndrome A rare genetic, multiple congenital anomalies syndrome characterized by several of the typical clinical features of Crisponi Syndrome/cold-induced sweating syndrome such as hyperthermia in the first months of life, dysmorphism, feeding and respiratory difficulties, contraction of oropharyngeal muscles, joint contractures with camptodactyly and early onset retinitis pigmentosa, but lacking cold-induced sweating. In contrast to Crisponi and cold-induced sweating syndromes, intellectual disability is reported. Orphanet ICD-10:Q87.8 UMLS:C5680211 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome ORPHA:603694 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680211 E (Exact mapping: the two concepts are equivalent) A group of multiple congenital anomalies syndromes associated to <i>KLHL7</i> biallelic variants, ranging from a phenotype partially overlapping the Bohring-Opitz syndrome (BOS) to a phenotype overlapping the Crisponi/Cold-Induced Sweating syndrome (CS/CISS), with some patients presenting features of both conditions. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=603699 Recessive KLHL7-related disorder Clinical group ORPHA:603699 Symptomatic form of X-linked myotubular myopathy in female carriers Symptomatic form of XLCNM in female carriers Symptomatic form of XLMTM in female carriers A rare centronuclear myopathy characterized by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic. Orphanet ICD-10:G71.2 OMIM:310400 UMLS:C5680221 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=604680 Symptomatic form of X-linked centronuclear myopathy in female carriers ORPHA:604680 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:310400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680221 E (Exact mapping: the two concepts are equivalent) 17p11.2 SREBP-1c SREBP1 SREBP1a Sterol regulatory element-binding protein 1 bHLHd1 Ensembl:ENSG00000072310 HGNC:11289 OMIM:184756 SwissProt:P36956 SREBF1 sterol regulatory element binding transcription factor 1 Myotonic dystrophy type 2 Proximal myotonic dystrophy Ricker disease Ricker syndrome A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders. Orphanet ICD-10:G71.1 ICD-11:8C71.0 OMIM:602668 UMLS:C2931689 Autosomal dominant Adolescent Adult Elderly Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=606 Proximal myotonic myopathy ORPHA:606 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:602668 E (Exact mapping: the two concepts are equivalent) UMLS:C2931689 E (Exact mapping: the two concepts are equivalent) NEM NM Nemaline rod myopathy Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. Orphanet ICD-11:8C72.00 MeSH:D017696 UMLS:C0206157 Autosomal dominant Autosomal recessive Not applicable All ages Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=607 Nemaline myopathy Clinical group ORPHA:607 ICD-11:8C72.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017696 E (Exact mapping: the two concepts are equivalent) UMLS:C0206157 E (Exact mapping: the two concepts are equivalent) Distal myopathy, Udd type Distal titinopathy Finnish tibial muscular dystrophy TMD Udd myopathy Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. Orphanet ICD-10:G71.0 ICD-11:8C75 OMIM:600334 UMLS:C1450052 Autosomal dominant Autosomal recessive Adult Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=609 Tibial muscular dystrophy ORPHA:609 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600334 E (Exact mapping: the two concepts are equivalent) UMLS:C1450052 E (Exact mapping: the two concepts are equivalent) 4q25 FLJ22670 KIAA1527 Lak lymphocyte alpha-kinase Ensembl:ENSG00000073331 HGNC:20917 IUPHAR:1930 OMIM:607347 SwissProt:Q96QP1 ALPK1 alpha kinase 1 9q22.2 CD100 FLJ39737 M-sema G coll-4 Ensembl:ENSG00000187764 HGNC:10732 IUPHAR:2883 OMIM:601866 SwissProt:Q92854 SEMA4D semaphorin 4D 16p11.2 DKFZP434I2117 Ensembl:ENSG00000149926 HGNC:25295 OMIM:615175 SwissProt:Q71RH2 TLCD3B TLC domain containing 3B 2p23.3 CRAM CRMP-5 CRMP5 CV2 Ulip6 collapsin response mediator protein 5 Ensembl:ENSG00000157851 HGNC:20637 OMIM:608383 SwissProt:Q9BPU6 DPYSL5 dihydropyrimidinase like 5 1p34.3 NCDN-1 NCDN-2 norbin Ensembl:ENSG00000020129 HGNC:17597 OMIM:608458 SwissProt:Q9UBB6 NCDN neurochondrin 11q23.3 E4 KIAA0126 UBOX2 UFD2 Ensembl:ENSG00000110344 HGNC:12499 OMIM:603753 SwissProt:Q14139 UBE4A ubiquitination factor E4A 19p13.11 KIAA0700 Paired amphipathic helix protein Sin3b Ensembl:ENSG00000127511 HGNC:19354 OMIM:607777 SwissProt:O75182 SIN3B SIN3 transcription regulator family member B 19p13.2 MGC33407 Ensembl:ENSG00000181786 HGNC:28494 OMIM:619251 SwissProt:Q8TC94 ACTL9 actin like 9 9q34.13 CRSP34 MED3 TRAP37 Ensembl:ENSG00000160563 HGNC:2377 OMIM:605044 SwissProt:Q6P2C8 MED27 mediator complex subunit 27 7p14.1 HVSP41 Ensembl:ENSG00000006715 HGNC:12713 OMIM:605485 SwissProt:P49754 VPS41 VPS41 subunit of HOPS complex 3p22.2 KIAA0342 LBA1 lupus brain antigen 1 Ensembl:ENSG00000168016 HGNC:29011 OMIM:619316 SwissProt:O15050 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 2p22.2 PKR PPP1R83 Protein Kinase R Protein Kinase RNA-activated protein kinase RNA-regulated protein phosphatase 1, regulatory subunit 83 Ensembl:ENSG00000055332 HGNC:9437 IUPHAR:2016 OMIM:176871 SwissProt:P19525 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 14q21.3 FLJ10051 NY-CO-1 New-York Colon 1 RQC2 Ribosome quality control complex subunit NEMF caliban homolog (Drosophila) Ensembl:ENSG00000165525 HGNC:10663 OMIM:608378 SwissProt:O60524 NEMF nuclear export mediator factor 3p26.1 GLUR7 GPRC1G MGLUR7 PPP1R87 mGlu7 protein phosphatase 1, regulatory subunit 87 Ensembl:ENSG00000196277 HGNC:4599 IUPHAR:295 OMIM:604101 SwissProt:Q14831 GRM7 glutamate metabotropic receptor 7 1p34.1 4-HPPD-L MGC15668 Ensembl:ENSG00000186603 HGNC:28242 OMIM:618994 SwissProt:Q96IR7 HPDL 4-hydroxyphenylpyruvate dioxygenase like 1p22.3 KIAA0448 Ensembl:ENSG00000153936 HGNC:5193 OMIM:604844 SwissProt:Q7LGA3 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 Lysosomal alpha-D-mannosidase deficiency An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. Orphanet ICD-10:E77.1 ICD-11:5C56.21 MeSH:D008363 MedDRA:10083855 OMIM:248500 UMLS:C0024748 Autosomal recessive Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.09 AND has_birth_prevalence_range : <1 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.09 AND has_birth_prevalence_range : <1 / 1 000 000 Norway AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=61 Alpha-mannosidosis ORPHA:61 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008363 E (Exact mapping: the two concepts are equivalent) MedDRA:10083855 E (Exact mapping: the two concepts are equivalent) OMIM:248500 E (Exact mapping: the two concepts are equivalent) UMLS:C0024748 E (Exact mapping: the two concepts are equivalent) Bethlem myopathy LGMD D5 collagen 6-related dystrophy LGMD D5 collagen VI-related dystrophy LGMD R22 collagen 6-related dystrophy LGMD R22 collagen VI-related dystrophy Mild form of COL6-related dystrophy Mild form of collagen VI-related dystrophy A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. Orphanet ICD-10:G71.0 ICD-11:8C70.6 MeSH:C535436 OMIM:158810 OMIM:616471 OMIM:620725 OMIM:620726 UMLS:C1834674 Autosomal dominant Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=610 Bethlem muscular dystrophy ORPHA:610 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535436 E (Exact mapping: the two concepts are equivalent) OMIM:158810 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616471 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620725 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620726 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1834674 E (Exact mapping: the two concepts are equivalent) Alkuraya-Kucinskas syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in <i>KIAA1109</i> gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support,epilepsy, syndactlyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Orphanet ICD-10:Q68.8 OMIM:617822 UMLS:C4693347 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617822 E (Exact mapping: the two concepts are equivalent) UMLS:C4693347 E (Exact mapping: the two concepts are equivalent) A rare genetic neurodegenerative disease characterized by childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency that may lead to ventilator dependency and/or tracheostomy) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. Orphanet ICD-10:G31.8 ICD-10:G93.8 OMIM:619173 UMLS:C5543020 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome ORPHA:610573 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619173 E (Exact mapping: the two concepts are equivalent) UMLS:C5543020 E (Exact mapping: the two concepts are equivalent) 1p36.22 CLC-6 ClC-6 KIAA0046 Ensembl:ENSG00000011021 HGNC:2024 IUPHAR:705 OMIM:602726 SwissProt:P51797 CLCN6 chloride voltage-gated channel 6 IBM Sporadic inclusion body myositis sIBM A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features. Orphanet ICD-10:M60.8 ICD-11:4A41.20 MeSH:D018979 MedDRA:10066407 OMIM:147421 UMLS:C0238190 Not applicable Adult Elderly Australia AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611 Inclusion body myositis ORPHA:611 ICD-10:M60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018979 E (Exact mapping: the two concepts are equivalent) MedDRA:10066407 E (Exact mapping: the two concepts are equivalent) OMIM:147421 E (Exact mapping: the two concepts are equivalent) UMLS:C0238190 E (Exact mapping: the two concepts are equivalent) 13q32.1 L-dopachrome isomerase L-dopachrome tautomerase TRP-2 TRP2 dopachrome delta-isomerase Ensembl:ENSG00000080166 HGNC:2709 OMIM:191275 SwissProt:P40126 DCT dopachrome tautomerase 6q25.3 FLJ40240 Trimmer dJ195P10.2 Ensembl:ENSG00000146453 HGNC:21185 OMIM:619529 SwissProt:Q8NA58 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 OGIN Syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, bleaked nose, and small pointed chin). Orphanet ICD-10:Q87.8 OMIM:619318 UMLS:C5543355 Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611201 Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619318 E (Exact mapping: the two concepts are equivalent) UMLS:C5543355 E (Exact mapping: the two concepts are equivalent) SHILCA syndrome A rare primary bone dysplasia characterized by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinization, white matter hyperintensity, hypomyelinating leukoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. Orphanet ICD-10:Q87.8 OMIM:619260 UMLS:C5543257 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619260 E (Exact mapping: the two concepts are equivalent) UMLS:C5543257 E (Exact mapping: the two concepts are equivalent) AMeD syndrome A rare constitutional aplastic anemia characterized by aplastic anemia, intellectual disability, short stature and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia. Orphanet ICD-10:D61.0 OMIM:619151 UMLS:C5436906 Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611216 Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619151 E (Exact mapping: the two concepts are equivalent) UMLS:C5436906 E (Exact mapping: the two concepts are equivalent) ENDOVE syndrome ENDOVES A rare mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Orphanet ICD-10:Q87.2 OMIM:619217 OMIM:619218 UMLS:C5680225 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611223 EN1-related dorsoventral syndrome ORPHA:611223 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619217 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619218 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680225 E (Exact mapping: the two concepts are equivalent) A rare parkinsonian syndrome due to neurodegenerative disease characterized by resting tremor (which may initially be asymmetric), rigidity, and bradykinesia. Polyneuropathy with neurogenic electromyography findings is present in the majority of the patients and reported in young age (early twenties) whereas parkinsonian symptoms are visible later in life (between 40 and 70 years of age). Additional clinical symptoms may include anxiety and depression. Mild diffuse muscular atrophy can also be detected in some patients. Orphanet ICD-10:G20 OMIM:619279 UMLS:C5543299 Adult Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611237 Parkinsonism with polyneuropathy ORPHA:611237 ICD-10:G20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619279 E (Exact mapping: the two concepts are equivalent) UMLS:C5543299 E (Exact mapping: the two concepts are equivalent) PCH11 Pontocerebellar hypoplasia due to TBC1D23 A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 OMIM:617695 UMLS:C4540164 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611247 Pontocerebellar hypoplasia type 11 ORPHA:611247 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617695 E (Exact mapping: the two concepts are equivalent) UMLS:C4540164 E (Exact mapping: the two concepts are equivalent) COASY-related pontocerebellar hypoplasia PCH12 A lethal form of pontocerebellar hypoplasia characterized by prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 OMIM:618266 UMLS:C4748873 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611256 Pontocerebellar hypoplasia type 12 ORPHA:611256 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618266 E (Exact mapping: the two concepts are equivalent) UMLS:C4748873 E (Exact mapping: the two concepts are equivalent) UMLS:C5681520 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome Category ORPHA:611314 UMLS:C5681520 E (Exact mapping: the two concepts are equivalent) Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism UMLS:C5680226 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability Category ORPHA:611327 UMLS:C5680226 E (Exact mapping: the two concepts are equivalent) K+-aggravated myotonia K-aggravated myotonia PAM A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. Orphanet MeSH:C538353 OMIM:608390 UMLS:C2931826 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=612 Potassium-aggravated myotonia Clinical group ORPHA:612 MeSH:C538353 E (Exact mapping: the two concepts are equivalent) OMIM:608390 E (Exact mapping: the two concepts are equivalent) UMLS:C2931826 E (Exact mapping: the two concepts are equivalent) PCH13 A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 OMIM:618606 UMLS:C5231425 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=613267 Pontocerebellar hypoplasia type 13 ORPHA:613267 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618606 E (Exact mapping: the two concepts are equivalent) UMLS:C5231425 E (Exact mapping: the two concepts are equivalent) PCH14 A form of pontocerebellar hypoplasia characterized by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anemia and thrombocytopenia have also been reported. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 OMIM:619301 UMLS:C5543322 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=613274 Pontocerebellar hypoplasia type 14 ORPHA:613274 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619301 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5543322 E (Exact mapping: the two concepts are equivalent) 4q13.3 FLJ22206 GTAR KIAA0697 MASK2 NY-BR-16 Ensembl:ENSG00000132466 HGNC:23575 OMIM:615929 SwissProt:O75179 ANKRD17 ankyrin repeat domain 17 17q12 DNA ligase III LIG3alpha Ensembl:ENSG00000005156 HGNC:6600 OMIM:600940 SwissProt:P49916 LIG3 DNA ligase 3 16q22.2 gamma1-adaptin Ensembl:ENSG00000166747 HGNC:555 OMIM:603533 SwissProt:O43747 AP1G1 adaptor related protein complex 1 subunit gamma 1 19q13.33 HSM1 HSS1 INM02 hematopoietic signal peptide-containing membrane domain-containing 1 hematopoietic signal peptide-containing secreted 1 Ensembl:ENSG00000161671 HGNC:27609 OMIM:614545 SwissProt:Q5UCC4 EMC10 ER membrane protein complex subunit 10 17q23.2 FLJ20128 PHAF2 Rudhira phagophore assembly factor 2 Ensembl:ENSG00000141376 HGNC:14347 OMIM:607470 SwissProt:Q9H6U6 BCAS3 BCAS3 microtubule associated cell migration factor 2p16.2 Beta-II spectrin Fodrin beta chain Ensembl:ENSG00000115306 HGNC:11275 OMIM:182790 SwissProt:Q01082 SPTBN1 spectrin beta, non-erythrocytic 1 5p13.2 DKFZp434H2226 Ensembl:ENSG00000164187 HGNC:25287 OMIM:619490 SwissProt:Q68DH5 LMBRD2 LMBR1 domain containing 2 22q13.1 Cav3.3 Voltage-dependent T-type calcium channel subunit alpha-1I Voltage-gated calcium channel subunit alpha Cav3.3 Ensembl:ENSG00000100346 HGNC:1396 IUPHAR:537 OMIM:608230 SwissProt:Q9P0X4 CACNA1I calcium voltage-gated channel subunit alpha1 I 16q12.1 FLJ20718 Ensembl:ENSG00000155393 HGNC:26087 OMIM:614951 SwissProt:Q7Z4Q2 HEATR3 HEAT repeat containing 3 6p24.3 MU dJ303A1.3 Ensembl:ENSG00000188428 HGNC:18561 OMIM:607289 SwissProt:Q8TDH9 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 Myotonia congenita A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). Orphanet ICD-10:G71.1 ICD-11:8C71.2 MedDRA:10028655 OMIM:160800 OMIM:255700 UMLS:C0027127 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 7.3 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.75 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.52 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=614 Thomsen and Becker disease ORPHA:614 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C71.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10028655 E (Exact mapping: the two concepts are equivalent) OMIM:160800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:255700 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0027127 E (Exact mapping: the two concepts are equivalent) 12p13.31 RNA, small nuclear U7.1 U7.1 Ensembl:ENSG00000238923 HGNC:34033 OMIM:617876 RNU7-1 RNA, U7 small nuclear 1 19q13.11 FLJ13058 HRIHFB2115 UBA2, ubiquitin-activating enzyme E1 homolog (yeast) Ensembl:ENSG00000126261 HGNC:30661 OMIM:613295 SwissProt:Q9UBT2 UBA2 ubiquitin like modifier activating enzyme 2 4q22.3 Ensembl:ENSG00000163114 HGNC:8807 OMIM:179061 SwissProt:P29803 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 A rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema. Orphanet ICD-10:D15.1 ICD-11:2F01 MeSH:C538262 OMIM:255960 UMLS:C1850635 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 17.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615 Familial atrial myxoma ORPHA:615 ICD-10:D15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538262 E (Exact mapping: the two concepts are equivalent) OMIM:255960 E (Exact mapping: the two concepts are equivalent) UMLS:C1850635 E (Exact mapping: the two concepts are equivalent) 1p34.3 FLJ23476 IRIP SUA5 ischemia/reperfusion inducible protein Ensembl:ENSG00000196449 HGNC:28905 OMIM:612276 SwissProt:Q86U90 YRDC yrdC N6-threonylcarbamoyltransferase domain containing 17q22 ARTS CE5B3 FLJ40121 H5 MART Septin-4 bradeoin hCDCREL-2 hucep-7 septin-M Ensembl:ENSG00000108387 HGNC:9165 OMIM:603696 SwissProt:O43236 SEPTIN4 septin 4 10q24.32 HPX6 LBX1H Ensembl:ENSG00000138136 HGNC:16960 OMIM:604255 SwissProt:P52954 LBX1 ladybird homeobox 1 Fatty acyl-CoA reductase 1 superactivity A rare disorder of fatty acid biosynthesis characterized by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. Orphanet ICD-10:E71.3 OMIM:619338 UMLS:C5543440 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615938 Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619338 E (Exact mapping: the two concepts are equivalent) UMLS:C5543440 E (Exact mapping: the two concepts are equivalent) Facial granuloma of Lever Granuloma of Lever ICD-10:L92.2 ICD-11:EF40.20 MedDRA:10063944 UMLS:C0239495 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615943 Granuloma faciale ORPHA:615943 ICD-10:L92.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EF40.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10063944 E (Exact mapping: the two concepts are equivalent) UMLS:C0239495 E (Exact mapping: the two concepts are equivalent) Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome ICD-10:Q04.8 ICD-11:LD20.0Y OMIM:618810 UMLS:C5680387 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome ORPHA:615954 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618810 E (Exact mapping: the two concepts are equivalent) UMLS:C5680387 E (Exact mapping: the two concepts are equivalent) Acute reversible leukoencephalopathy due to SLC13A3 deficiency Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. Orphanet ICD-10:G93.4 OMIM:618384 UMLS:C5193068 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate ORPHA:615964 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618384 E (Exact mapping: the two concepts are equivalent) UMLS:C5193068 E (Exact mapping: the two concepts are equivalent) CIUE A rare disorder related to pregnancy characterized by a placental inflammatory process with clusters of histiocytes and associated fibrin in intervillous spaces, resulting in adverse pregnancy outcomes including intrauterine growth restriction, preterm birth, and pregnancy loss. Higher grading according to the proportion of involved intervillous space has been associated with poorer outcomes. There is a significant risk of recurrence in subsequent pregnancies. Orphanet ICD-10:O43.8 UMLS:C5680386 Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615970 Chronic intervillositis of unknown etiology ORPHA:615970 ICD-10:O43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680386 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.8 ICD-11:LD20.0Y OMIM:618810 UMLS:C5681819 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Etiological subtype ORPHA:615983 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618810 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681819 E (Exact mapping: the two concepts are equivalent) Lethal 1p36.33 deletion syndrome ICD-10:Q04.8 ICD-11:LD20.0Y OMIM:618810 UMLS:C5680385 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Etiological subtype ORPHA:615986 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618810 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680385 E (Exact mapping: the two concepts are equivalent) A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4). Orphanet ICD-10:C71.6 ICD-11:2A00.10 MeSH:D008527 MedDRA:10027107 OMIM:155255 UMLS:C0025149 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=616 Medulloblastoma ORPHA:616 ICD-10:C71.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008527 E (Exact mapping: the two concepts are equivalent) MedDRA:10027107 E (Exact mapping: the two concepts are equivalent) OMIM:155255 E (Exact mapping: the two concepts are equivalent) UMLS:C0025149 E (Exact mapping: the two concepts are equivalent) Fully investigated rare disorder without a determined diagnosis A rare disorder for which all reasonable efforts have been done by rare diseases experts to determine a diagnosis according to the state of the art and available diagnostic capabilities, but did not enable to conclude on a clinically known concept. It is recommended to restrict the use of this entity for coding purposes to rare disease experts. Orphanet ICD-10:R69 ICD-11:MG48 UMLS:C5680389 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=616874 Rare disorder without a determined diagnosis after full investigation ORPHA:616874 ICD-10:R69 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MG48 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680389 E (Exact mapping: the two concepts are equivalent) Congenital primary megalo-ureter A rare non-syndromic urogenital tract malformation characterized by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing. Orphanet ICD-10:Q62.2 ICD-11:LB31.1 UMLS:C4273898 Unknown Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617 Congenital primary megaureter ORPHA:617 ICD-10:Q62.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB31.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4273898 E (Exact mapping: the two concepts are equivalent) TAPS A rare disorder related to monochorionic twin pregnancy characterized by unbalanced inter-twin blood transfusion with subsequent anemia in the donor and polycythemia in the recipient twin. Amniotic fluid abnormalities are absent. Doppler measurement of middle cerebral artery peak systolic velocities reveals significantly discordant velocities. The condition can occur spontaneously or complicate incomplete fetoscopic laser surgery. Orphanet ICD-10:O31.8 UMLS:C5576360 Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617294 Twin anemia-polycythemia sequence ORPHA:617294 ICD-10:O31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5576360 E (Exact mapping: the two concepts are equivalent) TRAP A rare disorder related to monochorionic twin pregnancy characterized by complete or partial absence of cardiac development in one twin (''acardiac twin'') and blood supply of both circulations by the morphologically normal co-twin (''pump twin'') via an arterioarterial anastomosis. In most cases, the acardiac twin has well developed legs and pelvis but no cephalic pole, thoracic organs, and upper extremities. The condition is associated with a high risk of perinatal death of the pump twin due to a combination of high-output cardiac failure and polyhydramnios-related pre-term birth. Hypoxia and intrauterine growth restriction are also seen in the pump twin. Orphanet ICD-10:O31.8 UMLS:C5575500 Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617297 Twin-reversed arterial perfusion sequence ORPHA:617297 ICD-10:O31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5575500 E (Exact mapping: the two concepts are equivalent) Selective fetal growth restriction sFGR sIUGR A rare disorder related to monochorionic twin pregnancy characterized by unequal placental sharing leading to growth restriction in one twin according to the following criteria: estimated fetal weight (EFW) of one twin below the 3rd percentile as a solitary parameter, or fulfilment of at least two out of four contributory parameters (EFW of one twin below the 10th percentile, abdominal circumference of one twin below the 10th percentile, EFW discordance of &#8805; 25%, umbilical artery pulsatility index of the smaller twin above the 95th percentile). Early severe forms are associated with a significant risk of intrauterine demise or neurological adverse outcome for both twins. Orphanet ICD-10:O31.8 UMLS:C5681824 Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617301 Selective intrauterine growth restriction ORPHA:617301 ICD-10:O31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681824 E (Exact mapping: the two concepts are equivalent) A rare obstetric condition characterized by entry of amniotic fluid and fetal elements into the maternal circulation, causing an emergency situation with sudden cardiovascular collapse, disseminated intravascular coagulation, and high lethality. In most instances it occurs during labor, cesarean delivery, or within 30 minutes postpartum. Patients present acute dyspnea and cough, acute hypotension, encephalopathy with altered mental status and seizures, hypoxia and cyanosis, coagulopathy, severe hemorrhage, uterine atony, acute pulmonary hypertension, and cardiac arrest. Orphanet ICD-10:O88.1 ICD-11:JB42.1 MeSH:D004619 UMLS:C0013927 Adult United Kingdom AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617304 Amniotic fluid embolism ORPHA:617304 ICD-10:O88.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JB42.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004619 E (Exact mapping: the two concepts are equivalent) UMLS:C0013927 E (Exact mapping: the two concepts are equivalent) UMLS:C5681821 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617307 Rare disorder related to monochorionic twin pregnancy Category ORPHA:617307 UMLS:C5681821 E (Exact mapping: the two concepts are equivalent) UMLS:C5681823 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617310 Rare disorder due to unbalanced inter-twin blood transfusion Category ORPHA:617310 UMLS:C5681823 E (Exact mapping: the two concepts are equivalent) UMLS:C5681822 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617313 Rare disorder due to inadequate sharing of the placenta Category ORPHA:617313 UMLS:C5681822 E (Exact mapping: the two concepts are equivalent) Classic EPF Ofuji disease A rare skin disease characterized by non-infectious eosinophilic infiltration of the hair follicles. Patients present with chronically recurrent crops of itchy follicular papulopustules with peripheral extension and central clearing. Small papules tend to enlarge and coalesce into large plaques. The lesions favor the face and trunk, although the extremities can also be involved. Laboratory analysis may show peripheral leukocytosis and eosinophilia, while, clinically, systemic involvement is not evident. Orphanet ICD-10:L73.8 UMLS:C0406305 Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617408 Classic eosinophilic pustular folliculitis ORPHA:617408 ICD-10:L73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0406305 E (Exact mapping: the two concepts are equivalent) PLMT syndrome A rare neurologic (adult-onset) movement disorder characterized by persistent pain (unilateral or bilateral) in the feet or legs (most commonly the hemi-lower limbs) and persistant twisting, non-rhythmic, involuntary movements of one or more toes. Chronic "deep aching pulling pain" includes tingling, numbness, aching, dullness, cramp, shooting, sharp, burning, and prickling. Orphanet ICD-10:G25.8 UMLS:C5680388 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617440 Painful legs and moving toes syndrome ORPHA:617440 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680388 E (Exact mapping: the two concepts are equivalent) A rare genetic disorder involving multiple structures of the eye, characterized by the combination of congenital aphakia and panocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posteriour segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed. Orphanet ICD-10:Q13.8 UMLS:C5681820 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome ORPHA:617449 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681820 E (Exact mapping: the two concepts are equivalent) 20p11.23 N-acetyltransferase 3 homolog (S. cerevisiae) NAT3 dJ1002M8.1 Ensembl:ENSG00000173418 HGNC:15908 OMIM:610833 SwissProt:P61599 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit 17q21.32 WNT14B Ensembl:ENSG00000158955 HGNC:12779 OMIM:602864 SwissProt:O14905 WNT9B Wnt family member 9B 1p36.12 FLJ11328 FLJ20103 FLJ23054 FLJ23277 MGC14879 Ensembl:ENSG00000090686 HGNC:18533 OMIM:617445 SwissProt:Q86UV5 USP48 ubiquitin specific peptidase 48 13q14.2 IPOA4 SRP1gamma SRP4 hSRP1 importin alpha 4 importin subunit alpha-4 Ensembl:ENSG00000102753 HGNC:6396 OMIM:601892 SwissProt:O00505 KPNA3 karyopherin subunit alpha 3 4q33 CLC3 ClC-3 Ensembl:ENSG00000109572 HGNC:2021 IUPHAR:702 OMIM:600580 SwissProt:P51790 CLCN3 chloride voltage-gated channel 3 2p14 FLJ21897 FLJ31917 Spred-2 Ensembl:ENSG00000198369 HGNC:17722 OMIM:609292 SwissProt:Q7Z698 SPRED2 sprouty related EVH1 domain containing 2 Conjunctival melanoma A rare eye tumor characterized by a flat to nodular conjunctival mass with variable pigmentation. It can arise in any part of the conjunctiva but most often presents on the bulbar surface, near the limbus. Invasion of corneal tissue, eyelid margin, sclera or orbit may occur in advanced tumors. Metastatic spread most commonly involves regional lymph nodes or the lung, liver, and brain. Essential diagnostic criteria are stromal invasion and severe cytological and architectural atypia exceeding those expected in a naevus. Desirable criteria are demonstration of melanocytic markers by immunohistochemistry, pagetoid growth, mitotic activity, invasion into cornea or skin, ulceration, and tumor necrosis. Orphanet ICD-10:C69.0 ICD-11:2D00.0 MedDRA:10066384 UMLS:C0346360 Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617910 Conjunctival malignant melanoma ORPHA:617910 ICD-10:C69.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2D00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066384 E (Exact mapping: the two concepts are equivalent) UMLS:C0346360 E (Exact mapping: the two concepts are equivalent) A rare pulmonary neuroendocrine tumor, most often presenting in women over 50 years and no smokers, characterized by long-lasting cough (>10 years), and less frequently by dispnea or wheezing. A proportion of patients are asymptomatic, the disease being an incidental finding during routine check-ups. Diffuse pulmonary nodules and mosaic attenuation can be detected by CT-scan however only histopathology can confirm the diagnosis detecting a multifocal hyperplasia of pulmonary neuroendocrine cells (carcinoid tumorlets). Ventilatory dysfunction can be obstructive and less often restrictive, mixed or non-specific. Symptoms can progress slowly but sometimes lead to respiratory failure. It is considered as a precursor for pulmonary carcinoid tumor. Orphanet ICD-10:J84.8 ICD-11:2F00.Y MedDRA:10082591 UMLS:C1333291 Adult Elderly Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia ORPHA:617916 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10082591 E (Exact mapping: the two concepts are equivalent) UMLS:C1333291 E (Exact mapping: the two concepts are equivalent) FACAS A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor&nbsp;(12&nbsp;(F-12)&nbsp;gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years. Orphanet ICD-10:L50.2 UMLS:C5681829 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617919 F12-associated cold autoinflammatory syndrome ORPHA:617919 ICD-10:L50.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681829 E (Exact mapping: the two concepts are equivalent) F9 deficiency, Leyden type Factor IX deficiency, Leyden type ICD-10:D67 ICD-11:3B11.Y MedDRA:10016077 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=617930 Hemophilia B Leyden Clinical subtype ORPHA:617930 ICD-10:D67 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B11.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10016077 E (Exact mapping: the two concepts are equivalent) Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. Orphanet ICD-10:C43.0 ICD-10:C43.1 ICD-10:C43.2 ICD-10:C43.3 ICD-10:C43.4 ICD-10:C43.5 ICD-10:C43.6 ICD-10:C43.7 ICD-10:C43.8 ICD-11:QC61.Y OMIM:155600 OMIM:155601 OMIM:155700 OMIM:608035 OMIM:609048 OMIM:613099 OMIM:613972 OMIM:615134 OMIM:615848 UMLS:C1512419 Autosomal dominant Multigenic/multifactorial Adult Europe AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=618 Familial melanoma ORPHA:618 ICD-10:C43.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:QC61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:155600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:155601 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:155700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608035 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609048 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613099 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613972 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615134 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615848 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1512419 E (Exact mapping: the two concepts are equivalent) Chronic neurovisceral ASMD NPD-A/B Niemann-Pick disease type A/B ICD-10:E75.2 UMLS:C5539139 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=618891 Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5539139 E (Exact mapping: the two concepts are equivalent) ASMD UMLS:C5243927 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=618899 Acid sphingomyelinase deficiency Clinical group ORPHA:618899 UMLS:C5243927 E (Exact mapping: the two concepts are equivalent) 3q29 AFURS1 ATPase family homolog up regulated in senescence cells Ensembl:ENSG00000133657 HGNC:24113 IUPHAR:3157 OMIM:610232 SwissProt:Q9H7F0 ATP13A3 ATPase 13A3 5q13.3 3-hydroxy-3-methylglutaryl CoA reductase (NADPH) hydroxymethylglutaryl-CoA reductase Ensembl:ENSG00000113161 HGNC:5006 IUPHAR:639 OMIM:142910 SwissProt:P04035 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase NON RARE IN EUROPE: Hypergonadotropic ovarian failure NON RARE IN EUROPE: Premature menopause NON RARE IN EUROPE: Premature ovarian failure NON RARE IN EUROPE: Premature ovarian insufficiency NON RARE IN EUROPE: Primary ovarian insufficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E28.3 MedDRA:10036601 NON RARE IN EUROPE: Primary ovarian failure ORPHA:619 ICD-10:E28.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10036601 E (Exact mapping: the two concepts are equivalent) Dias-Logan syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asympthomatic persistance of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be obsereved. Orphanet ICD-10:Q87.8 OMIM:617101 UMLS:C4310833 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome ORPHA:619233 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617101 E (Exact mapping: the two concepts are equivalent) UMLS:C4310833 E (Exact mapping: the two concepts are equivalent) UMLS:C5816810 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619238 Rare hereditary autoinflammatory disease Category ORPHA:619238 UMLS:C5816810 E (Exact mapping: the two concepts are equivalent) UMLS:C5681831 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619249 Rare hereditary connective tissue disease Category ORPHA:619249 UMLS:C5681831 E (Exact mapping: the two concepts are equivalent) Narcolepsy with or without cataplexy MeSH:D009290 MedDRA:10028713 UMLS:C0027404 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619284 Narcolepsy Clinical group ORPHA:619284 MeSH:D009290 E (Exact mapping: the two concepts are equivalent) MedDRA:10028713 E (Exact mapping: the two concepts are equivalent) UMLS:C0027404 E (Exact mapping: the two concepts are equivalent) UMLS:C5681832 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619340 Inherited hematologic cancer-predisposing syndrome Category ORPHA:619340 UMLS:C5681832 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:D56.4 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin ORPHA:619360 ICD-10:D56.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome ICD-10:D76.1 UMLS:C5680418 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619363 NOCARH syndrome ORPHA:619363 ICD-10:D76.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680418 E (Exact mapping: the two concepts are equivalent) SAMD9L-SAAD ICD-10:D89.8 UMLS:C5680414 Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619367 SAMD9L-associated autoinflammatory syndrome ORPHA:619367 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680414 E (Exact mapping: the two concepts are equivalent) Congenital neutropenia-CID due to MKL1 deficiency Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency MKL1-related neutrophil motility defect ICD-10:D71 OMIM:618847 UMLS:C5680413 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency ORPHA:619941 ICD-10:D71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618847 E (Exact mapping: the two concepts are equivalent) UMLS:C5680413 E (Exact mapping: the two concepts are equivalent) Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency SOCS1-related autoinflammatory syndrome A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy. Orphanet ICD-10:D84.8 OMIM:619375 UMLS:C5680416 Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency ORPHA:619948 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619375 E (Exact mapping: the two concepts are equivalent) UMLS:C5680416 E (Exact mapping: the two concepts are equivalent) HEM1 deficiency syndrome NCKAP1L-associated hyperinflammatory disorder A rare autoinflammatory syndrome with immune deficiency characterized by recurrent infections (bacterial and viral) due to <i>NCKAP1L</i> mutations. Patients are present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteremia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed. Orphanet ICD-10:D89.8 OMIM:618982 UMLS:C5680415 Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619953 Familial hyperinflammatory lymphoproliferative immunodeficiency ORPHA:619953 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618982 E (Exact mapping: the two concepts are equivalent) UMLS:C5680415 E (Exact mapping: the two concepts are equivalent) CARD11-associated atopy with dominant interference of NF-kB signaling syndrome A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. Orphanet ICD-10:D81.8 OMIM:617638 UMLS:C5680417 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619972 CADINS disease ORPHA:619972 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617638 E (Exact mapping: the two concepts are equivalent) UMLS:C5680417 E (Exact mapping: the two concepts are equivalent) A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. Orphanet ICD-10:E72.1 OMIM:617744 UMLS:C5681830 Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome ORPHA:619979 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617744 E (Exact mapping: the two concepts are equivalent) UMLS:C5681830 E (Exact mapping: the two concepts are equivalent) Alpha-sarcoglycan-related LGMD R3 Alpha-sarcoglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2D LGMD due to alpha-sarcoglycan deficiency LGMD type 2D LGMD2D Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2D A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. Orphanet ICD-10:G71.0 ICD-11:8C70.41 OMIM:608099 Autosomal recessive Adolescent Childhood United Kingdom AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 ORPHA:62 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608099 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Universal mesentery This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Common mesentery ORPHA:620 Isolated unisutural craniosynostosis Non-syndromic single suture synostosis UMLS:C5680403 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620096 Non-syndromic unisutural craniosynostosis Clinical group ORPHA:620096 UMLS:C5680403 E (Exact mapping: the two concepts are equivalent) Isolated frontal plagiocephaly Isolated unicoronal craniosynostosis Non-syndromic anterior synostotic plagiocephaly Non-syndromic frontoparietal craniosynostosis Non-syndromic hemicoronal craniosynostosis Non-syndromic unilateral coronal synostosis A form of non-syndromic unisutural craniosynostosis characterized by the premature fusion of one of the two coronal sutures of the newborn, leading to plagiocephaly with flattening of the ipsilateral side of the forehead and a compensatory bulging of the contralateral side. Ocular anomalies (strabismus, hypermetropia, astigmatism) due to orbital dystopia, and ocular torticollis, are commonly associated with in unicoronal craniosynostosis. Orphanet ICD-10:Q75.0 ICD-11:LB70.00 UMLS:C5680401 Neonatal Worldwide AND has_point_prevalence_average_value : 0.1049 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620102 Non-syndromic unicoronal craniosynostosis ORPHA:620102 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680401 E (Exact mapping: the two concepts are equivalent) Isolated occipital plagiocephaly Isolated unilamboid craniosynostosis Non-syndromic posterior synostotic plagiocephaly Non-syndromic unilateral lambdoid synostosis A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680402 Neonatal Worldwide AND has_point_prevalence_average_value : 0.0442 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620113 Non-syndromic unilambdoid craniosynostosis ORPHA:620113 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680402 E (Exact mapping: the two concepts are equivalent) Isolated unifrontosphenoidal craniosynostosis Isolated unilateral sphenofrontal suture synostosis Non-syndromic unilateral frontosphenoidal suture synostosis A form of non-syndromic unisutural craniosynostosis characterized by the premature fusion of the suture between the frontal and sphenoid bones of the newborn, leading to frontal flattening and asymmetry of the forehead with recession of the supraorbital rim on the fused side of the head. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680399 Neonatal Worldwide AND has_point_prevalence_average_value : 0.0136 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620139 Non-syndromic unifrontosphenoidal craniosynostosis ORPHA:620139 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680399 E (Exact mapping: the two concepts are equivalent) Isolated unisquamosal craniosynostosis Non-syndromic unilateral squamosal suture synostosis A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two squamosal sutures. Most cases of isolated unilateral squamosal craniosynostosis are normocephalic. The risk of increased intracranial pressure is low. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680400 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620146 Non-syndromic unisquamosal craniosynostosis ORPHA:620146 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680400 E (Exact mapping: the two concepts are equivalent) Isolated multisutural craniosynostosis Non-syndromic multiple suture synostosis UMLS:C5680397 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620152 Non-syndromic multisutural craniosynostosis Clinical group ORPHA:620152 UMLS:C5680397 E (Exact mapping: the two concepts are equivalent) Isolated non-specific multisutural craniosynostosis Non-syndromic non-specific multiple suture synostosis ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680398 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620158 Non-syndromic non-specific multisutural craniosynostosis ORPHA:620158 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680398 E (Exact mapping: the two concepts are equivalent) Isolated bilambdoid craniosynostosis Isolated pachycephaly Non-syndromic bilateral lambdoid synostosis A form of non-syndromic multisutural craniosynostosis characterized by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680395 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620178 Non-syndromic bilambdoid craniosynostosis ORPHA:620178 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680395 E (Exact mapping: the two concepts are equivalent) Isolated unicoronal and sagittal craniosynostosis Non-syndromic unilateral coronal and sagittal suture synostosis A form of non-syndromic multisutural craniosynostosis characterized by premature fusion of the unicoronal and sagittal sutures, resulting in anterior plagiocephaly with contralateral frontal bulging and elongated head shape (turricephaly). Orbital abnormality and strabismus are associated features. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680396 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620186 Non-syndromic unicoronal and sagittal craniosynostosis ORPHA:620186 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680396 E (Exact mapping: the two concepts are equivalent) Isolated metopic and sagittal craniosynostosis Non-syndromic metopic and sagittal suture synostosis A form of non-syndromic multisutural craniosynostosis characterized by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680393 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620192 Non-syndromic metopic and sagittal craniosynostosis ORPHA:620192 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680393 E (Exact mapping: the two concepts are equivalent) Isolated bicoronal and metopic craniosynostosis Non-syndromic bilateral coronal and metopic suture synostosis A form of non-syndromic multisutural craniosynostosis characterized by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680394 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620198 Non-syndromic bicoronal and metopic craniosynostosis ORPHA:620198 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680394 E (Exact mapping: the two concepts are equivalent) Isolated bicoronal and sagittal craniosynostosis Non-syndromic sagittal and bilateral coronal synostosis A form of non-syndromic multisutural craniosynostosis characterized by premature fusion of the bicoronal and sagittal sutures. Orphanet ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680391 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620205 Non-syndromic bicoronal and sagittal craniosynostosis ORPHA:620205 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680391 E (Exact mapping: the two concepts are equivalent) Isolated pansynostosis Non-syndromic synostosis of all cranial vault sutures ICD-10:Q75.0 ICD-11:LB70.0Y UMLS:C5680392 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620212 Non-syndromic pansynostosis ORPHA:620212 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB70.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680392 E (Exact mapping: the two concepts are equivalent) Bartter syndrome type I ICD-10:E26.8 ICD-11:GB90.43 MeSH:C537652 OMIM:601678 UMLS:C1866495 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620217 Bartter syndrome type 1 Clinical subtype ORPHA:620217 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.43 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537652 E (Exact mapping: the two concepts are equivalent) OMIM:601678 E (Exact mapping: the two concepts are equivalent) UMLS:C1866495 E (Exact mapping: the two concepts are equivalent) Bartter syndrome type II ICD-10:E26.8 ICD-11:GB90.43 MeSH:C537651 OMIM:241200 UMLS:C1855849 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620220 Bartter syndrome type 2 Clinical subtype ORPHA:620220 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.43 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537651 E (Exact mapping: the two concepts are equivalent) OMIM:241200 E (Exact mapping: the two concepts are equivalent) UMLS:C1855849 E (Exact mapping: the two concepts are equivalent) A rare renal tubular disease characterized by hypomagnesemia due to renal magnesium wasting, recurrent generalized seizures, mild to moderate intellectual disability, speech delay and obesity due to <i>CNNM2</i> mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies. Orphanet ICD-10:E83.4 OMIM:616418 UMLS:C5681826 Childhood Infancy Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616418 E (Exact mapping: the two concepts are equivalent) UMLS:C5681826 E (Exact mapping: the two concepts are equivalent) A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent. Orphanet ICD-10:E83.4 UMLS:C5681825 Childhood Infancy Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620368 EGF-related primary hypomagnesemia with intellectual disability ORPHA:620368 ICD-10:E83.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681825 E (Exact mapping: the two concepts are equivalent) Gitelman-like kidney tubulopathy due to mtDNA mutation ICD-10:E88.8 UMLS:C5680390 All ages Worldwide AND has_cases/families_value : 14.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680390 E (Exact mapping: the two concepts are equivalent) Autosomal recessive methemoglobinemia Congenital methemoglobinemia A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). Orphanet ICD-10:D74.0 ICD-11:3A92 MeSH:C580280 MedDRA:10010543 OMIM:250700 OMIM:250790 OMIM:250800 UMLS:C0272087 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=621 Hereditary methemoglobinemia ORPHA:621 ICD-10:D74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A92 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C580280 E (Exact mapping: the two concepts are equivalent) MedDRA:10010543 E (Exact mapping: the two concepts are equivalent) OMIM:250700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:250790 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:250800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0272087 E (Exact mapping: the two concepts are equivalent) FINCA Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. Orphanet ICD-10:G31.8 OMIM:618278 UMLS:C4748939 Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome ORPHA:621758 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618278 E (Exact mapping: the two concepts are equivalent) UMLS:C4748939 E (Exact mapping: the two concepts are equivalent) 10q25.3 DKFZp779F115 FLJ20147 FLJ25621 FLJ33312 MGC45492 Ensembl:ENSG00000196865 HGNC:24731 OMIM:618277 SwissProt:Q8NBF2 NHLRC2 NHL repeat containing 2 3p21.31 Ensembl:ENSG00000178035 HGNC:6053 IUPHAR:2625 OMIM:146691 SwissProt:P12268 IMPDH2 inosine monophosphate dehydrogenase 2 10q25.3 GDNFR GFR-ALPHA-1 RET1L RETL1 TRNR1 Ensembl:ENSG00000151892 HGNC:4243 IUPHAR:1743 OMIM:601496 SwissProt:P56159 GFRA1 GDNF family receptor alpha 1 Functional methionine synthase deficiency Methylcobalamin deficiency Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; <i>cblE, cblG</i> and <i>cblD-</i>variant 1 (<i>cblD</i>v1). Orphanet ICD-10:E72.1 ICD-11:5C50.B OMIM:236270 OMIM:250940 OMIM:277410 UMLS:C4303479 Autosomal recessive All ages Worldwide AND has_cases/families_value : 73.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=622 Homocystinuria without methylmalonic aciduria ORPHA:622 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:236270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:250940 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:277410 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4303479 E (Exact mapping: the two concepts are equivalent) 17p12 SWIM domain containing Srs2 interacting protein 1 SWS1 Ensembl:ENSG00000214941 HGNC:26993 OMIM:614535 SwissProt:Q19AV6 ZSWIM7 zinc finger SWIM-type containing 7 14q32.33 Ensembl:ENSG00000166170 HGNC:941 OMIM:603885 SwissProt:Q9UL15 BAG5 BAG cochaperone 5 11p15.4 DKFZp686J0796 FLJ32752 FLJ35709 FLJ46184 Ensembl:ENSG00000179532 HGNC:26532 OMIM:617277 SwissProt:Q96M86 DNHD1 dynein heavy chain domain 1 AE AIE https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=622014 Autoimmune encephalitis Clinical group ORPHA:622014 SMAS Wilkie syndrome ICD-10:K31.5 ICD-11:DA52.Y MeSH:D013478 MedDRA:10054156 UMLS:C0038828 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=622099 Superior mesenteric artery syndrome ORPHA:622099 ICD-10:K31.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA52.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013478 E (Exact mapping: the two concepts are equivalent) MedDRA:10054156 E (Exact mapping: the two concepts are equivalent) UMLS:C0038828 E (Exact mapping: the two concepts are equivalent) UMLS:C5681827 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=622720 Genetic autoinflammatory syndrome with skin involvement Category ORPHA:622720 UMLS:C5681827 E (Exact mapping: the two concepts are equivalent) UMLS:C5681828 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=622914 Rare genetic nevus Category ORPHA:622914 UMLS:C5681828 E (Exact mapping: the two concepts are equivalent) Meester-Loeys syndrome X-linked severe syndromic TAAD ICD-10:I71.1 OMIM:300989 UMLS:C4310811 Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=622925 X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925 ICD-10:I71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300989 E (Exact mapping: the two concepts are equivalent) UMLS:C4310811 E (Exact mapping: the two concepts are equivalent) SBDS-related severe neonatal SMD Spondylometaphyseal dysplasia, Sedaghatian-like type ICD-10:Q77.7 ICD-11:LD24.4 UMLS:C5680412 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=622934 SBDS-related severe neonatal spondylometaphyseal dysplasia ORPHA:622934 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680412 E (Exact mapping: the two concepts are equivalent) Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Carney complex NAME syndrome ORPHA:623 ALE A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid. Orphanet ICD-10:G04.8 ICD-11:8E4A.0 MeSH:C531729 UMLS:C2930824 All ages Europe AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=623615 Autoimmune limbic encephalitis ORPHA:623615 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C531729 E (Exact mapping: the two concepts are equivalent) UMLS:C2930824 E (Exact mapping: the two concepts are equivalent) PCD Paraneoplastic cerebellar ataxia Rapidely progressive cerebellar syndrome Subacute cerebellar degeneration ICD-10:G31.8 ICD-11:8E4A.0 MeSH:D020362 UMLS:C0393534 All ages Europe AND has_annual_incidence_average_value : 0.2225 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.9553 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.6869 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.285 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.2236 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=623626 Paraneoplastic cerebellar degeneration ORPHA:623626 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020362 E (Exact mapping: the two concepts are equivalent) UMLS:C0393534 E (Exact mapping: the two concepts are equivalent) Autoimmune cerebellitis IMCA UMLS:C5680410 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=623638 Immune-mediated cerebellar ataxia Clinical group ORPHA:623638 UMLS:C5680410 E (Exact mapping: the two concepts are equivalent) MIR140-related SED Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses ICD-10:Q77.7 ICD-11:LD24.3 OMIM:618618 UMLS:C5680411 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=623695 MIR140-related spondyloepiphyseal dysplasia ORPHA:623695 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618618 E (Exact mapping: the two concepts are equivalent) UMLS:C5680411 E (Exact mapping: the two concepts are equivalent) BID BIID Body integrity identity disorder ICD-10:F45.2 ICD-11:6C21 UMLS:C4546282 Adolescent Childhood Worldwide AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=623789 Body integrity dysphoria ORPHA:623789 ICD-10:F45.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6C21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4546282 E (Exact mapping: the two concepts are equivalent) ICD-10:G04.8 MeSH:C000629404 MedDRA:10082097 UMLS:C4290000 Adolescent Adult Childhood Infancy Australia AND has_annual_incidence_average_value : 1.12 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=623801 Acute flaccid myelitis ORPHA:623801 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C000629404 E (Exact mapping: the two concepts are equivalent) MedDRA:10082097 E (Exact mapping: the two concepts are equivalent) UMLS:C4290000 E (Exact mapping: the two concepts are equivalent) Familial multiple port-wine stains Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. Orphanet ICD-10:Q82.5 ICD-11:LC50 MeSH:C535816 MedDRA:10067193 OMIM:163000 UMLS:C2931029 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624 Familial multiple nevi flammei ORPHA:624 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535816 E (Exact mapping: the two concepts are equivalent) MedDRA:10067193 E (Exact mapping: the two concepts are equivalent) OMIM:163000 E (Exact mapping: the two concepts are equivalent) UMLS:C2931029 E (Exact mapping: the two concepts are equivalent) Non-specific supratentorial AE with characteristic antibodies ICD-10:G04.8 UMLS:C5680408 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies ORPHA:624166 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680408 E (Exact mapping: the two concepts are equivalent) Non-specific supratentorial AE without characteristic antibodies ICD-10:G04.8 UMLS:C5680409 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies ORPHA:624178 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680409 E (Exact mapping: the two concepts are equivalent) Paraneoplastic isolated rhombencephalitis Paraneoplastic isolated rhomboencephalitis ICD-10:G04.8 ICD-11:8E4A.0 UMLS:C5680406 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624190 Paraneoplastic isolated brainstem encephalitis ORPHA:624190 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680406 E (Exact mapping: the two concepts are equivalent) Non-specific autoimmune rhombencephalitis with characteristic antibodies Non-specific autoimmune rhomboencephalitis with characteristic antibodies ICD-10:G04.8 UMLS:C5680405 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies ORPHA:624199 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680405 E (Exact mapping: the two concepts are equivalent) Non-specific autoimmune rhombencephalitis without characteristic antibodies Non-specific autoimmune rhomboencephalitis without characteristic antibodies ICD-10:G04.8 UMLS:C5680407 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies ORPHA:624216 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680407 E (Exact mapping: the two concepts are equivalent) ACA APCA Acute cerebellar ataxia Acute postinfectious cerebellar ataxia PIC Para-infectious cerebellitis ICD-10:G31.8 UMLS:C5575321 All ages Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624244 Postinfectious cerebellitis ORPHA:624244 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5575321 E (Exact mapping: the two concepts are equivalent) Non-specific autoimmune CA with characteristic antibodies ICD-10:G31.8 UMLS:C5680404 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies ORPHA:624259 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680404 E (Exact mapping: the two concepts are equivalent) Non-specific autoimmune CA without characteristic antibodies PACA Primary Autoimmune Cerebellar Ataxia ICD-10:G31.8 UMLS:C5576703 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies ORPHA:624268 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5576703 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Clark nevus NON RARE IN EUROPE: Dysplastic nevus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Atypical mole ORPHA:625 LGCMN Large/giant CMN syndrome Large/giant congenital pigmented nevus A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system. Orphanet ICD-10:D22.9 ICD-11:2F20.20 MedDRA:10072036 OMIM:137550 UMLS:C1842036 Multigenic/multifactorial Infancy Neonatal Europe AND has_point_prevalence_average_value : 2.75 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=626 Large/giant congenital melanocytic nevus ORPHA:626 ICD-10:D22.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F20.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10072036 E (Exact mapping: the two concepts are equivalent) OMIM:137550 E (Exact mapping: the two concepts are equivalent) UMLS:C1842036 E (Exact mapping: the two concepts are equivalent) UMLS:C5816777 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=626609 Rare andrological tumor Category ORPHA:626609 UMLS:C5816777 E (Exact mapping: the two concepts are equivalent) Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C538336 OMIM:302350 UMLS:C0796085 X-linked dominant Neonatal Worldwide AND has_cases/families_value : 196.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=627 Nance-Horan syndrome ORPHA:627 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538336 E (Exact mapping: the two concepts are equivalent) OMIM:302350 E (Exact mapping: the two concepts are equivalent) UMLS:C0796085 E (Exact mapping: the two concepts are equivalent) Diastrophic dwarfism A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). Orphanet ICD-10:Q77.5 ICD-11:LD24.03 MeSH:C536170 MedDRA:10081228 OMIM:222600 UMLS:C0220726 Autosomal recessive Neonatal Europe AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 3.03 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=628 Diastrophic dysplasia ORPHA:628 ICD-10:Q77.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536170 E (Exact mapping: the two concepts are equivalent) MedDRA:10081228 E (Exact mapping: the two concepts are equivalent) OMIM:222600 E (Exact mapping: the two concepts are equivalent) UMLS:C0220726 E (Exact mapping: the two concepts are equivalent) 3p13 FLJ10539 Shq1p Ensembl:ENSG00000144736 HGNC:25543 OMIM:613663 SwissProt:Q6PI26 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor 7p12.1 Ensembl:ENSG00000106070 HGNC:4564 OMIM:601523 SwissProt:Q13322 GRB10 growth factor receptor bound protein 10 3q25.31 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 DKFZp434C1372 KIAA1069 MGC117152 PLCeta1 Ensembl:ENSG00000114805 HGNC:29185 IUPHAR:1414 OMIM:612835 SwissProt:Q4KWH8 PLCH1 phospholipase C eta 1 7q22.1 CDC47 PPP1R104 protein phosphatase 1, regulatory subunit 104 Ensembl:ENSG00000166508 HGNC:6950 OMIM:600592 SwissProt:P33993 MCM7 minichromosome maintenance complex component 7 21q22.11 Ensembl:ENSG00000156299 HGNC:11805 OMIM:600687 SwissProt:Q13009 TIAM1 TIAM Rac1 associated GEF 1 12q13.12 small GTP binding protein Ensembl:ENSG00000134287 HGNC:654 OMIM:103190 SwissProt:P61204 ARF3 ADP ribosylation factor 3 12q21.33 PMCA1 plasma membrane calcium-transporting ATPase 1 Ensembl:ENSG00000070961 HGNC:814 IUPHAR:843 OMIM:108731 SwissProt:P20020 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 3p21.31 G17 SN1 SNAT3 Sodium-coupled neutral amino acid transporter 3 Ensembl:ENSG00000188338 HGNC:18044 IUPHAR:1172 OMIM:604437 SwissProt:Q99624 SLC38A3 solute carrier family 38 member 3 3q29 PAK65 PAKgamma S6/H4 kinase Ensembl:ENSG00000180370 HGNC:8591 IUPHAR:2134 OMIM:605022 SwissProt:Q13177 PAK2 p21 (RAC1) activated kinase 2 6p21.1 MINION microprotein inducer of fusion myomerger Ensembl:ENSG00000262179 HGNC:52391 OMIM:619912 SwissProt:A0A1B0GTQ4 MYMX myomixer, myoblast fusion factor 8q21.13 myo-inositol monophosphatase 1 Ensembl:ENSG00000133731 HGNC:6050 IUPHAR:1463 OMIM:602064 SwissProt:P29218 IMPA1 inositol monophosphatase 1 1p36.11 DKFZP564D0478 Ensembl:ENSG00000186501 HGNC:25363 OMIM:619469 SwissProt:Q9H0R3 TMEM222 transmembrane protein 222 9q34.3 Ensembl:ENSG00000107331 HGNC:32 IUPHAR:757 OMIM:600047 SwissProt:Q9BZC7 ABCA2 ATP binding cassette subfamily A member 2 Xp11.23 DKFZp761A052 DUBA deubiquitinase A Ensembl:ENSG00000068308 HGNC:25402 OMIM:300713 SwissProt:Q96G74 OTUD5 OTU deubiquitinase 5 2p13.1 MGC22014 hCG_40738 ten-eleven translocation 3 Ensembl:ENSG00000187605 HGNC:28313 OMIM:613555 SwissProt:O43151 TET3 tet methylcytosine dioxygenase 3 16q12.1 hSIAH1 Ensembl:ENSG00000196470 HGNC:10857 OMIM:602212 SwissProt:Q8IUQ4 SIAH1 siah E3 ubiquitin protein ligase 1 17q25.3 Ensembl:ENSG00000169750 HGNC:9803 OMIM:602050 SwissProt:P60763 RAC3 Rac family small GTPase 3 16p13.3 Ensembl:ENSG00000103326 HGNC:11182 OMIM:603267 SwissProt:O75808 CAPN15 calpain 15 Kowarski syndrome Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the <i>GH1</i> gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. Orphanet ICD-10:E23.0 ICD-11:5A61.0 MeSH:C537505 OMIM:262650 UMLS:C1849779 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=629 Short stature due to growth hormone qualitative anomaly Clinical subtype ORPHA:629 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537505 E (Exact mapping: the two concepts are equivalent) OMIM:262650 E (Exact mapping: the two concepts are equivalent) UMLS:C1849779 E (Exact mapping: the two concepts are equivalent) 6q22.31 NY-BR-15 bA57K17.2 Ensembl:ENSG00000111860 HGNC:21638 OMIM:618865 SwissProt:Q5SZL2 CEP85L centrosomal protein 85 like 8p21.3 CSGalNAcT-1 ChGn FLJ11264 chondroitin beta1,4 N-acetylgalactosaminyltransferase glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase Ensembl:ENSG00000147408 HGNC:24290 OMIM:616615 SwissProt:Q8TDX6 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 12q23.1 CVAK104 KIAA1360 coated vesicle-associated kinase of 104 kDa Ensembl:ENSG00000136021 HGNC:19286 IUPHAR:2196 OMIM:616365 SwissProt:Q6P3W7 SCYL2 SCY1 like pseudokinase 2 Xq28 9F DNA segment on chromosome X (unique) 9928 expressed sequence DXS9928E HXC-26 XAP5 Ensembl:ENSG00000071859 HGNC:18786 OMIM:300453 SwissProt:Q14320 FAM50A family with sequence similarity 50 member A 13q12.11 FIM MYM RAMP Ensembl:ENSG00000121741 HGNC:12989 OMIM:602221 SwissProt:Q9UBW7 ZMYM2 zinc finger MYM-type containing 2 1p31.1 PKA C-beta PKACb cAMP-dependent protein kinase catalytic subunit beta Ensembl:ENSG00000142875 HGNC:9381 IUPHAR:1477 OMIM:176892 SwissProt:P22694 PRKACB protein kinase cAMP-activated catalytic subunit beta 17p13.1 EIF-5A EIF5A1 MGC104255 MGC99547 Ensembl:ENSG00000132507 HGNC:3300 OMIM:600187 SwissProt:P63241 EIF5A eukaryotic translation initiation factor 5A 1q25.3 Ensembl:ENSG00000116406 HGNC:16787 OMIM:610214 SwissProt:Q9BZQ6 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 12p11.21 IMP8 Ensembl:ENSG00000133704 HGNC:9853 OMIM:605600 SwissProt:O15397 IPO8 importin 8 19p13.2 FLJ38144 hang Ensembl:ENSG00000196110 HGNC:24750 OMIM:609571 SwissProt:Q32M78 ZNF699 zinc finger protein 699 19q13.2 FinGER8 Ensembl:ENSG00000167645 HGNC:30511 OMIM:619109 SwissProt:Q5BJH7 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein 13q31.1 RDC-1 Ensembl:ENSG00000152192 HGNC:9218 OMIM:601632 SwissProt:Q01851 POU4F1 POU class 4 homeobox 1 14q21.2 Crescerin-1 crescerin Ensembl:ENSG00000198718 HGNC:19959 OMIM:617618 SwissProt:Q9Y4F4 TOGARAM1 TOG array regulator of axonemal microtubules 1 5q33.2 Ensembl:ENSG00000082516 HGNC:20043 OMIM:607005 SwissProt:Q8TEQ6 GEMIN5 gem nuclear organelle associated protein 5 11q24.2 Ensembl:ENSG00000150433 HGNC:27344 OMIM:619285 SwissProt:A2RU14 TMEM218 transmembrane protein 218 5q31.3 PCDH-GAMMA-C4 Ensembl:ENSG00000242419 HGNC:8717 OMIM:606305 SwissProt:Q9Y5F7 PCDHGC4 protocadherin gamma subfamily C, 4 Alport deafness-nephropathy Alport hearing loss-nephropathy A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:D009394 MedDRA:10001843 OMIM:104200 OMIM:203780 OMIM:301050 UMLS:C1567741 Autosomal dominant Autosomal recessive X-linked dominant Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_range : Unknown Finland AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63 Alport syndrome ORPHA:63 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009394 E (Exact mapping: the two concepts are equivalent) MedDRA:10001843 E (Exact mapping: the two concepts are equivalent) OMIM:104200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:203780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301050 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1567741 E (Exact mapping: the two concepts are equivalent) 2p13.3 FLJ25084 SASPase Skin ASpartic Protease Taps Ensembl:ENSG00000244617 HGNC:26321 OMIM:611765 SwissProt:Q53RT3 ASPRV1 aspartic peptidase retroviral like 1 2p25.1 CPSF-73 CPSF73 YSH1 Ensembl:ENSG00000119203 HGNC:2326 OMIM:606029 SwissProt:Q9UKF6 CPSF3 cleavage and polyadenylation specific factor 3 Congenital IGHD Congenital isolated GH deficiency Congenital isolated growth hormone deficiency A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature. Orphanet ICD-10:E23.0 ICD-11:5A61.0 MedDRA:10035083 OMIM:173100 OMIM:262400 OMIM:262650 OMIM:300123 OMIM:307200 OMIM:612781 UMLS:C5679572 Autosomal dominant Autosomal recessive X-linked recessive Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631 Non-acquired isolated growth hormone deficiency ORPHA:631 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10035083 E (Exact mapping: the two concepts are equivalent) OMIM:173100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:262400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:262650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300123 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:307200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612781 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679572 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8B44.00 OMIM:618418 UMLS:C5193084 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631068 Autosomal dominant spastic paraplegia type 80 ORPHA:631068 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618418 E (Exact mapping: the two concepts are equivalent) UMLS:C5193084 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8B44.01 OMIM:618770 UMLS:C5394037 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631073 Autosomal recessive spastic paraplegia type 82 ORPHA:631073 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618770 E (Exact mapping: the two concepts are equivalent) UMLS:C5394037 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8B44.01 OMIM:619027 UMLS:C5436637 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631076 Autosomal recessive spastic paraplegia type 83 ORPHA:631076 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619027 E (Exact mapping: the two concepts are equivalent) UMLS:C5436637 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8B44.01 OMIM:619621 UMLS:C5562025 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631079 Autosomal recessive spastic paraplegia type 84 ORPHA:631079 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619621 E (Exact mapping: the two concepts are equivalent) UMLS:C5562025 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8B44.01 OMIM:619686 UMLS:C5562053 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631082 Autosomal recessive spastic paraplegia type 85 ORPHA:631082 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619686 E (Exact mapping: the two concepts are equivalent) UMLS:C5562053 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8B44.01 OMIM:619735 UMLS:C5676910 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631085 Autosomal recessive spastic paraplegia type 86 ORPHA:631085 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619735 E (Exact mapping: the two concepts are equivalent) UMLS:C5676910 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8B44.01 UMLS:C5774182 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631088 Autosomal recessive spastic paraplegia type 87 ORPHA:631088 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5774182 E (Exact mapping: the two concepts are equivalent) 6p21.33 D6S82E NG26 Phosphatidylserine lipase ABHD16A Ensembl:ENSG00000204427 HGNC:13921 OMIM:142620 SwissProt:O95870 ABHD16A abhydrolase domain containing 16A, phospholipase 14q24.3 CSC1 DKFZp434P0111 calcium permeable stress-gated cation channel 1 homolog (Arabidopsis) hsCSC1 Ensembl:ENSG00000165548 HGNC:23787 OMIM:619953 SwissProt:Q9P1W3 TMEM63C transmembrane protein 63C ICD-10:G11.4 ICD-11:8A03.16 OMIM:617691 UMLS:C4521563 Autosomal dominant Adult Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631095 Spinocerebellar ataxia type 44 ORPHA:631095 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617691 E (Exact mapping: the two concepts are equivalent) UMLS:C4521563 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8A03.16 OMIM:618093 UMLS:C4748158 Autosomal dominant Adult Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631103 Spinocerebellar ataxia type 48 ORPHA:631103 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618093 E (Exact mapping: the two concepts are equivalent) UMLS:C4748158 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.4 ICD-11:8A03.16 OMIM:619806 UMLS:C5676950 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631106 Spinocerebellar ataxia type 49 ORPHA:631106 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619806 E (Exact mapping: the two concepts are equivalent) UMLS:C5676950 E (Exact mapping: the two concepts are equivalent) A rare genetic neurological disorder characterized by childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in a waxing and waning course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. Orphanet ICD-10:G60.8 OMIM:618960 UMLS:C5394554 Autosomal dominant Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631248 Mitchell Syndrome ORPHA:631248 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618960 E (Exact mapping: the two concepts are equivalent) UMLS:C5394554 E (Exact mapping: the two concepts are equivalent) CUP Carcinoma of unknown primary Carcinoma of unknown primary origin Metastases without primary tumor ICD-10:C80.0 UMLS:C0027667 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=631251 Cancer of unknown primary site ORPHA:631251 ICD-10:C80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0027667 E (Exact mapping: the two concepts are equivalent) 15q24.3-q25.1 KIAA1055 Ensembl:ENSG00000167202 HGNC:29183 OMIM:619152 SwissProt:Q9UPU7 TBC1D2B TBC1 domain family member 2B 12q13.12 CYK4 MgcRacGAP Ensembl:ENSG00000161800 HGNC:9804 OMIM:604980 SwissProt:Q9H0H5 RACGAP1 Rac GTPase activating protein 1 2q11.1 MVP17 VIP17 myelin and lymphocyte protein Ensembl:ENSG00000172005 HGNC:6817 OMIM:188860 SwissProt:P21145 MAL mal, T cell differentiation protein 20q13.2 ATPIIA KIAA0611 Ensembl:ENSG00000054793 HGNC:13540 IUPHAR:860 OMIM:609126 SwissProt:O75110 ATP9A ATPase phospholipid transporting 9A (putative) 11q13.2 CKI Ensembl:ENSG00000110721 HGNC:1937 OMIM:118491 SwissProt:P35790 CHKA choline kinase alpha 19p13.3 MGC4293 Ensembl:ENSG00000129932 HGNC:28662 OMIM:611262 SwissProt:Q9BU89 DOHH deoxyhypusine hydroxylase 19p13.12 CIRL1 KIAA0821 LEC2 calcium-independent alpha-latrotoxin receptor 1 Ensembl:ENSG00000072071 HGNC:20973 IUPHAR:206 OMIM:616416 SwissProt:O94910 ADGRL1 adhesion G protein-coupled receptor L1 11p14.1 L15 NY-REN-41 RAMA3 Ensembl:ENSG00000109881 HGNC:25079 OMIM:612324 SwissProt:Q96HJ3 CCDC34 coiled-coil domain containing 34 ICD-10:E23.0 ICD-11:4A01.00 OMIM:307200 UMLS:C0472813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Clinical subtype ORPHA:632 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:307200 E (Exact mapping: the two concepts are equivalent) UMLS:C0472813 E (Exact mapping: the two concepts are equivalent) 1p36.33 FLJ45476 Ensembl:ENSG00000142609 HGNC:29368 OMIM:620187 SwissProt:Q9C0B2 CFAP74 cilia and flagella associated protein 74 Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system. Orphanet ICD-10:Q00.2 ICD-11:LA00.1 MedDRA:10022034 UMLS:C0152234 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63259 Iniencephaly ORPHA:63259 ICD-10:Q00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA00.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10022034 E (Exact mapping: the two concepts are equivalent) UMLS:C0152234 E (Exact mapping: the two concepts are equivalent) Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. Orphanet ICD-10:Q00.1 ICD-11:LA00.00 MedDRA:10011321 UMLS:C0152426 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63260 Craniorachischisis ORPHA:63260 ICD-10:Q00.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA00.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10011321 E (Exact mapping: the two concepts are equivalent) UMLS:C0152426 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 OMIM:619297 UMLS:C5543317 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619297 E (Exact mapping: the two concepts are equivalent) UMLS:C5543317 E (Exact mapping: the two concepts are equivalent) Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HERNS syndrome ORPHA:63261 Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome ICD-10:Q87.8 ICD-11:LD24.GY OMIM:201750 UMLS:C3150099 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Clinical subtype ORPHA:63269 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:201750 E (Exact mapping: the two concepts are equivalent) UMLS:C3150099 E (Exact mapping: the two concepts are equivalent) Distal ABD-filaminopathy Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Orphanet ICD-10:G71.0 ICD-11:8C75 OMIM:614065 UMLS:C4518807 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63273 Distal myopathy with posterior leg and anterior hand involvement ORPHA:63273 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614065 E (Exact mapping: the two concepts are equivalent) UMLS:C4518807 E (Exact mapping: the two concepts are equivalent) Gestational pemphigoid A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruption, affecting pregnant women typically during the second and third trimester. Orphanet ICD-10:L12.8 ICD-11:JA65.10 MeSH:D006559 MedDRA:10019939 UMLS:C0019343 Adolescent Adult France AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.693 AND has_point_prevalence_range : 1-9 / 1 000 000 Kuwait AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63275 Pemphigoid gestationis ORPHA:63275 ICD-10:L12.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:JA65.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006559 E (Exact mapping: the two concepts are equivalent) MedDRA:10019939 E (Exact mapping: the two concepts are equivalent) UMLS:C0019343 E (Exact mapping: the two concepts are equivalent) Complete growth hormone insensitivity GH receptor deficiency Growth hormone receptor deficiency Laron-type dwarfism Primary GH insensitivity Primary GH resistance Primary growth hormone insensitivity Primary growth hormone resistance Short stature due to growth hormone resistance Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. Orphanet ICD-10:E34.3 ICD-11:5A61.0 MeSH:D046150 MedDRA:10075492 OMIM:262500 UMLS:C0271568 Autosomal recessive Infancy Neonatal China AND has_point_prevalence_average_value : 4.86 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633 Laron syndrome ORPHA:633 ICD-10:E34.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D046150 E (Exact mapping: the two concepts are equivalent) MedDRA:10075492 E (Exact mapping: the two concepts are equivalent) OMIM:262500 E (Exact mapping: the two concepts are equivalent) UMLS:C0271568 E (Exact mapping: the two concepts are equivalent) Diets-Jongmans Syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominant nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to <i>KDM3B</i> mutations. Neonatal feeding difficulties, childhood hypotonia, and behaviour problems were also reported in some patients. Orphanet ICD-10:Q87.8 OMIM:618846 UMLS:C5394263 Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome ORPHA:633004 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618846 E (Exact mapping: the two concepts are equivalent) UMLS:C5394263 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD90.Y OMIM:619080 OMIM:619083 UMLS:C5816806 Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633014 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619080 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619083 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5816806 E (Exact mapping: the two concepts are equivalent) Kilquist syndrome ICD-10:Q87.8 ICD-11:LD90.Y OMIM:619080 UMLS:C5816804 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome Clinical subtype ORPHA:633021 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619080 E (Exact mapping: the two concepts are equivalent) UMLS:C5816804 E (Exact mapping: the two concepts are equivalent) Delpire-McNeill syndrome ICD-10:Q87.8 ICD-11:LD90.Y OMIM:619083 UMLS:C5816805 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome Clinical subtype ORPHA:633024 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619083 E (Exact mapping: the two concepts are equivalent) UMLS:C5816805 E (Exact mapping: the two concepts are equivalent) BDV syndrome Blakemore-Durmaz-Vasileiou syndrome A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Orphanet ICD-10:Q87.8 Childhood Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633028 CPE-related Prader-Willi-like syndrome ORPHA:633028 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Baralle-Macken syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia. Orphanet ICD-10:Q87.8 OMIM:619255 UMLS:C5543241 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633035 Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619255 E (Exact mapping: the two concepts are equivalent) UMLS:C5543241 E (Exact mapping: the two concepts are equivalent) Split cord malformation type 1.5 Split cord malformation, intermediate type Split cord malformation, mixed type ICD-10:Q06.2 ICD-11:LA07.1 UMLS:C5816809 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633076 Split cord malformation, composite type ORPHA:633076 ICD-10:Q06.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA07.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816809 E (Exact mapping: the two concepts are equivalent) Phosphoribosylaminoimidazole carboxylase deficiency ICD-10:E79.8 OMIM:619859 UMLS:C1291561 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633099 PAICS deficiency ORPHA:633099 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619859 E (Exact mapping: the two concepts are equivalent) UMLS:C1291561 E (Exact mapping: the two concepts are equivalent) A rare mycosis characterized by disseminated or localized deep tissue infections due to invasive scopulariopsis (that are commonly responsible for non-invasive infections) infection in both immunocompetent and immunosuppressed patients (mostly treated with high dose chemotherapy and/or received a stem cell transplantation). Clinical features may include endocarditis, brain abscess, cutaneous infections, pulmonary infections, endophthalmitis, invasive sinusitis and peritonitis that are often life threatening. Orphanet ICD-10:B48.7 UMLS:C5816808 Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633124 Invasive scopulariopsis infection ORPHA:633124 ICD-10:B48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816808 E (Exact mapping: the two concepts are equivalent) 11p15.2 Ensembl:ENSG00000129083 HGNC:2231 OMIM:600959 SwissProt:P53618 COPB1 COPI coat complex subunit beta 1 4q32.3 carboxypeptidase H cobalt-stimulated chromaffin granule carboxypeptidase enkephalin convertase insulin granule-associated carboxypeptidase Ensembl:ENSG00000109472 HGNC:2303 IUPHAR:1595 OMIM:114855 SwissProt:P16870 CPE carboxypeptidase E Preaxial brachydactyly, PAX3 type ICD-10:Q73.8 UMLS:C5816807 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633211 Preaxial digit brachydactyly-webbed fingers ORPHA:633211 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816807 E (Exact mapping: the two concepts are equivalent) CPFD Isolated congenital proximal femoral deficiency PFFD ICD-10:Q74.8 UMLS:C0431996 Neonatal Worldwide AND has_birth_prevalence_average_value : 1.55 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.55 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=633228 Isolated proximal femoral focal deficiency ORPHA:633228 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0431996 E (Exact mapping: the two concepts are equivalent) Bamboo hair syndrome Comèl-Netherton syndrome NS Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. Orphanet ICD-10:Q80.8 ICD-11:LD27.2 MeSH:D056770 MedDRA:10062909 OMIM:256500 UMLS:C5574950 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=634 Netherton syndrome ORPHA:634 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056770 E (Exact mapping: the two concepts are equivalent) MedDRA:10062909 E (Exact mapping: the two concepts are equivalent) OMIM:256500 E (Exact mapping: the two concepts are equivalent) UMLS:C5574950 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Acrocephaly OBSOLETE: Hypsicephaly OBSOLETE: Hypsocephaly OBSOLETE: Pyrgocephaly OBSOLETE: Turricephaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic craniosynostosis OBSOLETE: Isolated oxycephaly ORPHA:63440 ASPED A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. Orphanet ICD-10:Q78.8 ICD-11:LD24.8Y MeSH:C536361 MedDRA:10066017 OMIM:105835 UMLS:C1739384 Autosomal dominant All ages Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63442 Angel-shaped phalango-epiphyseal dysplasia ORPHA:63442 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536361 E (Exact mapping: the two concepts are equivalent) MedDRA:10066017 E (Exact mapping: the two concepts are equivalent) OMIM:105835 E (Exact mapping: the two concepts are equivalent) UMLS:C1739384 E (Exact mapping: the two concepts are equivalent) Rare gastric epithelial tumor MedDRA:10017758 UMLS:C5680118 Multigenic/multifactorial Not applicable Adult Europe AND has_annual_incidence_average_value : 18.6 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_lifetime_prevalence_average_value : 49.17 AND has_lifetime_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 11.2 AND has_annual_incidence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 3.9 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 7.5 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 24.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63443 Rare epithelial tumor of stomach Category ORPHA:63443 MedDRA:10017758 E (Exact mapping: the two concepts are equivalent) UMLS:C5680118 E (Exact mapping: the two concepts are equivalent) A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Orphanet ICD-10:Q78.8 ICD-11:LD24.8Y MeSH:C564334 OMIM:607778 UMLS:C1843096 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63446 Acrocapitofemoral dysplasia ORPHA:63446 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564334 E (Exact mapping: the two concepts are equivalent) OMIM:607778 E (Exact mapping: the two concepts are equivalent) UMLS:C1843096 E (Exact mapping: the two concepts are equivalent) MNF1 Mosaic NF1 A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple café-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. Orphanet ICD-10:Q85.0 ICD-11:LD2D.1Y UMLS:C5782097 Infancy Neonatal Finland AND has_point_prevalence_average_value : 24.4618 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=634461 Mosaic neurofibromatosis type 1 ORPHA:634461 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5782097 E (Exact mapping: the two concepts are equivalent) MNF2 Mosaic NF2 Mosaic neurofibromatosis type 2 A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. Orphanet ICD-10:Q85.0 UMLS:C5816778 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=634475 Mosaic NF2-related schwannomatosis ORPHA:634475 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816778 E (Exact mapping: the two concepts are equivalent) MNF3 Mosaic SWN Mosaic neurilemmomatosis Mosaic neurofibromatosis type 3 A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis. Orphanet ICD-10:Q85.0 UMLS:C5816779 Infancy Neonatal United Kingdom AND has_birth_prevalence_average_value : 1.4502 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.7928 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=634492 Mosaic schwannomatosis ORPHA:634492 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816779 E (Exact mapping: the two concepts are equivalent) Mosaic NF1-like syndrome Mosaic neurofibromatosis 1-like syndrome A rare mosaic form of Legius syndrome characterized by findings typical of Legius syndrome, namely multiple café-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicsm and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome. Orphanet ICD-10:Q85.0 ICD-11:LD27.Y UMLS:C5816780 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=634511 Mosaic Legius syndrome ORPHA:634511 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816780 E (Exact mapping: the two concepts are equivalent) NF/SWN UMLS:C5816781 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=634518 Neurofibromatosis/schwannomatosis Category ORPHA:634518 UMLS:C5816781 E (Exact mapping: the two concepts are equivalent) Patterned dystrophy of the retinal pigment epithelium MeSH:C536309 UMLS:C1868569 Autosomal dominant Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63454 Pattern dystrophy Category ORPHA:63454 MeSH:C536309 E (Exact mapping: the two concepts are equivalent) UMLS:C1868569 E (Exact mapping: the two concepts are equivalent) A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia. Orphanet ICD-10:L10.8 ICD-11:EB40.2 MedDRA:10057056 UMLS:C1112570 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63455 Paraneoplastic pemphigus ORPHA:63455 ICD-10:L10.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB40.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10057056 E (Exact mapping: the two concepts are equivalent) UMLS:C1112570 E (Exact mapping: the two concepts are equivalent) Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children. Orphanet ICD-10:C74.9 ICD-11:2A00.11 ICD-11:XH85Z0 MeSH:D009447 MedDRA:10029260 OMIM:256700 OMIM:613013 OMIM:613014 OMIM:613015 OMIM:613016 OMIM:613017 OMIM:616792 UMLS:C0027819 Not applicable Childhood Europe AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 1.26 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=635 Neuroblastoma ORPHA:635 ICD-10:C74.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2A00.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH85Z0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009447 E (Exact mapping: the two concepts are equivalent) MedDRA:10029260 E (Exact mapping: the two concepts are equivalent) OMIM:256700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613013 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613014 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613015 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613016 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613017 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616792 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0027819 E (Exact mapping: the two concepts are equivalent) Nonmosaic NF1 Nonmosaic neurofibromatosis type 1 Von Recklinghausen disease Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. Orphanet ICD-10:Q85.0 ICD-11:LD2D.10 MeSH:D009456 MedDRA:10029270 OMIM:162200 OMIM:162210 OMIM:613675 UMLS:C0027831 Autosomal dominant Infancy Neonatal Canada AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 21.3 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 24.46 AND has_point_prevalence_range : 1-5 / 10 000 New Zealand AND has_point_prevalence_average_value : 47.5 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 36.9 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 36.65 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 33.3 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=636 Neurofibromatosis type 1 ORPHA:636 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2D.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009456 E (Exact mapping: the two concepts are equivalent) MedDRA:10029270 E (Exact mapping: the two concepts are equivalent) OMIM:162200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:162210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613675 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0027831 E (Exact mapping: the two concepts are equivalent) Vascular EDS with polymicrogyria ICD-10:Q79.6 OMIM:618343 UMLS:C5193159 Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=636941 Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618343 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5193159 E (Exact mapping: the two concepts are equivalent) Disseminated candidiasis Systemic candidiasis ICD-10:B37.8 ICD-11:1F23.3 MeSH:C536777 UMLS:C0153252 Adult Elderly Infancy Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=636945 Invasive candidiasis ORPHA:636945 ICD-10:B37.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F23.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536777 E (Exact mapping: the two concepts are equivalent) UMLS:C0153252 E (Exact mapping: the two concepts are equivalent) Posner-Schlossman syndrome ICD-10:H40.4 UMLS:C0152138 Adolescent Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=636950 Glaucomatocyclitic crisis disease ORPHA:636950 ICD-10:H40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0152138 E (Exact mapping: the two concepts are equivalent) Fogo selvagem A rare autoimmune bullous skin disease characterized by the formation of subcorneal blisters mediated by autoantibodies against desmoglein 1, affecting predominantly seborrheic areas such as the head, neck, and upper trunk, but without any mucosal involvement. The lesions may be worsened by exposure to UV light and typically progress over weeks or months. The disease frequently occurs in children and young adults and is endemic to rural areas of Brazil and other countries in South America, as well as North Africa. Orphanet ICD-10:L10.3 ICD-11:EB40.1 MeSH:C535551 UMLS:C0263314 All ages Europe AND has_point_prevalence_range : Unknown Tunisia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=636955 Endemic pemphigus foliaceus ORPHA:636955 ICD-10:L10.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB40.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535551 E (Exact mapping: the two concepts are equivalent) UMLS:C0263314 E (Exact mapping: the two concepts are equivalent) MSMA ICD-10:G72.8 ICD-11:8C72.0Y OMIM:608358 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=636965 Autosomal dominant myosin storage myopathy Clinical subtype ORPHA:636965 ICD-10:G72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608358 E (Exact mapping: the two concepts are equivalent) MSMB ICD-10:G72.8 ICD-11:8C72.0Y OMIM:255160 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=636970 Autosomal recessive myosin storage myopathy Clinical subtype ORPHA:636970 ICD-10:G72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:255160 E (Exact mapping: the two concepts are equivalent) Full NF2 Full neurofibromatosis type 2 Nonmosaic NF2-related schwannomatosis Nonmosaic neurofibromatosis type 2 Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. Orphanet ICD-10:Q85.0 ICD-11:LD2D.11 MeSH:D016518 OMIM:101000 UMLS:C0027832 Autosomal dominant All ages Europe AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 2.56 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.78 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=637 Full NF2-related schwannomatosis ORPHA:637 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016518 E (Exact mapping: the two concepts are equivalent) OMIM:101000 E (Exact mapping: the two concepts are equivalent) UMLS:C0027832 E (Exact mapping: the two concepts are equivalent) A rare, genetic, syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears. Orphanet ICD-10:Q87.0 OMIM:619293 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=637013 SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619293 E (Exact mapping: the two concepts are equivalent) Bornavirus encephalitis A rare infectious disease characterized by severe non-purulent meningoencephalitis caused by Borna disease virus 1 (BoDV-1). Patients present with fever, headache, malaise, and fatigue, followed after a few days by nausea, confusion and disorientation, and psychomotor slowing. Ataxia, aphasia, dyspnea, multifocal myoclonic jerks, and paraplegia have been described. The condition is very often fatal after progress to lethargy, deteriorating brain stem reflexes, and coma. Examination of the cerebrospinal fluid reveals moderate lympho-monocytic pleocytosis and presence of BoDV-1 RNA. Orphanet ICD-10:A85.8 ICD-11:1C80 UMLS:C5816783 Adolescent Adult Elderly Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=637051 Borna virus encephalitis ORPHA:637051 ICD-10:A85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5816783 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the ''double-ring'' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected. Orphanet ICD-10:Q07.8 ICD-11:LA13.70 MeSH:C563492 UMLS:C4510723 Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=637061 Isolated optic nerve hypoplasia ORPHA:637061 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C563492 E (Exact mapping: the two concepts are equivalent) UMLS:C4510723 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations. Orphanet ICD-10:Q07.8 ICD-11:LA13.71 UMLS:C5816782 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=637064 Isolated optic nerve aplasia ORPHA:637064 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816782 E (Exact mapping: the two concepts are equivalent) NFNS Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:C537393 OMIM:601321 UMLS:C2931482 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=638 Neurofibromatosis-Noonan syndrome ORPHA:638 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537393 E (Exact mapping: the two concepts are equivalent) OMIM:601321 E (Exact mapping: the two concepts are equivalent) UMLS:C2931482 E (Exact mapping: the two concepts are equivalent) Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates. Orphanet ICD-10:Q87.8 MeSH:C536633 UMLS:C2931271 Not applicable Unknown Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63862 Schisis association ORPHA:63862 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536633 E (Exact mapping: the two concepts are equivalent) UMLS:C2931271 E (Exact mapping: the two concepts are equivalent) Anti-MAG neuropathy Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. Orphanet ICD-10:G61.8 UMLS:C1736154 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG ORPHA:639 ICD-10:G61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1736154 E (Exact mapping: the two concepts are equivalent) 2p21 ERF2 RNF162C TIS11D Ensembl:ENSG00000152518 HGNC:1108 OMIM:612053 SwissProt:P47974 ZFP36L2 ZFP36 ring finger protein like 2 12q24.31 FLJ39378 Ensembl:ENSG00000188026 HGNC:26814 OMIM:614092 SwissProt:Q5EBL4 RILPL1 Rab interacting lysosomal protein like 1 Fibrosing mediastinitis Mediastinal fibrosis Sclerosing mediastinitis A rare systemic autoimmune disease characterized by an aggressive fibroinflammatory process with infiltration of IgG4-positive plasma cells in the mediastinum, potentially resulting in compression and functional impairment of vital mediastinal structures, and associated with elevated serum IgG4. Clinical symptoms are unspecific and include pain or symptoms due to mass effect. The condition may occur together with IgG4-related disease in other parts of the body. Orphanet ICD-10:J98.5 ICD-11:CB22.0 MeSH:C536136 MedDRA:10027074 UMLS:C0264573 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63999 IgG4-related mediastinitis Clinical subtype ORPHA:63999 ICD-10:J98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:CB22.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536136 E (Exact mapping: the two concepts are equivalent) MedDRA:10027074 E (Exact mapping: the two concepts are equivalent) UMLS:C0264573 E (Exact mapping: the two concepts are equivalent) A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. Orphanet ICD-10:E34.8 ICD-11:LD2H.Y MeSH:D056769 MedDRA:10068783 OMIM:203800 UMLS:C0268425 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 950.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64 Alström syndrome ORPHA:64 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056769 E (Exact mapping: the two concepts are equivalent) MedDRA:10068783 E (Exact mapping: the two concepts are equivalent) OMIM:203800 E (Exact mapping: the two concepts are equivalent) UMLS:C0268425 E (Exact mapping: the two concepts are equivalent) Current pressure-sensitive neuropathy HNPP Heterozygous microdeletion 17p11.2p12 Potato-grubbing palsy Tomaculous neuropathy Tulip-bulb digger's palsy A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people. Orphanet ICD-10:G60.0 ICD-11:8C20.Y MeSH:C536965 MedDRA:10069382 OMIM:162500 UMLS:C0393814 Autosomal dominant Adolescent Adult Childhood Elderly Infancy Europe AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=640 Hereditary neuropathy with liability to pressure palsies ORPHA:640 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536965 E (Exact mapping: the two concepts are equivalent) MedDRA:10069382 E (Exact mapping: the two concepts are equivalent) OMIM:162500 E (Exact mapping: the two concepts are equivalent) UMLS:C0393814 E (Exact mapping: the two concepts are equivalent) MMN MMNCB Multifocal motor neuropathy with conduction block Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping. Orphanet ICD-10:G61.8 ICD-11:8C01.3 MedDRA:10065579 UMLS:C0393847 Unknown Adult Japan AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641 Multifocal motor neuropathy ORPHA:641 ICD-10:G61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065579 E (Exact mapping: the two concepts are equivalent) UMLS:C0393847 E (Exact mapping: the two concepts are equivalent) MeSH:D000096803 UMLS:C5816793 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641343 Imprinting disorders Clinical group ORPHA:641343 MeSH:D000096803 E (Exact mapping: the two concepts are equivalent) UMLS:C5816793 E (Exact mapping: the two concepts are equivalent) A rare acquired pituitary hormone deficieny characterized by inflammation of the pituitary gland secondary to immunotherapy for cancers treatments (such as monoclonal antibodies against cytotoxic T lymphocytes antigen, programmed cell death protein-1, and programmed cell death ligand molecules). Major clinical features include headache, fatigue, adrenal insufficiency and hypothyroidism. Patients may also have nausea and vomiting associated to the headache as well as dizziness and hot flashes. Enlargement of the pituitary gland is present in the brain imaging. Orphanet ICD-10:E23.1 UMLS:C5816794 All ages Europe AND has_annual_incidence_average_value : 12.8074 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641350 Immunotherapy induced hypophysitis ORPHA:641350 ICD-10:E23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816794 E (Exact mapping: the two concepts are equivalent) HPDL-related Leigh-like encephalopathy HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome A rare genetic neurological syndrome of variable severity characterized by progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia. Orphanet ICD-10:G93.4 OMIM:619026 UMLS:C5816791 Infancy Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome ORPHA:641353 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619026 E (Exact mapping: the two concepts are equivalent) UMLS:C5816791 E (Exact mapping: the two concepts are equivalent) Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome A rare genetic neurological syndrome characterized by cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. Orphanet ICD-10:G11.1 OMIM:619576 UMLS:C5562005 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome ORPHA:641361 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619576 E (Exact mapping: the two concepts are equivalent) UMLS:C5562005 E (Exact mapping: the two concepts are equivalent) AR-HIES due to ZNF341 deficiency Autosomal recessive HIES due to ZNF341 deficiency Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. Orphanet ICD-10:D82.4 ICD-11:4A01.34 OMIM:618282 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 61.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency ORPHA:641368 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.34 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:618282 E (Exact mapping: the two concepts are equivalent) ICD-11:2A70.Y UMLS:C5816790 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) Etiological subtype ORPHA:641372 ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816790 E (Exact mapping: the two concepts are equivalent) ICD-11:2A70.Y UMLS:C5816789 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641375 B-lymphoblastic leukemia/lymphoma with t(17;19) Etiological subtype ORPHA:641375 ICD-11:2A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816789 E (Exact mapping: the two concepts are equivalent) 19q13.2 MGC12901 RRP41B RRP46 Rrp46p exosome component Rrp46 hRrp46p p12B Ensembl:ENSG00000077348 HGNC:24662 OMIM:606492 SwissProt:Q9NQT4 EXOSC5 exosome component 5 Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently. Orphanet ICD-10:L88 ICD-11:EB21 UMLS:C5816787 Adolescent Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641380 PAPASH syndrome ORPHA:641380 ICD-10:L88 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816787 E (Exact mapping: the two concepts are equivalent) Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyoderma gangrenosum, acne, hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on upper and lower limbs, back, and buttocks, among others), and ankylosing spondylitis. Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently. Orphanet ICD-10:L88 ICD-11:EB21 UMLS:C5816788 Adult Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641385 PASS syndrome ORPHA:641385 ICD-10:L88 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816788 E (Exact mapping: the two concepts are equivalent) Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome A rare autoinflammatory syndrome characterized by the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora). Orphanet ICD-10:L88 ICD-11:EB21 UMLS:C5816786 Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641390 PsAPASH syndrome ORPHA:641390 ICD-10:L88 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816786 E (Exact mapping: the two concepts are equivalent) CNS tuberculosis ICD-10:A17.0+ ICD-10:A17.1+ ICD-10:A17.8+ ICD-10:G01* ICD-10:G05.0* ICD-10:G07* ICD-10:G63.0* ICD-11:1B11 MeSH:D020306 UMLS:C0275904 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641396 Central nervous system tuberculosis ORPHA:641396 ICD-10:A17.0+ - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:A17.1+ - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:A17.8+ - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:G01* - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:G05.0* - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:G07* - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:G63.0* - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1B11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020306 E (Exact mapping: the two concepts are equivalent) UMLS:C0275904 E (Exact mapping: the two concepts are equivalent) COS VEOS Very early-onset schizophrenia A rare neurologic disease with psychiatric involvement characterized by prominent pre-psychotic developmental disabilities (cognitive, language, motor), socio-communicative disturbances, auditory hallucinations (visual and tactile hallucinations are rarer) preceding psychotic symptoms, presenting before 13 years of age. Co-occurrence of neurodevelopmental disorders (e.g. autism spectrum disorders, attention deficit hyperactivity disorder) is frequent. Disease course is more severe than adult-onset form of the disease, with major neurodevelopmental impact. Orphanet ICD-10:F20.0 ICD-10:F20.1 ICD-10:F20.2 ICD-10:F20.3 ICD-10:F20.4 ICD-10:F20.5 ICD-10:F20.6 ICD-10:F20.8 MeSH:D012561 UMLS:C0036346 Adolescent Childhood Europe AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641496 Childhood-onset schizophrenia ORPHA:641496 ICD-10:F20.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F20.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F20.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F20.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F20.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F20.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F20.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F20.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D012561 E (Exact mapping: the two concepts are equivalent) UMLS:C0036346 E (Exact mapping: the two concepts are equivalent) Endogenous CS A rare group of endocrine disorders caused by prolonged and high exposure levels to glucocorticoids of endogenous (adrenal cortex production) origin. Typical clinical features are truncal and facial obesity, hypercatabolic syndrome (thinned skin, purple striae, ecchymosis, bruising with no obvious trauma, proximal muscle weakness with amyotrophy, osteoporosis) and, in children, weight gain with decreasing growth velocity. Orphanet UMLS:C5419158 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641613 Endogenous Cushing syndrome Category ORPHA:641613 UMLS:C5419158 E (Exact mapping: the two concepts are equivalent) CVIC Congenital Volkmann ischemic contracture syndrome NCS Neonatal Volkmann ischemic contracture syndrome Syndrome de Volkmann congénital A rare non-inflammatory vasculopathy characterized by intracompartmental pressure typically in a distal upper extremity due to intrauterine ischemia and external compression. Affected limb presents significant swelling and sentinel skin changes (desquamation, blister/bullae formation, and skin necrosis). It can lead to long-term sequelae including Volkmann contracture, limb length discrepancies,bone growth abnormalities and nerve lesions. Neurologic involvement, ranging from sensory and motor nerve palsies to complete hand paralysis, may persist. Orphanet ICD-10:P01.8 UMLS:C5782100 Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=641829 Neonatal compartment syndrome ORPHA:641829 ICD-10:P01.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5782100 E (Exact mapping: the two concepts are equivalent) CIPA Congenital insensitivity to pain with anhidrosis HSAN4 Hereditary sensory and autonomic neuropathy type IV A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever. Orphanet ICD-10:G60.8 ICD-11:8C21.2 OMIM:256800 UMLS:C0020074 Autosomal recessive Childhood Infancy Neonatal Japan AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642 Hereditary sensory and autonomic neuropathy type 4 ORPHA:642 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:256800 E (Exact mapping: the two concepts are equivalent) UMLS:C0020074 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Adrenal Cushing syndrome OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor ORPHA:642013 Congenital pulmonary vein stenosis PPVS ICD-10:Q26.8 UMLS:C5816802 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642071 Primary pulmonary vein stenosis ORPHA:642071 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816802 E (Exact mapping: the two concepts are equivalent) EXOC6B-SEMD-JL SEMD-JL3 SEMDJL3 Spondyloepimetaphyseal dysplasia with joint laxity type 3 A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:618395 UMLS:C5193073 Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618395 E (Exact mapping: the two concepts are equivalent) UMLS:C5193073 E (Exact mapping: the two concepts are equivalent) SEMD-JL1 SEMDJL1 Spondyloepimetaphyseal dysplasia with joint laxity type 1 A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:271640 UMLS:C4017377 Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:271640 E (Exact mapping: the two concepts are equivalent) UMLS:C4017377 E (Exact mapping: the two concepts are equivalent) FH4 A rare familial hyperaldosteronism characterized by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalemia. Developmental delay, learning disabilities, behavioral abnormalities, and attention deficit disorder are observed in some patients. Orphanet ICD-10:E26.0 OMIM:617027 UMLS:C3554373 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642671 Familial hyperaldosteronism type IV ORPHA:642671 ICD-10:E26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617027 E (Exact mapping: the two concepts are equivalent) UMLS:C3554373 E (Exact mapping: the two concepts are equivalent) CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome Chromodomain helicase DNA binding protein 8 overgrowth syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions and seizures. Orphanet ICD-10:Q87.3 OMIM:615032 UMLS:C5816801 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642675 CHD8 overgrowth syndrome ORPHA:642675 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615032 E (Exact mapping: the two concepts are equivalent) UMLS:C5816801 E (Exact mapping: the two concepts are equivalent) FXPOI Fragile X-associated POF Fragile X-associated POI Fragile X-associated premature ovarian failure POF associated with fragile X premutation POI associated with fragile X premutation Premature ovarian failure associated with fragile X premutation Primary ovarian insufficiency associated with fragile X premutation A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in <i>FMR1</i> gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause. Orphanet ICD-10:E28.3 OMIM:311360 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642691 Fragile X-associated primary ovarian insufficiency ORPHA:642691 ICD-10:E28.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:311360 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spondyloepimetaphyseal dysplasia, Isidor type OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature ORPHA:642737 Adult-onset SCA47 Adult-onset spinocerebellar ataxia type 47 A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. Orphanet ICD-10:G11.2 ICD-11:8A03.1Y OMIM:617931 UMLS:C5816800 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642747 PUM1-related cerebellar ataxia ORPHA:642747 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617931 E (Exact mapping: the two concepts are equivalent) UMLS:C5816800 E (Exact mapping: the two concepts are equivalent) H1-4-related neurodevelopmental disorder Rahman syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occuring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition. Orphanet ICD-10:Q87.8 OMIM:617537 UMLS:C4479637 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation ORPHA:642763 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617537 E (Exact mapping: the two concepts are equivalent) UMLS:C4479637 E (Exact mapping: the two concepts are equivalent) CS due to cortisol-producing adrenocortical adenoma A form of adrenal Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of cortisol due to a benign adrenal tumor that arises from the adrenal cortex. Orphanet ICD-10:E24.8 UMLS:C5816799 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma ORPHA:642788 ICD-10:E24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816799 E (Exact mapping: the two concepts are equivalent) Pyknolepsy An idiopathic generalized epilepsy characterized by the appearance in an otherwise healthy child of multiple per day typical absence seizures. Epilepsy remits in the majority of children, at later by early adolescence. Orphanet ICD-10:G40.3 ICD-11:8A61.21 OMIM:600131 OMIM:607681 OMIM:611136 OMIM:611942 OMIM:612269 UMLS:C4281785 Autosomal dominant Adolescent Childhood Europe AND has_point_prevalence_range : Unknown United States AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64280 Childhood absence epilepsy ORPHA:64280 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8A61.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:600131 E (Exact mapping: the two concepts are equivalent) OMIM:607681 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611136 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:611942 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612269 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4281785 E (Exact mapping: the two concepts are equivalent) XX gonadal dysgenesis-deafness syndrome-without neurological manifestations UMLS:C5816798 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642945 Perrault syndrome type 1 Clinical subtype ORPHA:642945 UMLS:C5816798 E (Exact mapping: the two concepts are equivalent) Mild peroxisomal disorder due to PEX16 deficiency A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases). Orphanet ICD-10:G11.8 ICD-11:8A03.1Y UMLS:C5816797 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642954 Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816797 E (Exact mapping: the two concepts are equivalent) Mild peroxisomal disorder due to PEX2 deficiency A rare genetic, peroxisomal disease characterized by childhood or adolescence onset slowly progressing cerebellar ataxia and severe axonal sensorimotor polyneuropathy due to PEX 2 deficieny. Patients develop marked brain atrophy including cerebellum, cerebellar peduncles, and bulbar olives. Gait disturbance, moderate truncal ataxia, moderate cerebellar tremor, mild dysarthria, areflexia, strabismus, hypoacusia and nystagmus were also reported. Orphanet ICD-10:G11.8 ICD-11:8A03.1Y UMLS:C5816796 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642965 Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816796 E (Exact mapping: the two concepts are equivalent) XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations UMLS:C5816795 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=642976 Perrault syndrome type 2 Clinical subtype ORPHA:642976 UMLS:C5816795 E (Exact mapping: the two concepts are equivalent) GAN Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases. Orphanet ICD-10:G60.8 ICD-11:8C2Y MeSH:D056768 OMIM:256850 UMLS:C5200933 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 50.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=643 Giant axonal neuropathy ORPHA:643 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056768 E (Exact mapping: the two concepts are equivalent) OMIM:256850 E (Exact mapping: the two concepts are equivalent) UMLS:C5200933 E (Exact mapping: the two concepts are equivalent) 5q23.3 Major intrinsically disordered NOTCH2-binding receptor 1-like Ensembl:ENSG00000186367 HGNC:33914 OMIM:620215 SwissProt:P59773 MINAR2 membrane integral NOTCH2 associated receptor 2 A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Addinitonal clinical features may include gastrointestinal problems, lipodystrophy&#8208;like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male. Orphanet ICD-10:Q87.8 OMIM:617602 UMLS:C5816735 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome ORPHA:643503 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617602 E (Exact mapping: the two concepts are equivalent) UMLS:C5816735 E (Exact mapping: the two concepts are equivalent) HAFOUS due to USP7 mutation OMIM:616863 UMLS:C5816734 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=643538 Hao-Fountain syndrome due to USP7 mutation Etiological subtype ORPHA:643538 OMIM:616863 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5816734 E (Exact mapping: the two concepts are equivalent) HAFOUS A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of <i>USP7</i> gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus). Orphanet ICD-10:Q87.0 OMIM:616863 UMLS:C5393908 Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=643549 Hao-Fountain syndrome ORPHA:643549 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616863 E (Exact mapping: the two concepts are equivalent) UMLS:C5393908 E (Exact mapping: the two concepts are equivalent) 8q24.3 L8 uL2 Ensembl:ENSG00000161016 HGNC:10368 OMIM:604177 SwissProt:P62917 RPL8 ribosomal protein L8 Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome Neuropathy-ataxia-retinitis pigmentosa syndrome A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. Orphanet ICD-10:E88.8 ICD-11:8C73.1 MeSH:C537396 MedDRA:10062940 OMIM:551500 UMLS:C1328349 Mitochondrial inheritance Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=644 NARP syndrome ORPHA:644 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537396 E (Exact mapping: the two concepts are equivalent) MedDRA:10062940 E (Exact mapping: the two concepts are equivalent) OMIM:551500 E (Exact mapping: the two concepts are equivalent) UMLS:C1328349 E (Exact mapping: the two concepts are equivalent) Dermal sinus tract A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery. Orphanet ICD-10:Q76.0 UMLS:C5706141 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645188 Spinal dermal sinus ORPHA:645188 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5706141 E (Exact mapping: the two concepts are equivalent) A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements. Orphanet UMLS:C5816733 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645193 Dysraphism with stalk Clinical group ORPHA:645193 UMLS:C5816733 E (Exact mapping: the two concepts are equivalent) LDM A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. Orphanet UMLS:C5781237 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645196 Limited dorsal myeloschisis Clinical group ORPHA:645196 UMLS:C5781237 E (Exact mapping: the two concepts are equivalent) Closed spina bifida Occult spina bifida Spina bifida occulta A rare group of spinal dysraphisms, also referred to as spina bifida occulta, with a high variability in terms of severity,characterized by the absence of exposed neural tissue. The skin overlying the abnormality remains intact although the skin itself may be abnormal with features such as hairy patch of skin, crater or haemangioma. These skin features are known as the cutaneous stigmata of spinal dysraphism. Orphanet ICD-10:Q76.0 ICD-11:LB73.0 MeSH:D016136 MedDRA:10041525 UMLS:C0080174 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645202 Closed spinal dysraphism Clinical group ORPHA:645202 ICD-10:Q76.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB73.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016136 E (Exact mapping: the two concepts are equivalent) MedDRA:10041525 E (Exact mapping: the two concepts are equivalent) UMLS:C0080174 E (Exact mapping: the two concepts are equivalent) A rare dysraphism characterized by absence of skin covering, the neural elements are exposed to the external environment and there is herniation of a cerebrospinal fluid filled sac through a posterior spina bifida. It is typically located in the lumbosacral region. Evidence of complete or partial Chiari II malformation is present. Orphanet UMLS:C5816732 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645270 Open spinal dysraphism with a posterior meningocele Clinical group ORPHA:645270 UMLS:C5816732 E (Exact mapping: the two concepts are equivalent) A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect. Orphanet UMLS:C5816731 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645273 Dysraphic spinal cord lipoma Clinical group ORPHA:645273 UMLS:C5816731 E (Exact mapping: the two concepts are equivalent) A rare group of malformation characterized by the presence of lipomatous mass in direct contact with the spinal cord. It includes dysraphic (extramedullary) spinal cord lipomas and non-dysraphic (intramedullary) spinal cord lipoma. Orphanet MedDRA:10064898 UMLS:C0347446 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645276 Spinal cord lipoma Clinical group ORPHA:645276 MedDRA:10064898 E (Exact mapping: the two concepts are equivalent) UMLS:C0347446 E (Exact mapping: the two concepts are equivalent) A rare group of malformation characterized by the infiltration of fibrous-fatty tissue in the filum terminale with resultant thickening. The tip of the conus can be normal (pointed) or abnormal (blunted). Orphanet UMLS:C5816812 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645279 Fibrolipomatous filum anomaly Clinical group ORPHA:645279 UMLS:C5816812 E (Exact mapping: the two concepts are equivalent) A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord). Orphanet UMLS:C5816730 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645282 Anomaly of the filum Clinical group ORPHA:645282 UMLS:C5816730 E (Exact mapping: the two concepts are equivalent) A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. Orphanet ICD-10:Q76.0 UMLS:C5816729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645285 Chaotic conus spinal cord lipoma ORPHA:645285 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816729 E (Exact mapping: the two concepts are equivalent) A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus. Orphanet UMLS:C5816727 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645288 Terminal extramedullary conus spinal cord lipoma Clinical subtype ORPHA:645288 UMLS:C5816727 E (Exact mapping: the two concepts are equivalent) A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-"transitional" between posterior and terminal conus region spinal cord lipoma. Orphanet UMLS:C5816728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645291 Transitional extramedullary conus spinal cord lipoma Clinical subtype ORPHA:645291 UMLS:C5816728 E (Exact mapping: the two concepts are equivalent) A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated. Orphanet UMLS:C5816725 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645294 Posterior extramedullary conus spinal cord lipoma Clinical subtype ORPHA:645294 UMLS:C5816725 E (Exact mapping: the two concepts are equivalent) A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Orphanet ICD-10:Q06.8 UMLS:C5816726 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645297 Extramedullary conus spinal cord lipoma ORPHA:645297 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816726 E (Exact mapping: the two concepts are equivalent) Lipomatous flat LDM Lipomatous flat limited dorsal myeloschisis Lipomatous non-saccular LDM A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers. Orphanet UMLS:C5816723 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645300 Lipomatous non-saccular limited dorsal myeloschisis Histopathological subtype ORPHA:645300 UMLS:C5816723 E (Exact mapping: the two concepts are equivalent) Fibroneural flat LDM Fibroneural flat limited dorsal myeloschisis Fibroneural non-saccular LDM A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues. Orphanet UMLS:C5816724 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645310 Fibroneural non-saccular limited dorsal myeloschisis Histopathological subtype ORPHA:645310 UMLS:C5816724 E (Exact mapping: the two concepts are equivalent) A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation). Orphanet UMLS:C5816721 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645319 Saccular spinal dysraphism with a stalk to the dome Clinical group ORPHA:645319 UMLS:C5816721 E (Exact mapping: the two concepts are equivalent) A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. Orphanet ICD-10:Q06.8 UMLS:C5816722 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645322 Isolated transitional filum lipoma ORPHA:645322 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816722 E (Exact mapping: the two concepts are equivalent) Lipoma of the filum terminale A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation. Orphanet ICD-10:Q06.8 UMLS:C5816720 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645325 Isolated filum lipoma ORPHA:645325 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816720 E (Exact mapping: the two concepts are equivalent) A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. Orphanet ICD-10:Q76.0 UMLS:C5816811 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645334 Retained medullary cord ORPHA:645334 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816811 E (Exact mapping: the two concepts are equivalent) A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Orphanet ICD-10:Q05.9 UMLS:C5816718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645337 Terminal myelocystocele ORPHA:645337 ICD-10:Q05.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816718 E (Exact mapping: the two concepts are equivalent) A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. Orphanet ICD-10:Q05.9 UMLS:C5816719 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645340 Non-terminal myelocystocele ORPHA:645340 ICD-10:Q05.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816719 E (Exact mapping: the two concepts are equivalent) Flat LDM Non-saccular LDM A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. Orphanet ICD-10:Q76.0 UMLS:C5816717 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645343 Non-saccular limited dorsal myeloschisis ORPHA:645343 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816717 E (Exact mapping: the two concepts are equivalent) ICD-10:I77.8 ICD-11:BD52.0 MedDRA:10086467 UMLS:C4517096 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645350 Segmental arterial mediolysis ORPHA:645350 ICD-10:I77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD52.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10086467 E (Exact mapping: the two concepts are equivalent) UMLS:C4517096 E (Exact mapping: the two concepts are equivalent) Saccular LDM A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. Orphanet ICD-10:Q76.0 UMLS:C5816715 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645354 Saccular limited dorsal myeloschisis ORPHA:645354 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816715 E (Exact mapping: the two concepts are equivalent) A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura. Orphanet ICD-10:Q06.8 UMLS:C5816716 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645359 Intramedullary non-dysraphic spinal cord lipoma ORPHA:645359 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816716 E (Exact mapping: the two concepts are equivalent) Conus sparing spinal cord lipoma A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities. Orphanet ICD-10:Q76.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645362 Dorsal spinal cord lipoma ORPHA:645362 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus. Orphanet UMLS:C5816712 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645367 Conus spinal cord lipoma Clinical group ORPHA:645367 UMLS:C5816712 E (Exact mapping: the two concepts are equivalent) MyeLDM A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. Orphanet ICD-10:Q06.8 UMLS:C5816714 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645378 Myelic limited dorsal malformation ORPHA:645378 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816714 E (Exact mapping: the two concepts are equivalent) True MMC A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation). Orphanet UMLS:C5816713 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645383 True myelomeningocele Clinical subtype ORPHA:645383 UMLS:C5816713 E (Exact mapping: the two concepts are equivalent) Open split-cord malformation A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele. Orphanet UMLS:C5816710 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645388 Hemi-myelomeningocele Clinical subtype ORPHA:645388 UMLS:C5816710 E (Exact mapping: the two concepts are equivalent) Split cord malformation associated with myeloschisis A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis. Orphanet UMLS:C5816709 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645393 Hemi-myeloschisis Clinical subtype ORPHA:645393 UMLS:C5816709 E (Exact mapping: the two concepts are equivalent) A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation. Orphanet ICD-10:Q06.8 ICD-11:LA02.Y UMLS:C0266507 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645398 Myeloschisis ORPHA:645398 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0266507 E (Exact mapping: the two concepts are equivalent) A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation). Orphanet UMLS:C5816711 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645401 True myeloschisis Clinical subtype ORPHA:645401 UMLS:C5816711 E (Exact mapping: the two concepts are equivalent) Kennedy-Teebi syndrome A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 UMLS:C4304094 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64542 Acrofacial dysostosis, Kennedy-Teebi type ORPHA:64542 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304094 E (Exact mapping: the two concepts are equivalent) BINS Benign nonfamilial neonatal seizures This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Self-limited neonatal epilepsy UMLS:C5575230 Benign idiopathic neonatal seizures ORPHA:64545 UMLS:C5575230 E (Exact mapping: the two concepts are equivalent) ICD-10:M33.1 ICD-11:4A41.0 UMLS:C5816707 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645613 Classical dermatomyositis Clinical subtype ORPHA:645613 ICD-10:M33.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816707 E (Exact mapping: the two concepts are equivalent) Dermatomyositis sine myositis MeSH:C538250 UMLS:C0406645 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645617 Amyopathic dermatomyositis Clinical subtype ORPHA:645617 MeSH:C538250 E (Exact mapping: the two concepts are equivalent) UMLS:C0406645 E (Exact mapping: the two concepts are equivalent) Dermatomyositis sine dermatitis ICD-10:M33.1 ICD-11:4A41.0 UMLS:C5816708 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645626 Adermatopathic dermatomyositis Clinical subtype ORPHA:645626 ICD-10:M33.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816708 E (Exact mapping: the two concepts are equivalent) CES Congenital oesophageal stenosis A rare non-syndromic esophageal malformation characterized by intrinsic narrowing of the esophagus, caused by congenital malformation of esophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Esophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult. Orphanet ICD-10:Q39.3 ICD-11:LB12.3 MedDRA:10010564 UMLS:C1963580 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645749 Congenital esophageal stenosis ORPHA:645749 ICD-10:Q39.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB12.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10010564 E (Exact mapping: the two concepts are equivalent) UMLS:C1963580 E (Exact mapping: the two concepts are equivalent) FIP Focal intestinal perforation Isolated perforation Neonatal focal intestinal perforation SIP ICD-10:K63.1 ICD-11:KB84 UMLS:C3897004 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645793 Spontaneous intestinal perforation ORPHA:645793 ICD-10:K63.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KB84 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3897004 E (Exact mapping: the two concepts are equivalent) Primary tuberculous lymphadenopathy ICD-10:A18.2 ICD-11:1B12.6 UMLS:C5816704 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645807 Primary tuberculous lymphadenitis ORPHA:645807 ICD-10:A18.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B12.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816704 E (Exact mapping: the two concepts are equivalent) Tuberculosis of respiratory system ICD-10:A15.0 ICD-10:A15.1 ICD-10:A15.2 ICD-10:A15.3 ICD-10:A15.4 ICD-10:A15.5 ICD-10:A15.6 ICD-10:A15.7 ICD-10:A15.8 ICD-10:A16.0 ICD-10:A16.1 ICD-10:A16.2 ICD-10:A16.3 ICD-10:A16.4 ICD-10:A16.5 ICD-10:A16.7 ICD-10:A16.8 ICD-11:1B10 MeSH:D014397 UMLS:C0041327 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645814 Primary pulmonary tuberculosis ORPHA:645814 ICD-10:A15.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A15.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:A15.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A15.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A15.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A15.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A15.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A15.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A15.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A16.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014397 E (Exact mapping: the two concepts are equivalent) UMLS:C0041327 E (Exact mapping: the two concepts are equivalent) Primary musculoskeletal tuberculosis ICD-10:A18.0, ICD-11:1B12.4 UMLS:C5816705 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645822 Primary bone and joint tuberculosis ORPHA:645822 ICD-10:A18.0, - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B12.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816705 E (Exact mapping: the two concepts are equivalent) Primary skin tuberculosis ICD-10:A18.4 ICD-11:1B12.8 UMLS:C5816706 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645849 Primary cutaneous tuberculosis ORPHA:645849 ICD-10:A18.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B12.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816706 E (Exact mapping: the two concepts are equivalent) ICD-10:A18.8 ICD-11:1B12.Y UMLS:C5816701 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645854 Multifocal tuberculosis ORPHA:645854 ICD-10:A18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1B12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816701 E (Exact mapping: the two concepts are equivalent) ICD-10:A18.3 ICD-11:1B12.7 UMLS:C5816702 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645859 Primary tuberculosis of the digestive system ORPHA:645859 ICD-10:A18.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B12.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816702 E (Exact mapping: the two concepts are equivalent) Urogenital tuberculosis ICD-10:A18.1 ICD-11:1B12.5 MeSH:D014401 UMLS:C0041333 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=645874 Primary genito-urinary tuberculosis ORPHA:645874 ICD-10:A18.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B12.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014401 E (Exact mapping: the two concepts are equivalent) UMLS:C0041333 E (Exact mapping: the two concepts are equivalent) A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MeSH:D052556 OMIM:257220 OMIM:607625 UMLS:C0220756 Autosomal recessive All ages Australia AND has_birth_prevalence_average_value : 0.47 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.91 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.77 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.35 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=646 Niemann-Pick disease type C ORPHA:646 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D052556 E (Exact mapping: the two concepts are equivalent) OMIM:257220 E (Exact mapping: the two concepts are equivalent) OMIM:607625 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220756 E (Exact mapping: the two concepts are equivalent) COL6-RD OMIM:158810 OMIM:254090 UMLS:C5816703 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=646098 Collagen VI-related congenital muscular dystrophy Clinical group ORPHA:646098 OMIM:158810 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:254090 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5816703 E (Exact mapping: the two concepts are equivalent) Intermediate COL6-RD A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Orphanet ICD-10:G71.2 ICD-11:8C70.6 OMIM:158810 OMIM:254090 UMLS:C5816698 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=646113 Intermediate collagen VI-related muscular dystrophy ORPHA:646113 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:158810 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:254090 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5816698 E (Exact mapping: the two concepts are equivalent) OMIM:601356 UMLS:C5816699 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=646136 Dysplastic cortical hyperostosis, Al-Gazali type Clinical subtype ORPHA:646136 OMIM:601356 E (Exact mapping: the two concepts are equivalent) UMLS:C5816699 E (Exact mapping: the two concepts are equivalent) ICD-10:M85.8 ICD-11:LD24.1Y UMLS:C5190839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=646139 Dysplastic cortical hyperostosis ORPHA:646139 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190839 E (Exact mapping: the two concepts are equivalent) CDK13-related disorder A rare genetic syndromic intellectual disability characterized by intellectual disabilities/neurodevelopmental disorders associated with developmental delay and various others features such as congenital heart malformation and specific facial features. Orphanet ICD-10:Q87.8 OMIM:617360 UMLS:C5816700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome ORPHA:646278 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617360 E (Exact mapping: the two concepts are equivalent) UMLS:C5816700 E (Exact mapping: the two concepts are equivalent) Painful ophthalmoplegia Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. Orphanet ICD-10:H49.8 ICD-11:8A85 MeSH:D020333 MedDRA:10051526 UMLS:C0040381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64686 Tolosa-Hunt syndrome ORPHA:64686 ICD-10:H49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A85 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020333 E (Exact mapping: the two concepts are equivalent) MedDRA:10051526 E (Exact mapping: the two concepts are equivalent) UMLS:C0040381 E (Exact mapping: the two concepts are equivalent) Bartonellosis due to infection with Bartonella bacilliformis Carrion disease A rare bacterial infectious disease transmitted between humans via bites from infected sand flies in high-altitude valleys of the South American Andes, characterized by two disparate syndromes which can arise independently or sequentially. The first, Oroya fever, occurs about 60 days after the fly bite as a severe hemorrhagic fever with high mortality in untreated individuals. The second, chronic phase, termed verruga peruana, can persist for months or years and manifests with endothelial cell-derived, blood-filled tumors developing on the surface of the skin. Orphanet ICD-10:A44.0 ICD-11:1C11.0 MeSH:D001474 UMLS:C0029307 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64692 Bartonella bacilliformis infection ORPHA:64692 ICD-10:A44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C11.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001474 E (Exact mapping: the two concepts are equivalent) UMLS:C0029307 E (Exact mapping: the two concepts are equivalent) Bartonellosis due to Bartonella quintana infection A rare bacterial infectious disease caused by the louse-borne bacterium <i>Bartonella quintana</i> and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas. Orphanet ICD-10:A79.0 ICD-11:1C11.1 MeSH:D014205 MedDRA:10044582 UMLS:C0040830 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64694 Trench fever ORPHA:64694 ICD-10:A79.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C11.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014205 E (Exact mapping: the two concepts are equivalent) MedDRA:10044582 E (Exact mapping: the two concepts are equivalent) UMLS:C0040830 E (Exact mapping: the two concepts are equivalent) AT V1 Ataxia-telangiectasia, variant 1 Berlin breakage syndrome Immunodeficiency-microcephaly-chromosomal instability syndrome Microcephaly-immunodeficiency-lymphoid malignancy syndrome NBS Seemanova syndrome type 2 A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies. Orphanet ICD-10:Q87.8 ICD-11:4A01.31 MeSH:D049932 MedDRA:10067857 OMIM:251260 UMLS:C0398791 Autosomal recessive Infancy Neonatal Belarus AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Russian Federation AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : <1 / 1 000 000 Slovakia AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 1 000 000 Ukraine AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647 Nijmegen breakage syndrome ORPHA:647 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D049932 E (Exact mapping: the two concepts are equivalent) MedDRA:10067857 E (Exact mapping: the two concepts are equivalent) OMIM:251260 E (Exact mapping: the two concepts are equivalent) UMLS:C0398791 E (Exact mapping: the two concepts are equivalent) A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size. Orphanet ICD-10:C49.9 MeSH:D007890 MedDRA:10024189 UMLS:C0023269 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64720 Leiomyosarcoma ORPHA:64720 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D007890 E (Exact mapping: the two concepts are equivalent) MedDRA:10024189 E (Exact mapping: the two concepts are equivalent) UMLS:C0023269 E (Exact mapping: the two concepts are equivalent) Idiopathic granulomatous mastitis A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded. Orphanet ICD-10:N61 MeSH:D058890 UMLS:C0405469 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64722 Granulomatous mastitis ORPHA:64722 ICD-10:N61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D058890 E (Exact mapping: the two concepts are equivalent) UMLS:C0405469 E (Exact mapping: the two concepts are equivalent) ICE syndrome Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications Orphanet ICD-10:H21.1 ICD-11:LA11.Y MeSH:D057129 MedDRA:10053678 UMLS:C1096100 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64734 Iridocorneal endothelial syndrome ORPHA:64734 ICD-10:H21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D057129 E (Exact mapping: the two concepts are equivalent) MedDRA:10053678 E (Exact mapping: the two concepts are equivalent) UMLS:C1096100 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:D68.5 NON RARE IN EUROPE: Non rare thrombophilia ORPHA:64738 ICD-10:D68.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OHSS A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture. Orphanet ICD-10:N98.1 ICD-11:GA32.0 MeSH:D016471 MedDRA:10033266 OMIM:608115 UMLS:C0085083 Not applicable Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64739 Ovarian hyperstimulation syndrome ORPHA:64739 ICD-10:N98.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA32.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016471 E (Exact mapping: the two concepts are equivalent) MedDRA:10033266 E (Exact mapping: the two concepts are equivalent) OMIM:608115 E (Exact mapping: the two concepts are equivalent) UMLS:C0085083 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Recurrent acute pancreatitis ORPHA:64740 Pneumoblastoma A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung. Orphanet ICD-10:C34.1 ICD-10:C34.2 ICD-10:C34.3 ICD-10:C34.8 ICD-10:C34.9 ICD-11:2C25.Y ICD-11:XH5VH1 MeSH:D018202 UMLS:C0206629 Multigenic/multifactorial Adult Belgium AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 350.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64741 Pulmonary blastoma ORPHA:64741 ICD-10:C34.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH5VH1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018202 E (Exact mapping: the two concepts are equivalent) UMLS:C0206629 E (Exact mapping: the two concepts are equivalent) A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and dysplasia syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax. Orphanet ICD-10:C34.1 ICD-10:C34.2 ICD-10:C34.3 ICD-10:C34.8 ICD-10:C34.9 ICD-11:2C25.Y ICD-11:XH2FY9 MeSH:C537516 MedDRA:10080682 OMIM:601200 UMLS:C1266144 Autosomal dominant Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64742 Pleuropulmonary blastoma ORPHA:64742 ICD-10:C34.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH2FY9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537516 E (Exact mapping: the two concepts are equivalent) MedDRA:10080682 E (Exact mapping: the two concepts are equivalent) OMIM:601200 E (Exact mapping: the two concepts are equivalent) UMLS:C1266144 E (Exact mapping: the two concepts are equivalent) Obliterative portal venopathy A form of portosinusoidal vascular disease characterized histologically by varying degrees of phlebosclerosis, primarily involving the small and medium branches of the portal vein with heterogeneous distribution, in the absence of cirrhosis. Orphanet ICD-10:K74.1 UMLS:C4273756 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64743 Hepatoportal sclerosis Histopathological subtype ORPHA:64743 ICD-10:K74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4273756 E (Exact mapping: the two concepts are equivalent) Riedel disease Riedel thyroiditis A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease. Orphanet ICD-10:E06.5 ICD-11:4A43.0 MedDRA:10039142 UMLS:C0154162 Not applicable Adult United States AND has_annual_incidence_average_value : 1.06 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64744 IgG4-related thyroid disease Clinical subtype ORPHA:64744 ICD-10:E06.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10039142 E (Exact mapping: the two concepts are equivalent) UMLS:C0154162 E (Exact mapping: the two concepts are equivalent) PUPPP Polymorphic eruption of pregnancy A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks. Orphanet ICD-10:O26.8 ICD-11:JA65.12 MeSH:C535817 MedDRA:10066100 OMIM:178995 UMLS:C0269680 Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64745 Pruritic urticarial papules and plaques of pregnancy ORPHA:64745 ICD-10:O26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:JA65.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535817 E (Exact mapping: the two concepts are equivalent) MedDRA:10066100 E (Exact mapping: the two concepts are equivalent) OMIM:178995 E (Exact mapping: the two concepts are equivalent) UMLS:C0269680 E (Exact mapping: the two concepts are equivalent) Autosomal dominant axonal Charcot-Marie-Tooth disease CMT2 Hereditary motor and sensory neuropathy type 2 ICD-11:8C20.1 UMLS:C5548211 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 Clinical group ORPHA:64746 ICD-11:8C20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5548211 E (Exact mapping: the two concepts are equivalent) CMTX X-linked hereditary motor and sensory neuropathy A group of rare genetic peripheral neuropathies characterized by slowly progressive sensory-motor involvement leading to muscle weakness, atrophy and sensory loss, mainly affecting the distal limbs. Orphanet ICD-11:8C20.0 UMLS:C4551551 X-linked dominant X-linked recessive Europe AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64747 X-linked Charcot-Marie-Tooth disease Clinical group ORPHA:64747 ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4551551 E (Exact mapping: the two concepts are equivalent) Charcot-Marie-Tooth disease type 3 HMSN 3 HMSN III Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type III A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) and <i>PRX</i> (19q13.2) have been implicated. Orphanet ICD-10:G60.0 ICD-11:8C20.Y OMIM:145900 OMIM:618184 UMLS:C0011195 Autosomal dominant Autosomal recessive Not applicable Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64748 Dejerine-Sottas syndrome ORPHA:64748 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:145900 E (Exact mapping: the two concepts are equivalent) OMIM:618184 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0011195 E (Exact mapping: the two concepts are equivalent) AR-CMT1 Autosomal recessive demyelinating Charcot-Marie-Tooth CMT4 A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Orphanet ICD-11:8C20.0 UMLS:C4082197 Autosomal recessive Childhood Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64749 Charcot-Marie-Tooth disease type 4 Clinical group ORPHA:64749 ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4082197 E (Exact mapping: the two concepts are equivalent) Charcot-Marie-Tooth disease-pyramidal features syndrome HMSN 5 HMSN V Hereditary motor and sensory neuropathy type V Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. Orphanet ICD-10:G60.0 ICD-11:8C20.Y OMIM:600361 UMLS:C4721916 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64751 Hereditary motor and sensory neuropathy type 5 ORPHA:64751 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600361 E (Exact mapping: the two concepts are equivalent) UMLS:C4721916 E (Exact mapping: the two concepts are equivalent) CIP Congenital insensitivity to pain and thermal analgesia HSAN5 Hereditary sensory and autonomic neuropathy type V A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. Orphanet ICD-10:G60.8 ICD-11:8C21.3 OMIM:608654 UMLS:C0020075 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.035 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64752 Hereditary sensory and autonomic neuropathy type 5 ORPHA:64752 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:608654 E (Exact mapping: the two concepts are equivalent) UMLS:C0020075 E (Exact mapping: the two concepts are equivalent) AOA2 Ataxia-oculomotor apraxia type 2 SCAN 2 SCAR1 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. Orphanet ICD-10:G60.2 ICD-11:9C82.4 OMIM:606002 OMIM:615217 Autosomal recessive Adolescent Adult Childhood France AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64753 Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753 ICD-10:G60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606002 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615217 BTNT (ORPHAcode is broader than the targeted code used to represent it) A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay. Orphanet ICD-10:Q82.5 ICD-11:LD2D.Y OMIM:617025 UMLS:C0265987 Not applicable Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64754 Nevus comedonicus syndrome ORPHA:64754 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:617025 E (Exact mapping: the two concepts are equivalent) UMLS:C0265987 E (Exact mapping: the two concepts are equivalent) Becker melanosis Becker naevus syndrome Pigmentary hairy epidermal nevus Pigmented hairy epidermal naevus Pigmented hairy epidermal nevus A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy. Orphanet ICD-10:D22.5 ICD-11:LC02 MeSH:C565735 OMIM:604919 UMLS:C1858042 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=64755 Becker nevus syndrome ORPHA:64755 ICD-10:D22.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565735 E (Exact mapping: the two concepts are equivalent) OMIM:604919 E (Exact mapping: the two concepts are equivalent) UMLS:C1858042 E (Exact mapping: the two concepts are equivalent) MADaM MDPS Mandibuloacral dysplasia progeroid syndrome ICD-10:Q87.5 OMIM:619127 UMLS:C5436867 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647667 Mandibuloacral dysplasia associated to MTX2 ORPHA:647667 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619127 E (Exact mapping: the two concepts are equivalent) UMLS:C5436867 E (Exact mapping: the two concepts are equivalent) CANT1-related multiple epiphyseal dysplasia EDM7 MED7 ICD-10:Q77.3 OMIM:617719 UMLS:C4540251 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647676 Multiple epiphyseal dysplasia type 7 ORPHA:647676 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617719 E (Exact mapping: the two concepts are equivalent) UMLS:C4540251 E (Exact mapping: the two concepts are equivalent) ERF-related syndromic craniosynostosis ICD-10:Q87.0 OMIM:600775 UMLS:C5816752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome ORPHA:647681 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:600775 E (Exact mapping: the two concepts are equivalent) UMLS:C5816752 E (Exact mapping: the two concepts are equivalent) Adrenal CS A group of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma), or malignant (adrenocortical carcinoma) adrenocortical tumor, or nodular adrenocortical disease, including Cushing syndrome due to bilateral macronodular adrenocortical disease (BMAD), isolated micronodular adrenocortical disease (i-MAD) and primary pigmented nodular adrenocortical disease (PPNAD; isolated or in Carney complex). Orphanet UMLS:C0342443 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647758 Adrenal Cushing syndrome Clinical group ORPHA:647758 UMLS:C0342443 E (Exact mapping: the two concepts are equivalent) UMLS:C5816751 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647768 Rare adrenocortical nodular disease with Cushing syndrome as a major feature Clinical group ORPHA:647768 UMLS:C5816751 E (Exact mapping: the two concepts are equivalent) Isolated PPNAD i-PPNAD A rare adrenocortical nodular disease characterized by increased to normal sized adrenal glands containing multiple small (less than 1&nbsp;cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules. Orphanet ICD-10:E24.8 UMLS:C5816750 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647772 Isolated primary pigmented nodular adrenocortical disease ORPHA:647772 ICD-10:E24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816750 E (Exact mapping: the two concepts are equivalent) i-MAD ICD-10:E24.8 UMLS:C5816756 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647782 Isolated micronodular adrenocortical disease ORPHA:647782 ICD-10:E24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816756 E (Exact mapping: the two concepts are equivalent) DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome DHX30-related neurodevelopmental disorder ICD-10:G11.8 OMIM:617804 UMLS:C5816755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome ORPHA:647788 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617804 E (Exact mapping: the two concepts are equivalent) UMLS:C5816755 E (Exact mapping: the two concepts are equivalent) Isolated PUGS ICD-10:Q52.8 UMLS:C5816754 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647794 Isolated persistent urogenital sinus ORPHA:647794 ICD-10:Q52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816754 E (Exact mapping: the two concepts are equivalent) MYT1L-associated neurodevelopmental disorder A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions), non-specific magnetic resonance imaging (brain MRI) abnormalities, ophthalmologic abnormalities, epilepsy, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated. Orphanet ICD-10:Q87.1 OMIM:616521 UMLS:C5816753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome ORPHA:647799 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616521 E (Exact mapping: the two concepts are equivalent) UMLS:C5816753 E (Exact mapping: the two concepts are equivalent) A rare combined T and B cell immunodeficiency characterized by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia. Orphanet ICD-10:D81.8 OMIM:619164 UMLS:C5816748 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647804 Combined immunodeficiency due to FCHO1 deficiency ORPHA:647804 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619164 E (Exact mapping: the two concepts are equivalent) UMLS:C5816748 E (Exact mapping: the two concepts are equivalent) 2q24.1 G protein-activated inward rectifier potassium channel 1 GIRK1 KGA Kir3.1 Ensembl:ENSG00000162989 HGNC:6264 IUPHAR:434 OMIM:601534 SwissProt:P48549 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 MYRF-related cardiac urogenital syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambigous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. Orphanet ICD-10:Q87.8 OMIM:618280 UMLS:C4748946 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647811 Cardiac-urogenital syndrome ORPHA:647811 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618280 E (Exact mapping: the two concepts are equivalent) UMLS:C4748946 E (Exact mapping: the two concepts are equivalent) KFH Keratoendotheliitis fugax hereditaria A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Orphanet ICD-10:H16.8 OMIM:148200 UMLS:C1835697 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647815 Keratitis fugax hereditaria ORPHA:647815 ICD-10:H16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:148200 E (Exact mapping: the two concepts are equivalent) UMLS:C1835697 E (Exact mapping: the two concepts are equivalent) Idiopathic premenopausal osteoporosis associated with pregnancy Osteoporosis of pregnancy PAO PLO Pregnancy and lactation-associated osteoporosis Pregnancy induced osteoporosis ICD-10:O26.8 ICD-11:FB83.1Y UMLS:C5782297 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647823 Idiopathic pregnancy-associated osteoporosis ORPHA:647823 ICD-10:O26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB83.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5782297 E (Exact mapping: the two concepts are equivalent) A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. Orphanet ICD-10:E83.1 OMIM:606069 UMLS:C5816749 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647834 SLC40A1-related hemochromatosis ORPHA:647834 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606069 E (Exact mapping: the two concepts are equivalent) UMLS:C5816749 E (Exact mapping: the two concepts are equivalent) Siamese twins ICD-10:Q89.4 ICD-11:LD2G MeSH:D014428 MedDRA:10010688 UMLS:C0041428 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647916 Conjoined twins ORPHA:647916 ICD-10:Q89.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD2G - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014428 E (Exact mapping: the two concepts are equivalent) MedDRA:10010688 E (Exact mapping: the two concepts are equivalent) UMLS:C0041428 E (Exact mapping: the two concepts are equivalent) A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. Orphanet ICD-10:Q87.1 ICD-11:LD2F.15 MeSH:D009634 MedDRA:10029748 OMIM:163950 OMIM:605275 OMIM:609942 OMIM:610733 OMIM:611553 OMIM:613224 OMIM:613706 OMIM:615355 OMIM:616559 OMIM:616564 OMIM:618499 OMIM:618624 OMIM:619087 OMIM:619745 UMLS:C0028326 Autosomal dominant Autosomal recessive Antenatal Childhood Infancy Neonatal United States AND has_birth_prevalence_average_value : 70.0 AND has_birth_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648 Noonan syndrome ORPHA:648 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.15 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009634 E (Exact mapping: the two concepts are equivalent) MedDRA:10029748 E (Exact mapping: the two concepts are equivalent) OMIM:163950 E (Exact mapping: the two concepts are equivalent) OMIM:605275 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609942 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610733 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611553 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613224 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613706 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615355 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616559 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616564 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618499 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618624 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619087 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619745 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0028326 E (Exact mapping: the two concepts are equivalent) Xq26.3 FLJ20527 Ensembl:ENSG00000169551 HGNC:26047 OMIM:301105 SwissProt:Q8WUE5 CT55 cancer/testis antigen 55 14q21.2 Ensembl:ENSG00000165496 HGNC:17976 OMIM:619655 SwissProt:Q96L21 RPL10L ribosomal protein L10 like 8p21.2 CRMP2 DHPRP2 DRP-2 DRP2 Ensembl:ENSG00000092964 HGNC:3014 OMIM:602463 SwissProt:Q16555 DPYSL2 dihydropyrimidinase like 2 20q13.33 TAFII130 TAFII135 Ensembl:ENSG00000130699 HGNC:11537 OMIM:601796 SwissProt:O00268 TAF4 TATA-box binding protein associated factor 4 3q27.3 BM-010 DDX2B EIF4A Ensembl:ENSG00000156976 HGNC:3284 OMIM:601102 SwissProt:Q14240 EIF4A2 eukaryotic translation initiation factor 4A2 12p13.32 AKAP110 CT82 FSP95 Fibrous Sheath Protein of 95 kDa SOB1 cancer/testis antigen 82 Ensembl:ENSG00000111254 HGNC:373 OMIM:604689 SwissProt:O75969 AKAP3 A-kinase anchoring protein 3 20p11.23 CaM-IP3 DKFZP434K156 dJ1002M8.3 hypothetical protein LOC26074 Ensembl:ENSG00000089101 HGNC:15872 OMIM:620381 SwissProt:Q8NHU2 CFAP61 cilia and flagella associated protein 61 6p21.31 FLJ25390 Ensembl:ENSG00000157343 HGNC:21099 OMIM:620377 SwissProt:Q5T9G4 ARMC12 armadillo repeat containing 12 4q21.1 Ensembl:ENSG00000138750 HGNC:17359 OMIM:607607 SwissProt:Q7Z3B4 NUP54 nucleoporin 54 9q22.31 CENP-P RP11-19J3.3 Ensembl:ENSG00000188312 HGNC:32933 OMIM:611505 SwissProt:Q6IPU0 CENPP centromere protein P 20q11.23 VGAT bA122O1.1 Ensembl:ENSG00000101438 HGNC:11018 IUPHAR:1133 OMIM:616440 SwissProt:Q9H598 SLC32A1 solute carrier family 32 member 1 5q22.2 Ensembl:ENSG00000153037 HGNC:11300 OMIM:182175 SwissProt:P09132 SRP19 signal recognition particle 19 22q13.31 Ensembl:ENSG00000188064 HGNC:12787 OMIM:601967 SwissProt:P56706 WNT7B Wnt family member 7B 2q24.3 KIAA0977 Ensembl:ENSG00000082438 HGNC:23571 OMIM:610318 SwissProt:Q53SF7 COBLL1 cordon-bleu WH2 repeat protein like 1 4q24 FLJ20184 Ensembl:ENSG00000236699 HGNC:25968 OMIM:619919 SwissProt:Q9NXL2 ARHGEF38 Rho guanine nucleotide exchange factor 38 17q22 DB1 Ensembl:ENSG00000136451 HGNC:12949 OMIM:606747 SwissProt:Q14119 VEZF1 vascular endothelial zinc finger 1 UMLS:C5816743 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648559 Rare scleritis Clinical group ORPHA:648559 UMLS:C5816743 E (Exact mapping: the two concepts are equivalent) A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations. Orphanet ICD-10:E83.1 OMIM:606069 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648562 Ferroportin disease ORPHA:648562 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606069 NTBT (ORPHAcode is narrower than the targeted code used to represent it) A group of genetic disorders of iron overload comprising the rarer forms of hemochromatosis (HC), characterized by a phenotype of severe tissue iron deposition. These rare forms are HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis and SLC40A1-related hemochromatosis. Orphanet UMLS:C5816745 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648569 Non-HFE-related hemochromatosis Clinical group ORPHA:648569 UMLS:C5816745 E (Exact mapping: the two concepts are equivalent) A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. Orphanet ICD-10:E83.1 UMLS:C5816744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648581 Digenic hemochromatosis ORPHA:648581 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816744 E (Exact mapping: the two concepts are equivalent) ICD-10:H15.0 UMLS:C5816746 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648665 Infectious scleritis ORPHA:648665 ICD-10:H15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816746 E (Exact mapping: the two concepts are equivalent) A rare form of scleritis characterized by tender or painful, violet-blueish eye, with edema and injection of deep scleral vessels, in the absence of infection or systemic autoimmune diseases. It can be unilateral or bilateral. Other ocular signs depend on the localisation (anterior or posterior) and on the type of scleritis (diffuse, nodular or necrotizing). Extension to other layers of the eye and to peri-ocular tissues as well as visual impairment are potential complications. Idiopathic scleritis is more frequent in children than in adults. Orphanet ICD-10:H15.0 UMLS:C5816747 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648675 Idiopathic scleritis ORPHA:648675 ICD-10:H15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816747 E (Exact mapping: the two concepts are equivalent) A rare scleritis characterized by severe ocular inflammation of sclera associated with an underlying systemic inflammatory condition, most often rheumatoid arthritis, granulomatosis with polyangiitis, but also seronegative spondyloarthropathies, vasculitides and systemic lupus erythematosus. Ocular presentation is a tender or painful, violet-blueish eye, with injection of deep scleral vessels. It can be unilateral or bilateral. Immune-mediated scleritis is more often granulomatous and/or necrotizing. Systemic clinical signs depend on the underlying disease. Orphanet ICD-10:H15.0 MedDRA:10087281 UMLS:C5578029 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648681 Immune-mediated scleritis ORPHA:648681 ICD-10:H15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10087281 E (Exact mapping: the two concepts are equivalent) UMLS:C5578029 E (Exact mapping: the two concepts are equivalent) CRAO ICD-10:H34.1 ICD-11:9B74.0 UMLS:C0007688 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648684 Central retinal artery occlusion ORPHA:648684 ICD-10:H34.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9B74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0007688 E (Exact mapping: the two concepts are equivalent) Idiopathic catatonic syndrome Isolated catatonia Isolated catatonic syndrome A rare neurologic disease with psychiatric involvement characterized by a cluster of signs and symptoms of catatonia that is not associated with any underlying psychiatric or organic disorder or intoxication. Orphanet ICD-10:F20.2 UMLS:C5816742 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648919 Idiopathic catatonia ORPHA:648919 ICD-10:F20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816742 E (Exact mapping: the two concepts are equivalent) ICD-10:Q32.4 UMLS:C5816737 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=648992 Non-syndromic bridging bronchus ORPHA:648992 ICD-10:Q32.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816737 E (Exact mapping: the two concepts are equivalent) Atrophia bulborum hereditaria Episkopi blindness Norrie-Warburg disease A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. Orphanet ICD-10:H35.5 ICD-11:LD21.Y MeSH:C537849 MedDRA:10069760 OMIM:310600 UMLS:C0266526 X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=649 Norrie disease ORPHA:649 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537849 E (Exact mapping: the two concepts are equivalent) MedDRA:10069760 E (Exact mapping: the two concepts are equivalent) OMIM:310600 E (Exact mapping: the two concepts are equivalent) UMLS:C0266526 E (Exact mapping: the two concepts are equivalent) Non-syndromic CBA ICD-10:Q32.4 UMLS:C5816738 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=649010 Non-syndromic congenital bronchial atresia ORPHA:649010 ICD-10:Q32.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). UMLS:C5816738 E (Exact mapping: the two concepts are equivalent) UMLS:C5816739 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=649014 Bronchial malformation Clinical group ORPHA:649014 UMLS:C5816739 E (Exact mapping: the two concepts are equivalent) UMLS:C5816740 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=649017 Rare adrenocortical nodular disease Clinical group ORPHA:649017 UMLS:C5816740 E (Exact mapping: the two concepts are equivalent) Left bronchial isomerism without heterotaxy ICD-10:Q32.4 UMLS:C5816741 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=649029 Isolated left bronchial isomerism ORPHA:649029 ICD-10:Q32.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5816741 E (Exact mapping: the two concepts are equivalent) 8q22.3 FLJ12929 ST7 Ensembl:ENSG00000147650 HGNC:31708 OMIM:618299 SwissProt:Q9Y561 LRP12 LDL receptor related protein 12 1p13.1 NSCL2 bHLHa34 Ensembl:ENSG00000177551 HGNC:7818 OMIM:162361 SwissProt:Q02577 NHLH2 nescient helix-loop-helix 2 15q23 ADAMTSL6 FLJ13710 FVSY9334 PRO34005 Ensembl:ENSG00000187720 HGNC:25835 OMIM:614476 SwissProt:Q6ZMP0 THSD4 thrombospondin type 1 domain containing 4 1p34.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 Ensembl:ENSG00000132768 HGNC:3004 OMIM:603456 SwissProt:Q9BQC3 DPH2 diphthamide biosynthesis 2 1q32.1 FLJ90349 SNARK SNF1/AMP activated protein kinase Ensembl:ENSG00000163545 HGNC:29558 IUPHAR:2130 OMIM:608131 SwissProt:Q9H093 NUAK2 NUAK family kinase 2 CPP in boy CPP in male Central precocious puberty in boy UMLS:C5816736 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=649929 Central precocious puberty in male Clinical group ORPHA:649929 UMLS:C5816736 E (Exact mapping: the two concepts are equivalent) 16p13.3 Ensembl:ENSG00000140986 HGNC:10351 OMIM:617416 SwissProt:Q92901 RPL3L ribosomal protein L3 like 2q32.1 CGRPR CRLR Ensembl:ENSG00000064989 HGNC:16709 IUPHAR:47 OMIM:114190 SwissProt:Q16602 CALCRL calcitonin receptor like receptor Amaurosis congenita of Leber Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:D057130 MedDRA:10070667 OMIM:179900 OMIM:204000 OMIM:204100 OMIM:604232 OMIM:604393 OMIM:604537 OMIM:608553 OMIM:610612 OMIM:611755 OMIM:612712 OMIM:613341 OMIM:613826 OMIM:613829 OMIM:613835 OMIM:613837 OMIM:613843 OMIM:614186 OMIM:615360 OMIM:618513 UMLS:C0339527 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.23 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65 Leber congenital amaurosis ORPHA:65 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D057130 E (Exact mapping: the two concepts are equivalent) MedDRA:10070667 E (Exact mapping: the two concepts are equivalent) OMIM:179900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:204000 E (Exact mapping: the two concepts are equivalent) OMIM:204100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604232 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604393 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604537 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608553 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610612 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611755 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612712 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613341 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613826 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613829 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613835 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613837 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613843 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614186 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615360 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618513 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0339527 E (Exact mapping: the two concepts are equivalent) Lecithin-cholesterol acyltransferase deficiency LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. Orphanet ICD-10:E78.6 ICD-11:5C81.0 MeSH:D007863 MedDRA:10077917 OMIM:136120 OMIM:245900 UMLS:C0023195 Autosomal recessive All ages Worldwide AND has_cases/families_value : 125.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650 LCAT deficiency ORPHA:650 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D007863 E (Exact mapping: the two concepts are equivalent) MedDRA:10077917 E (Exact mapping: the two concepts are equivalent) OMIM:136120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:245900 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0023195 E (Exact mapping: the two concepts are equivalent) 2q35 MGC50811 Ensembl:ENSG00000158428 HGNC:25062 OMIM:619387 SwissProt:Q7Z7H3 CATIP ciliogenesis associated TTC17 interacting protein 4p16.3 FLJ38841 Ensembl:ENSG00000178222 HGNC:27729 OMIM:612041 SwissProt:Q495C1 RNF212 ring finger protein 212 16q22.1 FLJ35894 Ensembl:ENSG00000249961 HGNC:26675 OMIM:617332 SwissProt:Q8NA31 TERB1 telomere repeat binding bouquet formation protein 1 15q21.1 MGC33951 Ensembl:ENSG00000167014 HGNC:28520 OMIM:617131 SwissProt:Q8NHR7 TERB2 telomere repeat binding bouquet formation protein 2 22q13.33 CHAMP DJ402G11.8 DKFZp434B0717 cardiac helicase activated by MEF2C protein Ensembl:ENSG00000073146 HGNC:7201 OMIM:605794 SwissProt:Q9BXT6 MOV10L1 Mov10 like RNA helicase 1 8q22.2 Fbx43 Ensembl:ENSG00000156509 HGNC:28521 OMIM:609110 SwissProt:Q4G163 FBXO43 F-box protein 43 7p12.2 SP38 ZPBP1 Ensembl:ENSG00000042813 HGNC:15662 OMIM:608498 SwissProt:Q9BS86 ZPBP zona pellucida binding protein 2q33.1 FLJ25351 Ensembl:ENSG00000155754 HGNC:14438 OMIM:619776 SwissProt:Q53TS8 C2CD6 C2 calcium dependent domain containing 6 19q13.2 FLJ35713 MGC33369 Ensembl:ENSG00000179168 HGNC:18869 OMIM:609966 SwissProt:Q86UU5 GGN gametogenetin 9q31.3 FLJ32779 MZIP2 Zip2 Zip2 homolog (S. cerevisiae) Ensembl:ENSG00000165181 HGNC:26535 OMIM:618038 SwissProt:Q5VXU9 SHOC1 shortage in chiasmata 1 15q21.1 FLJ12286 MGC5347 Ensembl:ENSG00000171763 HGNC:28762 OMIM:619578 SwissProt:Q9BVQ7 AFG2B AFG2 AAA ATPase homolog B Gonadotropin-dependant precocious puberty Rare CPP UMLS:C5816766 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650063 Rare central precocious puberty Clinical group ORPHA:650063 UMLS:C5816766 E (Exact mapping: the two concepts are equivalent) Rare CPP in female Rare central precocious puberty in girl UMLS:C5816764 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650070 Rare central precocious puberty in female Clinical group ORPHA:650070 UMLS:C5816764 E (Exact mapping: the two concepts are equivalent) Genetic CPP in female Genetic CPP in girl Genetic central precocious puberty in girl ICD-10:E22.8 UMLS:C5816765 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650077 Genetic central precocious puberty in female ORPHA:650077 ICD-10:E22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816765 E (Exact mapping: the two concepts are equivalent) Secondary CPP in female Secondary CPP in girl Secondary central precocious puberty in girl ICD-10:E22.8 UMLS:C5816762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650082 Secondary central precocious puberty in female ORPHA:650082 ICD-10:E22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816762 E (Exact mapping: the two concepts are equivalent) Primary CPP in boy Primary CPP in male Primary central precocious puberty in boy ICD-10:E22.8 UMLS:C5816763 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650087 Primary central precocious puberty in male ORPHA:650087 ICD-10:E22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816763 E (Exact mapping: the two concepts are equivalent) Secondary CPP in boy Secondary CPP in male Secondary central precocious puberty in boy ICD-10:E22.8 UMLS:C5816760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650092 Secondary central precocious puberty in male ORPHA:650092 ICD-10:E22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5816760 E (Exact mapping: the two concepts are equivalent) Genetic CPP in boy Genetic CPP in male Genetic central precocious puberty in boy OMIM:176400 UMLS:C5816761 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650097 Genetic central precocious puberty in male Clinical subtype ORPHA:650097 OMIM:176400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5816761 E (Exact mapping: the two concepts are equivalent) Non-genetic CPP in boy Non-genetic CPP in male Non-genetic central precocious puberty in boy UMLS:C5816759 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650102 Non-genetic central precocious puberty in male Clinical subtype ORPHA:650102 UMLS:C5816759 E (Exact mapping: the two concepts are equivalent) Genetic CPP UMLS:C5816758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650182 Genetic central precocious puberty Clinical group ORPHA:650182 UMLS:C5816758 E (Exact mapping: the two concepts are equivalent) UMLS:C5816757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=650187 Rare peripheral precocious puberty in female Clinical group ORPHA:650187 UMLS:C5816757 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Congenital idiopathic nystagmus NON RARE IN EUROPE: Infantile nystagmus syndrome NON RARE IN EUROPE: Motor congenital nystagmus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Idiopathic infantile nystagmus ORPHA:651 MEN1 Wermer syndrome A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients. Orphanet ICD-10:D44.8 ICD-11:2F7A.0 MeSH:D018761 MedDRA:10028190 OMIM:131100 UMLS:C0025267 Autosomal dominant Not applicable All ages Europe AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652 Multiple endocrine neoplasia type 1 ORPHA:652 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018761 E (Exact mapping: the two concepts are equivalent) MedDRA:10028190 E (Exact mapping: the two concepts are equivalent) OMIM:131100 E (Exact mapping: the two concepts are equivalent) UMLS:C0025267 E (Exact mapping: the two concepts are equivalent) A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behaviour abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/ overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large everted ears and thin upper lip). Other clinical features include variable and mild intellectual diability when present, broad short hands and feet. Orphanet ICD-10:Q87.3 OMIM:620439 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome ORPHA:652487 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620439 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Tarlov cyst This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. MeSH:D052958 UMLS:C0520720 NON RARE IN EUROPE: Perineural cyst ORPHA:65250 MeSH:D052958 E (Exact mapping: the two concepts are equivalent) UMLS:C0520720 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652510 Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa Clinical group ORPHA:652510 OMIM:600987 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation Clinical subtype ORPHA:652514 OMIM:600987 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have an autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. Orphanet ICD-10:Q87.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652519 Cleft palate-congenital heart defect-intellectual disability syndrome ORPHA:652519 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). PFITS ICD-10:D84.8 OMIM:150550 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:150550 E (Exact mapping: the two concepts are equivalent) Non-syndromic accessory kidneys Non-syndromic accessory kydney Non-syndromic supernumerary kidney ICD-10:Q63.0 UMLS:C0266298 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652528 Non-syndromic supernumerary kidneys ORPHA:652528 ICD-10:Q63.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0266298 E (Exact mapping: the two concepts are equivalent) Adult-onset progressive leukoencephalopathy-early-onset hearing loss A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. Orphanet ICD-10:G37.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652532 Adult-onset progressive leukoencephalopathy-early-onset deafness ORPHA:652532 ICD-10:G37.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Follicular T-cell Lymphoma Follicular helper T-cell lymphoma, follicular type Nodal T-cell lymphoma with TFH phenotype Nodal TFH lymphoma, follicular type nTFHL-F ICD-10:C82.7 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652650 Nodal T-follicular helper cell lymphoma, follicular type ORPHA:652650 ICD-10:C82.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Enteropathy-associated T-cell lymphoma type 2 MEITL ICD-10:C86.2 UMLS:C3272525 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652658 Monomorphic epitheliotropic intestinal T-cell lymphoma ORPHA:652658 ICD-10:C86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3272525 E (Exact mapping: the two concepts are equivalent) SVCA ICD-10:Q26.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652668 Primary superior vena cava aneurysm ORPHA:652668 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q26.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652678 Primary inferior vena cava aneurysm ORPHA:652678 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). iSGS A rare otorhinolaryngologic disease characterized by recurrent and severe obstruction of the central airway in the region bounded superiorly by a plane below the glottis and inferiorly by the first two tracheal rings. Symptoms may involve respiratory distress, dysphonia, exertional dyspnea, stridor, chronic cough and wheezing. Diagnosis is challenging due to the lack of apparent etiology and nonspecific respiratory symptoms that can be confounded with other common respiratory diseases and may also occur in late course of the disease. Thorough clinical and laboratory evaluation aims to exclude other causes of subglottic stenosis is therefore essential. Affected patients are almost exclusively Caucasian women between 30-60&nbsp;years old. Orphanet ICD-10:J38.7 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652681 Idiopathic subglottic stenosis ORPHA:652681 ICD-10:J38.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inflammatory bowel disease OBSOLETE: Lymphocytic colitis ORPHA:65279 16p13.3 Cwc21 KIAA0324 SRL300 SRm300 Ensembl:ENSG00000167978 HGNC:16639 OMIM:606032 SwissProt:Q9UQ35 SRRM2 serine/arginine repetitive matrix 2 KWWH type II Keratoderma with woolly hair type II Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome A rare genetic ectodermal dysplasia syndrome characterized by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Orphanet ICD-10:I42.0 ICD-11:BC43.6 MeSH:C535581 OMIM:605676 OMIM:615821 UMLS:C1854063 Autosomal dominant Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65282 Carvajal syndrome ORPHA:65282 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535581 E (Exact mapping: the two concepts are equivalent) OMIM:605676 E (Exact mapping: the two concepts are equivalent) OMIM:615821 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1854063 E (Exact mapping: the two concepts are equivalent) LQT8 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. Orphanet ICD-10:I49.8 ICD-11:BC65.0 MeSH:C536962 MedDRA:10079205 OMIM:601005 OMIM:618447 UMLS:C1832916 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 56.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65283 Timothy syndrome ORPHA:65283 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536962 E (Exact mapping: the two concepts are equivalent) MedDRA:10079205 E (Exact mapping: the two concepts are equivalent) OMIM:601005 E (Exact mapping: the two concepts are equivalent) OMIM:618447 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1832916 E (Exact mapping: the two concepts are equivalent) BBGD BTBGD Biotin-responsive basal ganglia disease A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine. Orphanet ICD-10:G93.8 ICD-11:5C63.Y MeSH:C537658 OMIM:607483 UMLS:C1843807 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65284 Biotin-thiamine-responsive basal ganglia disease ORPHA:65284 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537658 E (Exact mapping: the two concepts are equivalent) OMIM:607483 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1843807 E (Exact mapping: the two concepts are equivalent) Dysplastic gangliocytoma of the cerebellum LDD A rare developmental defect during embryogenesis characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. The tumors can be characterized by the abnormal growth of ganglion cells that regulate activities in the cerebellum. Orphanet ICD-10:Q04.8 ICD-11:2A00.21 OMIM:158350 UMLS:C0391826 Autosomal dominant Not applicable Adult Worldwide AND has_cases/families_value : 220.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65285 Lhermitte-Duclos disease ORPHA:65285 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:158350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0391826 E (Exact mapping: the two concepts are equivalent) 3q subtelomere deletion syndrome 3qter deletion Del(3)(q29) Monosomy 3q29 Monosomy 3qter A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Orphanet ICD-10:Q93.5 ICD-11:LD44.30 MeSH:C567184 OMIM:609425 UMLS:C2674949 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65286 3q29 microdeletion syndrome ORPHA:65286 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567184 E (Exact mapping: the two concepts are equivalent) OMIM:609425 E (Exact mapping: the two concepts are equivalent) UMLS:C2674949 E (Exact mapping: the two concepts are equivalent) Beta-alanine synthase deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). Orphanet ICD-10:E79.8 ICD-11:5C55.1 MeSH:C563210 OMIM:613161 UMLS:C1291512 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65287 Beta-ureidopropionase deficiency ORPHA:65287 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563210 E (Exact mapping: the two concepts are equivalent) OMIM:613161 E (Exact mapping: the two concepts are equivalent) UMLS:C1291512 E (Exact mapping: the two concepts are equivalent) Pancreatic and cerebellar agenesis A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. Orphanet ICD-10:P70.2 ICD-11:KB60.2Y MeSH:C563796 OMIM:609069 UMLS:C1836780 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ORPHA:65288 ICD-10:P70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KB60.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563796 E (Exact mapping: the two concepts are equivalent) OMIM:609069 E (Exact mapping: the two concepts are equivalent) UMLS:C1836780 E (Exact mapping: the two concepts are equivalent) MEN2 A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism. Orphanet ICD-10:D44.8 ICD-11:2F7A.0 MedDRA:10028191 OMIM:155240 OMIM:162300 OMIM:171400 UMLS:C4048306 Autosomal dominant Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 2.9 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 1.25 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653 Multiple endocrine neoplasia type 2 ORPHA:653 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10028191 E (Exact mapping: the two concepts are equivalent) OMIM:155240 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:162300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:171400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4048306 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653434 Autoinflammatory syndrome with acne and/or hidradenitis suppurativa Clinical group ORPHA:653434 Lymphocytic mastopathy Sclerosing lymphocytic lobulitis ICD-10:N61 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653698 Lymphocytic mastitis ORPHA:653698 ICD-10:N61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:H35.5 OMIM:617547 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653709 Cone rod dystrophy-short stature syndrome ORPHA:653709 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617547 E (Exact mapping: the two concepts are equivalent) CHD4-related neurodevelopmental syndrome Sifrim-Hitz-Weiss syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males). Orphanet ICD-10:Q87.8 OMIM:617159 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653712 CHD4-related neurodevelopmental disorder ORPHA:653712 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617159 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653722 Digenic Alport syndrome Clinical subtype ORPHA:653722 LGMD, type 28 LGMDR28 Limb-girdle, type 28R ICD-10:G71.0 OMIM:620375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 ORPHA:653725 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620375 E (Exact mapping: the two concepts are equivalent) Marsili syndrome ICD-10:G90.8 OMIM:147430 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653728 Congenital insensitivity to pain syndrome, Marsili type ORPHA:653728 ICD-10:G90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:147430 E (Exact mapping: the two concepts are equivalent) X-linked CID due to SASH3 deficiency ICD-10:D81.8 OMIM:301082 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653751 X-linked combined immunodeficiency due to SASH3 deficiency ORPHA:653751 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:301082 E (Exact mapping: the two concepts are equivalent) Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome JDVS A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability and/or developmental delay, speech delay, behavioral problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomitting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, hypotonia and broad-based gait. Orphanet ICD-10:Q87.0 OMIM:617450 UMLS:C4479517 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653767 Jansen-de Vries syndrome ORPHA:653767 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617450 E (Exact mapping: the two concepts are equivalent) UMLS:C4479517 E (Exact mapping: the two concepts are equivalent) Crotonase deficiency ECHS1D ICD-10:E71.1 OMIM:616277 UMLS:C4225391 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ORPHA:653880 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616277 E (Exact mapping: the two concepts are equivalent) UMLS:C4225391 E (Exact mapping: the two concepts are equivalent) 14q11.2 KIAA1056 KIAA1762 ZFH-5 Ensembl:ENSG00000136367 HGNC:20152 OMIM:617828 SwissProt:Q9C0A1 ZFHX2 zinc finger homeobox 2 Renal embryonic tumor Wilms tumor A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor. Orphanet ICD-10:C64 ICD-11:2C90.Y MeSH:D009396 MedDRA:10029145 OMIM:194070 OMIM:194071 OMIM:194090 OMIM:601363 OMIM:601583 OMIM:616806 UMLS:C0027708 Autosomal dominant Not applicable Childhood Austria AND has_annual_incidence_average_value : 0.121 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.195 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.072 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.155 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.139 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_lifetime_prevalence_average_value : 3.65 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.158 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.157 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.176 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.131 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.111 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.066 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.162 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.144 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.113 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.144 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=654 Nephroblastoma ORPHA:654 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009396 E (Exact mapping: the two concepts are equivalent) MedDRA:10029145 E (Exact mapping: the two concepts are equivalent) OMIM:194070 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:194071 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:194090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601363 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601583 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616806 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0027708 E (Exact mapping: the two concepts are equivalent) A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset. Orphanet ICD-10:Q61.5 ICD-11:GB83 OMIM:256100 OMIM:602088 OMIM:604387 OMIM:606966 OMIM:611498 OMIM:613159 OMIM:613820 OMIM:613824 OMIM:614377 OMIM:615382 OMIM:615862 OMIM:617271 UMLS:C0687120 Autosomal recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown Finland AND has_birth_prevalence_average_value : 1.25 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=655 Nephronophthisis ORPHA:655 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB83 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:256100 E (Exact mapping: the two concepts are equivalent) OMIM:602088 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604387 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606966 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611498 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613159 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613820 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613824 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614377 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615382 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615862 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617271 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0687120 E (Exact mapping: the two concepts are equivalent) Familial idiopathic steroid-resistant nephrotic syndrome Genetic FSGS Genetic SRNS Hereditary SRNS Isolated SRNS Monogenic SRNS A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Orphanet ICD-10:N04.1 ICD-10:N04.3 ICD-10:N04.8 ICD-11:GB41 OMIM:256370 OMIM:301028 OMIM:600995 OMIM:603278 OMIM:603965 OMIM:607832 OMIM:610725 OMIM:612551 OMIM:613237 OMIM:614131 OMIM:614196 OMIM:615244 OMIM:615573 OMIM:615861 OMIM:616002 OMIM:616032 OMIM:616220 OMIM:616730 OMIM:616892 OMIM:616893 OMIM:618176 OMIM:618177 OMIM:618178 OMIM:619155 OMIM:619201 UMLS:C4273714 Autosomal dominant Autosomal recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656 Hereditary steroid-resistant nephrotic syndrome ORPHA:656 ICD-10:N04.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:N04.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:N04.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:256370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301028 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600995 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603278 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603965 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607832 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610725 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612551 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613237 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614131 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614196 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615244 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615573 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615861 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:616002 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616032 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616730 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616892 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616893 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618176 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618177 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618178 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619155 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619201 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4273714 E (Exact mapping: the two concepts are equivalent) Degos disease Köhlmeier-Degos disease ICD-10:I77.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656071 Atrophic papulosis ORPHA:656071 ICD-10:I77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). BAP https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656085 Benign atrophic papulosis Clinical subtype ORPHA:656085 SSD ICD-10:Q76.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656126 Segmental spinal dysgenesis ORPHA:656126 ICD-10:Q76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). PBX1-related syndromic CAKUT ICD-10:Q87.8 OMIM:617641 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome ORPHA:656130 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617641 E (Exact mapping: the two concepts are equivalent) Snijders Blok-Fisher syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients. Orphanet ICD-10:Q87.0 OMIM:618604 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656135 Intellectual disability-cupped ears syndrome ORPHA:656135 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618604 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HIDEA syndrome OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome ORPHA:656273 ICD-10:Q92.3 OMIM:618815 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656279 1p36.33 duplication syndrome ORPHA:656279 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618815 E (Exact mapping: the two concepts are equivalent) AR CID due to complete GP130 deficiency AR CID due to complete IL6ST deficiency Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency Stüve-Wiedemann syndrome type 2 ICD-10:D82.4 OMIM:619751 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency ORPHA:656283 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619751 E (Exact mapping: the two concepts are equivalent) AR CID due to partial GP130 deficiency AR CID due to partial IL6ST deficiency Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency ICD-10:D82.4 OMIM:618523 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency ORPHA:656300 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618523 E (Exact mapping: the two concepts are equivalent) AD CID due to partial GP130 deficiency AD CID due to partial IL6ST deficiency Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency ICD-10:D82.4 OMIM:619752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency ORPHA:656313 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619752 E (Exact mapping: the two concepts are equivalent) AR CID due to IL6R deficiency Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency ICD-10:D82.4 OMIM:618944 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency ORPHA:656326 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618944 E (Exact mapping: the two concepts are equivalent) ETMR A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a <i>DICER1</i> mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life. Orphanet ICD-10:C22.7 ICD-11:XH0KZ2 UMLS:C5575350 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656417 Embryonal tumor with multilayered rosettes ORPHA:656417 ICD-10:C22.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:XH0KZ2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5575350 E (Exact mapping: the two concepts are equivalent) A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever. Orphanet ICD-10:Q52.0 ICD-11:LB42.5 MedDRA:10046879 UMLS:C1321884 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65681 Vaginal atresia ORPHA:65681 ICD-10:Q52.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB42.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10046879 E (Exact mapping: the two concepts are equivalent) UMLS:C1321884 E (Exact mapping: the two concepts are equivalent) BRIC Summerskill-Walshe-Tygstrup syndrome Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term). Orphanet ICD-10:K83.1 ICD-11:5C58.04 MedDRA:10087038 OMIM:243300 OMIM:605479 UMLS:C0149841 Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65682 Benign recurrent intrahepatic cholestasis ORPHA:65682 ICD-10:K83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10087038 E (Exact mapping: the two concepts are equivalent) OMIM:243300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605479 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0149841 E (Exact mapping: the two concepts are equivalent) Epilepsy due to FCD Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. Orphanet ICD-10:Q04.8 ICD-11:LA05.51 OMIM:607341 UMLS:C4707795 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65683 Isolated focal cortical dysplasia ORPHA:65683 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607341 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707795 E (Exact mapping: the two concepts are equivalent) Benign focal amyotrophy Hirayama disease JMADUE Juvenile muscular atrophy of distal upper extremity Juvenile muscular atrophy of the distal upper limb Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. Orphanet ICD-10:G12.8 ICD-11:8B60.6 MeSH:C538253 MedDRA:10069681 OMIM:602440 UMLS:C1865384 Unknown Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65684 Monomelic amyotrophy ORPHA:65684 ICD-10:G12.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B60.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538253 E (Exact mapping: the two concepts are equivalent) MedDRA:10069681 E (Exact mapping: the two concepts are equivalent) OMIM:602440 E (Exact mapping: the two concepts are equivalent) UMLS:C1865384 E (Exact mapping: the two concepts are equivalent) AD-CID due to ERBIN deficiency Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency ICD-10:D82.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency ORPHA:656912 ICD-10:D82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). PHHI Persistent hyperinsulinemic hypoglycemia of infancy A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients. Orphanet MeSH:D044903 UMLS:C3888018 Autosomal dominant Autosomal recessive Childhood Infancy Neonatal China AND has_point_prevalence_average_value : 23.2 AND has_point_prevalence_range : 1-5 / 10 000 Czech Republic AND has_birth_prevalence_average_value : 2.24 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 5.25 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 3.52 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 3.67 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=657 Congenital isolated hyperinsulinism Clinical group ORPHA:657 MeSH:D044903 E (Exact mapping: the two concepts are equivalent) UMLS:C3888018 E (Exact mapping: the two concepts are equivalent) Distal arthrogryposis type 4 Distal arthrogryposis type IID Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MeSH:C563791 OMIM:609128 UMLS:C1836756 Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65720 Arthrogryposis-severe scoliosis syndrome ORPHA:65720 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563791 E (Exact mapping: the two concepts are equivalent) OMIM:609128 E (Exact mapping: the two concepts are equivalent) UMLS:C1836756 E (Exact mapping: the two concepts are equivalent) Distal arthrogryposis type 8 A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. Orphanet ICD-10:Q79.8 ICD-11:LD26.40 MeSH:C566739 OMIM:178110 UMLS:C1867440 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65743 Autosomal dominant multiple pterygium syndrome ORPHA:65743 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566739 E (Exact mapping: the two concepts are equivalent) OMIM:178110 E (Exact mapping: the two concepts are equivalent) UMLS:C1867440 E (Exact mapping: the two concepts are equivalent) Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type Ferguson-Smith disease MSSE Multiple keratoacanthoma, Ferguson-Smith type Self-healing squamous epithelioma type 1 Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. Orphanet ICD-10:D48.5 ICD-11:2C31.1 OMIM:132800 UMLS:C0546476 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65748 Multiple self-healing squamous epithelioma ORPHA:65748 ICD-10:D48.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:132800 E (Exact mapping: the two concepts are equivalent) UMLS:C0546476 E (Exact mapping: the two concepts are equivalent) Autosomal dominant demyelinating Charcot-Marie-Tooth disease CMT1 Charcot-Marie-Tooth neuropathy type 1 Hereditary motor and sensory neuropathy type 1 Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. Orphanet ICD-11:8C20.0 UMLS:C0751036 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_average_value : 17.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65753 Charcot-Marie-Tooth disease type 1 Clinical group ORPHA:65753 ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0751036 E (Exact mapping: the two concepts are equivalent) ACPS2 Acrocephalopolysyndactyly type 2 A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Orphanet ICD-10:Q87.0 ICD-11:LD24.GY MeSH:C563187 MedDRA:10081310 OMIM:201000 OMIM:614976 UMLS:C1275078 Autosomal recessive Antenatal Childhood Neonatal Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=65759 Carpenter syndrome ORPHA:65759 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563187 E (Exact mapping: the two concepts are equivalent) MedDRA:10081310 E (Exact mapping: the two concepts are equivalent) OMIM:201000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614976 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1275078 E (Exact mapping: the two concepts are equivalent) ACPS4 Acrocephalopolysyndactyly type 4 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Carpenter syndrome ICD-10:Q87.0 OMIM:201020 UMLS:C0265303 Goodman syndrome ORPHA:65798 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:201020 E (Exact mapping: the two concepts are equivalent) UMLS:C0265303 E (Exact mapping: the two concepts are equivalent) Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Orphanet Autosomal dominant Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658 Non-histaminic angioedema Clinical group ORPHA:658 ICD-10:Q93.5 OMIM:614541 UMLS:C3281152 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658540 16q22 deletion syndrome ORPHA:658540 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614541 E (Exact mapping: the two concepts are equivalent) UMLS:C3281152 E (Exact mapping: the two concepts are equivalent) Idiopathic-SFN ICD-10:G90.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658549 Idiopathic small fibers neuropathy ORPHA:658549 ICD-10:G90.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Isolated anomalous left pulmonary artery Isolated left pulmonary artery sling LPA PAS ICD-10:Q25.7 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658574 Isolated pulmonary artery sling ORPHA:658574 ICD-10:Q25.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M32.8 UMLS:C0406637 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658584 Rowell syndrome ORPHA:658584 ICD-10:M32.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0406637 E (Exact mapping: the two concepts are equivalent) ICD-10:D04.1 ICD-11:2C33 UMLS:C4525405 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658590 Eyelid sebaceous carcinoma ORPHA:658590 ICD-10:D04.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C33 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4525405 E (Exact mapping: the two concepts are equivalent) HESJAS Heyn-Sproul-Jackson syndrome Microcephaly-short stature-intellectual disability syndrome ICD-10:Q87.1 OMIM:618724 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658595 DNMT3A-related microcephalic dwarfism ORPHA:658595 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618724 E (Exact mapping: the two concepts are equivalent) BOS Bronchiolitis obliterans syndrome ICD-10:Y83.0 UMLS:C5574736 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658602 Transplant-related bronchiolitis obliterans ORPHA:658602 ICD-10:Y83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5574736 E (Exact mapping: the two concepts are equivalent) ICD-10:J44.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658612 Non-transplant-related bronchiolitis obliterans ORPHA:658612 ICD-10:J44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G60.0 OMIM:620402 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658778 COQ7-related distal hereditary motor neuropathy ORPHA:658778 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620402 E (Exact mapping: the two concepts are equivalent) GCP-CGS ICD-10:Q87.0 OMIM:175700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658805 Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:175700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) ICD-10:L90.3 ICD-11:EE7Y UMLS:C3887897 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658810 Atrophoderma of Pasini and Pierini ORPHA:658810 ICD-10:L90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EE7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3887897 E (Exact mapping: the two concepts are equivalent) CIMAH Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia Methylenetetrahydrofolate dehydrogenase 1 deficiency ICD-10:D81.8 OMIM:617780 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency ORPHA:658813 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617780 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.0 OMIM:617330 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome ORPHA:658843 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617330 E (Exact mapping: the two concepts are equivalent) A rare parasitic disease characterized by infection with the intestinal parasitic flatworm <i>Fasciolopsis buski</i> by ingestion of metacercariae via undercooked contaminated aquatic plants or contaminated water. Adult worms are the largest flukes infecting humans and attach to and ulcerate the mucosa of the proximal small bowel. Patients may be asymptomatic or present abdominal pain, vomiting, diarrhea, and signs of malabsorption, potentially also intestinal obstruction, 30 to 60&nbsp;days after exposure. Peripheral eosinophilia may be observed. Severe malabsorption may lead to edema and ascites due to protein loss. Orphanet ICD-10:B66.5 ICD-11:1F83 UMLS:C0015656 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658909 Fasciolopsiasis ORPHA:658909 ICD-10:B66.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F83 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0015656 E (Exact mapping: the two concepts are equivalent) A rare parasitic disease characterized by infection with various species of the trematode genus <i>Paragonimus</i> through ingestion of contaminated crabs or crayfish. Infection occurs primarily in the lungs and pleura of affected individuals, presenting with a pulmonary disease resembling tuberculosis (including chest pain, cough, and hemoptysis). The parasite also frequently invades other organs, including the brain, spinal cord, and abdominal organs, and causes respective signs and symptoms. Orphanet ICD-10:B66.4 ICD-11:1F85 UMLS:C0030424 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658913 Paragonimiasis ORPHA:658913 ICD-10:B66.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F85 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0030424 E (Exact mapping: the two concepts are equivalent) A rare parasitic disease characterized by infection with the trematode <i>Clonorchis sinensis</i> (Chinese or oriental liver fluke) through ingestion of metacercarial cysts via infected raw or undercooked fish. Clinical symptoms are related to worm burden. Most acute infections are asymptomatic or present with mild abdominal symptoms. Patients with high worm burdens experience fever, headache, right upper-quadrant abdominal pain, and intermittent colic pain caused by the worms obstructing the gallbladder. Chronic infections are usually severe, resulting in fibrosis of small bile ducts and destruction of the adjacent liver parenchyma, and strongly associated with cholangiocarcinoma. Orphanet ICD-10:B66.1 ICD-11:1F80 UMLS:C0009021 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658917 Clonorchiasis ORPHA:658917 ICD-10:B66.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F80 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0009021 E (Exact mapping: the two concepts are equivalent) Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency ICD-10:D89.8 OMIM:301109 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency ORPHA:658946 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:301109 BTNT (ORPHAcode is broader than the targeted code used to represent it) Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency ICD-10:D89.8 OMIM:301109 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=658951 Early-onset immune dysregulation due to DOCK11 complete deficiency ORPHA:658951 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:301109 BTNT (ORPHAcode is broader than the targeted code used to represent it) Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques Olmsted syndrome Palmoplantar and periorificial keratoderma A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 MedDRA:10068842 OMIM:300918 OMIM:614594 OMIM:619208 UMLS:C0406761 Autosomal dominant Not applicable X-linked recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 73.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques ORPHA:659 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10068842 E (Exact mapping: the two concepts are equivalent) OMIM:300918 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614594 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619208 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0406761 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659387 PRC-2 complex-related overgrowth spectrum Clinical group ORPHA:659387 EED-related overgrowth syndrome ICD-10:Q87.3 OMIM:617561 UMLS:C4479654 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659396 Cohen-Gibson syndrome ORPHA:659396 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617561 E (Exact mapping: the two concepts are equivalent) UMLS:C4479654 E (Exact mapping: the two concepts are equivalent) SUZ12-related overgrowth syndrome ICD-10:Q87.3 OMIM:618786 UMLS:C5394073 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659463 Imagawa-Matsumoto syndrome ORPHA:659463 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618786 E (Exact mapping: the two concepts are equivalent) UMLS:C5394073 E (Exact mapping: the two concepts are equivalent) RAC3-related syndrome ICD-10:Q04.8 OMIM:618577 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome ORPHA:659609 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618577 E (Exact mapping: the two concepts are equivalent) Isolated single optic neuritis SION https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659626 Single isolated optic neuritis Clinical subtype ORPHA:659626 Isolated relapsing optic neuritis Isolated relapsing optic neuropathy RION https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659634 Relapsing isolated optic neuritis Clinical subtype ORPHA:659634 NSD2-related syndrome OMIM:619695 UMLS:C5562061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659642 Rauch-Steindl syndrome ORPHA:659642 OMIM:619695 E (Exact mapping: the two concepts are equivalent) UMLS:C5562061 E (Exact mapping: the two concepts are equivalent) ICD-10:E80.2 ICD-11:5C58.1Y OMIM:618892 UMLS:C0342859 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659672 Harderoporphyria ORPHA:659672 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:618892 E (Exact mapping: the two concepts are equivalent) UMLS:C0342859 E (Exact mapping: the two concepts are equivalent) EPP https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659681 Erythropoietic porphyria Clinical group ORPHA:659681 UMLS:C0162533 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659694 Hepatic porphyria Clinical group ORPHA:659694 UMLS:C0162533 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659698 Hepatic cutaneous porphyria Clinical group ORPHA:659698 ARCN1-related syndrome ICD-10:Q87.1 OMIM:617164 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome ORPHA:659702 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617164 E (Exact mapping: the two concepts are equivalent) Y. pseudotuberculosis infection ICD-10:A28.2 ICD-11:1B9A UMLS:C0043410 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659707 Yersinia pseudotuberculosis infection ORPHA:659707 ICD-10:A28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1B9A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0043410 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659712 Rare yersiniosis Category ORPHA:659712 OSSN ICD-10:D48.7 UMLS:C4761284 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659744 Ocular surface squamous neoplasia ORPHA:659744 ICD-10:D48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4761284 E (Exact mapping: the two concepts are equivalent) A rare bacterial infectious disease characterized by severe acute hemolytic anemia, fever, malaise, myalgia, headache, tachycardia, jaundice, and hepatomegaly occurring around 60 days after the bite of a sand fly infected with <i>Bartonella bacilliformis</i>. Complications are common and include secondary infections and cardiovascular and neurological problems. Fatality rates are high without antimicrobial intervention. Orphanet ICD-10:A44.0 ICD-11:1C11.00 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659756 Oroya fever Clinical subtype ORPHA:659756 ICD-10:A44.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1C11.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Peruvian warts A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with <i>Bartonella bacilliformis</i>. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. Orphanet ICD-10:A44.1 ICD-11:1C11.01 UMLS:C0042552 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659759 Verruga peruana Clinical subtype ORPHA:659759 ICD-10:A44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1C11.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0042552 E (Exact mapping: the two concepts are equivalent) LEMD2-associated nuclear envelopathy with early progeroid appearance Marbach-Rustad progeroid syndrome ICD-10:Q87.5 OMIM:619322 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome ORPHA:659873 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619322 E (Exact mapping: the two concepts are equivalent) PRR12-related neuroocular syndrome ICD-10:Q87.8 OMIM:619539 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619539 E (Exact mapping: the two concepts are equivalent) Burkholderia mallei infection Equinia Malleus ICD-10:A24.0 UMLS:C0017589 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659908 Glanders ORPHA:659908 ICD-10:A24.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). UMLS:C0017589 E (Exact mapping: the two concepts are equivalent) Neurodevelopmental disorder with hearing loss and spastic quadriplegia Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome ICD-10:H91.8 OMIM:619616 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome ORPHA:659975 ICD-10:H91.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619616 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. Orphanet ICD-10:Q79.2 ICD-11:LB01 MeSH:D006554 MedDRA:10030308 OMIM:164750 OMIM:310980 UMLS:C0795690 Not applicable Antenatal Austria AND has_birth_prevalence_average_value : 19.6 AND has_birth_prevalence_range : 1-5 / 10 000 Austria AND has_point_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_point_prevalence_range : 1-5 / 10 000 China AND has_birth_prevalence_average_value : 15.2 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 10.9 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_point_prevalence_range : 1-5 / 10 000 Czech Republic AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Czech Republic AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 19.8 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 13.6 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 25.3 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 48.2 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_point_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 22.9 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 11.2 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 12.1 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 6.9 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.3 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_point_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 18.6 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=660 Omphalocele ORPHA:660 ICD-10:Q79.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006554 E (Exact mapping: the two concepts are equivalent) MedDRA:10030308 E (Exact mapping: the two concepts are equivalent) OMIM:164750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:310980 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0795690 E (Exact mapping: the two concepts are equivalent) NR4A2-related neurodevelopmental syndrome OMIM:619911 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation Etiological subtype ORPHA:660012 OMIM:619911 E (Exact mapping: the two concepts are equivalent) ICD-10:G24.1 OMIM:619911 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome ORPHA:660017 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619911 BTNT (ORPHAcode is broader than the targeted code used to represent it) AMOTL1-related syndrome ICD-10:Q87.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). 11q24.3 KIAA1231 MGC131802 PFM7 PR-domain family member 7 PRDM zinc finger transcription factor tristanin Ensembl:ENSG00000170325 HGNC:13995 OMIM:618319 SwissProt:Q9NQV6 PRDM10 PR/SET domain 10 Ornithosis Parrot disease Parrot fever ICD-10:A70 UMLS:C0029291 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=660053 Psittacosis ORPHA:660053 ICD-10:A70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). UMLS:C0029291 E (Exact mapping: the two concepts are equivalent) 11q21 JEAP junction-enriched and associated protein Ensembl:ENSG00000166025 HGNC:17811 OMIM:614657 SwissProt:Q8IY63 AMOTL1 angiomotin like 1 CCHS Congenital central alveolar hypoventilation syndrome Ondine curse Ondine syndrome Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. Orphanet ICD-10:G47.3 ICD-11:7A42.1 MeSH:C536209 MedDRA:10066131 OMIM:209880 OMIM:619482 OMIM:619483 UMLS:C1275808 Autosomal dominant Not applicable Infancy Neonatal France AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=661 Congenital central hypoventilation syndrome ORPHA:661 ICD-10:G47.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:7A42.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536209 E (Exact mapping: the two concepts are equivalent) MedDRA:10066131 E (Exact mapping: the two concepts are equivalent) OMIM:209880 E (Exact mapping: the two concepts are equivalent) OMIM:619482 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619483 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1275808 E (Exact mapping: the two concepts are equivalent) ICD-10:D52.8 OMIM:601775 OMIM:620603 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency ORPHA:661412 ICD-10:D52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601775 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620603 BTNT (ORPHAcode is broader than the targeted code used to represent it) ICD-10:C18.8 OMIM:619975 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=661526 MBD4-related tumor predisposition syndrome ORPHA:661526 ICD-10:C18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619975 E (Exact mapping: the two concepts are equivalent) YNS Yellow nail syndrome A rare, syndromic nail anomaly disease characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. Orphanet ICD-10:L60.5 ICD-11:EE11.1 MeSH:D056684 MedDRA:10048244 OMIM:153300 UMLS:C0221348 Adult Childhood Neonatal Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662 Lymphedema with yellow nails ORPHA:662 ICD-10:L60.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE11.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D056684 E (Exact mapping: the two concepts are equivalent) MedDRA:10048244 E (Exact mapping: the two concepts are equivalent) OMIM:153300 E (Exact mapping: the two concepts are equivalent) UMLS:C0221348 E (Exact mapping: the two concepts are equivalent) 22q13.3 deletion Chromosome 22q13.3 deletion syndrome ICD-10:Q93.5 ICD-11:LD44.NY OMIM:606232 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662169 Phelan-McDermid syndrome due to 22q13.3 deletion Etiological subtype ORPHA:662169 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.NY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606232 NTBT (ORPHAcode is narrower than the targeted code used to represent it) ICD-10:Q93.5 ICD-11:LD44.NY OMIM:606232 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662172 Phelan-McDermid syndrome due to SHANK3 mutation Etiological subtype ORPHA:662172 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.NY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606232 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Nabais Sa-de Vries type 2 syndrome ICD-10:Q87.0 OMIM:618829 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome ORPHA:662175 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618829 E (Exact mapping: the two concepts are equivalent) Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome Nabais Sa-de Vries type 1 syndrome ICD-10:Q87.0 OMIM:618828 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618828 E (Exact mapping: the two concepts are equivalent) INPP5K-related syndrome ICD-10:G71.0 OMIM:617404 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome ORPHA:662184 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617404 E (Exact mapping: the two concepts are equivalent) HNRNPR-related neurodevelopmental disorder ICD-10:Q87.0 OMIM:620073 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome ORPHA:662189 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620073 E (Exact mapping: the two concepts are equivalent) 14q11.2 Ensembl:ENSG00000092199 HGNC:5035 OMIM:164020 SwissProt:P07910 HNRNPC heterogeneous nuclear ribonucleoprotein C HNRNPH2-Related Neurodevelopmental Disorder ICD-10:Q87.5 OMIM:300986 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome ORPHA:662198 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300986 E (Exact mapping: the two concepts are equivalent) HNRPH1-related neurodevelopmental disorder Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects ICD-10:Q87.8 OMIM:620083 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome ORPHA:662207 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620083 E (Exact mapping: the two concepts are equivalent) Mucopolysaccharidosis type X, MSP type X,MPS10 Mucopolysaccharidosis due to ARSK deficiency ICD-10:E76.2 ICD-11:5C56.3Y OMIM:619698 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662216 Mucopolysaccharidosis type 10 ORPHA:662216 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619698 E (Exact mapping: the two concepts are equivalent) 5q15 DKFZp313G1735 TSULF Ensembl:ENSG00000164291 HGNC:25239 OMIM:610011 SwissProt:Q6UWY0 ARSK arylsulfatase family member K Hippocampal memory defect leukoencephalopathy White matter hyperintensities-Episodic memory defect leukoencephalopathy ICD-10:G93.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662229 Episodic memory defect leukoencephalopathy ORPHA:662229 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Radio-Tartaglia syndrome SPEN-related neurodevelopmental disorder ICD-10:Q87.8 OMIM:619312 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome ORPHA:662234 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619312 E (Exact mapping: the two concepts are equivalent) Auriculo-temporal syndrome Auriculotemporal syndrome Baillarger syndrome Dupuy syndrome Gustatory hyperhidrosis ICD-10:G50.8 ICD-11:8B82.Z MeSH:D013547 UMLS:C0162473 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662240 Frey syndrome ORPHA:662240 ICD-10:G50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:8B82.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013547 E (Exact mapping: the two concepts are equivalent) UMLS:C0162473 E (Exact mapping: the two concepts are equivalent) Atlantoaxial non-traumatic subluxation ICD-10:M43.8 UMLS:C0263885 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662255 Grisel syndrome ORPHA:662255 ICD-10:M43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0263885 E (Exact mapping: the two concepts are equivalent) Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome ICD-10:G93.8 OMIM:614255 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662367 NESCAV syndrome ORPHA:662367 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614255 E (Exact mapping: the two concepts are equivalent) Stomach duplication ICD-10:Q40.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662376 Gastric duplication ORPHA:662376 ICD-10:Q40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:Q44.1 ICD-11:LB20.1Y https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662388 Gallbladder duplication ORPHA:662388 ICD-10:Q44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB20.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Duplication of the colon ICD-10:Q43.4 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662392 Colonic duplication ORPHA:662392 ICD-10:Q43.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Congenital double pylorus Duplication cyst of the pyloric canal Duplication cyst of the pylorus ICD-10:Q40.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662405 Pyloric duplication ORPHA:662405 ICD-10:Q40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Small bowel duplication ICD-10:Q43.4 ICD-11:LB15.Y https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662456 Small intestine duplication ORPHA:662456 ICD-10:Q43.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB15.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:Q43.4 ICD-11:LB14 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662473 Duodenal duplication Clinical subtype ORPHA:662473 ICD-10:Q43.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662480 Jejuno-ileal duplication Clinical subtype ORPHA:662480 AIP Abnormally invasive placenta PAI PAS Placenta accreta spectrum A rare disorder related with pregnancy characterized by an abnormally invasive placenta that fails to detach spontanously from the uterine wall during delivery. Placenta that partially or totally attached to uterine wall, risk to cause massive and life-threatening bleeding if forced to remove. Prenatal diagnosis is essential, however difficult, to reduce maternal and fetal morbidity. Major risk factors are uterine surgery and uterine scar secondary to cesarean delivery. Orphanet ICD-10:O43.2 ICD-11:JA8A.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662721 Placenta accreta spectrum disorder ORPHA:662721 ICD-10:O43.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:JA8A.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ARPC4-related syndrome ICD-10:Q87.0 OMIM:620141 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome ORPHA:662762 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620141 E (Exact mapping: the two concepts are equivalent) ICD-10:O69.4 ICD-10:P02.6 ICD-10:P50.0 ICD-11:JB08.3 ICD-11:KA03.3 ICD-11:KA80.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662786 Vasa previa ORPHA:662786 ICD-10:O69.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:P02.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:P50.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JB08.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA03.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA80.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q87.0 OMIM:618092 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome ORPHA:662829 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618092 E (Exact mapping: the two concepts are equivalent) AMKL in adult AML M7 in adult Acute megakaryocytic leukemia in adult Acute myeloid leukemia M7 in adult https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=662934 Acute megakaryoblastic leukemia in adult Clinical subtype ORPHA:662934 Maternally-inherited CPEO Maternally-inherited chronic progressive external ophthalmoplegia mtDNA-related progressive external ophthalmoplegia ICD-10:H49.4 ICD-11:9C82.0 UMLS:C0162674 Mitochondrial inheritance Not applicable Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=663 Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663 ICD-10:H49.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9C82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0162674 E (Exact mapping: the two concepts are equivalent) 3p25.3 ARC20 Arp2/3 protein complex subunit p20 actin related protein 2/3 complex, subunit 4 (20 kD) p20-Arc Ensembl:ENSG00000241553 HGNC:707 OMIM:604226 SwissProt:P59998 ARPC4 actin related protein 2/3 complex subunit 4 20q12 CHD5 FLJ22369 KIAA1335 RIGB dJ620E11.1 Ensembl:ENSG00000124177 HGNC:19057 OMIM:616114 SwissProt:Q8TD26 CHD6 chromodomain helicase DNA binding protein 6 6p25.2 DHQV DIA6 NRH:quinone oxidoreductase 2 QR2 quinone reductase 2 Ensembl:ENSG00000124588 HGNC:7856 OMIM:160998 SwissProt:P16083 NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 12q21.1 Kv3.2 Ensembl:ENSG00000166006 HGNC:6234 IUPHAR:549 OMIM:176256 SwissProt:Q96PR1 KCNC2 potassium voltage-gated channel subfamily C member 2 14q11.2 Ensembl:ENSG00000283654 HGNC:53647 OMIM:619703 SwissProt:A0A1B0GTW7 CIROP ciliated left-right organizer metallopeptidase 17q21.2 Stv1 V-ATPase subunit a1 Vph1 a1 vacuolar proton pump subunit 1 Ensembl:ENSG00000033627 HGNC:865 IUPHAR:823 OMIM:192130 SwissProt:Q93050 ATP6V0A1 ATPase H+ transporting V0 subunit a1 OCT deficiency OTC deficiency Ornithine carbamoyltransferase deficiency A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae. Orphanet ICD-10:E72.4 ICD-11:5C50.AY MeSH:D020163 MedDRA:10052450 OMIM:311250 UMLS:C0268542 X-linked recessive All ages Australia AND has_birth_prevalence_average_value : 1.29 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 0.88 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.77 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.77 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664 Ornithine transcarbamylase deficiency ORPHA:664 ICD-10:E72.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.AY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D020163 E (Exact mapping: the two concepts are equivalent) MedDRA:10052450 E (Exact mapping: the two concepts are equivalent) OMIM:311250 E (Exact mapping: the two concepts are equivalent) UMLS:C0268542 E (Exact mapping: the two concepts are equivalent) Combined form of soft and hard cleft palate Isolated cleft of the soft and hard palate ICD-10:Q35.5 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664372 Soft and hard cleft palate ORPHA:664372 ICD-10:Q35.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MGP-related SED Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome ICD-10:Q77.7 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664377 MGP-related spondyloepiphyseal dysplasia ORPHA:664377 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614980 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation Etiological subtype ORPHA:664401 OMIM:614980 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614980 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664404 6q25.1 microdeletion syndrome Etiological subtype ORPHA:664404 OMIM:614980 NTBT (ORPHAcode is narrower than the targeted code used to represent it) MEF2C-related syndrome Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language ICD-10:Q87.0 OMIM:613443 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome ORPHA:664410 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613443 E (Exact mapping: the two concepts are equivalent) OMIM:613443 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Etiological subtype ORPHA:664416 OMIM:613443 NTBT (ORPHAcode is narrower than the targeted code used to represent it) SLC4A10-related neurodevelopmental disorder ICD-10:Q04.8 OMIM:620746 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome ORPHA:664430 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620746 E (Exact mapping: the two concepts are equivalent) Liang-Wang syndrome ICD-10:Q87.0 OMIM:618729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618729 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664450 Inherited cancer-predisposing lymphoproliferative syndrome Category ORPHA:664450 Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Clinical group ORPHA:664456 Genetic HLH without hypopigmentation Genetic hemophagocytic lymphohistiocytosis without hypopigmentation Primary HLH without hypopigmentation https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664482 Primary hemophagocytic lymphohistiocytosis without hypopigmentation Category ORPHA:664482 HPS2 Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency Hermansky-Pudlak syndrome type 2 Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype ORPHA:664500 Early-onset severe Hermansky-Pudlak syndrome with deafness Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency HPS10 Hermansky-Pudlak syndrome type 10 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency Clinical subtype ORPHA:664511 Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency ICD-10:D82.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency ORPHA:664699 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency ICD-10:D82.3 OMIM:615559 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency ORPHA:664711 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615559 E (Exact mapping: the two concepts are equivalent) Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency ICD-10:D82.3 OMIM:620282 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664726 EBV-induced lymphoproliferative disease due to CD137 deficiency ORPHA:664726 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:620282 E (Exact mapping: the two concepts are equivalent) Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency ICD-10:D82.3 OMIM:619126 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664729 EBV-induced lymphoproliferative disease due to TET2 deficiency ORPHA:664729 ICD-10:D82.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:619126 E (Exact mapping: the two concepts are equivalent) Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature Clinical group ORPHA:664734 Embolia cutis medicamentosa Livedo-like dermatitis ICD-10:T80.1 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664787 Nicolau syndrome ORPHA:664787 ICD-10:T80.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). TTS Trigeminal neuropathy with nasal ulceration Trigeminal neurotrophic ulceration Trophic ulceration of the ala nasi ICD-10:G50.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664901 Trigeminal trophic syndrome ORPHA:664901 ICD-10:G50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). NRVT Neonatal RVT ICD-10:I82.8 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664912 Neonatal renal venous thrombosis ORPHA:664912 ICD-10:I82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). NEDMABA disorder Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies ICD-10:Q87.8 OMIM:618622 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:618622 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pseudohypoparathyroidism with Albright hereditary osteodystrophy UMLS:C2931404 Albright hereditary osteodystrophy ORPHA:665 UMLS:C2931404 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=665044 Common arterial trunk with aortic dominance Clinical subtype ORPHA:665044 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch Clinical subtype ORPHA:665058 A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. Orphanet ICD-10:E34.8 ICD-11:5A44 UMLS:C4303621 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66518 Short fifth metacarpals-insulin resistance syndrome ORPHA:66518 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303621 E (Exact mapping: the two concepts are equivalent) Ampulla cardiomyopathy Apical ballooning syndrome Ballooning cardiomyopathy Broken heart syndrome Stress cardiomyopathy Tako-Tsubo syndrome Takotsubo cardiomyopathy Takotsubo syndrome Transient left ventricular apical ballooning syndrome A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger; recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS). Orphanet ICD-10:I42.8 ICD-11:BC43.5 MeSH:D054549 MedDRA:10066286 UMLS:C1739395 Unknown All ages France AND has_annual_incidence_average_value : 2.98 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66529 Tako-Tsubo cardiomyopathy ORPHA:66529 ICD-10:I42.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054549 E (Exact mapping: the two concepts are equivalent) MedDRA:10066286 E (Exact mapping: the two concepts are equivalent) UMLS:C1739395 E (Exact mapping: the two concepts are equivalent) Brittle bone disease Glass bone disease Lobstein disease OI A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous. Orphanet ICD-10:Q78.0 ICD-11:LD24.K0 MeSH:D010013 MedDRA:10031243 OMIM:166200 OMIM:166210 OMIM:166220 OMIM:166230 OMIM:259420 OMIM:259440 OMIM:610682 OMIM:610915 OMIM:610967 OMIM:610968 OMIM:613848 OMIM:613849 OMIM:613982 OMIM:614856 OMIM:615066 OMIM:615220 OMIM:616229 OMIM:616507 OMIM:619131 OMIM:619795 UMLS:C0029434 Autosomal dominant Autosomal recessive X-linked recessive All ages China AND has_point_prevalence_average_value : 0.375 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Latin America AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.95 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 8.06 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=666 Osteogenesis imperfecta ORPHA:666 ICD-10:Q78.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.K0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010013 E (Exact mapping: the two concepts are equivalent) MedDRA:10031243 E (Exact mapping: the two concepts are equivalent) OMIM:166200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:166210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:166220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:166230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:259420 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:259440 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610682 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610915 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610967 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610968 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613848 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613849 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613982 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614856 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615066 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616229 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616507 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619131 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619795 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0029434 E (Exact mapping: the two concepts are equivalent) Pediatric autoimmune disorders associated with Streptococcus infections Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders. Orphanet ICD-10:G96.8 ICD-11:8E4A.0 MeSH:C537163 UMLS:C2931429 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66624 PANDAS ORPHA:66624 ICD-10:G96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537163 E (Exact mapping: the two concepts are equivalent) UMLS:C2931429 E (Exact mapping: the two concepts are equivalent) Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Orphanet ICD-10:Q87.0 ICD-11:LD20.Y MeSH:C565313 OMIM:605627 UMLS:C1854108 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66625 Cerebrooculonasal syndrome ORPHA:66625 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565313 E (Exact mapping: the two concepts are equivalent) OMIM:605627 E (Exact mapping: the two concepts are equivalent) UMLS:C1854108 E (Exact mapping: the two concepts are equivalent) Diffuse-type GCT Diffuse-type giant cell tumor Pigmented villonodular synovitis TGCT TSGCT A rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment. Orphanet ICD-10:M12.2 MeSH:D000070779 UMLS:C1318543 Not applicable Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66627 Tenosynovial giant cell tumor ORPHA:66627 ICD-10:M12.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000070779 E (Exact mapping: the two concepts are equivalent) UMLS:C1318543 E (Exact mapping: the two concepts are equivalent) Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. Orphanet ICD-10:E66.8 ICD-11:5B81.Y OMIM:614962 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66628 Obesity due to congenital leptin deficiency Etiological subtype ORPHA:66628 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614962 E (Exact mapping: the two concepts are equivalent) GOSHS Megacolon-microcephaly syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537279 OMIM:609460 UMLS:C1836123 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66629 Goldberg-Shprintzen megacolon syndrome ORPHA:66629 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537279 E (Exact mapping: the two concepts are equivalent) OMIM:609460 E (Exact mapping: the two concepts are equivalent) UMLS:C1836123 E (Exact mapping: the two concepts are equivalent) Congenital pseudarthrosis of the clavicle A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle. Orphanet ICD-10:Q74.0 ICD-11:LB72.Y MeSH:C562548 OMIM:118980 UMLS:C0265565 Not applicable Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66630 Congenital pseudoarthrosis of the clavicle ORPHA:66630 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562548 E (Exact mapping: the two concepts are equivalent) OMIM:118980 E (Exact mapping: the two concepts are equivalent) UMLS:C0265565 E (Exact mapping: the two concepts are equivalent) Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Orphanet ICD-10:Q82.8 ICD-11:LD27.2 MeSH:C537943 OMIM:609528 UMLS:C1836033 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66631 CEDNIK syndrome ORPHA:66631 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537943 E (Exact mapping: the two concepts are equivalent) OMIM:609528 E (Exact mapping: the two concepts are equivalent) UMLS:C1836033 E (Exact mapping: the two concepts are equivalent) Sensorineural deafness-early graying-essential tremor syndrome A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. Orphanet ICD-10:H90.3 ICD-11:LD2H.Y UMLS:C4510044 Autosomal dominant Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66633 Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4510044 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconic aciduria type 5 DCMA syndrome MGA5 Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C565706 OMIM:610198 UMLS:C1857776 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66634 Dilated cardiomyopathy with ataxia ORPHA:66634 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565706 E (Exact mapping: the two concepts are equivalent) OMIM:610198 E (Exact mapping: the two concepts are equivalent) UMLS:C1857776 E (Exact mapping: the two concepts are equivalent) DSD A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency. Orphanet ICD-10:Q78.8 ICD-11:LD24.5Y MeSH:C564305 OMIM:608022 UMLS:C1842691 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66637 Diaphanospondylodysostosis ORPHA:66637 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564305 E (Exact mapping: the two concepts are equivalent) OMIM:608022 E (Exact mapping: the two concepts are equivalent) UMLS:C1842691 E (Exact mapping: the two concepts are equivalent) A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. Orphanet ICD-11:2A21.1 MeSH:D034701 UMLS:C1136033 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66646 Cutaneous mastocytosis Clinical group ORPHA:66646 ICD-11:2A21.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D034701 E (Exact mapping: the two concepts are equivalent) UMLS:C1136033 E (Exact mapping: the two concepts are equivalent) Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase. Orphanet ICD-10:C96.2 ICD-11:2A21.2 MeSH:D012515 UMLS:C0036221 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66661 Mast cell sarcoma ORPHA:66661 ICD-10:C96.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A21.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012515 E (Exact mapping: the two concepts are equivalent) UMLS:C0036221 E (Exact mapping: the two concepts are equivalent) A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern. Orphanet ICD-10:C96.2 ICD-11:2A21.3 UMLS:C0272202 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=66662 Extracutaneous mastocytoma ORPHA:66662 ICD-10:C96.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A21.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0272202 E (Exact mapping: the two concepts are equivalent) Infantile malignant osteopetrosis A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Orphanet ICD-10:Q78.2 ICD-11:LD24.10 OMIM:259700 OMIM:259710 OMIM:611490 OMIM:615085 UMLS:C1318518 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=667 Autosomal recessive malignant osteopetrosis ORPHA:667 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:259700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:259710 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611490 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615085 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1318518 E (Exact mapping: the two concepts are equivalent) Isolated congenital distal femoral duplication ICD-10:Q74.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=667589 Isolated congenital femoral bifurcation ORPHA:667589 ICD-10:Q74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Breast implant-associated ALCL Seroma-associated ALCL ICD-10:C84.7 ICD-11:2A90.B ICD-11:XH05D8 MedDRA:10082495 UMLS:C4528210 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=667662 Breast implant-associated anaplastic large cell lymphoma ORPHA:667662 ICD-10:C84.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A90.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH05D8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10082495 E (Exact mapping: the two concepts are equivalent) UMLS:C4528210 E (Exact mapping: the two concepts are equivalent) Basal cell carcinoma of the buccal mucosa Basal cell carcinoma of the oral cavity IOBCC intramucosal basal cell carcinoma ICD-10:D00.0 ICD-11:2E60.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=667678 Intraoral basal cell carcinoma ORPHA:667678 ICD-10:D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2E60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Osteogenic sarcoma Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells. Orphanet ICD-10:C41.9 ICD-11:2B51 ICD-11:2B51.0 ICD-11:2B51.1 ICD-11:2B51.2 ICD-11:2B51.Y MeSH:D012516 MedDRA:10031291 OMIM:259500 UMLS:C0029463 Not applicable Childhood Europe AND has_annual_incidence_average_value : 0.23 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 3.17 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=668 Osteosarcoma ORPHA:668 ICD-10:C41.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B51.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B51.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B51.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B51.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012516 E (Exact mapping: the two concepts are equivalent) MedDRA:10031291 E (Exact mapping: the two concepts are equivalent) OMIM:259500 E (Exact mapping: the two concepts are equivalent) UMLS:C0029463 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Otopalatodigital syndrome spectrum disorder OBSOLETE: Otopalatodigital syndrome ORPHA:669 A parasitic disease caused by the protozoa, <i>Entamoeba histolytica</i>, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare. Orphanet ICD-10:A06.0 ICD-10:A06.1 ICD-10:A06.2 ICD-10:A06.3 ICD-10:A06.4 ICD-10:A06.5 ICD-10:A06.6 ICD-10:A06.7 ICD-10:A06.8 ICD-10:A06.9 ICD-11:1A36 ICD-11:1A36.0 ICD-11:1A36.00 ICD-11:1A36.01 ICD-11:1A36.10 MeSH:C531613 UMLS:C2930799 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67 Amoebiasis due to Entamoeba histolytica ORPHA:67 ICD-10:A06.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A06.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36.00 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36.01 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36.10 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C531613 E (Exact mapping: the two concepts are equivalent) UMLS:C2930799 E (Exact mapping: the two concepts are equivalent) Trichothiodystrophy type F Trichothiodystrophy-sun sensitivity syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy OMIM:601675 UMLS:C1866504 PIBIDS syndrome ORPHA:670 OMIM:601675 E (Exact mapping: the two concepts are equivalent) UMLS:C1866504 E (Exact mapping: the two concepts are equivalent) Autosomal dominant optic atrophy type 3 OPA3, autosomal dominant A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the <i>OPA3</i> gene (19q13.32). Orphanet ICD-10:H47.2 ICD-11:9C40.8 MeSH:C537128 OMIM:165300 UMLS:C1833809 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67036 Autosomal dominant optic atrophy and cataract ORPHA:67036 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537128 E (Exact mapping: the two concepts are equivalent) OMIM:165300 E (Exact mapping: the two concepts are equivalent) UMLS:C1833809 E (Exact mapping: the two concepts are equivalent) OBSOLETE: HNSCC OBSOLETE: Head and neck squamous cell carcinoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare otorhinolaryngologic tumor OBSOLETE: Squamous cell carcinoma of head and neck ORPHA:67037 B-CLL B-cell chronic lymphoid leukemia CLL CLL/SLL Chronic lymphocytic leukemia Small lymphocytic lymphoma B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades. Orphanet ICD-10:C91.1 ICD-11:2A82.0 MeSH:D015451 MedDRA:10008958 OMIM:109543 OMIM:151400 OMIM:609630 OMIM:612557 OMIM:612558 OMIM:612559 UMLS:C0023434 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_average_value : 48.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 7.05 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67038 B-cell chronic lymphocytic leukemia ORPHA:67038 ICD-10:C91.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A82.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015451 E (Exact mapping: the two concepts are equivalent) MedDRA:10008958 E (Exact mapping: the two concepts are equivalent) OMIM:109543 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:151400 E (Exact mapping: the two concepts are equivalent) OMIM:609630 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612557 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612558 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612559 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0023434 E (Exact mapping: the two concepts are equivalent) A rare oral disease characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region distal to the canines towards the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. Orphanet ICD-10:K00.4 ICD-11:DA07.3 UMLS:C3698531 Not applicable Childhood Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67039 Segmental odontomaxillary dysplasia ORPHA:67039 ICD-10:K00.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA07.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3698531 E (Exact mapping: the two concepts are equivalent) MPS9 MPSIX Mucopolysaccharidosis type 9 Mucopolysaccharidosis type IX A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate). Orphanet ICD-10:E76.2 ICD-11:5C56.3Y MeSH:C563209 OMIM:601492 UMLS:C1291490 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67041 Hyaluronidase deficiency ORPHA:67041 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563209 E (Exact mapping: the two concepts are equivalent) OMIM:601492 E (Exact mapping: the two concepts are equivalent) UMLS:C1291490 E (Exact mapping: the two concepts are equivalent) Autosomal dominant late-onset retinal degeneration LORD Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C565309 OMIM:605670 UMLS:C1854065 Autosomal dominant Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67042 Late-onset retinal degeneration ORPHA:67042 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565309 E (Exact mapping: the two concepts are equivalent) OMIM:605670 E (Exact mapping: the two concepts are equivalent) UMLS:C1854065 E (Exact mapping: the two concepts are equivalent) A rare corneal infection due to the protozoan <i>Acanthamoeba</i> that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly. Orphanet ICD-10:B60.1+ ICD-10:H19.2* ICD-11:1F50 MeSH:D015823 MedDRA:10069408 UMLS:C0000880 Not applicable All ages Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67043 Amoebic keratitis ORPHA:67043 ICD-10:B60.1+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:H19.2* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1F50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015823 E (Exact mapping: the two concepts are equivalent) MedDRA:10069408 E (Exact mapping: the two concepts are equivalent) UMLS:C0000880 E (Exact mapping: the two concepts are equivalent) Congenital dyserythropoietic anemia with thombocytopenia X-linked congenital dyserythropoietic anemia with thrombocytopenia XDAT Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. Orphanet ICD-10:D69.4 OMIM:300367 UMLS:C4302508 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67044 Thrombocytopenia with congenital dyserythropoietic anemia ORPHA:67044 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300367 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4302508 E (Exact mapping: the two concepts are equivalent) MRGH ICD-10:E23.0 ICD-11:LD90.Y MeSH:C564712 OMIM:300123 UMLS:C1848068 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67045 X-linked intellectual disability with isolated growth hormone deficiency Clinical subtype ORPHA:67045 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564712 E (Exact mapping: the two concepts are equivalent) OMIM:300123 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1848068 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconyl-CoA hydratase deficiency 3MG-CoA hydratase deficiency MGA1 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C562801 OMIM:250950 UMLS:C0342727 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67046 3-methylglutaconic aciduria type 1 ORPHA:67046 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562801 E (Exact mapping: the two concepts are equivalent) OMIM:250950 E (Exact mapping: the two concepts are equivalent) UMLS:C0342727 E (Exact mapping: the two concepts are equivalent) Autosomal recessive optic atrophy plus syndrome Autosomal recessive optic atrophy type 3 Costeff optic atrophy syndrome Costeff syndrome Infantile optic atrophy with chorea and spastic paraplegia MGA3 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C535311 OMIM:258501 UMLS:C0574084 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67047 3-methylglutaconic aciduria type 3 ORPHA:67047 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535311 E (Exact mapping: the two concepts are equivalent) OMIM:258501 E (Exact mapping: the two concepts are equivalent) UMLS:C0574084 E (Exact mapping: the two concepts are equivalent) MGA4 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C565393 OMIM:250951 UMLS:C1855126 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=67048 3-methylglutaconic aciduria type 4 ORPHA:67048 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565393 E (Exact mapping: the two concepts are equivalent) OMIM:250951 E (Exact mapping: the two concepts are equivalent) UMLS:C1855126 E (Exact mapping: the two concepts are equivalent) A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness. Orphanet ICD-11:EE7Y UMLS:C0263417 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=671 Primary cutis verticis gyrata Clinical group ORPHA:671 ICD-11:EE7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0263417 E (Exact mapping: the two concepts are equivalent) Hypothalamic hamartoblastoma syndrome Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:D054975 OMIM:146510 UMLS:C0265220 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=672 Pallister-Hall syndrome ORPHA:672 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054975 E (Exact mapping: the two concepts are equivalent) OMIM:146510 E (Exact mapping: the two concepts are equivalent) UMLS:C0265220 E (Exact mapping: the two concepts are equivalent) 19p13.13 ARSA-I TRC40 golgi to ER traffic 3 homolog (S. cerevisiae) transmembrane domain recognition complex, 40kDa Ensembl:ENSG00000198356 HGNC:752 OMIM:601913 SwissProt:O43681 GET3 guided entry of tail-anchored proteins factor 3, ATPase TCF12-related syndromic craniosynostosis ICD-10:Q87.0 OMIM:615314 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome ORPHA:672979 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615314 E (Exact mapping: the two concepts are equivalent) ZIC1-related syndromic craniosynostosis ICD-10:Q87.0 OMIM:616602 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome ORPHA:672985 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616602 E (Exact mapping: the two concepts are equivalent) A life-threatening parasitic disease caused by <i>Plasmodium</i> (<i>P. </i>) parasites that are transmitted by <i>Anophles</i> mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting. Orphanet ICD-10:B50.0 ICD-10:B50.8 ICD-10:B50.9 ICD-10:B51.0 ICD-10:B51.8 ICD-10:B51.9 ICD-10:B52.0 ICD-10:B52.8 ICD-10:B52.9 ICD-10:B53.0 ICD-10:B53.1 ICD-10:B53.8 ICD-10:B54 ICD-11:1F40 ICD-11:1F41 ICD-11:1F42 ICD-11:1F43 ICD-11:1F44 ICD-11:1F45 MeSH:D008288 MedDRA:10025487 OMIM:611162 UMLS:C0024530 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_annual_incidence_average_value : 0.52 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Denmark AND has_annual_incidence_average_value : 1.62 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 1.2 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 12.0 AND has_annual_incidence_range : 1-5 / 10 000 Greece AND has_annual_incidence_average_value : 0.68 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.75 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 0.84 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 1.54 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 1.84 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.62 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 1.44 AND has_annual_incidence_range : 1-9 / 100 000 Romania AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.28 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 1.88 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 2.38 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 73.0 AND has_annual_incidence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673 Malaria ORPHA:673 ICD-10:B50.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B50.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B50.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B51.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B51.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B51.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B52.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B52.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B52.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B53.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B53.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B53.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B54 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F40 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F41 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F42 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F43 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F44 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F45 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008288 E (Exact mapping: the two concepts are equivalent) MedDRA:10025487 E (Exact mapping: the two concepts are equivalent) OMIM:611162 E (Exact mapping: the two concepts are equivalent) UMLS:C0024530 E (Exact mapping: the two concepts are equivalent) Metastatic vascular neoplasm https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673466 Malignant vascular tumor Clinical group ORPHA:673466 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673470 Benign vascular tumor Clinical group ORPHA:673470 Intermediate tumors Locally aggressive tumors https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673473 Borderline vascular tumor Clinical group ORPHA:673473 IPEH Masson's hemangioma Masson's tumor Masson's vegetant intravascular hemangiendothelioma Reactive papillary endothelial hyperplasia Vegetant intravascular hemangioendothelioma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673525 Intravascular papillary endothelial hyperplasia ORPHA:673525 LCA Littoral cell angioma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673538 Littoral cell hemangioma of the spleen ORPHA:673538 Papillary capillary hemangioma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673543 Papillary hemangioma ORPHA:673543 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673556 Pseudomyogenic hemangioendothelioma ORPHA:673556 EAH Eccrine angiomatous nevus https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673568 Eccrine angiomatous hamartoma ORPHA:673568 Cutaneous reactive dermatoses RA RAE https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673574 Reactive angioendotheliomatosis ORPHA:673574 Juvenile pilocytic astrocytoma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673580 Classic pilocytic astrocytoma Clinical subtype ORPHA:673580 Anaplastic pilocytic astrocytoma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=673585 Pilocytic astrocytoma with histological features of anaplasia Clinical subtype ORPHA:673585 A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen. Orphanet ICD-10:Q45.3 ICD-11:LB21.2 MeSH:C536003 UMLS:C0266268 Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674 Accessory pancreas ORPHA:674 ICD-10:Q45.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB21.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536003 E (Exact mapping: the two concepts are equivalent) UMLS:C0266268 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674499 Proteoglycan-related bone disorder Category ORPHA:674499 Syndrome with congenital functional defect of phagocyte as a major feature Syndrome with constitutional functional phagocyte defect as a major feature https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674648 Syndrome with congenital phagocyte functional defect as a major feature Category ORPHA:674648 ACTB-AST OMIM:620475 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674653 Actinomyopathy-associated syndromic thrombocytopenia ORPHA:674653 OMIM:620475 E (Exact mapping: the two concepts are equivalent) 11q13.2 CGI-85 Histone-lysine N-methyltransferase Ensembl:ENSG00000110066 HGNC:24283 IUPHAR:2717 OMIM:610881 SwissProt:Q4FZB7 KMT5B lysine methyltransferase 5B Early-onset AID due to HA20 Early-onset autoinflammatory disorder due to HA20 Early-onset autoinflammatory syndrome associated with TNFAIP3 HA20-related monogenic Behcet-like disease OMIM:616744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency ORPHA:674762 OMIM:616744 E (Exact mapping: the two concepts are equivalent) Non-syndromic congenital functional defect of phagocytes Non-syndromic constitutional functional phagocyte defect https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674896 Non-syndromic congenital phagocyte functional defect Category ORPHA:674896 Isolated retinal arteriovenous aneurysm 3 RRH https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674924 Isolated retinal racemose hemangioma ORPHA:674924 PEVAC https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674930 Perifoveal exudative vascular anomalous complex ORPHA:674930 Atypical macular coloboma Congenital hypomelanotic freckle Paramacular albinotic spot syndrome Solitary hypopigmented nevus of the retinal pigment epithelium TM https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674935 Torpedo Maculopathy ORPHA:674935 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674943 Isolated angioid streaks ORPHA:674943 DUSN Unilateral wipe-out syndrome https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674947 Diffuse unilateral subacute neuroretinitis ORPHA:674947 MEWDS https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674953 Multiple evanescent white dot syndrome ORPHA:674953 SMACH Serous maculopathy due to aspecific choroidopathy https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674958 Stellate multiform amelanotic choroidopathy ORPHA:674958 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674965 Choroidal osteoma ORPHA:674965 BDUMP Paraneoplastic uveal melanocytic hyperplasia https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=674968 Bilateral diffuse uveal melanocytic proliferation disease ORPHA:674968 A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. Orphanet ICD-10:Q45.1 ICD-11:LB21.0 MeSH:C536376 MedDRA:10071757 OMIM:167750 UMLS:C0149955 Autosomal dominant Not applicable Infancy Neonatal Austria AND has_birth_prevalence_average_value : 29.4 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 7.9 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 17.1 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675 Annular pancreas ORPHA:675 ICD-10:Q45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536376 E (Exact mapping: the two concepts are equivalent) MedDRA:10071757 E (Exact mapping: the two concepts are equivalent) OMIM:167750 E (Exact mapping: the two concepts are equivalent) UMLS:C0149955 E (Exact mapping: the two concepts are equivalent) OMIM:620174 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675216 Spinocerebellar ataxia type 27B ORPHA:675216 OMIM:620174 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675359 Anastomosing haemangioma ORPHA:675359 HH THH Targetoid hemosiderotic hemangioma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675362 Hobnail hemangioma ORPHA:675362 MVH https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675369 Microvenular haemangioma ORPHA:675369 Large segmental hemangioma Segmental hemangioma of infancy https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675380 Isolated segmental infantile hemangioma ORPHA:675380 ALHE Angiolymphoid hyperplasia with eosinophilia EH https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675396 Epithelioid hemangioma ORPHA:675396 Cockett syndrome MTS https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675404 May-Thurner syndrome ORPHA:675404 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675597 Acquired elastotic haemangioma ORPHA:675597 INFLTR8 Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome OMIM:301078 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome ORPHA:675628 OMIM:301078 E (Exact mapping: the two concepts are equivalent) SCN-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to signal recognition protein 54 deficiency OMIM:618752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency ORPHA:675767 OMIM:618752 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN ORPHA:675782 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675814 Adenomatoid tumour of the pleura ORPHA:675814 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675822 Well-differentiated papillary mesothelial tumour of the pleura ORPHA:675822 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675833 Localized pleural mesothelioma Clinical subtype ORPHA:675833 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675837 Diffused pleural mesothelioma Clinical subtype ORPHA:675837 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675841 Pleural mesothelioma in situ Clinical subtype ORPHA:675841 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=675976 Adenomatoid tumour of the peritoneum ORPHA:675976 A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas. Orphanet ICD-10:K86.1 ICD-11:DC32.2 OMIM:167800 UMLS:C0238339 Autosomal dominant Adolescent Childhood Denmark AND has_point_prevalence_average_value : 0.57 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.43 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=676 Hereditary chronic pancreatitis ORPHA:676 ICD-10:K86.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DC32.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:167800 E (Exact mapping: the two concepts are equivalent) UMLS:C0238339 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=676030 Primary benign peritoneal tumor Category ORPHA:676030 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=676033 Well-differentiated papillary mesothelial tumour of the peritoneum ORPHA:676033 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=676036 Peritoneal mesothelioma in situ ORPHA:676036 OMIM:618806 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=676039 Combined immunodeficiency due to FOXN1 haploinsufficiency ORPHA:676039 OMIM:618806 E (Exact mapping: the two concepts are equivalent) DEX Deficiency in ELF4, X-linked X-AIDE X-linked autoinflammatory and immunodeficiency disease associated with ELF4 X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency OMIM:301074 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency ORPHA:676125 OMIM:301074 E (Exact mapping: the two concepts are equivalent) 19q13.32 AP-1 DKFZp686C0818 G0S3 GOS3 GOSB MGC42291 activator protein 1 oncogene FOS-B Ensembl:ENSG00000125740 HGNC:3797 OMIM:164772 SwissProt:P53539 FOSB FosB proto-oncogene, AP-1 transcription factor subunit Xq26.3 HNRNPG RNMX heterogeneous nuclear ribonucleoprotein G hnRNP-G Ensembl:ENSG00000147274 HGNC:9910 OMIM:300199 SwissProt:P38159 RBMX RNA binding motif protein X-linked A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. Orphanet ICD-10:C25.1 ICD-11:2C10.0 ICD-11:XH27L5 MeSH:C537162 MedDRA:10073367 UMLS:C0334489 Not applicable Adult Childhood Bulgaria AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.001 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=677 Pancreatoblastoma ORPHA:677 ICD-10:C25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH27L5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537162 E (Exact mapping: the two concepts are equivalent) MedDRA:10073367 E (Exact mapping: the two concepts are equivalent) UMLS:C0334489 E (Exact mapping: the two concepts are equivalent) 13q12.13 K35 Ensembl:ENSG00000132964 HGNC:1779 IUPHAR:1980 OMIM:603184 SwissProt:P49336 CDK8 cyclin dependent kinase 8 Keratosis palmoplantar-periodontopathy syndrome PLS Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 MeSH:D010214 MedDRA:10082856 OMIM:245000 UMLS:C0030360 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=678 Papillon-Lefèvre syndrome ORPHA:678 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D010214 E (Exact mapping: the two concepts are equivalent) MedDRA:10082856 E (Exact mapping: the two concepts are equivalent) OMIM:245000 E (Exact mapping: the two concepts are equivalent) UMLS:C0030360 E (Exact mapping: the two concepts are equivalent) Cutaneo-muco-intestinal syndrome MAP Papulosis atrophicans maligna Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal. Orphanet ICD-10:I77.8 ICD-11:EF5Y MeSH:D054853 MedDRA:10064281 OMIM:602248 UMLS:C0221011 Autosomal dominant Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=679 Malignant atrophic papulosis Clinical subtype ORPHA:679 ICD-10:I77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EF5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054853 E (Exact mapping: the two concepts are equivalent) MedDRA:10064281 E (Exact mapping: the two concepts are equivalent) OMIM:602248 E (Exact mapping: the two concepts are equivalent) UMLS:C0221011 E (Exact mapping: the two concepts are equivalent) A rare parasitic disease caused by free-living amoebae belonging to the <i>Acanthamoeba</i>, <i>Naegleria</i> and <i>Balamuthia</i> genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals <i>Acanthamoeba</i> genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the <i>Balamuthia</i> genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the <i>Naegleria fowleri</i> species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal. Orphanet ICD-10:B60.1 ICD-10:B60.2 ICD-11:1A36.11 ICD-11:1A36.12 ICD-11:1A36.1Y UMLS:C5681222 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68 Amoebiasis due to free-living amoebae ORPHA:68 ICD-10:B60.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B60.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36.11 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36.12 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A36.1Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681222 E (Exact mapping: the two concepts are equivalent) NormoKPP NormoPP Normokalemic PP Periodic paralysis type 3 Potassium-sensitive normokalemic periodic paralysis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyperkalemic periodic paralysis OMIM:170600 UMLS:C0268445 Normokalemic periodic paralysis ORPHA:680 OMIM:170600 E (Exact mapping: the two concepts are equivalent) UMLS:C0268445 E (Exact mapping: the two concepts are equivalent) Westphall disease A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels. Orphanet ICD-10:G72.3 ICD-11:8C74.10 MeSH:D020514 OMIM:170400 OMIM:613345 UMLS:C0238358 Autosomal dominant Adolescent Childhood Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 0.53 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=681 Hypokalemic periodic paralysis ORPHA:681 ICD-10:G72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C74.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020514 E (Exact mapping: the two concepts are equivalent) OMIM:170400 E (Exact mapping: the two concepts are equivalent) OMIM:613345 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0238358 E (Exact mapping: the two concepts are equivalent) Adynamia episodica hereditaria Familial hyperPP Familial hyperkalemic periodic paralysis Gamstorp disease Gamstorp episodic adynamy HYPP HyperKPP HyperPP Hyperkalemic PP Primary hyperPP Primary hyperkalemic periodic paralysis A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. Orphanet ICD-10:G72.3 ICD-11:8C74.11 MeSH:D020513 OMIM:170500 UMLS:C0238357 Autosomal dominant Childhood Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.06 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=682 Hyperkalemic periodic paralysis ORPHA:682 ICD-10:G72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C74.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020513 E (Exact mapping: the two concepts are equivalent) OMIM:170500 E (Exact mapping: the two concepts are equivalent) UMLS:C0238357 E (Exact mapping: the two concepts are equivalent) Xp22.2 CD288 hTLR8 Ensembl:ENSG00000101916 HGNC:15632 IUPHAR:1758 OMIM:300366 SwissProt:Q9NR97 TLR8 toll like receptor 8 PSP syndrome A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. Orphanet ICD-10:G23.1 ICD-11:8A00.10 MeSH:D013494 MedDRA:10036813 OMIM:260540 OMIM:601104 OMIM:609454 OMIM:610898 UMLS:C0038868 Not applicable Adult Elderly Australia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 Guadeloupe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Libyan Arab Jamahiriya AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 3.75 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.63 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.39 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 5.26 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=683 Progressive supranuclear palsy ORPHA:683 ICD-10:G23.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A00.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013494 E (Exact mapping: the two concepts are equivalent) MedDRA:10036813 E (Exact mapping: the two concepts are equivalent) OMIM:260540 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601104 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609454 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610898 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0038868 E (Exact mapping: the two concepts are equivalent) 13q13.3 CAGR1 Ensembl:ENSG00000180660 HGNC:6757 OMIM:601280 SwissProt:Q13394 MAB21L1 mab-21 like 1 Rare maxillofacial anomaly UMLS:C5680147 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68329 Rare maxillo-facial surgical disease Category Head of classification ORPHA:68329 UMLS:C5680147 E (Exact mapping: the two concepts are equivalent) Rare bleeding disorder due to a constitutional coagulation factors defect Rare coagulopathy due to a constitutional coagulation factors defect UMLS:C5680146 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect Category ORPHA:68334 UMLS:C5680146 E (Exact mapping: the two concepts are equivalent) MeSH:D002869 UMLS:C5681313 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68335 Rare chromosomal anomaly Category ORPHA:68335 MeSH:D002869 E (Exact mapping: the two concepts are equivalent) UMLS:C5681313 E (Exact mapping: the two concepts are equivalent) UMLS:C5681311 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68336 Rare genetic tumor Category ORPHA:68336 UMLS:C5681311 E (Exact mapping: the two concepts are equivalent) UMLS:C5681310 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68341 Multiple congenital anomalies/dysmorphic syndrome Category ORPHA:68341 UMLS:C5681310 E (Exact mapping: the two concepts are equivalent) Rare genodermatosis UMLS:C5680145 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68346 Rare genetic skin disease Category ORPHA:68346 UMLS:C5680145 E (Exact mapping: the two concepts are equivalent) UMLS:C5681309 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68347 Tumor of hematopoietic and lymphoid tissues Category ORPHA:68347 UMLS:C5681309 E (Exact mapping: the two concepts are equivalent) MeSH:D012893 MedDRA:10040984 UMLS:C5681308 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68354 Rare sleep disorder Category ORPHA:68354 MeSH:D012893 E (Exact mapping: the two concepts are equivalent) MedDRA:10040984 E (Exact mapping: the two concepts are equivalent) UMLS:C5681308 E (Exact mapping: the two concepts are equivalent) ICD-11:8A44 MedDRA:10024381 UMLS:C0023520 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68356 Leukodystrophy Category ORPHA:68356 ICD-11:8A44 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10024381 E (Exact mapping: the two concepts are equivalent) UMLS:C0023520 E (Exact mapping: the two concepts are equivalent) Rare hearing loss UMLS:C5680167 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68361 Rare deafness Category ORPHA:68361 UMLS:C5680167 E (Exact mapping: the two concepts are equivalent) UMLS:C5681327 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68362 Rare vascular disease Category ORPHA:68362 UMLS:C5681327 E (Exact mapping: the two concepts are equivalent) Rare dystonic disorder UMLS:C5680168 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68363 Rare dystonia Category ORPHA:68363 UMLS:C5680168 E (Exact mapping: the two concepts are equivalent) MeSH:D006453 MedDRA:10060892 UMLS:C0019045 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68364 Hemoglobinopathy Category ORPHA:68364 MeSH:D006453 E (Exact mapping: the two concepts are equivalent) MedDRA:10060892 E (Exact mapping: the two concepts are equivalent) UMLS:C0019045 E (Exact mapping: the two concepts are equivalent) ICD-11:5C56 UMLS:C5681329 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68366 Lysosomal disease Category ORPHA:68366 ICD-11:5C56 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681329 E (Exact mapping: the two concepts are equivalent) Rare metabolic disease UMLS:C5680169 Germany AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68367 Rare inborn errors of metabolism Category Head of classification ORPHA:68367 UMLS:C5680169 E (Exact mapping: the two concepts are equivalent) 6q22.1 MCF3 ROS c-ros-1 Ensembl:ENSG00000047936 HGNC:10261 IUPHAR:1840 OMIM:165020 SwissProt:P08922 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase 12p13.31 HCP HCPH PTP-1C SHP-1 SHP1 Ensembl:ENSG00000111679 HGNC:9658 OMIM:176883 SwissProt:P29350 PTPN6 protein tyrosine phosphatase non-receptor type 6 ICD-11:5C57 MeSH:D018901 UMLS:C5681330 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68373 Peroxisomal disease Category ORPHA:68373 ICD-11:5C57 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018901 E (Exact mapping: the two concepts are equivalent) UMLS:C5681330 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68378 Congenital limb malformation Category ORPHA:68378 MeSH:D028361 UMLS:C0751651 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68380 Mitochondrial disease Category ORPHA:68380 MeSH:D028361 E (Exact mapping: the two concepts are equivalent) UMLS:C0751651 E (Exact mapping: the two concepts are equivalent) MeSH:D009468 MedDRA:10029323 UMLS:C0027868 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68381 Neuromuscular disease Category ORPHA:68381 MeSH:D009468 E (Exact mapping: the two concepts are equivalent) MedDRA:10029323 E (Exact mapping: the two concepts are equivalent) UMLS:C0027868 E (Exact mapping: the two concepts are equivalent) ICD-10:D61.0 UMLS:C5681331 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68383 Rare constitutional aplastic anemia Category ORPHA:68383 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681331 E (Exact mapping: the two concepts are equivalent) UMLS:C5681332 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68385 Neurometabolic disease Category ORPHA:68385 UMLS:C5681332 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Malformation syndrome with hamartosis OBSOLETE: Neurofibromatosis ORPHA:68388 Paramyotonia congenita A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia. Orphanet ICD-10:G71.1 ICD-11:8C74.0 MedDRA:10088318 OMIM:168300 UMLS:C0221055 Autosomal dominant Adolescent Childhood Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.94 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684 Paramyotonia congenita of Von Eulenburg ORPHA:684 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C74.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10088318 E (Exact mapping: the two concepts are equivalent) OMIM:168300 E (Exact mapping: the two concepts are equivalent) UMLS:C0221055 E (Exact mapping: the two concepts are equivalent) Rare hypokinetic movement disorder UMLS:C5680173 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68402 Rare parkinsonian disorder Category ORPHA:68402 UMLS:C5680173 E (Exact mapping: the two concepts are equivalent) UMLS:C5681337 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68411 Rare bone tumor Category ORPHA:68411 UMLS:C5681337 E (Exact mapping: the two concepts are equivalent) UMLS:C5681339 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68415 Rare parathyroid disease and phosphocalcic metabolism anomaly Category ORPHA:68415 UMLS:C5681339 E (Exact mapping: the two concepts are equivalent) UMLS:C5681338 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68416 Rare infectious disease Category Head of classification ORPHA:68416 UMLS:C5681338 E (Exact mapping: the two concepts are equivalent) 11q13.4 BM32A FLJ32029 glucose-1,6-bisphosphate synthase Ensembl:ENSG00000165434 HGNC:20898 OMIM:611610 SwissProt:Q6PCE3 PGM2L1 phosphoglucomutase 2 like 1 UMLS:C5681318 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=68419 Rare vascular anomaly Category ORPHA:68419 UMLS:C5681318 E (Exact mapping: the two concepts are equivalent) BEFAHRS Beck-Fahrner syndrome Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome TET3 deficiency TET3-related Beck-Fahrner syndrome OMIM:618798 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684216 Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216 OMIM:618798 E (Exact mapping: the two concepts are equivalent) KMT5B haploinsufficiency neurodevelopmental disorder OMIM:617788 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684226 Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome ORPHA:684226 OMIM:617788 E (Exact mapping: the two concepts are equivalent) Den Hoed-De Boer-Voisin syndrome OMIM:619228 OMIM:619229 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684232 Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232 OMIM:619228 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619229 BTNT (ORPHAcode is broader than the targeted code used to represent it) KABAMAS Kaya-Barakat-Masson syndrome OMIM:619125 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240 OMIM:619125 E (Exact mapping: the two concepts are equivalent) OMIM:618157 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684247 Isolated growth hormone deficiency type IV Clinical subtype ORPHA:684247 OMIM:618157 E (Exact mapping: the two concepts are equivalent) HOD https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684290 Hypertrophic olivary degeneration ORPHA:684290 Neuro-oculo-cardio-genito-urinary syndrome Neurooculocardiogenitourinary syndrome OMIM:618652 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684305 NOCGUS syndrome ORPHA:684305 OMIM:618652 E (Exact mapping: the two concepts are equivalent) del2q13 syndrome https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684742 2q13 microdeletion syndrome ORPHA:684742 ACD https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684752 Isolated anal canal duplication ORPHA:684752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=684757 Malformation of the anal canal and the rectum Category ORPHA:684757 16q23.1 HGNC:13488 VPS4A vacuolar protein sorting 4 homolog A Familial spastic paraplegia HSP Hereditary spastic paraparesis SPG Strümpell-Lorrain disease A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features. Orphanet ICD-10:G11.4 ICD-11:8B44.0 MeSH:D015419 MedDRA:10019903 UMLS:C0037773 Autosomal dominant Autosomal recessive X-linked recessive All ages Estonia AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 4.8 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 Libyan Arab Jamahiriya AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 4.1 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 9.6 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 Tunisia AND has_point_prevalence_average_value : 5.75 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=685 Hereditary spastic paraplegia Clinical group ORPHA:685 ICD-10:G11.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015419 E (Exact mapping: the two concepts are equivalent) MedDRA:10019903 E (Exact mapping: the two concepts are equivalent) UMLS:C0037773 E (Exact mapping: the two concepts are equivalent) PPM Primary malignant pericardial mesothelioma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=685004 Primary pericardial mesothelioma ORPHA:685004 Malignant mesothelioma of the tunica vaginalis https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=685010 Mesothelioma of the tunica vaginalis ORPHA:685010 OMIM:188400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=685017 Combined immunodeficiency due to TBX1 deficiency ORPHA:685017 OMIM:188400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) ARED14 Autosomal recesive ectodermal dysplasia 14 OMIM:618180 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=685067 Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome ORPHA:685067 OMIM:618180 E (Exact mapping: the two concepts are equivalent) PARDS Pediatric ARDS https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=685082 Pediatric acute respiratory distress syndrome ORPHA:685082 IFNG-responsive severe MSMD Interferon gamma-responsive severe mendelian susceptibility to mycobacterial diseases OMIM:618963 OMIM:620668 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686447 IFNG-responsive severe mendelian susceptibility to mycobacterial diseases ORPHA:686447 OMIM:618963 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620668 BTNT (ORPHAcode is broader than the targeted code used to represent it) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686462 Non-fibrotic hypersensitivity pneumonitis Clinical subtype ORPHA:686462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686465 Fibrotic hypersensitivity pneumonitis Clinical subtype ORPHA:686465 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686468 Post 5-alpha-reductase inhibitors treatment syndrome ORPHA:686468 PSSD Post-SSRI sexual dysfunction https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686475 Post-selective serotonin reuptake inhibitor sexual dysfunction ORPHA:686475 BPTF-related NEDDFL BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies OMIM:617755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686482 BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome ORPHA:686482 OMIM:617755 E (Exact mapping: the two concepts are equivalent) RNU4-2-related neurodevelopmental syndrome OMIM:620851 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686488 RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome ORPHA:686488 OMIM:620851 E (Exact mapping: the two concepts are equivalent) 12q24.31 HGNC:10193 RNU4-2 RNA, U4 small nuclear 2 OMIM:619004 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686495 MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome ORPHA:686495 OMIM:619004 NTBT (ORPHAcode is narrower than the targeted code used to represent it) CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component CCME CMEC Congenital middle ear cholesteatoma https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686556 Isolated congenital cholesteatoma of the middle ear ORPHA:686556 PLAAT3-related lipodystrophy syndrome OMIM:620683 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999 OMIM:620683 E (Exact mapping: the two concepts are equivalent) Del(10)(p15) Deletion 10p15 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=687424 10p15 microdeletion syndrome ORPHA:687424 Del(10)(p13p14) Deletion 10p13-p14 OMIM:601362 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=687695 10p13-p14 deletion syndrome ORPHA:687695 OMIM:601362 E (Exact mapping: the two concepts are equivalent) Unifocal Langerhans cell granulomatosis Unifocal histiocytosis X https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=687730 Unifocal Langerhans cell histiocytosis Clinical subtype ORPHA:687730 PLCH Single-system Langerhans cell granulomatosis Single-system pulmonary Langerhans cell histiocytosis Single-system pulmonary histiocytosis X https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=687733 Pulmonary Langerhans cell histiocytosis Clinical subtype ORPHA:687733 Single-system multifocal Langerhans cell granulomatosis Single-system multifocal histiocytosis X https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=687738 Single-system multifocal Langerhans cell histiocytosis Clinical subtype ORPHA:687738 Multisystem Langerhans cell granulomatosis Multisystem histiocytosis X https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=687741 Multisystem Langerhans cell histiocytosis Clinical subtype ORPHA:687741 Splenic cavernous malformation Splenic slow flow venous malformation Venous malformation of the spleen https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688523 Splenic venous malformation ORPHA:688523 Activated RAC2-associated severe combined immunodeficiency Activated Rac2 defect Non-syndromic reticular dysgenesis Reticular dysgenesis-like SCID https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688543 Reticular dysgenesis-like severe combined immunodeficiency ORPHA:688543 CID with normal Ig and poor specific antibody response Combined immunodeficiency with normal immunoglobulins and poor specific antibody response https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688563 Combined immunodeficiency with normal Ig and poor specific antibody response Clinical group ORPHA:688563 CID with low Ig Combined immunodeficiency low Ig https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688571 Combined immunodeficiency with low immunoglobulins Clinical group ORPHA:688571 MFHIEN Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome OMIM:300990 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688581 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581 OMIM:300990 E (Exact mapping: the two concepts are equivalent) CID due to RELB deficiency Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency OMIM:617585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688594 Combined immunodeficiency due to RELB deficiency ORPHA:688594 OMIM:617585 E (Exact mapping: the two concepts are equivalent) PCGF2-related disorder TPFS OMIM:618371 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688642 Turnpenny-Fry syndrome ORPHA:688642 OMIM:618371 E (Exact mapping: the two concepts are equivalent) 17q12 HGNC:12929 PCGF2 polycomb group ring finger 2 Isolated AMH https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688649 Isolated adrenal medullary hyperplasia ORPHA:688649 12q24.31 HGNC:1664 SCARB1 scavenger receptor class B member 1 10p15.3 HGNC:31406 WDR37 WD repeat domain 37 2q13 HGNC:26740 FBLN7 fibulin 7 2q13 HGNC:25913 TMEM87B transmembrane protein 87B Scarlatina https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=688995 Scarlet fever ORPHA:688995 CeAD SCAD https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689001 Isolated spontaneous vertebral artery dissection ORPHA:689001 Anoctamin-5-related myopathy pseudometabolic phenotype https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689021 Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome ORPHA:689021 5q31.1 HGNC:6116 IRF1 interferon regulatory factor 1 11q12.3-q13.1 HGNC:17825 PLAAT3 phospholipase A and acyltransferase 3 OMIM:615846 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689231 IFH1-related hereditary spastic paraplegia ORPHA:689231 OMIM:615846 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610181 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689234 RNASEH2B-related hereditary spastic paraplegia ORPHA:689234 OMIM:610181 NTBT (ORPHAcode is narrower than the targeted code used to represent it) 7p14.1 HGNC:9839 RALA RAS like proto-oncogene A OMIM:618732 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689397 Poirier-Bienvenue neurodevelopmental syndrome ORPHA:689397 OMIM:618732 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689401 Acquired hypothalamic obesity ORPHA:689401 OMIM:617190 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689408 Shashi-Pena syndrome ORPHA:689408 OMIM:617190 E (Exact mapping: the two concepts are equivalent) OMIM:617062 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689422 Okur-Chung neurodevelopmental syndrome ORPHA:689422 OMIM:617062 E (Exact mapping: the two concepts are equivalent) AA https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689430 Adenoid ameloblastoma ORPHA:689430 19q13.32 HGNC:7887 NOVA2 NOVA alternative splicing regulator 2 2p23.3 HGNC:23805 ASXL2 ASXL transcriptional regulator 2 SHDRA syndrome Severe congenital heart defects-renal anomalies syndome https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689822 Structural heart defects-renal anomalies syndrome ORPHA:689822 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=689829 Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829 19q13.32 HGNC:9956 RELB RELB proto-oncogene, NF-kB subunit A vast group of rare systemic diseases characterized by the presence of insoluble fibrillar protein deposits in tissues. Amyloidoses are classified according to biochemical type of amyloid protein involved. Orphanet ICD-10:E85.0 ICD-11:5D00 MeSH:D000686 MedDRA:10002022 UMLS:C0002726 All ages Korea, Republic of AND has_point_prevalence_average_value : 1.91 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69 Amyloidosis Category ORPHA:69 ICD-10:E85.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5D00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000686 E (Exact mapping: the two concepts are equivalent) MedDRA:10002022 E (Exact mapping: the two concepts are equivalent) UMLS:C0002726 E (Exact mapping: the two concepts are equivalent) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. Orphanet UMLS:C5681270 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69028 Dysostosis with brachydactyly Category ORPHA:69028 UMLS:C5681270 E (Exact mapping: the two concepts are equivalent) 2q37.1 HGNC:437 ALPI alkaline phosphatase, intestinal 11p15.4 HGNC:16379 TRIM22 tripartite motif containing 22 A rare primary glomerulopathy of unknown cause characterized by edema, nephrotic-range proteinuria and hypoalbuminemia that responds to standard prednisone treatment within 4-6 weeks. Orphanet ICD-10:N04.0 ICD-11:GB41 OMIM:615861 UMLS:C0403396 Unknown All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69061 Idiopathic steroid-sensitive nephrotic syndrome ORPHA:69061 ICD-10:N04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615861 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0403396 E (Exact mapping: the two concepts are equivalent) Alloimmune neonatal renal disease FMAIG Fetomaternal alloimmunization with antenatal glomerulopathies Neonatal glomerulopathy due to neprilysin alloimmunization Neonatal membranous glomerulopathy with maternal NEP deficiency Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life. Orphanet ICD-10:P96.0 ICD-11:GB41 UMLS:C4511239 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization ORPHA:69063 ICD-10:P96.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4511239 E (Exact mapping: the two concepts are equivalent) Familial renal glycosuria SGLT2 deficiency A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation. Orphanet ICD-10:E74.8 ICD-11:5C61.5 MedDRA:10073689 OMIM:233100 UMLS:C3245525 Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69076 Familial renal glucosuria ORPHA:69076 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073689 E (Exact mapping: the two concepts are equivalent) OMIM:233100 E (Exact mapping: the two concepts are equivalent) UMLS:C3245525 E (Exact mapping: the two concepts are equivalent) Malignant rhabdoid tumor Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term). Orphanet ICD-10:C49.9 MeSH:D018335 MedDRA:10073334 OMIM:609322 OMIM:613325 UMLS:C0206743 Not applicable Antenatal Childhood Infancy Neonatal Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69077 Rhabdoid tumor ORPHA:69077 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D018335 E (Exact mapping: the two concepts are equivalent) MedDRA:10073334 E (Exact mapping: the two concepts are equivalent) OMIM:609322 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613325 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0206743 E (Exact mapping: the two concepts are equivalent) Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla. Orphanet ICD-10:C49.9 ICD-11:2B59 ICD-11:2B59.0 ICD-11:2B59.1 ICD-11:2B59.2 ICD-11:2B59.Y MeSH:D008080 MedDRA:10024627 OMIM:613488 UMLS:C0023827 Unknown All ages Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.59 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69078 Liposarcoma ORPHA:69078 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B59 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B59.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B59.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B59.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B59.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008080 E (Exact mapping: the two concepts are equivalent) MedDRA:10024627 E (Exact mapping: the two concepts are equivalent) OMIM:613488 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0023827 E (Exact mapping: the two concepts are equivalent) OTUDP syndrome Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C566598 OMIM:601957 UMLS:C1865998 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69082 Odonto-tricho-ungual-digito-palmar syndrome ORPHA:69082 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566598 E (Exact mapping: the two concepts are equivalent) OMIM:601957 E (Exact mapping: the two concepts are equivalent) UMLS:C1865998 E (Exact mapping: the two concepts are equivalent) A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C563347 OMIM:601345 UMLS:C1832444 Autosomal dominant Childhood Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69083 Ectodermal dysplasia with natal teeth, Turnpenny type ORPHA:69083 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563347 E (Exact mapping: the two concepts are equivalent) OMIM:601345 E (Exact mapping: the two concepts are equivalent) UMLS:C1832444 E (Exact mapping: the two concepts are equivalent) HNED Hair-nail ectodermal dysplasia PHNED Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MeSH:C566592 OMIM:602032 OMIM:614927 OMIM:614928 OMIM:614929 OMIM:614931 UMLS:C1865951 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69084 Pure hair and nail ectodermal dysplasia ORPHA:69084 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566592 E (Exact mapping: the two concepts are equivalent) OMIM:602032 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614927 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614928 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614929 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614931 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1865951 E (Exact mapping: the two concepts are equivalent) LMS A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C535903 OMIM:603543 UMLS:C1863753 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69085 Limb-mammary syndrome ORPHA:69085 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535903 E (Exact mapping: the two concepts are equivalent) OMIM:603543 E (Exact mapping: the two concepts are equivalent) UMLS:C1863753 E (Exact mapping: the two concepts are equivalent) NFJ syndrome Naegeli syndrome A rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MeSH:C538331 OMIM:161000 UMLS:C0343111 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.035 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69087 Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538331 E (Exact mapping: the two concepts are equivalent) OMIM:161000 E (Exact mapping: the two concepts are equivalent) UMLS:C0343111 E (Exact mapping: the two concepts are equivalent) OL-EDA-ID This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Orphanet ICD-10:Q78.2 ICD-11:LD27.0Y OMIM:300291 OMIM:612132 UMLS:C4303737 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300291 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612132 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4303737 E (Exact mapping: the two concepts are equivalent) 7q22.1 HGNC:11540 TAF6 TATA-box binding protein associated factor 6 A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q84.3 ICD-11:LD27.0Y MeSH:C566278 OMIM:106750 UMLS:C1862844 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69125 Anonychia with flexural pigmentation ORPHA:69125 ICD-10:Q84.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566278 E (Exact mapping: the two concepts are equivalent) OMIM:106750 E (Exact mapping: the two concepts are equivalent) UMLS:C1862844 E (Exact mapping: the two concepts are equivalent) FRA Familial recurrent arthritis Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Orphanet ICD-10:D89.8 ICD-11:4A60.Y MeSH:C536253 MedDRA:10072222 OMIM:604416 UMLS:C1858361 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69126 PAPA syndrome ORPHA:69126 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536253 E (Exact mapping: the two concepts are equivalent) MedDRA:10072222 E (Exact mapping: the two concepts are equivalent) OMIM:604416 E (Exact mapping: the two concepts are equivalent) UMLS:C1858361 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: IgA deficiency NON RARE IN EUROPE: IgAD NON RARE IN EUROPE: SIgAD NON RARE IN EUROPE: Selective immunoglobulin A deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:D80.2 NON RARE IN EUROPE: Immunoglobulin A deficiency ORPHA:69127 ICD-10:D80.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ABCB4-related cholelithiasis LPAC A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. Orphanet ICD-10:K80.8 ICD-11:DC11.Y MedDRA:10068936 OMIM:600803 UMLS:C2609268 Autosomal dominant Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69663 Low phospholipid-associated cholelithiasis ORPHA:69663 ICD-10:K80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DC11.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10068936 E (Exact mapping: the two concepts are equivalent) OMIM:600803 E (Exact mapping: the two concepts are equivalent) UMLS:C2609268 E (Exact mapping: the two concepts are equivalent) Gravidic intrahepatic cholestasis Pregnancy-related cholestasis Recurrent intrahepatic cholestasis of pregnancy Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. Orphanet ICD-10:O26.6 ICD-11:JA65.0 MeSH:C535932 OMIM:147480 OMIM:614972 UMLS:C0268318 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69665 Intrahepatic cholestasis of pregnancy ORPHA:69665 ICD-10:O26.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:JA65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535932 E (Exact mapping: the two concepts are equivalent) OMIM:147480 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614972 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268318 E (Exact mapping: the two concepts are equivalent) Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia type III A rare inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. Orphanet ICD-10:E70.2 ICD-11:5C50.1Y MedDRA:10069461 OMIM:276710 UMLS:C0268623 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69723 Tyrosinemia type 3 ORPHA:69723 ICD-10:E70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069461 E (Exact mapping: the two concepts are equivalent) OMIM:276710 E (Exact mapping: the two concepts are equivalent) UMLS:C0268623 E (Exact mapping: the two concepts are equivalent) Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Orphanet ICD-10:Q82.0 OMIM:137940 OMIM:607823 UMLS:C4317151 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:137940 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607823 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4317151 E (Exact mapping: the two concepts are equivalent) BADI Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. Orphanet ICD-10:Q13.8 ICD-11:9A90.1 UMLS:C4304058 Unknown Adult Worldwide AND has_cases/families_value : 62.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69736 Bilateral acute depigmentation of the iris ORPHA:69736 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A90.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304058 E (Exact mapping: the two concepts are equivalent) Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the <i>HOXA1</i> gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y OMIM:601536 UMLS:C1832216 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69737 Bosley-Salih-Alorainy syndrome ORPHA:69737 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601536 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1832216 E (Exact mapping: the two concepts are equivalent) ABSD Athabascan brainstem dysgenesis syndrome Navajo brainstem syndrome A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. Orphanet ICD-10:G96.8 ICD-11:LD2H.Y MeSH:C535397 OMIM:601536 UMLS:C1832215 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69739 Athabaskan brainstem dysgenesis syndrome ORPHA:69739 ICD-10:G96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535397 E (Exact mapping: the two concepts are equivalent) OMIM:601536 E (Exact mapping: the two concepts are equivalent) UMLS:C1832215 E (Exact mapping: the two concepts are equivalent) Circumscribed acral hypokeratosis A rare acquired epidermal dysplasia characterized by annular, well-circumscribed patches of erythematous depressed skin. Orphanet ICD-10:L98.8 UMLS:C0406762 Unknown Adult Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69744 Circumscribed palmoplantar hypokeratosis ORPHA:69744 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0406762 E (Exact mapping: the two concepts are equivalent) Follicular dyskeratoma A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed. Orphanet ICD-10:L85.8 ICD-11:2F21.Y ICD-11:XH65S7 MedDRA:10068856 UMLS:C0334063 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69745 Warty dyskeratoma ORPHA:69745 ICD-10:L85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH65S7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10068856 E (Exact mapping: the two concepts are equivalent) UMLS:C0334063 E (Exact mapping: the two concepts are equivalent) PMPS Pearson marrow-pancreas syndrome A rare mitochondrial oxidative phosphorylation disorder due to large-scale single deletion of mitochondrial DNA characterized by hyporegenerative anemia in early infancy with vacuolization of bone marrow precursors, lactic acidosis and multi-organ dysfunctions such as exocrine pancreatic dysfunction, and renal tubulopathy. Orphanet ICD-10:D64.0 ICD-11:3A72.01 MedDRA:10062941 OMIM:557000 UMLS:C0342784 Mitochondrial inheritance Not applicable Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 194.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=699 Pearson syndrome ORPHA:699 ICD-10:D64.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A72.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10062941 E (Exact mapping: the two concepts are equivalent) OMIM:557000 E (Exact mapping: the two concepts are equivalent) UMLS:C0342784 E (Exact mapping: the two concepts are equivalent) Craniocerebellocardiac dysplasia Ritscher-Schinzel syndrome Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms). Orphanet ICD-10:Q87.8 MeSH:C535313 OMIM:220210 OMIM:300963 OMIM:619135 OMIM:619435 UMLS:C0796137 Autosomal recessive X-linked recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=7 3C syndrome ORPHA:7 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535313 E (Exact mapping: the two concepts are equivalent) OMIM:220210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300963 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619135 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619435 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796137 E (Exact mapping: the two concepts are equivalent) SMA A group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. Orphanet ICD-10:G12.0 ICD-10:G12.1 ICD-11:8B61.Y OMIM:253300 OMIM:253400 OMIM:253550 OMIM:271150 UMLS:C4024957 Autosomal recessive All ages Europe AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70 Proximal spinal muscular atrophy ORPHA:70 ICD-10:G12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:253300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:253400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:253550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:271150 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4024957 E (Exact mapping: the two concepts are equivalent) A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous. Orphanet ICD-10:L63.0 ICD-11:ED70.21 MedDRA:10001766 OMIM:104000 OMIM:300042 OMIM:610753 UMLS:C0263504 Multigenic/multifactorial All ages Europe AND has_point_prevalence_average_value : 10.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=700 Alopecia totalis ORPHA:700 ICD-10:L63.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:ED70.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10001766 E (Exact mapping: the two concepts are equivalent) OMIM:104000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:300042 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610753 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0263504 E (Exact mapping: the two concepts are equivalent) A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body. Orphanet ICD-10:L63.1 ICD-11:ED70.2Y MeSH:C537055 MedDRA:10001767 OMIM:104000 OMIM:203655 OMIM:610753 UMLS:C0263505 Autosomal recessive Multigenic/multifactorial All ages Europe AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=701 Alopecia universalis ORPHA:701 ICD-10:L63.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:ED70.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537055 E (Exact mapping: the two concepts are equivalent) MedDRA:10001767 E (Exact mapping: the two concepts are equivalent) OMIM:104000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:203655 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610753 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0263505 E (Exact mapping: the two concepts are equivalent) Diffuse familial brain sclerosis PMD Pelizaeus-Merzbacher brain sclerosis Sudanophilic leukodystrophy, Paelizeus-Merzbacher type Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms). Orphanet ICD-10:E75.2 ICD-11:8A44.0 MeSH:D020371 MedDRA:10067610 OMIM:213900 OMIM:312080 UMLS:C0205711 X-linked dominant X-linked recessive All ages Europe AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=702 Pelizaeus-Merzbacher disease ORPHA:702 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:8A44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020371 E (Exact mapping: the two concepts are equivalent) MedDRA:10067610 E (Exact mapping: the two concepts are equivalent) OMIM:213900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:312080 E (Exact mapping: the two concepts are equivalent) UMLS:C0205711 E (Exact mapping: the two concepts are equivalent) A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission. Orphanet ICD-10:L12.0 ICD-11:EB41.0 MeSH:D010391 MedDRA:10006567 UMLS:C0030805 Not applicable All ages Europe AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 2.17 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 1.34 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 25.93 AND has_point_prevalence_range : 1-5 / 10 000 Switzerland AND has_annual_incidence_average_value : 1.21 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 4.3 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=703 Bullous pemphigoid ORPHA:703 ICD-10:L12.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB41.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010391 E (Exact mapping: the two concepts are equivalent) MedDRA:10006567 E (Exact mapping: the two concepts are equivalent) UMLS:C0030805 E (Exact mapping: the two concepts are equivalent) A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected. Orphanet ICD-10:L10.0 ICD-11:EB40.0 MedDRA:10052802 OMIM:169610 UMLS:C0030809 Not applicable Adult Childhood Elderly Bulgaria AND has_annual_incidence_average_value : 0.47 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 18.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 0.076 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 9.482 AND has_point_prevalence_range : 1-9 / 100 000 Tunisia AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=704 Pemphigus vulgaris ORPHA:704 ICD-10:L10.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB40.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10052802 E (Exact mapping: the two concepts are equivalent) OMIM:169610 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0030809 E (Exact mapping: the two concepts are equivalent) OBSOLETE: HLP type 5 OBSOLETE: Major hyperlipidemia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial chylomicronemia syndrome OBSOLETE: Hyperlipoproteinemia type 5 ORPHA:70470 COX deficiency, French-Canadian type Cytochrome C oxidase deficiency, French-Canadian type Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac-Saint-Jean type SLSJ-COX deficiency A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. Orphanet ICD-10:G31.8 ICD-11:5C53.24 MeSH:C537004 OMIM:220111 OMIM:619065 UMLS:C1857355 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.24 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537004 E (Exact mapping: the two concepts are equivalent) OMIM:220111 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619065 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1857355 E (Exact mapping: the two concepts are equivalent) Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy due to COX deficiency Leigh disease with myopathy This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leigh syndrome UMLS:C5680116 Leigh syndrome with cardiomyopathy ORPHA:70474 UMLS:C5680116 E (Exact mapping: the two concepts are equivalent) Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis. Orphanet ICD-10:K62.7 ICD-11:DB33.42 MedDRA:10037766 UMLS:C0400827 Not applicable Adult Europe AND has_point_prevalence_average_value : 35.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70475 Radiation proctitis ORPHA:70475 ICD-10:K62.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB33.42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10037766 E (Exact mapping: the two concepts are equivalent) UMLS:C0400827 E (Exact mapping: the two concepts are equivalent) Spring catarrh A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys. Orphanet ICD-10:H16.2 ICD-11:9A60.5 MedDRA:10081000 UMLS:C0022577 Not applicable Childhood Europe AND has_point_prevalence_average_value : 32.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 45.5 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 151.0 AND has_point_prevalence_range : >1 / 1000 Netherlands AND has_point_prevalence_average_value : 26.0 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 49.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70476 Vernal keratoconjunctivitis ORPHA:70476 ICD-10:H16.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A60.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10081000 E (Exact mapping: the two concepts are equivalent) UMLS:C0022577 E (Exact mapping: the two concepts are equivalent) Esophageal carcinoma Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). Orphanet MedDRA:10030155 UMLS:C0152018 Adult Africa AND has_annual_incidence_average_value : 2.3 AND has_annual_incidence_range : 1-9 / 100 000 Austria AND has_annual_incidence_average_value : 3.293 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 7.892 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 1.194 AND has_annual_incidence_range : 1-9 / 100 000 Canada AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000 China AND has_annual_incidence_average_value : 20.0 AND has_annual_incidence_range : 1-5 / 10 000 Croatia AND has_annual_incidence_average_value : 3.281 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 3.718 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 3.473 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 6.67 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 12.2 AND has_lifetime_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 3.83 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 6.873 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 5.854 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 4.772 AND has_annual_incidence_range : 1-9 / 100 000 India AND has_annual_incidence_average_value : 3.9 AND has_annual_incidence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 0.34 AND has_point_prevalence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 7.2 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 3.612 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 9.0 AND has_annual_incidence_range : 1-9 / 100 000 Latin America AND has_annual_incidence_average_value : 13.0 AND has_annual_incidence_range : 1-5 / 10 000 Latvia AND has_annual_incidence_average_value : 3.372 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 3.468 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 2.575 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 8.362 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 3.592 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 2.414 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 4.592 AND has_annual_incidence_range : 1-9 / 100 000 Russian Federation AND has_annual_incidence_average_value : 8.0 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 4.54 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 3.904 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 4.777 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 6.413 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 10.82 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 5.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 9.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70482 Carcinoma of esophagus Clinical group ORPHA:70482 MedDRA:10030155 E (Exact mapping: the two concepts are equivalent) UMLS:C0152018 E (Exact mapping: the two concepts are equivalent) Goiter-deafness syndrome Goiter-hearing loss syndrome A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter. Orphanet ICD-10:E07.1 ICD-11:5A00.02 MeSH:C536648 MedDRA:10080398 OMIM:274600 UMLS:C0271829 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=705 Pendred syndrome ORPHA:705 ICD-10:E07.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A00.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536648 E (Exact mapping: the two concepts are equivalent) MedDRA:10080398 E (Exact mapping: the two concepts are equivalent) OMIM:274600 E (Exact mapping: the two concepts are equivalent) UMLS:C0271829 E (Exact mapping: the two concepts are equivalent) Bile duct cancer CCA Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic. Orphanet ICD-10:C22.1 ICD-10:C24.0 ICD-10:C24.8 ICD-10:C24.9 ICD-11:2C12.10 MeSH:D018281 MedDRA:10008593 OMIM:615619 UMLS:C0206698 Not applicable Adult Australia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 5.5 AND has_annual_incidence_range : 1-9 / 100 000 Thailand AND has_annual_incidence_average_value : 113.0 AND has_annual_incidence_range : >1 / 1000 United States AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 4.2 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70567 Cholangiocarcinoma ORPHA:70567 ICD-10:C22.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C24.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C24.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C24.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C12.10 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018281 E (Exact mapping: the two concepts are equivalent) MedDRA:10008593 E (Exact mapping: the two concepts are equivalent) OMIM:615619 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0206698 E (Exact mapping: the two concepts are equivalent) PTLD A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. In solid organ transplant recipients, PTLD may also involve the allograft. Orphanet ICD-10:D47.9 MedDRA:10051358 UMLS:C0432487 Not applicable All ages Europe AND has_point_prevalence_average_value : 26.2 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70568 Post-transplant lymphoproliferative disease ORPHA:70568 ICD-10:D47.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10051358 E (Exact mapping: the two concepts are equivalent) UMLS:C0432487 E (Exact mapping: the two concepts are equivalent) SCLC Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. Orphanet ICD-10:C34.9 ICD-11:2C25.1 MedDRA:10041067 OMIM:182280 UMLS:C0149925 Not applicable Adult Europe AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70573 Small cell lung cancer ORPHA:70573 ICD-10:C34.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10041067 E (Exact mapping: the two concepts are equivalent) OMIM:182280 E (Exact mapping: the two concepts are equivalent) UMLS:C0149925 E (Exact mapping: the two concepts are equivalent) Adult ARDS A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. Orphanet ICD-10:J80 ICD-11:CB00 UMLS:C5680115 Not applicable Adult Denmark AND has_annual_incidence_average_value : 13.5 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 4.9 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 11.5 AND has_annual_incidence_range : 1-5 / 10 000 Spain AND has_annual_incidence_average_value : 7.2 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 13.5 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 64.0 AND has_annual_incidence_range : 6-9 / 10 000 United States AND has_point_prevalence_average_value : 51.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70578 Adult acute respiratory distress syndrome ORPHA:70578 ICD-10:J80 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:CB00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680115 E (Exact mapping: the two concepts are equivalent) Hyaline membrane disease Infant ARDS Infant respiratory distress syndrome Neonatal respiratory distress syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pediatric acute respiratory distress syndrome ICD-10:P22.0 ICD-11:KB23.0 MeSH:D012127 MedDRA:10028974 OMIM:267450 UMLS:C0035220 Infant acute respiratory distress syndrome ORPHA:70587 ICD-10:P22.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB23.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012127 E (Exact mapping: the two concepts are equivalent) MedDRA:10028974 E (Exact mapping: the two concepts are equivalent) OMIM:267450 E (Exact mapping: the two concepts are equivalent) UMLS:C0035220 E (Exact mapping: the two concepts are equivalent) Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth. Orphanet ICD-10:P24.0 ICD-11:KB26.0 MeSH:D008471 MedDRA:10076496 UMLS:C0025048 Not applicable Infancy Neonatal Europe AND has_point_prevalence_average_value : 2.44 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70588 Meconium aspiration syndrome ORPHA:70588 ICD-10:P24.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB26.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008471 E (Exact mapping: the two concepts are equivalent) MedDRA:10076496 E (Exact mapping: the two concepts are equivalent) UMLS:C0025048 E (Exact mapping: the two concepts are equivalent) BPD Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. Orphanet ICD-10:P27.1 ICD-11:KB29.0 MeSH:D001997 MedDRA:10006475 UMLS:C0006287 Not applicable Infancy Neonatal Europe AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70589 Bronchopulmonary dysplasia ORPHA:70589 ICD-10:P27.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB29.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001997 E (Exact mapping: the two concepts are equivalent) MedDRA:10006475 E (Exact mapping: the two concepts are equivalent) UMLS:C0006287 E (Exact mapping: the two concepts are equivalent) Apnea in full-term infants Apnea of infancy Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. Orphanet ICD-10:P28.4 ICD-11:7A4Y MedDRA:10077321 UMLS:C0745261 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70590 Infantile apnea ORPHA:70590 ICD-10:P28.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:7A4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10077321 E (Exact mapping: the two concepts are equivalent) UMLS:C0745261 E (Exact mapping: the two concepts are equivalent) CTEPH A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 &#181;m. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure. Orphanet ICD-10:I26.0 ICD-11:BB01.3 MedDRA:10068739 OMIM:612862 UMLS:C2363973 Not applicable Adolescent Adult Elderly Europe AND has_annual_incidence_average_value : 4.2 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 5.1 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70591 Chronic thromboembolic pulmonary hypertension ORPHA:70591 ICD-10:I26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BB01.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10068739 E (Exact mapping: the two concepts are equivalent) OMIM:612862 E (Exact mapping: the two concepts are equivalent) UMLS:C2363973 E (Exact mapping: the two concepts are equivalent) Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria. Orphanet ICD-10:D84.8 ICD-11:4A00.2 MeSH:C564352 OMIM:607676 OMIM:612260 UMLS:C1843256 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 49.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70592 Transient predisposition to invasive pyogenic bacterial infection ORPHA:70592 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564352 E (Exact mapping: the two concepts are equivalent) OMIM:607676 E (Exact mapping: the two concepts are equivalent) OMIM:612260 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1843256 E (Exact mapping: the two concepts are equivalent) SPAD Selective anti-polysaccharide antibody deficiency Specific anti-polysaccharide antibody deficiency Specific polysaccharide antibody deficiency A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness. Orphanet ICD-10:D80.8 ICD-11:4A01.02 UMLS:C0398712 Multigenic/multifactorial Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency ORPHA:70593 ICD-10:D80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0398712 E (Exact mapping: the two concepts are equivalent) Autosomal recessive sepiapterin reductase-deficient DRD DRD due to SRD SPR deficiency Sepiapterin reductase deficiency Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. Orphanet ICD-10:G24.1 ICD-11:5C59.01 MeSH:C562657 OMIM:612716 UMLS:C0268468 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 43.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562657 E (Exact mapping: the two concepts are equivalent) OMIM:612716 E (Exact mapping: the two concepts are equivalent) UMLS:C0268468 E (Exact mapping: the two concepts are equivalent) SANDO A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. Orphanet ICD-10:G71.3 ICD-11:5C53.21 MeSH:C537583 OMIM:607459 UMLS:C1843851 Autosomal recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537583 E (Exact mapping: the two concepts are equivalent) OMIM:607459 E (Exact mapping: the two concepts are equivalent) UMLS:C1843851 E (Exact mapping: the two concepts are equivalent) Antenatal EBV infection Antenatal Epstein-Barr virus infection Congenital EBV infection Mother-to-child transmission of Epstein-Barr virus infection A rare infectious disease that causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection. Orphanet ICD-10:P35.8 ICD-11:KA62.1 UMLS:C4274357 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=70596 Congenital Epstein-Barr virus infection ORPHA:70596 ICD-10:P35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KA62.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4274357 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Patent ductus arteriosus NON RARE IN EUROPE: Persistent patency of the arterial duct This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:Q25.0 MedDRA:10034130 NON RARE IN EUROPE: Patent arterial duct ORPHA:706 ICD-10:Q25.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10034130 E (Exact mapping: the two concepts are equivalent) Y. pestis infection Yersinia pestis infection Plague is a severe bacterial infection caused by the Gram-negative bacterium <i>Yersinia pestis</i>. Orphanet ICD-10:A20.0 ICD-10:A20.1 ICD-10:A20.2 ICD-10:A20.3 ICD-10:A20.7 ICD-10:A20.8 ICD-10:A20.9 ICD-11:1B93 MeSH:D010930 MedDRA:10035148 UMLS:C0032064 All ages Europe AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=707 Plague ORPHA:707 ICD-10:A20.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A20.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A20.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A20.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A20.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A20.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A20.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B93 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010930 E (Exact mapping: the two concepts are equivalent) MedDRA:10035148 E (Exact mapping: the two concepts are equivalent) UMLS:C0032064 E (Exact mapping: the two concepts are equivalent) Peters congenital glaucoma Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane. Orphanet ICD-10:Q13.4 ICD-11:9C61.42 MeSH:C537884 MedDRA:10059202 OMIM:604229 OMIM:612968 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=708 Peters anomaly ORPHA:708 ICD-10:Q13.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9C61.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537884 E (Exact mapping: the two concepts are equivalent) MedDRA:10059202 E (Exact mapping: the two concepts are equivalent) OMIM:604229 E (Exact mapping: the two concepts are equivalent) OMIM:612968 BTNT (ORPHAcode is broader than the targeted code used to represent it) Krause-Kivlin syndrome Krause-van Schooneveld-Kivlin syndrome Peters anomaly with short limb dwarfism Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. Orphanet ICD-10:Q13.8 ICD-11:LD21.Y MeSH:C537617 OMIM:261540 UMLS:C0796012 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=709 Peters plus syndrome ORPHA:709 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537617 E (Exact mapping: the two concepts are equivalent) OMIM:261540 E (Exact mapping: the two concepts are equivalent) UMLS:C0796012 E (Exact mapping: the two concepts are equivalent) Anderson disease CMRD CRD Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. Orphanet ICD-10:E78.6 ICD-11:5C81.1 MeSH:C535460 OMIM:246700 UMLS:C0795956 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 55.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71 Chylomicron retention disease ORPHA:71 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535460 E (Exact mapping: the two concepts are equivalent) OMIM:246700 E (Exact mapping: the two concepts are equivalent) UMLS:C0795956 E (Exact mapping: the two concepts are equivalent) ACS5 Acrocephalosyndactyly type 5 An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations. Orphanet ICD-10:Q87.0 ICD-11:LD24.G0 MeSH:C538582 MedDRA:10082289 OMIM:101600 UMLS:C0220658 Autosomal dominant Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=710 Pfeiffer syndrome ORPHA:710 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.G0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538582 E (Exact mapping: the two concepts are equivalent) MedDRA:10082289 E (Exact mapping: the two concepts are equivalent) OMIM:101600 E (Exact mapping: the two concepts are equivalent) UMLS:C0220658 E (Exact mapping: the two concepts are equivalent) GSD due to phosphoglucomutase deficiency GSD type 14 GSDXIV Glycogen storage disease type 14 Glycogen storage disease type XIV Glycogenosis due to phosphoglucomutase deficiency Glycogenosis type 14 Glycogenosis type XIV Phosphoglucomutase 1 deficiency This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PGM1-CDG UMLS:C2752015 Glycogen storage disease due to phosphoglucomutase deficiency ORPHA:711 UMLS:C2752015 E (Exact mapping: the two concepts are equivalent) UMLS:C5681268 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71198 Rare pulmonary hypertension Category ORPHA:71198 UMLS:C5681268 E (Exact mapping: the two concepts are equivalent) A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment. Orphanet ICD-10:D55.2 ICD-11:3A10.Y OMIM:613470 UMLS:C0272064 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=712 Hemolytic anemia due to glucophosphate isomerase deficiency ORPHA:712 ICD-10:D55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613470 E (Exact mapping: the two concepts are equivalent) UMLS:C0272064 E (Exact mapping: the two concepts are equivalent) Rare bleeding disorder due to a constitutional platelet anomaly Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia Rare coagulopathy due to a constitutional platelet anomaly Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia UMLS:C5680114 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly Category ORPHA:71202 UMLS:C5680114 E (Exact mapping: the two concepts are equivalent) MedDRA:10050245 UMLS:C0242584 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71203 Autoimmune thrombocytopenia Clinical group ORPHA:71203 MedDRA:10050245 E (Exact mapping: the two concepts are equivalent) UMLS:C0242584 E (Exact mapping: the two concepts are equivalent) Rare mesenchymal tumor UMLS:C5680113 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71209 Rare soft tissue tumor Category ORPHA:71209 UMLS:C5680113 E (Exact mapping: the two concepts are equivalent) Devic disease NMOSD A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. Orphanet ICD-10:G36.0 ICD-11:8A43 MeSH:D009471 MedDRA:10029322 UMLS:C0027873 Multigenic/multifactorial Adolescent Adult Childhood Elderly Australia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Australia AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Austria AND has_annual_incidence_average_value : 0.054 AND has_annual_incidence_range : <1 / 1 000 000 Austria AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Canada AND has_annual_incidence_average_value : 0.495 AND has_annual_incidence_range : 1-9 / 1 000 000 Costa rica AND has_annual_incidence_average_value : 0.285 AND has_annual_incidence_range : 1-9 / 1 000 000 Cuba AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000 Cuba AND has_point_prevalence_average_value : 0.52 AND has_point_prevalence_range : 1-9 / 1 000 000 Denmark AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_point_prevalence_average_value : 1.09 AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_annual_incidence_average_value : 0.132 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_point_prevalence_average_value : 1.91 AND has_point_prevalence_range : 1-9 / 100 000 India AND has_annual_incidence_average_value : 0.495 AND has_annual_incidence_range : 1-9 / 1 000 000 India AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 1.51 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 3.42 AND has_point_prevalence_range : 1-9 / 100 000 Malaysia AND has_annual_incidence_average_value : 0.39 AND has_annual_incidence_range : 1-9 / 1 000 000 Malaysia AND has_point_prevalence_average_value : 1.94 AND has_point_prevalence_range : 1-9 / 100 000 Martinique AND has_annual_incidence_average_value : 0.73 AND has_annual_incidence_range : 1-9 / 1 000 000 Martinique AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Netherlands AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.89 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.079 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 1.04 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.43 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 3.9 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.1877 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 2.071 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71211 Neuromyelitis optica spectrum disorder ORPHA:71211 ICD-10:G36.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A43 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009471 E (Exact mapping: the two concepts are equivalent) MedDRA:10029322 E (Exact mapping: the two concepts are equivalent) UMLS:C0027873 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SCHAD deficiency Hyperinsulinism due to glutamodehydrogenase deficiency SCHAD deficiency A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; <i>HADH</i> gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. Orphanet ICD-10:E71.3 ICD-11:5C52.01 OMIM:231530 OMIM:609975 UMLS:C4303473 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 10.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:231530 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609975 E (Exact mapping: the two concepts are equivalent) UMLS:C4303473 E (Exact mapping: the two concepts are equivalent) Retinal cavernous hemangioma Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. Orphanet ICD-10:D18.0 ICD-11:LD23 UMLS:C5681267 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71213 Retinal capillary malformation ORPHA:71213 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681267 E (Exact mapping: the two concepts are equivalent) Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y UMLS:C4303592 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303592 E (Exact mapping: the two concepts are equivalent) OBSOLETE: BES This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare ophthalmic disorder OBSOLETE: Benign exophthalmos syndrome ORPHA:71269 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome OBSOLETE: Auriculoocular anomalies-cleft lip syndrome ORPHA:71270 Split hand-split foot-hearing loss syndrome Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Orphanet ICD-10:Q87.2 ICD-11:LD2H.Y MeSH:C565647 OMIM:220600 UMLS:C1857344 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71271 Split hand-split foot-deafness syndrome ORPHA:71271 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565647 E (Exact mapping: the two concepts are equivalent) OMIM:220600 E (Exact mapping: the two concepts are equivalent) UMLS:C1857344 E (Exact mapping: the two concepts are equivalent) Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. Orphanet ICD-10:G24.8 MeSH:C537234 MedDRA:10066142 UMLS:C0338465 Not applicable Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71272 Sandifer syndrome ORPHA:71272 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537234 E (Exact mapping: the two concepts are equivalent) MedDRA:10066142 E (Exact mapping: the two concepts are equivalent) UMLS:C0338465 E (Exact mapping: the two concepts are equivalent) Left renal vein entrapment syndrome RNS A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices. Orphanet ICD-10:Q27.8 MeSH:D059228 UMLS:C3178770 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71273 Renal nutcracker syndrome ORPHA:71273 ICD-10:Q27.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D059228 E (Exact mapping: the two concepts are equivalent) UMLS:C3178770 E (Exact mapping: the two concepts are equivalent) DPL Diffuse peritoneal leiomyomatosis LPD Leiomyomatosis peritonealis disseminate Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity. Orphanet ICD-10:D20.1 UMLS:C0267785 Unknown Adult Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71274 Disseminated peritoneal leiomyomatosis ORPHA:71274 ICD-10:D20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0267785 E (Exact mapping: the two concepts are equivalent) Rh-null syndrome A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the <i>RHAG</i> gene), while the amorph type is due to mutations at the <i>RH</i> locus itself. Orphanet ICD-10:D58.8 ICD-11:3A10.Y MeSH:C562717 OMIM:268150 OMIM:617970 UMLS:C0272052 Autosomal recessive No data available Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71275 Rh deficiency syndrome ORPHA:71275 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562717 E (Exact mapping: the two concepts are equivalent) OMIM:268150 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:617970 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0272052 E (Exact mapping: the two concepts are equivalent) CMA grade 3 Chronic maxillary atelectasis grade III Imploding antrum syndrome A rare otorhinolaryngologic disease characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls and remodeling of the orbital floor. Orphanet ICD-10:J34.8 ICD-11:CA0B MedDRA:10075540 UMLS:C3698095 Not applicable Adult Worldwide AND has_cases/families_value : 558.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71276 Silent sinus syndrome ORPHA:71276 ICD-10:J34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA0B - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10075540 E (Exact mapping: the two concepts are equivalent) UMLS:C3698095 E (Exact mapping: the two concepts are equivalent) Classic GLUT1 deficiency syndrome Classic GLUT1-DS De Vivo disease Encephalopathy due to GLUT1 deficiency A rare inborn error of metabolism characterized by encephalopathy due to impaired glucose transport into neural cells. The most frequent clinical manifestations are epilepsy, intellectual disability and movement disorder. Orphanet ICD-10:G40.4 ICD-11:5C61.5 OMIM:606777 UMLS:C1847501 Autosomal dominant Autosomal recessive Infancy Neonatal Australia AND has_point_prevalence_average_value : 1.11 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 0.26 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.538 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71277 Classic glucose transporter type 1 deficiency syndrome ORPHA:71277 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606777 E (Exact mapping: the two concepts are equivalent) UMLS:C1847501 E (Exact mapping: the two concepts are equivalent) Inherited GS deficiency Inherited glutamine synthetase deficiency A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure. Orphanet ICD-10:E72.8 ICD-11:5C50.Y OMIM:610015 UMLS:C5680112 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71278 Congenital brain dysgenesis due to glutamine synthetase deficiency ORPHA:71278 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610015 E (Exact mapping: the two concepts are equivalent) UMLS:C5680112 E (Exact mapping: the two concepts are equivalent) CANDA syndrome Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies. Orphanet ICD-10:G61.8 ICD-11:8C01.3 MeSH:C537980 MedDRA:10088816 UMLS:C2931684 Adult Elderly Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71279 CANOMAD syndrome ORPHA:71279 ICD-10:G61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537980 E (Exact mapping: the two concepts are equivalent) MedDRA:10088816 E (Exact mapping: the two concepts are equivalent) UMLS:C2931684 E (Exact mapping: the two concepts are equivalent) UMLS:C5681266 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71281 Rare central nervous system and retinal vascular disease Category ORPHA:71281 UMLS:C5681266 E (Exact mapping: the two concepts are equivalent) ATRUS syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15). Orphanet ICD-10:Q87.2 ICD-11:3B64.01 OMIM:605432 OMIM:616738 UMLS:C4303670 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605432 E (Exact mapping: the two concepts are equivalent) OMIM:616738 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4303670 E (Exact mapping: the two concepts are equivalent) FPD/AML FPDMM FPS/AML Familial platelet disorder with predisposition to acute myelogenous leukemia Familial platelet disorder with predisposition to myeloid malignancy Familial platelet disorder with propensity to acute myeloid leukemia Familial thrombocytopenia with propensity to acute myelogenous leukemia RUNX1 familial platelet disorder RUNX1 familial platelet disorder with associated myeloid malignancies RUNX1-FPD RUNX1-FPDMM A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin. Orphanet ICD-10:D69.4 MeSH:C563324 OMIM:601399 UMLS:C1832388 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71290 Familial platelet disorder with associated myeloid malignancy ORPHA:71290 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563324 E (Exact mapping: the two concepts are equivalent) OMIM:601399 E (Exact mapping: the two concepts are equivalent) UMLS:C1832388 E (Exact mapping: the two concepts are equivalent) HVR Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Hereditary vascular retinopathy ORPHA:71291 GSD due to phosphoglycerate kinase 1 deficiency Glycogenosis due to phosphoglycerate kinase 1 deficiency A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:300653 UMLS:C5568976 X-linked recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300653 E (Exact mapping: the two concepts are equivalent) UMLS:C5568976 E (Exact mapping: the two concepts are equivalent) ICD-10:D55.2 ICD-11:3A10.Y OMIM:222800 UMLS:C0272069 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=714 Hemolytic anemia due to diphosphoglycerate mutase deficiency ORPHA:714 ICD-10:D55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:222800 E (Exact mapping: the two concepts are equivalent) UMLS:C0272069 E (Exact mapping: the two concepts are equivalent) Familial thrombocythemia Hereditary thrombocythemia Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. Orphanet ICD-10:D68.8 ICD-11:3B63.0 OMIM:187950 OMIM:601977 OMIM:614521 UMLS:C4303761 Autosomal dominant X-linked recessive Childhood Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71493 Familial thrombocytosis ORPHA:71493 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B63.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:187950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:601977 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614521 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4303761 E (Exact mapping: the two concepts are equivalent) GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe Glycogen storage disease type 9D Glycogen storage disease type 9E Glycogen storage disease type IXd Glycogen storage disease type IXe Glycogenosis due to muscle phosphorylase kinase deficiency Glycogenosis type 9D Glycogenosis type 9E Glycogenosis type IXd Glycogenosis type IXe Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:C564485 OMIM:300559 UMLS:C1845151 Autosomal recessive X-linked recessive Adolescent Adult Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=715 Glycogen storage disease due to muscle phosphorylase kinase deficiency ORPHA:715 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564485 E (Exact mapping: the two concepts are equivalent) OMIM:300559 E (Exact mapping: the two concepts are equivalent) UMLS:C1845151 E (Exact mapping: the two concepts are equivalent) CAR syndrome Paraneoplastic retinopathy A rare paraneoplastic disease of the eye characterized by the presence of extraocular malignancy and circulating autoantibodies against retinal proteins. Orphanet ICD-10:H35.8 ICD-11:9B71.4 MeSH:D059545 MedDRA:10065311 UMLS:C0730307 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71505 Cancer-associated retinopathy ORPHA:71505 ICD-10:H35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B71.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D059545 E (Exact mapping: the two concepts are equivalent) MedDRA:10065311 E (Exact mapping: the two concepts are equivalent) UMLS:C0730307 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare dystonia OBSOLETE: Mixed dystonia ORPHA:71516 DYT12 Dystonia 12 Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. Orphanet ICD-10:G24.1 ICD-11:8A02.12 MeSH:C538001 MedDRA:10083658 OMIM:128235 UMLS:C1868681 Autosomal dominant Not applicable Adolescent Adult Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71517 Rapid-onset dystonia-parkinsonism ORPHA:71517 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538001 E (Exact mapping: the two concepts are equivalent) MedDRA:10083658 E (Exact mapping: the two concepts are equivalent) OMIM:128235 E (Exact mapping: the two concepts are equivalent) UMLS:C1868681 E (Exact mapping: the two concepts are equivalent) A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood. Orphanet ICD-10:G24.3 ICD-11:8A02.2 UMLS:C3494934 Autosomal dominant Not applicable Unknown Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71518 Benign paroxysmal torticollis of infancy ORPHA:71518 ICD-10:G24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3494934 E (Exact mapping: the two concepts are equivalent) Psychogenic dystonia A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder. Orphanet ICD-10:F44.4 ICD-11:8A0Y MedDRA:10072376 UMLS:C0752208 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71519 Psychogenic movement disorders ORPHA:71519 ICD-10:F44.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10072376 E (Exact mapping: the two concepts are equivalent) UMLS:C0752208 E (Exact mapping: the two concepts are equivalent) POMC deficiency Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. Orphanet ICD-10:E66.8 ICD-11:5B81.Y MeSH:C565726 OMIM:601665 OMIM:609734 UMLS:C1857854 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71526 Obesity due to pro-opiomelanocortin deficiency Etiological subtype ORPHA:71526 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565726 E (Exact mapping: the two concepts are equivalent) OMIM:601665 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609734 E (Exact mapping: the two concepts are equivalent) UMLS:C1857854 E (Exact mapping: the two concepts are equivalent) PCI deficiency A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients. Orphanet ICD-10:E66.8 ICD-11:5B81.Y OMIM:600955 UMLS:C4302878 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71528 Obesity due to prohormone convertase I deficiency Etiological subtype ORPHA:71528 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600955 E (Exact mapping: the two concepts are equivalent) UMLS:C4302878 E (Exact mapping: the two concepts are equivalent) MC4R deficiency Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. Orphanet ICD-10:E66.8 ICD-11:5B81.Y OMIM:601665 OMIM:618406 UMLS:C4273958 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 50.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71529 Obesity due to melanocortin 4 receptor deficiency Etiological subtype ORPHA:71529 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601665 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:618406 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4273958 E (Exact mapping: the two concepts are equivalent) PAH deficiency PKU Phenylalanine hydroxylase deficiency A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. Orphanet ICD-10:E70.0 ICD-10:E70.1 ICD-11:5C50.0 MeSH:D010661 MedDRA:10034872 OMIM:261600 UMLS:C0031485 Autosomal recessive Infancy Argentina AND has_point_prevalence_average_value : 6.3633 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 2.266 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_average_value : 8.89 AND has_point_prevalence_range : 1-9 / 100 000 Austria AND has_birth_prevalence_average_value : 8.75 AND has_birth_prevalence_range : 1-9 / 100 000 Austria AND has_point_prevalence_average_value : 17.349 AND has_point_prevalence_range : 1-5 / 10 000 Bahrain AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Belarus AND has_point_prevalence_average_value : 13.0005 AND has_point_prevalence_range : 1-5 / 10 000 Bosnia and Herzegovina AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Brazil AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Bulgaria AND has_point_prevalence_average_value : 3.746 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 6.6666 AND has_point_prevalence_range : 1-9 / 100 000 Chile AND has_birth_prevalence_average_value : 7.55 AND has_birth_prevalence_range : 1-9 / 100 000 Chile AND has_point_prevalence_average_value : 5.1999 AND has_point_prevalence_range : 1-9 / 100 000 China AND has_birth_prevalence_average_value : 4.412 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 6.2798 AND has_point_prevalence_range : 1-9 / 100 000 Costa rica AND has_point_prevalence_average_value : 2.0333 AND has_point_prevalence_range : 1-9 / 100 000 Croatia AND has_point_prevalence_average_value : 12.0004 AND has_point_prevalence_range : 1-5 / 10 000 Cuba AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Cyprus AND has_point_prevalence_average_value : 7.6923 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 19.1534 AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 7.4437 AND has_point_prevalence_range : 1-9 / 100 000 Egypt AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Estonia AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000 Estonia AND has_point_prevalence_average_value : 13.9997 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 11.5079 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.8928 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 10.99 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 9.316 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 18.6567 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_birth_prevalence_average_value : 4.25 AND has_birth_prevalence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 9.5969 AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 8.5 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_point_prevalence_average_value : 11.1111 AND has_point_prevalence_range : 1-5 / 10 000 Iceland AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000 Iceland AND has_point_prevalence_average_value : 11.9 AND has_point_prevalence_range : 1-5 / 10 000 India AND has_birth_prevalence_average_value : 13.34 AND has_birth_prevalence_range : 1-5 / 10 000 India AND has_point_prevalence_average_value : 5.4644 AND has_point_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 7.271 AND has_birth_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Iraq AND has_point_prevalence_average_value : 6.9998 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000 Israel AND has_point_prevalence_average_value : 15.603 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 7.933 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Jordan AND has_birth_prevalence_average_value : 2.6 AND has_birth_prevalence_range : 1-9 / 100 000 Jordan AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_birth_prevalence_average_value : 5.1 AND has_birth_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_point_prevalence_average_value : 2.439 AND has_point_prevalence_range : 1-9 / 100 000 Latin America AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Latin America AND has_point_prevalence_average_value : 3.5999 AND has_point_prevalence_range : 1-9 / 100 000 Latvia AND has_point_prevalence_average_value : 12.2399 AND has_point_prevalence_range : 1-5 / 10 000 Lithuania AND has_point_prevalence_average_value : 10.7526 AND has_point_prevalence_range : 1-5 / 10 000 Mexico AND has_point_prevalence_average_value : 3.5999 AND has_point_prevalence_range : 1-9 / 100 000 Moldova, Republic of AND has_point_prevalence_average_value : 13.5998 AND has_point_prevalence_range : 1-5 / 10 000 Netherlands AND has_point_prevalence_average_value : 8.661 AND has_point_prevalence_range : 1-9 / 100 000 New Caledonia AND has_point_prevalence_average_value : 6.2798 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 6.2798 AND has_point_prevalence_range : 1-9 / 100 000 North Macedonia AND has_birth_prevalence_average_value : 24.6 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 8.7282 AND has_point_prevalence_range : 1-9 / 100 000 Pakistan AND has_birth_prevalence_average_value : 22.7 AND has_birth_prevalence_range : 1-5 / 10 000 Peru AND has_point_prevalence_average_value : 2.129 AND has_point_prevalence_range : 1-9 / 100 000 Philippines AND has_point_prevalence_average_value : 0.862 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_birth_prevalence_average_value : 7.85 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 12.3051 AND has_point_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Russian Federation AND has_point_prevalence_average_value : 12.9634 AND has_point_prevalence_range : 1-5 / 10 000 Saudi Arabia AND has_birth_prevalence_average_value : 6.8 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_point_prevalence_average_value : 7.02 AND has_point_prevalence_range : 1-9 / 100 000 Serbia AND has_point_prevalence_average_value : 8.13 AND has_point_prevalence_range : 1-9 / 100 000 Singapore AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Slovakia AND has_birth_prevalence_average_value : 16.9 AND has_birth_prevalence_range : 1-5 / 10 000 Slovakia AND has_point_prevalence_average_value : 17.3822 AND has_point_prevalence_range : 1-5 / 10 000 Slovenia AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 9.8366 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 7.8858 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 1.433 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 1.6999 AND has_point_prevalence_range : 1-9 / 100 000 Thailand AND has_birth_prevalence_average_value : 2.68 AND has_birth_prevalence_range : 1-9 / 100 000 Thailand AND has_point_prevalence_average_value : 0.4399 AND has_point_prevalence_range : 1-9 / 1 000 000 Tunisia AND has_point_prevalence_average_value : 13.0005 AND has_point_prevalence_range : 1-5 / 10 000 Turkey AND has_birth_prevalence_average_value : 9.95 AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 14.99 AND has_point_prevalence_range : 1-5 / 10 000 Ukraine AND has_point_prevalence_average_value : 14.0016 AND has_point_prevalence_range : 1-5 / 10 000 United Arab Emirates AND has_birth_prevalence_average_value : 7.6 AND has_birth_prevalence_range : 1-9 / 100 000 United Arab Emirates AND has_point_prevalence_average_value : 6.89 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 5.577 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.1366 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=716 Phenylketonuria ORPHA:716 ICD-10:E70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010661 E (Exact mapping: the two concepts are equivalent) MedDRA:10034872 E (Exact mapping: the two concepts are equivalent) OMIM:261600 E (Exact mapping: the two concepts are equivalent) UMLS:C0031485 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Adrenal/paraganglial tumor OBSOLETE: Catecholamine-producing tumor ORPHA:717 PRS A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction. Orphanet ICD-10:Q87.0 ICD-11:LA56 MeSH:D010855 OMIM:261800 UMLS:C0031900 Autosomal dominant Multigenic/multifactorial Not applicable Unknown Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 18.8 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 12.4 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 7.9 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=718 Isolated Pierre Robin sequence ORPHA:718 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA56 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010855 E (Exact mapping: the two concepts are equivalent) OMIM:261800 E (Exact mapping: the two concepts are equivalent) UMLS:C0031900 E (Exact mapping: the two concepts are equivalent) UMLS:C5681307 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71859 Rare genetic neurological disorder Category ORPHA:71859 UMLS:C5681307 E (Exact mapping: the two concepts are equivalent) Retinal dystrophy MeSH:D058499 MedDRA:10038857 UMLS:C0854723 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71862 Inherited retinal disorder Category ORPHA:71862 MeSH:D058499 E (Exact mapping: the two concepts are equivalent) MedDRA:10038857 E (Exact mapping: the two concepts are equivalent) UMLS:C0854723 E (Exact mapping: the two concepts are equivalent) UMLS:C5681306 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=71864 Muscular channelopathy Category ORPHA:71864 UMLS:C5681306 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Uncombable hair syndrome OBSOLETE: Pili canulati ORPHA:719 A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. Orphanet ICD-10:Q93.5 ICD-11:LD90.0 MeSH:D017204 MedDRA:10049004 OMIM:105830 UMLS:C0162635 Not applicable Unknown Infancy Australia AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Estonia AND has_birth_prevalence_average_value : 1.8 AND has_birth_prevalence_range : 1-9 / 100 000 Estonia AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 8.3 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 7.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=72 Angelman syndrome ORPHA:72 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017204 E (Exact mapping: the two concepts are equivalent) MedDRA:10049004 E (Exact mapping: the two concepts are equivalent) OMIM:105830 E (Exact mapping: the two concepts are equivalent) UMLS:C0162635 E (Exact mapping: the two concepts are equivalent) An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle. Orphanet ICD-10:L67.8 ICD-11:ED73.Y UMLS:C5574653 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=720 Pili bifurcati ORPHA:720 ICD-10:L67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5574653 E (Exact mapping: the two concepts are equivalent) Alpha storage pool deficiency GPS Platelet alpha-granule deficiency Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. Orphanet ICD-10:D69.1 ICD-11:3B62.00 MeSH:D055652 OMIM:139090 OMIM:187900 UMLS:C0272302 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=721 Gray platelet syndrome ORPHA:721 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3B62.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D055652 E (Exact mapping: the two concepts are equivalent) OMIM:139090 E (Exact mapping: the two concepts are equivalent) OMIM:187900 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0272302 E (Exact mapping: the two concepts are equivalent) Plasminogen deficiency type 1 A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae. Orphanet ICD-10:L90.5 ICD-11:DA0D.3 OMIM:217090 UMLS:C0398621 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=722 Hypoplasminogenemia ORPHA:722 ICD-10:L90.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA0D.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:217090 E (Exact mapping: the two concepts are equivalent) UMLS:C0398621 E (Exact mapping: the two concepts are equivalent) Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus <i>Pneumocystis jiroveci</i>. The prevalence is unknown. <i>Pneumocystis jiroveci</i> is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole. Orphanet ICD-10:B48.5+ ICD-10:J17.2* ICD-11:1F2G MeSH:D011020 MedDRA:10035662 UMLS:C1535939 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=723 Pneumocystosis ORPHA:723 ICD-10:B48.5+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:J17.2* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:1F2G - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011020 E (Exact mapping: the two concepts are equivalent) MedDRA:10035662 E (Exact mapping: the two concepts are equivalent) UMLS:C1535939 E (Exact mapping: the two concepts are equivalent) IAEP Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection. Orphanet ICD-10:J82 ICD-11:CB02.10 UMLS:C4518469 Unknown All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=724 Idiopathic acute eosinophilic pneumonia ORPHA:724 ICD-10:J82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:CB02.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4518469 E (Exact mapping: the two concepts are equivalent) CSWS CSWSS syndrome Continuous spikes and waves during sleep Continuous spikes and waves during slow-wave sleep DEE-SWAS Epileptic encephalopathy with continuous spike-and-wave during slow sleep Epileptic encephalopathy with spike-and wave activation in sleep Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. Orphanet ICD-10:G40.4 ICD-11:8A62.Y MedDRA:10078827 OMIM:245570 UMLS:C5552731 Autosomal dominant Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=725 Developmental and epileptic encephalopathy with spike-wave activation in sleep ORPHA:725 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10078827 E (Exact mapping: the two concepts are equivalent) OMIM:245570 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5552731 E (Exact mapping: the two concepts are equivalent) Alpers progressive sclerosing poliodystrophy Alpers syndrome Progressive neuronal degeneration of childhood with liver disease A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. Orphanet ICD-10:G31.8 ICD-11:5C53.20 MedDRA:10062943 OMIM:203700 UMLS:C0205710 Autosomal recessive Adolescent Adult Childhood Infancy Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=726 Alpers-Huttenlocher syndrome ORPHA:726 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C53.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10062943 E (Exact mapping: the two concepts are equivalent) OMIM:203700 E (Exact mapping: the two concepts are equivalent) UMLS:C0205710 E (Exact mapping: the two concepts are equivalent) MPA Micropolyangiitis Microscopic polyarteritis A rare inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves. Orphanet ICD-10:M31.7 ICD-11:4A44.A0 MeSH:D055953 MedDRA:10063344 UMLS:C2347126 Not applicable Adult Childhood Australia AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 3.91 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_annual_incidence_average_value : 0.71 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 1.02 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 1.82 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000 Kuwait AND has_annual_incidence_average_value : 2.4 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 New Zealand AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 0.27 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 1.16 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 1.01 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 9.4 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 6.3 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2843 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=727 Microscopic polyangiitis ORPHA:727 ICD-10:M31.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A44.A0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D055953 E (Exact mapping: the two concepts are equivalent) MedDRA:10063344 E (Exact mapping: the two concepts are equivalent) UMLS:C2347126 E (Exact mapping: the two concepts are equivalent) Polychondropathia A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement. Orphanet ICD-10:M94.1 ICD-11:FB82.3 MeSH:D011081 MedDRA:10038304 UMLS:C0032453 Unknown All ages United Kingdom AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.52 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=728 Relapsing polychondritis ORPHA:728 ICD-10:M94.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB82.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011081 E (Exact mapping: the two concepts are equivalent) MedDRA:10038304 E (Exact mapping: the two concepts are equivalent) UMLS:C0032453 E (Exact mapping: the two concepts are equivalent) Acquired primary erythrocytosis Osler-Vaquez disease PV Polycythemia rubra vera Vaquez disease Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. Orphanet ICD-10:D45 ICD-11:2A20.4 MeSH:D011087 MedDRA:10036057 OMIM:263300 UMLS:C0032463 Not applicable All ages Europe AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=729 Polycythemia vera ORPHA:729 ICD-10:D45 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A20.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011087 E (Exact mapping: the two concepts are equivalent) MedDRA:10036057 E (Exact mapping: the two concepts are equivalent) OMIM:263300 E (Exact mapping: the two concepts are equivalent) UMLS:C0032463 E (Exact mapping: the two concepts are equivalent) Gorham disease Gorham syndrome Idiopathic massive osteolysis Progressive massive osteolysis Vanishing bone disease Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. Orphanet ICD-10:M89.5 ICD-11:FB86.2 MedDRA:10071283 OMIM:123880 UMLS:C0029438 Not applicable All ages Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73 Gorham-Stout disease ORPHA:73 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10071283 E (Exact mapping: the two concepts are equivalent) OMIM:123880 E (Exact mapping: the two concepts are equivalent) UMLS:C0029438 E (Exact mapping: the two concepts are equivalent) ADPKD A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). Orphanet ICD-10:Q61.2 ICD-11:GB81 MeSH:D016891 MedDRA:10036046 OMIM:173900 OMIM:600666 OMIM:613095 OMIM:618061 OMIM:620056 UMLS:C0085413 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 39.6 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=730 Autosomal dominant polycystic kidney disease ORPHA:730 ICD-10:Q61.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GB81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016891 E (Exact mapping: the two concepts are equivalent) MedDRA:10036046 E (Exact mapping: the two concepts are equivalent) OMIM:173900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600666 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613095 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618061 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620056 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0085413 E (Exact mapping: the two concepts are equivalent) IDI Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73014 Intractable diarrhea of infancy Category ORPHA:73014 AR-PKD A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys. Orphanet ICD-10:Q61.1 ICD-11:GB8Y MeSH:D017044 MedDRA:10036047 OMIM:263200 OMIM:617610 UMLS:C0085548 Autosomal recessive All ages Europe AND has_point_prevalence_range : Unknown Germany AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=731 Autosomal recessive polycystic kidney disease ORPHA:731 ICD-10:Q61.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GB8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017044 E (Exact mapping: the two concepts are equivalent) MedDRA:10036047 E (Exact mapping: the two concepts are equivalent) OMIM:263200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617610 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0085548 E (Exact mapping: the two concepts are equivalent) A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder. Orphanet ICD-10:M33.2 ICD-11:4A41.1 MeSH:D017285 MedDRA:10036102 UMLS:C0085655 Not applicable Adult Elderly Argentina AND has_annual_incidence_average_value : 0.75 AND has_annual_incidence_range : 1-9 / 1 000 000 Argentina AND has_point_prevalence_average_value : 7.2 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_annual_incidence_average_value : 0.41 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 7.2 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.585 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.39 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=732 Polymyositis ORPHA:732 ICD-10:M33.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A41.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017285 E (Exact mapping: the two concepts are equivalent) MedDRA:10036102 E (Exact mapping: the two concepts are equivalent) UMLS:C0085655 E (Exact mapping: the two concepts are equivalent) Aplasia of the Müllerian ducts Müllerian duct failure MeSH:C537371 UMLS:C0431637 Autosomal dominant Adolescent Adult Europe AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73217 Müllerian aplasia Clinical group ORPHA:73217 MeSH:C537371 E (Exact mapping: the two concepts are equivalent) UMLS:C0431637 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome OMIM:309580 X-linked intellectual disability-hypotonic face syndrome ORPHA:73220 OMIM:309580 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Orphanet ICD-10:Q87.8 UMLS:C4303570 Unknown Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73223 Global developmental delay-osteopenia-ectodermal defect syndrome ORPHA:73223 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303570 E (Exact mapping: the two concepts are equivalent) A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. Orphanet ICD-10:N25.8 UMLS:C4304399 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73224 Kidney tubulopathy-dilated cardiomyopathy syndrome ORPHA:73224 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304399 E (Exact mapping: the two concepts are equivalent) Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye. Orphanet ICD-10:I99 ICD-11:GB4Y MeSH:C567088 OMIM:611773 UMLS:C2673195 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73229 HANAC syndrome ORPHA:73229 ICD-10:I99 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567088 E (Exact mapping: the two concepts are equivalent) OMIM:611773 E (Exact mapping: the two concepts are equivalent) UMLS:C2673195 E (Exact mapping: the two concepts are equivalent) A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. Orphanet ICD-10:Q79.8 ICD-11:FB83.0Y UMLS:C4302826 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73230 Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB83.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302826 E (Exact mapping: the two concepts are equivalent) A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Orphanet ICD-10:G12.8 UMLS:C4509964 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome ORPHA:73245 ICD-10:G12.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509964 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Orphanet ICD-10:Q87.8 UMLS:C4304402 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ORPHA:73246 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304402 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: EoE This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-11:DA24.1 NON RARE IN EUROPE: Eosinophilic esophagitis ORPHA:73247 ICD-11:DA24.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good. Orphanet ICD-10:D33.0 ICD-11:2A00.3 UMLS:C0206719 Not applicable Adolescent Adult Childhood Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73256 Central neurocytoma ORPHA:73256 ICD-10:D33.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0206719 E (Exact mapping: the two concepts are equivalent) A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison's disease. The infectious agent, <i>Paracoccidioides brasiliensis</i>, is a fungus limited to Latin America. Orphanet ICD-10:B41.0 ICD-10:B41.7 ICD-10:B41.8 ICD-10:B41.9 ICD-11:1F2E ICD-11:1F2E.0 ICD-11:1F2E.1 ICD-11:1F2E.Y MeSH:D010229 MedDRA:10061906 UMLS:C0030409 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73260 Paracoccidioidomycosis ORPHA:73260 ICD-10:B41.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B41.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B41.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B41.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2E - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2E.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2E.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2E.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010229 E (Exact mapping: the two concepts are equivalent) MedDRA:10061906 E (Exact mapping: the two concepts are equivalent) UMLS:C0030409 E (Exact mapping: the two concepts are equivalent) Mucormycosis A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality. Orphanet ICD-10:B46.0 ICD-10:B46.1 ICD-10:B46.2 ICD-10:B46.3 ICD-10:B46.4 ICD-10:B46.5 ICD-10:B46.8 ICD-10:B46.9 ICD-11:1F2C MeSH:D020096 MedDRA:10061418 UMLS:C0043541 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73263 Zygomycosis ORPHA:73263 ICD-10:B46.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B46.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B46.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B46.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B46.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B46.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B46.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B46.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020096 E (Exact mapping: the two concepts are equivalent) MedDRA:10061418 E (Exact mapping: the two concepts are equivalent) UMLS:C0043541 E (Exact mapping: the two concepts are equivalent) Hypernychthemeral syndrome A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations. Orphanet ICD-10:G47.2 ICD-11:7A6Z UMLS:C5545668 Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73267 Non-24-hour sleep-wake syndrome ORPHA:73267 ICD-10:G47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:7A6Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5545668 E (Exact mapping: the two concepts are equivalent) A rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia. Orphanet ICD-10:D69.8 ICD-11:3B62.Y OMIM:614200 OMIM:614201 UMLS:C5190736 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73271 Bleeding diathesis due to a collagen receptor defect ORPHA:73271 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614201 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5190736 E (Exact mapping: the two concepts are equivalent) Growth delay-deafness-intellectual disability syndrome Growth delay-hearing loss-intellectual disability syndrome IGF-1 deficiency Primary insulin-like growth factor deficiency Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. Orphanet ICD-10:E34.3 ICD-11:5A61.0 MeSH:C563867 OMIM:608747 UMLS:C1837475 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73272 Growth delay due to insulin-like growth factor type 1 deficiency ORPHA:73272 ICD-10:E34.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563867 E (Exact mapping: the two concepts are equivalent) OMIM:608747 E (Exact mapping: the two concepts are equivalent) UMLS:C1837475 E (Exact mapping: the two concepts are equivalent) Resistance to IGF-1 Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). Orphanet ICD-10:E34.3 ICD-11:5A61.0 MeSH:C564816 OMIM:270450 UMLS:C1849157 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73273 Growth delay due to insulin-like growth factor I resistance ORPHA:73273 ICD-10:E34.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564816 E (Exact mapping: the two concepts are equivalent) OMIM:270450 E (Exact mapping: the two concepts are equivalent) UMLS:C1849157 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare hemorrhagic disorder due to an acquired coagulation factor defect OBSOLETE: Acquired hemophilia ORPHA:73274 Colorectal adenomatous polyposis FAP Familial polyposis coli Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. Orphanet ICD-10:D12.6 ICD-11:2B90.Y MeSH:D011125 MedDRA:10056981 OMIM:175100 OMIM:608456 OMIM:616415 OMIM:617100 UMLS:C0032580 Autosomal dominant Autosomal recessive Adult Australia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 19.0 AND has_annual_incidence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 4.65 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 15.8 AND has_annual_incidence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 2.63 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 8.6 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=733 Familial adenomatous polyposis ORPHA:733 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011125 E (Exact mapping: the two concepts are equivalent) MedDRA:10056981 E (Exact mapping: the two concepts are equivalent) OMIM:175100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608456 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616415 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617100 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0032580 E (Exact mapping: the two concepts are equivalent) Alpha dense granule deficiency Combined alpha-delta platelet storage pool deficiency A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia. Orphanet ICD-10:D69.1 ICD-11:3B62.4 OMIM:185050 UMLS:C5680090 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=734 Alpha delta granule deficiency ORPHA:734 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:185050 E (Exact mapping: the two concepts are equivalent) UMLS:C5680090 E (Exact mapping: the two concepts are equivalent) Acute intoxication by Blighia sapida Jamaican vomiting sickness Jamaican vomiting syndrome A rare disorder due to poisoning caused by the ingestion of unripe Blighia sapida fruits, clinically characterized by toxic hypoglycaemia and inhibition of neoglucogenesis. Orphanet ICD-10:T62.2 UMLS:C0274888 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=73423 Acute ackee fruit intoxication ORPHA:73423 ICD-10:T62.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0274888 E (Exact mapping: the two concepts are equivalent) A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. Orphanet ICD-10:Q82.8 ICD-11:ED52 OMIM:175800 OMIM:175900 UMLS:C0949506 Autosomal dominant Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=735 Porokeratosis of Mibelli ORPHA:735 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:175800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:175900 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0949506 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Punctate palmoplantar keratoderma type 2 Palmoplantar porokeratosis of Mantoux ORPHA:736 Palmar, plantar and disseminated porokeratosis A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones. Orphanet ICD-10:Q82.8 ICD-11:EC20.32 OMIM:175850 UMLS:C0162838 Autosomal dominant X-linked dominant Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=737 Porokeratosis plantaris palmaris et disseminata ORPHA:737 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:175850 E (Exact mapping: the two concepts are equivalent) UMLS:C0162838 E (Exact mapping: the two concepts are equivalent) A group of rare hereditary metabolic diseases characterized by intermittent neurovisceral manifestations and/or skin lesions. Orphanet ICD-10:E80.1 ICD-10:E80.2 ICD-11:5C58.1 MeSH:D011164 MedDRA:10036181 UMLS:C0032708 Autosomal dominant Autosomal recessive All ages Denmark AND has_annual_incidence_average_value : 0.52 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_lifetime_prevalence_average_value : 0.7 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 5.25 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=738 Porphyria Clinical group ORPHA:738 ICD-10:E80.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E80.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C58.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011164 E (Exact mapping: the two concepts are equivalent) MedDRA:10036181 E (Exact mapping: the two concepts are equivalent) UMLS:C0032708 E (Exact mapping: the two concepts are equivalent) Prader-Labhart-Willi syndrome A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems. Orphanet ICD-10:Q87.1 ICD-11:LD90.3 MeSH:D011218 MedDRA:10036476 OMIM:176270 OMIM:615547 UMLS:C0032897 Autosomal dominant Not applicable Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.229 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 4.76 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=739 Prader-Willi syndrome ORPHA:739 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011218 E (Exact mapping: the two concepts are equivalent) MedDRA:10036476 E (Exact mapping: the two concepts are equivalent) OMIM:176270 E (Exact mapping: the two concepts are equivalent) OMIM:615547 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0032897 E (Exact mapping: the two concepts are equivalent) A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm <i>Angiostrongylus cantonensis</i> and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. Orphanet ICD-10:B81.3 ICD-10:B83.2 ICD-11:1F60 ICD-11:1F60.0 ICD-11:1F60.1 ICD-11:1F60.Y MeSH:C536369 MedDRA:10069517 UMLS:C0392662 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=74 Angiostrongyliasis ORPHA:74 ICD-10:B81.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B83.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F60.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F60.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F60.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536369 E (Exact mapping: the two concepts are equivalent) MedDRA:10069517 E (Exact mapping: the two concepts are equivalent) UMLS:C0392662 E (Exact mapping: the two concepts are equivalent) HGPS Progeria Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). Orphanet ICD-10:E34.8 ICD-11:LD2B MeSH:D011371 MedDRA:10036794 OMIM:176670 UMLS:C0033300 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 0.025 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.005 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=740 Hutchinson-Gilford progeria syndrome ORPHA:740 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011371 E (Exact mapping: the two concepts are equivalent) MedDRA:10036794 E (Exact mapping: the two concepts are equivalent) OMIM:176670 E (Exact mapping: the two concepts are equivalent) UMLS:C0033300 E (Exact mapping: the two concepts are equivalent) A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure. Orphanet ICD-10:I34.1 OMIM:157700 OMIM:607829 OMIM:610840 UMLS:C0340364 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=741 Familial mitral valve prolapse ORPHA:741 ICD-10:I34.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:157700 E (Exact mapping: the two concepts are equivalent) OMIM:607829 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610840 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0340364 E (Exact mapping: the two concepts are equivalent) Hyperimidodipeptiduria Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. Orphanet ICD-10:E72.8 ICD-11:5C50.F0 MeSH:D056732 OMIM:170100 UMLS:C0268532 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Canada AND has_birth_prevalence_average_value : 0.08 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 90.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=742 Prolidase deficiency ORPHA:742 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.F0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D056732 E (Exact mapping: the two concepts are equivalent) OMIM:170100 E (Exact mapping: the two concepts are equivalent) UMLS:C0268532 E (Exact mapping: the two concepts are equivalent) Autosomal recessive thrombophilia due to congenital protein S deficiency An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. Orphanet ICD-10:D68.5 ICD-11:3B61.0Y OMIM:612336 OMIM:614514 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=743 Severe hereditary thrombophilia due to congenital protein S deficiency ORPHA:743 ICD-10:D68.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612336 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614514 BTNT (ORPHAcode is broader than the targeted code used to represent it) Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:D016715 MedDRA:10074067 OMIM:176920 UMLS:C0085261 Not applicable Infancy Europe AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=744 Proteus syndrome ORPHA:744 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D016715 E (Exact mapping: the two concepts are equivalent) MedDRA:10074067 E (Exact mapping: the two concepts are equivalent) OMIM:176920 E (Exact mapping: the two concepts are equivalent) UMLS:C0085261 E (Exact mapping: the two concepts are equivalent) Autosomal recessive thrombophilia due to PC deficiency Autosomal recessive thrombophilia due to congenital protein C deficiency A rare inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. Orphanet ICD-10:D68.2 ICD-11:3B61.0Y OMIM:176860 OMIM:612304 UMLS:C5679824 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=745 Severe hereditary thrombophilia due to congenital protein C deficiency ORPHA:745 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:176860 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612304 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5679824 E (Exact mapping: the two concepts are equivalent) TFP deficiency TFPD A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. Orphanet ICD-10:G71.3 ICD-11:5C52.01 MeSH:C566945 OMIM:609015 UMLS:C1969443 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=746 Mitochondrial trifunctional protein deficiency ORPHA:746 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566945 E (Exact mapping: the two concepts are equivalent) OMIM:609015 E (Exact mapping: the two concepts are equivalent) UMLS:C1969443 E (Exact mapping: the two concepts are equivalent) Autoimmune PAP aPAP A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency. Orphanet ICD-10:J84.0 ICD-11:CB04.31 OMIM:610910 UMLS:C1970472 Multigenic/multifactorial Not applicable Adolescent Adult Childhood Japan AND has_annual_incidence_average_value : 0.165 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 2.66 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.687 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 2.66 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=747 Autoimmune pulmonary alveolar proteinosis ORPHA:747 ICD-10:J84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:CB04.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610910 E (Exact mapping: the two concepts are equivalent) UMLS:C1970472 E (Exact mapping: the two concepts are equivalent) Idiopathic infection caused by BCG or atypical mycobacteria MSMD Mendelian susceptibility to atypical mycobacteria Mendelian susceptibility to mycobacterial infections Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. Orphanet UMLS:C3266863 Autosomal dominant Autosomal recessive X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=748 Mendelian susceptibility to mycobacterial diseases Clinical group ORPHA:748 UMLS:C3266863 E (Exact mapping: the two concepts are equivalent) A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported. Orphanet ICD-10:D68.8 ICD-11:3B15 MeSH:C562725 OMIM:612423 UMLS:C0272339 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=749 Congenital prekallikrein deficiency ORPHA:749 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B15 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562725 E (Exact mapping: the two concepts are equivalent) OMIM:612423 E (Exact mapping: the two concepts are equivalent) UMLS:C0272339 E (Exact mapping: the two concepts are equivalent) Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. Orphanet ICD-10:Q77.8 ICD-11:LD24.60 MeSH:C535819 OMIM:177170 UMLS:C0410538 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=750 Pseudoachondroplasia ORPHA:750 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535819 E (Exact mapping: the two concepts are equivalent) OMIM:177170 E (Exact mapping: the two concepts are equivalent) UMLS:C0410538 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency ORPHA:751 ICD-10:B87 MeSH:D009198 MedDRA:10028586 UMLS:C0027030 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75110 Myiasis Category ORPHA:75110 ICD-10:B87 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009198 E (Exact mapping: the two concepts are equivalent) MedDRA:10028586 E (Exact mapping: the two concepts are equivalent) UMLS:C0027030 E (Exact mapping: the two concepts are equivalent) 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia. Orphanet ICD-10:E29.1 ICD-11:LD2A.3 MeSH:C537805 OMIM:264300 UMLS:C0268296 Autosomal recessive Adolescent Neonatal Netherlands AND has_birth_prevalence_average_value : 0.68 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.68 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752 ICD-10:E29.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537805 E (Exact mapping: the two concepts are equivalent) OMIM:264300 E (Exact mapping: the two concepts are equivalent) UMLS:C0268296 E (Exact mapping: the two concepts are equivalent) A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting. Orphanet ICD-10:E75.5 ICD-11:5C56.0Y MeSH:D015223 MedDRA:10053687 OMIM:278000 UMLS:C0043208 Autosomal recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75233 Wolman disease Clinical subtype ORPHA:75233 ICD-10:E75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015223 E (Exact mapping: the two concepts are equivalent) MedDRA:10053687 E (Exact mapping: the two concepts are equivalent) OMIM:278000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0043208 E (Exact mapping: the two concepts are equivalent) Cholesterol ester storage disease A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia. Orphanet ICD-10:E75.5 ICD-11:5C56.0Y MeSH:D015217 OMIM:278000 UMLS:C0008384 Autosomal recessive Adolescent Adult Childhood Germany AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75234 Cholesteryl ester storage disease Clinical subtype ORPHA:75234 ICD-10:E75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015217 E (Exact mapping: the two concepts are equivalent) OMIM:278000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0008384 E (Exact mapping: the two concepts are equivalent) Familial or idiopathic restrictive cardiomyopathy A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles. Orphanet ICD-10:I42.5 ICD-11:BC43.2Y OMIM:115210 OMIM:609578 OMIM:612422 OMIM:615248 OMIM:617047 OMIM:619433 UMLS:C5680139 Autosomal dominant Autosomal recessive Not applicable All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75249 Familial isolated restrictive cardiomyopathy ORPHA:75249 ICD-10:I42.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:BC43.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:115210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609578 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612422 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615248 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:617047 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:619433 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680139 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Pseudovaginal perineoscrotal hypospadias Steroid 5-alpha-reductase 2 deficiency A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. Orphanet ICD-10:E29.1 ICD-11:LD2A.3 MeSH:C535830 MedDRA:10000029 OMIM:264600 UMLS:C0268297 Autosomal recessive Adolescent Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency ORPHA:753 ICD-10:E29.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535830 E (Exact mapping: the two concepts are equivalent) MedDRA:10000029 E (Exact mapping: the two concepts are equivalent) OMIM:264600 E (Exact mapping: the two concepts are equivalent) UMLS:C0268297 E (Exact mapping: the two concepts are equivalent) Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Orphanet ICD-10:M85.8 ICD-11:LD2F.1Y MeSH:C536064 OMIM:609993 UMLS:C4302815 Unknown Adolescent Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536064 E (Exact mapping: the two concepts are equivalent) OMIM:609993 E (Exact mapping: the two concepts are equivalent) UMLS:C4302815 E (Exact mapping: the two concepts are equivalent) Familial retinal arteriolar tortuosity Retinal arteriolar tortuosity Retinal hemorrhage with vascular tortuosity Tortuosity of retinal arteries A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Orphanet ICD-10:H35.0 OMIM:180000 UMLS:C0423401 Autosomal dominant Not applicable Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75326 Familial isolated retinal arteriolar tortuosity ORPHA:75326 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:180000 E (Exact mapping: the two concepts are equivalent) UMLS:C0423401 E (Exact mapping: the two concepts are equivalent) CAPE dystrophy CAPED Central areolar pigment epithelial dystrophy Central retinal pigment epithelial dystrophy MCDR1 NCMD North Carolina macular dystrophy, retinal 1 Progressive foveal dystrophy A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination. Orphanet ICD-10:H35.5 ICD-11:9B75.Y MeSH:C537835 OMIM:136550 UMLS:C0730294 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75327 North Carolina macular dystrophy ORPHA:75327 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B75.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537835 E (Exact mapping: the two concepts are equivalent) OMIM:136550 E (Exact mapping: the two concepts are equivalent) UMLS:C0730294 E (Exact mapping: the two concepts are equivalent) CRAPB PBCRA A rare genetic isolated chorioretinal dystrophy characterized by distinctive slowly progressing chorioretinal atrophic lesions inducing significant visual impairment. There are three clinical stages. Atrophic macular lesion and nasal subretinal deposits are evident soon after birth (stage 1), the macular lesions progress beyond the retinal vascular arcades, and the foci of nasal atrophy coalesce into a confluent white lesion (stage 2), and marked expansion of both the macular and the nasal atrophic lesions toward the optic disc is observed (stage 3). Patients may also present with photophobia, nystagmus and myopia. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C535356 OMIM:600790 UMLS:C1833321 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75373 Progressive bifocal chorioretinal atrophy ORPHA:75373 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535356 E (Exact mapping: the two concepts are equivalent) OMIM:600790 E (Exact mapping: the two concepts are equivalent) UMLS:C1833321 E (Exact mapping: the two concepts are equivalent) PERRS Prolonged electroretinal response suppression A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected. Orphanet ICD-10:H53.8 ICD-11:9D7Y MeSH:C564243 OMIM:608415 UMLS:C1842073 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75374 Bradyopsia ORPHA:75374 ICD-10:H53.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9D7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564243 E (Exact mapping: the two concepts are equivalent) OMIM:608415 E (Exact mapping: the two concepts are equivalent) UMLS:C1842073 E (Exact mapping: the two concepts are equivalent) DHRD Dominant drusen Dominant radial drusen Doyne honeycomb retinal dystrophy Malattia leventinese A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C535602 OMIM:126600 OMIM:126700 UMLS:C1832174 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75376 Familial drusen ORPHA:75376 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535602 E (Exact mapping: the two concepts are equivalent) OMIM:126600 E (Exact mapping: the two concepts are equivalent) OMIM:126700 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1832174 E (Exact mapping: the two concepts are equivalent) Areolar atrophy of the macula CACD Central areolar choroidal sclerosis A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. Orphanet ICD-10:H31.2 ICD-11:9B61 MeSH:C535358 OMIM:215500 OMIM:613105 OMIM:613144 UMLS:C1536451 Autosomal dominant Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 3.33 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75377 Central areolar choroidal dystrophy ORPHA:75377 ICD-10:H31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535358 E (Exact mapping: the two concepts are equivalent) OMIM:215500 E (Exact mapping: the two concepts are equivalent) OMIM:613105 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613144 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1536451 E (Exact mapping: the two concepts are equivalent) Oligocone syndrome A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal. Orphanet ICD-10:H35.8 ICD-11:9B70 UMLS:C4302876 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75378 Oligocone trichromacy ORPHA:75378 ICD-10:H35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302876 E (Exact mapping: the two concepts are equivalent) Autosomal dominant cystoid macular edema DCMD Familial macular edema Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis. Orphanet ICD-10:H35.5 OMIM:153880 UMLS:C0024440 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 97.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75381 Cystoid macular dystrophy ORPHA:75381 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:153880 E (Exact mapping: the two concepts are equivalent) UMLS:C0024440 E (Exact mapping: the two concepts are equivalent) Congenital stationary night blindness, Oguchi type Oguchi syndrome Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. Orphanet ICD-10:H53.6 ICD-11:9B70 MeSH:C537743 OMIM:258100 OMIM:613411 UMLS:C1306122 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75382 Oguchi disease ORPHA:75382 ICD-10:H53.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537743 E (Exact mapping: the two concepts are equivalent) OMIM:258100 E (Exact mapping: the two concepts are equivalent) OMIM:613411 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1306122 E (Exact mapping: the two concepts are equivalent) Goossens-Devriendt syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. Orphanet ICD-10:Q87.8 UMLS:C4303545 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303545 E (Exact mapping: the two concepts are equivalent) Primary immunodeficiency due to MCM4 deficiency A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer. Orphanet ICD-10:D84.8 OMIM:609981 UMLS:C4518328 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ORPHA:75391 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609981 E (Exact mapping: the two concepts are equivalent) UMLS:C4518328 E (Exact mapping: the two concepts are equivalent) EDS VIII Ehlers-Danlos syndrome type 8 Ehlers-Danlos syndrome, periodontitis type Periodontal EDS pEDS A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:C562626 OMIM:130080 OMIM:617174 UMLS:C0268347 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 62.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75392 Periodontal Ehlers-Danlos syndrome ORPHA:75392 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562626 E (Exact mapping: the two concepts are equivalent) OMIM:130080 E (Exact mapping: the two concepts are equivalent) OMIM:617174 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268347 E (Exact mapping: the two concepts are equivalent) AIS Androgen resistance syndrome Goldberg-Maxwell syndrome Morris syndrome Testicular feminization syndrome A rare difference of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Orphanet ICD-10:E34.5 ICD-11:LD2A.4 MeSH:D013734 MedDRA:10056292 UMLS:C0039585 X-linked recessive Antenatal Neonatal Denmark AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 1.01 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=754 Androgen insensitivity syndrome Clinical group ORPHA:754 ICD-10:E34.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD2A.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013734 E (Exact mapping: the two concepts are equivalent) MedDRA:10056292 E (Exact mapping: the two concepts are equivalent) UMLS:C0039585 E (Exact mapping: the two concepts are equivalent) B4GALT7-related spondylodysplastic EDS EDS progeroid type 1 EDS with short stature and limb anomalies spEDS-B4GALT7 A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B4GALT7</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:C536201 OMIM:130070 UMLS:C5680137 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype ORPHA:75496 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536201 E (Exact mapping: the two concepts are equivalent) OMIM:130070 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C5680137 E (Exact mapping: the two concepts are equivalent) EDS V Ehlers-Danlos syndrome type 5 X-linked EDS A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y MeSH:C536197 OMIM:314400 UMLS:C0268341 X-linked recessive Adolescent Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75497 X-linked Ehlers-Danlos syndrome ORPHA:75497 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536197 E (Exact mapping: the two concepts are equivalent) OMIM:314400 E (Exact mapping: the two concepts are equivalent) UMLS:C0268341 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency A rare 46,XY difference of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias. Orphanet ICD-10:Q56.1 ICD-11:LD2A.3 MeSH:C562567 MedDRA:10024406 OMIM:238320 UMLS:C0860158 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=755 Leydig cell hypoplasia ORPHA:755 ICD-10:Q56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562567 E (Exact mapping: the two concepts are equivalent) MedDRA:10024406 E (Exact mapping: the two concepts are equivalent) OMIM:238320 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0860158 E (Exact mapping: the two concepts are equivalent) OBSOLETE: EDS X OBSOLETE: Ehlers-Danlos syndrome type 10 OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality OBSOLETE: Ehlers-Danlos syndrome, fibronectin-deficient This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Classical Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type ORPHA:75501 Phlebectatic osteohypoplastic angiodysplasia Servelle-Martorell syndrome A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. Orphanet ICD-10:Q87.2 UMLS:C4707561 Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75508 Angioosteohypotrophic syndrome ORPHA:75508 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707561 E (Exact mapping: the two concepts are equivalent) XLSA X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. Orphanet ICD-10:D64.0 ICD-11:3A72.00 MeSH:C536761 OMIM:300751 UMLS:C4551511 X-linked recessive All ages Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75563 X-linked sideroblastic anemia ORPHA:75563 ICD-10:D64.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536761 E (Exact mapping: the two concepts are equivalent) OMIM:300751 E (Exact mapping: the two concepts are equivalent) UMLS:C4551511 E (Exact mapping: the two concepts are equivalent) AISA Primary acquired sideroblastic anemia RARS Refractory anemia with ringed sideroblasts A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Orphanet ICD-10:D64.3 ICD-11:2A33 UMLS:C4016601 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75564 Acquired idiopathic sideroblastic anemia ORPHA:75564 ICD-10:D64.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A33 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4016601 E (Exact mapping: the two concepts are equivalent) Davies disease TEMF Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardiomyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition. Orphanet ICD-10:I42.3 ICD-11:BC43.20 UMLS:C2882252 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75565 Tropical endomyocardial fibrosis ORPHA:75565 ICD-10:I42.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:BC43.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C2882252 E (Exact mapping: the two concepts are equivalent) Eosinophilic endocarditis A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. Orphanet ICD-10:I42.3 ICD-11:BC43.20 MedDRA:10052841 UMLS:C0206143 Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75566 Loeffler endocarditis ORPHA:75566 ICD-10:I42.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:BC43.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10052841 E (Exact mapping: the two concepts are equivalent) UMLS:C0206143 E (Exact mapping: the two concepts are equivalent) PPFG Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments. Orphanet ICD-10:G31.8 ICD-11:8A0Y UMLS:C4275078 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75567 Primary progressive freezing gait ORPHA:75567 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275078 E (Exact mapping: the two concepts are equivalent) PHA type 1 PHA1 A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration. Orphanet ICD-10:N25.8 ICD-11:GB90.41 OMIM:177735 OMIM:264350 UMLS:C0268436 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : Unknown United Kingdom AND has_birth_prevalence_average_value : 2.12 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=756 Pseudohypoaldosteronism type 1 ORPHA:756 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:177735 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:264350 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268436 E (Exact mapping: the two concepts are equivalent) Chloride shunt syndrome Familial hyperkalemic hypertension Gordon hyperkalemia-hypertension syndrome Hyperkalemia-hypertension syndrome, Gordon type Hypertensive hyperkalemia Mineralocorticoid resistant hyperkalemia PHA2 PHAII Spitzer-Weinstein syndrome A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR). Orphanet ICD-10:I15.1 ICD-11:BA04.Y OMIM:145260 OMIM:614491 OMIM:614492 OMIM:614495 OMIM:614496 UMLS:C1449844 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 180.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=757 Pseudohypoaldosteronism type 2 ORPHA:757 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:145260 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614491 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614492 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614495 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614496 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1449844 E (Exact mapping: the two concepts are equivalent) Trichothiodystrophy-osteosclerosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy SIBIDS syndrome ORPHA:75789 Trichorrhexis nodosa syndrome Trichothiodystrophy type C Trichothiodystrophy-neurocutaneous syndrome syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy Pollitt syndrome ORPHA:75790 Gronblad-Strandberg-Touraine syndrome PXE A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls. Orphanet ICD-10:Q82.8 ICD-11:EC40 MeSH:D011561 MedDRA:10037150 OMIM:177850 OMIM:264800 UMLS:C0033847 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=758 Pseudoxanthoma elasticum ORPHA:758 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EC40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011561 E (Exact mapping: the two concepts are equivalent) MedDRA:10037150 E (Exact mapping: the two concepts are equivalent) OMIM:177850 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:264800 E (Exact mapping: the two concepts are equivalent) UMLS:C0033847 E (Exact mapping: the two concepts are equivalent) UCMD Ullrich scleroatonic muscular dystrophy A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood. Orphanet ICD-10:G71.2 ICD-11:8C70.6 OMIM:254090 OMIM:616470 UMLS:C4551860 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75840 Ullrich congenital muscular dystrophy ORPHA:75840 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:254090 E (Exact mapping: the two concepts are equivalent) OMIM:616470 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551860 E (Exact mapping: the two concepts are equivalent) A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association. Orphanet ICD-10:Q93.5 ICD-11:LD44.60 UMLS:C4304514 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75857 6q terminal deletion syndrome ORPHA:75857 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304514 E (Exact mapping: the two concepts are equivalent) Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Orphanet ICD-10:Q87.8 ICD-11:9B70 MeSH:C536984 OMIM:610156 UMLS:C1857802 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75858 MORM syndrome ORPHA:75858 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536984 E (Exact mapping: the two concepts are equivalent) OMIM:610156 E (Exact mapping: the two concepts are equivalent) UMLS:C1857802 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: CPP NON RARE IN EUROPE: Gonadotropin-dependant precocious puberty This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-11:5A60.3 NON RARE IN EUROPE: Central precocious puberty ORPHA:759 ICD-11:5A60.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Anguilluliasis Anguillulosis A parasitosis caused by the intestinal nematode <i>Strongyloides stercoralis</i> (round worm). Orphanet ICD-10:B78.0 ICD-10:B78.1 ICD-10:B78.7 ICD-10:B78.9 ICD-11:1F6B MeSH:D013322 MedDRA:10042254 UMLS:C0038463 Not applicable All ages Spain AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=76 Strongyloidiasis ORPHA:76 ICD-10:B78.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B78.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B78.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B78.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F6B - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013322 E (Exact mapping: the two concepts are equivalent) MedDRA:10042254 E (Exact mapping: the two concepts are equivalent) UMLS:C0038463 E (Exact mapping: the two concepts are equivalent) PNP deficiency PNPase deficiency A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. Orphanet ICD-10:D81.5 ICD-11:4A01.1Y MeSH:C562587 MedDRA:10086665 OMIM:613179 UMLS:C0268125 Autosomal recessive Adolescent Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 72.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=760 Purine nucleoside phosphorylase deficiency ORPHA:760 ICD-10:D81.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562587 E (Exact mapping: the two concepts are equivalent) MedDRA:10086665 E (Exact mapping: the two concepts are equivalent) OMIM:613179 E (Exact mapping: the two concepts are equivalent) UMLS:C0268125 E (Exact mapping: the two concepts are equivalent) Anaphylactoid purpura Henoch-Schönlein purpura IgA vasculitis Purpura rheumatica Rheumatoid purpura A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes. Orphanet ICD-10:D69.0 ICD-11:4A44.92 MeSH:D011695 MedDRA:10082960 UMLS:C0034152 Not applicable Childhood Croatia AND has_annual_incidence_average_value : 6.79 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 30.0 AND has_annual_incidence_range : 1-5 / 10 000 Korea, Republic of AND has_annual_incidence_average_value : 55.9 AND has_annual_incidence_range : 6-9 / 10 000 Netherlands AND has_annual_incidence_average_value : 6.1 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 17.55 AND has_annual_incidence_range : 1-5 / 10 000 Taiwan, Province of China AND has_annual_incidence_average_value : 12.9 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 13.0 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=761 Immunoglobulin A vasculitis ORPHA:761 ICD-10:D69.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A44.92 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011695 E (Exact mapping: the two concepts are equivalent) MedDRA:10082960 E (Exact mapping: the two concepts are equivalent) UMLS:C0034152 E (Exact mapping: the two concepts are equivalent) Pyknodysostosis Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones. Orphanet ICD-10:Q78.8 ICD-11:5C56.Y MeSH:D058631 MedDRA:10082973 OMIM:265800 UMLS:C0238402 Autosomal recessive Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=763 Pycnodysostosis ORPHA:763 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058631 E (Exact mapping: the two concepts are equivalent) MedDRA:10082973 E (Exact mapping: the two concepts are equivalent) OMIM:265800 E (Exact mapping: the two concepts are equivalent) UMLS:C0238402 E (Exact mapping: the two concepts are equivalent) Myositis purulenta tropica Myositis tropicans PM Suppurative myositis Tropical pyomyositis Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation. Orphanet ICD-10:M60.0 ICD-11:FB30 MeSH:D052880 MedDRA:10037652 UMLS:C0041188 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=764 Pyomyositis ORPHA:764 ICD-10:M60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:FB30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D052880 E (Exact mapping: the two concepts are equivalent) MedDRA:10037652 E (Exact mapping: the two concepts are equivalent) UMLS:C0041188 E (Exact mapping: the two concepts are equivalent) PDH PDHC Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms). Orphanet ICD-10:E74.4 ICD-11:5C53.02 MeSH:D015325 MedDRA:10084109 OMIM:245348 OMIM:245349 OMIM:246900 OMIM:312170 OMIM:608782 OMIM:614111 UMLS:C0034345 Autosomal recessive Not applicable X-linked dominant Childhood Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=765 Pyruvate dehydrogenase deficiency ORPHA:765 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C53.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015325 E (Exact mapping: the two concepts are equivalent) MedDRA:10084109 E (Exact mapping: the two concepts are equivalent) OMIM:245348 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:245349 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:246900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:312170 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608782 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614111 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0034345 E (Exact mapping: the two concepts are equivalent) Pyruvate kinase deficiency of erythrocytes A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia. Orphanet ICD-10:D55.2 ICD-11:3A10.Y MeSH:C564858 OMIM:266200 UMLS:C0340968 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 0.96 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 5.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=766 Hemolytic anemia due to red cell pyruvate kinase deficiency ORPHA:766 ICD-10:D55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564858 E (Exact mapping: the two concepts are equivalent) OMIM:266200 E (Exact mapping: the two concepts are equivalent) UMLS:C0340968 E (Exact mapping: the two concepts are equivalent) Küssmaul-Maier disease PAN Periarteritis nodosa A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract. Orphanet ICD-10:M30.0 ICD-11:4A44.4 MeSH:D010488 MedDRA:10036024 UMLS:C0031036 Not applicable All ages Australia AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 3.16 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 3.07 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.9 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=767 Polyarteritis nodosa ORPHA:767 ICD-10:M30.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A44.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010488 E (Exact mapping: the two concepts are equivalent) MedDRA:10036024 E (Exact mapping: the two concepts are equivalent) UMLS:C0031036 E (Exact mapping: the two concepts are equivalent) Congenital long QT syndrome LQTS A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. Orphanet ICD-11:BC65.0 MedDRA:10057926 OMIM:192500 OMIM:220400 OMIM:600919 OMIM:601005 OMIM:603830 OMIM:611818 OMIM:611819 OMIM:611820 OMIM:612347 OMIM:612955 OMIM:613485 OMIM:613688 OMIM:613693 OMIM:613695 OMIM:616247 OMIM:616249 OMIM:618447 UMLS:C1141890 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=768 Familial long QT syndrome Clinical group ORPHA:768 ICD-11:BC65.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10057926 E (Exact mapping: the two concepts are equivalent) OMIM:192500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:220400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600919 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601005 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611818 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611819 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611820 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612347 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612955 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613485 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613688 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613693 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613695 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616247 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616249 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618447 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1141890 E (Exact mapping: the two concepts are equivalent) A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). Orphanet ICD-10:E34.8 ICD-11:5A44 OMIM:262190 UMLS:C0271695 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=769 Rabson-Mendenhall syndrome ORPHA:769 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:262190 E (Exact mapping: the two concepts are equivalent) UMLS:C0271695 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Anterior segment developmental anomaly OBSOLETE: Aniridia ORPHA:77 Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. Orphanet ICD-10:A82.0 ICD-10:A82.1 ICD-10:A82.9 ICD-11:1C82 MeSH:D011818 MedDRA:10037742 UMLS:C0034494 Not applicable All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=770 Rabies ORPHA:770 ICD-10:A82.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A82.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A82.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C82 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011818 E (Exact mapping: the two concepts are equivalent) MedDRA:10037742 E (Exact mapping: the two concepts are equivalent) UMLS:C0034494 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Ulcerative proctitis NON RARE IN EUROPE: Ulcerative proctosigmoiditis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Ulcerative colitis ORPHA:771 IRD Mild PBD-ZSD Mild peroxisome biogenesis disorder-Zellweger spectrum disorder Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term). Orphanet ICD-10:G60.1 ICD-11:5C57.1 MeSH:D052919 OMIM:202370 OMIM:266510 OMIM:601539 OMIM:614863 OMIM:614867 OMIM:614871 OMIM:614873 OMIM:614877 OMIM:614885 OMIM:614920 OMIM:617370 UMLS:C0282527 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=772 Infantile Refsum disease ORPHA:772 ICD-10:G60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D052919 E (Exact mapping: the two concepts are equivalent) OMIM:202370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:266510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601539 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614863 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614867 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614871 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614873 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614877 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614885 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617370 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0282527 E (Exact mapping: the two concepts are equivalent) Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset. Orphanet ICD-11:BD93.0 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77240 Primary lymphedema Category ORPHA:77240 ICD-11:BD93.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Meige disease OBSOLETE: Lymphedema praecox ORPHA:77241 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Meige disease OBSOLETE: Lymphedema tarda ORPHA:77242 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. OMIM:614103 NON RARE IN EUROPE: Lipedema ORPHA:77243 OMIM:614103 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). Orphanet ICD-10:Q87.1 ICD-11:LD27.0Y OMIM:190350 OMIM:190351 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77258 Trichorhinophalangeal syndrome type 1 ORPHA:77258 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:190350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:190351 BTNT (ORPHAcode is broader than the targeted code used to represent it) Non-cerebral juvenile Gaucher disease Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MedDRA:10075697 OMIM:230800 UMLS:C1961835 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 2.48 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77259 Gaucher disease type 1 Clinical subtype ORPHA:77259 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10075697 E (Exact mapping: the two concepts are equivalent) OMIM:230800 E (Exact mapping: the two concepts are equivalent) UMLS:C1961835 E (Exact mapping: the two concepts are equivalent) Acute neuronopathic Gaucher disease Infantile cerebral Gaucher disease Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MedDRA:10075698 OMIM:230900 UMLS:C0268250 Autosomal recessive Infancy Europe AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77260 Gaucher disease type 2 Clinical subtype ORPHA:77260 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10075698 E (Exact mapping: the two concepts are equivalent) OMIM:230900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268250 E (Exact mapping: the two concepts are equivalent) Cerebral juvenile and adult form of Gaucher disease Chronic neuronopathic Gaucher disease Gaucher disease, subacute neuronopathic type Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term). Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MedDRA:10075699 OMIM:231000 UMLS:C0268251 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77261 Gaucher disease type 3 Clinical subtype ORPHA:77261 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10075699 E (Exact mapping: the two concepts are equivalent) OMIM:231000 E (Exact mapping: the two concepts are equivalent) UMLS:C0268251 E (Exact mapping: the two concepts are equivalent) Infantile neurovisceral ASMD NPD-A Niemann-Pick disease type A A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MeSH:D052536 OMIM:257200 UMLS:C0268242 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D052536 E (Exact mapping: the two concepts are equivalent) OMIM:257200 E (Exact mapping: the two concepts are equivalent) UMLS:C0268242 E (Exact mapping: the two concepts are equivalent) Chronic visceral ASMD NPD-B Niemann-Pick disease type B A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders. Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MeSH:D052537 OMIM:607616 UMLS:C0268243 Autosomal recessive Childhood Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77293 Chronic visceral acid sphingomyelinase deficiency ORPHA:77293 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D052537 E (Exact mapping: the two concepts are equivalent) OMIM:607616 E (Exact mapping: the two concepts are equivalent) UMLS:C0268243 E (Exact mapping: the two concepts are equivalent) Dentoleukoencephalopathy Leukodystrophy with oligodontia ICD-10:E75.2 ICD-11:8A44 MeSH:C564344 OMIM:607694 UMLS:C3502054 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77295 Odontoleukodystrophy Clinical subtype ORPHA:77295 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564344 E (Exact mapping: the two concepts are equivalent) OMIM:607694 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3502054 E (Exact mapping: the two concepts are equivalent) Hyperostosis frontalis interna A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women. Orphanet ICD-10:M85.2 ICD-11:FB80.3 MeSH:D006957 MedDRA:10081545 OMIM:144800 UMLS:C0020494 Autosomal dominant X-linked recessive Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77296 Morgagni-Stewart-Morel syndrome ORPHA:77296 ICD-10:M85.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:FB80.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006957 E (Exact mapping: the two concepts are equivalent) MedDRA:10081545 E (Exact mapping: the two concepts are equivalent) OMIM:144800 E (Exact mapping: the two concepts are equivalent) UMLS:C0020494 E (Exact mapping: the two concepts are equivalent) Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis. Orphanet ICD-10:D84.8 ICD-11:4A00.Y MeSH:C537839 MedDRA:10072223 OMIM:609628 UMLS:C1864997 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77297 Majeed syndrome ORPHA:77297 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537839 E (Exact mapping: the two concepts are equivalent) MedDRA:10072223 E (Exact mapping: the two concepts are equivalent) OMIM:609628 E (Exact mapping: the two concepts are equivalent) UMLS:C1864997 E (Exact mapping: the two concepts are equivalent) MCOPS3 Syndromic microphthalmia type 3 A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. Orphanet ICD-10:Q87.8 ICD-11:LD21.0 MeSH:C565948 OMIM:206900 UMLS:C1859773 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77298 Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565948 E (Exact mapping: the two concepts are equivalent) OMIM:206900 E (Exact mapping: the two concepts are equivalent) UMLS:C1859773 E (Exact mapping: the two concepts are equivalent) MCOPS10 MOBA syndrome Syndromic microphthalmia type 10 A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Orphanet ICD-10:Q11.2 ICD-11:LD21.0 MeSH:C566985 OMIM:611222 UMLS:C1970013 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77299 Microphthalmia-brain atrophy syndrome ORPHA:77299 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566985 E (Exact mapping: the two concepts are equivalent) OMIM:611222 E (Exact mapping: the two concepts are equivalent) UMLS:C1970013 E (Exact mapping: the two concepts are equivalent) Adult Refsum disease Classic Refsum disease HMSN 4 HMSN IV Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type IV Heredopathia atactica polyneuritiformis Phytanic-CoA hydroxylase deficiency A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. Orphanet ICD-10:G60.1 ICD-11:5C57.1 MeSH:D012035 MedDRA:10038275 OMIM:266500 OMIM:614879 UMLS:C0034960 Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 60.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=773 Refsum disease ORPHA:773 ICD-10:G60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D012035 E (Exact mapping: the two concepts are equivalent) MedDRA:10038275 E (Exact mapping: the two concepts are equivalent) OMIM:266500 E (Exact mapping: the two concepts are equivalent) OMIM:614879 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0034960 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. Orphanet ICD-10:Q87.0 UMLS:C4518478 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome ORPHA:77300 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518478 E (Exact mapping: the two concepts are equivalent) Microdeletion 9q22.3 Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. Orphanet ICD-10:Q93.5 ICD-11:LD44.90 MeSH:C579873 UMLS:C3711390 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 42.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77301 Monosomy 9q22.3 syndrome ORPHA:77301 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C579873 E (Exact mapping: the two concepts are equivalent) UMLS:C3711390 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Burn-McKeown syndrome Oculo-oto-facial dysplasia ORPHA:77302 OBSOLETE: CVID due to an intrinsic B cell defect This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Common variable immunodeficiency OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect ORPHA:77303 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using HTRA1-related cerebral small vessel disease OBSOLETE: Not NOTCH3-related small vessel disease of the brain ORPHA:77304 HHT Rendu-Osler disease Rendu-Osler-Weber disease An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations. Orphanet ICD-10:I78.0 ICD-11:LA90.00 MeSH:D013683 MedDRA:10019883 OMIM:175050 OMIM:187300 OMIM:600376 OMIM:610655 OMIM:615506 UMLS:C0039445 Autosomal dominant All ages Denmark AND has_point_prevalence_average_value : 15.6 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 43.5 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_point_prevalence_average_value : 16.25 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 19.4 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=774 Hereditary hemorrhagic telangiectasia ORPHA:774 ICD-10:I78.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA90.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013683 E (Exact mapping: the two concepts are equivalent) MedDRA:10019883 E (Exact mapping: the two concepts are equivalent) OMIM:175050 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:187300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610655 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615506 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0039445 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked non-syndromic intellectual disability OBSOLETE: X-linked intellectual disability, Martinez type ORPHA:775 X-linked intellectual disability with marfanoid habitus The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. Orphanet ICD-10:Q87.8 MeSH:C537724 OMIM:300799 OMIM:309520 UMLS:C0796022 X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=776 Lujan-Fryns syndrome ORPHA:776 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537724 E (Exact mapping: the two concepts are equivalent) OMIM:300799 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:309520 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796022 E (Exact mapping: the two concepts are equivalent) ICD-10:F70 ICD-10:F71 ICD-10:F72 ICD-10:F73 ICD-11:LD90.Y OMIM:300046 OMIM:300047 OMIM:300062 OMIM:300115 OMIM:300143 OMIM:300210 OMIM:300271 OMIM:300324 OMIM:300355 OMIM:300372 OMIM:300387 OMIM:300419 OMIM:300428 OMIM:300433 OMIM:300436 OMIM:300454 OMIM:300498 OMIM:300505 OMIM:300518 OMIM:300558 OMIM:300705 OMIM:300716 OMIM:300802 OMIM:300803 OMIM:300844 OMIM:300848 OMIM:300849 OMIM:300850 OMIM:300851 OMIM:300852 OMIM:300919 OMIM:300928 OMIM:300983 OMIM:300984 OMIM:301013 OMIM:309530 OMIM:309549 UMLS:C2931498 X-linked recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=777 X-linked non-syndromic intellectual disability Etiological subtype ORPHA:777 ICD-10:F70 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F71 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F72 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F73 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300046 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300047 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300062 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300115 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300143 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300271 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300324 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300355 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300372 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300387 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300419 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300428 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300433 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300436 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300454 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300498 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300505 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300518 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300558 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300705 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300716 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300802 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300803 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300844 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300848 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300849 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300850 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300851 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300852 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300919 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300928 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300983 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300984 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301013 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:309530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:309549 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931498 E (Exact mapping: the two concepts are equivalent) A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders. Orphanet ICD-10:F84.2 ICD-11:LD90.4 MeSH:D015518 MedDRA:10039000 OMIM:312750 UMLS:C0035372 X-linked dominant Infancy Australia AND has_birth_prevalence_average_value : 3.05 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : 1-9 / 100 000 Hong Kong AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=778 Rett syndrome ORPHA:778 ICD-10:F84.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD90.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015518 E (Exact mapping: the two concepts are equivalent) MedDRA:10039000 E (Exact mapping: the two concepts are equivalent) OMIM:312750 E (Exact mapping: the two concepts are equivalent) UMLS:C0035372 E (Exact mapping: the two concepts are equivalent) UMLS:C5681294 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77828 Genetic obesity Category ORPHA:77828 UMLS:C5681294 E (Exact mapping: the two concepts are equivalent) UMLS:C5681298 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=77830 Rare genetic odontologic disease Category ORPHA:77830 UMLS:C5681298 E (Exact mapping: the two concepts are equivalent) Primary biliary cirrhosis and systemic scleroderma Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms). Orphanet ICD-10:K74.3 ICD-10:M34.8 ICD-11:4A43.Y MedDRA:10070953 OMIM:613471 UMLS:C0748397 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=779 Reynolds syndrome ORPHA:779 ICD-10:K74.3 - ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M34.8 - ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10070953 E (Exact mapping: the two concepts are equivalent) OMIM:613471 E (Exact mapping: the two concepts are equivalent) UMLS:C0748397 E (Exact mapping: the two concepts are equivalent) Ancylostomiasis Hookworm infection A hookworm infection caused primarily by the species <i>Ancylostoma duodenale </i> or <i>Necator americanus</i>, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition. Orphanet ICD-10:B76.0 ICD-10:B76.1 ICD-10:B76.8 ICD-10:B76.9 ICD-11:1F68.0 MeSH:D000724 MedDRA:10002255 UMLS:C0002831 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=78 Ankylostomiasis ORPHA:78 ICD-10:B76.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B76.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B76.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B76.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F68.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000724 E (Exact mapping: the two concepts are equivalent) MedDRA:10002255 E (Exact mapping: the two concepts are equivalent) UMLS:C0002831 E (Exact mapping: the two concepts are equivalent) A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents. Orphanet ICD-10:C49.9 ICD-11:2B55 ICD-11:2B55.0 ICD-11:2B55.1 ICD-11:2B55.2 ICD-11:2B55.Y MeSH:D012208 MedDRA:10039022 OMIM:268210 OMIM:268220 UMLS:C0035412 Multigenic/multifactorial Childhood Europe AND has_annual_incidence_average_value : 0.59 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=780 Rhabdomyosarcoma ORPHA:780 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B55 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B55.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B55.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B55.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B55.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012208 E (Exact mapping: the two concepts are equivalent) MedDRA:10039022 E (Exact mapping: the two concepts are equivalent) OMIM:268210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:268220 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0035412 E (Exact mapping: the two concepts are equivalent) Coxiellosis Infection due to Coxiella burnetii Nine Mile fever Quadrilateral fever Query fever Q fever, caused by <i>Coxiella burnetii</i>, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic. Orphanet ICD-10:A78 ICD-11:DB98.3 MeSH:D011778 MedDRA:10037688 UMLS:C0034362 Not applicable All ages Australia AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown Finland AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.64 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.18 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=781 Q fever ORPHA:781 ICD-10:A78 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB98.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011778 E (Exact mapping: the two concepts are equivalent) MedDRA:10037688 E (Exact mapping: the two concepts are equivalent) UMLS:C0034362 E (Exact mapping: the two concepts are equivalent) Axenfeld syndrome Rieger syndrome Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. Orphanet ICD-10:Q13.8 ICD-11:LD2F.1Y MeSH:C535679 MedDRA:10059255 OMIM:180500 OMIM:601499 OMIM:602482 UMLS:C3495488 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=782 Axenfeld-Rieger syndrome ORPHA:782 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535679 E (Exact mapping: the two concepts are equivalent) MedDRA:10059255 E (Exact mapping: the two concepts are equivalent) OMIM:180500 E (Exact mapping: the two concepts are equivalent) OMIM:601499 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602482 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3495488 E (Exact mapping: the two concepts are equivalent) Broad thumb-hallux syndrome Broad thumbs-halluces syndrome A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:D012415 MedDRA:10039281 OMIM:180849 OMIM:610543 OMIM:613684 UMLS:C0035934 Autosomal dominant Unknown Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=783 Rubinstein-Taybi syndrome ORPHA:783 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D012415 E (Exact mapping: the two concepts are equivalent) MedDRA:10039281 E (Exact mapping: the two concepts are equivalent) OMIM:180849 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610543 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613684 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0035934 E (Exact mapping: the two concepts are equivalent) Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. Orphanet ICD-10:E30.8 ICD-11:5A90 OMIM:615363 UMLS:C4510972 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=785 Estrogen resistance syndrome ORPHA:785 ICD-10:E30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A90 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:615363 E (Exact mapping: the two concepts are equivalent) UMLS:C4510972 E (Exact mapping: the two concepts are equivalent) A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men. Orphanet ICD-10:E25.8 ICD-11:5A71.00 OMIM:615962 UMLS:C5231034 Autosomal dominant Autosomal recessive Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=786 Generalized glucocorticoid resistance syndrome ORPHA:786 ICD-10:E25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:615962 E (Exact mapping: the two concepts are equivalent) UMLS:C5231034 E (Exact mapping: the two concepts are equivalent) A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Orphanet ICD-10:D68.8 ICD-11:3B50.0 OMIM:262850 UMLS:C4274304 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79 Congenital alpha2-antiplasmin deficiency ORPHA:79 ICD-10:D68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B50.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:262850 E (Exact mapping: the two concepts are equivalent) UMLS:C4274304 E (Exact mapping: the two concepts are equivalent) A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral. Orphanet ICD-10:C69.2 ICD-11:2D02.2 MeSH:D012175 MedDRA:10038916 OMIM:180200 UMLS:C0035335 Autosomal dominant Not applicable Antenatal Childhood Infancy Austria AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.073 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 1.05 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown Finland AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Japan AND has_birth_prevalence_average_value : 5.05 AND has_birth_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.094 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.107 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.047 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=790 Retinoblastoma ORPHA:790 ICD-10:C69.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2D02.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012175 E (Exact mapping: the two concepts are equivalent) MedDRA:10038916 E (Exact mapping: the two concepts are equivalent) OMIM:180200 E (Exact mapping: the two concepts are equivalent) UMLS:C0035335 E (Exact mapping: the two concepts are equivalent) Lethal variant of Simpson-Golabi-Behmel syndrome SGBS2 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multiple congenital anomalies-hypotonia-seizures syndrome type 2 UMLS:C1846175 Simpson-Golabi-Behmel syndrome type 2 ORPHA:79022 UMLS:C1846175 E (Exact mapping: the two concepts are equivalent) UMLS:C0342666 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79062 Disorder of amino acid and other organic acid metabolism Category ORPHA:79062 UMLS:C0342666 E (Exact mapping: the two concepts are equivalent) Infantile juvenile polyposis syndrome Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. Orphanet ICD-10:D12.6 ICD-11:2B90.Y OMIM:175050 OMIM:612242 UMLS:C5445164 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79076 Juvenile polyposis of infancy Clinical subtype ORPHA:79076 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:175050 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:612242 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5445164 E (Exact mapping: the two concepts are equivalent) Chronic dacryoadenitis and sialadenitis Mikulicz disease IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms). Orphanet ICD-10:K11.8 ICD-11:4A43.0 MeSH:D008882 MedDRA:10051457 UMLS:C0026103 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79078 IgG4-related dacryoadenitis and sialadenitis Clinical subtype ORPHA:79078 ICD-10:K11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008882 E (Exact mapping: the two concepts are equivalent) MedDRA:10051457 E (Exact mapping: the two concepts are equivalent) UMLS:C0026103 E (Exact mapping: the two concepts are equivalent) FPLD3 Familial partial lipodystrophy type 3 PPARG-related FPLD A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. Orphanet ICD-10:E88.1 ICD-11:5A44 OMIM:604367 UMLS:C1720861 Autosomal dominant Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79083 PPARG-related familial partial lipodystrophy ORPHA:79083 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:604367 E (Exact mapping: the two concepts are equivalent) UMLS:C1720861 E (Exact mapping: the two concepts are equivalent) FPLD1 Familial partial lipodystrophy type 1 Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. Orphanet ICD-10:E88.1 ICD-11:5A44 OMIM:608600 UMLS:C1720859 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79084 Familial partial lipodystrophy, Köbberling type ORPHA:79084 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608600 E (Exact mapping: the two concepts are equivalent) UMLS:C1720859 E (Exact mapping: the two concepts are equivalent) AKT2-related FPLD A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. Orphanet ICD-10:E88.1 ICD-11:5A44 UMLS:C5680134 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79085 AKT2-related familial partial lipodystrophy ORPHA:79085 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680134 E (Exact mapping: the two concepts are equivalent) Acquired lipoatrophic diabetes Lawrence syndrome Lawrence-Seip syndrome A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles). Orphanet ICD-10:E88.1 ICD-11:5A44 MedDRA:10087376 UMLS:C0271693 Not applicable All ages Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79086 Acquired generalized lipodystrophy ORPHA:79086 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087376 E (Exact mapping: the two concepts are equivalent) UMLS:C0271693 E (Exact mapping: the two concepts are equivalent) Barraquer-Simons syndrome Progressive cephalothoracic lipodystrophy A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor. Orphanet ICD-10:E88.1 ICD-11:EF01.0 MeSH:C562448 OMIM:608709 UMLS:C0220989 Multigenic/multifactorial Not applicable Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79087 Acquired partial lipodystrophy ORPHA:79087 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562448 E (Exact mapping: the two concepts are equivalent) OMIM:608709 E (Exact mapping: the two concepts are equivalent) UMLS:C0220989 E (Exact mapping: the two concepts are equivalent) A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy. Orphanet UMLS:C4329999 Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79088 Localized lipodystrophy Clinical group ORPHA:79088 UMLS:C4329999 E (Exact mapping: the two concepts are equivalent) HIBM3 Hereditary inclusion body myopathy type 3 IBM3 Inclusion body myopathy type 3 A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Orphanet ICD-10:G71.8 ICD-11:4A41.21 OMIM:605637 UMLS:C4510610 Autosomal dominant Adolescent Infancy Neonatal Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome ORPHA:79091 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4510610 E (Exact mapping: the two concepts are equivalent) Angiodysgenetic necrotizing myelopathy Familial osteosclerosis with abnormalities of the nervous system and meninges Subacute angiohypertrophic myelomalacia Subacute ascending necrotizing myelitis Subacute necrotizing myelitis Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years. Orphanet ICD-10:G37.4 ICD-11:8A45.21 UMLS:C2062694 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79093 Foix-Alajouanine syndrome ORPHA:79093 ICD-10:G37.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A45.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2062694 E (Exact mapping: the two concepts are equivalent) Grange occlusive arterial syndrome Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). Variable additional features include learning difficulties, mild facial dysmorphism, anomalies of the fingers and toes, bone fragility, and congenital heart defects. Orphanet ICD-10:Q87.8 ICD-11:LD28.Y MeSH:C566529 OMIM:602531 UMLS:C1865267 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79094 Grange syndrome ORPHA:79094 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566529 E (Exact mapping: the two concepts are equivalent) OMIM:602531 E (Exact mapping: the two concepts are equivalent) UMLS:C1865267 E (Exact mapping: the two concepts are equivalent) 2-methylacyl-CoA racemase deficiency AMACR deficiency Alpha-methyl-acyl-CoA racemase deficiency BASD4 Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. Orphanet ICD-10:K76.8 ICD-11:5C52.11 MeSH:C535444 OMIM:214950 OMIM:614307 UMLS:C3280428 Autosomal recessive All ages Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79095 Congenital bile acid synthesis defect type 4 ORPHA:79095 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535444 E (Exact mapping: the two concepts are equivalent) OMIM:214950 E (Exact mapping: the two concepts are equivalent) OMIM:614307 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3280428 E (Exact mapping: the two concepts are equivalent) PNPO deficiency PNPO-related neonatal epileptic encephalopathy Pyridoxal phosphate-dependent seizures Pyridoxamine 5'-oxidase deficiency Pyridoxamine 5'-phosphate oxidase deficiency A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. Orphanet ICD-10:G40.8 ICD-11:5C63.Y MeSH:C566449 OMIM:610090 UMLS:C1864723 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79096 Pyridoxal phosphate-responsive seizures ORPHA:79096 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566449 E (Exact mapping: the two concepts are equivalent) OMIM:610090 E (Exact mapping: the two concepts are equivalent) UMLS:C1864723 E (Exact mapping: the two concepts are equivalent) Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. Orphanet ICD-10:G40.3 ICD-11:5C59.Y UMLS:C4273952 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79097 Folinic acid-responsive seizures ORPHA:79097 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4273952 E (Exact mapping: the two concepts are equivalent) Sympathetic uveitis Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye. Orphanet ICD-10:H44.1 ICD-11:9B65.0 MeSH:D009879 MedDRA:10042742 UMLS:C0029077 Not applicable All ages Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79098 Sympathetic ophthalmia ORPHA:79098 ICD-10:H44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009879 E (Exact mapping: the two concepts are equivalent) MedDRA:10042742 E (Exact mapping: the two concepts are equivalent) UMLS:C0029077 E (Exact mapping: the two concepts are equivalent) Ackerman dermatitis syndrome Ackerman syndrome IGDA Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. Orphanet ICD-10:L30.8 ICD-11:LD27.0Y UMLS:C4751206 Not applicable Adult Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79099 Interstitial granulomatous dermatitis with arthritis ORPHA:79099 ICD-10:L30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4751206 E (Exact mapping: the two concepts are equivalent) Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:D012174 MedDRA:10038914 OMIM:180100 OMIM:180104 OMIM:180105 OMIM:180210 OMIM:268000 OMIM:268025 OMIM:268060 OMIM:300029 OMIM:300155 OMIM:300424 OMIM:300605 OMIM:312600 OMIM:312612 OMIM:400004 OMIM:600059 OMIM:600105 OMIM:600132 OMIM:600138 OMIM:600852 OMIM:601414 OMIM:601718 OMIM:602594 OMIM:602772 OMIM:604232 OMIM:604393 OMIM:606068 OMIM:607921 OMIM:608133 OMIM:608380 OMIM:609913 OMIM:609923 OMIM:610282 OMIM:610359 OMIM:610599 OMIM:611131 OMIM:612095 OMIM:612165 OMIM:612572 OMIM:612712 OMIM:612943 OMIM:613194 OMIM:613341 OMIM:613428 OMIM:613464 OMIM:613575 OMIM:613581 OMIM:613582 OMIM:613617 OMIM:613660 OMIM:613731 OMIM:613750 OMIM:613756 OMIM:613758 OMIM:613767 OMIM:613769 OMIM:613794 OMIM:613801 OMIM:613809 OMIM:613810 OMIM:613827 OMIM:613861 OMIM:613862 OMIM:613983 OMIM:614180 OMIM:614181 OMIM:614494 OMIM:614500 OMIM:615233 OMIM:615434 OMIM:615565 OMIM:615725 OMIM:615780 OMIM:615922 OMIM:616188 OMIM:616394 OMIM:616469 OMIM:616544 OMIM:616562 OMIM:617023 OMIM:617123 OMIM:617304 OMIM:617433 OMIM:617460 OMIM:617781 OMIM:618173 OMIM:618195 OMIM:618220 OMIM:618345 OMIM:618613 OMIM:618697 OMIM:618826 OMIM:618955 OMIM:619007 OMIM:619845 OMIM:620102 OMIM:620228 UMLS:C0035334 Autosomal dominant Autosomal recessive Mitochondrial inheritance X-linked recessive Adolescent Adult Childhood China AND has_point_prevalence_average_value : 26.4 AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 25.4 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_point_prevalence_average_value : 11.09 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 22.5 AND has_point_prevalence_range : 1-5 / 10 000 Slovenia AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 20.5 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 26.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=791 Retinitis pigmentosa ORPHA:791 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D012174 E (Exact mapping: the two concepts are equivalent) MedDRA:10038914 E (Exact mapping: the two concepts are equivalent) OMIM:180100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:180104 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:180105 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:180210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:268000 E (Exact mapping: the two concepts are equivalent) OMIM:268025 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:268060 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300029 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300155 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300424 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300605 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:312600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:312612 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:400004 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600059 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600105 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600132 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600138 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600852 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601414 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601718 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602594 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602772 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604232 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:604393 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:606068 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607921 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608133 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608380 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609913 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609923 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610282 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610359 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610599 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611131 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612095 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612165 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612572 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612712 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:612943 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613194 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613341 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613428 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613464 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613575 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613581 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613582 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613617 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613660 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613731 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613756 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613758 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613767 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613769 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613794 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613801 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613809 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613810 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613827 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613861 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613862 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613983 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614180 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614181 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614494 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615233 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615434 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615565 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615725 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615922 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616188 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:616394 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616469 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616544 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616562 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617023 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617123 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617433 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617460 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617781 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618173 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618195 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618345 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618613 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618697 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618826 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618955 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:619007 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) OMIM:619845 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620102 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620228 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0035334 E (Exact mapping: the two concepts are equivalent) Folliculitis ulerythematosa reticulate A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs. Orphanet ICD-10:L66.4 ICD-11:ED56 OMIM:209700 OMIM:604093 UMLS:C0263429 Autosomal recessive Unknown Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79100 Atrophoderma vermiculata ORPHA:79100 ICD-10:L66.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:ED56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:209700 E (Exact mapping: the two concepts are equivalent) OMIM:604093 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0263429 E (Exact mapping: the two concepts are equivalent) Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. Orphanet ICD-10:E72.5 ICD-11:5C50.8 MeSH:C538385 MedDRA:10058514 OMIM:239510 UMLS:C2931835 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79101 Hyperprolinemia type 2 ORPHA:79101 ICD-10:E72.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538385 E (Exact mapping: the two concepts are equivalent) MedDRA:10058514 E (Exact mapping: the two concepts are equivalent) OMIM:239510 E (Exact mapping: the two concepts are equivalent) UMLS:C2931835 E (Exact mapping: the two concepts are equivalent) Thyrotoxic hypokalemic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. Orphanet ICD-10:G72.3 ICD-11:5A02.Y MedDRA:10043788 OMIM:188580 OMIM:613239 OMIM:614834 UMLS:C0268446 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79102 Thyrotoxic periodic paralysis ORPHA:79102 ICD-10:G72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10043788 E (Exact mapping: the two concepts are equivalent) OMIM:188580 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613239 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614834 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268446 E (Exact mapping: the two concepts are equivalent) Fibromyxosarcoma Myxoid malignant fibrous histiocytoma A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms. Orphanet ICD-10:C49.9 ICD-11:2B53.0 MedDRA:10066948 UMLS:C3714524 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79105 Myxofibrosarcoma ORPHA:79105 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B53.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066948 E (Exact mapping: the two concepts are equivalent) UMLS:C3714524 E (Exact mapping: the two concepts are equivalent) A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated. Orphanet ICD-10:M85.8 ICD-11:FB83.0Y MeSH:C564010 OMIM:600002 UMLS:C1838779 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79106 Eiken syndrome ORPHA:79106 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB83.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564010 E (Exact mapping: the two concepts are equivalent) OMIM:600002 E (Exact mapping: the two concepts are equivalent) UMLS:C1838779 E (Exact mapping: the two concepts are equivalent) Developmental malformations-hearing loss-dystonia syndrome Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y OMIM:607371 UMLS:C4303590 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79107 Developmental malformations-deafness-dystonia syndrome ORPHA:79107 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607371 E (Exact mapping: the two concepts are equivalent) UMLS:C4303590 E (Exact mapping: the two concepts are equivalent) MFDM syndrome Mandibulofacial dysostosis, Guion-Almeida type A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability. Orphanet ICD-10:Q87.0 MeSH:C537405 OMIM:610536 UMLS:C1864652 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 107.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79113 Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537405 E (Exact mapping: the two concepts are equivalent) OMIM:610536 E (Exact mapping: the two concepts are equivalent) UMLS:C1864652 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. Orphanet ICD-10:P70.2 ICD-11:GB8Y OMIM:610199 UMLS:C4510367 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome ORPHA:79118 ICD-10:P70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610199 E (Exact mapping: the two concepts are equivalent) UMLS:C4510367 E (Exact mapping: the two concepts are equivalent) VODI syndrome A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Orphanet ICD-10:K76.5 ICD-11:4A01.33 OMIM:235550 UMLS:C4510630 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79124 Hepatic veno-occlusive disease-immunodeficiency syndrome ORPHA:79124 ICD-10:K76.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.33 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:235550 E (Exact mapping: the two concepts are equivalent) UMLS:C4510630 E (Exact mapping: the two concepts are equivalent) Acute interstitial pneumonitis Hamman-Rich syndrome A rare, rapidly progressive, and histologically distinct, form of idiopathic interstitial pneumonia. Orphanet ICD-10:J84.1 ICD-11:CB03.0 MedDRA:10066728 OMIM:178500 UMLS:C1279945 Unknown Adult Europe AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79126 Acute interstitial pneumonia ORPHA:79126 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:CB03.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066728 E (Exact mapping: the two concepts are equivalent) OMIM:178500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1279945 E (Exact mapping: the two concepts are equivalent) RB-ILD Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening. Orphanet ICD-10:J68.4 ICD-11:CB03.6 MedDRA:10066393 UMLS:C1735355 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79127 Respiratory bronchiolitis-interstitial lung disease syndrome ORPHA:79127 ICD-10:J68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB03.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066393 E (Exact mapping: the two concepts are equivalent) UMLS:C1735355 E (Exact mapping: the two concepts are equivalent) Lymphocytic interstitial pneumonia A rare idiopathic interstitial pneumonia characterized by a diffuse, dense, polyclonal lymphoid cell infiltration of the pulmonary interstitium and air spaces, with high prevalence in patients with immune dysregulation. Presenting symptoms are non-specific and include dyspnea and cough. The clinical course is highly variable, ranging from spontaneous resolution to progressive, fatal respiratory failure. Orphanet ICD-10:J84.1 ICD-11:CB03.5 MeSH:C562489 MedDRA:10062997 OMIM:247610 UMLS:C0264511 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79128 Lymphoid interstitial pneumonia ORPHA:79128 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB03.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562489 E (Exact mapping: the two concepts are equivalent) MedDRA:10062997 E (Exact mapping: the two concepts are equivalent) OMIM:247610 E (Exact mapping: the two concepts are equivalent) UMLS:C0264511 E (Exact mapping: the two concepts are equivalent) A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y UMLS:C4304344 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79129 Trichodysplasia-amelogenesis imperfecta syndrome ORPHA:79129 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304344 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Thumb deformity-alopecia-pigmentation anomaly syndrome OBSOLETE: Sparse hair-short stature-skin anomalies syndrome ORPHA:79132 Bitemporal aplasia cutis congenita Brauer syndrome FFDD type I FFDD1 Focal facial dermal dysplasia 1, Brauer type Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y OMIM:136500 UMLS:C5235196 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 81.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79133 Focal facial dermal dysplasia type I Clinical subtype ORPHA:79133 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:136500 E (Exact mapping: the two concepts are equivalent) UMLS:C5235196 E (Exact mapping: the two concepts are equivalent) Developmental delay-epilepsy-neonatal diabetes syndrome A rare form of neonatal diabetes mellitus characterized by a triad of Developmental delay, Epilepsy, and Neonatal Diabetes (DEND syndrome), with a generally severe course. This form of neonatal diabetes is not associated with abnormal pancreatic development. Orphanet ICD-10:P70.2 ICD-11:KB60.2Y OMIM:606176 UMLS:C4303593 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79134 DEND syndrome ORPHA:79134 ICD-10:P70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KB60.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606176 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4303593 E (Exact mapping: the two concepts are equivalent) Episodic ataxia-vertigo-tinnitus-myokymia syndrome A rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. Orphanet ICD-10:G11.8 ICD-11:8A03.14 MeSH:C564697 OMIM:606554 UMLS:C1847839 Autosomal dominant All ages Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79135 Episodic ataxia type 3 ORPHA:79135 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564697 E (Exact mapping: the two concepts are equivalent) OMIM:606554 E (Exact mapping: the two concepts are equivalent) UMLS:C1847839 E (Exact mapping: the two concepts are equivalent) PATX Periodic vestibulocerebellar ataxia A rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. Orphanet ICD-10:G11.8 ICD-11:8A03.14 MeSH:C564698 OMIM:606552 UMLS:C1847843 Autosomal dominant Adult Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79136 Episodic ataxia type 4 ORPHA:79136 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564698 E (Exact mapping: the two concepts are equivalent) OMIM:606552 E (Exact mapping: the two concepts are equivalent) UMLS:C1847843 E (Exact mapping: the two concepts are equivalent) GEPD Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. Orphanet ICD-10:G40.3 ICD-11:8A61.2Y MeSH:C563719 OMIM:609446 UMLS:C1836173 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79137 Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563719 E (Exact mapping: the two concepts are equivalent) OMIM:609446 E (Exact mapping: the two concepts are equivalent) UMLS:C1836173 E (Exact mapping: the two concepts are equivalent) A rare autoimmune encephalitis/neuropathy characterized by disturbances of consciousness, ophthalmoplegia, ataxia, and hyperreflexia. It has common clinical features with Miller Fisher syndrome. Orphanet ICD-10:G61.0 ICD-11:8C01.0 MedDRA:10076985 UMLS:C1960543 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79138 Bickerstaff brainstem encephalitis ORPHA:79138 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10076985 E (Exact mapping: the two concepts are equivalent) UMLS:C1960543 E (Exact mapping: the two concepts are equivalent) Japanese encephalitis is an arboviral disease (<i>i.e.</i> a disease due to a virus transmitted by an arthropod). Orphanet ICD-10:A83.0 ICD-11:1C85 MeSH:D004672 MedDRA:10014596 UMLS:C0014057 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79139 Japanese encephalitis ORPHA:79139 ICD-10:A83.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C85 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004672 E (Exact mapping: the two concepts are equivalent) MedDRA:10014596 E (Exact mapping: the two concepts are equivalent) UMLS:C0014057 E (Exact mapping: the two concepts are equivalent) MCC Merkel cell carcinoma A rare aggressive skin cancer characterized by a rapidly growing nodule with both epithelial and neuroendocrine features, driven in 80% of cases by the oncogenic Merkel cell polyomavirus (MCPyV). Orphanet ICD-10:C44.3 ICD-10:C44.6 ICD-10:C44.7 ICD-11:2C34 UMLS:C0007129 Not applicable Adult Elderly Australia AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.86 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.378 AND has_annual_incidence_range : 1-9 / 1 000 000 New Zealand AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 2.7 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.27 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79140 Cutaneous neuroendocrine carcinoma ORPHA:79140 ICD-10:C44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C44.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C44.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C34 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0007129 E (Exact mapping: the two concepts are equivalent) Keratosis palmoplantaris nummularis PPK nummularis Plamoplantar hyperkeratosis nummularis Plamoplantar keratoderma nummularis A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed. Orphanet ICD-10:Q82.8 ICD-11:EC20.31 MeSH:C566180 OMIM:114140 UMLS:C1861964 Autosomal dominant No data available Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79141 Hereditary painful callosities ORPHA:79141 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566180 E (Exact mapping: the two concepts are equivalent) OMIM:114140 E (Exact mapping: the two concepts are equivalent) UMLS:C1861964 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial Dupuytren contracture ORPHA:79142 Isolated anonychia Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. Orphanet ICD-10:Q84.3 ICD-11:EC22.0 MeSH:C536377 OMIM:107000 OMIM:206800 OMIM:614149 UMLS:C0265998 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79143 Isolated congenital anonychia ORPHA:79143 ICD-10:Q84.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536377 E (Exact mapping: the two concepts are equivalent) OMIM:107000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:206800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614149 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265998 E (Exact mapping: the two concepts are equivalent) COIF COIF syndrome Congenital onychodysplasia of the index fingers Iso-Kikuchi syndrome A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial. Orphanet ICD-10:Q84.6 ICD-11:EC22.0 OMIM:605779 UMLS:C1274658 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79144 Isolated congenital onychodysplasia ORPHA:79144 ICD-10:Q84.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605779 E (Exact mapping: the two concepts are equivalent) UMLS:C1274658 E (Exact mapping: the two concepts are equivalent) Reticular pigment anomaly of flexures A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed. Orphanet ICD-10:L81.8 ICD-11:EC23.0 MeSH:C562924 MedDRA:10068651 OMIM:179850 OMIM:615327 OMIM:615674 OMIM:615696 UMLS:C3714534 Autosomal dominant Adolescent Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79145 Dowling-Degos disease ORPHA:79145 ICD-10:L81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562924 E (Exact mapping: the two concepts are equivalent) MedDRA:10068651 E (Exact mapping: the two concepts are equivalent) OMIM:179850 E (Exact mapping: the two concepts are equivalent) OMIM:615327 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615674 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615696 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3714534 E (Exact mapping: the two concepts are equivalent) Melanosis diffusa congenita Melanosis universalis hereditaria Universal melanosis Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated. Orphanet ICD-10:L81.4 ICD-11:EC23.0 MeSH:C564163 OMIM:145250 OMIM:614233 UMLS:C1840392 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79146 Familial progressive hyperpigmentation ORPHA:79146 ICD-10:L81.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564163 E (Exact mapping: the two concepts are equivalent) OMIM:145250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614233 E (Exact mapping: the two concepts are equivalent) UMLS:C1840392 E (Exact mapping: the two concepts are equivalent) Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. Orphanet ICD-10:L87.1 ICD-11:EE70.Y MeSH:C565687 OMIM:216700 UMLS:C1857624 Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79147 Familial reactive perforating collagenosis ORPHA:79147 ICD-10:L87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565687 E (Exact mapping: the two concepts are equivalent) OMIM:216700 E (Exact mapping: the two concepts are equivalent) UMLS:C1857624 E (Exact mapping: the two concepts are equivalent) A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women. Orphanet ICD-10:L87.2 ICD-11:EE70.Y MeSH:C536202 MedDRA:10014338 OMIM:130100 UMLS:C0221271 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79148 Elastosis perforans serpiginosa ORPHA:79148 ICD-10:L87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536202 E (Exact mapping: the two concepts are equivalent) MedDRA:10014338 E (Exact mapping: the two concepts are equivalent) OMIM:130100 E (Exact mapping: the two concepts are equivalent) UMLS:C0221271 E (Exact mapping: the two concepts are equivalent) François syndrome Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive. Orphanet ICD-10:L98.8 ICD-11:EC4Y MeSH:C535375 OMIM:221800 UMLS:C0432288 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79149 Dermochondrocorneal dystrophy ORPHA:79149 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535375 E (Exact mapping: the two concepts are equivalent) OMIM:221800 E (Exact mapping: the two concepts are equivalent) UMLS:C0432288 E (Exact mapping: the two concepts are equivalent) LWNH A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed. Orphanet ICD-10:L81.4 ICD-11:EC23.0 OMIM:614323 UMLS:C1304501 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79150 Linear and whorled nevoid hypermelanosis ORPHA:79150 ICD-10:L81.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614323 E (Exact mapping: the two concepts are equivalent) UMLS:C1304501 E (Exact mapping: the two concepts are equivalent) AKV of Hopf A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated. Orphanet ICD-10:Q82.8 ICD-11:EC20.Y MedDRA:10069445 OMIM:101900 UMLS:C0265971 Autosomal dominant Adult Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79151 Acrokeratosis verruciformis of Hopf ORPHA:79151 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069445 E (Exact mapping: the two concepts are equivalent) OMIM:101900 E (Exact mapping: the two concepts are equivalent) UMLS:C0265971 E (Exact mapping: the two concepts are equivalent) A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. Orphanet ICD-10:Q82.8 ICD-11:ED52 MedDRA:10085766 OMIM:175900 OMIM:607728 OMIM:612293 OMIM:612353 OMIM:614714 OMIM:616063 OMIM:616631 UMLS:C0265970 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79152 Disseminated superficial actinic porokeratosis ORPHA:79152 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED52 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10085766 E (Exact mapping: the two concepts are equivalent) OMIM:175900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607728 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612293 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612353 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614714 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616063 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616631 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265970 E (Exact mapping: the two concepts are equivalent) A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur. Orphanet ICD-10:L60.3 ICD-11:EC22.0 UMLS:C5681288 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79153 Idiopathic trachyonychia ORPHA:79153 ICD-10:L60.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681288 E (Exact mapping: the two concepts are equivalent) Alpha-aminoadipic aciduria A rare disorder of lysine and tryptophan metabolism characterized by 2-aminoadipic and 2-oxoadipic aciduria. Patients may also present with increased urinary excretion of alpha-hydroxyadipic acid. Variable clinical presentations have been found in patients including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy, and behavioral disorders (most commonly attention deficit hyperactivity disorder). However, many individuals with the biochemical phenotype are completely asymptomatic and thus the clinical significance of the condition is questionable. Orphanet ICD-10:E72.3 OMIM:204750 UMLS:C1859817 Childhood Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79154 2-aminoadipic 2-oxoadipic aciduria ORPHA:79154 ICD-10:E72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:204750 E (Exact mapping: the two concepts are equivalent) UMLS:C1859817 E (Exact mapping: the two concepts are equivalent) Kynureninase deficiency Xanthurenic aciduria A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness. Orphanet ICD-10:E70.8 ICD-11:5C50.3 MeSH:C536081 OMIM:236800 UMLS:C0268474 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79155 Hydroxykynureninuria ORPHA:79155 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536081 E (Exact mapping: the two concepts are equivalent) OMIM:236800 E (Exact mapping: the two concepts are equivalent) UMLS:C0268474 E (Exact mapping: the two concepts are equivalent) A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970. Orphanet ICD-10:E72.3 ICD-11:5C50.4 OMIM:236900 UMLS:C4510221 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79156 Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156 ICD-10:E72.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:236900 E (Exact mapping: the two concepts are equivalent) UMLS:C4510221 E (Exact mapping: the two concepts are equivalent) 2-methylbutyric aciduria Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency SBCAD deficiency Short/branched-chain acyl-coA dehydrogenase deficiency A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C566487 OMIM:610006 UMLS:C1864912 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79157 2-methylbutyryl-CoA dehydrogenase deficiency ORPHA:79157 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566487 E (Exact mapping: the two concepts are equivalent) OMIM:610006 E (Exact mapping: the two concepts are equivalent) UMLS:C1864912 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.E1 UMLS:C5681292 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79158 Cerebral organic aciduria Category ORPHA:79158 ICD-11:5C50.E1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681292 E (Exact mapping: the two concepts are equivalent) Isobutyric aciduria Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the <i>ACAD8</i> gene (11q25). Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C535541 OMIM:611283 UMLS:C1969809 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79159 Isobutyryl-CoA dehydrogenase deficiency ORPHA:79159 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535541 E (Exact mapping: the two concepts are equivalent) OMIM:611283 E (Exact mapping: the two concepts are equivalent) UMLS:C1969809 E (Exact mapping: the two concepts are equivalent) MedDRA:10061023 UMLS:C0149670 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79161 Disorder of carbohydrate metabolism Category ORPHA:79161 MedDRA:10061023 E (Exact mapping: the two concepts are equivalent) UMLS:C0149670 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.E0 UMLS:C5681291 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79163 Classic organic aciduria Category ORPHA:79163 ICD-11:5C50.E0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681291 E (Exact mapping: the two concepts are equivalent) ICD-10:E72.0 ICD-11:5C60 UMLS:C0268641 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79166 Disorder of amino acid absorption and transport Category ORPHA:79166 ICD-10:E72.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0268641 E (Exact mapping: the two concepts are equivalent) ICD-10:E72.2 UMLS:C5681290 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79167 Disorder of urea cycle metabolism and ammonia detoxification Category ORPHA:79167 ICD-10:E72.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681290 E (Exact mapping: the two concepts are equivalent) A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. Orphanet All ages Europe AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79168 Disorder of bile acid synthesis Category ORPHA:79168 UMLS:C5681289 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79169 Disorder of neurotransmitter metabolism and transport Category ORPHA:79169 UMLS:C5681289 E (Exact mapping: the two concepts are equivalent) ICD-11:5C63.0 UMLS:C5681844 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79171 Disorder of cobalamin metabolism and transport Category ORPHA:79171 ICD-11:5C63.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681844 E (Exact mapping: the two concepts are equivalent) CCDS CDS Cerebral creatine deficiency syndrome Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. Orphanet MedDRA:10084104 UMLS:C5244016 Autosomal recessive Not applicable X-linked recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79172 Creatine deficiency syndrome Clinical group ORPHA:79172 MedDRA:10084104 E (Exact mapping: the two concepts are equivalent) UMLS:C5244016 E (Exact mapping: the two concepts are equivalent) Cytosolic methyl group transfer or sulfur amino acid metabolism disorder ICD-10:E72.1 ICD-11:5C50.B UMLS:C5680126 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79173 Disorder of methionine cycle and sulfur amino acid metabolism Category ORPHA:79173 ICD-10:E72.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C50.B - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680126 E (Exact mapping: the two concepts are equivalent) ICD-10:E71.3 UMLS:C5681281 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79174 Disorder of fatty acid oxidation and ketone body metabolism Category ORPHA:79174 ICD-10:E71.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681281 E (Exact mapping: the two concepts are equivalent) Disorder of GABA metabolism ICD-11:5C59.1 UMLS:C4702813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79175 Disorder of gamma-aminobutyric acid metabolism Category ORPHA:79175 ICD-11:5C59.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4702813 E (Exact mapping: the two concepts are equivalent) UMLS:C1398833 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79177 Gluconeogenesis disorder Category ORPHA:79177 UMLS:C1398833 E (Exact mapping: the two concepts are equivalent) UMLS:C5389835 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79178 Glucose transport disorder Category ORPHA:79178 UMLS:C5389835 E (Exact mapping: the two concepts are equivalent) ICD-11:5C51.1 UMLS:C0342762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79179 Disorder of glycerol metabolism Category ORPHA:79179 ICD-11:5C51.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342762 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.2 UMLS:C0268512 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79181 Disorder of histidine metabolism Category ORPHA:79181 ICD-11:5C50.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0268512 E (Exact mapping: the two concepts are equivalent) ICD-11:5C52.02 UMLS:C5681845 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79183 Disorder of ketolysis Category ORPHA:79183 ICD-11:5C52.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681845 E (Exact mapping: the two concepts are equivalent) UMLS:C5681278 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79185 Disorder of ornithine or proline metabolism Category ORPHA:79185 UMLS:C5681278 E (Exact mapping: the two concepts are equivalent) ICD-11:5C51.0 UMLS:C5681279 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79186 Disorder of pentose phosphate metabolism Category ORPHA:79186 ICD-11:5C51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681279 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.F UMLS:C4736193 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79187 Disorder of peptide metabolism Category ORPHA:79187 ICD-11:5C50.F - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736193 E (Exact mapping: the two concepts are equivalent) UMLS:C5681280 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79188 Peroxisomal beta-oxidation disorder Category ORPHA:79188 UMLS:C5681280 E (Exact mapping: the two concepts are equivalent) PBD-ZSD Peroxisome biogenesis disorder spectrum Peroxisome biogenesis disorder-Zellweger spectrum disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms). Orphanet ICD-11:5C57.0 MeSH:C536664 OMIM:202370 OMIM:214100 OMIM:214110 OMIM:266510 OMIM:601539 OMIM:614859 OMIM:614862 OMIM:614863 OMIM:614866 OMIM:614867 OMIM:614870 OMIM:614871 OMIM:614872 OMIM:614873 OMIM:614876 OMIM:614877 OMIM:614879 OMIM:614882 OMIM:614883 OMIM:614885 OMIM:614886 OMIM:614887 OMIM:614920 UMLS:C1832200 Autosomal recessive Infancy Neonatal Japan AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79189 Peroxisome biogenesis disorder Clinical group ORPHA:79189 ICD-11:5C57.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536664 E (Exact mapping: the two concepts are equivalent) OMIM:202370 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:214100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:214110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:266510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601539 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614859 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614862 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614863 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614866 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614867 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614870 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614871 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614872 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614873 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614876 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614877 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614879 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614882 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614883 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614885 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614886 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614920 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1832200 E (Exact mapping: the two concepts are equivalent) UMLS:C5681284 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79190 Disorder of phenylalanin or tyrosine metabolism Category ORPHA:79190 UMLS:C5681284 E (Exact mapping: the two concepts are equivalent) ICD-11:5C55.0 MedDRA:10061476 UMLS:C0268104 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79191 Disorder of purine metabolism Category ORPHA:79191 ICD-11:5C55.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10061476 E (Exact mapping: the two concepts are equivalent) UMLS:C0268104 E (Exact mapping: the two concepts are equivalent) ICD-11:5C59.2 UMLS:C5681285 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79192 Disorder of pyridoxine metabolism Category ORPHA:79192 ICD-11:5C59.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681285 E (Exact mapping: the two concepts are equivalent) ICD-11:5C55.1 MedDRA:10070969 UMLS:C0268127 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79193 Disorder of pyrimidine metabolism Category ORPHA:79193 ICD-11:5C55.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10070969 E (Exact mapping: the two concepts are equivalent) UMLS:C0268127 E (Exact mapping: the two concepts are equivalent) UMLS:C5681286 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79194 Disorder of serine or glycine metabolism Category ORPHA:79194 UMLS:C5681286 E (Exact mapping: the two concepts are equivalent) UMLS:C5681287 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79195 Sterol biosynthesis disorder Category ORPHA:79195 UMLS:C5681287 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.5 UMLS:C0268517 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79196 Disorder of the gamma-glutamyl cycle Category ORPHA:79196 ICD-11:5C50.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0268517 E (Exact mapping: the two concepts are equivalent) ICD-11:5C50.D UMLS:C0342712 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79197 Disorder of branched-chain amino acid metabolism Category ORPHA:79197 ICD-11:5C50.D - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342712 E (Exact mapping: the two concepts are equivalent) X-linked juvenile retinoschisis XLRS A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages. Orphanet ICD-10:Q14.1 ICD-11:9B73.11 OMIM:312700 UMLS:C0271091 X-linked recessive Adolescent Adult Childhood Infancy Denmark AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=792 X-linked retinoschisis ORPHA:792 ICD-10:Q14.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B73.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:312700 E (Exact mapping: the two concepts are equivalent) UMLS:C0271091 E (Exact mapping: the two concepts are equivalent) UMLS:C5681282 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79200 Disorder of energy metabolism Category ORPHA:79200 UMLS:C5681282 E (Exact mapping: the two concepts are equivalent) GSD Glycogenosis ICD-10:E74.0 ICD-11:5C51.3 MeSH:D006008 MedDRA:10061990 UMLS:C0017919 China AND has_point_prevalence_average_value : 1.51 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79201 Glycogen storage disease Category ORPHA:79201 ICD-10:E74.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C51.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006008 E (Exact mapping: the two concepts are equivalent) MedDRA:10061990 E (Exact mapping: the two concepts are equivalent) UMLS:C0017919 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79204 Lipid storage disease Category ORPHA:79204 UMLS:C5681276 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79207 Disorder of lysosomal amino acid transport Category ORPHA:79207 UMLS:C5681276 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Combined hyperlipoproteinemia OBSOLETE: Mixed hyperlipidemia OBSOLETE: Mixed hyperlipoproteinemia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare hyperlipidemia OBSOLETE: Combined hyperlipidemia ORPHA:79211 ICD-11:5C56.20 MeSH:D009081 MedDRA:10072939 UMLS:C0026697 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79212 Mucolipidosis Category ORPHA:79212 ICD-11:5C56.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009081 E (Exact mapping: the two concepts are equivalent) MedDRA:10072939 E (Exact mapping: the two concepts are equivalent) UMLS:C0026697 E (Exact mapping: the two concepts are equivalent) ICD-11:5C56.3 MeSH:D009083 MedDRA:10028093 UMLS:C0026703 Australia AND has_birth_prevalence_average_value : 3.9 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_birth_prevalence_average_value : 1.25 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_point_prevalence_average_value : 1.04 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 3.72 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 1.77 AND has_birth_prevalence_range : 1-9 / 100 000 Estonia AND has_birth_prevalence_average_value : 4.05 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 3.53 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 1.53 AND has_birth_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_birth_prevalence_average_value : 1.35 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 3.08 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 1.81 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 16.9 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 2.22 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 1.56 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 2.04 AND has_birth_prevalence_range : 1-9 / 100 000 Tunisia AND has_birth_prevalence_average_value : 2.29 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.98 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.267 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79213 Mucopolysaccharidosis Category ORPHA:79213 ICD-11:5C56.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009083 E (Exact mapping: the two concepts are equivalent) MedDRA:10028093 E (Exact mapping: the two concepts are equivalent) UMLS:C0026703 E (Exact mapping: the two concepts are equivalent) UMLS:C5681274 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79214 Disorder of biogenic amine metabolism and transport Category ORPHA:79214 UMLS:C5681274 E (Exact mapping: the two concepts are equivalent) ICD-11:5C56.21 UMLS:C5547641 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79215 Oligosaccharidosis Category ORPHA:79215 ICD-11:5C56.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5547641 E (Exact mapping: the two concepts are equivalent) UMLS:C5681273 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79217 Other metabolic disease with skin involvement Category ORPHA:79217 UMLS:C5681273 E (Exact mapping: the two concepts are equivalent) UMLS:C5681275 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79219 Metabolic disease involving other neurotransmitter deficiency Category ORPHA:79219 UMLS:C5681275 E (Exact mapping: the two concepts are equivalent) MeSH:D011686 MedDRA:10037546 UMLS:C0034139 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79224 Disorder of purine or pyrimidine metabolism Category ORPHA:79224 MeSH:D011686 E (Exact mapping: the two concepts are equivalent) MedDRA:10037546 E (Exact mapping: the two concepts are equivalent) UMLS:C0034139 E (Exact mapping: the two concepts are equivalent) ICD-11:5C56.0 MeSH:D013106 UMLS:C0037899 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79225 Sphingolipidosis Category ORPHA:79225 ICD-11:5C56.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013106 E (Exact mapping: the two concepts are equivalent) UMLS:C0037899 E (Exact mapping: the two concepts are equivalent) UMLS:C5681277 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79226 Sterol metabolism disorder Category ORPHA:79226 UMLS:C5681277 E (Exact mapping: the two concepts are equivalent) Hemochromatosis type 2 Juvenile hemochromatosis An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by cardiomyopathy and hypogonadism. Orphanet ICD-10:E83.1 ICD-11:5C64.10 MeSH:C537247 OMIM:602390 OMIM:613313 UMLS:C0268060 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 74.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79230 HJV or HAMP-related hemochromatosis ORPHA:79230 ICD-10:E83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C64.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537247 E (Exact mapping: the two concepts are equivalent) OMIM:602390 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613313 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268060 E (Exact mapping: the two concepts are equivalent) HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I Kelley-Seegmiller syndrome Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. Orphanet ICD-10:E79.8 ICD-11:5C55.0Y MeSH:C562583 OMIM:300323 UMLS:C0268117 X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562583 E (Exact mapping: the two concepts are equivalent) OMIM:300323 E (Exact mapping: the two concepts are equivalent) UMLS:C0268117 E (Exact mapping: the two concepts are equivalent) Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin-UGT deficiency type 1 A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy. Orphanet ICD-10:E80.5 ICD-11:5C58.00 MedDRA:10057034 OMIM:218800 UMLS:C0010324 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79234 Crigler-Najjar syndrome type 1 Clinical subtype ORPHA:79234 ICD-10:E80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10057034 E (Exact mapping: the two concepts are equivalent) OMIM:218800 E (Exact mapping: the two concepts are equivalent) UMLS:C0010324 E (Exact mapping: the two concepts are equivalent) Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-UGT deficiency type 2 A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection. Orphanet ICD-10:E80.5 ICD-11:5C58.00 MeSH:C536213 MedDRA:10011387 OMIM:606785 UMLS:C2931132 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79235 Crigler-Najjar syndrome type 2 Clinical subtype ORPHA:79235 ICD-10:E80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536213 E (Exact mapping: the two concepts are equivalent) MedDRA:10011387 E (Exact mapping: the two concepts are equivalent) OMIM:606785 E (Exact mapping: the two concepts are equivalent) UMLS:C2931132 E (Exact mapping: the two concepts are equivalent) GALK deficiency GALK-D Galactokinase deficiency galactosemia Galactosemia type 2 A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. Orphanet ICD-10:E74.2 ICD-11:5C51.41 OMIM:230200 UMLS:C0268155 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79237 Galactokinase deficiency ORPHA:79237 ICD-10:E74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:230200 E (Exact mapping: the two concepts are equivalent) UMLS:C0268155 E (Exact mapping: the two concepts are equivalent) Epimerase deficiency galactosemia GALE deficiency GALE-D Galactosemia type 3 UDP-galactose-4-epimerase deficiency Uridine diphosphate galactose-4-epimerase deficiency A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. Orphanet ICD-10:E74.2 ICD-11:5C51.4Y OMIM:230350 UMLS:C0751161 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79238 Galactose epimerase deficiency ORPHA:79238 ICD-10:E74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:230350 E (Exact mapping: the two concepts are equivalent) UMLS:C0751161 E (Exact mapping: the two concepts are equivalent) GALT deficiency Galactose-1-phosphate uridyltransferase deficiency Galactosemia type 1 A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. Orphanet ICD-10:E74.2 ICD-11:5C51.40 OMIM:230400 UMLS:C0268151 Autosomal recessive Infancy Neonatal China AND has_birth_prevalence_average_value : 0.25 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 20.8 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79239 Classic galactosemia ORPHA:79239 ICD-10:E74.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:230400 E (Exact mapping: the two concepts are equivalent) UMLS:C0268151 E (Exact mapping: the two concepts are equivalent) GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb Glycogen storage disease type 9B Glycogen storage disease type IXb Glycogenosis due to liver and muscle phosphorylase kinase deficiency Glycogenosis type 9B Glycogenosis type IXb A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:C563008 OMIM:261750 UMLS:C0543514 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency ORPHA:79240 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563008 E (Exact mapping: the two concepts are equivalent) OMIM:261750 E (Exact mapping: the two concepts are equivalent) UMLS:C0543514 E (Exact mapping: the two concepts are equivalent) Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. Orphanet ICD-10:E53.8 ICD-11:5C50.E0 MeSH:D028921 MedDRA:10071434 OMIM:253260 UMLS:C0220754 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Austria AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.0069 AND has_point_prevalence_range : <1 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 11.58 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79241 Biotinidase deficiency ORPHA:79241 ICD-10:E53.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D028921 E (Exact mapping: the two concepts are equivalent) MedDRA:10071434 E (Exact mapping: the two concepts are equivalent) OMIM:253260 E (Exact mapping: the two concepts are equivalent) UMLS:C0220754 E (Exact mapping: the two concepts are equivalent) Early-onset multiple carboxylase deficiency Neonatal multiple carboxylase deficiency A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death. Orphanet ICD-10:E53.8 ICD-11:5C50.E0 MeSH:D028922 OMIM:253270 UMLS:C0268581 Autosomal recessive Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79242 Holocarboxylase synthetase deficiency ORPHA:79242 ICD-10:E53.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D028922 E (Exact mapping: the two concepts are equivalent) OMIM:253270 E (Exact mapping: the two concepts are equivalent) UMLS:C0268581 E (Exact mapping: the two concepts are equivalent) PDHAD Pyruvate decarboxylase deficiency Pyruvate dehydrogenase complex E1 component subunit alpha deficiency A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. Orphanet ICD-10:E74.4 ICD-11:5C53.02 MeSH:C564071 OMIM:312170 UMLS:C1839413 X-linked dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79243 Pyruvate dehydrogenase E1-alpha deficiency Clinical subtype ORPHA:79243 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564071 E (Exact mapping: the two concepts are equivalent) OMIM:312170 E (Exact mapping: the two concepts are equivalent) UMLS:C1839413 E (Exact mapping: the two concepts are equivalent) Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex component E2 deficiency A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. Orphanet ICD-10:E74.4 ICD-11:5C53.02 MeSH:C565448 OMIM:245348 UMLS:C1855565 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79244 Pyruvate dehydrogenase E2 deficiency Clinical subtype ORPHA:79244 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565448 E (Exact mapping: the two concepts are equivalent) OMIM:245348 E (Exact mapping: the two concepts are equivalent) UMLS:C1855565 E (Exact mapping: the two concepts are equivalent) PDH phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period. Orphanet ICD-10:E74.4 ICD-11:5C53.02 MeSH:C536258 OMIM:608782 UMLS:C1837429 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79246 Pyruvate dehydrogenase phosphatase deficiency Clinical subtype ORPHA:79246 ICD-10:E74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536258 E (Exact mapping: the two concepts are equivalent) OMIM:608782 E (Exact mapping: the two concepts are equivalent) UMLS:C1837429 E (Exact mapping: the two concepts are equivalent) Mild PKU Variant PKU Variant phenylketonuria mPKU A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day. Orphanet ICD-10:E70.1 ICD-11:5C50.0Y OMIM:261600 UMLS:C5680203 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79253 Mild phenylketonuria Clinical subtype ORPHA:79253 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:261600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680203 E (Exact mapping: the two concepts are equivalent) Classic PKU A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. Orphanet ICD-10:E70.0 ICD-11:5C50.00 MedDRA:10034875 OMIM:261600 UMLS:C0751434 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 6.34 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 6.34 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79254 Classic phenylketonuria Clinical subtype ORPHA:79254 ICD-10:E70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C50.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10034875 E (Exact mapping: the two concepts are equivalent) OMIM:261600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751434 E (Exact mapping: the two concepts are equivalent) Infantile GM1 gangliosidosis Norman-Landing disease GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations. Orphanet ICD-10:E75.1 ICD-11:5C56.00 OMIM:230500 UMLS:C0268271 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79255 GM1 gangliosidosis type 1 Clinical subtype ORPHA:79255 ICD-10:E75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:230500 E (Exact mapping: the two concepts are equivalent) UMLS:C0268271 E (Exact mapping: the two concepts are equivalent) Juvenile GM1 gangliosidosis Late-infantile GM1 gangliosidosis GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age. Orphanet ICD-10:E75.1 ICD-11:5C56.00 OMIM:230600 UMLS:C0268272 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79256 GM1 gangliosidosis type 2 Clinical subtype ORPHA:79256 ICD-10:E75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:230600 E (Exact mapping: the two concepts are equivalent) UMLS:C0268272 E (Exact mapping: the two concepts are equivalent) Adult-onset GM1 gangliosidosis GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. Orphanet ICD-10:E75.1 ICD-11:5C56.00 OMIM:230650 UMLS:C0268273 Autosomal recessive All ages Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79257 GM1 gangliosidosis type 3 Clinical subtype ORPHA:79257 ICD-10:E75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:230650 E (Exact mapping: the two concepts are equivalent) UMLS:C0268273 E (Exact mapping: the two concepts are equivalent) G6P deficiency type 1a GSD due to G6P deficiency type 1a GSD due to G6P deficiency type Ia GSD type 1a GSDIa Glycogen storage disease due to G6P deficiency type Ia Glycogen storage disease type 1a Glycogenosis due to glucose-6-phosphatase deficiency type 1a Glycogenosis due to glucose-6-phosphatase deficiency type Ia Glycogenosis type Ia Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term). Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:232200 UMLS:C5680202 Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Clinical subtype ORPHA:79258 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:232200 E (Exact mapping: the two concepts are equivalent) UMLS:C5680202 E (Exact mapping: the two concepts are equivalent) G6P deficiency type Ib G6P translocase deficiency G6PT deficiency GSD due to G6P deficiency type 1b GSD due to G6P deficiency type Ib GSD due to G6PT deficiency GSD type 1 non a GSD type 1b GSD type Ib GSDIb Glycogen storage disease due to G6P deficiency type Ib Glycogen storage disease type 1b Glycogen storage disease type Ib Glycogenosis due to glucose-6-phosphatase deficiency type 1b Glycogenosis due to glucose-6-phosphatase transport defect type Ib Glycogenosis type 1b Glycogenosis type Ib Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term). Orphanet ICD-10:E74.0 ICD-11:5C51.3 MeSH:C562594 OMIM:232220 OMIM:232240 UMLS:C0268146 Infancy Neonatal Israel AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Clinical subtype ORPHA:79259 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C562594 E (Exact mapping: the two concepts are equivalent) OMIM:232220 E (Exact mapping: the two concepts are equivalent) OMIM:232240 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268146 E (Exact mapping: the two concepts are equivalent) Type 1C glycogenosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib UMLS:C0342749 Glycogen storage disease type 1c ORPHA:79260 UMLS:C0342749 E (Exact mapping: the two concepts are equivalent) Type 1D glycogenosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib UMLS:C0342750 Glycogen storage disease type 1d ORPHA:79261 UMLS:C0342750 E (Exact mapping: the two concepts are equivalent) OBSOLETE: ANCL OBSOLETE: Adult CLN disease OBSOLETE: Adult NCL OBSOLETE: Adult NCL disease OBSOLETE: Kufs disease This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis OBSOLETE: Adult neuronal ceroid lipofuscinosis ORPHA:79262 OBSOLETE: Hagberg-Santavuori disease OBSOLETE: INCL OBSOLETE: Infantile NCL OBSOLETE: Santavuori disease OBSOLETE: Santavuori-Haltia disease This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis OBSOLETE: Infantile neuronal ceroid lipofuscinosis ORPHA:79263 OBSOLETE: Batten disease OBSOLETE: JNCL OBSOLETE: Juvenile CLN disease OBSOLETE: Juvenile NCL OBSOLETE: Juvenile NCL disease OBSOLETE: Spielmeyer-Vogt disease This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis OBSOLETE: Juvenile neuronal ceroid lipofuscinosis ORPHA:79264 Heparan sulfamidase deficiency MPS3A MPSIIIA Mucopolysaccharidosis type 3A Mucopolysaccharidosis type IIIA ICD-10:E76.2 ICD-11:5C56.3Y OMIM:252900 UMLS:C0086647 Autosomal recessive Australia AND has_birth_prevalence_average_value : 0.88 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.47 AND has_birth_prevalence_range : 1-9 / 1 000 000 Estonia AND has_birth_prevalence_average_value : 1.62 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.32 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.052 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79269 Sanfilippo syndrome type A Etiological subtype ORPHA:79269 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:252900 E (Exact mapping: the two concepts are equivalent) UMLS:C0086647 E (Exact mapping: the two concepts are equivalent) MPS3B MPSIIIB Mucopolysaccharidosis type 3B Mucopolysaccharidosis type IIIB N-acetyl-alpha-glucosaminidase deficiency ICD-10:E76.2 ICD-11:5C56.3Y OMIM:252920 UMLS:C0086648 Autosomal recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.47 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.42 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.014 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79270 Sanfilippo syndrome type B Etiological subtype ORPHA:79270 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:252920 E (Exact mapping: the two concepts are equivalent) UMLS:C0086648 E (Exact mapping: the two concepts are equivalent) HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Mucopolysaccharidosis type IIIC ICD-10:E76.2 ICD-11:5C56.3Y OMIM:252930 UMLS:C0086649 Autosomal recessive Childhood Australia AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.42 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 0.21 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.015 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 4.0E-4 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79271 Sanfilippo syndrome type C Etiological subtype ORPHA:79271 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:252930 E (Exact mapping: the two concepts are equivalent) UMLS:C0086649 E (Exact mapping: the two concepts are equivalent) GNS deficiency Glucosamine N-acetyl-6-sulfatase deficiency MPS3D MPSIIID Mucopolysaccharidosis type 3D Mucopolysaccharidosis type IIID ICD-10:E76.2 ICD-11:5C56.3Y OMIM:252940 UMLS:C0086650 Autosomal recessive Australia AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79272 Sanfilippo syndrome type D Etiological subtype ORPHA:79272 ICD-10:E76.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:252940 E (Exact mapping: the two concepts are equivalent) UMLS:C0086650 E (Exact mapping: the two concepts are equivalent) A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions. Orphanet ICD-10:E80.2 ICD-11:5C58.1Y MeSH:D046349 MedDRA:10019866 OMIM:121300 UMLS:C0162531 Autosomal dominant Adolescent Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79273 Hereditary coproporphyria ORPHA:79273 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D046349 E (Exact mapping: the two concepts are equivalent) MedDRA:10019866 E (Exact mapping: the two concepts are equivalent) OMIM:121300 E (Exact mapping: the two concepts are equivalent) UMLS:C0162531 E (Exact mapping: the two concepts are equivalent) A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms. Orphanet ICD-10:E80.2 ICD-11:5C58.1Y MeSH:D017118 OMIM:176000 UMLS:C0162565 Autosomal dominant Adolescent Adult Europe AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.54 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.59 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.55 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.81 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.63 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_point_prevalence_average_value : 0.72 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.014 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.63 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Switzerland AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_point_prevalence_average_value : 0.99 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.72 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79276 Acute intermittent porphyria ORPHA:79276 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017118 E (Exact mapping: the two concepts are equivalent) OMIM:176000 E (Exact mapping: the two concepts are equivalent) UMLS:C0162565 E (Exact mapping: the two concepts are equivalent) CEP Günther disease A rare erythropoietic porphyria characterized by a non-photoalgesic, polymorphic, mutilating and very severe photodermatosis. Orphanet ICD-10:E80.0 ICD-11:5C58.12 MeSH:D017092 OMIM:263700 Autosomal recessive All ages Europe AND has_annual_incidence_average_value : 0.065 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79277 Congenital erythropoietic porphyria ORPHA:79277 ICD-10:E80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C58.12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017092 E (Exact mapping: the two concepts are equivalent) OMIM:263700 E (Exact mapping: the two concepts are equivalent) EPP A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with photosensitive skin manifestations. Orphanet ICD-10:E80.0 ICD-11:5C58.12 MeSH:D046351 MedDRA:10015289 OMIM:177000 UMLS:C0162568 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.46 AND has_point_prevalence_range : 1-9 / 1 000 000 Ireland AND has_point_prevalence_average_value : 0.62 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.54 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 1.39 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 2.77 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Slovenia AND has_point_prevalence_average_value : 1.75 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.003 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 1.39 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 2.54 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79278 Autosomal erythropoietic protoporphyria ORPHA:79278 ICD-10:E80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C58.12 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D046351 E (Exact mapping: the two concepts are equivalent) MedDRA:10015289 E (Exact mapping: the two concepts are equivalent) OMIM:177000 E (Exact mapping: the two concepts are equivalent) UMLS:C0162568 E (Exact mapping: the two concepts are equivalent) NAGA deficiency type 1 Schindler disease type 1 A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. Orphanet ICD-10:E77.1 ICD-11:5C56.21 MeSH:C536631 OMIM:609241 UMLS:C1836544 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79279 Alpha-N-acetylgalactosaminidase deficiency type 1 Clinical subtype ORPHA:79279 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536631 E (Exact mapping: the two concepts are equivalent) OMIM:609241 E (Exact mapping: the two concepts are equivalent) UMLS:C1836544 E (Exact mapping: the two concepts are equivalent) Adult-onset Alpha-N-acetylgalactosaminidase deficiency Kanzaki disease NAGA deficiency type 2 Schindler disease type 2 A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. Orphanet ICD-10:E77.1 ICD-11:5C56.21 OMIM:609242 UMLS:C1836522 Autosomal recessive Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79280 Alpha-N-acetylgalactosaminidase deficiency type 2 Clinical subtype ORPHA:79280 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609242 E (Exact mapping: the two concepts are equivalent) UMLS:C1836522 E (Exact mapping: the two concepts are equivalent) NAGA deficiency type 3 Schindler disease type 3 A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. Orphanet ICD-10:E77.1 ICD-11:5C56.21 OMIM:609241 UMLS:C5437471 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79281 Alpha-N-acetylgalactosaminidase deficiency type 3 Clinical subtype ORPHA:79281 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609241 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5437471 E (Exact mapping: the two concepts are equivalent) CblC defect Cobalamin C defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Methylmalonic aciduria with homocystinuria, type cblC <i>cblC</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. Orphanet ICD-10:D58.8 ICD-11:5C50.E0 OMIM:277400 Autosomal recessive All ages Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79282 Methylmalonic acidemia with homocystinuria, type cblC Clinical subtype ORPHA:79282 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:277400 E (Exact mapping: the two concepts are equivalent) CblD defect Cobalamin D defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD Methylmalonic aciduria with homocystinuria, type cblD <i>cblD</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. Orphanet ICD-10:E72.1 ICD-11:5C50.E0 MeSH:C564743 OMIM:277410 UMLS:C1848552 Autosomal recessive All ages Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79283 Methylmalonic acidemia with homocystinuria, type cblD Clinical subtype ORPHA:79283 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564743 E (Exact mapping: the two concepts are equivalent) OMIM:277410 E (Exact mapping: the two concepts are equivalent) UMLS:C1848552 E (Exact mapping: the two concepts are equivalent) CblF defect Cobalamin F defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF Lysosomal membrane cobalamin transporter deficiency Methylmalonic aciduria with homocystinuria, type cblF <i>cblF</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. Orphanet ICD-10:E72.1 ICD-11:5C50.E0 MeSH:C564747 OMIM:277380 UMLS:C1848578 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79284 Methylmalonic acidemia with homocystinuria type cblF Clinical subtype ORPHA:79284 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564747 E (Exact mapping: the two concepts are equivalent) OMIM:277380 E (Exact mapping: the two concepts are equivalent) UMLS:C1848578 E (Exact mapping: the two concepts are equivalent) Niemann-Pick disease, Nova Scotia type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Niemann-Pick disease type C UMLS:C0268247 Niemann-Pick disease type D ORPHA:79289 UMLS:C0268247 E (Exact mapping: the two concepts are equivalent) FED Partial LCAT deficiency Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. Orphanet ICD-10:E78.6 ICD-11:5C81.0 OMIM:136120 UMLS:C0342895 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79292 Fish-eye disease Clinical subtype ORPHA:79292 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:136120 E (Exact mapping: the two concepts are equivalent) UMLS:C0342895 E (Exact mapping: the two concepts are equivalent) Complete LCAT deficiency FLD Norum disease Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Orphanet ICD-10:E78.6 ICD-11:5C81.0 OMIM:245900 UMLS:C4087498 Autosomal recessive Not applicable All ages Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79293 Familial LCAT deficiency Clinical subtype ORPHA:79293 ICD-10:E78.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:245900 E (Exact mapping: the two concepts are equivalent) UMLS:C4087498 E (Exact mapping: the two concepts are equivalent) Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide. Orphanet UMLS:C5680204 All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79298 Diazoxide-resistant focal hyperinsulinism Clinical group ORPHA:79298 UMLS:C5680204 E (Exact mapping: the two concepts are equivalent) Glucokinase-related hyperinsulinemic hypoglycemia A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. Orphanet ICD-10:E16.1 OMIM:602485 UMLS:C4274019 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79299 Congenital glucokinase-related hyperinsulinism ORPHA:79299 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602485 E (Exact mapping: the two concepts are equivalent) UMLS:C4274019 E (Exact mapping: the two concepts are equivalent) Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis. Orphanet ICD-10:M86.3 ICD-11:4A61 MeSH:D020083 MedDRA:10051316 UMLS:C0263859 Multigenic/multifactorial Not applicable Adolescent Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=793 SAPHO syndrome ORPHA:793 ICD-10:M86.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020083 E (Exact mapping: the two concepts are equivalent) MedDRA:10051316 E (Exact mapping: the two concepts are equivalent) UMLS:C0263859 E (Exact mapping: the two concepts are equivalent) 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency BASD1 Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. Orphanet ICD-10:K76.8 ICD-11:5C52.11 MeSH:C535442 OMIM:607765 UMLS:C1843116 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79301 Congenital bile acid synthesis defect type 1 ORPHA:79301 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535442 E (Exact mapping: the two concepts are equivalent) OMIM:607765 E (Exact mapping: the two concepts are equivalent) UMLS:C1843116 E (Exact mapping: the two concepts are equivalent) BASD3 Oxysterol 7-alpha-hydroxylase deficiency Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease. Orphanet ICD-10:K76.8 ICD-11:5C52.11 MeSH:C566340 OMIM:613812 UMLS:C4304715 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79302 Congenital bile acid synthesis defect type 3 ORPHA:79302 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566340 E (Exact mapping: the two concepts are equivalent) OMIM:613812 E (Exact mapping: the two concepts are equivalent) UMLS:C4304715 E (Exact mapping: the two concepts are equivalent) BASD2 Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Orphanet ICD-10:K76.8 ICD-11:5C52.11 MeSH:C535443 OMIM:235555 UMLS:C1856127 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79303 Congenital bile acid synthesis defect type 2 ORPHA:79303 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535443 E (Exact mapping: the two concepts are equivalent) OMIM:235555 E (Exact mapping: the two concepts are equivalent) UMLS:C1856127 E (Exact mapping: the two concepts are equivalent) BSEP deficiency PFIC2 Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. Orphanet ICD-10:K76.8 ICD-11:5C58.03 MeSH:C535934 OMIM:601847 UMLS:C3489789 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79304 Progressive familial intrahepatic cholestasis type 2 Clinical subtype ORPHA:79304 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535934 E (Exact mapping: the two concepts are equivalent) OMIM:601847 E (Exact mapping: the two concepts are equivalent) UMLS:C3489789 E (Exact mapping: the two concepts are equivalent) PFIC3 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. Orphanet ICD-10:K76.8 ICD-11:5C58.03 MeSH:C535935 OMIM:602347 UMLS:C1865643 Autosomal recessive All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79305 Progressive familial intrahepatic cholestasis type 3 Clinical subtype ORPHA:79305 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535935 E (Exact mapping: the two concepts are equivalent) OMIM:602347 E (Exact mapping: the two concepts are equivalent) UMLS:C1865643 E (Exact mapping: the two concepts are equivalent) Byler disease FIC1 deficiency PFIC1 PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. Orphanet ICD-10:K76.8 ICD-11:5C58.03 MeSH:C535933 OMIM:211600 UMLS:C4551898 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79306 Progressive familial intrahepatic cholestasis type 1 Clinical subtype ORPHA:79306 ICD-10:K76.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535933 E (Exact mapping: the two concepts are equivalent) OMIM:211600 E (Exact mapping: the two concepts are equivalent) UMLS:C4551898 E (Exact mapping: the two concepts are equivalent) Vitamin B12-responsive methylmalonic aciduria type cblA ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C537360 OMIM:251100 UMLS:C1855109 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79310 Vitamin B12-responsive methylmalonic acidemia type cblA Clinical subtype ORPHA:79310 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537360 E (Exact mapping: the two concepts are equivalent) OMIM:251100 E (Exact mapping: the two concepts are equivalent) UMLS:C1855109 E (Exact mapping: the two concepts are equivalent) Vitamin B12-responsive methylmalonic aciduria, type cblB ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C537361 OMIM:251110 UMLS:C1855102 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79311 Vitamin B12-responsive methylmalonic acidemia type cblB Clinical subtype ORPHA:79311 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537361 E (Exact mapping: the two concepts are equivalent) OMIM:251110 E (Exact mapping: the two concepts are equivalent) UMLS:C1855102 E (Exact mapping: the two concepts are equivalent) Partial deficiency of methylmalonyl-CoA mutase Vitamin B12-unresponsive methylmalonic aciduria type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 OMIM:251000 UMLS:C0342719 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 450.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- Clinical subtype ORPHA:79312 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:251000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0342719 E (Exact mapping: the two concepts are equivalent) L-2-HGA L-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. Orphanet ICD-10:E72.8 ICD-11:5C50.E1 OMIM:236792 UMLS:C1855995 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 140.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79314 L-2-hydroxyglutaric aciduria ORPHA:79314 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:236792 E (Exact mapping: the two concepts are equivalent) UMLS:C1855995 E (Exact mapping: the two concepts are equivalent) D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid. Orphanet ICD-10:E72.8 ICD-11:5C50.E1 OMIM:600721 OMIM:613657 UMLS:C1833429 Autosomal dominant Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79315 D-2-hydroxyglutaric aciduria ORPHA:79315 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600721 E (Exact mapping: the two concepts are equivalent) OMIM:613657 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1833429 E (Exact mapping: the two concepts are equivalent) OBSOLETE: PEPCK1 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Phosphoenolpyruvate carboxykinase deficiency OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency ORPHA:79316 OBSOLETE: PEPCK2 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Phosphoenolpyruvate carboxykinase deficiency OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency ORPHA:79317 CDG syndrome type Ia CDG-Ia CDG1A Carbohydrate deficient glycoprotein syndrome type Ia Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type Ia Phosphomannomutase 2 deficiency A rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535739 OMIM:212065 UMLS:C0349653 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.73 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79318 PMM2-CDG ORPHA:79318 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535739 E (Exact mapping: the two concepts are equivalent) OMIM:212065 E (Exact mapping: the two concepts are equivalent) UMLS:C0349653 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ib CDG-Ib CDG1B Carbohydrate deficient glycoprotein syndrome type Ib Congenital disorder of glycosylation type 1b Congenital disorder of glycosylation type Ib Phosphomannose isomerase deficiency MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene <i>MPI</i> (15q24.1). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535740 OMIM:602579 UMLS:C1865145 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79319 MPI-CDG ORPHA:79319 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535740 E (Exact mapping: the two concepts are equivalent) OMIM:602579 E (Exact mapping: the two concepts are equivalent) UMLS:C1865145 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ic CDG-Ic CDG1C Carbohydrate deficient glycoprotein syndrome type Ic Congenital disorder of glycosylation type 1c Congenital disorder of glycosylation type Ic Glucosyltransferase 1 deficiency A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene <i>ALG6</i> (1p31.3). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535741 OMIM:603147 UMLS:C2930997 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 54.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79320 ALG6-CDG ORPHA:79320 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535741 E (Exact mapping: the two concepts are equivalent) OMIM:603147 E (Exact mapping: the two concepts are equivalent) UMLS:C2930997 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Id CDG-Id CDG1D Carbohydrate deficient glycoprotein syndrome type Id Congenital disorder of glycosylation type 1d Congenital disorder of glycosylation type Id Mannosyltransferase 6 deficiency A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene <i>ALG3</i> (3q27.3). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535742 OMIM:601110 UMLS:C1832736 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79321 ALG3-CDG ORPHA:79321 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535742 E (Exact mapping: the two concepts are equivalent) OMIM:601110 E (Exact mapping: the two concepts are equivalent) UMLS:C1832736 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ie CDG-Ie CDG1E Carbohydrate deficient glycoprotein syndrome type Ie Congenital disorder of glycosylation type 1e Congenital disorder of glycosylation type Ie Dol-P-mannosyltransferase deficiency A rare disorder of multiple glycosylation pathways characterized by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C535743 OMIM:608799 UMLS:C1837396 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79322 DPM1-CDG ORPHA:79322 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535743 E (Exact mapping: the two concepts are equivalent) OMIM:608799 E (Exact mapping: the two concepts are equivalent) UMLS:C1837396 E (Exact mapping: the two concepts are equivalent) CDG syndrome type If CDG-If CDG1F Carbohydrate deficient glycoprotein syndrome type If Congenital disorder of glycosylation type 1f Congenital disorder of glycosylation type If A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C535744 OMIM:609180 UMLS:C1836669 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79323 MPDU1-CDG ORPHA:79323 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535744 E (Exact mapping: the two concepts are equivalent) OMIM:609180 E (Exact mapping: the two concepts are equivalent) UMLS:C1836669 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ig CDG-Ig CDG1G Carbohydrate deficient glycoprotein syndrome type Ig Congenital disorder of glycosylation type 1g Congenital disorder of glycosylation type Ig Mannosyltransferase 8 deficiency A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene <i>ALG12</i> (22q13.33). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535745 OMIM:607143 UMLS:C2931001 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79324 ALG12-CDG ORPHA:79324 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535745 E (Exact mapping: the two concepts are equivalent) OMIM:607143 E (Exact mapping: the two concepts are equivalent) UMLS:C2931001 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ih CDG-Ih CDG1H Carbohydrate deficient glycoprotein syndrome type Ih Congenital disorder of glycosylation type 1h Congenital disorder of glycosylation type Ih Glucosyltransferase 2 deficiency A rare form of congenital disorders of N-linked glycosylation characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene <i>ALG8</i> (11q14.1), resulting in a block in the initial step of protein glycosylation. Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535746 OMIM:608104 UMLS:C2931002 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79325 ALG8-CDG ORPHA:79325 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535746 E (Exact mapping: the two concepts are equivalent) OMIM:608104 E (Exact mapping: the two concepts are equivalent) UMLS:C2931002 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ii CDG-Ii CDG1I Carbohydrate deficient glycoprotein syndrome type Ii Congenital disorder of glycosylation type 1i Congenital disorder of glycosylation type Ii Mannosyltransferase 2 deficiency A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene <i>ALG2</i> (9q31.1). Transmission is autosomal recessive. Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C000623088 OMIM:607906 UMLS:C1842836 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79326 ALG2-CDG ORPHA:79326 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000623088 E (Exact mapping: the two concepts are equivalent) OMIM:607906 E (Exact mapping: the two concepts are equivalent) UMLS:C1842836 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ik CDG-Ik CDG1K Carbohydrate deficient glycoprotein syndrome type Ik Congenital disorder of glycosylation type 1k Congenital disorder of glycosylation type Ik Mannosyltransferase 1 deficiency A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene <i>ALG1</i> (16p13.3). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535749 OMIM:608540 UMLS:C2931005 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 57.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79327 ALG1-CDG ORPHA:79327 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535749 E (Exact mapping: the two concepts are equivalent) OMIM:608540 E (Exact mapping: the two concepts are equivalent) UMLS:C2931005 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IL CDG-IL CDG1L Carbohydrate deficient glycoprotein syndrome type IL Congenital disorder of glycosylation type 1L Mannosyltransferase 7-9 deficiency A rare form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene <i>ALG9</i> (11q23). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535750 OMIM:263210 OMIM:608776 UMLS:C2931006 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79328 ALG9-CDG ORPHA:79328 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535750 E (Exact mapping: the two concepts are equivalent) OMIM:263210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608776 E (Exact mapping: the two concepts are equivalent) UMLS:C2931006 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIa CDG-IIa CDG2A Carbohydrate deficient glycoprotein syndrome type IIa Congenital disorder of glycosylation type 2a Congenital disorder of glycosylation type IIa N-acetylglucosaminyltransferase 2 deficiency A rare form of disorder of protein N-glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene <i>MGAT2</i> (14q21). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535752 OMIM:212066 UMLS:C2931008 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79329 MGAT2-CDG ORPHA:79329 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535752 E (Exact mapping: the two concepts are equivalent) OMIM:212066 E (Exact mapping: the two concepts are equivalent) UMLS:C2931008 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIb CDG-IIb CDG2B Carbohydrate deficient glycoprotein syndrome type IIb Congenital disorder of glycosylation type 2b Congenital disorder of glycosylation type IIb Glucosidase 1 deficiency MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene <i> MOGS </i> (2p13.1). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C565264 OMIM:606056 UMLS:C1853736 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79330 MOGS-CDG ORPHA:79330 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565264 E (Exact mapping: the two concepts are equivalent) OMIM:606056 E (Exact mapping: the two concepts are equivalent) UMLS:C1853736 E (Exact mapping: the two concepts are equivalent) Beta-1,4-galactosyltransferase deficiency CDG syndrome type IId CDG-IId CDG2D Carbohydrate deficient glycoprotein syndrome type IId Congenital disorder of glycosylation type 2d Congenital disorder of glycosylation type IId B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the <i>GALT1</i> gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C535753 OMIM:607091 UMLS:C2931009 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79332 B4GALT1-CDG ORPHA:79332 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535753 E (Exact mapping: the two concepts are equivalent) OMIM:607091 E (Exact mapping: the two concepts are equivalent) UMLS:C2931009 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIe CDG-IIe CDG2E Carbohydrate deficient glycoprotein syndrome type IIe Congenital disorder of glycosylation type 2e Congenital disorder of glycosylation type IIe COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C535754 OMIM:608779 UMLS:C2931010 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79333 COG7-CDG ORPHA:79333 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535754 E (Exact mapping: the two concepts are equivalent) OMIM:608779 E (Exact mapping: the two concepts are equivalent) UMLS:C2931010 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Brachytelephalangic chondrodysplasia punctata OBSOLETE: Chondrodysplasia punctata, Sheffield type ORPHA:79344 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Orphanet ICD-10:Q77.3 ICD-11:LD24.04 MeSH:C000705207 OMIM:302950 OMIM:602497 UMLS:C1844853 X-linked recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79345 Brachytelephalangic chondrodysplasia punctata ORPHA:79345 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000705207 E (Exact mapping: the two concepts are equivalent) OMIM:302950 E (Exact mapping: the two concepts are equivalent) OMIM:602497 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1844853 E (Exact mapping: the two concepts are equivalent) A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts. Orphanet ICD-10:Q77.3 ICD-11:LD24.04 MeSH:C562961 OMIM:118651 UMLS:C0432224 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79346 Chondrodysplasia punctata, tibial-metacarpal type ORPHA:79346 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562961 E (Exact mapping: the two concepts are equivalent) OMIM:118651 E (Exact mapping: the two concepts are equivalent) UMLS:C0432224 E (Exact mapping: the two concepts are equivalent) Toriello-Higgins-Miller syndrome Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Orphanet ICD-10:Q77.3 ICD-11:LD24.04 OMIM:215105 UMLS:C4275076 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79347 Chondrodysplasia punctata, Toriello type ORPHA:79347 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:215105 E (Exact mapping: the two concepts are equivalent) UMLS:C4275076 E (Exact mapping: the two concepts are equivalent) PSPH deficiency, infantile/juvenile form 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term). Orphanet ICD-10:E72.8 ICD-11:5C50.6 OMIM:614023 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form Etiological subtype ORPHA:79350 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614023 E (Exact mapping: the two concepts are equivalent) PHGDH deficiency, infantile/juvenile form 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form Orphanet ICD-10:E72.8 ICD-11:5C50.6 OMIM:601815 UMLS:C5680205 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form Etiological subtype ORPHA:79351 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601815 E (Exact mapping: the two concepts are equivalent) UMLS:C5680205 E (Exact mapping: the two concepts are equivalent) UMLS:C5681492 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79353 Epidermal disease Category ORPHA:79353 UMLS:C5681492 E (Exact mapping: the two concepts are equivalent) MeSH:D007057 MedDRA:10021198 UMLS:C0020757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79354 Ichthyosis Category ORPHA:79354 MeSH:D007057 E (Exact mapping: the two concepts are equivalent) MedDRA:10021198 E (Exact mapping: the two concepts are equivalent) UMLS:C0020757 E (Exact mapping: the two concepts are equivalent) MedDRA:10015280 UMLS:C0432330 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79355 Erythrokeratoderma Category ORPHA:79355 MedDRA:10015280 E (Exact mapping: the two concepts are equivalent) UMLS:C0432330 E (Exact mapping: the two concepts are equivalent) UMLS:C5681491 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79356 Acrokeratoderma Category ORPHA:79356 UMLS:C5681491 E (Exact mapping: the two concepts are equivalent) Hereditary PPK Hereditary keratosis palmoplantaris Hereditary palmoplantar hyperkeratosis ICD-11:EC20.3 MedDRA:10072537 UMLS:C0406757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79357 Hereditary palmoplantar keratoderma Category ORPHA:79357 ICD-11:EC20.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10072537 E (Exact mapping: the two concepts are equivalent) UMLS:C0406757 E (Exact mapping: the two concepts are equivalent) ICD-11:ED52 MeSH:D017499 MedDRA:10036175 UMLS:C0162839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79358 Porokeratosis Category ORPHA:79358 ICD-11:ED52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017499 E (Exact mapping: the two concepts are equivalent) MedDRA:10036175 E (Exact mapping: the two concepts are equivalent) UMLS:C0162839 E (Exact mapping: the two concepts are equivalent) UMLS:C5681489 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79359 Other epidermal disorder Category ORPHA:79359 UMLS:C5681489 E (Exact mapping: the two concepts are equivalent) UMLS:C5681490 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79360 Other genetic epidermal disease Category ORPHA:79360 UMLS:C5681490 E (Exact mapping: the two concepts are equivalent) Epidermolysis bullosa hereditaria Hereditary epidermolysis bullosa Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. Orphanet UMLS:C1274224 Autosomal dominant Autosomal recessive All ages China AND has_point_prevalence_average_value : 0.59 AND has_point_prevalence_range : 1-9 / 1 000 000 Croatia AND has_point_prevalence_average_value : 0.96 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79361 Inherited epidermolysis bullosa Category ORPHA:79361 UMLS:C1274224 E (Exact mapping: the two concepts are equivalent) UMLS:C5681487 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79362 Epidermal appendage anomaly Category ORPHA:79362 UMLS:C5681487 E (Exact mapping: the two concepts are equivalent) UMLS:C0265991 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79363 Hair anomaly Category ORPHA:79363 UMLS:C0265991 E (Exact mapping: the two concepts are equivalent) ICD-11:ED70 MeSH:D000505 UMLS:C0002170 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79364 Alopecia Category ORPHA:79364 ICD-11:ED70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000505 E (Exact mapping: the two concepts are equivalent) UMLS:C0002170 E (Exact mapping: the two concepts are equivalent) MeSH:D006983 MedDRA:10020864 UMLS:C5681488 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79365 Rare disorder with hypertrichosis Category ORPHA:79365 MeSH:D006983 E (Exact mapping: the two concepts are equivalent) MedDRA:10020864 E (Exact mapping: the two concepts are equivalent) UMLS:C5681488 E (Exact mapping: the two concepts are equivalent) UMLS:C5681479 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79366 Isolated hair shaft abnormality Category ORPHA:79366 UMLS:C5681479 E (Exact mapping: the two concepts are equivalent) UMLS:C5681478 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79367 Syndromic hair shaft abnormality Category ORPHA:79367 UMLS:C5681478 E (Exact mapping: the two concepts are equivalent) MedDRA:10028684 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79368 Nail anomaly Category ORPHA:79368 MedDRA:10028684 E (Exact mapping: the two concepts are equivalent) UMLS:C5681477 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79369 Isolated nail anomaly Category ORPHA:79369 UMLS:C5681477 E (Exact mapping: the two concepts are equivalent) UMLS:C5681480 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79370 Syndromic nail anomaly Category ORPHA:79370 UMLS:C5681480 E (Exact mapping: the two concepts are equivalent) UMLS:C1387995 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79372 Sebaceous gland anomaly Category ORPHA:79372 UMLS:C1387995 E (Exact mapping: the two concepts are equivalent) Ectodermal dysplasia The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. Orphanet ICD-11:LD27.0 MeSH:D004476 MedDRA:10010452 UMLS:C0013575 Infancy Neonatal Worldwide AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79373 Ectodermal dysplasia syndrome Category ORPHA:79373 ICD-11:LD27.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004476 E (Exact mapping: the two concepts are equivalent) MedDRA:10010452 E (Exact mapping: the two concepts are equivalent) UMLS:C0013575 E (Exact mapping: the two concepts are equivalent) UMLS:C5681482 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79374 Pigmentation anomaly of the skin Category ORPHA:79374 UMLS:C5681482 E (Exact mapping: the two concepts are equivalent) MeSH:D017495 UMLS:C0162834 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79375 Hyperpigmentation of the skin Category ORPHA:79375 MeSH:D017495 E (Exact mapping: the two concepts are equivalent) UMLS:C0162834 E (Exact mapping: the two concepts are equivalent) MeSH:D017496 MedDRA:10040868 UMLS:C0162835 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79376 Hypopigmentation of the skin Category ORPHA:79376 MeSH:D017496 E (Exact mapping: the two concepts are equivalent) MedDRA:10040868 E (Exact mapping: the two concepts are equivalent) UMLS:C0162835 E (Exact mapping: the two concepts are equivalent) UMLS:C5681481 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79377 Dermis disorder Category ORPHA:79377 UMLS:C5681481 E (Exact mapping: the two concepts are equivalent) UMLS:C5681485 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79378 Dermis elastic tissue disorder Category ORPHA:79378 UMLS:C5681485 E (Exact mapping: the two concepts are equivalent) MeSH:D017445 MedDRA:10062171 UMLS:C0162819 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79379 Skin vascular disease Category ORPHA:79379 MeSH:D017445 E (Exact mapping: the two concepts are equivalent) MedDRA:10062171 E (Exact mapping: the two concepts are equivalent) UMLS:C0162819 E (Exact mapping: the two concepts are equivalent) UMLS:C5681484 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79380 Mixed dermis disorder Category ORPHA:79380 UMLS:C5681484 E (Exact mapping: the two concepts are equivalent) UMLS:C5681483 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79381 Other dermis disorder Category ORPHA:79381 UMLS:C5681483 E (Exact mapping: the two concepts are equivalent) UMLS:C1290008 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79382 Subcutaneous tissue disease Category ORPHA:79382 UMLS:C1290008 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Primary lymphedema OBSOLETE: Lymphedema ORPHA:79383 UMLS:C5681472 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79384 Rare urticaria Category ORPHA:79384 UMLS:C5681472 E (Exact mapping: the two concepts are equivalent) UMLS:C5681473 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79385 Unclassified genetic skin disorder Category ORPHA:79385 UMLS:C5681473 E (Exact mapping: the two concepts are equivalent) UMLS:C5681474 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79386 Rare skin tumor or hamartoma Category ORPHA:79386 UMLS:C5681474 E (Exact mapping: the two concepts are equivalent) UMLS:C5681475 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79387 Metabolic disease with skin involvement Category ORPHA:79387 UMLS:C5681475 E (Exact mapping: the two concepts are equivalent) MPS with skin involvement UMLS:C5680198 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79388 Mucopolysaccharidosis with skin involvement Category ORPHA:79388 UMLS:C5680198 E (Exact mapping: the two concepts are equivalent) MeSH:D019588 MedDRA:10063493 UMLS:C0231341 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79389 Premature aging Category ORPHA:79389 MeSH:D019588 E (Exact mapping: the two concepts are equivalent) MedDRA:10063493 E (Exact mapping: the two concepts are equivalent) UMLS:C0231341 E (Exact mapping: the two concepts are equivalent) Rare skin photosensitivity UMLS:C5680199 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79390 Rare photodermatosis Category ORPHA:79390 UMLS:C5680199 E (Exact mapping: the two concepts are equivalent) UMLS:C5681476 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79391 Immune deficiency with skin involvement Category ORPHA:79391 UMLS:C5681476 E (Exact mapping: the two concepts are equivalent) CIE Erythrodermic ichthyosis Non-bullous congenital ichthyosiform erythroderma A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation. Orphanet ICD-10:Q80.2 ICD-11:EC20.02 OMIM:242100 OMIM:606545 OMIM:612281 OMIM:615022 OMIM:615023 OMIM:615024 UMLS:C0079154 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79394 Congenital ichthyosiform erythroderma ORPHA:79394 ICD-10:Q80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:242100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606545 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612281 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615022 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615023 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615024 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0079154 E (Exact mapping: the two concepts are equivalent) Camisa disease Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Loricrin keratoderma Vohwinkel syndrome with ichthyosis A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 OMIM:604117 UMLS:C1858805 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79395 Keratoderma hereditarium mutilans with ichthyosis ORPHA:79395 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:604117 E (Exact mapping: the two concepts are equivalent) UMLS:C1858805 E (Exact mapping: the two concepts are equivalent) Autosomal dominant generalized EBS, severe form Epidermolysis bullosa simplex herpetiformis Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. Orphanet ICD-10:Q81.0 ICD-11:EC30 OMIM:131760 OMIM:619555 UMLS:C0079295 Autosomal dominant Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form ORPHA:79396 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:131760 E (Exact mapping: the two concepts are equivalent) OMIM:619555 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0079295 E (Exact mapping: the two concepts are equivalent) EBS with mottled pigmentation EBS-MP A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk. Orphanet ICD-10:Q81.0 ICD-11:EC30 MeSH:C535959 OMIM:131960 UMLS:C0432316 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79397 Epidermolysis bullosa simplex with mottled pigmentation ORPHA:79397 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535959 E (Exact mapping: the two concepts are equivalent) OMIM:131960 E (Exact mapping: the two concepts are equivalent) UMLS:C0432316 E (Exact mapping: the two concepts are equivalent) Autosomal dominant generalized EBS, intermediate form Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Köbner type Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. Orphanet ICD-10:Q81.0 ICD-11:EC30 OMIM:131900 UMLS:C0079299 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form ORPHA:79399 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:131900 E (Exact mapping: the two concepts are equivalent) UMLS:C0079299 E (Exact mapping: the two concepts are equivalent) ACS3 Acrocephalosyndactyly type 3 SCS A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. Orphanet ICD-10:Q87.0 ICD-11:LD24.GY OMIM:101400 OMIM:180750 UMLS:C0175699 Autosomal dominant Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=794 Saethre-Chotzen syndrome ORPHA:794 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:101400 E (Exact mapping: the two concepts are equivalent) OMIM:180750 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0175699 E (Exact mapping: the two concepts are equivalent) EBS-loc Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex, Weber-Cockayne type Localized EBS Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. Orphanet ICD-10:Q81.0 ICD-11:EC30 OMIM:131800 OMIM:619594 UMLS:C0080333 Autosomal dominant Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79400 Localized epidermolysis bullosa simplex ORPHA:79400 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:131800 E (Exact mapping: the two concepts are equivalent) OMIM:619594 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0080333 E (Exact mapping: the two concepts are equivalent) PLEC-related intermediate EBS without extracutaneous involvement A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis. Orphanet ICD-10:Q81.0 ICD-11:EC30 MeSH:C535962 OMIM:131950 UMLS:C0432317 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement ORPHA:79401 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535962 E (Exact mapping: the two concepts are equivalent) OMIM:131950 E (Exact mapping: the two concepts are equivalent) UMLS:C0432317 E (Exact mapping: the two concepts are equivalent) Generalized atrophic benign epidermolysis bullosa Generalized junctional epidermolysis bullosa, non-Herlitz type Intermediate generalized JEB Junctional epidermolysis bullosa generalisata mitis Junctional epidermolysis bullosa, Disentis type A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. Orphanet ICD-10:Q81.8 OMIM:226650 OMIM:619783 OMIM:619785 OMIM:619787 OMIM:619816 UMLS:C5680200 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79402 Intermediate generalized junctional epidermolysis bullosa ORPHA:79402 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:226650 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:619783 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619785 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619787 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619816 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680200 E (Exact mapping: the two concepts are equivalent) Carmi syndrome JEB with pyloric atresia JEB-PA A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. Orphanet ICD-10:Q81.8 ICD-11:EC31 MeSH:C535377 OMIM:226730 OMIM:619817 UMLS:C1856934 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79403 Junctional epidermolysis bullosa with pyloric atresia ORPHA:79403 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535377 E (Exact mapping: the two concepts are equivalent) OMIM:226730 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619817 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1856934 E (Exact mapping: the two concepts are equivalent) Epidermolysis bullosa letalis JEB-H Junctional epidermolysis bullosa generalisata gravis Junctional epidermolysis bullosa, Herlitz type Junctional epidermolysis bullosa, Herlitz-Pearson type Severe generalized JEB A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. Orphanet ICD-10:Q81.1 ICD-11:EC31 OMIM:226700 OMIM:619786 UMLS:C0079683 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.04 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.17 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79404 Severe generalized junctional epidermolysis bullosa ORPHA:79404 ICD-10:Q81.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EC31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:226700 E (Exact mapping: the two concepts are equivalent) OMIM:619786 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0079683 E (Exact mapping: the two concepts are equivalent) JEB inversa JEB-I A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions. Orphanet ICD-10:Q81.8 ICD-11:EC31 OMIM:226650 UMLS:C2673609 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79405 Junctional epidermolysis bullosa inversa ORPHA:79405 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:226650 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2673609 E (Exact mapping: the two concepts are equivalent) Epidermolysis bullosa progressiva JEB-lo Late-onset JEB A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. Orphanet ICD-10:Q81.8 ICD-11:EC31 OMIM:619787 UMLS:C4304724 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79406 Late-onset junctional epidermolysis bullosa ORPHA:79406 ICD-10:Q81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:619787 E (Exact mapping: the two concepts are equivalent) UMLS:C4304724 E (Exact mapping: the two concepts are equivalent) DDEB, Cockayne-Touraine type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant generalized dystrophic epidermolysis bullosa Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type ORPHA:79407 Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type Generalized RDEB, severe form RDEB generalisata gravis RDEB, Hallopeau-Siemens type Severe generalized RDEB A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Orphanet ICD-10:Q81.2 ICD-11:EC32 OMIM:226600 UMLS:C4510043 Autosomal recessive Neonatal Europe AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.963 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.2222 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form ORPHA:79408 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:226600 E (Exact mapping: the two concepts are equivalent) UMLS:C4510043 E (Exact mapping: the two concepts are equivalent) RDEB inversa RDEB-I A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites. Orphanet ICD-10:Q81.2 ICD-11:EC32 OMIM:226600 UMLS:C5680201 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79409 Recessive dystrophic epidermolysis bullosa inversa ORPHA:79409 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:226600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680201 E (Exact mapping: the two concepts are equivalent) DEB-Pt Localized DEB, pretibial form A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic. Orphanet ICD-10:Q81.2 ICD-11:EC32 OMIM:131850 UMLS:C0432321 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79410 Localized dystrophic epidermolysis bullosa, pretibial form Clinical subtype ORPHA:79410 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:131850 E (Exact mapping: the two concepts are equivalent) UMLS:C0432321 E (Exact mapping: the two concepts are equivalent) Self-improving DEB Transient bullous dermolysis of the newborn A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Orphanet ICD-10:Q81.2 ICD-11:EC32 MeSH:C536979 OMIM:131705 UMLS:C1851573 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 52.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79411 Self-improving dystrophic epidermolysis bullosa ORPHA:79411 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536979 E (Exact mapping: the two concepts are equivalent) OMIM:131705 E (Exact mapping: the two concepts are equivalent) UMLS:C1851573 E (Exact mapping: the two concepts are equivalent) Wooly hair nevus Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. Orphanet ICD-10:D23.4 ICD-11:LC01 OMIM:162900 UMLS:C0343114 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79414 Woolly hair nevus ORPHA:79414 ICD-10:D23.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:162900 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0343114 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neurofibromatosis type 1 OBSOLETE: Familial segmental neurofibromatosis ORPHA:79428 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neurofibromatosis type 1 OBSOLETE: Familial spinal neurofibromatosis ORPHA:79429 HPS A rare multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. The clinical subtypes of Hermansky-Pudlak syndrome (HPS) often present the same clinical phenotype but have different associated complications with varying degrees of severity. Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:D022861 MedDRA:10071775 OMIM:203300 OMIM:608233 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:614076 OMIM:614077 OMIM:614171 OMIM:617050 OMIM:619172 UMLS:C0079504 Autosomal recessive Infancy Neonatal Puerto rico AND has_point_prevalence_average_value : 55.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79430 Hermansky-Pudlak syndrome ORPHA:79430 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D022861 E (Exact mapping: the two concepts are equivalent) MedDRA:10071775 E (Exact mapping: the two concepts are equivalent) OMIM:203300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608233 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614072 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614073 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614074 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614075 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614076 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614077 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614171 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619172 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0079504 E (Exact mapping: the two concepts are equivalent) OCA1A Tyrosinase-negative oculocutaneous albinism A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. Orphanet ICD-10:E70.3 ICD-11:EC23.20 OMIM:203100 UMLS:C4551504 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79431 Oculocutaneous albinism type 1A Clinical subtype ORPHA:79431 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:203100 E (Exact mapping: the two concepts are equivalent) UMLS:C4551504 E (Exact mapping: the two concepts are equivalent) OCA2 A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:C537730 OMIM:203200 UMLS:C0268495 Autosomal recessive Infancy Neonatal Africa AND has_point_prevalence_average_value : 48.52 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 58.34 AND has_point_prevalence_range : 6-9 / 10 000 Tanzania, United Republic of AND has_point_prevalence_average_value : 71.43 AND has_point_prevalence_range : 6-9 / 10 000 United States AND has_point_prevalence_average_value : 2.78 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.55 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79432 Oculocutaneous albinism type 2 ORPHA:79432 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537730 E (Exact mapping: the two concepts are equivalent) OMIM:203200 E (Exact mapping: the two concepts are equivalent) UMLS:C0268495 E (Exact mapping: the two concepts are equivalent) OCA3 Red oculocutaneous albinism Rufous oculocutaneous albinism Xanthous oculocutaneous albinism A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:C537189 OMIM:203290 UMLS:C0342683 Autosomal recessive Infancy Neonatal Africa AND has_point_prevalence_average_value : 11.7647 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79433 Oculocutaneous albinism type 3 ORPHA:79433 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537189 E (Exact mapping: the two concepts are equivalent) OMIM:203290 E (Exact mapping: the two concepts are equivalent) UMLS:C0342683 E (Exact mapping: the two concepts are equivalent) OCA1B Oculocutaneous albinism, Amish type Platinum oculocutaneous albinism Yellow oculocutaneous albinism A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:C537729 OMIM:606952 UMLS:C1847024 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79434 Oculocutaneous albinism type 1B Clinical subtype ORPHA:79434 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537729 E (Exact mapping: the two concepts are equivalent) OMIM:606952 E (Exact mapping: the two concepts are equivalent) UMLS:C1847024 E (Exact mapping: the two concepts are equivalent) OCA4 A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Orphanet ICD-10:E70.3 ICD-11:EC23.20 MeSH:C564696 OMIM:606574 UMLS:C1847836 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79435 Oculocutaneous albinism type 4 ORPHA:79435 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564696 E (Exact mapping: the two concepts are equivalent) OMIM:606574 E (Exact mapping: the two concepts are equivalent) UMLS:C1847836 E (Exact mapping: the two concepts are equivalent) AHO-PHP syndrome Ia Albright hereditary osteodystrophy-PHP syndrome Ia Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term). Orphanet ICD-10:E20.1 ICD-11:5A50.1 OMIM:103580 UMLS:C3494506 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79443 Pseudohypoparathyroidism type 1A ORPHA:79443 ICD-10:E20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:103580 E (Exact mapping: the two concepts are equivalent) UMLS:C3494506 E (Exact mapping: the two concepts are equivalent) Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha). Orphanet ICD-10:E20.1 ICD-11:5A50.1 MeSH:C548076 OMIM:612462 UMLS:C2932716 Autosomal dominant Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79444 Pseudohypoparathyroidism type 1C ORPHA:79444 ICD-10:E20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548076 E (Exact mapping: the two concepts are equivalent) OMIM:612462 E (Exact mapping: the two concepts are equivalent) UMLS:C2932716 E (Exact mapping: the two concepts are equivalent) AHO-PPHP syndrome Albright hereditary osteodystrophy-PPHP syndrome Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term). Orphanet ICD-10:E20.1 ICD-11:5A50.1 MeSH:D011556 OMIM:612463 UMLS:C0033835 Autosomal dominant All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79445 Pseudopseudohypoparathyroidism ORPHA:79445 ICD-10:E20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D011556 E (Exact mapping: the two concepts are equivalent) OMIM:612463 E (Exact mapping: the two concepts are equivalent) UMLS:C0033835 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bartsocas-Papas syndrome Multiple pterygium syndrome, Aslan type ORPHA:79446 X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance. Orphanet ICD-10:Q79.8 ICD-11:LD26.40 OMIM:312150 UMLS:C4706472 X-linked dominant X-linked recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79447 X-linked lethal multiple pterygium syndrome ORPHA:79447 ICD-10:Q79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:312150 E (Exact mapping: the two concepts are equivalent) UMLS:C4706472 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Milroy disease Non-hereditary congenital primary lymphedema ORPHA:79450 Hereditary lymphedema type I Nonne-Milroy lymphedema Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. Orphanet ICD-10:Q82.0 ICD-11:BD93.0 OMIM:153100 OMIM:247440 OMIM:611944 OMIM:613480 OMIM:615907 UMLS:C1704423 Autosomal dominant Infancy Neonatal Israel AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79452 Milroy disease ORPHA:79452 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:153100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:247440 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611944 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613480 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615907 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1704423 E (Exact mapping: the two concepts are equivalent) Cutaneous local mastocytoma Multiple mastocytoma Solitary mastocytoma Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin. Orphanet ICD-10:Q82.2 ICD-11:2A21.1Y MeSH:D054705 UMLS:C0343115 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79455 Cutaneous mastocytoma ORPHA:79455 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054705 E (Exact mapping: the two concepts are equivalent) UMLS:C0343115 E (Exact mapping: the two concepts are equivalent) DCM Diffuse cutaneous maculopapulous mastocytosis Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term). Orphanet ICD-10:Q82.2 ICD-11:2A21.1Y ICD-11:XH2RG8 MedDRA:10012812 UMLS:C0024901 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79456 Diffuse cutaneous mastocytosis ORPHA:79456 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH2RG8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10012812 E (Exact mapping: the two concepts are equivalent) UMLS:C0024901 E (Exact mapping: the two concepts are equivalent) Urticaria pigmentosa Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Orphanet ICD-10:Q82.2 ICD-11:2A21.10 MeSH:D014582 MedDRA:10046752 OMIM:154800 UMLS:C0042111 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79457 Maculopapular cutaneous mastocytosis ORPHA:79457 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A21.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014582 E (Exact mapping: the two concepts are equivalent) MedDRA:10046752 E (Exact mapping: the two concepts are equivalent) OMIM:154800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0042111 E (Exact mapping: the two concepts are equivalent) Congenital hypotrichosis-milia syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bazex-Dupré-Christol syndrome Oley syndrome ORPHA:79458 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Bazex-Dupré-Christol syndrome OBSOLETE: Follicular atrophoderma-basal cell carcinoma ORPHA:79459 ILVEN ICD-10:Q82.5 ICD-11:LC00.Y UMLS:C0473574 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79466 Inflammatory linear verrucous epidermal nevus Clinical subtype ORPHA:79466 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0473574 E (Exact mapping: the two concepts are equivalent) ICD-10:Q82.5 ICD-11:LC00.Y UMLS:C0362030 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79467 Verrucous nevus Clinical subtype ORPHA:79467 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LC00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0362030 E (Exact mapping: the two concepts are equivalent) ICD-10:Q82.5 UMLS:C5681486 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79468 Acanthokeratolytic verrucous nevus Clinical subtype ORPHA:79468 ICD-10:Q82.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681486 E (Exact mapping: the two concepts are equivalent) Porphyria variegata Protoporphyrinogen oxidase deficiency A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions. Orphanet ICD-10:E80.2 ICD-11:5C58.13 MeSH:D046350 OMIM:176200 UMLS:C0162532 Autosomal dominant Adolescent Adult Europe AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.32 AND has_point_prevalence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.48 AND has_point_prevalence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_point_prevalence_average_value : 0.64 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.44 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_point_prevalence_average_value : 1.04 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.32 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79473 Variegate porphyria ORPHA:79473 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.13 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D046350 E (Exact mapping: the two concepts are equivalent) OMIM:176200 E (Exact mapping: the two concepts are equivalent) UMLS:C0162532 E (Exact mapping: the two concepts are equivalent) Atypical progeroid syndrome A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry <i>WRN</i> gene mutations. Similar to classical WS caused by <i>WRN</i> mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Orphanet ICD-10:E34.8 ICD-11:LD2B UMLS:C4275075 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79474 Atypical Werner syndrome ORPHA:79474 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275075 E (Exact mapping: the two concepts are equivalent) Griscelli-Pruniéras syndrome type 1 Hypopigmentation-neurologic impairment syndrome ICD-10:E70.3 ICD-11:EC23.2Y MeSH:C537301 OMIM:214450 UMLS:C1859194 Childhood Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79476 Griscelli syndrome type 1 Clinical subtype ORPHA:79476 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537301 E (Exact mapping: the two concepts are equivalent) OMIM:214450 E (Exact mapping: the two concepts are equivalent) UMLS:C1859194 E (Exact mapping: the two concepts are equivalent) Griscelli-Pruniéras syndrome type 2 Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life. Orphanet ICD-10:E70.3 ICD-11:4A01.23 MeSH:C537302 OMIM:607624 UMLS:C1868679 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 102.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79477 Griscelli syndrome type 2 Clinical subtype ORPHA:79477 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537302 E (Exact mapping: the two concepts are equivalent) OMIM:607624 E (Exact mapping: the two concepts are equivalent) UMLS:C1868679 E (Exact mapping: the two concepts are equivalent) Griscelli-Pruniéras syndrome type 3 ICD-10:E70.3 ICD-11:EC23.2Y MeSH:C537303 OMIM:609227 UMLS:C1836573 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79478 Griscelli syndrome type 3 Clinical subtype ORPHA:79478 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537303 E (Exact mapping: the two concepts are equivalent) OMIM:609227 E (Exact mapping: the two concepts are equivalent) UMLS:C1836573 E (Exact mapping: the two concepts are equivalent) A rare autoimmune bullous skin disease characterized by mucocutaneous bullae with subsequent erosion and formation of vegetative plaques, predominantly affecting intertriginous areas and the oral mucosa. Two clinical forms of the disease are recognized: the Hallopeau type, which presents an indolent course with pustules healing as vegetative plaques and frequent lack of involvement of the oral mucosa, and the Neumann type, which takes a more severe, refractory course with vegetations developing during an eruption of vesiculobullous lesions and involvement of the oral mucosa. Serum analysis reveals antibodies against desmoglein 1 and 3. Orphanet ICD-10:L10.1 ICD-11:EB40.0Y MedDRA:10057053 UMLS:C0263316 All ages Germany AND has_point_prevalence_average_value : 0.391 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79479 Pemphigus vegetans ORPHA:79479 ICD-10:L10.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB40.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10057053 E (Exact mapping: the two concepts are equivalent) UMLS:C0263316 E (Exact mapping: the two concepts are equivalent) Seborrheic pemphigus Senear-Usher syndrome A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed. Orphanet ICD-10:L10.4 ICD-11:EB40.1 MedDRA:10058917 UMLS:C0263312 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79480 Pemphigus erythematosus ORPHA:79480 ICD-10:L10.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB40.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10058917 E (Exact mapping: the two concepts are equivalent) UMLS:C0263312 E (Exact mapping: the two concepts are equivalent) A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. Orphanet ICD-10:L10.2 ICD-11:EB40.1 MedDRA:10057069 UMLS:C0263313 All ages Germany AND has_point_prevalence_average_value : 1.001 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79481 Pemphigus foliaceus ORPHA:79481 ICD-10:L10.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10057069 E (Exact mapping: the two concepts are equivalent) UMLS:C0263313 E (Exact mapping: the two concepts are equivalent) Akesson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata OMIM:304200 UMLS:C0795848 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome ORPHA:79482 OMIM:304200 E (Exact mapping: the two concepts are equivalent) UMLS:C0795848 E (Exact mapping: the two concepts are equivalent) Phakomatosis pigmentovascularis type 2 ICD-10:Q85.8 ICD-11:LD2D.Y UMLS:C3838883 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79483 Phakomatosis cesioflammea Clinical subtype ORPHA:79483 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3838883 E (Exact mapping: the two concepts are equivalent) Phakomatosis pigmentovascularis type 5 ICD-10:Q85.8 ICD-11:LD2D.Y UMLS:C3839296 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79484 Phakomatosis cesiomarmorata Clinical subtype ORPHA:79484 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3839296 E (Exact mapping: the two concepts are equivalent) Phakomatosis pigmentovascularis type 3 ICD-10:Q85.8 ICD-11:LD2D.Y UMLS:C3839763 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79485 Phakomatosis spilorosea Clinical subtype ORPHA:79485 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3839763 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Macrocystic lymphatic malformation OMIM:257350 Cystic hygroma ORPHA:79486 OMIM:257350 E (Exact mapping: the two concepts are equivalent) Cavernous lymphangioma Cavernous lymphatic malformation Macrocystic lymphangioma A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur. Orphanet ICD-10:D18.1 ICD-11:LA90.10 UMLS:C0205828 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79489 Macrocystic lymphatic malformation ORPHA:79489 ICD-10:D18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0205828 E (Exact mapping: the two concepts are equivalent) Capillary lymphangioma Capillary lymphatic malformation Cutaneous lymphangioma circumscriptum Microcystic infiltrating lymphatic malformation Microcystic lymphangioma Superficial lymphangioma Superficial lymphatic malformation A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur. Orphanet ICD-10:D18.1 ICD-11:LA90.11 UMLS:C4738056 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79490 Microcystic lymphatic malformation ORPHA:79490 ICD-10:D18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4738056 E (Exact mapping: the two concepts are equivalent) Pili multigemini A rare isolated hair shaft abnormality characterized by multiple hair shafts arise from a single pilosebaceous canal and emerge from a single follicular ostium. It can occur in each type of hair; mostly in bread of men or in the other uncommon locations of the body (such as the back or abdomen). Folliculitis may also be present. Most of the patients are asymptomatic, however, some may present with recurrent inflammatory lesions which can have residual atrophic or hypertrophic scars. Persisting itching is also reported in some patients. Orphanet ICD-10:L67.8 ICD-11:ED73.Y MeSH:C537188 UMLS:C0019571 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79492 Pili gemini ORPHA:79492 ICD-10:L67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537188 E (Exact mapping: the two concepts are equivalent) UMLS:C0019571 E (Exact mapping: the two concepts are equivalent) CYLD cutaneous syndrome A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas Orphanet ICD-10:D23.4 ICD-10:D23.5 ICD-11:2F22 MedDRA:10087912 OMIM:132700 OMIM:601606 OMIM:605041 OMIM:612099 UMLS:C1857941 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79493 Brooke-Spiegler syndrome ORPHA:79493 ICD-10:D23.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D23.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087912 E (Exact mapping: the two concepts are equivalent) OMIM:132700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601606 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605041 E (Exact mapping: the two concepts are equivalent) OMIM:612099 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1857941 E (Exact mapping: the two concepts are equivalent) Congenital generalized hypertrichosis, Macias-Flores type Macias Flores-Garcia Cruz-Rivera syndrome X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. Orphanet ICD-10:Q84.2 ICD-11:LD27.0Y MeSH:C538388 OMIM:307150 UMLS:C1855900 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79495 X-linked congenital generalized hypertrichosis Clinical subtype ORPHA:79495 ICD-10:Q84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538388 E (Exact mapping: the two concepts are equivalent) OMIM:307150 E (Exact mapping: the two concepts are equivalent) UMLS:C1855900 E (Exact mapping: the two concepts are equivalent) Autosomal dominant hearing loss-onychodystrophy syndrome DDOD syndrome A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C567274 OMIM:124480 UMLS:C2675730 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79499 Autosomal dominant deafness-onychodystrophy syndrome ORPHA:79499 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567274 E (Exact mapping: the two concepts are equivalent) OMIM:124480 E (Exact mapping: the two concepts are equivalent) UMLS:C2675730 E (Exact mapping: the two concepts are equivalent) Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with <i>Salmonella enterica</i> typhoidal species (<i>S.</i> typhi and <i>S.</i> paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of <i>S.</i> typhimurium and <i>S.</i> enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly. Orphanet MedDRA:10039447 UMLS:C5680518 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=795 Rare form of salmonellosis Category ORPHA:795 MedDRA:10039447 E (Exact mapping: the two concepts are equivalent) UMLS:C5680518 E (Exact mapping: the two concepts are equivalent) Autosomal recessive deafness-onychodystrophy syndrome Autosomal recessive hearing loss-onychodystrophy syndrome DOOR syndrome Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome Deafness-onychoosteodystrophy-intellectual disability syndrome Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome Hearing loss-onychoosteodystrophy-intellectual disability syndrome A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MeSH:C563052 MedDRA:10080835 OMIM:220500 UMLS:C0795934 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79500 DOORS syndrome ORPHA:79500 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563052 E (Exact mapping: the two concepts are equivalent) MedDRA:10080835 E (Exact mapping: the two concepts are equivalent) OMIM:220500 E (Exact mapping: the two concepts are equivalent) UMLS:C0795934 E (Exact mapping: the two concepts are equivalent) Buschke-Fischer-Brauer syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type PPKP1 A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. Orphanet ICD-10:Q82.8 ICD-11:EC20.32 MeSH:C536161 OMIM:148600 OMIM:614936 UMLS:C1835662 Autosomal dominant Adolescent Adult Croatia AND has_point_prevalence_average_value : 1.17 AND has_point_prevalence_range : 1-9 / 100 000 Slovenia AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 437.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79501 Punctate palmoplantar keratoderma type 1 ORPHA:79501 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536161 E (Exact mapping: the two concepts are equivalent) OMIM:148600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614936 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1835662 E (Exact mapping: the two concepts are equivalent) PPKP2 PPPP Porokeratosis punctata palmaris et plantaris Punctate palmoplantar hyperkeratosis type 2 Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed. Orphanet ICD-10:Q82.8 ICD-11:EC20.32 MeSH:C536338 OMIM:175860 UMLS:C1867982 Autosomal dominant Adult Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79502 Punctate palmoplantar keratoderma type 2 ORPHA:79502 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536338 E (Exact mapping: the two concepts are equivalent) OMIM:175860 E (Exact mapping: the two concepts are equivalent) UMLS:C1867982 E (Exact mapping: the two concepts are equivalent) Ichthyosis hystrix, Curth-Macklin type Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term). Orphanet ICD-10:Q80.8 ICD-11:EC20.03 MeSH:C536088 OMIM:146590 UMLS:C1840296 Autosomal dominant Not applicable Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79503 Ichthyosis hystrix of Curth-Macklin ORPHA:79503 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536088 E (Exact mapping: the two concepts are equivalent) OMIM:146590 E (Exact mapping: the two concepts are equivalent) UMLS:C1840296 E (Exact mapping: the two concepts are equivalent) Ichthyosis, Lambert type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ichthyosis hystrix of Curth-Macklin MeSH:C536087 OMIM:146600 UMLS:C0432311 Ichthyosis hystrix gravior ORPHA:79504 MeSH:C536087 E (Exact mapping: the two concepts are equivalent) OMIM:146600 E (Exact mapping: the two concepts are equivalent) UMLS:C0432311 E (Exact mapping: the two concepts are equivalent) OBSOLETE: CEPT deficiency OBSOLETE: Familial hyperalphalipoproteinemia type I This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial Hyperalphalipoproteinemia OBSOLETE: Cholesterol-ester transfer protein deficiency ORPHA:79506 LTC4 synthase deficiency Leukotriene C4 synthase deficiency Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Orphanet ICD-10:E88.8 MeSH:C565439 OMIM:614037 UMLS:C3279662 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79507 Hypotonia-failure to thrive-microcephaly syndrome ORPHA:79507 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565439 E (Exact mapping: the two concepts are equivalent) OMIM:614037 E (Exact mapping: the two concepts are equivalent) UMLS:C3279662 E (Exact mapping: the two concepts are equivalent) A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A and hexosaminidase B deficiency as a consequence of biallelic pathogenic variants in the <i>HEXB</i> gene. Orphanet ICD-10:E75.0 ICD-11:5C56.00 MeSH:D012497 OMIM:268800 UMLS:C0036161 Autosomal recessive Adolescent Adult Childhood Infancy Australia AND has_birth_prevalence_average_value : 0.26 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.49 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Turkey AND has_birth_prevalence_average_value : 0.95 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=796 Sandhoff disease ORPHA:796 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D012497 E (Exact mapping: the two concepts are equivalent) OMIM:268800 E (Exact mapping: the two concepts are equivalent) UMLS:C0036161 E (Exact mapping: the two concepts are equivalent) Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Orphanet ICD-10:E16.1 OMIM:256450 UMLS:C5191077 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency ORPHA:79643 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:256450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5191077 E (Exact mapping: the two concepts are equivalent) Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Orphanet ICD-10:E16.1 OMIM:601820 UMLS:C5191078 Autosomal recessive Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency ORPHA:79644 ICD-10:E16.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601820 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5191078 E (Exact mapping: the two concepts are equivalent) Mild HPA Non-PKU HPA mHPA A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders. Orphanet ICD-10:E70.1 ICD-11:5C50.0Y OMIM:261600 UMLS:C5680207 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79651 Mild hyperphenylalaninemia Clinical subtype ORPHA:79651 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:261600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680207 E (Exact mapping: the two concepts are equivalent) Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. Orphanet ICD-10:D12.6 ICD-11:LD2D.3 MeSH:D005736 MedDRA:10017727 OMIM:175100 UMLS:C0017097 Adult Worldwide AND has_birth_prevalence_average_value : 9.1 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79665 Gardner syndrome Clinical subtype ORPHA:79665 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005736 E (Exact mapping: the two concepts are equivalent) MedDRA:10017727 E (Exact mapping: the two concepts are equivalent) OMIM:175100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0017097 E (Exact mapping: the two concepts are equivalent) UMLS:C5681494 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79669 Autoimmune bullous skin disease Clinical group ORPHA:79669 UMLS:C5681494 E (Exact mapping: the two concepts are equivalent) Besnier-Boeck-Schaumann disease Boeck sarcoid A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome. Orphanet ICD-10:D86.0 ICD-10:D86.1 ICD-10:D86.2 ICD-10:D86.3 ICD-10:D86.8 ICD-10:D86.9 ICD-11:4B20 ICD-11:4B20.1 ICD-11:4B20.2 ICD-11:4B20.3 ICD-11:4B20.4 ICD-11:4B20.5 MeSH:D012507 MedDRA:10039486 OMIM:181000 OMIM:612387 OMIM:612388 UMLS:C0036202 Multigenic/multifactorial Adolescent Adult Childhood Elderly Australia AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 10.5 AND has_point_prevalence_range : 1-5 / 10 000 Croatia AND has_annual_incidence_average_value : 3.3 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 63.0 AND has_point_prevalence_range : 6-9 / 10 000 Denmark AND has_annual_incidence_average_value : 4.68 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_average_value : 28.2 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 4.9 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 30.2 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_annual_incidence_average_value : 1.07 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 5.89 AND has_point_prevalence_range : 1-9 / 100 000 Guadeloupe AND has_annual_incidence_average_value : 2.3 AND has_annual_incidence_range : 1-9 / 100 000 Guadeloupe AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000 Iceland AND has_annual_incidence_average_value : 3.84 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 48.1 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_average_value : 49.0 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_annual_incidence_average_value : 1.01 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_annual_incidence_average_value : 0.125 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 14.4 AND has_annual_incidence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 26.7 AND has_point_prevalence_range : 1-5 / 10 000 Portugal AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Singapore AND has_annual_incidence_average_value : 0.56 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 4.5 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 11.5 AND has_annual_incidence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 160.0 AND has_point_prevalence_range : >1 / 1000 Switzerland AND has_annual_incidence_average_value : 7.0 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_range : 6-9 / 10 000 Taiwan, Province of China AND has_point_prevalence_average_value : 2.17 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 60.0 AND has_point_prevalence_range : 6-9 / 10 000 Uruguay AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=797 Sarcoidosis ORPHA:797 ICD-10:D86.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D86.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D86.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D86.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D86.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:D86.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B20.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B20.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B20.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B20.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B20.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012507 E (Exact mapping: the two concepts are equivalent) MedDRA:10039486 E (Exact mapping: the two concepts are equivalent) OMIM:181000 E (Exact mapping: the two concepts are equivalent) OMIM:612387 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612388 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0036202 E (Exact mapping: the two concepts are equivalent) SGS Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. Orphanet ICD-10:Q87.0 ICD-11:LD27.0Y MeSH:C536632 MedDRA:10063540 OMIM:269150 UMLS:C0265227 Autosomal dominant Not applicable Antenatal Infancy Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 46.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=798 Schinzel-Giedion syndrome ORPHA:798 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536632 E (Exact mapping: the two concepts are equivalent) MedDRA:10063540 E (Exact mapping: the two concepts are equivalent) OMIM:269150 E (Exact mapping: the two concepts are equivalent) UMLS:C0265227 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. Orphanet ICD-10:Q04.6 ICD-11:LA05.61 MeSH:D065707 MedDRA:10073487 OMIM:269160 UMLS:C0266484 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 1.48 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.54 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=799 Schizencephaly ORPHA:799 ICD-10:Q04.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA05.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065707 E (Exact mapping: the two concepts are equivalent) MedDRA:10073487 E (Exact mapping: the two concepts are equivalent) OMIM:269160 E (Exact mapping: the two concepts are equivalent) UMLS:C0266484 E (Exact mapping: the two concepts are equivalent) Double Y syndrome Jacobs syndrome XYY syndrome Y disomy A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. Orphanet ICD-10:Q98.5 ICD-11:LD52.1 MeSH:C535317 MedDRA:10056894 UMLS:C3266843 Not applicable Unknown All ages Denmark AND has_birth_prevalence_average_value : 14.1 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=8 47,XYY syndrome ORPHA:8 ICD-10:Q98.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD52.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535317 E (Exact mapping: the two concepts are equivalent) MedDRA:10056894 E (Exact mapping: the two concepts are equivalent) UMLS:C3266843 E (Exact mapping: the two concepts are equivalent) APLS Antiphospholipid antibody syndrome Classic APLS Classic antiphospholipid syndrome Hughes syndrome A rare systemic autoimmune disease characterized by hypercoagulability with vascular thrombosis and, in women, pregnancy morbidity (miscarriages, severe pre-eclampsia, placental insufficiency) in the presence of serum antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies. Orphanet ICD-10:D68.6 ICD-11:4A45 MeSH:D016736 MedDRA:10002817 UMLS:C0085278 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=80 Antiphospholipid syndrome ORPHA:80 ICD-10:D68.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A45 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016736 E (Exact mapping: the two concepts are equivalent) MedDRA:10002817 E (Exact mapping: the two concepts are equivalent) UMLS:C0085278 E (Exact mapping: the two concepts are equivalent) Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Myotonic chondrodystrophy Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Osteochondromuscular dystrophy SJS SJS1 Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). Orphanet ICD-10:G71.1 ICD-10:Q78.8 ICD-11:8C71.1 MedDRA:10082378 OMIM:255800 UMLS:C0036391 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 129.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=800 Schwartz-Jampel syndrome ORPHA:800 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:8C71.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10082378 E (Exact mapping: the two concepts are equivalent) OMIM:255800 E (Exact mapping: the two concepts are equivalent) UMLS:C0036391 E (Exact mapping: the two concepts are equivalent) Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Orphanet MedDRA:10039710 UMLS:C0011644 Not applicable All ages Australia AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 Australia AND has_point_prevalence_average_value : 23.0 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 469.0 AND has_point_prevalence_range : >1 / 1000 Worldwide AND has_annual_incidence_average_value : 1.41 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 42.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=801 Scleroderma Clinical group ORPHA:801 MedDRA:10039710 E (Exact mapping: the two concepts are equivalent) UMLS:C0011644 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G35 NON RARE IN EUROPE: Multiple sclerosis ORPHA:802 ICD-10:G35 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ALS Charcot disease Lou Gehrig disease A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Orphanet ICD-10:G12.2 ICD-11:8B60.0 MeSH:D000690 MedDRA:10002026 OMIM:105400 OMIM:205250 OMIM:300857 OMIM:600795 OMIM:606070 OMIM:606640 OMIM:608030 OMIM:608031 OMIM:608627 OMIM:611895 OMIM:612069 OMIM:612577 OMIM:613435 OMIM:613954 OMIM:614808 OMIM:615426 OMIM:615515 OMIM:616208 OMIM:616437 OMIM:617839 OMIM:617892 OMIM:617921 OMIM:619133 OMIM:619141 UMLS:C0002736 Autosomal dominant Autosomal recessive Not applicable Adult Canada AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000 Faroe Islands AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 2.4 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 6.4 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 1.57 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 10.8 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.51 AND has_annual_incidence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 1.97 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 1.06 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.46 AND has_annual_incidence_range : 1-9 / 100 000 Uruguay AND has_annual_incidence_average_value : 1.37 AND has_annual_incidence_range : 1-9 / 100 000 Uruguay AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 1.35 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.85 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=803 Amyotrophic lateral sclerosis ORPHA:803 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000690 E (Exact mapping: the two concepts are equivalent) MedDRA:10002026 E (Exact mapping: the two concepts are equivalent) OMIM:105400 E (Exact mapping: the two concepts are equivalent) OMIM:205250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300857 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600795 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606070 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606640 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608031 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608627 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611895 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612069 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612577 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613954 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614808 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615426 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615515 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616208 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616437 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617839 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617892 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617921 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619133 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619141 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0002736 E (Exact mapping: the two concepts are equivalent) Bourneville syndrome Tuberous sclerosis A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders. Orphanet ICD-10:Q85.1 ICD-11:LD2D.2 MeSH:D014402 MedDRA:10045138 OMIM:191100 OMIM:613254 UMLS:C0041341 Autosomal dominant All ages Germany AND has_birth_prevalence_average_value : 5.62 AND has_birth_prevalence_range : 1-9 / 100 000 Hong Kong AND has_point_prevalence_average_value : 3.87 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 5.38 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 1.58 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 4.45 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=805 Tuberous sclerosis complex ORPHA:805 ICD-10:Q85.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD2D.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014402 E (Exact mapping: the two concepts are equivalent) MedDRA:10045138 E (Exact mapping: the two concepts are equivalent) OMIM:191100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613254 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0041341 E (Exact mapping: the two concepts are equivalent) Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. Orphanet ICD-10:D69.8 ICD-11:3B62.Y MeSH:C563120 OMIM:262890 UMLS:C0796149 Autosomal recessive All ages Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=806 Scott syndrome ORPHA:806 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563120 E (Exact mapping: the two concepts are equivalent) OMIM:262890 E (Exact mapping: the two concepts are equivalent) UMLS:C0796149 E (Exact mapping: the two concepts are equivalent) Macrothrombocytopenia with leukocyte inclusions This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease MeSH:C537531 UMLS:C1854520 Sebastian syndrome ORPHA:807 MeSH:C537531 E (Exact mapping: the two concepts are equivalent) UMLS:C1854520 E (Exact mapping: the two concepts are equivalent) A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability. Orphanet ICD-10:Q87.1 ICD-11:LD24.D MeSH:C537533 OMIM:210600 OMIM:606744 OMIM:613676 OMIM:613823 OMIM:614728 OMIM:614851 OMIM:615807 OMIM:616777 OMIM:617523 UMLS:C0265202 Autosomal recessive Antenatal Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=808 Seckel syndrome ORPHA:808 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537533 E (Exact mapping: the two concepts are equivalent) OMIM:210600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606744 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613676 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613823 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614728 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614851 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615807 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616777 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617523 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265202 E (Exact mapping: the two concepts are equivalent) MCTD Sharp syndrome Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA). Orphanet ICD-10:M35.1 ICD-11:4A43.3 MeSH:D008947 MedDRA:10027754 UMLS:C0026272 Multigenic/multifactorial Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=809 Mixed connective tissue disease ORPHA:809 ICD-10:M35.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A43.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008947 E (Exact mapping: the two concepts are equivalent) MedDRA:10027754 E (Exact mapping: the two concepts are equivalent) UMLS:C0026272 E (Exact mapping: the two concepts are equivalent) AS syndrome ASS ASyS Anti-ARS syndrome Anti-Jo1 syndrome Anti-aminoacyl-tRNA synthetase syndrome A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands. Orphanet ICD-10:M35.8 ICD-11:4A43.Y MeSH:C537778 MedDRA:10068801 UMLS:C2609059 Not applicable Adult Elderly Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=81 Antisynthetase syndrome ORPHA:81 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A43.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537778 E (Exact mapping: the two concepts are equivalent) MedDRA:10068801 E (Exact mapping: the two concepts are equivalent) UMLS:C2609059 E (Exact mapping: the two concepts are equivalent) Shigellosis is a bacterial infection leading to dysentery and is caused by <i>Shigella</i>, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: <i>S. dysenteriae</i>, <i>S. flexneri</i>, <i>S. boydii</i> and <i>S. sonnei</i>, all of which cause bacillary dysentery and are strictly limited to human hosts. Orphanet ICD-10:A03.0 ICD-10:A03.1 ICD-10:A03.2 ICD-10:A03.3 ICD-10:A03.8 ICD-10:A03.9 ICD-11:1A02 MedDRA:10054178 UMLS:C0013371 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.78 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 8.18 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 2.08 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 1.38 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 1.68 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 1.82 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 2.54 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 1.12 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 1.12 AND has_annual_incidence_range : 1-9 / 100 000 Luxembourg AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 2.4 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 2.06 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Romania AND has_annual_incidence_average_value : 1.18 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 6.1 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 1.02 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.44 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 3.68 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 3.32 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=810 Shigellosis ORPHA:810 ICD-10:A03.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A03.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A03.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A03.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A03.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A03.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10054178 E (Exact mapping: the two concepts are equivalent) UMLS:C0013371 E (Exact mapping: the two concepts are equivalent) Pancreatic insufficiency and bone marrow dysfunction SDS Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. Orphanet ICD-10:D61.0 ICD-11:3A70.0 MeSH:D000081003 MedDRA:10067940 OMIM:260400 OMIM:617941 UMLS:C0272170 Autosomal recessive Antenatal Childhood Infancy Neonatal Canada AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.59 AND has_birth_prevalence_range : 1-9 / 1 000 000 Puerto rico AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=811 Shwachman-Diamond syndrome ORPHA:811 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000081003 E (Exact mapping: the two concepts are equivalent) MedDRA:10067940 E (Exact mapping: the two concepts are equivalent) OMIM:260400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617941 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0272170 E (Exact mapping: the two concepts are equivalent) Cherry-red spot-myoclonus syndrome Lipomucopolysaccharidosis Normomorphic sialidosis Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. Orphanet ICD-10:E77.1 ICD-11:5C56.21 OMIM:256550 UMLS:C0023806 Autosomal recessive Adolescent Childhood Europe AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=812 Sialidosis type 1 ORPHA:812 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:256550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0023806 E (Exact mapping: the two concepts are equivalent) Silver-Russell dwarfism A rare imprinting disorder, characterized by fetal growth restriction with no catch-up associated with feeding anomalies and dysmorphic features Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:D056730 MedDRA:10062282 OMIM:180860 OMIM:312780 OMIM:616489 UMLS:C0175693 Autosomal dominant Not applicable Antenatal Neonatal Europe AND has_annual_incidence_average_value : 15.5 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=813 Silver-Russell syndrome ORPHA:813 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D056730 E (Exact mapping: the two concepts are equivalent) MedDRA:10062282 E (Exact mapping: the two concepts are equivalent) OMIM:180860 E (Exact mapping: the two concepts are equivalent) OMIM:312780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616489 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0175693 E (Exact mapping: the two concepts are equivalent) Fatty acid alcohol oxidoreductase deficiency A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. Orphanet ICD-10:Q87.1 ICD-11:5C52.03 MeSH:D016111 MedDRA:10048676 OMIM:270200 UMLS:C0037231 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=816 Sjögren-Larsson syndrome ORPHA:816 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5C52.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016111 E (Exact mapping: the two concepts are equivalent) MedDRA:10048676 E (Exact mapping: the two concepts are equivalent) OMIM:270200 E (Exact mapping: the two concepts are equivalent) UMLS:C0037231 E (Exact mapping: the two concepts are equivalent) Deciduous skin Familial continuous skin peeling syndrome Idiopathic deciduous skin Keratosis exfoliativa congenita PSS Peeling skin disease A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Orphanet ICD-11:EC20.1 MeSH:C564818 UMLS:C1849193 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=817 Peeling skin syndrome Clinical group ORPHA:817 ICD-11:EC20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C564818 E (Exact mapping: the two concepts are equivalent) UMLS:C1849193 E (Exact mapping: the two concepts are equivalent) 7-dehydrocholesterol reductase deficiency RSH syndrome SLOS Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. Orphanet ICD-10:Q87.1 ICD-11:5C52.10 MeSH:D019082 MedDRA:10078573 OMIM:270400 UMLS:C0175694 Autosomal recessive Infancy Neonatal Canada AND has_birth_prevalence_average_value : 2.6 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_annual_incidence_average_value : 1.4314 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_birth_prevalence_average_value : 5.85 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.65 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=818 Smith-Lemli-Opitz syndrome ORPHA:818 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C52.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019082 E (Exact mapping: the two concepts are equivalent) MedDRA:10078573 E (Exact mapping: the two concepts are equivalent) OMIM:270400 E (Exact mapping: the two concepts are equivalent) UMLS:C0175694 E (Exact mapping: the two concepts are equivalent) 17p11.2 microdeletion syndrome A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). Orphanet ICD-10:Q93.5 ICD-11:LD44.H1 MeSH:D058496 MedDRA:10081680 OMIM:182290 UMLS:C0795864 Autosomal dominant Adolescent Adult Childhood Infancy Neonatal Europe AND has_point_prevalence_average_value : 5.35 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 5.35 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=819 Smith-Magenis syndrome ORPHA:819 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.H1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058496 E (Exact mapping: the two concepts are equivalent) MedDRA:10081680 E (Exact mapping: the two concepts are equivalent) OMIM:182290 E (Exact mapping: the two concepts are equivalent) UMLS:C0795864 E (Exact mapping: the two concepts are equivalent) Hereditary thrombophilia due to congenital antithrombin 3 deficiency Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins). Orphanet ICD-10:D68.5 ICD-11:3B61.0Y OMIM:613118 UMLS:C5679844 Autosomal dominant Adolescent Adult Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=82 Hereditary thrombophilia due to congenital antithrombin deficiency ORPHA:82 ICD-10:D68.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3B61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613118 E (Exact mapping: the two concepts are equivalent) UMLS:C5679844 E (Exact mapping: the two concepts are equivalent) Ehrmann-Sneddon syndrome Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis-cerebrovascular accident syndrome Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. Orphanet ICD-10:I77.8 ICD-11:4A44.6 MeSH:D018860 MedDRA:10053841 OMIM:182410 UMLS:C0282492 Autosomal dominant Not applicable Adult Europe AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=820 Sneddon syndrome ORPHA:820 ICD-10:I77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018860 E (Exact mapping: the two concepts are equivalent) MedDRA:10053841 E (Exact mapping: the two concepts are equivalent) OMIM:182410 E (Exact mapping: the two concepts are equivalent) UMLS:C0282492 E (Exact mapping: the two concepts are equivalent) EDS with periventricular heterotopia Filamin A-related EDS with periventricular nodular heterotopia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Periventricular nodular heterotopia UMLS:C1845235 Ehlers-Danlos syndrome with periventricular heterotopia ORPHA:82004 UMLS:C1845235 E (Exact mapping: the two concepts are equivalent) Cerebral gigantism A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment. Orphanet ICD-10:Q87.3 ICD-11:LD2C MeSH:D058495 MedDRA:10064387 OMIM:117550 OMIM:617169 UMLS:C0175695 Autosomal dominant Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=821 Sotos syndrome ORPHA:821 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058495 E (Exact mapping: the two concepts are equivalent) MedDRA:10064387 E (Exact mapping: the two concepts are equivalent) OMIM:117550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617169 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0175695 E (Exact mapping: the two concepts are equivalent) Minkowski-Chauffard disease Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. Orphanet ICD-10:D58.0 ICD-11:3A10.Y MeSH:D013103 MedDRA:10019904 OMIM:182900 OMIM:270970 OMIM:612653 OMIM:612690 OMIM:616649 UMLS:C0037889 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 50.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=822 Hereditary spherocytosis ORPHA:822 ICD-10:D58.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013103 E (Exact mapping: the two concepts are equivalent) MedDRA:10019904 E (Exact mapping: the two concepts are equivalent) OMIM:182900 E (Exact mapping: the two concepts are equivalent) OMIM:270970 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612653 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612690 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616649 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0037889 E (Exact mapping: the two concepts are equivalent) Isolated spina bifida Isolated spinal dysraphism A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development that is usually not associated with other major congenital malformations but may include ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic. Orphanet ICD-11:LA02 MeSH:D016135 MedDRA:10041524 OMIM:182940 OMIM:301410 OMIM:601634 UMLS:C5680973 Multigenic/multifactorial Not applicable Infancy Neonatal Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 21.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 18.6 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 19.6 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 50.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 17.8 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 14.4 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 50.6 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 12.7 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 14.7 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 24.4 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 41.3 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 13.1 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 24.8 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=823 Spina bifida and other spinal dysraphisms Category ORPHA:823 ICD-11:LA02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016135 E (Exact mapping: the two concepts are equivalent) MedDRA:10041524 E (Exact mapping: the two concepts are equivalent) OMIM:182940 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301410 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601634 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680973 E (Exact mapping: the two concepts are equivalent) Agnogenic myeloid metaplasia Idiopathic myelofibrosis Myelofibrosis with myeloid metaplasia Osteomyelofibrosis A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression. Orphanet ICD-10:D47.4 ICD-11:2A20.2 MeSH:D055728 MedDRA:10077161 OMIM:254450 UMLS:C0001815 Not applicable Adult Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=824 Primary myelofibrosis ORPHA:824 ICD-10:D47.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A20.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D055728 E (Exact mapping: the two concepts are equivalent) MedDRA:10077161 E (Exact mapping: the two concepts are equivalent) OMIM:254450 E (Exact mapping: the two concepts are equivalent) UMLS:C0001815 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Ankylosing spondylarthritis NON RARE IN EUROPE: Bechterew syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:M45 NON RARE IN EUROPE: Ankylosing spondylitis ORPHA:825 ICD-10:M45 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Sporotrichosis is an infection caused by the dimorphic fungus <i>Sporothrix schenckii</i>, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression. Orphanet ICD-10:B42.0 ICD-10:B42.1 ICD-10:B42.7 ICD-10:B42.8 ICD-10:B42.9 ICD-11:1F2J ICD-11:1F2J.0 ICD-11:1F2J.1 ICD-11:1F2J.2 ICD-11:1F2J.3 ICD-11:1F2J.Y MeSH:D013174 MedDRA:10041736 UMLS:C0038034 Not applicable All ages Mexico AND has_point_prevalence_average_value : 2500.0 AND has_point_prevalence_range : >1 / 1000 Peru AND has_annual_incidence_average_value : 54.0 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=826 Sporotrichosis ORPHA:826 ICD-10:B42.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B42.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B42.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B42.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B42.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2J - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2J.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2J.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2J.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2J.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F2J.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013174 E (Exact mapping: the two concepts are equivalent) MedDRA:10041736 E (Exact mapping: the two concepts are equivalent) UMLS:C0038034 E (Exact mapping: the two concepts are equivalent) Fundus flavimaculatus Stargardt 1 A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:D000080362 MedDRA:10062766 OMIM:248200 OMIM:600110 OMIM:603786 UMLS:C0271093 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=827 Stargardt disease ORPHA:827 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000080362 E (Exact mapping: the two concepts are equivalent) MedDRA:10062766 E (Exact mapping: the two concepts are equivalent) OMIM:248200 E (Exact mapping: the two concepts are equivalent) OMIM:600110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603786 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0271093 E (Exact mapping: the two concepts are equivalent) Hereditary progressive arthroophthalmopathy A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of &#64257;bers throughout the vitreous cavity. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MedDRA:10063402 OMIM:108300 OMIM:604841 OMIM:609508 OMIM:614134 OMIM:614284 UMLS:C0265253 Autosomal dominant Autosomal recessive Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 12.2 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=828 Stickler syndrome ORPHA:828 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10063402 E (Exact mapping: the two concepts are equivalent) OMIM:108300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604841 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609508 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614134 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614284 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265253 E (Exact mapping: the two concepts are equivalent) AOSD Wissler-Fanconi syndrome A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. Orphanet ICD-10:M06.1 ICD-11:FA23 MeSH:D016706 MedDRA:10064056 UMLS:C0085253 Not applicable Adult Elderly Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.13 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 3.9 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 6.9 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 Turkey AND has_point_prevalence_average_value : 6.77 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=829 Adult-onset Still disease ORPHA:829 ICD-10:M06.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FA23 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016706 E (Exact mapping: the two concepts are equivalent) MedDRA:10064056 E (Exact mapping: the two concepts are equivalent) UMLS:C0085253 E (Exact mapping: the two concepts are equivalent) A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. Orphanet ICD-10:Q87.8 ICD-11:LD24.GY MeSH:D054882 MedDRA:10083864 OMIM:207410 UMLS:C5234850 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83 Antley-Bixler syndrome ORPHA:83 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054882 E (Exact mapping: the two concepts are equivalent) MedDRA:10083864 E (Exact mapping: the two concepts are equivalent) OMIM:207410 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5234850 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Stuccokeratosis ORPHA:830 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83001 Urogenital tract malformation Category ORPHA:83001 Congenital narrowing of cervical spinal canal Congenital stenosis of the cervical spine Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. Orphanet ICD-10:Q06.8 UMLS:C4749275 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=831 Congenital cervical spinal stenosis ORPHA:831 ICD-10:Q06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749275 E (Exact mapping: the two concepts are equivalent) OXCT1 deficiency SCOT deficiency Succinyl-CoA acetoacetate transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. Orphanet ICD-10:E71.3 ICD-11:5C52.02 MeSH:C537527 OMIM:245050 UMLS:C0342792 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 32.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=832 Succinyl-CoA:3-oxoacid CoA transferase deficiency ORPHA:832 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537527 E (Exact mapping: the two concepts are equivalent) OMIM:245050 E (Exact mapping: the two concepts are equivalent) UMLS:C0342792 E (Exact mapping: the two concepts are equivalent) Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Orphanet ICD-10:E72.1 ICD-11:5C50.B OMIM:252150 OMIM:252160 OMIM:272300 OMIM:615501 UMLS:C4275019 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=833 Encephalopathy due to sulfite oxidase deficiency ORPHA:833 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:252150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252160 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:272300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615501 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4275019 E (Exact mapping: the two concepts are equivalent) A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria <i>Rickettsia rickettsii</i> characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. Additonal variable features may include conjunctivitis, mucosal ulcers, post-inflammatory hyperpigmentation, jaundice, pneumonia, hepatomegaly, renal failure, meningismus, amnesia, optic disc edema, and ocular arterial occlusion. Orphanet ICD-10:A77.0 ICD-11:1C31.0 MeSH:D012373 MedDRA:10039207 UMLS:C0035793 Not applicable All ages United States AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83311 Rocky Mountain spotted fever ORPHA:83311 ICD-10:A77.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C31.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012373 E (Exact mapping: the two concepts are equivalent) MedDRA:10039207 E (Exact mapping: the two concepts are equivalent) UMLS:C0035793 E (Exact mapping: the two concepts are equivalent) A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria <i>Rickettsia akari</i> characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symptoms resolve within 6-10 days. Orphanet ICD-10:A79.1 ICD-11:1C32 MeSH:D000073605 MedDRA:10039137 UMLS:C0035597 Not applicable All ages Worldwide AND has_cases/families_value : 800.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83312 Rickettsialpox ORPHA:83312 ICD-10:A79.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C32 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000073605 E (Exact mapping: the two concepts are equivalent) MedDRA:10039137 E (Exact mapping: the two concepts are equivalent) UMLS:C0035597 E (Exact mapping: the two concepts are equivalent) Mediterranean spotted fever A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium <i>Rickettsia conorii</i>, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India. Orphanet ICD-10:A77.1 ICD-11:1C31.1 MeSH:D001907 MedDRA:10006045 UMLS:C0006060 Not applicable All ages Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 24.2 AND has_point_prevalence_range : 1-5 / 10 000 Portugal AND has_point_prevalence_average_value : 9.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83313 Boutonneuse fever ORPHA:83313 ICD-10:A77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1C31.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001907 E (Exact mapping: the two concepts are equivalent) MedDRA:10006045 E (Exact mapping: the two concepts are equivalent) UMLS:C0006060 E (Exact mapping: the two concepts are equivalent) A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss. Orphanet ICD-10:A75.0 ICD-11:1C30.0 MeSH:D014438 MedDRA:10014979 UMLS:C0041473 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83314 Epidemic typhus ORPHA:83314 ICD-10:A75.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C30.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014438 E (Exact mapping: the two concepts are equivalent) MedDRA:10014979 E (Exact mapping: the two concepts are equivalent) UMLS:C0041473 E (Exact mapping: the two concepts are equivalent) Endemic typhus Flea-borne typhus A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common. Orphanet ICD-10:A75.2 ICD-11:1C30.2 MeSH:D014437 MedDRA:10028282 UMLS:C0041472 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83315 Murine typhus ORPHA:83315 ICD-10:A75.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C30.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014437 E (Exact mapping: the two concepts are equivalent) MedDRA:10028282 E (Exact mapping: the two concepts are equivalent) UMLS:C0041472 E (Exact mapping: the two concepts are equivalent) Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a <i>Rickettsia felis </i> infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise. Orphanet ICD-10:A79.8 UMLS:C4706680 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83316 Pseudotyphus of California ORPHA:83316 ICD-10:A79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706680 E (Exact mapping: the two concepts are equivalent) Tsutsugamushi disease Tsutsugamushi fever Scrub typhus is a rare dust mite-borne infectious disease caused by the <i>Orientia tsutsugamushi</i> bacterium and characterized clinically by an eruptive fever which is potentially serious. Orphanet ICD-10:A75.3 ICD-11:1C30.3 MeSH:D012612 MedDRA:10039766 UMLS:C0036472 All ages Japan AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 7.2 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83317 Scrub typhus ORPHA:83317 ICD-10:A75.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C30.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012612 E (Exact mapping: the two concepts are equivalent) MedDRA:10039766 E (Exact mapping: the two concepts are equivalent) UMLS:C0036472 E (Exact mapping: the two concepts are equivalent) Infantile spinal muscular atrophy Infantile-onset spinal muscular atrophy SMA type 1 SMA type I SMA-I SMA1 Werdnig-Hoffmann disease A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support. Orphanet ICD-10:G12.0 ICD-11:8B61.0 OMIM:253300 UMLS:C0043116 Autosomal recessive Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83330 Proximal spinal muscular atrophy type 1 Clinical subtype ORPHA:83330 ICD-10:G12.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:253300 E (Exact mapping: the two concepts are equivalent) UMLS:C0043116 E (Exact mapping: the two concepts are equivalent) FSASD Free sialic acid storage disorder A rare lysosomal storage disease characterized by a spectrum of clinical manifestations including neurological and developmental disorders with a severity ranging from the milder form, also called Salla disease (SD), to the most severe phenotype, also called infantile free sialic acid storage disease (ISSD). Orphanet ICD-10:E77.8 ICD-11:5C56.4 MeSH:C538523 OMIM:269920 OMIM:604369 UMLS:C2931872 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 130.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=834 Free sialic acid storage disease ORPHA:834 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538523 E (Exact mapping: the two concepts are equivalent) OMIM:269920 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604369 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931872 E (Exact mapping: the two concepts are equivalent) Intermediate spinal muscular atrophy SMA type 2 SMA type II SMA-II SMA2 A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing. Orphanet ICD-10:G12.1 ICD-11:8B61.1 OMIM:253550 UMLS:C0393538 Autosomal recessive Infancy Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.0322 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83418 Proximal spinal muscular atrophy type 2 Clinical subtype ORPHA:83418 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B61.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:253550 E (Exact mapping: the two concepts are equivalent) UMLS:C0393538 E (Exact mapping: the two concepts are equivalent) Juvenile spinal muscular atrophy Kugelberg-Welander disease SMA type 3 SMA type III SMA-III SMA3 A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired. Orphanet ICD-10:G12.1 ICD-11:8B61.2 OMIM:253400 UMLS:C0152109 Autosomal recessive Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 0.61 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.6623 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83419 Proximal spinal muscular atrophy type 3 Clinical subtype ORPHA:83419 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B61.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:253400 E (Exact mapping: the two concepts are equivalent) UMLS:C0152109 E (Exact mapping: the two concepts are equivalent) SMA type 4 SMA type IV SMA-IV SMA4 Spinal muscular atrophy, adult form A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with adult onset, slowly progressive, mild proximal muscle weakness. Orphanet ICD-10:G12.1 ICD-11:8B61.3 MeSH:C563948 OMIM:271150 UMLS:C1838230 Autosomal recessive Adult Europe AND has_annual_incidence_range : Unknown Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83420 Proximal spinal muscular atrophy type 4 Clinical subtype ORPHA:83420 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B61.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C563948 E (Exact mapping: the two concepts are equivalent) OMIM:271150 E (Exact mapping: the two concepts are equivalent) UMLS:C1838230 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: SIADH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome ORPHA:83449 Ghost teeth A rare orodental disease characterized by localized developmental anomaly of the dental tissues, with enamel and dentin hypomineralization affecting one (odontodysplasia) or several (regional odontodysplasia; ROD) teeth (deciduous and permanent, with teeth of the maxilla more frequently involved). Orphanet ICD-10:K00.4 ICD-11:DA07.3 UMLS:C0206554 Not applicable Childhood Worldwide AND has_cases/families_value : 140.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83450 Regional odontodysplasia ORPHA:83450 ICD-10:K00.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DA07.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0206554 E (Exact mapping: the two concepts are equivalent) Florid osseous dysplasia Focal cemento-osseous dysplasia Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw. Orphanet ICD-10:D16.4 ICD-10:D16.5 ICD-11:DA07.3 MeSH:C537063 UMLS:C0555197 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83451 Florid cemento-osseous dysplasia ORPHA:83451 ICD-10:D16.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:D16.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:DA07.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537063 E (Exact mapping: the two concepts are equivalent) UMLS:C0555197 E (Exact mapping: the two concepts are equivalent) Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. Orphanet ICD-10:G90.5 ICD-10:G90.6 ICD-11:MG30.04 MeSH:D020918 MedDRA:10064332 OMIM:604335 UMLS:C0458219 Not applicable All ages Netherlands AND has_annual_incidence_average_value : 26.2 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83452 Complex regional pain syndrome ORPHA:83452 ICD-10:G90.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G90.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MG30.04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020918 E (Exact mapping: the two concepts are equivalent) MedDRA:10064332 E (Exact mapping: the two concepts are equivalent) OMIM:604335 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0458219 E (Exact mapping: the two concepts are equivalent) A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge. Orphanet ICD-10:L43.8 ICD-11:EA91.3 UMLS:C3873472 Not applicable Adult Worldwide AND has_cases/families_value : 380.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83453 Vulvovaginal gingival syndrome ORPHA:83453 ICD-10:L43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EA91.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3873472 E (Exact mapping: the two concepts are equivalent) Glomangiomatosis Hereditary multiple glomangiomas Multiple glomus tumors VMGLOM Venous malformations with glomus cells A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin. Orphanet ICD-10:Q27.8 ICD-11:LC51 MeSH:C536827 MedDRA:10018381 OMIM:138000 UMLS:C1841984 Autosomal dominant Adolescent Adult Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83454 Glomuvenous malformation ORPHA:83454 ICD-10:Q27.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536827 E (Exact mapping: the two concepts are equivalent) MedDRA:10018381 E (Exact mapping: the two concepts are equivalent) OMIM:138000 E (Exact mapping: the two concepts are equivalent) UMLS:C1841984 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects. Orphanet ICD-10:Q12.3 ICD-11:LA12.2 MeSH:C537786 MedDRA:10002947 OMIM:610256 UMLS:C1853230 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83461 Congenital primary aphakia ORPHA:83461 ICD-10:Q12.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA12.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537786 E (Exact mapping: the two concepts are equivalent) MedDRA:10002947 E (Exact mapping: the two concepts are equivalent) OMIM:610256 E (Exact mapping: the two concepts are equivalent) UMLS:C1853230 E (Exact mapping: the two concepts are equivalent) A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. Orphanet ICD-10:Q17.2 ICD-11:LA22.0 MeSH:D065817 MedDRA:10027555 OMIM:128800 OMIM:600674 UMLS:C0152423 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Chile AND has_birth_prevalence_average_value : 83.0 AND has_birth_prevalence_range : 6-9 / 10 000 Ecuador AND has_birth_prevalence_average_value : 174.0 AND has_birth_prevalence_range : >1 / 1000 Europe AND has_birth_prevalence_average_value : 13.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_average_value : 43.4 AND has_birth_prevalence_range : 1-5 / 10 000 Finland AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 38.0 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 2.1 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 15.5 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83463 Microtia ORPHA:83463 ICD-10:Q17.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA22.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D065817 E (Exact mapping: the two concepts are equivalent) MedDRA:10027555 E (Exact mapping: the two concepts are equivalent) OMIM:128800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600674 E (Exact mapping: the two concepts are equivalent) UMLS:C0152423 E (Exact mapping: the two concepts are equivalent) Narcolepsy without cataplexy A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations. Orphanet ICD-10:G47.4 ICD-11:7A20.1 UMLS:C1456240 Unknown Adolescent Adult Childhood United States AND has_point_prevalence_average_value : 20.3 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83465 Narcolepsy type 2 ORPHA:83465 ICD-10:G47.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:7A20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1456240 E (Exact mapping: the two concepts are equivalent) Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Morvan fibrillary chorea Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. Orphanet ICD-10:G60.8 ICD-11:8E4A.3 MedDRA:10075006 UMLS:C3854373 Adult Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83467 Morvan syndrome ORPHA:83467 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8E4A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10075006 E (Exact mapping: the two concepts are equivalent) UMLS:C3854373 E (Exact mapping: the two concepts are equivalent) Unicameral bone cyst A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported. Orphanet ICD-10:M85.4 ICD-11:FB80.5 UMLS:C0005937 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83468 Solitary bone cyst ORPHA:83468 ICD-10:M85.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB80.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0005937 E (Exact mapping: the two concepts are equivalent) DSRCT An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. Orphanet ICD-10:C48.2 MeSH:D058405 MedDRA:10064581 UMLS:C0281508 Not applicable Adolescent Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83469 Desmoplastic small round cell tumor ORPHA:83469 ICD-10:C48.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D058405 E (Exact mapping: the two concepts are equivalent) MedDRA:10064581 E (Exact mapping: the two concepts are equivalent) UMLS:C0281508 E (Exact mapping: the two concepts are equivalent) Isolated aplasia/hypoplasia of the thymus Isolated congenital athymia Isolated congenital thymic aplasia/hypoplasia Isolated thymic defect due to thymic aplasia/hypoplasia Nezelof syndrome A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive. Orphanet ICD-10:D81.4 MeSH:C536288 OMIM:242700 UMLS:C0152094 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83471 T-cell immunodeficiency with thymic aplasia ORPHA:83471 ICD-10:D81.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536288 E (Exact mapping: the two concepts are equivalent) OMIM:242700 E (Exact mapping: the two concepts are equivalent) UMLS:C0152094 E (Exact mapping: the two concepts are equivalent) Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome SCAR5 A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Orphanet ICD-10:G11.1 OMIM:606937 UMLS:C4511633 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83472 CAMOS syndrome ORPHA:83472 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:606937 E (Exact mapping: the two concepts are equivalent) UMLS:C4511633 E (Exact mapping: the two concepts are equivalent) MPPH syndrome A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. Orphanet ICD-10:Q04.8 OMIM:603387 OMIM:615937 OMIM:615938 UMLS:C4302893 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 62.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:603387 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615937 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615938 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4302893 E (Exact mapping: the two concepts are equivalent) West-Nile fever An acute arboviral infection caused by a virus of the <i>Flaviviridae</i> family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. Orphanet ICD-10:A92.3 ICD-11:1C80 MeSH:D014901 OMIM:610379 UMLS:C0751583 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.16 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83476 West-Nile encephalitis ORPHA:83476 ICD-10:A92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014901 E (Exact mapping: the two concepts are equivalent) OMIM:610379 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751583 E (Exact mapping: the two concepts are equivalent) Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by <i>Mycoplasma pneumoniae</i>. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis). Orphanet ICD-10:B96.0 UMLS:C4707240 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83482 Mycoplasma encephalitis ORPHA:83482 ICD-10:B96.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707240 E (Exact mapping: the two concepts are equivalent) Californian encephalitis An acute arboviral infection caused by the <i>La Crosse bunyavirus</i> transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits. Orphanet ICD-10:A83.5 ICD-11:1C8D MeSH:D004670 MedDRA:10014584 UMLS:C0276379 Not applicable All ages Canada AND has_annual_incidence_average_value : 1.91 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83483 La Crosse encephalitis ORPHA:83483 ICD-10:A83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C8D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004670 E (Exact mapping: the two concepts are equivalent) MedDRA:10014584 E (Exact mapping: the two concepts are equivalent) UMLS:C0276379 E (Exact mapping: the two concepts are equivalent) Saint Louis encephalitis An acute arboviral infection caused by a virus of the <i>Flaviviridae</i> family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur. Orphanet ICD-10:A83.3 ICD-11:1C86 MeSH:D004674 MedDRA:10041896 UMLS:C0014060 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83484 St. Louis encephalitis ORPHA:83484 ICD-10:A83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C86 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004674 E (Exact mapping: the two concepts are equivalent) MedDRA:10041896 E (Exact mapping: the two concepts are equivalent) UMLS:C0014060 E (Exact mapping: the two concepts are equivalent) Western equine encephalomyelitis An acute arboviral infection caused by an <i>alphavirus</i> of the <i>Togaviridae</i> family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. Orphanet ICD-10:A83.1 ICD-11:1C83 MeSH:D020241 MedDRA:10014614 UMLS:C0153064 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83593 Western equine encephalitis ORPHA:83593 ICD-10:A83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C83 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020241 E (Exact mapping: the two concepts are equivalent) MedDRA:10014614 E (Exact mapping: the two concepts are equivalent) UMLS:C0153064 E (Exact mapping: the two concepts are equivalent) Eastern equine encephalomyelitis An acute arboviral infection caused by an <i>alphavirus</i> of the <i>Togaviridae</i> family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. Orphanet ICD-10:A83.2 ICD-11:1C84 MeSH:D020242 MedDRA:10014587 UMLS:C0153065 Not applicable All ages United States AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83594 Eastern equine encephalitis ORPHA:83594 ICD-10:A83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C84 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020242 E (Exact mapping: the two concepts are equivalent) MedDRA:10014587 E (Exact mapping: the two concepts are equivalent) UMLS:C0153065 E (Exact mapping: the two concepts are equivalent) American mountain fever Colorado tick encephalitis Colorado tick-borne disease Mountain fever Mountain tick fever An acute arboviral infection caused by a <i>Coltivirus</i> transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur. Orphanet ICD-10:A93.2 ICD-11:1D41 MeSH:D003121 MedDRA:10010022 UMLS:C0009400 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83595 Colorado tick fever ORPHA:83595 ICD-10:A93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003121 E (Exact mapping: the two concepts are equivalent) MedDRA:10010022 E (Exact mapping: the two concepts are equivalent) UMLS:C0009400 E (Exact mapping: the two concepts are equivalent) ADEM Acute disseminated encephalitis A demyelinating disorder of the central nervous system. Orphanet ICD-10:G04.0 ICD-11:8A42 MeSH:D004673 MedDRA:10000709 UMLS:C0014059 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83597 Acute disseminated encephalomyelitis ORPHA:83597 ICD-10:G04.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004673 E (Exact mapping: the two concepts are equivalent) MedDRA:10000709 E (Exact mapping: the two concepts are equivalent) UMLS:C0014059 E (Exact mapping: the two concepts are equivalent) Von Economo encephalitis A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism. Orphanet ICD-10:A85.8 ICD-11:1C80 MedDRA:10052369 UMLS:C0014040 Not applicable Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83600 Encephalitis lethargica ORPHA:83600 ICD-10:A85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10052369 E (Exact mapping: the two concepts are equivalent) UMLS:C0014040 E (Exact mapping: the two concepts are equivalent) Hashimoto encephalitis SREAT Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations. Orphanet ICD-10:G04.8 ICD-11:8E4A.0 MeSH:C535841 MedDRA:10069432 UMLS:C0393639 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis ORPHA:83601 ICD-10:G04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E4A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535841 E (Exact mapping: the two concepts are equivalent) MedDRA:10069432 E (Exact mapping: the two concepts are equivalent) UMLS:C0393639 E (Exact mapping: the two concepts are equivalent) A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient. Orphanet ICD-10:B06.0+ ICD-10:G05.1* UMLS:C0238099 Not applicable Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83616 Rubella panencephalitis ORPHA:83616 ICD-10:B06.0+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G05.1* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0238099 E (Exact mapping: the two concepts are equivalent) A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Orphanet ICD-10:Q87.0 ICD-11:4A01.00 OMIM:610483 UMLS:C4302680 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610483 E (Exact mapping: the two concepts are equivalent) UMLS:C4302680 E (Exact mapping: the two concepts are equivalent) Severe dilated cardiomyopathy with or without myopathy This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Severe dilated cardiomyopathy due to lamin A/C mutation ORPHA:83618 A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. Orphanet ICD-10:Q87.0 UMLS:C4509840 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome ORPHA:83619 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509840 E (Exact mapping: the two concepts are equivalent) Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported. Orphanet ICD-10:P78.3 ICD-11:DA90.Y MeSH:C563673 OMIM:610370 UMLS:C1835888 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83620 Enteric anendocrinosis ORPHA:83620 ICD-10:P78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563673 E (Exact mapping: the two concepts are equivalent) OMIM:610370 E (Exact mapping: the two concepts are equivalent) UMLS:C1835888 E (Exact mapping: the two concepts are equivalent) Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome PELVIS syndrome Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome SACRAL syndrome A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MedDRA:10082949 UMLS:C4510867 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 54.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83628 LUMBAR syndrome ORPHA:83628 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10082949 E (Exact mapping: the two concepts are equivalent) UMLS:C4510867 E (Exact mapping: the two concepts are equivalent) H-SMD Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-SEMD syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Orphanet ICD-10:G37.8 OMIM:300232 UMLS:C4304743 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629 ICD-10:G37.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300232 E (Exact mapping: the two concepts are equivalent) UMLS:C4304743 E (Exact mapping: the two concepts are equivalent) Congenital disorder of glycosylation due to PIGM deficiency PIGM-CDG A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy. Orphanet ICD-10:E88.8 ICD-11:3B61.0Y OMIM:610293 UMLS:C4510605 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B61.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610293 E (Exact mapping: the two concepts are equivalent) UMLS:C4510605 E (Exact mapping: the two concepts are equivalent) A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. Orphanet ICD-10:D50.8 ICD-11:3A00.Y MeSH:C567144 OMIM:206100 UMLS:C2673913 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83642 Microcytic anemia with liver iron overload ORPHA:83642 ICD-10:D50.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567144 E (Exact mapping: the two concepts are equivalent) OMIM:206100 E (Exact mapping: the two concepts are equivalent) UMLS:C2673913 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies-hypotonia-seizures syndrome type 2 OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome ORPHA:83648 Retinocochleocerebral vasculopathy A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear. Orphanet ICD-10:I67.7 ICD-11:8A45.2Y MeSH:D055955 MedDRA:10071573 UMLS:C2717757 Unknown All ages Worldwide AND has_cases/families_value : 304.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=838 Susac syndrome ORPHA:838 ICD-10:I67.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A45.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D055955 E (Exact mapping: the two concepts are equivalent) MedDRA:10071573 E (Exact mapping: the two concepts are equivalent) UMLS:C2717757 E (Exact mapping: the two concepts are equivalent) Finnish congenital nephrosis A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting <i>in utero</i> or during the first 3 months of life. Orphanet ICD-10:N04.8 ICD-11:GB4Z MeSH:C535761 MedDRA:10060740 OMIM:256300 UMLS:C0403399 Autosomal recessive Antenatal Infancy Neonatal Finland AND has_birth_prevalence_average_value : 12.2 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=839 Congenital nephrotic syndrome, Finnish type ORPHA:839 ICD-10:N04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB4Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535761 E (Exact mapping: the two concepts are equivalent) MedDRA:10060740 E (Exact mapping: the two concepts are equivalent) OMIM:256300 E (Exact mapping: the two concepts are equivalent) UMLS:C0403399 E (Exact mapping: the two concepts are equivalent) Fanconi pancytopenia A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. Orphanet ICD-10:D61.0 ICD-11:3A70.0 MeSH:D005199 MedDRA:10055206 OMIM:227645 OMIM:227646 OMIM:227650 OMIM:300514 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:609054 OMIM:610832 OMIM:613390 OMIM:613951 OMIM:614082 OMIM:614083 OMIM:615272 OMIM:616435 OMIM:617243 OMIM:617244 OMIM:617247 OMIM:617883 UMLS:C0015625 Autosomal recessive X-linked recessive Childhood China AND has_point_prevalence_average_value : 0.111 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84 Fanconi anemia ORPHA:84 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005199 E (Exact mapping: the two concepts are equivalent) MedDRA:10055206 E (Exact mapping: the two concepts are equivalent) OMIM:227645 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:227646 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:227650 E (Exact mapping: the two concepts are equivalent) OMIM:300514 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600901 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603467 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609053 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609054 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610832 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613390 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613951 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614082 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614083 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615272 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617243 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617244 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617247 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617883 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0015625 E (Exact mapping: the two concepts are equivalent) Fistulous vegetative verrucous hydradenoma Naevus syringocystadenomatosus papilliferus Papillary syringocystadenoma SCAP Syringadenoma papilliferum A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area. Orphanet ICD-10:D23.9 ICD-11:LC0Y MedDRA:10042926 UMLS:C0406803 Unknown Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 730.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=840 Syringocystadenoma papilliferum ORPHA:840 ICD-10:D23.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LC0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10042926 E (Exact mapping: the two concepts are equivalent) UMLS:C0406803 E (Exact mapping: the two concepts are equivalent) Phenotypic diarrhea SD/THE Syndromic diarrhea/Tricho-hepato-enteric syndrome Tricho-hepato-enteric syndrome Trichohepatoenteric syndrome A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. Orphanet ICD-10:K52.8 ICD-11:DA90.0 MeSH:C565627 OMIM:222470 OMIM:614602 UMLS:C1857276 Autosomal recessive Antenatal Infancy Neonatal France AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 116.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84064 Syndromic diarrhea ORPHA:84064 ICD-10:K52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C565627 E (Exact mapping: the two concepts are equivalent) OMIM:222470 E (Exact mapping: the two concepts are equivalent) OMIM:614602 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1857276 E (Exact mapping: the two concepts are equivalent) Idiopathic bile acid malabsorption A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea. Orphanet ICD-10:K90.8 ICD-11:DA96.02 UMLS:C4274509 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84065 Idiopathic malabsorption due to bile acid synthesis defects ORPHA:84065 ICD-10:K90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA96.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274509 E (Exact mapping: the two concepts are equivalent) Boichis disease Nephronophthisis-hepatic fibrosis syndrome A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients. Orphanet ICD-10:Q61.8 ICD-11:GB8Y OMIM:613550 OMIM:616217 UMLS:C4274018 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84081 Senior-Boichis syndrome ORPHA:84081 ICD-10:Q61.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616217 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274018 E (Exact mapping: the two concepts are equivalent) HAS HS Hinman-Allen syndrome Non-neurogenic neurogenic bladder Occult neuropathic bladder Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. Orphanet ICD-10:N32.8 ICD-11:GC01.Y UMLS:C1997362 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84085 Hinman syndrome ORPHA:84085 ICD-10:N32.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GC01.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1997362 E (Exact mapping: the two concepts are equivalent) Collagenofibrotic glomerulopathy A rare non-immune-mediated glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. Progression to end-stage kidney failure is possible. Orphanet ICD-10:N07.6 UMLS:C3872695 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84087 Collagen type III glomerulopathy ORPHA:84087 ICD-10:N07.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3872695 E (Exact mapping: the two concepts are equivalent) GFND Glomerulopathy with fibronectin deposits A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Orphanet ICD-10:N07.6 ICD-11:MF81 MeSH:C536826 OMIM:137950 OMIM:601894 UMLS:C3888104 Autosomal dominant All ages Worldwide AND has_cases/families_value : 16.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84090 Fibronectin glomerulopathy ORPHA:84090 ICD-10:N07.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536826 E (Exact mapping: the two concepts are equivalent) OMIM:137950 E (Exact mapping: the two concepts are equivalent) OMIM:601894 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3888104 E (Exact mapping: the two concepts are equivalent) Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. Orphanet ICD-10:G60.0 ICD-11:8C20.Y MeSH:C566575 OMIM:602107 UMLS:C1865856 Adolescent Adult Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84093 Hereditary thermosensitive neuropathy ORPHA:84093 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566575 E (Exact mapping: the two concepts are equivalent) OMIM:602107 E (Exact mapping: the two concepts are equivalent) UMLS:C1865856 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Leukodystrophy OBSOLETE: Unknown leukodystrophy ORPHA:84096 Steatocystoma multiplex Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. Orphanet ICD-10:L72.2 ICD-11:2F22 MeSH:D062685 MedDRA:10048905 OMIM:184500 UMLS:C0259771 Autosomal dominant Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=841 Sebocystomatosis ORPHA:841 ICD-10:L72.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2F22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D062685 E (Exact mapping: the two concepts are equivalent) MedDRA:10048905 E (Exact mapping: the two concepts are equivalent) OMIM:184500 E (Exact mapping: the two concepts are equivalent) UMLS:C0259771 E (Exact mapping: the two concepts are equivalent) Early-onset desmin-related myopathy A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes. Orphanet ICD-10:G71.8 ICD-11:4A41.21 OMIM:602771 UMLS:C4275073 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84132 Desmin-related myopathy with Mallory body-like inclusions ORPHA:84132 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:602771 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4275073 E (Exact mapping: the two concepts are equivalent) Continuous muscle fiber activity syndrome Isaacs-Mertens syndrome Quantal squander syndrome Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. Orphanet ICD-10:G71.1 ICD-11:8C71.4 MeSH:D020386 UMLS:C0242287 Not applicable All ages Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84142 Isaacs syndrome ORPHA:84142 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C71.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020386 E (Exact mapping: the two concepts are equivalent) UMLS:C0242287 E (Exact mapping: the two concepts are equivalent) Seminoma of testis Seminomatous germ cell tumor of testis Testicular seminoma Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages. Orphanet ICD-10:C62.9 ICD-11:2C80.2 OMIM:273300 UMLS:C5551428 Not applicable Adult Europe AND has_annual_incidence_average_value : 1.71 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 46.01 AND has_lifetime_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=842 Testicular seminomatous germ cell tumor ORPHA:842 ICD-10:C62.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:273300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5551428 E (Exact mapping: the two concepts are equivalent) Sporadic idiopathic nephrosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Genetic steroid-resistant nephrotic syndrome ICD-10:N04.1 ICD-10:N04.3 Sporadic idiopathic steroid-resistant nephrotic syndrome ORPHA:84271 ICD-10:N04.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:N04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). Atrial tachyarrhythmia with short PR interval LGL syndrome Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia). Orphanet ICD-10:I45.6 ICD-11:BC81.Y MeSH:D008151 MedDRA:10024984 OMIM:108950 UMLS:C0024054 Autosomal dominant Not applicable All ages Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=844 Lown-Ganong-Levine syndrome ORPHA:844 ICD-10:I45.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:BC81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008151 E (Exact mapping: the two concepts are equivalent) MedDRA:10024984 E (Exact mapping: the two concepts are equivalent) OMIM:108950 E (Exact mapping: the two concepts are equivalent) UMLS:C0024054 E (Exact mapping: the two concepts are equivalent) Beta-hexosaminidase subunit alpha deficiency GM2 gangliosidosis, Tay-Sachs variant GM2 gangliosidosis, hexosaminidase A deficiency variant HEXA disorder A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the <i>HEXA</i> gene. Orphanet ICD-10:E75.0 ICD-11:5C56.00 MeSH:D013661 MedDRA:10043147 OMIM:272800 UMLS:C0039373 Autosomal recessive All ages Australia AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown Netherlands AND has_birth_prevalence_average_value : 0.41 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 3.13 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 27.8 AND has_birth_prevalence_range : 1-5 / 10 000 Sweden AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Turkey AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Arab Emirates AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=845 Tay-Sachs disease ORPHA:845 ICD-10:E75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013661 E (Exact mapping: the two concepts are equivalent) MedDRA:10043147 E (Exact mapping: the two concepts are equivalent) OMIM:272800 E (Exact mapping: the two concepts are equivalent) UMLS:C0039373 E (Exact mapping: the two concepts are equivalent) A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. Orphanet ICD-10:D56.0 ICD-11:3A50.0 MeSH:D017085 MedDRA:10043390 OMIM:604131 UMLS:C0002312 Autosomal recessive All ages Europe AND has_birth_prevalence_range : Unknown Europe AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 10.3 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=846 Alpha-thalassemia ORPHA:846 ICD-10:D56.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A50.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017085 E (Exact mapping: the two concepts are equivalent) MedDRA:10043390 E (Exact mapping: the two concepts are equivalent) OMIM:604131 E (Exact mapping: the two concepts are equivalent) UMLS:C0002312 E (Exact mapping: the two concepts are equivalent) ATR-X syndrome A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Orphanet ICD-10:D56.0 ICD-11:3A50.1 MeSH:C538258 MedDRA:10082291 OMIM:301040 OMIM:309580 UMLS:C1845055 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=847 X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847 ICD-10:D56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538258 E (Exact mapping: the two concepts are equivalent) MedDRA:10082291 E (Exact mapping: the two concepts are equivalent) OMIM:301040 E (Exact mapping: the two concepts are equivalent) OMIM:309580 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1845055 E (Exact mapping: the two concepts are equivalent) Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). Orphanet ICD-10:D56.1 ICD-11:3A50.2 MeSH:D017086 MedDRA:10043391 OMIM:603902 OMIM:613985 UMLS:C0005283 Autosomal dominant Autosomal recessive Childhood Infancy Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=848 Beta-thalassemia ORPHA:848 ICD-10:D56.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A50.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017086 E (Exact mapping: the two concepts are equivalent) MedDRA:10043391 E (Exact mapping: the two concepts are equivalent) OMIM:603902 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613985 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0005283 E (Exact mapping: the two concepts are equivalent) Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia. Orphanet ICD-10:D69.1 ICD-11:3B62.0Y OMIM:273800 OMIM:619267 UMLS:C0040015 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=849 Glanzmann thrombasthenia ORPHA:849 ICD-10:D69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3B62.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:273800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619267 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0040015 E (Exact mapping: the two concepts are equivalent) CDA Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms). Orphanet ICD-10:D64.4 ICD-11:3A73 MeSH:D000742 MedDRA:10081457 OMIM:105600 OMIM:224100 OMIM:224120 OMIM:613673 OMIM:615631 OMIM:619789 UMLS:C0002876 Autosomal dominant Autosomal recessive X-linked recessive Childhood Europe AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 740.0 (Case(s)) Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85 Congenital dyserythropoietic anemia Clinical group ORPHA:85 ICD-10:D64.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A73 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000742 E (Exact mapping: the two concepts are equivalent) MedDRA:10081457 E (Exact mapping: the two concepts are equivalent) OMIM:105600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:224100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:224120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613673 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615631 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619789 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0002876 E (Exact mapping: the two concepts are equivalent) MHA May-Hegglin anomaly May-Hegglin syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease May-Hegglin thrombocytopenia ORPHA:850 Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. Orphanet ICD-10:D69.4 ICD-11:3B64.01 OMIM:188025 OMIM:617443 UMLS:C1956093 Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=851 Paris-Trousseau thrombocytopenia ORPHA:851 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:188025 E (Exact mapping: the two concepts are equivalent) OMIM:617443 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1956093 E (Exact mapping: the two concepts are equivalent) UMLS:C0751691 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85102 Perineurioma Clinical group ORPHA:85102 UMLS:C0751691 E (Exact mapping: the two concepts are equivalent) FENIB A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies). Orphanet ICD-10:G31.8 ICD-11:8A61.41 MeSH:C536841 OMIM:604218 UMLS:C1858680 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85110 Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536841 E (Exact mapping: the two concepts are equivalent) OMIM:604218 E (Exact mapping: the two concepts are equivalent) UMLS:C1858680 E (Exact mapping: the two concepts are equivalent) Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. Orphanet ICD-10:Q56.0 OMIM:610644 UMLS:C5680209 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112 ICD-10:Q56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610644 E (Exact mapping: the two concepts are equivalent) UMLS:C5680209 E (Exact mapping: the two concepts are equivalent) Västerbotten dystrophy Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C564392 OMIM:607475 UMLS:C1843816 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85128 Bothnia retinal dystrophy ORPHA:85128 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564392 E (Exact mapping: the two concepts are equivalent) OMIM:607475 E (Exact mapping: the two concepts are equivalent) UMLS:C1843816 E (Exact mapping: the two concepts are equivalent) CLWM Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. Orphanet ICD-10:E75.2 ICD-11:5C55.2 MeSH:C567845 OMIM:612951 UMLS:C2751843 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85136 Cystic leukoencephalopathy without megalencephaly ORPHA:85136 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567845 E (Exact mapping: the two concepts are equivalent) OMIM:612951 E (Exact mapping: the two concepts are equivalent) UMLS:C2751843 E (Exact mapping: the two concepts are equivalent) Autoimmune Addison disease Autoimmune adrenalitis Classic Addison disease Primary Addison disease A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI). Orphanet ICD-10:E27.1 ICD-11:5A74.0 MeSH:D000224 MedDRA:10001130 OMIM:103230 OMIM:240200 UMLS:C0001403 Not applicable All ages Europe AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_annual_incidence_average_value : 54.0 AND has_annual_incidence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 9.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85138 Addison disease ORPHA:85138 ICD-10:E27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000224 E (Exact mapping: the two concepts are equivalent) MedDRA:10001130 E (Exact mapping: the two concepts are equivalent) OMIM:103230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:240200 E (Exact mapping: the two concepts are equivalent) UMLS:C0001403 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Aldosterone-secreting adenoma NON RARE IN EUROPE: Aldosteronoma NON RARE IN EUROPE: Conn adenoma NON RARE IN EUROPE: Primary aldosteronism due to Conn adenoma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:D35.0 NON RARE IN EUROPE: Aldosterone-producing adenoma ORPHA:85142 ICD-10:D35.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Kaeser syndrome Stark-Kaeser syndrome A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Orphanet ICD-10:G12.1 MeSH:C566695 OMIM:181400 UMLS:C1867005 Autosomal dominant Adult Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85146 Neurogenic scapuloperoneal syndrome, Kaeser type ORPHA:85146 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). MeSH:C566695 E (Exact mapping: the two concepts are equivalent) OMIM:181400 E (Exact mapping: the two concepts are equivalent) UMLS:C1867005 E (Exact mapping: the two concepts are equivalent) FOSMN syndrome Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. Orphanet ICD-10:G60.0 UMLS:C4509818 Unknown Adult Elderly Worldwide AND has_cases/families_value : 47.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85162 Facial onset sensory and motor neuronopathy ORPHA:85162 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4509818 E (Exact mapping: the two concepts are equivalent) A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent. Orphanet ICD-10:G37.8 MeSH:C567166 OMIM:610532 UMLS:C1864663 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85163 Hypomyelination-congenital cataract syndrome ORPHA:85163 ICD-10:G37.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567166 E (Exact mapping: the two concepts are equivalent) OMIM:610532 E (Exact mapping: the two concepts are equivalent) UMLS:C1864663 E (Exact mapping: the two concepts are equivalent) CATSHL syndrome Camptodactyly-tall stature-scoliosis-deafness syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C537975 OMIM:610474 UMLS:C1864852 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome ORPHA:85164 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537975 E (Exact mapping: the two concepts are equivalent) OMIM:610474 E (Exact mapping: the two concepts are equivalent) UMLS:C1864852 E (Exact mapping: the two concepts are equivalent) SADDAN Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the <i>FGFR3</i> gene; 4p16.3). Orphanet ICD-10:Q77.4 MedDRA:10082381 OMIM:616482 UMLS:C2674173 Autosomal dominant Not applicable Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165 ICD-10:Q77.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10082381 E (Exact mapping: the two concepts are equivalent) OMIM:616482 E (Exact mapping: the two concepts are equivalent) UMLS:C2674173 E (Exact mapping: the two concepts are equivalent) PLSD-T Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the <i>COL2A1</i> gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families. Orphanet ICD-10:Q77.8 ICD-11:LD24.5Y MeSH:C563627 OMIM:151210 UMLS:C1835437 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85166 Platyspondylic dysplasia, Torrance type ORPHA:85166 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563627 E (Exact mapping: the two concepts are equivalent) OMIM:151210 E (Exact mapping: the two concepts are equivalent) UMLS:C1835437 E (Exact mapping: the two concepts are equivalent) SMD-CRD Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Orphanet ICD-10:Q77.8 ICD-11:LD24.4 OMIM:608940 UMLS:C4304887 Autosomal recessive No data available Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome ORPHA:85167 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608940 E (Exact mapping: the two concepts are equivalent) UMLS:C4304887 E (Exact mapping: the two concepts are equivalent) Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. Orphanet ICD-10:Q87.5 UMLS:C4303862 Autosomal dominant No data available Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85168 Craniofacial conodysplasia ORPHA:85168 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303862 E (Exact mapping: the two concepts are equivalent) Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. Orphanet ICD-10:M06.8 ICD-11:LD24.8Y MeSH:C564656 OMIM:606835 UMLS:C1847406 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85169 Familial digital arthropathy-brachydactyly ORPHA:85169 ICD-10:M06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564656 E (Exact mapping: the two concepts are equivalent) OMIM:606835 E (Exact mapping: the two concepts are equivalent) UMLS:C1847406 E (Exact mapping: the two concepts are equivalent) Mesomelic dysplasia with absent fibulas and triangular tibias Triangular tibia-fibular aplasia syndrome Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Orphanet ICD-10:Q78.8 ICD-11:LD24.A MeSH:C565349 OMIM:605274 UMLS:C1854470 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85170 Mesomelic dysplasia, Savarirayan type ORPHA:85170 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565349 E (Exact mapping: the two concepts are equivalent) OMIM:605274 E (Exact mapping: the two concepts are equivalent) UMLS:C1854470 E (Exact mapping: the two concepts are equivalent) Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses <i>etc.</i>). Orphanet ICD-10:Q78.8 ICD-11:LD24.D OMIM:618150 UMLS:C4509877 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:618150 E (Exact mapping: the two concepts are equivalent) UMLS:C4509877 E (Exact mapping: the two concepts are equivalent) Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others. Orphanet ICD-10:Q87.1 ICD-11:5A74.Y MeSH:C564543 OMIM:614732 UMLS:C1846009 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85173 IMAGe syndrome ORPHA:85173 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564543 E (Exact mapping: the two concepts are equivalent) OMIM:614732 E (Exact mapping: the two concepts are equivalent) UMLS:C1846009 E (Exact mapping: the two concepts are equivalent) Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. Orphanet ICD-10:Q78.8 ICD-11:LD24.E MeSH:C535826 OMIM:264180 UMLS:C0432206 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85174 Pseudodiastrophic dysplasia ORPHA:85174 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535826 E (Exact mapping: the two concepts are equivalent) OMIM:264180 E (Exact mapping: the two concepts are equivalent) UMLS:C0432206 E (Exact mapping: the two concepts are equivalent) A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases. Orphanet ICD-10:Q77.3 ICD-11:LD24.04 MeSH:C535392 UMLS:C1300228 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85175 Astley-Kendall dysplasia ORPHA:85175 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535392 E (Exact mapping: the two concepts are equivalent) UMLS:C1300228 E (Exact mapping: the two concepts are equivalent) This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. Orphanet ICD-10:Q78.2 ICD-11:LD24.10 OMIM:600329 UMLS:C4510764 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85179 Infantile osteopetrosis with neuroaxonal dysplasia ORPHA:85179 ICD-10:Q78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600329 E (Exact mapping: the two concepts are equivalent) UMLS:C4510764 E (Exact mapping: the two concepts are equivalent) Bone dysplasia-medullary fibrosarcoma syndrome Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Hardcastle syndrome Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma). Orphanet ICD-10:M89.8 ICD-11:LD24.1Y MeSH:C536169 OMIM:112250 UMLS:C1862177 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85182 Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182 ICD-10:M89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536169 E (Exact mapping: the two concepts are equivalent) OMIM:112250 E (Exact mapping: the two concepts are equivalent) UMLS:C1862177 E (Exact mapping: the two concepts are equivalent) Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Orphanet ICD-10:Q78.8 ICD-11:LD24.1Y OMIM:269300 UMLS:C4510809 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85184 Craniometadiaphyseal dysplasia, wormian bone type ORPHA:85184 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:269300 E (Exact mapping: the two concepts are equivalent) UMLS:C4510809 E (Exact mapping: the two concepts are equivalent) Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C535353 OMIM:614381 UMLS:C3280644 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85186 Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535353 E (Exact mapping: the two concepts are equivalent) OMIM:614381 E (Exact mapping: the two concepts are equivalent) UMLS:C3280644 E (Exact mapping: the two concepts are equivalent) Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. Orphanet ICD-10:Q78.5 ICD-11:LD24.1Y MeSH:C565271 OMIM:605946 UMLS:C1853825 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85188 Metaphyseal dysplasia, Braun-Tinschert type ORPHA:85188 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565271 E (Exact mapping: the two concepts are equivalent) OMIM:605946 E (Exact mapping: the two concepts are equivalent) UMLS:C1853825 E (Exact mapping: the two concepts are equivalent) Singleton-Merten syndrome Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). Orphanet ICD-10:Q78.8 ICD-11:LD24.KY MeSH:C537343 OMIM:182250 OMIM:616298 UMLS:C0432254 Autosomal dominant No data available Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85191 Singleton-Merten dysplasia ORPHA:85191 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537343 E (Exact mapping: the two concepts are equivalent) OMIM:182250 E (Exact mapping: the two concepts are equivalent) OMIM:616298 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432254 E (Exact mapping: the two concepts are equivalent) Familial doughnut lesions of skull A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. Orphanet ICD-10:M85.8 ICD-11:LD24.KY MeSH:C565089 OMIM:126550 UMLS:C1852022 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85192 Calvarial doughnut lesions-bone fragility syndrome ORPHA:85192 ICD-10:M85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565089 E (Exact mapping: the two concepts are equivalent) OMIM:126550 E (Exact mapping: the two concepts are equivalent) UMLS:C1852022 E (Exact mapping: the two concepts are equivalent) IJO Juvenile osteoporosis Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Orphanet ICD-10:M81.5 ICD-11:FB83.1Y MeSH:C537700 MedDRA:10088561 OMIM:259750 OMIM:615221 UMLS:C0264080 Multigenic/multifactorial Not applicable Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85193 Idiopathic juvenile osteoporosis ORPHA:85193 ICD-10:M81.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB83.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537700 E (Exact mapping: the two concepts are equivalent) MedDRA:10088561 E (Exact mapping: the two concepts are equivalent) OMIM:259750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615221 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0264080 E (Exact mapping: the two concepts are equivalent) Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. Orphanet ICD-10:Q87.5 ICD-11:LD24.KY OMIM:605822 UMLS:C4225412 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85194 Spondylo-ocular syndrome ORPHA:85194 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.KY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605822 E (Exact mapping: the two concepts are equivalent) UMLS:C4225412 E (Exact mapping: the two concepts are equivalent) Hereditary expansile polyostotic osteolytic dysplasia McCabe disease A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant. Orphanet ICD-10:M89.5 ICD-11:FB86.2 MeSH:C536335 OMIM:174810 UMLS:C0432292 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85195 Familial expansile osteolysis ORPHA:85195 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536335 E (Exact mapping: the two concepts are equivalent) OMIM:174810 E (Exact mapping: the two concepts are equivalent) UMLS:C0432292 E (Exact mapping: the two concepts are equivalent) NAO syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multicentric osteolysis-nodulosis-arthropathy spectrum Nodulosis-arthropathy-osteolysis syndrome ORPHA:85196 A rare disorder characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. The clinical course is benign. Orphanet ICD-10:Q78.4 ICD-11:LD24.2Y OMIM:137360 UMLS:C5438970 Autosomal dominant Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85197 Genochondromatosis type 1 ORPHA:85197 ICD-10:Q78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:137360 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5438970 E (Exact mapping: the two concepts are equivalent) Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. Orphanet ICD-10:Q78.4 ICD-11:LD24.2Y UMLS:C4302548 Autosomal dominant Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85198 Dysspondyloenchondromatosis ORPHA:85198 ICD-10:Q78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302548 E (Exact mapping: the two concepts are equivalent) CAP syndrome CDAGS syndrome Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536789 OMIM:603116 UMLS:C1864186 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85199 Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536789 E (Exact mapping: the two concepts are equivalent) OMIM:603116 E (Exact mapping: the two concepts are equivalent) UMLS:C1864186 E (Exact mapping: the two concepts are equivalent) ICD-10:D69.4 ICD-11:3B62.0Y OMIM:313900 UMLS:C5548213 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=852 X-linked thrombocytopenia with normal platelets Etiological subtype ORPHA:852 ICD-10:D69.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:313900 E (Exact mapping: the two concepts are equivalent) UMLS:C5548213 E (Exact mapping: the two concepts are equivalent) Ischiospinal dysostosis Ischiovertebral dysplasia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Diaphanospondylodysostosis UMLS:C4274732 Ischio-vertebral syndrome ORPHA:85200 UMLS:C4274732 E (Exact mapping: the two concepts are equivalent) Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome A rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C565255 OMIM:606170 UMLS:C1853566 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85201 Genitopatellar syndrome ORPHA:85201 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565255 E (Exact mapping: the two concepts are equivalent) OMIM:606170 E (Exact mapping: the two concepts are equivalent) UMLS:C1853566 E (Exact mapping: the two concepts are equivalent) Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536167 OMIM:245150 UMLS:C1855607 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85202 Keutel syndrome ORPHA:85202 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536167 E (Exact mapping: the two concepts are equivalent) OMIM:245150 E (Exact mapping: the two concepts are equivalent) UMLS:C1855607 E (Exact mapping: the two concepts are equivalent) ACRP syndrome Syndactyly-preaxial polydactyly-sternal deformity syndrome A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. Orphanet ICD-10:Q74.0 ICD-11:LB73.13 MeSH:C535664 OMIM:605967 UMLS:C1853812 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85203 Acropectoral syndrome ORPHA:85203 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB73.13 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535664 E (Exact mapping: the two concepts are equivalent) OMIM:605967 E (Exact mapping: the two concepts are equivalent) UMLS:C1853812 E (Exact mapping: the two concepts are equivalent) Perinatal lethal Gaucher disease Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term). Orphanet ICD-10:E75.2 ICD-11:5C56.0Y MeSH:C564306 OMIM:608013 UMLS:C1842704 Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85212 Fetal Gaucher disease Clinical subtype ORPHA:85212 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564306 E (Exact mapping: the two concepts are equivalent) OMIM:608013 E (Exact mapping: the two concepts are equivalent) UMLS:C1842704 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C535556 OMIM:300262 UMLS:C4305021 X-linked recessive Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85273 X-linked intellectual disability, Abidi type ORPHA:85273 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535556 E (Exact mapping: the two concepts are equivalent) OMIM:300262 E (Exact mapping: the two concepts are equivalent) UMLS:C4305021 E (Exact mapping: the two concepts are equivalent) MRXS7 X-linked intellectual disability, Ahmad type A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C537449 OMIM:300218 UMLS:C1846170 X-linked recessive No data available Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85274 Syndromic X-linked intellectual disability 7 ORPHA:85274 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537449 E (Exact mapping: the two concepts are equivalent) OMIM:300218 E (Exact mapping: the two concepts are equivalent) UMLS:C1846170 E (Exact mapping: the two concepts are equivalent) MCOPS4 Syndromic microphthalmia type 4 Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Orphanet ICD-10:Q11.2 ICD-11:LD21.0 UMLS:C1844948 X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1844948 E (Exact mapping: the two concepts are equivalent) Armfield syndrome X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300261 UMLS:C4305022 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85276 X-linked intellectual disability, Armfield type ORPHA:85276 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300261 E (Exact mapping: the two concepts are equivalent) UMLS:C4305022 E (Exact mapping: the two concepts are equivalent) A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300912 UMLS:C4305023 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85277 X-linked intellectual disability, Cantagrel type ORPHA:85277 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300912 E (Exact mapping: the two concepts are equivalent) UMLS:C4305023 E (Exact mapping: the two concepts are equivalent) X-linked Angelman-like syndrome A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis. Orphanet ICD-10:Q87.8 ICD-11:8A03.1Y MeSH:C567484 OMIM:300243 UMLS:C2678194 X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 1.7241 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85278 Christianson syndrome ORPHA:85278 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567484 E (Exact mapping: the two concepts are equivalent) OMIM:300243 E (Exact mapping: the two concepts are equivalent) UMLS:C2678194 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300534 UMLS:C5681493 X-linked recessive Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85279 KDM5C-related syndromic X-linked intellectual disability ORPHA:85279 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300534 E (Exact mapping: the two concepts are equivalent) UMLS:C5681493 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300471 UMLS:C4304935 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome ORPHA:85280 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300471 E (Exact mapping: the two concepts are equivalent) UMLS:C4304935 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Lubs-Arena syndrome OBSOLETE: X-linked intellectual disability, Lubs type OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Proximal Xq28 duplication syndrome OBSOLETE: MECP2 duplication syndrome ORPHA:85281 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. Orphanet ICD-10:Q87.8 ICD-11:LD29 MeSH:C537451 OMIM:300148 UMLS:C1846278 X-linked recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85282 MEHMO syndrome ORPHA:85282 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD29 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537451 E (Exact mapping: the two concepts are equivalent) OMIM:300148 E (Exact mapping: the two concepts are equivalent) UMLS:C1846278 E (Exact mapping: the two concepts are equivalent) X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C537472 OMIM:314580 UMLS:C4305025 X-linked recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85283 X-linked intellectual disability, Miles-Carpenter type ORPHA:85283 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537472 E (Exact mapping: the two concepts are equivalent) OMIM:314580 E (Exact mapping: the two concepts are equivalent) UMLS:C4305025 E (Exact mapping: the two concepts are equivalent) BRESHECK syndrome A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C564519 OMIM:308205 UMLS:C3502469 X-linked dominant Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85284 BRESEK syndrome ORPHA:85284 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564519 E (Exact mapping: the two concepts are equivalent) OMIM:308205 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3502469 E (Exact mapping: the two concepts are equivalent) A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C536630 OMIM:312840 UMLS:C4305027 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85285 X-linked intellectual disability, Schimke type ORPHA:85285 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536630 E (Exact mapping: the two concepts are equivalent) OMIM:312840 E (Exact mapping: the two concepts are equivalent) UMLS:C4305027 E (Exact mapping: the two concepts are equivalent) Syndromic X-linked intellectual disability type 11 X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300238 UMLS:C4305085 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85286 X-linked intellectual disability, Shashi type ORPHA:85286 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300238 E (Exact mapping: the two concepts are equivalent) UMLS:C4305085 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the <i>PHF8</i> gene, localised to the p11.21 region of the X chromosome. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C537333 MedDRA:10082377 OMIM:300263 UMLS:C4305078 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85287 X-linked intellectual disability, Siderius type ORPHA:85287 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537333 E (Exact mapping: the two concepts are equivalent) MedDRA:10082377 E (Exact mapping: the two concepts are equivalent) OMIM:300263 E (Exact mapping: the two concepts are equivalent) UMLS:C4305078 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the <i>KIAA1202</i> gene, localised to the Xp11.2 region. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300434 UMLS:C4305076 X-linked recessive Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85288 X-linked intellectual disability, Stocco Dos Santos type ORPHA:85288 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300434 E (Exact mapping: the two concepts are equivalent) UMLS:C4305076 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked intellectual disability, Cabezas type X-linked intellectual disability, Vitale type ORPHA:85289 X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:309545 UMLS:C4305028 X-linked dominant X-linked recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85290 X-linked intellectual disability, Wilson type ORPHA:85290 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:309545 E (Exact mapping: the two concepts are equivalent) UMLS:C4305028 E (Exact mapping: the two concepts are equivalent) Wittwer syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Wolf-Hirschhorn syndrome MeSH:C536760 X-linked intellectual disability, Wittwer type ORPHA:85291 MeSH:C536760 E (Exact mapping: the two concepts are equivalent) SCAX4 X-linked ataxia-dementia syndrome A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MeSH:C537316 OMIM:301840 UMLS:C1844933 X-linked recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85292 X-linked spinocerebellar ataxia type 4 ORPHA:85292 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537316 E (Exact mapping: the two concepts are equivalent) OMIM:301840 E (Exact mapping: the two concepts are equivalent) UMLS:C1844933 E (Exact mapping: the two concepts are equivalent) Cabezas syndrome An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:300354 UMLS:C1845861 X-linked recessive Childhood Worldwide AND has_cases/families_value : 24.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85293 X-linked intellectual disability, Cabezas type ORPHA:85293 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300354 E (Exact mapping: the two concepts are equivalent) UMLS:C1845861 E (Exact mapping: the two concepts are equivalent) X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). Orphanet ICD-10:Q87.8 OMIM:300491 UMLS:C4273990 X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome ORPHA:85294 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300491 E (Exact mapping: the two concepts are equivalent) UMLS:C4273990 E (Exact mapping: the two concepts are equivalent) HSD10 deficiency, atypical type Syndromic X-linked intellectual disability type 10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome ICD-10:G25.5 ICD-11:5C52.01 OMIM:300438 UMLS:C5680206 X-linked dominant Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85295 HSD10 disease, atypical type Clinical subtype ORPHA:85295 ICD-10:G25.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300438 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680206 E (Exact mapping: the two concepts are equivalent) SCAX3 X-linked ataxia-deafness syndrome X-linked ataxia-hearing loss syndrome X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MeSH:C537315 OMIM:301790 UMLS:C1844936 X-linked recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85297 X-linked spinocerebellar ataxia type 3 ORPHA:85297 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537315 E (Exact mapping: the two concepts are equivalent) OMIM:301790 E (Exact mapping: the two concepts are equivalent) UMLS:C1844936 E (Exact mapping: the two concepts are equivalent) FNAIT NAIT A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns. Orphanet ICD-10:P61.0 ICD-11:3B64.00 UMLS:C3854603 Not applicable Antenatal Neonatal Worldwide AND has_birth_prevalence_average_value : 66.6667 AND has_birth_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_average_value : 39.6307 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=853 Fetal and neonatal alloimmune thrombocytopenia ORPHA:853 ICD-10:P61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3854603 E (Exact mapping: the two concepts are equivalent) A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4304919 X-linked recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome ORPHA:85317 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304919 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome ORPHA:85318 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4304917 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome ORPHA:85319 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304917 E (Exact mapping: the two concepts are equivalent) Johnson syndrome An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities. Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4304406 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome ORPHA:85320 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304406 E (Exact mapping: the two concepts are equivalent) Hearing loss-intellectual disability syndrome, Martin-Probst type Martin-Probst syndrome X-linked deafness-intellectual disability syndrome X-linked hearing loss-intellectual disability syndrome A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C564495 OMIM:300519 UMLS:C1845285 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85321 Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564495 E (Exact mapping: the two concepts are equivalent) OMIM:300519 E (Exact mapping: the two concepts are equivalent) UMLS:C1845285 E (Exact mapping: the two concepts are equivalent) A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4305026 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85322 X-linked intellectual disability, Pai type ORPHA:85322 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305026 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Orphanet ICD-10:Q87.8 ICD-11:LD20.2 UMLS:C4305088 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85323 X-linked intellectual disability, Seemanova type ORPHA:85323 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305088 E (Exact mapping: the two concepts are equivalent) MRXS9 An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described. Orphanet ICD-10:Q87.8 ICD-11:LD90 MeSH:C567474 OMIM:300709 UMLS:C2678039 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85324 X-linked intellectual disability, Shrimpton type ORPHA:85324 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567474 E (Exact mapping: the two concepts are equivalent) OMIM:300709 E (Exact mapping: the two concepts are equivalent) UMLS:C2678039 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4305077 X-linked recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85325 X-linked intellectual disability, Stevenson type ORPHA:85325 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305077 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4305075 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85326 X-linked intellectual disability, Stoll type ORPHA:85326 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305075 E (Exact mapping: the two concepts are equivalent) X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. Orphanet ICD-10:Q87.8 ICD-11:LD90 UMLS:C4304407 X-linked recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome ORPHA:85327 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4304407 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-specific syndromic intellectual disability OMIM:309590 UMLS:C2678046 X-linked intellectual disability, Turner type ORPHA:85328 OMIM:309590 E (Exact mapping: the two concepts are equivalent) UMLS:C2678046 E (Exact mapping: the two concepts are equivalent) A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. Orphanet ICD-10:Q87.8 ICD-11:LD90 OMIM:304340 UMLS:C4304918 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome ORPHA:85329 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:304340 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4304918 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MASA syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome ORPHA:85330 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome ORPHA:85331 Aldred syndrome Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. Orphanet ICD-10:H35.5 ICD-11:LD90 MeSH:C537046 OMIM:300578 UMLS:C0795873 X-linked recessive Antenatal Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85332 X-linked intellectual disability-retinitis pigmentosa syndrome ORPHA:85332 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537046 E (Exact mapping: the two concepts are equivalent) OMIM:300578 E (Exact mapping: the two concepts are equivalent) UMLS:C0795873 E (Exact mapping: the two concepts are equivalent) Arena syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pelizaeus-Merzbacher disease UMLS:C2931491 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome ORPHA:85333 UMLS:C2931491 E (Exact mapping: the two concepts are equivalent) An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. Orphanet ICD-10:G31.8 ICD-11:LD90 UMLS:C4305133 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85334 X-linked neurodegenerative syndrome, Bertini type ORPHA:85334 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305133 E (Exact mapping: the two concepts are equivalent) Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Orphanet ICD-10:Q87.8 OMIM:304340 UMLS:C4305134 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85335 Fried syndrome ORPHA:85335 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:304340 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4305134 E (Exact mapping: the two concepts are equivalent) An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Orphanet ICD-10:G31.8 ICD-11:8A2Y UMLS:C4305135 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85336 X-linked neurodegenerative syndrome, Hamel type ORPHA:85336 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4305135 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Allan-Herndon-Dudley syndrome X-linked intellectual disability, Zorick type ORPHA:85337 A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:G31.8 ICD-11:8A03.1Y UMLS:C4305139 X-linked recessive Childhood Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85338 X-linked intellectual disability-ataxia-apraxia syndrome ORPHA:85338 ICD-10:G31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4305139 E (Exact mapping: the two concepts are equivalent) Non-cirrhotic and non-tumoral portal vein thrombosis Non-malignant non-cirrhotic PVT Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system. Orphanet ICD-10:I81 ICD-11:DB98.3 MedDRA:10036206 UMLS:C0155773 Not applicable All ages Europe AND has_annual_incidence_average_value : 1.72 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown Italy AND has_annual_incidence_average_value : 2.75 Sweden AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=854 Non-malignant and non-cirrhotic portal vein thrombosis ORPHA:854 ICD-10:I81 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB98.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10036206 E (Exact mapping: the two concepts are equivalent) UMLS:C0155773 E (Exact mapping: the two concepts are equivalent) Juvenile polyarthritis without rheumatoid factor Juvenile rheumatoid factor-negative polyarthritis Rheumatoid factor-negative polyarticular JIA A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM. Orphanet ICD-10:M08.3 ICD-11:FA24.1 UMLS:C3890205 Multigenic/multifactorial Childhood Europe AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis ORPHA:85408 ICD-10:M08.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:FA24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3890205 E (Exact mapping: the two concepts are equivalent) Oligoarticular JIA Pauciarticular chronic arthritis A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset. Orphanet ICD-10:M08.4 ICD-11:FA24.0 MeSH:C536312 UMLS:C2931171 Multigenic/multifactorial Childhood Europe AND has_point_prevalence_average_value : 20.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85410 Oligoarticular juvenile idiopathic arthritis ORPHA:85410 ICD-10:M08.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FA24.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536312 E (Exact mapping: the two concepts are equivalent) UMLS:C2931171 E (Exact mapping: the two concepts are equivalent) Still disease Systemic-onset JIA A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis. Orphanet ICD-10:M08.2 ICD-11:FA24.4 MedDRA:10042061 OMIM:604302 OMIM:618795 UMLS:C0087031 Multigenic/multifactorial Unknown Childhood Worldwide AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85414 Systemic-onset juvenile idiopathic arthritis ORPHA:85414 ICD-10:M08.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FA24.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10042061 E (Exact mapping: the two concepts are equivalent) OMIM:604302 E (Exact mapping: the two concepts are equivalent) OMIM:618795 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0087031 E (Exact mapping: the two concepts are equivalent) Juvenile idiopathic rheumatoid factor-positive polyarthritis Juvenile polyarthritis with rheumatoid factor Rheumatoid factor-positive polyarticular JIA A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction. Orphanet ICD-10:M08.0 ICD-11:FA24.1 UMLS:C4048747 Unknown Childhood Europe AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis ORPHA:85435 ICD-10:M08.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:FA24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4048747 E (Exact mapping: the two concepts are equivalent) Juvenile psoriatic arthritis Psoriasis-related JIA A rare pediatric inflammatory rheumatic disease characterized by the presence of arthritis accompanied by either psoriasis or at least two of the following supporting features; presence of nail pitting, onycholysis, dactylitis, or a family history of psoriasis in a first degree relative. Patients are younger than 16 years of age and the disease lasts longer than 6 weeks. Orphanet ICD-10:L40.5+ ICD-10:M09.0* ICD-11:FA24.2 MedDRA:10076674 UMLS:C3714758 Unknown Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85436 Psoriasis-related juvenile idiopathic arthritis ORPHA:85436 ICD-10:L40.5+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M09.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FA24.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10076674 E (Exact mapping: the two concepts are equivalent) UMLS:C3714758 E (Exact mapping: the two concepts are equivalent) Enthesitis-related JIA Juvenile ERA A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved. Orphanet ICD-10:M08.8 ICD-11:FA24.3 UMLS:C3495919 Unknown Adolescent Childhood Europe AND has_point_prevalence_average_value : 5.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85438 Enthesitis-related juvenile idiopathic arthritis ORPHA:85438 ICD-10:M08.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FA24.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3495919 E (Exact mapping: the two concepts are equivalent) Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25). Orphanet ICD-10:E23.0 OMIM:262700 UMLS:C4303613 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome ORPHA:85442 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:262700 E (Exact mapping: the two concepts are equivalent) UMLS:C4303613 E (Exact mapping: the two concepts are equivalent) Light-chain amyloidosis A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system. Orphanet ICD-10:E85.4 ICD-10:E85.9 ICD-11:5D00.0 MeSH:D000075363 MedDRA:10036673 OMIM:254500 UMLS:C0268381 Not applicable Adult Argentina AND has_annual_incidence_average_value : 6.0 AND has_annual_incidence_range : 1-9 / 1 000 000 Austria AND has_annual_incidence_average_value : 1.166 AND has_annual_incidence_range : 1-9 / 100 000 Austria AND has_point_prevalence_average_value : 5.77 AND has_point_prevalence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 1.122 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_point_prevalence_average_value : 5.54 AND has_point_prevalence_range : 1-9 / 1 000 000 Brazil AND has_annual_incidence_average_value : 0.672 AND has_annual_incidence_range : 1-9 / 1 000 000 Brazil AND has_point_prevalence_average_value : 3.222 AND has_point_prevalence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 1.174 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_point_prevalence_average_value : 5.892 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_annual_incidence_average_value : 1.076 AND has_annual_incidence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 5.215 AND has_point_prevalence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 1.156 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_point_prevalence_average_value : 5.801 AND has_point_prevalence_range : 1-9 / 100 000 Cyprus AND has_annual_incidence_average_value : 0.894 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_point_prevalence_average_value : 4.299 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 1.109 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 5.462 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 1.124 AND has_annual_incidence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 5.568 AND has_point_prevalence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 1.107 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_point_prevalence_average_value : 5.51 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 1.1177 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 5.5311 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 1.187 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 5.885 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 1.152 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 5.692 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 1.294 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 6.459 AND has_point_prevalence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 1.254 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 6.219 AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_annual_incidence_average_value : 1.088 AND has_annual_incidence_range : 1-9 / 100 000 Hungary AND has_point_prevalence_average_value : 5.418 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 0.948 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_point_prevalence_average_value : 4.643 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 0.913 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_point_prevalence_average_value : 4.448 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 1.329 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 6.538 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 1.43 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 7.108 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_annual_incidence_average_value : 0.997 AND has_annual_incidence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 4.822 AND has_point_prevalence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 1.123 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_point_prevalence_average_value : 5.71 AND has_point_prevalence_range : 1-9 / 100 000 Liechtenstein AND has_annual_incidence_average_value : 1.174 AND has_annual_incidence_range : 1-9 / 100 000 Liechtenstein AND has_point_prevalence_average_value : 5.809 AND has_point_prevalence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 1.109 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_point_prevalence_average_value : 5.61 AND has_point_prevalence_range : 1-9 / 100 000 Luxembourg AND has_annual_incidence_average_value : 0.968 AND has_annual_incidence_range : 1-9 / 1 000 000 Luxembourg AND has_point_prevalence_average_value : 4.653 AND has_point_prevalence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 1.147 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_point_prevalence_average_value : 5.641 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 1.146 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 5.672 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.018 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 4.977 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 1.044 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 5.134 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 1.25 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 6.216 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_annual_incidence_average_value : 1.107 AND has_annual_incidence_range : 1-9 / 100 000 Romania AND has_point_prevalence_average_value : 5.537 AND has_point_prevalence_range : 1-9 / 100 000 Russian Federation AND has_annual_incidence_average_value : 0.93 AND has_annual_incidence_range : 1-9 / 1 000 000 Russian Federation AND has_point_prevalence_average_value : 4.569 AND has_point_prevalence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 0.968 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_point_prevalence_average_value : 4.76 AND has_point_prevalence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 1.167 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_point_prevalence_average_value : 5.756 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 1.193 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 5.864 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 1.141 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 5.667 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 1.001 AND has_annual_incidence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 4.852 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 1.078 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 5.316 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.991 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 4.842 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 1.044 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 5.127 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85443 AL amyloidosis ORPHA:85443 ICD-10:E85.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E85.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5D00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000075363 E (Exact mapping: the two concepts are equivalent) MedDRA:10036673 E (Exact mapping: the two concepts are equivalent) OMIM:254500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0268381 E (Exact mapping: the two concepts are equivalent) Inflammatory amyloidosis Reactive amyloidosis A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart. Orphanet ICD-10:E85.3 ICD-11:5D00.1 MeSH:C000718787 MedDRA:10039811 UMLS:C3536715 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85445 AA amyloidosis ORPHA:85445 ICD-10:E85.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5D00.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C000718787 E (Exact mapping: the two concepts are equivalent) MedDRA:10039811 E (Exact mapping: the two concepts are equivalent) UMLS:C3536715 E (Exact mapping: the two concepts are equivalent) ABeta2Mwt amyloidosis Dialysis-related amyloidosis Dialysis-related arthropathy Wild type ABeta2-microglobulinic amyloidosis A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (&#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures. Orphanet ICD-10:E85.3 ICD-11:5D00.3 UMLS:C0268405 Not applicable Adult Europe AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85446 Wild type ABeta2M amyloidosis ORPHA:85446 ICD-10:E85.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5D00.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0268405 E (Exact mapping: the two concepts are equivalent) ATTRV30M-related amyloidosis Hereditary ATTRV30M-related amyloidosis A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy. Orphanet ICD-10:E85.1 ICD-11:5D00.20 OMIM:105210 OMIM:115430 Autosomal dominant Adult Cyprus AND has_annual_incidence_average_value : 0.69 AND has_annual_incidence_range : 1-9 / 1 000 000 Cyprus AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 90.0 AND has_point_prevalence_range : 6-9 / 10 000 Spain AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 3.75 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 97.5 AND has_point_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85447 ATTRV30M amyloidosis Clinical subtype ORPHA:85447 ICD-10:E85.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105210 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:115430 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Familial amyloid polyneuropathy type IV Familial amyloidosis, Finnish type Gelsolin amyloidosis Hereditary amyloidosis, Finnish type A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure. Orphanet ICD-10:E85.1 ICD-11:5D00.2Y OMIM:105120 UMLS:C0936273 Autosomal dominant Adult Worldwide AND has_cases/families_value : 475.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85448 AGel amyloidosis ORPHA:85448 ICD-10:E85.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105120 E (Exact mapping: the two concepts are equivalent) UMLS:C0936273 E (Exact mapping: the two concepts are equivalent) Amyloidosis, Ostertag type Familial amyloid nephropathy Familial renal amyloidosis Hereditary amyloid nephropathy Hereditary renal amyloidosis A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited. Orphanet ICD-10:E85.0 ICD-11:5D00.2Y OMIM:105200 UMLS:C0268389 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85450 Hereditary amyloidosis with primary renal involvement ORPHA:85450 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105200 E (Exact mapping: the two concepts are equivalent) UMLS:C0268389 E (Exact mapping: the two concepts are equivalent) ATTRV122I-related amyloidosis A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Orphanet ICD-10:E85.4 ICD-11:5D00.20 OMIM:105210 UMLS:C4275067 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85451 ATTRV122I amyloidosis Clinical subtype ORPHA:85451 ICD-10:E85.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105210 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4275067 E (Exact mapping: the two concepts are equivalent) Familial cutaneous amyloidosis PDR Partington disease X-linked cutaneous amyloidosis XLPDR X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. Orphanet ICD-10:E85.0+ ICD-10:L99.0* ICD-11:5D00.Y MeSH:C564461 OMIM:301220 UMLS:C1845050 X-linked dominant Childhood Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85453 X-linked reticulate pigmentary disorder ORPHA:85453 ICD-10:E85.0+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564461 E (Exact mapping: the two concepts are equivalent) OMIM:301220 E (Exact mapping: the two concepts are equivalent) UMLS:C1845050 E (Exact mapping: the two concepts are equivalent) HCHWA Hereditary cerebral hemorrhage with amyloidosis A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 OMIM:105150 OMIM:605714 UMLS:C1510489 Autosomal dominant Adult Worldwide AND has_cases/families_value : 350.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85458 Cerebral Amyloid Angiopathy ORPHA:85458 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:105150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605714 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1510489 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Hashimoto hypothyroidism NON RARE IN EUROPE: Hashimoto struma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E06.3 NON RARE IN EUROPE: Hashimoto thyroiditis ORPHA:855 ICD-10:E06.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). NON RARE IN EUROPE: GTS NON RARE IN EUROPE: Gilles de la Tourette syndrome NON RARE IN EUROPE: Tourette disease This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:F95.2 NON RARE IN EUROPE: Tourette syndrome ORPHA:856 ICD-10:F95.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Imperforate anus-hand, foot and ear anomalies syndrome REAR syndrome Renal-ear-anal-radial syndrome Sensorineural deafness with imperforate anus and hypoplastic thumbs Sensorineural hearing loss with imperforate anus and hypoplastic thumbs TBS Townes syndrome A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536974 OMIM:107480 OMIM:617466 UMLS:C0265246 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.42 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=857 Townes-Brocks syndrome ORPHA:857 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536974 E (Exact mapping: the two concepts are equivalent) OMIM:107480 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617466 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265246 E (Exact mapping: the two concepts are equivalent) Mother-to-child transmission of toxoplasmosis Toxoplasma embryofetopathy Toxoplasma embryopathy A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by <i>Toxoplasma gondii</i> (Tg). Orphanet ICD-10:P37.1 ICD-11:KA64.0 MeSH:D014125 MedDRA:10010652 UMLS:C0040560 Not applicable Antenatal Infancy Neonatal Brazil AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 30.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 30.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 130.0 AND has_birth_prevalence_range : >1 / 1000 Greece AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 640.0 AND has_birth_prevalence_range : >1 / 1000 Italy AND has_birth_prevalence_average_value : 138.0 AND has_birth_prevalence_range : >1 / 1000 Poland AND has_birth_prevalence_average_value : 113.0 AND has_birth_prevalence_range : >1 / 1000 Sweden AND has_birth_prevalence_average_value : 7.3 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 55.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=858 Congenital toxoplasmosis ORPHA:858 ICD-10:P37.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA64.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014125 E (Exact mapping: the two concepts are equivalent) MedDRA:10010652 E (Exact mapping: the two concepts are equivalent) UMLS:C0040560 E (Exact mapping: the two concepts are equivalent) Inherited deficiency of transcobalamin Transcobalamin II deficiency Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. Orphanet ICD-10:D51.2 ICD-11:3A01.0 MedDRA:10084086 OMIM:275350 UMLS:C0342701 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=859 Transcobalamin deficiency ORPHA:859 ICD-10:D51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10084086 E (Exact mapping: the two concepts are equivalent) OMIM:275350 E (Exact mapping: the two concepts are equivalent) UMLS:C0342701 E (Exact mapping: the two concepts are equivalent) ICD-10:I71.4 ICD-11:BD50.4Z OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS:C4275172 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86 Familial abdominal aortic aneurysm ORPHA:86 ICD-10:I71.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD50.4Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:100070 E (Exact mapping: the two concepts are equivalent) OMIM:609782 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611891 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614375 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4275172 E (Exact mapping: the two concepts are equivalent) Congenitally uncorrected transposition of the great vessels D-transposition of the great arteries Dextro-transposition of the great arteries Isolated ventriculoarterial discordance Ventriculoarterial discordance with atrioventricular concordance Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. Orphanet ICD-10:Q20.3 ICD-11:LA85.1 OMIM:608808 OMIM:613854 UMLS:C3531771 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 24.25 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=860 Congenitally uncorrected transposition of the great arteries ORPHA:860 ICD-10:Q20.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA85.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:608808 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613854 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3531771 E (Exact mapping: the two concepts are equivalent) Franceschetti-Klein syndrome Mandibulofacial dysostosis without limb anomalies A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Orphanet ICD-10:Q75.4 ICD-11:LD2F.16 OMIM:154500 OMIM:248390 OMIM:613717 OMIM:618939 Autosomal dominant Autosomal recessive Neonatal Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 6.9 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=861 Treacher-Collins syndrome ORPHA:861 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:154500 E (Exact mapping: the two concepts are equivalent) OMIM:248390 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613717 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618939 BTNT (ORPHAcode is broader than the targeted code used to represent it) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G25.0 NON RARE IN EUROPE: Hereditary essential tremor ORPHA:862 ICD-10:G25.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Trichinosis Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus <i>Trichinella</i> and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. Orphanet ICD-10:B75 ICD-11:1F6E MeSH:D014235 MedDRA:10044608 UMLS:C0040896 Not applicable All ages Bulgaria AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.067 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown Italy AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 1.06 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.64 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=863 Trichinellosis ORPHA:863 ICD-10:B75 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F6E - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014235 E (Exact mapping: the two concepts are equivalent) MedDRA:10044608 E (Exact mapping: the two concepts are equivalent) UMLS:C0040896 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Ij CDG-Ij CDG1J Carbohydrate deficient glycoprotein syndrome type Ij Congenital disorder of glycosylation type 1j Congenital disorder of glycosylation type Ij Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene <i>DPAGT1 </i> (11q23.3). Orphanet ICD-10:E77.8 ICD-11:5C54.0 MeSH:C535748 OMIM:608093 UMLS:C2931004 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86309 DPAGT1-CDG ORPHA:86309 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535748 E (Exact mapping: the two concepts are equivalent) OMIM:608093 E (Exact mapping: the two concepts are equivalent) UMLS:C2931004 E (Exact mapping: the two concepts are equivalent) A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair. Orphanet ICD-10:D23.4 MeSH:C536553 MedDRA:10044611 UMLS:C0334262 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=864 Trichofolliculoma ORPHA:864 ICD-10:D23.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536553 E (Exact mapping: the two concepts are equivalent) MedDRA:10044611 E (Exact mapping: the two concepts are equivalent) UMLS:C0334262 E (Exact mapping: the two concepts are equivalent) ICD-10:D23.3 ICD-10:D23.4 ICD-10:D23.5 ICD-11:2F22 OMIM:601606 OMIM:612099 UMLS:C1275122 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=867 Familial multiple trichoepithelioma Clinical subtype ORPHA:867 ICD-10:D23.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D23.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D23.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601606 E (Exact mapping: the two concepts are equivalent) OMIM:612099 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1275122 E (Exact mapping: the two concepts are equivalent) X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the <i>WAS</i> gene, encoding the WASP protein. Orphanet ICD-10:D70 ICD-11:4B00.00 MeSH:C564539 OMIM:300299 UMLS:C1845987 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86788 X-linked severe congenital neutropenia ORPHA:86788 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564539 E (Exact mapping: the two concepts are equivalent) OMIM:300299 E (Exact mapping: the two concepts are equivalent) UMLS:C1845987 E (Exact mapping: the two concepts are equivalent) PTLAH Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. Orphanet ICD-10:Q74.1 ICD-11:LB95 MeSH:C535568 OMIM:168860 UMLS:C1868577 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86789 Isolated patella aplasia/hypoplasia ORPHA:86789 ICD-10:Q74.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB95 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535568 E (Exact mapping: the two concepts are equivalent) OMIM:168860 E (Exact mapping: the two concepts are equivalent) UMLS:C1868577 E (Exact mapping: the two concepts are equivalent) Papular mucinosis A group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis. Orphanet ICD-11:EB90.11 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86795 Localized lichen myxedematosus Clinical group ORPHA:86795 ICD-11:EB90.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Intermediate lichen myxedematosus An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. Orphanet ICD-10:L98.5 ICD-11:EB90.11 UMLS:C4510874 Adolescent Adult Elderly Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86797 Atypical lichen myxedematosus ORPHA:86797 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510874 E (Exact mapping: the two concepts are equivalent) Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. Orphanet ICD-10:D55.2 ICD-11:3A10.Y OMIM:615512 UMLS:C0398562 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=868 Triose phosphate-isomerase deficiency ORPHA:868 ICD-10:D55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:615512 E (Exact mapping: the two concepts are equivalent) UMLS:C0398562 E (Exact mapping: the two concepts are equivalent) Autosomal recessive limb-girdle muscular dystrophy type 2K LGMD type 2K LGMD2K Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy-intellectual disability syndrome POMT1-related LGMD R11 A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. Orphanet ICD-10:G71.0 ICD-11:8C70.41 OMIM:609308 UMLS:C1836373 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86812 POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609308 E (Exact mapping: the two concepts are equivalent) UMLS:C1836373 E (Exact mapping: the two concepts are equivalent) Atrophia areata SCRA Sveinsson chorioretinal atrophy Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. Orphanet ICD-10:H31.2 ICD-11:9B70 MeSH:C566236 OMIM:108985 UMLS:C1862382 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86813 Helicoid peripapillary chorioretinal degeneration ORPHA:86813 ICD-10:H31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566236 E (Exact mapping: the two concepts are equivalent) OMIM:108985 E (Exact mapping: the two concepts are equivalent) UMLS:C1862382 E (Exact mapping: the two concepts are equivalent) ADCME Autosomal dominant cortical myoclonus and epilepsy BAFME Benign adult familial myoclonus epilepsy FAME FCMTE Familial adult myoclonic epilepsy Familial cortical myoclonic tremor and epilepsy Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Orphanet ICD-10:G40.3 ICD-11:8A61.32 OMIM:601068 OMIM:607876 OMIM:613608 OMIM:615127 OMIM:615400 UMLS:C4273988 Autosomal dominant All ages Japan AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86814 Benign adult familial myoclonic epilepsy ORPHA:86814 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.32 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601068 E (Exact mapping: the two concepts are equivalent) OMIM:607876 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613608 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615127 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4273988 E (Exact mapping: the two concepts are equivalent) ALSG Congenital absence of lacrimal puncta and salivary glands A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. Orphanet ICD-10:Q10.4 ICD-10:Q38.4 ICD-11:LA14.10 MeSH:C562407 OMIM:180920 UMLS:C0158667 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86815 Aplasia of lacrimal and salivary glands ORPHA:86815 ICD-10:Q10.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q38.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562407 E (Exact mapping: the two concepts are equivalent) OMIM:180920 E (Exact mapping: the two concepts are equivalent) UMLS:C0158667 E (Exact mapping: the two concepts are equivalent) Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). Orphanet ICD-10:R77.0 ICD-11:5D0Y OMIM:616000 UMLS:C4305253 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86816 Congenital analbuminemia ORPHA:86816 ICD-10:R77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616000 E (Exact mapping: the two concepts are equivalent) UMLS:C4305253 E (Exact mapping: the two concepts are equivalent) Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. Orphanet ICD-10:D55.3 ICD-11:3A10.Y MeSH:C567228 OMIM:612631 UMLS:C2675459 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86817 Hemolytic anemia due to adenylate kinase deficiency ORPHA:86817 ICD-10:D55.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567228 E (Exact mapping: the two concepts are equivalent) OMIM:612631 E (Exact mapping: the two concepts are equivalent) UMLS:C2675459 E (Exact mapping: the two concepts are equivalent) AMME complex AMME syndrome ATS-MR A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including <i>COL4A5</i>, <i>FACL4</i> and <i>AMMECR1</i>. Orphanet ICD-10:Q87.8 MeSH:C564570 OMIM:300194 OMIM:300990 UMLS:C1846242 X-linked recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564570 E (Exact mapping: the two concepts are equivalent) OMIM:300194 E (Exact mapping: the two concepts are equivalent) OMIM:300990 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1846242 E (Exact mapping: the two concepts are equivalent) Papular atrichia A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. Orphanet ICD-10:L65.8 ICD-11:EC21.2 MeSH:C565924 OMIM:209500 UMLS:C1859592 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86819 Atrichia with papular lesions ORPHA:86819 ICD-10:L65.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565924 E (Exact mapping: the two concepts are equivalent) OMIM:209500 E (Exact mapping: the two concepts are equivalent) UMLS:C1859592 E (Exact mapping: the two concepts are equivalent) Familial osteonecrosis of the femoral head Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Orphanet ICD-10:M87.8 ICD-11:FB82.1 OMIM:608805 OMIM:617383 UMLS:C4275066 Autosomal dominant Adult United States AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86820 Familial avascular necrosis of femoral head ORPHA:86820 ICD-10:M87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608805 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617383 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4275066 E (Exact mapping: the two concepts are equivalent) Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms). Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:601160 UMLS:C4305255 Autosomal recessive Antenatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601160 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4305255 E (Exact mapping: the two concepts are equivalent) A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:601160 UMLS:C4305254 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:601160 E (Exact mapping: the two concepts are equivalent) UMLS:C4305254 E (Exact mapping: the two concepts are equivalent) LCH Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. Orphanet UMLS:C4274995 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86823 Lissencephaly with cerebellar hypoplasia Clinical group ORPHA:86823 UMLS:C4274995 E (Exact mapping: the two concepts are equivalent) A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur. Orphanet ICD-10:D47.1 ICD-11:2A20.1 MeSH:D015467 UMLS:C0023481 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86829 Chronic neutrophilic leukemia ORPHA:86829 ICD-10:D47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015467 E (Exact mapping: the two concepts are equivalent) UMLS:C0023481 E (Exact mapping: the two concepts are equivalent) CMPD-U Undifferentiated myeloproliferative disease A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features ofmyeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. Orphanet ICD-10:D47.1 ICD-11:2A22 OMIM:131440 UMLS:C4757947 Adult Europe AND has_annual_incidence_average_value : 0.53 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86830 Chronic myeloproliferative disease, unclassifiable ORPHA:86830 ICD-10:D47.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:131440 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4757947 E (Exact mapping: the two concepts are equivalent) JMML Juvenile chronic myelomonocytic leukemia A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly. Orphanet ICD-10:C93.3 ICD-11:2A42 MeSH:D054429 MedDRA:10023249 OMIM:607785 UMLS:C0349639 Not applicable Childhood Infancy Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86834 Juvenile myelomonocytic leukemia ORPHA:86834 ICD-10:C93.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054429 E (Exact mapping: the two concepts are equivalent) MedDRA:10023249 E (Exact mapping: the two concepts are equivalent) OMIM:607785 E (Exact mapping: the two concepts are equivalent) UMLS:C0349639 E (Exact mapping: the two concepts are equivalent) Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages. Orphanet ICD-11:2A34 MedDRA:10067959 UMLS:C0796466 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86836 Refractory cytopenia with multilineage dysplasia Clinical group ORPHA:86836 ICD-11:2A34 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10067959 E (Exact mapping: the two concepts are equivalent) UMLS:C0796466 E (Exact mapping: the two concepts are equivalent) MDS with excess blasts MDS-IB RAEB Refractory anemia with excess blasts Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood. Orphanet ICD-10:D46.2 ICD-11:2A35 MeSH:D000754 MedDRA:10038270 UMLS:C0002894 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86839 Myelodysplastic neoplasm with increased blasts ORPHA:86839 ICD-10:D46.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A35 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000754 E (Exact mapping: the two concepts are equivalent) MedDRA:10038270 E (Exact mapping: the two concepts are equivalent) UMLS:C0002894 E (Exact mapping: the two concepts are equivalent) 5q- syndrome A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients. Orphanet ICD-10:D46.7 ICD-11:2A36 MedDRA:10067096 OMIM:153550 UMLS:C1292779 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality ORPHA:86841 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A36 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10067096 E (Exact mapping: the two concepts are equivalent) OMIM:153550 E (Exact mapping: the two concepts are equivalent) UMLS:C1292779 E (Exact mapping: the two concepts are equivalent) Acute myelodysplasia with myelofibrosis Acute myelofibrosis A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response. Orphanet ICD-10:C94.4 ICD-11:2A60.38 MedDRA:10000879 UMLS:C0334674 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86843 Acute panmyelosis with myelofibrosis ORPHA:86843 ICD-10:C94.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A60.38 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10000879 E (Exact mapping: the two concepts are equivalent) UMLS:C0334674 E (Exact mapping: the two concepts are equivalent) AML with multilineage dysplasia AML with myelodysplasia-related features Acute myeloid leukemia with multilineage dysplasia A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor. Orphanet ICD-10:C92.8 ICD-11:2A60.1 OMIM:601626 UMLS:C1292773 Not applicable Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86845 Acute myeloid leukaemia with myelodysplasia-related features ORPHA:86845 ICD-10:C92.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1292773 E (Exact mapping: the two concepts are equivalent) Secondary AML Secondary acute myeloid leukemia Therapy-related AML and myelodysplastic syndrome ICD-11:2A60.20 OMIM:601626 UMLS:C1292776 All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome Category ORPHA:86846 ICD-11:2A60.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1292776 E (Exact mapping: the two concepts are equivalent) A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis. Orphanet ICD-10:C94.7 ICD-11:2A60.37 MeSH:D015471 UMLS:C0023437 All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86849 Acute basophilic leukemia ORPHA:86849 ICD-10:C94.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.37 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015471 E (Exact mapping: the two concepts are equivalent) UMLS:C0023437 E (Exact mapping: the two concepts are equivalent) Chloroma Extramedullary myeloid tumor Granulocytic sarcoma Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site. Orphanet ICD-10:C92.3 ICD-11:2A60.39 MeSH:D023981 MedDRA:10008583 UMLS:C4721505 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86850 Myeloid sarcoma ORPHA:86850 ICD-10:C92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.39 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D023981 E (Exact mapping: the two concepts are equivalent) MedDRA:10008583 E (Exact mapping: the two concepts are equivalent) UMLS:C4721505 E (Exact mapping: the two concepts are equivalent) Acute leukemia of indeterminate lineage Hybrid acute leukemia Mixed lineage acute leukemia ICD-10:C95.0 ICD-11:2A61 OMIM:601626 UMLS:C1301357 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86851 Acute leukemia of ambiguous lineage Category ORPHA:86851 ICD-10:C95.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1301357 E (Exact mapping: the two concepts are equivalent) B-PLL A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor. Orphanet ICD-10:C91.3 ICD-11:2A82.1 MeSH:D054403 MedDRA:10073480 UMLS:C0475801 Adult Europe AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86852 B-cell prolymphocytic leukemia ORPHA:86852 ICD-10:C91.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A82.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054403 E (Exact mapping: the two concepts are equivalent) MedDRA:10073480 E (Exact mapping: the two concepts are equivalent) UMLS:C0475801 E (Exact mapping: the two concepts are equivalent) SMZL Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated. Orphanet ICD-10:C83.0 ICD-11:2A82.Y ICD-11:XH0MV1 MedDRA:10062113 UMLS:C0349632 Not applicable Adult Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86854 Splenic marginal zone lymphoma ORPHA:86854 ICD-10:C83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A82.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH0MV1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10062113 E (Exact mapping: the two concepts are equivalent) UMLS:C0349632 E (Exact mapping: the two concepts are equivalent) Solitary plasmacytoma Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations. Orphanet ICD-10:C90.2 ICD-10:C90.3 ICD-11:2A83.2 MeSH:D010954 MedDRA:10035484 UMLS:C0032131 Not applicable Adult United States AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86855 Plasmacytoma ORPHA:86855 ICD-10:C90.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C90.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A83.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010954 E (Exact mapping: the two concepts are equivalent) MedDRA:10035484 E (Exact mapping: the two concepts are equivalent) UMLS:C0032131 E (Exact mapping: the two concepts are equivalent) Non-amyloid MIDD Randall disease A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin. Orphanet ICD-10:D89.8 UMLS:C5394673 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86861 Non-amyloid monoclonal immunoglobulin deposition disease ORPHA:86861 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5394673 E (Exact mapping: the two concepts are equivalent) HCD Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. Orphanet ICD-10:C88.2 ICD-10:C88.3 ICD-11:2A84 MeSH:D006362 MedDRA:10019350 UMLS:C0018852 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86864 Heavy chain disease ORPHA:86864 ICD-10:C88.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C88.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A84 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006362 E (Exact mapping: the two concepts are equivalent) MedDRA:10019350 E (Exact mapping: the two concepts are equivalent) UMLS:C0018852 E (Exact mapping: the two concepts are equivalent) NMZL Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported. Orphanet ICD-10:C83.0 ICD-11:2A85.0 MedDRA:10029460 UMLS:C0855139 Not applicable Adolescent Adult Elderly Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86867 Nodal marginal zone B-cell lymphoma ORPHA:86867 ICD-10:C83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A85.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10029460 E (Exact mapping: the two concepts are equivalent) UMLS:C0855139 E (Exact mapping: the two concepts are equivalent) LYG Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. Orphanet ICD-10:C83.8 ICD-11:2A81.3 MeSH:D008230 MedDRA:10025325 UMLS:C0024307 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86869 Lymphomatoid granulomatosis ORPHA:86869 ICD-10:C83.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A81.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008230 E (Exact mapping: the two concepts are equivalent) MedDRA:10025325 E (Exact mapping: the two concepts are equivalent) UMLS:C0024307 E (Exact mapping: the two concepts are equivalent) BPDCN A rare and highly aggressive myeloid malignancy characterized by predominant cutaneous involvement with concomitant or subsequent bone marrow, lymph node and visceral involvement, as well as central nervous system (CNS) disease. It derives from the precursors of plasmacytoid dendritic cells (pDC). Orphanet ICD-10:C86.4 ICD-11:2A60.5 UMLS:C1301363 Not applicable Elderly Europe AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86870 Blastic plasmacytoid dendritic cell neoplasm ORPHA:86870 ICD-10:C86.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A60.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1301363 E (Exact mapping: the two concepts are equivalent) T-PLL T-cell chronic lymphocytic leukemia A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis. Orphanet ICD-10:C91.6 ICD-11:2A90.0 MeSH:D015461 MedDRA:10042985 UMLS:C2363142 Not applicable Adult Elderly Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86871 T-cell prolymphocytic leukemia ORPHA:86871 ICD-10:C91.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015461 E (Exact mapping: the two concepts are equivalent) MedDRA:10042985 E (Exact mapping: the two concepts are equivalent) UMLS:C2363142 E (Exact mapping: the two concepts are equivalent) Proliferation of large granular lymphocytes T-LGL T-cell LGL leukemia T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. Orphanet ICD-10:C91.7 ICD-11:2A90.1 MedDRA:10065862 UMLS:C1955861 Adult Europe AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86872 T-cell large granular lymphocyte leukemia ORPHA:86872 ICD-10:C91.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10065862 E (Exact mapping: the two concepts are equivalent) UMLS:C1955861 E (Exact mapping: the two concepts are equivalent) ANKCL Aggressive NK-cell lymphoma NK-cell LGL leukemia NK-cell large granular lymphocyte leukemia An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation. Orphanet ICD-10:C94.7 ICD-11:2A90.3 MedDRA:10028811 UMLS:C1292777 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86873 Aggressive NK-cell leukemia ORPHA:86873 ICD-10:C94.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10028811 E (Exact mapping: the two concepts are equivalent) UMLS:C1292777 E (Exact mapping: the two concepts are equivalent) ATLL A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor &#945;&#946;. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement. Orphanet ICD-10:C91.5 ICD-11:2A90.5 MeSH:D015459 MedDRA:10001413 UMLS:C0023493 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86875 Adult T-cell leukemia/lymphoma ORPHA:86875 ICD-10:C91.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A90.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015459 E (Exact mapping: the two concepts are equivalent) MedDRA:10001413 E (Exact mapping: the two concepts are equivalent) UMLS:C0023493 E (Exact mapping: the two concepts are equivalent) Angiocentric T-cell lymphoma Lethal midline granuloma NK/T-cell lymphoma NKTCL Nasal T/natural killer-cell lymphoma Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. Orphanet ICD-10:C86.0 ICD-11:2A90.6 MeSH:D054391 MedDRA:10065855 UMLS:C0392788 Multigenic/multifactorial Not applicable Adult France AND has_annual_incidence_average_value : 2.25 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86879 Extranodal nasal NK/T cell lymphoma ORPHA:86879 ICD-10:C86.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054391 E (Exact mapping: the two concepts are equivalent) MedDRA:10065855 E (Exact mapping: the two concepts are equivalent) UMLS:C0392788 E (Exact mapping: the two concepts are equivalent) EATL ETTL Enteropathy-associated T-cell lymphoma type 1 Enteropathy-type T-cell lymphoma Intestinal T-cell lymphoma A rare T-cell non-Hodgkin lymphoma characterized by a neoplasm of intraepithelial T-cells mostly occurring in the jejunum or ileum in patients with celiac disease. The lesion may be multifocal and form ulcerating nodules, plaques, strictures, or an exophytic mass. The mesentery and mesenteric lymph nodes are commonly involved. Patients typically present with abdominal pain, malabsorption or diarrhea, anorexia, weight loss, fatigue, nausea, vomiting, and sometimes intestinal perforation or hemorrhage. Prognosis is generally poor. Orphanet ICD-10:C86.2 ICD-11:2A90.7 MeSH:D058527 MedDRA:10022703 UMLS:C0456889 Not applicable Adult Netherlands AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.0111 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86880 Enteropathy-associated T-cell lymphoma ORPHA:86880 ICD-10:C86.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D058527 E (Exact mapping: the two concepts are equivalent) MedDRA:10022703 E (Exact mapping: the two concepts are equivalent) UMLS:C0456889 E (Exact mapping: the two concepts are equivalent) A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with hepatosplenomegaly, pancytopenia, and systemic symptoms. Peripheral blood involvement may develop later in the disease course. There is a clear male preponderance. The disease often occurs in the context of long-term immunosuppression. The course is aggressive with poor therapy response. Orphanet ICD-10:C86.1 ICD-11:2A90.8 MedDRA:10066957 UMLS:C1333984 Not applicable Adolescent Adult United States AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86882 Hepatosplenic T-cell lymphoma ORPHA:86882 ICD-10:C86.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066957 E (Exact mapping: the two concepts are equivalent) UMLS:C1333984 E (Exact mapping: the two concepts are equivalent) SPTCL Subcutaneous panniculitic T-cell lymphoma A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis. Orphanet ICD-10:C86.3 ICD-11:2B00 MeSH:C537503 OMIM:618398 UMLS:C0522624 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86884 Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884 ICD-10:C86.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537503 E (Exact mapping: the two concepts are equivalent) OMIM:618398 E (Exact mapping: the two concepts are equivalent) UMLS:C0522624 E (Exact mapping: the two concepts are equivalent) Primary cutaneous peripheral T-cell lymphoma NOS Primary cutaneous unspecified peripheral T-cell lymphoma An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated. Orphanet ICD-10:C84.4 ICD-11:2A90.C MeSH:D016411 MedDRA:10034623 UMLS:C0079774 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885 ICD-10:C84.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A90.C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016411 E (Exact mapping: the two concepts are equivalent) MedDRA:10034623 E (Exact mapping: the two concepts are equivalent) UMLS:C0079774 E (Exact mapping: the two concepts are equivalent) AILT Immunoblastic lymphadenopathy Lymphogranulomatosis X T-cell lymphoma, AILD type A rare T-cell non-Hodgkin lymphoma characterized by infiltration of lymph nodes by neoplastic cells of T follicular helper cell origin with a polymorphous inflammatory background including markedly increased follicular dendritic cells and EBV-positive B-cells, as well as prominent proliferation of high endothelial venules. The spleen, liver, skin, and bone marrow are also frequently involved. Patients typically present with generalized lymphadenopathy, hepatosplenomegaly, systemic symptoms, and polyclonal hypergammaglobulinemia. Pruritic skin rash, arthritis, pleural effusion, and ascites may also be observed. The condition is aggressive with generally poor prognosis. Orphanet ICD-10:C86.5 ICD-11:2A90.9 MedDRA:10002449 UMLS:C0020981 Not applicable Adult United States AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86886 Angioimmunoblastic T-cell lymphoma ORPHA:86886 ICD-10:C86.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002449 E (Exact mapping: the two concepts are equivalent) UMLS:C0020981 E (Exact mapping: the two concepts are equivalent) NLPHL Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells. Orphanet ICD-10:C81.0 ICD-11:2B30.0 MedDRA:10080201 UMLS:C1334968 Unknown All ages Austria AND has_annual_incidence_average_value : 0.041 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.099 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.095 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.285 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.097 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.124 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.133 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.226 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.013 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.056 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.135 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.092 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86893 Nodular lymphocyte predominant Hodgkin lymphoma ORPHA:86893 ICD-10:C81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B30.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10080201 E (Exact mapping: the two concepts are equivalent) UMLS:C1334968 E (Exact mapping: the two concepts are equivalent) A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a skin rash or numerous tumors on the trunk and extremities, lytic bone lesions, hepatosplenomegaly with pancytopenia, intestinal obstruction, and/or systemic symptoms. The neoplasm is aggressive with typically poor therapy response. Orphanet ICD-10:C96.8 ICD-11:2B31.1 MeSH:D054747 MedDRA:10076876 UMLS:C0334663 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86896 Histiocytic sarcoma ORPHA:86896 ICD-10:C96.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B31.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054747 E (Exact mapping: the two concepts are equivalent) MedDRA:10076876 E (Exact mapping: the two concepts are equivalent) UMLS:C0334663 E (Exact mapping: the two concepts are equivalent) A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor. Orphanet ICD-10:C96.4 ICD-11:2B31.3 MeSH:D054752 MedDRA:10078782 UMLS:C1260327 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86897 Langerhans cell sarcoma ORPHA:86897 ICD-10:C96.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2B31.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054752 E (Exact mapping: the two concepts are equivalent) MedDRA:10078782 E (Exact mapping: the two concepts are equivalent) UMLS:C1260327 E (Exact mapping: the two concepts are equivalent) 2A syndrome 3A syndrome 4A syndrome AAA syndrome Achalasia-addisonianism-alacrima syndrome Adrenal insufficiency-achalasia-alacrima syndrome Allgrove syndrome Double A syndrome Quaternary A syndrome Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. Orphanet ICD-10:E27.4 ICD-11:5A74.Y MeSH:C536008 MedDRA:10073592 OMIM:231550 OMIM:615510 UMLS:C0271742 Autosomal recessive All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=869 Triple A syndrome ORPHA:869 ICD-10:E27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536008 E (Exact mapping: the two concepts are equivalent) MedDRA:10073592 E (Exact mapping: the two concepts are equivalent) OMIM:231550 E (Exact mapping: the two concepts are equivalent) OMIM:615510 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0271742 E (Exact mapping: the two concepts are equivalent) Interdigitating cell sarcoma Reticulum cell sarcoma A rare dendritic cell tumor characterized by a neoplasm composed of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. Solitary lymph node involvement is common, although extranodal localization (in particular skin and soft tissue) has also been reported. Patients usually present with an asymptomatic mass, sometimes with systemic symptoms such as fatigue, fever, and night sweats. Generalized lymphadenopathy, splenomegaly, or hepatomegaly may be seen in rare cases. The clinical course is generally aggressive. Orphanet ICD-10:C96.4 ICD-11:2B31.4 MeSH:D054739 MedDRA:10038804 OMIM:267730 UMLS:C1260326 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86900 Interdigitating dendritic cell sarcoma ORPHA:86900 ICD-10:C96.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2B31.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054739 E (Exact mapping: the two concepts are equivalent) MedDRA:10038804 E (Exact mapping: the two concepts are equivalent) OMIM:267730 E (Exact mapping: the two concepts are equivalent) UMLS:C1260326 E (Exact mapping: the two concepts are equivalent) A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia. Orphanet ICD-10:C96.4 ICD-11:2B31.5 MeSH:D054740 MedDRA:10075332 UMLS:C1260325 All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86902 Follicular dendritic cell sarcoma ORPHA:86902 ICD-10:C96.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2B31.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054740 E (Exact mapping: the two concepts are equivalent) MedDRA:10075332 E (Exact mapping: the two concepts are equivalent) UMLS:C1260325 E (Exact mapping: the two concepts are equivalent) A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable. Orphanet ICD-10:C96.4 ICD-11:2B31.Y ICD-11:XH8Q19 UMLS:C1301364 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86903 Dendritic cell sarcoma not otherwise specified ORPHA:86903 ICD-10:C96.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH8Q19 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1301364 E (Exact mapping: the two concepts are equivalent) MTX-LPD MTX-associated lymphoproliferative disorders Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. Orphanet ICD-10:D47.7 ICD-11:2B32.Y UMLS:C1334749 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86904 Methotrexate-associated lymphoproliferative disorders ORPHA:86904 ICD-10:D47.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B32.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1334749 E (Exact mapping: the two concepts are equivalent) Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. Orphanet ICD-10:G40.5 UMLS:C4707883 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86906 Hypothalamic hamartomas with gelastic seizures ORPHA:86906 ICD-10:G40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707883 E (Exact mapping: the two concepts are equivalent) HHE HHE syndrome IHHS A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory. Orphanet ICD-10:G40.4 ICD-11:8A62.Y MedDRA:10085010 UMLS:C0549118 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86908 Hemiconvulsion-hemiplegia-epilepsy syndrome ORPHA:86908 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10085010 E (Exact mapping: the two concepts are equivalent) UMLS:C0549118 E (Exact mapping: the two concepts are equivalent) Benign myoclonic epilepsy of infancy Benign myoclonus epilepsy of infancy A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients. Orphanet ICD-10:G40.3 ICD-11:8A61.1Y UMLS:C0751120 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 106.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86909 Myoclonic epilepsy of infancy ORPHA:86909 ICD-10:G40.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0751120 E (Exact mapping: the two concepts are equivalent) A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders. Orphanet ICD-10:G40.4 ICD-11:8A61.23 UMLS:C0393703 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86911 Epilepsy with myoclonic absences ORPHA:86911 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.23 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0393703 E (Exact mapping: the two concepts are equivalent) Myoclonic status in non-progressive encephalopathies Myoclonus epilepsy in non-progressive encephalopathies A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances. Orphanet ICD-10:G40.4 UMLS:C4755298 Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86913 Myoclonic epilepsy in non-progressive encephalopathies ORPHA:86913 ICD-10:G40.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4755298 E (Exact mapping: the two concepts are equivalent) Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q28.3 OMIM:152900 UMLS:C4302917 Adolescent Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome ORPHA:86914 ICD-10:Q28.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:152900 E (Exact mapping: the two concepts are equivalent) UMLS:C4302917 E (Exact mapping: the two concepts are equivalent) Irons-Bhan syndrome Irons-Bianchi syndrome Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Orphanet ICD-10:Q87.8 ICD-11:BD93.0 MeSH:C567398 OMIM:601927 UMLS:C2677167 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86915 Lymphedema-atrial septal defects-facial changes syndrome ORPHA:86915 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567398 E (Exact mapping: the two concepts are equivalent) OMIM:601927 E (Exact mapping: the two concepts are equivalent) UMLS:C2677167 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary lymphedema OBSOLETE: Lymphedema-cleft palate syndrome ORPHA:86917 Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. Orphanet ICD-10:Q82.8 UMLS:C4303588 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome ORPHA:86918 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4303588 E (Exact mapping: the two concepts are equivalent) Palmoplantar keratoderma-clinodactyly syndrome Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. Orphanet ICD-10:Q82.8 OMIM:148520 UMLS:C4510514 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86919 Keratosis palmaris et plantaris-clinodactyly syndrome ORPHA:86919 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:148520 E (Exact mapping: the two concepts are equivalent) UMLS:C4510514 E (Exact mapping: the two concepts are equivalent) A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis. Orphanet ICD-10:Q82.4 MeSH:C535374 OMIM:125595 UMLS:C0406778 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86920 Dermatopathia pigmentosa reticularis ORPHA:86920 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535374 E (Exact mapping: the two concepts are equivalent) OMIM:125595 E (Exact mapping: the two concepts are equivalent) UMLS:C0406778 E (Exact mapping: the two concepts are equivalent) Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type PPK, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive. Orphanet ICD-10:Q82.8 ICD-11:EC20.3 OMIM:244850 UMLS:C4273986 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type ORPHA:86923 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:244850 E (Exact mapping: the two concepts are equivalent) UMLS:C4273986 E (Exact mapping: the two concepts are equivalent) ACS1 Acrocephalosyndactyly type 1 A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. Orphanet ICD-10:Q87.0 ICD-11:LD24.G2 MedDRA:10002943 OMIM:101200 UMLS:C0001193 Autosomal dominant Antenatal Neonatal Australia AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 1.47 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 1.47 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown Spain AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=87 Apert syndrome ORPHA:87 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.G2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002943 E (Exact mapping: the two concepts are equivalent) OMIM:101200 E (Exact mapping: the two concepts are equivalent) UMLS:C0001193 E (Exact mapping: the two concepts are equivalent) Trisomy 21 A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects. Orphanet ICD-10:Q90.0 ICD-10:Q90.1 ICD-10:Q90.2 ICD-10:Q90.9 ICD-11:LD40.0 MeSH:D004314 MedDRA:10044688 OMIM:190685 UMLS:C0013080 Not applicable Antenatal Neonatal Belgium AND has_birth_prevalence_average_value : 70.0 AND has_birth_prevalence_range : 6-9 / 10 000 Croatia AND has_birth_prevalence_average_value : 44.0 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 59.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 101.0 AND has_birth_prevalence_range : >1 / 1000 Europe AND has_point_prevalence_average_value : 57.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 63.7 AND has_birth_prevalence_range : 6-9 / 10 000 Germany AND has_birth_prevalence_average_value : 98.3 AND has_birth_prevalence_range : 6-9 / 10 000 Hungary AND has_birth_prevalence_average_value : 75.0 AND has_birth_prevalence_range : 6-9 / 10 000 Ireland AND has_birth_prevalence_average_value : 235.0 AND has_birth_prevalence_range : >1 / 1000 Italy AND has_birth_prevalence_average_value : 74.0 AND has_birth_prevalence_range : 6-9 / 10 000 Japan AND has_birth_prevalence_average_value : 174.0 AND has_birth_prevalence_range : >1 / 1000 Netherlands AND has_birth_prevalence_average_value : 91.2 AND has_birth_prevalence_range : 6-9 / 10 000 Norway AND has_birth_prevalence_average_value : 110.0 AND has_birth_prevalence_range : >1 / 1000 Poland AND has_birth_prevalence_average_value : 66.0 AND has_birth_prevalence_range : 6-9 / 10 000 Portugal AND has_birth_prevalence_average_value : 38.0 AND has_birth_prevalence_range : 1-5 / 10 000 South Africa AND has_birth_prevalence_average_value : 130.0 AND has_birth_prevalence_range : >1 / 1000 Spain AND has_birth_prevalence_average_value : 69.0 AND has_birth_prevalence_range : 6-9 / 10 000 Switzerland AND has_birth_prevalence_average_value : 98.0 AND has_birth_prevalence_range : 6-9 / 10 000 Ukraine AND has_birth_prevalence_average_value : 100.0 AND has_birth_prevalence_range : >1 / 1000 United Kingdom AND has_birth_prevalence_average_value : 91.6 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 66.0 AND has_point_prevalence_range : 6-9 / 10 000 United States AND has_birth_prevalence_average_value : 126.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_birth_prevalence_average_value : 95.0 AND has_birth_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=870 Down syndrome ORPHA:870 ICD-10:Q90.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q90.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q90.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q90.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD40.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004314 E (Exact mapping: the two concepts are equivalent) MedDRA:10044688 E (Exact mapping: the two concepts are equivalent) OMIM:190685 E (Exact mapping: the two concepts are equivalent) UMLS:C0013080 E (Exact mapping: the two concepts are equivalent) Familial Lenègre disease Familial Lev disease Familial Lev-Lenègre disease Familial PCCD Familial progressive heart block Hereditary bundle branch defect A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. Orphanet ICD-10:I45.8 ICD-11:BC63.Y MeSH:C566873 OMIM:113900 OMIM:115080 OMIM:140400 OMIM:604559 OMIM:612838 UMLS:C1879286 Autosomal dominant Adult Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=871 Familial progressive cardiac conduction defect ORPHA:871 ICD-10:I45.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC63.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566873 E (Exact mapping: the two concepts are equivalent) OMIM:113900 E (Exact mapping: the two concepts are equivalent) OMIM:115080 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:140400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604559 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612838 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1879286 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare thyroid disease OBSOLETE: Disorder in the hormonal synthesis with or without goiter ORPHA:872 UMLS:C5681429 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=87277 Rare intellectual disability Category ORPHA:87277 UMLS:C5681429 E (Exact mapping: the two concepts are equivalent) Aggressive fibromatosis Desmoid type fibromatosis A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. Orphanet ICD-10:D48.1 OMIM:135290 UMLS:C0079218 Not applicable Unknown Adolescent Adult Europe AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=873 Desmoid tumor ORPHA:873 ICD-10:D48.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:135290 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0079218 E (Exact mapping: the two concepts are equivalent) Adult cardiac tumor Adult heart tumor A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma. Orphanet ICD-10:C38.0 ICD-10:D15.1 ICD-11:2F01 UMLS:C4275152 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=874 Primary adult heart tumor ORPHA:874 ICD-10:C38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275152 E (Exact mapping: the two concepts are equivalent) Cardiac tumor of child Heart tumor of child Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Orphanet ICD-10:C38.0 ICD-10:D15.1 ICD-11:2F01 UMLS:C4274356 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=875 Primary pediatric heart tumor ORPHA:875 ICD-10:C38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274356 E (Exact mapping: the two concepts are equivalent) Keratosis palmoplantaris transgrediens of Siemens Meleda disease Transgrediens palmoplantar keratoderma of Siemens A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. Orphanet ICD-10:Q82.8 ICD-11:EC20.30 OMIM:248300 UMLS:C0025221 Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=87503 Mal de Meleda ORPHA:87503 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:248300 E (Exact mapping: the two concepts are equivalent) UMLS:C0025221 E (Exact mapping: the two concepts are equivalent) Endodermal sinus tumor A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding. Orphanet ICD-10:C56 ICD-10:C62.9 ICD-11:2C73.Y ICD-11:2F34 ICD-11:XH09W7 MeSH:D018240 MedDRA:10048251 OMIM:273300 UMLS:C0014145 Not applicable Adolescent Adult Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=876 Yolk sac tumor ORPHA:876 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:C62.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F34 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH09W7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018240 E (Exact mapping: the two concepts are equivalent) MedDRA:10048251 E (Exact mapping: the two concepts are equivalent) OMIM:273300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0014145 E (Exact mapping: the two concepts are equivalent) A group of rare tumors characterized by predominantly neuroendocrine differentiation, potentially arising in most organs of the body, including the central nervous system, respiratory tract, larynx, gastrointestinal tract, thyroid, skin, breast, and urogenital system. The gastrointestinal tract and lungs are the most common primary tumor sites. Based on clinical behavior, histology, and proliferation rate, the tumors may be categorized as well differentiated (low grade to intermediate grade) neuroendocrine tumors and poorly differentiated (high grade) neuroendocrine carcinomas. They may or may not be associated with clinical hormone hypersecretion syndromes. Orphanet MeSH:D018358 MedDRA:10052399 UMLS:C0206754 Unknown Adult Europe AND has_annual_incidence_average_value : 2.53 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 5.25 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 35.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=877 Neuroendocrine neoplasm Category ORPHA:877 MeSH:D018358 E (Exact mapping: the two concepts are equivalent) MedDRA:10052399 E (Exact mapping: the two concepts are equivalent) UMLS:C0206754 E (Exact mapping: the two concepts are equivalent) Infantile dysmorphic sialidosis Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. Orphanet ICD-10:E77.1 ICD-11:5C56.21 OMIM:256150 OMIM:256550 UMLS:C3888317 Autosomal recessive Antenatal Childhood Infancy Neonatal Europe AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=87876 Sialidosis type 2 ORPHA:87876 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:256150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:256550 E (Exact mapping: the two concepts are equivalent) UMLS:C3888317 E (Exact mapping: the two concepts are equivalent) Isolated genetic deafness Isolated genetic hearing loss Non-syndromic genetic hearing loss Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. Orphanet ICD-10:H90.5 ICD-11:AB50 UMLS:C5680182 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=87884 Non-syndromic genetic deafness ORPHA:87884 ICD-10:H90.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:AB50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680182 E (Exact mapping: the two concepts are equivalent) Tungiasis is a parasitic skin disease caused by the female sand flea <i>Tunga penetrans</i>. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails. Orphanet ICD-10:B88.1 ICD-11:1G05 MeSH:D058285 UMLS:C0277356 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=879 Tungiasis ORPHA:879 ICD-10:B88.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1G05 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D058285 E (Exact mapping: the two concepts are equivalent) UMLS:C0277356 E (Exact mapping: the two concepts are equivalent) Idiopathic bone marrow failure ICD-10:D61.3 ICD-11:3A70.12 MeSH:C538494 MedDRA:10054580 OMIM:609135 OMIM:614742 OMIM:614743 UMLS:C0348890 Unknown Adult Brazil AND has_annual_incidence_average_value : 0.27 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88 Idiopathic aplastic anemia ORPHA:88 ICD-10:D61.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A70.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538494 E (Exact mapping: the two concepts are equivalent) MedDRA:10054580 E (Exact mapping: the two concepts are equivalent) OMIM:609135 E (Exact mapping: the two concepts are equivalent) OMIM:614742 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614743 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0348890 E (Exact mapping: the two concepts are equivalent) 45,X syndrome 45,X/46,XX syndrome A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities. Orphanet ICD-10:Q96.0 ICD-10:Q96.1 ICD-10:Q96.2 ICD-10:Q96.3 ICD-10:Q96.4 ICD-10:Q96.8 ICD-10:Q96.9 ICD-11:LD50.0 MeSH:D014424 MedDRA:10045181 UMLS:C0041408 Not applicable Unknown Antenatal Childhood Infancy Neonatal Austria AND has_birth_prevalence_average_value : 7.5 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 7.9 AND has_birth_prevalence_range : 1-9 / 100 000 Bulgaria AND has_birth_prevalence_average_value : 10.5 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 10.4 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 70.0 AND has_birth_prevalence_range : 6-9 / 10 000 Malta AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Singapore AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 22.4 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 10.1 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=881 Turner syndrome ORPHA:881 ICD-10:Q96.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD50.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014424 E (Exact mapping: the two concepts are equivalent) MedDRA:10045181 E (Exact mapping: the two concepts are equivalent) UMLS:C0041408 E (Exact mapping: the two concepts are equivalent) FAH deficiency Fumarylacetoacetase deficiency Fumarylacetoacetate hydrolase deficiency Hepatorenal tyrosinemia Tyrosinemia type I A rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. Orphanet ICD-10:E70.2 ICD-11:5C50.11 MedDRA:10069462 OMIM:276700 UMLS:C0268490 Autosomal recessive All ages Europe AND has_point_prevalence_range : Unknown Finland AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 54.0 AND has_birth_prevalence_range : 1-5 / 10 000 Specific population AND has_birth_prevalence_average_value : 6.25 AND has_birth_prevalence_range : 1-9 / 100 000 Tunisia AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=882 Tyrosinemia type 1 ORPHA:882 ICD-10:E70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C50.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10069462 E (Exact mapping: the two concepts are equivalent) OMIM:276700 E (Exact mapping: the two concepts are equivalent) UMLS:C0268490 E (Exact mapping: the two concepts are equivalent) Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor. Orphanet ICD-10:D48.7 MeSH:D013724 MedDRA:10043276 UMLS:C4708601 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=883 Extragonadal teratoma ORPHA:883 ICD-10:D48.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D013724 E (Exact mapping: the two concepts are equivalent) MedDRA:10043276 E (Exact mapping: the two concepts are equivalent) UMLS:C4708601 E (Exact mapping: the two concepts are equivalent) Isochromosome 12p mosaicism Isochromosome 12p syndrome Pallister-Killian syndrome Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. Orphanet ICD-10:Q99.8 ICD-11:LD7Y MeSH:C538105 MedDRA:10080297 OMIM:601803 UMLS:C0265449 Not applicable Unknown Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=884 Tetrasomy 12p syndrome ORPHA:884 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538105 E (Exact mapping: the two concepts are equivalent) MedDRA:10080297 E (Exact mapping: the two concepts are equivalent) OMIM:601803 E (Exact mapping: the two concepts are equivalent) UMLS:C0265449 E (Exact mapping: the two concepts are equivalent) Retinitis pigmentosa-deafness syndrome Retinitis pigmentosa-hearing loss syndrome USH A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction. Orphanet ICD-10:H35.5 ICD-11:LD2H.4 MeSH:D052245 MedDRA:10063396 OMIM:276900 OMIM:276901 OMIM:276902 OMIM:276904 OMIM:500004 OMIM:601067 OMIM:602083 OMIM:602097 OMIM:605472 OMIM:606943 OMIM:611383 OMIM:612632 OMIM:614504 OMIM:614869 OMIM:614990 UMLS:C0271097 Autosomal recessive Childhood Infancy Neonatal Colombia AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 6.2 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 6.2 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.53 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=886 Usher syndrome ORPHA:886 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D052245 E (Exact mapping: the two concepts are equivalent) MedDRA:10063396 E (Exact mapping: the two concepts are equivalent) OMIM:276900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:276901 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:276902 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:276904 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:500004 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601067 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602083 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602097 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605472 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606943 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611383 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612632 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614504 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614869 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614990 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0271097 E (Exact mapping: the two concepts are equivalent) AR-NSID NS-ARID ICD-10:F70 ICD-10:F71 ICD-10:F72 ICD-10:F73 ICD-11:LD90.Y OMIM:249500 OMIM:607417 OMIM:608443 OMIM:611090 OMIM:611091 OMIM:611092 OMIM:611093 OMIM:611095 OMIM:611096 OMIM:611097 OMIM:611107 OMIM:613192 OMIM:614020 OMIM:614202 OMIM:614208 OMIM:614249 OMIM:614329 OMIM:614333 OMIM:614340 OMIM:614341 OMIM:614342 OMIM:614343 OMIM:614344 OMIM:614345 OMIM:614346 OMIM:614347 OMIM:614499 OMIM:615802 OMIM:615817 OMIM:615942 OMIM:615979 OMIM:616116 OMIM:616193 OMIM:616460 OMIM:616739 OMIM:616887 OMIM:617028 OMIM:617125 OMIM:617188 OMIM:617709 OMIM:617816 OMIM:618109 OMIM:618221 OMIM:618402 OMIM:618687 OMIM:619931 OMIM:619988 UMLS:C5680181 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88616 Autosomal recessive non-syndromic intellectual disability Etiological subtype ORPHA:88616 ICD-10:F70 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F71 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F72 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F73 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:249500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607417 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608443 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611092 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611093 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611095 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611096 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611097 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611107 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613192 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614020 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614202 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614208 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614249 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614329 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614333 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614340 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614341 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614342 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614343 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614344 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614345 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614346 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614347 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614499 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615802 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615817 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615942 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615979 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616116 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616193 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616460 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616739 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617028 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617125 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617188 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617709 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617816 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618109 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618221 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618402 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618687 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619931 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619988 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680181 E (Exact mapping: the two concepts are equivalent) A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already <i>in utero</i> or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients. Orphanet ICD-10:E72.1 ICD-11:5C50.B OMIM:613752 UMLS:C3151058 Autosomal recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88618 S-adenosylhomocysteine hydrolase deficiency ORPHA:88618 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613752 E (Exact mapping: the two concepts are equivalent) UMLS:C3151058 E (Exact mapping: the two concepts are equivalent) ADANE Recurrent acute necrotizing encephalopathy Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. Orphanet ICD-10:G93.4 OMIM:608033 UMLS:C4509836 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 14.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88619 Familial acute necrotizing encephalopathy ORPHA:88619 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608033 E (Exact mapping: the two concepts are equivalent) UMLS:C4509836 E (Exact mapping: the two concepts are equivalent) A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. Orphanet ICD-10:Q07.8 ICD-11:CA0Y MeSH:C535983 OMIM:107200 UMLS:C0393778 Autosomal dominant X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88620 Isolated congenital anosmia ORPHA:88620 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535983 E (Exact mapping: the two concepts are equivalent) OMIM:107200 E (Exact mapping: the two concepts are equivalent) UMLS:C0393778 E (Exact mapping: the two concepts are equivalent) Congenital ichthyosis type 4 IPS A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. Orphanet ICD-10:Q80.8 ICD-11:LD27.2 MeSH:C536271 OMIM:608649 UMLS:C1837610 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88621 Ichthyosis-prematurity syndrome ORPHA:88621 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536271 E (Exact mapping: the two concepts are equivalent) OMIM:608649 E (Exact mapping: the two concepts are equivalent) UMLS:C1837610 E (Exact mapping: the two concepts are equivalent) Autosomal recessive posterior column ataxia and retinitis pigmentosa PCARP Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. Orphanet ICD-10:G11.1 MeSH:C536343 OMIM:609033 UMLS:C1836916 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88628 Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536343 E (Exact mapping: the two concepts are equivalent) OMIM:609033 E (Exact mapping: the two concepts are equivalent) UMLS:C1836916 E (Exact mapping: the two concepts are equivalent) Blue colour blindness Congenital tritanopia Tritan colour blindness A rare form of colour blindness characterized by a selective deficiency of blue vision. Orphanet ICD-10:H53.5 ICD-11:9D44 OMIM:190900 UMLS:C0155017 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_average_value : 4.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88629 Tritanopia ORPHA:88629 ICD-10:H53.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9D44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:190900 E (Exact mapping: the two concepts are equivalent) UMLS:C0155017 E (Exact mapping: the two concepts are equivalent) Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. Orphanet ICD-10:Q87.2 ICD-11:LD24.8Y OMIM:300244 UMLS:C4509953 X-linked dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88630 Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300244 E (Exact mapping: the two concepts are equivalent) UMLS:C4509953 E (Exact mapping: the two concepts are equivalent) Anterior segment dysgenesis ICD-11:LA11 MeSH:C537775 OMIM:107250 OMIM:617315 OMIM:617319 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88632 Anterior segment developmental anomaly Category ORPHA:88632 ICD-11:LA11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537775 E (Exact mapping: the two concepts are equivalent) OMIM:107250 E (Exact mapping: the two concepts are equivalent) OMIM:617315 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617319 BTNT (ORPHAcode is broader than the targeted code used to represent it) SLK Theodore superior limbic keratoconjunctivitis Theodore syndrome A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others. Orphanet ICD-10:H16.2 MedDRA:10078410 UMLS:C0339229 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88633 Superior limbic keratoconjunctivitis ORPHA:88633 ICD-10:H16.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10078410 E (Exact mapping: the two concepts are equivalent) UMLS:C0339229 E (Exact mapping: the two concepts are equivalent) Myopathy due to calsequestrin and SERCA1 protein overload Vacuolar aggregate myopathy A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. Orphanet ICD-10:G71.8 ICD-11:8C7Y OMIM:616231 UMLS:C4510368 Autosomal dominant Unknown Adult Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates ORPHA:88635 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616231 E (Exact mapping: the two concepts are equivalent) UMLS:C4510368 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial thoracic aortic aneurysm and aortic dissection Aortic dilatation-joint hypermobility-arterial tortuosity syndrome ORPHA:88636 4H syndrome ICD-10:G11.1 ICD-11:8A44.3 MeSH:C567313 OMIM:607694 OMIM:614381 OMIM:616494 UMLS:C2676243 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Clinical subtype ORPHA:88637 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567313 E (Exact mapping: the two concepts are equivalent) OMIM:607694 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:614381 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616494 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2676243 E (Exact mapping: the two concepts are equivalent) HIBCH deficiency Methacrylic aciduria Valine metabolic defect Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C562803 OMIM:250620 UMLS:C0342738 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ORPHA:88639 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562803 E (Exact mapping: the two concepts are equivalent) OMIM:250620 E (Exact mapping: the two concepts are equivalent) UMLS:C0342738 E (Exact mapping: the two concepts are equivalent) SCN9A-related congenital insensitivity to pain A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. Orphanet ICD-10:G60.8 OMIM:243000 UMLS:C5680180 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy ORPHA:88642 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:243000 E (Exact mapping: the two concepts are equivalent) UMLS:C5680180 E (Exact mapping: the two concepts are equivalent) Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Orphanet ICD-10:E03.8 UMLS:C4302879 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome ORPHA:88643 ICD-10:E03.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4302879 E (Exact mapping: the two concepts are equivalent) ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several <i<SYNE1</i> gene mutations. Orphanet ICD-10:G11.2 MeSH:C579934 OMIM:610743 UMLS:C3683483 Autosomal recessive Adult Worldwide AND has_cases/families_value : 57.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88644 Autosomal recessive ataxia, Beauce type ORPHA:88644 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C579934 E (Exact mapping: the two concepts are equivalent) OMIM:610743 E (Exact mapping: the two concepts are equivalent) UMLS:C3683483 E (Exact mapping: the two concepts are equivalent) A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported. Orphanet ICD-10:I15.1 ICD-11:BA04.Y OMIM:161900 UMLS:C3839782 Autosomal dominant Adult Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88659 Autosomal dominant progressive nephropathy with hypertension ORPHA:88659 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:161900 E (Exact mapping: the two concepts are equivalent) UMLS:C3839782 E (Exact mapping: the two concepts are equivalent) Early-onset hypertension with exacerbation in pregnancy Pseudohyperaldosteronism type 2 A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy. Orphanet ICD-10:I15.1 ICD-11:BA04.Y UMLS:C4707886 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor ORPHA:88660 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707886 E (Exact mapping: the two concepts are equivalent) A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. Orphanet ICD-10:K00.5 ICD-11:LA30.6 MeSH:D000567 OMIM:104500 OMIM:104510 OMIM:104530 OMIM:130900 OMIM:204650 OMIM:204700 OMIM:301200 OMIM:301201 OMIM:612529 OMIM:613211 OMIM:614832 OMIM:615887 OMIM:616221 OMIM:616270 OMIM:617217 OMIM:620104 UMLS:C0002452 Autosomal dominant Autosomal recessive X-linked dominant Infancy Neonatal India AND has_point_prevalence_average_value : 90.0 AND has_point_prevalence_range : 6-9 / 10 000 Sweden AND has_point_prevalence_average_value : 142.0 AND has_point_prevalence_range : >1 / 1000 United States AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88661 Amelogenesis imperfecta ORPHA:88661 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA30.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000567 E (Exact mapping: the two concepts are equivalent) OMIM:104500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:104510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:104530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:130900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:204650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:204700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301201 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612529 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613211 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614832 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616221 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617217 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620104 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0002452 E (Exact mapping: the two concepts are equivalent) HCC Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. Orphanet ICD-10:C22.0 ICD-11:2C12.02 MeSH:D006528 MedDRA:10049010 OMIM:114550 UMLS:C2239176 Not applicable All ages Africa AND has_annual_incidence_average_value : 16.0 AND has_annual_incidence_range : 1-5 / 10 000 Austria AND has_annual_incidence_average_value : 5.296 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 2.275 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 1.697 AND has_annual_incidence_range : 1-9 / 100 000 Canada AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 China AND has_annual_incidence_average_value : 35.0 AND has_annual_incidence_range : 1-5 / 10 000 Croatia AND has_annual_incidence_average_value : 2.762 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 2.979 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 1.487 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 3.221 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 3.382 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 6.264 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 5.129 AND has_annual_incidence_range : 1-9 / 100 000 Greece AND has_annual_incidence_average_value : 15.0 AND has_annual_incidence_range : 1-5 / 10 000 Iceland AND has_annual_incidence_average_value : 1.278 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 1.045 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 9.266 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 29.0 AND has_annual_incidence_range : 1-5 / 10 000 Korea, Republic of AND has_annual_incidence_average_value : 49.0 AND has_annual_incidence_range : 1-5 / 10 000 Latin America AND has_annual_incidence_average_value : 12.5 AND has_annual_incidence_range : 1-5 / 10 000 Latvia AND has_annual_incidence_average_value : 1.933 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 1.146 AND has_annual_incidence_range : 1-9 / 100 000 Mongolia AND has_annual_incidence_average_value : 99.0 AND has_annual_incidence_range : 6-9 / 10 000 Netherlands AND has_annual_incidence_average_value : 1.127 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.627 AND has_annual_incidence_range : 1-9 / 100 000 Oceania AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.925 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 2.345 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 2.762 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 5.212 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 6.649 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 2.106 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 6.2 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88673 Hepatocellular carcinoma Clinical group ORPHA:88673 ICD-10:C22.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C12.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006528 E (Exact mapping: the two concepts are equivalent) MedDRA:10049010 E (Exact mapping: the two concepts are equivalent) OMIM:114550 E (Exact mapping: the two concepts are equivalent) UMLS:C2239176 E (Exact mapping: the two concepts are equivalent) VACTERL association VATER association Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association A rare multiple congenital anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. Orphanet ICD-10:Q87.2 ICD-11:LD2F.11 OMIM:192350 UMLS:C4225671 Not applicable Neonatal Europe AND has_birth_prevalence_average_value : 6.25 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=887 VACTERL/VATER association ORPHA:887 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:192350 E (Exact mapping: the two concepts are equivalent) UMLS:C4225671 E (Exact mapping: the two concepts are equivalent) Cleft lip/palate with mucous cysts of lower lip Lip-pit syndrome VWS Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. Orphanet ICD-10:Q38.0 ICD-11:LD2F.1Y MeSH:C536528 OMIM:119300 OMIM:604547 OMIM:606713 UMLS:C0175697 Autosomal dominant Not applicable Neonatal Australia AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.85 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=888 Van der Woude syndrome ORPHA:888 ICD-10:Q38.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536528 E (Exact mapping: the two concepts are equivalent) OMIM:119300 E (Exact mapping: the two concepts are equivalent) OMIM:604547 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606713 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0175697 E (Exact mapping: the two concepts are equivalent) Cutaneous hypersensitivity vasculitis A small vessel vasculitis characterized by neutrophilic inflammation predominantly limited to the superficial cutaneous postcapillary venules and without systemic vasculitis or glomerulonephritis. Typical presentation is of unifocal or multifocal palpable purpura on the lower extremities. Orphanet ICD-10:M31.0 ICD-11:EF40.1 UMLS:C0151436 Not applicable All ages Norway AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=889 Cutaneous small vessel vasculitis ORPHA:889 ICD-10:M31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF40.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0151436 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD2H.Y OMIM:301050 UMLS:C1567742 X-linked dominant Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 1.25 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88917 X-linked Alport syndrome Clinical subtype ORPHA:88917 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:301050 E (Exact mapping: the two concepts are equivalent) UMLS:C1567742 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C536586 OMIM:104200 UMLS:C1567743 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88918 Autosomal dominant Alport syndrome Clinical subtype ORPHA:88918 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536586 E (Exact mapping: the two concepts are equivalent) OMIM:104200 E (Exact mapping: the two concepts are equivalent) UMLS:C1567743 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.8 ICD-11:LD2H.Y MeSH:C536587 OMIM:203780 OMIM:620536 UMLS:C1567744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88919 Autosomal recessive Alport syndrome Clinical subtype ORPHA:88919 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536587 E (Exact mapping: the two concepts are equivalent) OMIM:203780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620536 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1567744 E (Exact mapping: the two concepts are equivalent) PKDTS TSC2/PKD1 contiguous gene syndrome Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Orphanet ICD-10:Q61.2 ICD-11:LD2F.1Y OMIM:600273 UMLS:C1838327 Autosomal dominant Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924 ICD-10:Q61.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600273 E (Exact mapping: the two concepts are equivalent) UMLS:C1838327 E (Exact mapping: the two concepts are equivalent) PHA2A ICD-10:I15.1 ICD-11:BA04.Y MeSH:C564160 OMIM:145260 UMLS:C1840389 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88938 Pseudohypoaldosteronism type 2A Etiological subtype ORPHA:88938 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564160 E (Exact mapping: the two concepts are equivalent) OMIM:145260 E (Exact mapping: the two concepts are equivalent) UMLS:C1840389 E (Exact mapping: the two concepts are equivalent) PHA2B ICD-10:I15.1 ICD-11:BA04.Y MeSH:C564161 OMIM:614491 UMLS:C1840390 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88939 Pseudohypoaldosteronism type 2B Etiological subtype ORPHA:88939 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564161 E (Exact mapping: the two concepts are equivalent) OMIM:614491 E (Exact mapping: the two concepts are equivalent) UMLS:C1840390 E (Exact mapping: the two concepts are equivalent) PHA2C ICD-10:I15.1 ICD-11:BA04.Y MeSH:C564162 OMIM:614492 UMLS:C1840391 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88940 Pseudohypoaldosteronism type 2C Etiological subtype ORPHA:88940 ICD-10:I15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BA04.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564162 E (Exact mapping: the two concepts are equivalent) OMIM:614492 E (Exact mapping: the two concepts are equivalent) UMLS:C1840391 E (Exact mapping: the two concepts are equivalent) ADTKD-MUC1 MCKD1 MUC1-related medullary cystic kidney disease MUCI-related ADTKD Medullary cystic kidney disease type 1 A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to <i>MUC1</i> mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years. Orphanet ICD-10:Q61.5 ICD-11:GB82 MeSH:C536137 OMIM:174000 UMLS:C1868139 Autosomal dominant Adult Ireland AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Clinical subtype ORPHA:88949 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536137 E (Exact mapping: the two concepts are equivalent) OMIM:174000 E (Exact mapping: the two concepts are equivalent) UMLS:C1868139 E (Exact mapping: the two concepts are equivalent) ADTKD-UMOD Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation Familial juvenile hyperuricemic nephropathy type 1 MCKD2 Medullary cystic kidney disease type 2 UAKD UMOD kidney disease UMOD-related ADTKD Uromodulin-associated kidney disease A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to <i>UMOD</i> mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals. Orphanet ICD-10:Q61.5 ICD-11:GB82 MeSH:C548033 OMIM:162000 UMLS:C1859040 Autosomal dominant Adolescent Adult Austria AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88950 UMOD-related autosomal dominant tubulointerstitial kidney disease Clinical subtype ORPHA:88950 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB82 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548033 E (Exact mapping: the two concepts are equivalent) OMIM:162000 E (Exact mapping: the two concepts are equivalent) UMLS:C1859040 E (Exact mapping: the two concepts are equivalent) UMLS:C5681450 Canada AND has_birth_prevalence_average_value : 223.0 AND has_birth_prevalence_range : >1 / 1000 Europe AND has_birth_prevalence_average_value : 7.8 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88991 Rare congenital non-syndromic heart malformation Category ORPHA:88991 UMLS:C5681450 E (Exact mapping: the two concepts are equivalent) ICD-11:LB12 UMLS:C5681451 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88993 Esophageal malformation Category ORPHA:88993 ICD-11:LB12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681451 E (Exact mapping: the two concepts are equivalent) Sinusoidal obstruction syndrome A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites. Orphanet ICD-10:K76.5 ICD-11:DB98.6 MeSH:D006504 MedDRA:10047216 UMLS:C0019156 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=890 Hepatic veno-occlusive disease ORPHA:890 ICD-10:K76.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB98.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006504 E (Exact mapping: the two concepts are equivalent) MedDRA:10047216 E (Exact mapping: the two concepts are equivalent) UMLS:C0019156 E (Exact mapping: the two concepts are equivalent) UMLS:C5681447 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89043 Rare dementia Category ORPHA:89043 UMLS:C5681447 E (Exact mapping: the two concepts are equivalent) Criswick-Schepens syndrome FEVR Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. Orphanet ICD-10:H35.0 ICD-11:LA13.3 MeSH:D000080345 OMIM:133780 OMIM:305390 OMIM:601813 OMIM:605750 OMIM:613310 OMIM:616468 OMIM:617572 UMLS:C0339539 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=891 Familial exudative vitreoretinopathy ORPHA:891 ICD-10:H35.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA13.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000080345 E (Exact mapping: the two concepts are equivalent) OMIM:133780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305390 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601813 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616468 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617572 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0339539 E (Exact mapping: the two concepts are equivalent) Familial cerebelloretinal angiomatosis Lindau disease VHL Von Hippel-Lindau syndrome A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma. Orphanet ICD-10:Q85.8 ICD-11:5A75 MeSH:D006623 MedDRA:10047716 OMIM:193300 UMLS:C0019562 Autosomal dominant Adolescent Adult Childhood Denmark AND has_birth_prevalence_average_value : 3.66 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 2.13 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 2.3 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=892 Von Hippel-Lindau disease ORPHA:892 ICD-10:Q85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A75 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D006623 E (Exact mapping: the two concepts are equivalent) MedDRA:10047716 E (Exact mapping: the two concepts are equivalent) OMIM:193300 E (Exact mapping: the two concepts are equivalent) UMLS:C0019562 E (Exact mapping: the two concepts are equivalent) Del(11)(p13) Deletion 11p13 Monosomy 11p13 Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Orphanet ICD-10:C64 ICD-11:LD2A.Y MeSH:D017624 OMIM:194072 OMIM:612469 UMLS:C0206115 Autosomal dominant Neonatal Worldwide AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=893 WAGR syndrome ORPHA:893 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017624 E (Exact mapping: the two concepts are equivalent) OMIM:194072 E (Exact mapping: the two concepts are equivalent) OMIM:612469 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0206115 E (Exact mapping: the two concepts are equivalent) WS1 Waardenburg syndrome type I A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Orphanet ICD-10:E70.3 ICD-11:EC23.2Y OMIM:193500 UMLS:C1847800 Autosomal dominant Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=894 Waardenburg syndrome type 1 Clinical subtype ORPHA:894 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:193500 E (Exact mapping: the two concepts are equivalent) UMLS:C1847800 E (Exact mapping: the two concepts are equivalent) WS2 Waardenburg syndrome type II An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. Orphanet ICD-10:E70.3 ICD-11:EC23.2Y MeSH:C536463 OMIM:193510 OMIM:600193 OMIM:606662 OMIM:611584 OMIM:619947 UMLS:C2700265 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=895 Waardenburg syndrome type 2 Clinical subtype ORPHA:895 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536463 E (Exact mapping: the two concepts are equivalent) OMIM:193510 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600193 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606662 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611584 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619947 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2700265 E (Exact mapping: the two concepts are equivalent) Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with limb anomalies A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Orphanet ICD-10:E70.3 ICD-11:EC23.2Y OMIM:148820 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=896 Waardenburg syndrome type 3 Clinical subtype ORPHA:896 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC23.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:148820 E (Exact mapping: the two concepts are equivalent) Shah-Waardenburg syndrome WS4 Waardenburg syndrome type 4 Waardenburg-Hirschsprung syndrome Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Orphanet ICD-10:Q87.8 ICD-11:LD2H.3 MeSH:C536467 OMIM:277580 OMIM:613265 OMIM:613266 UMLS:C1848519 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=897 Waardenburg-Shah syndrome ORPHA:897 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536467 E (Exact mapping: the two concepts are equivalent) OMIM:277580 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613265 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613266 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1848519 E (Exact mapping: the two concepts are equivalent) Dominant hyaloideoretinal dystrophy of Wagner VCAN-related vitreoretinopathy Vitreoretinal degeneration, Wagner type Wagner syndrome Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment. Orphanet ICD-10:H35.5 ICD-11:9B80 MeSH:C536075 MedDRA:10063383 OMIM:143200 UMLS:C1840452 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=898 Wagner disease ORPHA:898 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536075 E (Exact mapping: the two concepts are equivalent) MedDRA:10063383 E (Exact mapping: the two concepts are equivalent) OMIM:143200 E (Exact mapping: the two concepts are equivalent) UMLS:C1840452 E (Exact mapping: the two concepts are equivalent) UMLS:C5681445 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89826 Rare skin disease Category Head of classification ORPHA:89826 UMLS:C5681445 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Syndromic lymphedema ORPHA:89832 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Epidermolytic palmoplantar keratoderma Palmoplantar keratoderma with tonotubular keratin ORPHA:89833 Autosomal recessive generalized EBS A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Orphanet ICD-10:Q81.0 ICD-11:EC30 OMIM:601001 OMIM:619599 UMLS:C5680184 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89838 Autosomal recessive generalized epidermolysis bullosa simplex ORPHA:89838 ICD-10:Q81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601001 E (Exact mapping: the two concepts are equivalent) OMIM:619599 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680184 E (Exact mapping: the two concepts are equivalent) OBSOLETE: EBSS This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Epidermolysis bullosa simplex OBSOLETE: Epidermolysis bullosa simplex superficialis ORPHA:89839 OBSOLETE: JEN-nH This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Intermediate generalized junctional epidermolysis bullosa OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type ORPHA:89840 OBSOLETE: Centripetal dystrophic epidermolysis bullosa OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa OBSOLETE: RDEB, centripetalis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa ORPHA:89841 Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type Generalized RDEB, intermediate form RDEB, non-Hallopeau-Siemens type A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. Orphanet ICD-10:Q81.2 ICD-11:EC32 UMLS:C4511044 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form ORPHA:89842 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4511044 E (Exact mapping: the two concepts are equivalent) DEB pruriginosa DEB-Pr Pruriginous dystrophic epidermolysis bullosa A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. Orphanet ICD-10:Q81.2 ICD-11:EC32 MeSH:C563192 OMIM:604129 UMLS:C1275114 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 100.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89843 Dystrophic epidermolysis bullosa pruriginosa ORPHA:89843 ICD-10:Q81.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC32 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563192 E (Exact mapping: the two concepts are equivalent) OMIM:604129 E (Exact mapping: the two concepts are equivalent) UMLS:C1275114 E (Exact mapping: the two concepts are equivalent) Microlissencephaly type A Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MeSH:C537848 OMIM:257320 UMLS:C0796089 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89844 Lissencephaly syndrome, Norman-Roberts type Clinical subtype ORPHA:89844 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537848 E (Exact mapping: the two concepts are equivalent) OMIM:257320 E (Exact mapping: the two concepts are equivalent) UMLS:C0796089 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-immune hydrops fetalis OBSOLETE: Idiopathic hydrops fetalis ORPHA:89845 HARD syndrome Hydrocephalus-agyria-retinal dysplasia syndrome WWS A rare form of congenital muscular dystrophy (CMD) associated with severe brain and eye abnormalities. It is the most severe form of CMD. Orphanet ICD-10:G71.0 ICD-11:8C70.6 MeSH:D058494 OMIM:236670 OMIM:253280 OMIM:253800 OMIM:613150 OMIM:613153 OMIM:613154 OMIM:614643 OMIM:614830 OMIM:615041 OMIM:615181 OMIM:615249 OMIM:615287 OMIM:616538 UMLS:C0265221 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.65 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=899 Walker-Warburg syndrome ORPHA:899 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D058494 E (Exact mapping: the two concepts are equivalent) OMIM:236670 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:253280 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:253800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613153 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613154 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614643 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615041 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615181 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615249 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615287 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616538 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265221 E (Exact mapping: the two concepts are equivalent) X-linked hypophosphatemic rickets XLH A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. Orphanet ICD-10:E83.3 ICD-11:5C63.22 OMIM:307800 UMLS:C3540852 X-linked dominant Childhood Infancy Europe AND has_point_prevalence_average_value : 1.66 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.89 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.54 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 4.5 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.14 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89936 X-linked hypophosphatemia ORPHA:89936 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:307800 E (Exact mapping: the two concepts are equivalent) UMLS:C3540852 E (Exact mapping: the two concepts are equivalent) ADHR Autosomal dominant hypophosphatemia A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. Orphanet ICD-10:E83.3 ICD-11:5C63.22 MeSH:C562791 OMIM:193100 UMLS:C0342642 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89937 Autosomal dominant hypophosphatemic rickets ORPHA:89937 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562791 E (Exact mapping: the two concepts are equivalent) OMIM:193100 E (Exact mapping: the two concepts are equivalent) UMLS:C0342642 E (Exact mapping: the two concepts are equivalent) Bartter syndrome type IV Bartter syndrome with sensorineural deafness Bartter syndrome with sensorineural hearing loss A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent. Orphanet ICD-10:E26.8 ICD-11:GB90.43 OMIM:602522 OMIM:613090 UMLS:C3838860 Autosomal recessive Antenatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=89938 Bartter syndrome type 4 Clinical subtype ORPHA:89938 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.43 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:602522 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613090 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3838860 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Renal tubular acidosis type 4 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis ORPHA:89939 48,XXXX syndrome Quadruple X Tetra X Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Orphanet ICD-10:Q97.1 ICD-11:LD50.Y MeSH:C536502 UMLS:C0265496 Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=9 Tetrasomy X syndrome ORPHA:9 ICD-10:Q97.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536502 E (Exact mapping: the two concepts are equivalent) UMLS:C0265496 E (Exact mapping: the two concepts are equivalent) Arginase deficiency Hyperargininemia A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. Orphanet ICD-10:E72.2 ICD-11:5C50.A2 MeSH:D020162 MedDRA:10062695 OMIM:207800 UMLS:C0268548 Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_birth_prevalence_average_value : 0.04 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.27 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90 Argininemia ORPHA:90 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.A2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020162 E (Exact mapping: the two concepts are equivalent) MedDRA:10062695 E (Exact mapping: the two concepts are equivalent) OMIM:207800 E (Exact mapping: the two concepts are equivalent) UMLS:C0268548 E (Exact mapping: the two concepts are equivalent) GPA A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia. Orphanet ICD-10:M31.3 ICD-11:4A44.A1 MeSH:D014890 MedDRA:10072579 OMIM:608710 UMLS:C3495801 Not applicable Adolescent Adult Childhood Elderly Australia AND has_point_prevalence_average_value : 9.5 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_annual_incidence_average_value : 0.46 AND has_annual_incidence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 1.94 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 0.85 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.93 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 2.37 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 0.86 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 3.43 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 New Zealand AND has_point_prevalence_average_value : 9.35 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 9.51 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 0.49 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 1.19 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.037 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.3 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=900 Granulomatosis with polyangiitis ORPHA:900 ICD-10:M31.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A44.A1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014890 E (Exact mapping: the two concepts are equivalent) MedDRA:10072579 E (Exact mapping: the two concepts are equivalent) OMIM:608710 E (Exact mapping: the two concepts are equivalent) UMLS:C3495801 E (Exact mapping: the two concepts are equivalent) Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. Orphanet ICD-10:L95.1 ICD-11:EF40.2Y MeSH:C535509 MedDRA:10056968 UMLS:C0263398 Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90000 Erythema elevatum diutinum ORPHA:90000 ICD-10:L95.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EF40.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535509 E (Exact mapping: the two concepts are equivalent) MedDRA:10056968 E (Exact mapping: the two concepts are equivalent) UMLS:C0263398 E (Exact mapping: the two concepts are equivalent) Bornholm eye disease X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. Orphanet ICD-10:H53.8 ICD-11:9B70 MeSH:C564092 OMIM:300843 UMLS:C3159311 X-linked recessive Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90001 X-linked cone dysfunction syndrome with myopia ORPHA:90001 ICD-10:H53.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564092 E (Exact mapping: the two concepts are equivalent) OMIM:300843 E (Exact mapping: the two concepts are equivalent) UMLS:C3159311 E (Exact mapping: the two concepts are equivalent) UCTD A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent. Orphanet ICD-10:M35.8 ICD-11:LD28.Y MeSH:D000074079 MedDRA:10071575 UMLS:C0409999 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90002 Undifferentiated connective tissue syndrome ORPHA:90002 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D000074079 E (Exact mapping: the two concepts are equivalent) MedDRA:10071575 E (Exact mapping: the two concepts are equivalent) UMLS:C0409999 E (Exact mapping: the two concepts are equivalent) A rare benign liver tumor characterized by a prominent inflammatory infiltrate and often mimicking a malignant liver neoplasm. The tumor is frequently solitary with a predilection for the right lobe; however, multiple lesions are possible. There are two clinicopathological subtypes: fibrohistiocytic inflammatory pseudotumor of the liver and lymphoplasmacytic inflammatory pseudotumor of the liver. Patients present with non-specific clinical symptoms such as abdominal pain or discomfort, fever, and weight loss. The condition may be associated with other chronic inflammatory or autoimmune diseases. Orphanet ICD-10:K75.8 ICD-11:DB99.Y UMLS:C1333967 Not applicable All ages Worldwide AND has_cases/families_value : 140.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90003 Inflammatory pseudotumor of the liver ORPHA:90003 ICD-10:K75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB99.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1333967 E (Exact mapping: the two concepts are equivalent) G-PDC Guam disease Guam parkinsonism-dementia complex Lytico-Bodig disease A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam. Orphanet ICD-10:G12.2 ICD-11:6D85.Y OMIM:105500 UMLS:C0543859 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90020 Parkinson-dementia complex of Guam ORPHA:90020 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D85.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105500 E (Exact mapping: the two concepts are equivalent) UMLS:C0543859 E (Exact mapping: the two concepts are equivalent) Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered. Orphanet ICD-10:G97.8 UMLS:C4706614 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90021 Radiation myelitis ORPHA:90021 ICD-10:G97.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706614 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cardiomyopathy OBSOLETE: Cardiomyopathy-renal anomalies syndrome ORPHA:90022 Primary immunodeficiency syndrome due to LAMTOR2 deficiency Primary immunodeficiency syndrome due to P14 deficiency Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections. Orphanet ICD-10:D82.8 ICD-11:4B00.00 OMIM:610798 UMLS:C4305256 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency ORPHA:90023 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610798 E (Exact mapping: the two concepts are equivalent) UMLS:C4305256 E (Exact mapping: the two concepts are equivalent) Hearing loss with labyrinthine aplasia, microtia, and microdontia LAMM syndrome Microdontia-type I microtia-deafness syndrome Microdontia-type I microtia-hearing loss syndrome Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Orphanet ICD-10:Q16.5 ICD-11:LD2H.Y MeSH:C565195 OMIM:610706 UMLS:C1853144 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 56.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90024 Deafness with labyrinthine aplasia, microtia, and microdontia ORPHA:90024 ICD-10:Q16.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565195 E (Exact mapping: the two concepts are equivalent) OMIM:610706 E (Exact mapping: the two concepts are equivalent) UMLS:C1853144 E (Exact mapping: the two concepts are equivalent) A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type. Orphanet ICD-10:Q70 ICD-11:LB79 MeSH:D013576 MedDRA:10042778 UMLS:C5681365 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90025 Non-syndromic syndactyly Category ORPHA:90025 ICD-10:Q70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB79 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013576 E (Exact mapping: the two concepts are equivalent) MedDRA:10042778 E (Exact mapping: the two concepts are equivalent) UMLS:C5681365 E (Exact mapping: the two concepts are equivalent) Primary erythermalgia Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. Orphanet ICD-10:I73.8 ICD-11:EG00 MeSH:D004916 OMIM:133020 UMLS:C0014805 Autosomal dominant All ages United States AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90026 Primary erythromelalgia ORPHA:90026 ICD-10:I73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EG00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D004916 E (Exact mapping: the two concepts are equivalent) OMIM:133020 E (Exact mapping: the two concepts are equivalent) UMLS:C0014805 E (Exact mapping: the two concepts are equivalent) Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. Orphanet ICD-10:D55.1 ICD-11:3A10.0Y OMIM:618660 UMLS:C5231513 Autosomal recessive No data available Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90030 Hemolytic anemia due to glutathione reductase deficiency ORPHA:90030 ICD-10:D55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:618660 E (Exact mapping: the two concepts are equivalent) UMLS:C5231513 E (Exact mapping: the two concepts are equivalent) Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R. Orphanet ICD-10:D55.2 ICD-11:3A10.Y OMIM:235700 UMLS:C5681378 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 17.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency ORPHA:90031 ICD-10:D55.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:235700 E (Exact mapping: the two concepts are equivalent) UMLS:C5681378 E (Exact mapping: the two concepts are equivalent) Warm AIHA wAHA wAIHA Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C). Orphanet ICD-10:D59.1 ICD-11:3A20.0 MedDRA:10047822 UMLS:C0272118 Multigenic/multifactorial All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90033 Autoimmune hemolytic anemia, warm type ORPHA:90033 ICD-10:D59.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A20.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10047822 E (Exact mapping: the two concepts are equivalent) UMLS:C0272118 E (Exact mapping: the two concepts are equivalent) Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome PCH Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. Orphanet ICD-10:D59.6 ICD-11:3A20.3 MeSH:C538618 UMLS:C0086774 Multigenic/multifactorial Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90035 Paroxysmal cold hemoglobinuria ORPHA:90035 ICD-10:D59.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A20.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538618 E (Exact mapping: the two concepts are equivalent) UMLS:C0086774 E (Exact mapping: the two concepts are equivalent) Mixed AIHA Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. Orphanet ICD-10:D59.1 ICD-11:3A20.2 UMLS:C4305257 Multigenic/multifactorial All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90036 Mixed-type autoimmune hemolytic anemia ORPHA:90036 ICD-10:D59.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A20.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4305257 E (Exact mapping: the two concepts are equivalent) Drug-induced AIHA Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms. Orphanet ICD-10:D59.0 ICD-11:3A20.Y MedDRA:10055213 UMLS:C0391817 Multigenic/multifactorial All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90037 Drug-induced autoimmune hemolytic anemia ORPHA:90037 ICD-10:D59.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10055213 E (Exact mapping: the two concepts are equivalent) UMLS:C0391817 E (Exact mapping: the two concepts are equivalent) D+ HUS EHEC-HUS Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli Hemolytic uremic syndrome with diarrhea STEC-HUS Shiga-like toxin-associated HUS Stx-HUS Typical HUS Typical hemolytic uremic syndrome A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by <i>Shigella dysentriae</i> type 1 or <i>E. Coli</i>. Orphanet ICD-10:D58.8 ICD-11:3A21.Y ICD-11:XN108 OMIM:235400 Not applicable All ages Europe AND has_point_prevalence_range : Unknown United States AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90038 Shiga toxin-associated hemolytic uremic syndrome Clinical subtype ORPHA:90038 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:XN108 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:235400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). Orphanet ICD-10:D58.2 ICD-11:3A51.6 MedDRA:10055019 UMLS:C0272080 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90039 Hemoglobin D disease ORPHA:90039 ICD-10:D58.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A51.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10055019 E (Exact mapping: the two concepts are equivalent) UMLS:C0272080 E (Exact mapping: the two concepts are equivalent) Stress erythrocytosis Stress polycythemia Gaisbock syndrome is characterised by secondary polycythemia. Orphanet ICD-10:D75.1 ICD-11:3B61.1 MedDRA:10053885 UMLS:C0541719 Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90041 Gaisböck syndrome ORPHA:90041 ICD-10:D75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B61.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10053885 E (Exact mapping: the two concepts are equivalent) UMLS:C0541719 E (Exact mapping: the two concepts are equivalent) Congenital erythrocytosis due to erythropoietin receptor mutation Congenital polycythemia due to erythropoietin receptor mutation Familial erythrocytosis PFCP Primary congenital erythrocytosis Primary familial and congenital polycythemia Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. Orphanet ICD-10:D75.0 ICD-11:3A80.0 MeSH:C536842 OMIM:133100 UMLS:C4551637 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90042 Primary familial polycythemia ORPHA:90042 ICD-10:D75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A80.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536842 E (Exact mapping: the two concepts are equivalent) OMIM:133100 E (Exact mapping: the two concepts are equivalent) UMLS:C4551637 E (Exact mapping: the two concepts are equivalent) Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high <i>in vitro</i> potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Orphanet ICD-10:D58.8 ICD-11:3A10.3 OMIM:609153 UMLS:C4273970 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90044 Familial pseudohyperkalemia ORPHA:90044 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:609153 E (Exact mapping: the two concepts are equivalent) UMLS:C4273970 E (Exact mapping: the two concepts are equivalent) Congenital folate malabsorption Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders. Orphanet ICD-10:D52.8 ICD-11:5C63.1 MeSH:C562799 OMIM:229050 UMLS:C0342705 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90045 Hereditary folate malabsorption ORPHA:90045 ICD-10:D52.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562799 E (Exact mapping: the two concepts are equivalent) OMIM:229050 E (Exact mapping: the two concepts are equivalent) UMLS:C0342705 E (Exact mapping: the two concepts are equivalent) ROP Retrolental fibroplasia A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization. Orphanet ICD-10:H35.1 ICD-11:9B71.3 MeSH:D012178 MedDRA:10038933 OMIM:133780 UMLS:C0035344 Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90050 Retinopathy of prematurity ORPHA:90050 ICD-10:H35.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9B71.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012178 E (Exact mapping: the two concepts are equivalent) MedDRA:10038933 E (Exact mapping: the two concepts are equivalent) OMIM:133780 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0035344 E (Exact mapping: the two concepts are equivalent) A rare systemic condition affecting neonates born at less than 37 weeks gestational age and characterized by life-threatening organ dysfunction caused by a dysregulated host response to an infection, which may have been acquired shortly before or during birth (resulting in early-onset neonatal sepsis during the first 72 hours of life), or after birth (leading to late-onset neonatal sepsis between 72 hours and three months). Prematurity constitutes one of the primary risk factors for neonatal sepsis. The clinical picture may develop gradually with signs and symptoms like irritability, lethargy, or poor feeding, or progress rapidly to respiratory distress, fever, hypothermia, hypotension, shock, and multiple organ failure. Orphanet ICD-10:P36.0 ICD-10:P36.1 ICD-10:P36.2 ICD-10:P36.3 ICD-10:P36.4 ICD-10:P36.5 ICD-10:P36.8 ICD-10:P36.9 UMLS:C5681350 Not applicable Neonatal Europe AND has_point_prevalence_average_value : 32.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90051 Sepsis in premature infants ORPHA:90051 ICD-10:P36.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P36.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P36.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P36.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P36.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P36.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P36.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:P36.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681350 E (Exact mapping: the two concepts are equivalent) A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population. Orphanet ICD-10:B18.2 UMLS:C5681349 Not applicable All ages Europe AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients ORPHA:90052 ICD-10:B18.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681349 E (Exact mapping: the two concepts are equivalent) Complications after HSCT ICD-10:Z94.8 UMLS:C5680176 Not applicable All ages Europe AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90053 Complications after hematopoietic stem cell transplantation ORPHA:90053 ICD-10:Z94.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680176 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Complication after organ transplantation OBSOLETE: Rejection after corneal transplantation ORPHA:90055 A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma. Orphanet ICD-10:S06.0 ICD-10:S06.1 ICD-10:S06.2 ICD-10:S06.3 ICD-10:S06.4 ICD-10:S06.5 ICD-10:S06.6 ICD-10:S06.7 ICD-10:S06.8 ICD-10:S06.9 UMLS:C5681362 Not applicable All ages Europe AND has_point_prevalence_average_value : 37.8 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90056 Moderate and severe traumatic brain injury ORPHA:90056 ICD-10:S06.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:S06.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681362 E (Exact mapping: the two concepts are equivalent) ICD-10:T09.3 ICD-11:ND51.2 MeSH:D013119 MedDRA:10041552 UMLS:C0037929 Not applicable All ages Canada AND has_annual_incidence_average_value : 3.57 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 32.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90058 Spinal cord injury ORPHA:90058 ICD-10:T09.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ND51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D013119 E (Exact mapping: the two concepts are equivalent) MedDRA:10041552 E (Exact mapping: the two concepts are equivalent) UMLS:C0037929 E (Exact mapping: the two concepts are equivalent) Secondary acute sensorineural hearing loss A rare otorhinolaryngologic condition characterized by sudden hearing loss of at least 30 decibels across three contiguous frequencies, within 72 hours or less, due to acute damage to the cochlear hair cells, resulting from acoustic trauma or mechanical trauma during surgery, or occurring without any known cause. The hearing loss may affect one or both ears. Typical concomitant symptoms are aural fullness, tinnitus, and vertigo. Patients may fully recover or remain with hearing loss of variable intensity. Orphanet ICD-10:H83.3 UMLS:C5681358 Not applicable All ages Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90059 Sudden sensorineural hearing loss ORPHA:90059 ICD-10:H83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681358 E (Exact mapping: the two concepts are equivalent) A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis. Orphanet ICD-10:R04.8 ICD-11:MD23 UMLS:C4476767 Not applicable Adolescent Adult Childhood Elderly Infancy Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90060 Diffuse alveolar hemorrhage ORPHA:90060 ICD-10:R04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MD23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4476767 E (Exact mapping: the two concepts are equivalent) Non-infectious choroiditis ICD-10:H30.1 ICD-11:9B65.0 UMLS:C5396634 Europe AND has_point_prevalence_average_value : 18.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90061 Non-infectious posterior uveitis Category ORPHA:90061 ICD-10:H30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B65.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5396634 E (Exact mapping: the two concepts are equivalent) Acute hepatic failure Fulminant hepatic failure A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis. Orphanet ICD-10:K72.0 MeSH:D017114 MedDRA:10000804 UMLS:C0162557 Not applicable Adolescent Adult Childhood Elderly Infancy Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90062 Acute liver failure ORPHA:90062 ICD-10:K72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D017114 E (Exact mapping: the two concepts are equivalent) MedDRA:10000804 E (Exact mapping: the two concepts are equivalent) UMLS:C0162557 E (Exact mapping: the two concepts are equivalent) A rare vascular condition characterized by the sudden blockage of an artery supplying blood to the limbs by a blood clot, causing acute limb ischemia. The clinical presentation is variable and depends on the time course of vessel occlusion, the presence of an underlying vascular disease, and the recruitment of collateral circulation. Symptoms can develop over a period of hours to days and typically include limb pain, pallor, absent pulse, poikilothermia, paresthesia, and limb paralysis. The condition can quickly progress to infarction and loss of the limb. Orphanet ICD-10:I74.4 UMLS:C5681343 Not applicable All ages Europe AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90064 Acute peripheral arterial occlusion ORPHA:90064 ICD-10:I74.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681343 E (Exact mapping: the two concepts are equivalent) A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. Orphanet ICD-10:I60.9 ICD-11:8B01.0 UMLS:C0338572 Not applicable All ages Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90065 Acquired aneurysmal subarachnoid hemorrhage ORPHA:90065 ICD-10:I60.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0338572 E (Exact mapping: the two concepts are equivalent) A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen. Orphanet ICD-10:J15.1 ICD-11:CA40.05 UMLS:C0920182 Not applicable All ages Europe AND has_point_prevalence_average_value : 50.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90066 Pneumonia caused by Pseudomonas aeruginosa infection ORPHA:90066 ICD-10:J15.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA40.05 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0920182 E (Exact mapping: the two concepts are equivalent) A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death. Orphanet ICD-10:T40.5 ICD-11:6C45.3 UMLS:C0009176 Not applicable All ages Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90068 Cocaine intoxication ORPHA:90068 ICD-10:T40.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:6C45.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0009176 E (Exact mapping: the two concepts are equivalent) Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. Orphanet ICD-10:T60.3 ICD-11:NE61 UMLS:C4707283 All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90069 Systemic monochloroacetate poisoning ORPHA:90069 ICD-10:T60.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:NE61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707283 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Methotrexate intoxication This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Methotrexate toxicity OBSOLETE: Methotrexate poisoning ORPHA:90070 A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival. Orphanet ICD-10:B18.0 UMLS:C5681345 Not applicable All ages Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90073 Hepatitis B reinfection following liver transplantation ORPHA:90073 ICD-10:B18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681345 E (Exact mapping: the two concepts are equivalent) ICD-10:T30.3 Not applicable All ages Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90076 Partial deep dermal and full thickness burns ORPHA:90076 ICD-10:T30.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681396 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90077 Other acquired skin disease Category ORPHA:90077 UMLS:C5681396 E (Exact mapping: the two concepts are equivalent) Invasive infections due to VRE A rare bacterial infectious disease characterized by invasive infection with vancomycin-resistant enterococci (VRE), typically after VRE colonization of the gastrointestinal tract or the skin in healthcare settings. Invasive infection most commonly occurs in immunocompromised individuals and patients with breaches in normal defensive barriers (such as intravascular lines or urinary catheters). Patients may develop urinary tract infection, bacteremia, and endocarditis, as well as infections of the abdomen, pelvis, biliary tract, and wounds. Less frequent infection sites include the bone, joints, and meninges, among others. Orphanet ICD-10:A49.1 MedDRA:10053621 UMLS:C5680177 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90078 Invasive infections due to vancomycin-resistant enterococci ORPHA:90078 ICD-10:A49.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10053621 E (Exact mapping: the two concepts are equivalent) UMLS:C5680177 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare intoxication due to medical products OBSOLETE: Anthracycline extravasation ORPHA:90079 A rare ophthalmic condition characterized by formation of excessive scar tissue between the conjunctiva/Tenon capsule and the sclera at the surgical site following glaucoma filtration surgery. Scarring can occur months or years after surgery, resulting in treatment failure with poor postoperative control of intraocular pressure and, potentially, loss of vision. Orphanet ICD-10:H59.8 UMLS:C5681395 Not applicable All ages Europe AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90080 Scarring in glaucoma filtration surgical procedures ORPHA:90080 ICD-10:H59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681395 E (Exact mapping: the two concepts are equivalent) A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterized by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhea or weakness and fever which have lasted at least 30 days and are not related to an infection. Orphanet ICD-10:B22.2 ICD-11:1C62.3Y MeSH:D019247 MedDRA:10050309 UMLS:C0343755 Not applicable All ages Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90081 AIDS wasting syndrome ORPHA:90081 ICD-10:B22.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C62.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019247 E (Exact mapping: the two concepts are equivalent) MedDRA:10050309 E (Exact mapping: the two concepts are equivalent) UMLS:C0343755 E (Exact mapping: the two concepts are equivalent) Eosinophilic cellulitis Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia. Orphanet ICD-10:L98.3 ICD-11:EB30 MeSH:C536693 UMLS:C0343101 Not applicable Adult Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=901 Wells syndrome ORPHA:901 ICD-10:L98.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536693 E (Exact mapping: the two concepts are equivalent) UMLS:C0343101 E (Exact mapping: the two concepts are equivalent) CMT-deafness-intellectual disability syndrome Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. Orphanet ICD-10:G60.0 ICD-11:8C20.Y OMIM:214370 UMLS:C4706301 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:214370 E (Exact mapping: the two concepts are equivalent) UMLS:C4706301 E (Exact mapping: the two concepts are equivalent) CMTDI ICD-11:8C20.2 UMLS:C5680178 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease Clinical group ORPHA:90114 ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680178 E (Exact mapping: the two concepts are equivalent) HMSNP Hereditary motor and sensory neuropathy, proximal type Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. Orphanet ICD-10:G60.0 ICD-11:8C20.Y MeSH:C535717 OMIM:604484 UMLS:C1858338 Autosomal dominant Adult Worldwide AND has_cases/families_value : 120.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90117 Hereditary motor and sensory neuropathy, Okinawa type ORPHA:90117 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C20.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535717 E (Exact mapping: the two concepts are equivalent) OMIM:604484 E (Exact mapping: the two concepts are equivalent) UMLS:C1858338 E (Exact mapping: the two concepts are equivalent) AR-CMT2, Ouvrier type Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type SEOAN due to MFN2 deficiency Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. Orphanet ICD-10:G60.0 UMLS:C4707897 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90118 Severe early-onset axonal neuropathy due to MFN2 deficiency ORPHA:90118 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707897 E (Exact mapping: the two concepts are equivalent) AR-CMT2 with acrodystrophy Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy HMSN with acrodystrophy Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. Orphanet ICD-10:G60.0 ICD-11:8C20.1 UMLS:C4749729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90119 Hereditary motor and sensory neuropathy with acrodystrophy ORPHA:90119 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749729 E (Exact mapping: the two concepts are equivalent) CMT6 Charcot-Marie-Tooth disease type 6 HMSN 6 HMSN VI Hereditary motor and sensory neuropathy type VI Peripheral neuropathy and optic atrophy A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C562851 OMIM:601152 OMIM:616505 UMLS:C0393807 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90120 Hereditary motor and sensory neuropathy type 6 ORPHA:90120 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562851 E (Exact mapping: the two concepts are equivalent) OMIM:601152 E (Exact mapping: the two concepts are equivalent) OMIM:616505 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0393807 E (Exact mapping: the two concepts are equivalent) MADA ICD-10:Q87.5 ICD-11:LD27.6Z MeSH:C535705 OMIM:248370 UMLS:C5399785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90153 Mandibuloacral dysplasia with type A lipodystrophy Clinical subtype ORPHA:90153 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.6Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535705 E (Exact mapping: the two concepts are equivalent) OMIM:248370 E (Exact mapping: the two concepts are equivalent) UMLS:C5399785 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.5 ICD-11:LD27.6Z MeSH:C535706 OMIM:608612 UMLS:C1837756 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90154 Mandibuloacral dysplasia with type B lipodystrophy Clinical subtype ORPHA:90154 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.6Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535706 E (Exact mapping: the two concepts are equivalent) OMIM:608612 E (Exact mapping: the two concepts are equivalent) UMLS:C1837756 E (Exact mapping: the two concepts are equivalent) Lipodystrophia centrifugalis abdominalis infantilis Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving. Orphanet ICD-10:E88.1 ICD-11:EF01.1 UMLS:C0406605 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90156 Centrifugal lipodystrophy ORPHA:90156 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF01.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406605 E (Exact mapping: the two concepts are equivalent) Lipoatrophy caused by injected drug Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. Orphanet ICD-10:E88.1 ICD-11:EF01.1 UMLS:C1274983 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90157 Drug-induced localized lipodystrophy ORPHA:90157 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF01.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1274983 E (Exact mapping: the two concepts are equivalent) Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc). Orphanet ICD-10:E88.1 ICD-11:EF01.1 UMLS:C0473566 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90158 Idiopathic localized lipodystrophy ORPHA:90158 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF01.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0473566 E (Exact mapping: the two concepts are equivalent) Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis. Orphanet ICD-10:E88.1 ICD-11:EF01.1 UMLS:C5190785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90159 Panniculitis-induced localized lipodystrophy ORPHA:90159 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF01.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190785 E (Exact mapping: the two concepts are equivalent) Lipoatrophia semicircularis Semicircular lipoatrophy Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. Orphanet ICD-10:E88.1 ICD-11:EF01.1 UMLS:C1260961 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90160 Pressure-induced localized lipoatrophy ORPHA:90160 ICD-10:E88.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EF01.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1260961 E (Exact mapping: the two concepts are equivalent) Meige-like disease This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Meige disease Non-hereditary late-onset primary lymphedema ORPHA:90185 Hereditary lymphedema type II Meige lymphedema Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty. Orphanet ICD-10:Q82.0 ICD-11:BD93.0 OMIM:153200 UMLS:C1704424 Not applicable Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90186 Meige disease ORPHA:90186 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:BD93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:153200 E (Exact mapping: the two concepts are equivalent) UMLS:C1704424 E (Exact mapping: the two concepts are equivalent) Adult progeria WS Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. Orphanet ICD-10:E34.8 ICD-11:LD2B MeSH:D014898 MedDRA:10049429 OMIM:277700 UMLS:C0043119 Autosomal recessive Adolescent Adult Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=902 Werner syndrome ORPHA:902 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014898 E (Exact mapping: the two concepts are equivalent) MedDRA:10049429 E (Exact mapping: the two concepts are equivalent) OMIM:277700 E (Exact mapping: the two concepts are equivalent) UMLS:C0043119 E (Exact mapping: the two concepts are equivalent) A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. Orphanet ICD-10:L93.2 ICD-11:EB51.Y MeSH:C535924 MedDRA:10025141 UMLS:C4551515 Not applicable Adolescent Adult Childhood Elderly Infancy Worldwide AND has_cases/families_value : 70.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90280 Chilblain lupus ORPHA:90280 ICD-10:L93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535924 E (Exact mapping: the two concepts are equivalent) MedDRA:10025141 E (Exact mapping: the two concepts are equivalent) UMLS:C4551515 E (Exact mapping: the two concepts are equivalent) A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus. Orphanet ICD-10:L93.0 ICD-11:EB51.0 MeSH:D008179 MedDRA:10013072 UMLS:C5574816 Adolescent Adult Childhood Elderly Sweden AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 3.56 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90281 Discoid lupus erythematosus ORPHA:90281 ICD-10:L93.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008179 E (Exact mapping: the two concepts are equivalent) MedDRA:10013072 E (Exact mapping: the two concepts are equivalent) UMLS:C5574816 E (Exact mapping: the two concepts are equivalent) Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate. Orphanet ICD-10:L93.2 ICD-11:EB51.Y UMLS:C1274838 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90282 Hypertrophic or verrucous lupus erythematosus ORPHA:90282 ICD-10:L93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1274838 E (Exact mapping: the two concepts are equivalent) Intermittent cutaneous lupus A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction. Orphanet ICD-10:L93.2 ICD-11:EB51.Y UMLS:C0406636 Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90283 Lupus erythematosus tumidus ORPHA:90283 ICD-10:L93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406636 E (Exact mapping: the two concepts are equivalent) Lupus erythematosus profundus A rare form of chronic cutaneous lupus erythematosus characterized by recurrent, indurated, erythematous plaques and subcutaneous nodules with normal overlying epidermis, occurring predominantly on the face, upper arms, trunk, buttocks, and thighs. The lesions can ulcerate and lead to scarring. Histological findings include lobular lymphocytic panniculitis, hyaline fat necrosis, mucin deposition, and calcification. The condition may be associated with discoid or systemic lupus erythematosus. Orphanet ICD-10:L93.2 ICD-11:EB51.Y MeSH:D015435 UMLS:C0030327 Adolescent Adult Childhood Elderly Infancy United States AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.315 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90285 Lupus erythematosus panniculitis ORPHA:90285 ICD-10:L93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:EB51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015435 E (Exact mapping: the two concepts are equivalent) UMLS:C0030327 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cutaneous lupus erythematosus OBSOLETE: Maculopapular lupus rash ORPHA:90287 Localized fibrosing scleroderma A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities. Orphanet ICD-10:L94.0 ICD-11:EB61.0 MeSH:D012594 MedDRA:10039712 UMLS:C0036420 Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90289 Localized scleroderma ORPHA:90289 ICD-10:L94.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012594 E (Exact mapping: the two concepts are equivalent) MedDRA:10039712 E (Exact mapping: the two concepts are equivalent) UMLS:C0036420 E (Exact mapping: the two concepts are equivalent) Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Limited cutaneous systemic sclerosis ICD-10:M34.1 MeSH:D017675 MedDRA:10011380 UMLS:C0206138 CREST syndrome ORPHA:90290 ICD-10:M34.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017675 E (Exact mapping: the two concepts are equivalent) MedDRA:10011380 E (Exact mapping: the two concepts are equivalent) UMLS:C0206138 E (Exact mapping: the two concepts are equivalent) Systemic scleroderma Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms). Orphanet ICD-10:M34.0 ICD-10:M34.1 ICD-10:M34.2 ICD-10:M34.8 ICD-10:M34.9 ICD-11:4A42 MeSH:D012595 MedDRA:10042953 OMIM:181750 UMLS:C0036421 Multigenic/multifactorial Not applicable Adult Australia AND has_annual_incidence_average_value : 204.0 AND has_annual_incidence_range : >1 / 1000 Australia AND has_point_prevalence_average_value : 23.3 AND has_point_prevalence_range : 1-5 / 10 000 Canada AND has_point_prevalence_average_value : 44.3 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 15.4 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 17.3 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_annual_incidence_average_value : 110.0 AND has_annual_incidence_range : >1 / 1000 Greece AND has_point_prevalence_average_value : 15.4 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 22.2 AND has_point_prevalence_range : 1-5 / 10 000 Japan AND has_annual_incidence_average_value : 72.0 AND has_annual_incidence_range : 6-9 / 10 000 Japan AND has_point_prevalence_average_value : 4.6 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 230.0 AND has_annual_incidence_range : >1 / 1000 Spain AND has_point_prevalence_average_value : 27.7 AND has_point_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_annual_incidence_average_value : 1.09 AND has_annual_incidence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 5.63 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 8.8 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90291 Systemic sclerosis ORPHA:90291 ICD-10:M34.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:M34.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:M34.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:M34.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:M34.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012595 E (Exact mapping: the two concepts are equivalent) MedDRA:10042953 E (Exact mapping: the two concepts are equivalent) OMIM:181750 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0036421 E (Exact mapping: the two concepts are equivalent) Hereditary pseudohaemophilia Hereditary von Willebrand disease A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Orphanet ICD-10:D68.0 ICD-11:3B12 MeSH:D014842 MedDRA:10047715 OMIM:193400 OMIM:277480 OMIM:314560 OMIM:613554 UMLS:C0042974 Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=903 Von Willebrand disease ORPHA:903 ICD-10:D68.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3B12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014842 E (Exact mapping: the two concepts are equivalent) MedDRA:10047715 E (Exact mapping: the two concepts are equivalent) OMIM:193400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:277480 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:314560 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613554 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0042974 E (Exact mapping: the two concepts are equivalent) This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. Orphanet ICD-10:E34.8 OMIM:200170 UMLS:C4305258 Adult Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome ORPHA:90301 ICD-10:E34.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:200170 E (Exact mapping: the two concepts are equivalent) UMLS:C4305258 E (Exact mapping: the two concepts are equivalent) A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present. Orphanet ICD-10:Q87.2 ICD-11:LD26.60 OMIM:608354 UMLS:C5574870 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90307 Parkes Weber syndrome ORPHA:90307 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608354 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5574870 E (Exact mapping: the two concepts are equivalent) A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. Orphanet ICD-10:Q87.2 ICD-11:LD26.60 MedDRA:10051452 OMIM:149000 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.007 AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.007 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90308 Klippel-Trénaunay syndrome ORPHA:90308 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD26.60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10051452 E (Exact mapping: the two concepts are equivalent) OMIM:149000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OBSOLETE: EDS I This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Classical Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 1 ORPHA:90309 OBSOLETE: EDS II This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Classical Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 2 ORPHA:90318 Cockayne syndrome type I ICD-10:Q87.8 ICD-11:LD2B OMIM:133540 OMIM:216400 UMLS:C0751039 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90321 Cockayne syndrome type 1 Clinical subtype ORPHA:90321 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:133540 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:216400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751039 E (Exact mapping: the two concepts are equivalent) Cockayne syndrome type II ICD-10:Q87.8 ICD-11:LD2B OMIM:133540 OMIM:216400 UMLS:C0751038 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90322 Cockayne syndrome type 2 Clinical subtype ORPHA:90322 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:133540 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:216400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751038 E (Exact mapping: the two concepts are equivalent) Cockayne syndrome type III ICD-10:Q87.8 ICD-11:LD2B OMIM:133540 OMIM:216400 UMLS:C0751037 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90324 Cockayne syndrome type 3 Clinical subtype ORPHA:90324 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:133540 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:216400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751037 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cleft lip/palate-ectodermal dysplasia syndrome Margarita island ectodermal dysplasia ORPHA:90338 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Ectodermal dysplasia syndrome OBSOLETE: Rosselli-Gulienetti syndrome ORPHA:90339 Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. Orphanet ICD-10:D89.8 ICD-11:4A60.Y MedDRA:10071755 OMIM:186580 UMLS:C5201146 Autosomal dominant Not applicable Infancy Neonatal Denmark AND has_birth_prevalence_average_value : 0.06 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90340 Blau syndrome ORPHA:90340 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10071755 E (Exact mapping: the two concepts are equivalent) OMIM:186580 E (Exact mapping: the two concepts are equivalent) UMLS:C5201146 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Blau syndrome UMLS:C1836122 Early-onset sarcoidosis ORPHA:90341 UMLS:C1836122 E (Exact mapping: the two concepts are equivalent) XPV Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. Orphanet ICD-10:Q82.1 ICD-11:LD27.Y MeSH:C536766 OMIM:278750 UMLS:C1848410 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90342 Xeroderma pigmentosum variant ORPHA:90342 ICD-10:Q82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536766 E (Exact mapping: the two concepts are equivalent) OMIM:278750 E (Exact mapping: the two concepts are equivalent) UMLS:C1848410 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple metaphyseal dysplasia OBSOLETE: Unclassified metaphyseal chondrodysplasia ORPHA:90345 ADCL A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. Orphanet ICD-10:Q82.8 ICD-11:LD28.2 MeSH:C562627 OMIM:123700 OMIM:614434 OMIM:616603 UMLS:C0268350 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90348 Autosomal dominant cutis laxa ORPHA:90348 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562627 E (Exact mapping: the two concepts are equivalent) OMIM:123700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614434 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616603 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268350 E (Exact mapping: the two concepts are equivalent) ARCL1 Autosomal recessive cutis laxa with severe systemic involvement Autosomal recessive cutis laxa, pulmonary emphysema type A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). Orphanet ICD-10:Q82.8 ICD-11:LD28.2 MeSH:C562628 OMIM:219100 OMIM:614437 UMLS:C0268351 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90349 Autosomal recessive cutis laxa type 1 ORPHA:90349 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562628 E (Exact mapping: the two concepts are equivalent) OMIM:219100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614437 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268351 E (Exact mapping: the two concepts are equivalent) ARCL2 Cutis laxa with joint laxity and developmental delay A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). Orphanet UMLS:C0432337 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90350 Autosomal recessive cutis laxa type 2 Clinical group ORPHA:90350 UMLS:C0432337 E (Exact mapping: the two concepts are equivalent) Ehlers-Danlos syndrome type 6B A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. Orphanet ICD-10:Q79.6 ICD-11:LD28.1Y OMIM:229200 OMIM:614170 UMLS:C0268344 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 65.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90354 Brittle cornea syndrome ORPHA:90354 ICD-10:Q79.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:229200 E (Exact mapping: the two concepts are equivalent) OMIM:614170 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0268344 E (Exact mapping: the two concepts are equivalent) Waldmann disease A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children. Orphanet ICD-10:I89.0 ICD-11:LB15.Y MeSH:C536567 OMIM:152800 UMLS:C2931241 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90362 Primary intestinal lymphangiectasia ORPHA:90362 ICD-10:I89.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB15.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536567 E (Exact mapping: the two concepts are equivalent) OMIM:152800 E (Exact mapping: the two concepts are equivalent) UMLS:C2931241 E (Exact mapping: the two concepts are equivalent) Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. Orphanet ICD-10:I89.0 ICD-11:BD92.0 UMLS:C4273969 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90363 Secondary intestinal lymphangiectasia ORPHA:90363 ICD-10:I89.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BD92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4273969 E (Exact mapping: the two concepts are equivalent) Hereditary hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. Orphanet ICD-10:L65.8 ICD-11:EC21.2 MeSH:C564143 OMIM:146520 OMIM:613981 UMLS:C1840299 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90368 Hypotrichosis simplex of the scalp ORPHA:90368 ICD-10:L65.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564143 E (Exact mapping: the two concepts are equivalent) OMIM:146520 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613981 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1840299 E (Exact mapping: the two concepts are equivalent) ICD-10:Q82.2 ICD-11:2A21.1Y MeSH:C000715747 MedDRA:10043192 UMLS:C0263402 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90389 Telangiectasia macularis eruptiva perstans Clinical subtype ORPHA:90389 ICD-10:Q82.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000715747 E (Exact mapping: the two concepts are equivalent) MedDRA:10043192 E (Exact mapping: the two concepts are equivalent) UMLS:C0263402 E (Exact mapping: the two concepts are equivalent) ICD-10:Q84.3 ICD-11:LD27.0Y MeSH:C536378 OMIM:107000 OMIM:614149 UMLS:C1862840 Autosomal dominant Autosomal recessive Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90390 Anonychia-onychodystrophy syndrome Clinical subtype ORPHA:90390 ICD-10:Q84.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536378 E (Exact mapping: the two concepts are equivalent) OMIM:107000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614149 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1862840 E (Exact mapping: the two concepts are equivalent) Atypical tuberous myxedema of Jadassohn-Dosseker Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. Orphanet ICD-10:L98.5 UMLS:C4273968 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90393 Nodular lichen myxedematosus ORPHA:90393 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4273968 E (Exact mapping: the two concepts are equivalent) Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. Orphanet ICD-10:L98.5 UMLS:C4273967 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90394 Discrete papular lichen myxedematosus ORPHA:90394 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4273967 E (Exact mapping: the two concepts are equivalent) Cutaneous mucinosis of infancy Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. Orphanet ICD-10:L98.5 UMLS:C4273966 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90395 Papular mucinosis of infancy ORPHA:90395 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4273966 E (Exact mapping: the two concepts are equivalent) A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms. Orphanet ICD-10:L98.5 ICD-11:EB90.1Y UMLS:C0406660 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90396 Acral persistent papular mucinosis ORPHA:90396 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0406660 E (Exact mapping: the two concepts are equivalent) Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness. Orphanet ICD-10:L98.5 ICD-11:EB90.1Y UMLS:C5681464 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90397 Self-healing papular mucinosis ORPHA:90397 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681464 E (Exact mapping: the two concepts are equivalent) Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms). Orphanet ICD-10:L98.5 ICD-11:EB90.11 UMLS:C5681465 Adult Elderly Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90398 Localized lichen myxedematosus with mixed features of different subtypes Clinical subtype ORPHA:90398 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681465 E (Exact mapping: the two concepts are equivalent) Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia. Orphanet ICD-10:L98.5 ICD-11:EB90.11 UMLS:C5681466 Adult Elderly Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Clinical subtype ORPHA:90399 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681466 E (Exact mapping: the two concepts are equivalent) Deletion 7q11.23 Monosomy 7q11.23 Williams-Beuren syndrome A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia. Orphanet ICD-10:Q93.8 ICD-11:LD44.70 MeSH:D018980 MedDRA:10049644 OMIM:194050 UMLS:C0175702 Autosomal dominant Antenatal Neonatal Hong Kong AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Hong Kong AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 13.3 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 13.3 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=904 Williams syndrome ORPHA:904 ICD-10:Q93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018980 E (Exact mapping: the two concepts are equivalent) MedDRA:10049644 E (Exact mapping: the two concepts are equivalent) OMIM:194050 E (Exact mapping: the two concepts are equivalent) UMLS:C0175702 E (Exact mapping: the two concepts are equivalent) Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent. Orphanet ICD-10:L98.5 ICD-11:EB90.11 UMLS:C5681463 Adolescent Adult Elderly Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90400 Scleromyxedema without monoclonal gammopathy Clinical subtype ORPHA:90400 ICD-10:L98.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EB90.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681463 E (Exact mapping: the two concepts are equivalent) Hepatolenticular degeneration A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body. Orphanet ICD-10:E83.0 ICD-11:5C64.00 MeSH:D006527 MedDRA:10019819 OMIM:277900 UMLS:C0019202 Autosomal recessive Adolescent Adult Childhood Elderly China AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.45 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 1.37 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 0.94 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-5 / 10 000 Specific population AND has_birth_prevalence_average_value : 13.5 AND has_birth_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 37.04 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 2.25 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.02 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=905 Wilson disease ORPHA:905 ICD-10:E83.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C64.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006527 E (Exact mapping: the two concepts are equivalent) MedDRA:10019819 E (Exact mapping: the two concepts are equivalent) OMIM:277900 E (Exact mapping: the two concepts are equivalent) UMLS:C0019202 E (Exact mapping: the two concepts are equivalent) Eczema-thrombocytopenia-immunodeficiency syndrome WAS A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. Orphanet ICD-10:D82.0 ICD-11:3B62.0Y MeSH:D014923 MedDRA:10047992 OMIM:301000 OMIM:600903 OMIM:614493 UMLS:C0043194 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Infancy Neonatal Australia AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 China AND has_point_prevalence_average_value : 0.0278 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.18 AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.55 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=906 Wiskott-Aldrich syndrome ORPHA:906 ICD-10:D82.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3B62.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D014923 E (Exact mapping: the two concepts are equivalent) MedDRA:10047992 E (Exact mapping: the two concepts are equivalent) OMIM:301000 E (Exact mapping: the two concepts are equivalent) OMIM:600903 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614493 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0043194 E (Exact mapping: the two concepts are equivalent) X-linked isolated neurosensory deafness type DFN X-linked isolated neurosensory hearing loss type DFN X-linked isolated sensorineural deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked non-syndromic neurosensory deafness type DFN X-linked non-syndromic neurosensory hearing loss type DFN X-linked non-syndromic sensorineural hearing loss type DFN ICD-10:H90.3 ICD-11:AB50 OMIM:300030 OMIM:300066 OMIM:300914 OMIM:304500 X-linked recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90625 Rare X-linked non-syndromic sensorineural deafness type DFN Etiological subtype ORPHA:90625 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:AB50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:300030 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300066 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300914 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:304500 BTNT (ORPHAcode is broader than the targeted code used to represent it) Autosomal dominant isolated neurosensory deafness type DFNA Autosomal dominant isolated neurosensory hearing loss type DFNA Autosomal dominant isolated sensorineural deafness type DFNA Autosomal dominant isolated sensorineural hearing loss type DFNA Autosomal dominant non-syndromic neurosensory deafness type DFNA Autosomal dominant non-syndromic neurosensory hearing loss type DFNA Autosomal dominant non-syndromic sensorineural hearing loss type DFNA ICD-10:H90.3 ICD-11:AB50 OMIM:600101 OMIM:600652 OMIM:600965 OMIM:600994 OMIM:601316 OMIM:601317 OMIM:601369 OMIM:601412 OMIM:601543 OMIM:601544 OMIM:601868 OMIM:602459 OMIM:603622 OMIM:603964 OMIM:604717 OMIM:605192 OMIM:605583 OMIM:606012 OMIM:606282 OMIM:606346 OMIM:606451 OMIM:606705 OMIM:607017 OMIM:607197 OMIM:607453 OMIM:607841 OMIM:608224 OMIM:608372 OMIM:608394 OMIM:608641 OMIM:608645 OMIM:608652 OMIM:609129 OMIM:609965 OMIM:612431 OMIM:612642 OMIM:612643 OMIM:612644 OMIM:613074 OMIM:613558 OMIM:614152 OMIM:614211 OMIM:614614 OMIM:615629 OMIM:615649 OMIM:615654 OMIM:616044 OMIM:616340 OMIM:616357 OMIM:616697 OMIM:616707 OMIM:616968 OMIM:616969 OMIM:617605 OMIM:617606 OMIM:617663 OMIM:618094 OMIM:618140 OMIM:618410 OMIM:618533 OMIM:618778 OMIM:618787 OMIM:618915 OMIM:619081 OMIM:619086 OMIM:619274 OMIM:620227 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Etiological subtype ORPHA:90635 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:AB50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:600101 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600652 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600965 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600994 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601316 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601317 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601369 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601412 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601543 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601544 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601868 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602459 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603622 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603964 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604717 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605192 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605583 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606012 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606282 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606346 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606451 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606705 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607017 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607197 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607453 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607841 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608224 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608372 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608394 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608641 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608645 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608652 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609129 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609965 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612431 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612642 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612643 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612644 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613074 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613558 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614152 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614211 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614614 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615629 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615649 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615654 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616044 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616340 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616357 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616697 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616707 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616968 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616969 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617605 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617606 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617663 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618094 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618140 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618410 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618533 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618778 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618787 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618915 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619081 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619086 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619274 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620227 BTNT (ORPHAcode is broader than the targeted code used to represent it) Autosomal recessive isolated neurosensory deafness type DFNB Autosomal recessive isolated neurosensory hearing loss type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive isolated sensorineural hearing loss type DFNB Autosomal recessive non-syndromic neurosensory deafness type DFNB Autosomal recessive non-syndromic neurosensory hearing loss type DFNB Autosomal recessive non-syndromic sensorineural hearing loss type DFNB ICD-10:H90.3 ICD-11:AB50 OMIM:220290 OMIM:600060 OMIM:600316 OMIM:600791 OMIM:600792 OMIM:600971 OMIM:600974 OMIM:601071 OMIM:601072 OMIM:601386 OMIM:601869 OMIM:602092 OMIM:603010 OMIM:603098 OMIM:603629 OMIM:603678 OMIM:603720 OMIM:604060 OMIM:605428 OMIM:605818 OMIM:607039 OMIM:607084 OMIM:607101 OMIM:607239 OMIM:607821 OMIM:608219 OMIM:608264 OMIM:608265 OMIM:608565 OMIM:608653 OMIM:609006 OMIM:609439 OMIM:609533 OMIM:609646 OMIM:609647 OMIM:609706 OMIM:609823 OMIM:609941 OMIM:609946 OMIM:609952 OMIM:610143 OMIM:610153 OMIM:610154 OMIM:610212 OMIM:610220 OMIM:610248 OMIM:610265 OMIM:610419 OMIM:611022 OMIM:611451 OMIM:612433 OMIM:612645 OMIM:612789 OMIM:613079 OMIM:613285 OMIM:613307 OMIM:613391 OMIM:613392 OMIM:613453 OMIM:613685 OMIM:613718 OMIM:613865 OMIM:613916 OMIM:614035 OMIM:614414 OMIM:614617 OMIM:614861 OMIM:614899 OMIM:614934 OMIM:614944 OMIM:614945 OMIM:615429 OMIM:615540 OMIM:615837 OMIM:615974 OMIM:616042 OMIM:616515 OMIM:616705 OMIM:617637 OMIM:617639 OMIM:617654 OMIM:618145 OMIM:618257 OMIM:618410 OMIM:618422 OMIM:618434 OMIM:618456 OMIM:618481 OMIM:619093 OMIM:619174 OMIM:619500 OMIM:619615 OMIM:619804 OMIM:620238 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Etiological subtype ORPHA:90636 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:AB50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:220290 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600060 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600316 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600791 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600792 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600971 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600974 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601071 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601072 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601386 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601869 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602092 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603010 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603098 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603629 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603678 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603720 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604060 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605428 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605818 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607039 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607084 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607101 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607239 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607821 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608219 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608264 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608265 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608565 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608653 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609006 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609439 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609533 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609646 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609647 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609706 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609823 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609941 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609946 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609952 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610143 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610153 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610154 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610212 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610220 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610248 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610265 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610419 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611022 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611451 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612433 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612645 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612789 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613079 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613285 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613307 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613391 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613392 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613453 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613685 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613718 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613865 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613916 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614035 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614414 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614617 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614861 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614899 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614934 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614944 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614945 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615429 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615540 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615837 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615974 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616042 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616515 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616705 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617637 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617639 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617654 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618145 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618257 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618410 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618422 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618434 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618456 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618481 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619093 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619174 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619615 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619804 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620238 BTNT (ORPHAcode is broader than the targeted code used to represent it) Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial sensorineural deafness Isolated mitochondrial sensorineural hearing loss Mitochondrial non-syndromic neurosensory deafness Mitochondrial non-syndromic neurosensory hearing loss Mitochondrial non-syndromic sensorineural hearing loss ICD-10:H90.3 ICD-11:8C73.Y OMIM:221745 OMIM:304400 OMIM:500008 OMIM:580000 Mitochondrial inheritance Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90641 Rare mitochondrial non-syndromic sensorineural deafness Etiological subtype ORPHA:90641 ICD-10:H90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:221745 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:304400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:500008 E (Exact mapping: the two concepts are equivalent) OMIM:580000 BTNT (ORPHAcode is broader than the targeted code used to represent it) Syndromic genetic hearing loss ICD-11:LD2H UMLS:C0395976 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90642 Syndromic genetic deafness Category ORPHA:90642 ICD-11:LD2H - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0395976 E (Exact mapping: the two concepts are equivalent) Hearing loss-hypogonadism syndrome A rare form of syndromic genetic deafness characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior. Orphanet ICD-10:H90.6 ICD-11:LD2H.Y MeSH:C564435 OMIM:304350 UMLS:C1844680 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90646 Deafness-hypogonadism syndrome ORPHA:90646 ICD-10:H90.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564435 E (Exact mapping: the two concepts are equivalent) OMIM:304350 E (Exact mapping: the two concepts are equivalent) UMLS:C1844680 E (Exact mapping: the two concepts are equivalent) Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias. Orphanet ICD-10:I45.8 ICD-11:BC65.0 MeSH:D029593 MedDRA:10057936 OMIM:220400 OMIM:612347 UMLS:C0022387 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90647 Jervell and Lange-Nielsen syndrome ORPHA:90647 ICD-10:I45.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D029593 E (Exact mapping: the two concepts are equivalent) MedDRA:10057936 E (Exact mapping: the two concepts are equivalent) OMIM:220400 E (Exact mapping: the two concepts are equivalent) OMIM:612347 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0022387 E (Exact mapping: the two concepts are equivalent) OFD7 Oral-facial-digital syndrome type 7 Whelan syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Orofaciodigital syndrome type 1 OMIM:608518 UMLS:C0796100 Orofaciodigital syndrome type 7 ORPHA:90649 OMIM:608518 E (Exact mapping: the two concepts are equivalent) UMLS:C0796100 E (Exact mapping: the two concepts are equivalent) OPD I syndrome OPD syndrome 1 Taybi syndrome A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Orphanet ICD-10:Q87.0 ICD-11:LD25.1 MeSH:C536065 OMIM:311300 UMLS:C0265251 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90650 Otopalatodigital syndrome type 1 ORPHA:90650 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536065 E (Exact mapping: the two concepts are equivalent) OMIM:311300 E (Exact mapping: the two concepts are equivalent) UMLS:C0265251 E (Exact mapping: the two concepts are equivalent) OPD II syndrome OPD syndrome 2 A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Orphanet ICD-10:Q87.0 ICD-11:LD25.1 MeSH:C538089 OMIM:304120 UMLS:C1844696 X-linked dominant Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90652 Otopalatodigital syndrome type 2 ORPHA:90652 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538089 E (Exact mapping: the two concepts are equivalent) OMIM:304120 E (Exact mapping: the two concepts are equivalent) UMLS:C1844696 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.5 ICD-11:LD2F.1Y MeSH:C537492 OMIM:108300 OMIM:609508 UMLS:C2020284 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90653 Stickler syndrome type 1 Clinical subtype ORPHA:90653 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537492 E (Exact mapping: the two concepts are equivalent) OMIM:108300 E (Exact mapping: the two concepts are equivalent) OMIM:609508 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2020284 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.5 ICD-11:LD2F.1Y MeSH:C537493 OMIM:604841 UMLS:C1858084 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90654 Stickler syndrome type 2 Clinical subtype ORPHA:90654 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537493 E (Exact mapping: the two concepts are equivalent) OMIM:604841 E (Exact mapping: the two concepts are equivalent) UMLS:C1858084 E (Exact mapping: the two concepts are equivalent) CMT1E Charcot-Marie-Tooth disease-deafness syndrome Charcot-Marie-Tooth disease-hearing loss syndrome A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C537986 OMIM:118300 UMLS:C2931686 Autosomal dominant Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90658 Charcot-Marie-Tooth disease type 1E ORPHA:90658 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537986 E (Exact mapping: the two concepts are equivalent) OMIM:118300 E (Exact mapping: the two concepts are equivalent) UMLS:C2931686 E (Exact mapping: the two concepts are equivalent) A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. Orphanet ICD-10:E03.1 ICD-11:5A00.01 MeSH:C576976 OMIM:275200 UMLS:C3493776 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90673 Hypothyroidism due to TSH receptor mutations ORPHA:90673 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C576976 E (Exact mapping: the two concepts are equivalent) OMIM:275200 E (Exact mapping: the two concepts are equivalent) UMLS:C3493776 E (Exact mapping: the two concepts are equivalent) Isolated TSH deficiency Isolated thyrotropin deficiency A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. Orphanet ICD-10:E03.1 ICD-11:5A00.01 MeSH:C000610012 OMIM:275100 UMLS:C4082174 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90674 Isolated thyroid-stimulating hormone deficiency ORPHA:90674 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C000610012 E (Exact mapping: the two concepts are equivalent) OMIM:275100 E (Exact mapping: the two concepts are equivalent) UMLS:C4082174 E (Exact mapping: the two concepts are equivalent) UMLS:C5681460 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90692 Rare endocrine growth disease Category ORPHA:90692 UMLS:C5681460 E (Exact mapping: the two concepts are equivalent) Genetic panhypopituitarism A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential. Orphanet ICD-10:E23.0 ICD-11:5A61.0 MedDRA:10033662 OMIM:262600 OMIM:312000 UMLS:C5680191 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90695 Non-acquired panhypopituitarism ORPHA:90695 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10033662 E (Exact mapping: the two concepts are equivalent) OMIM:262600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:312000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680191 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Ventricular familial preexcitation syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Wolff-Parkinson-White syndrome ORPHA:907 DSD Disorder of sex development MeSH:D012734 MedDRA:10070597 UMLS:C0036875 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90771 Difference of sex development Category ORPHA:90771 MeSH:D012734 E (Exact mapping: the two concepts are equivalent) MedDRA:10070597 E (Exact mapping: the two concepts are equivalent) UMLS:C0036875 E (Exact mapping: the two concepts are equivalent) 46,XX DSD induced by fetal androgens excess 46,XX disorder of sex development induced by fetal androgens excess UMLS:C5680189 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90776 46,XX difference of sex development induced by fetal androgens excess Category ORPHA:90776 UMLS:C5680189 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to a testosterone synthesis defect 46,XY disorder of sex development due to a testosterone synthesis defect UMLS:C5680188 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90783 46,XY difference of sex development due to a testosterone synthesis defect Category ORPHA:90783 UMLS:C5680188 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect UMLS:C5680187 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect Category ORPHA:90786 UMLS:C5680187 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to testicular steroidogenesis defect 46,XY disorder of sex development due to testicular steroidogenesis defect UMLS:C5680186 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90787 46,XY difference of sex development due to testicular steroidogenesis defect Category ORPHA:90787 UMLS:C5680186 E (Exact mapping: the two concepts are equivalent) CLAH LCAH Lipoid CAH A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. Orphanet ICD-10:E25.0 ICD-11:5A71.01 MeSH:C537027 OMIM:201710 UMLS:C0342474 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90790 Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537027 E (Exact mapping: the two concepts are equivalent) OMIM:201710 E (Exact mapping: the two concepts are equivalent) UMLS:C0342474 E (Exact mapping: the two concepts are equivalent) CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1. Orphanet ICD-10:E25.0 ICD-11:5A71.01 MeSH:C538236 OMIM:201810 UMLS:C0342471 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 68.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538236 E (Exact mapping: the two concepts are equivalent) OMIM:201810 E (Exact mapping: the two concepts are equivalent) UMLS:C0342471 E (Exact mapping: the two concepts are equivalent) CAH due to 17-alpha-hydroxylase deficiency Combined 17-hydroxylase/17,20-lyase deficiency A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients. Orphanet ICD-10:E25.0 ICD-11:5A71.01 MeSH:C538237 OMIM:202110 UMLS:C0268285 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538237 E (Exact mapping: the two concepts are equivalent) OMIM:202110 E (Exact mapping: the two concepts are equivalent) UMLS:C0268285 E (Exact mapping: the two concepts are equivalent) Classic 21-OHD CAH A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia. Orphanet ICD-10:E25.0 ICD-11:5A71.01 OMIM:201910 UMLS:C4273964 Autosomal recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Croatia AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 Estonia AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 9.2 AND has_birth_prevalence_range : 1-9 / 100 000 New Zealand AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Singapore AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 8.7 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:201910 E (Exact mapping: the two concepts are equivalent) UMLS:C4273964 E (Exact mapping: the two concepts are equivalent) CAH due to 11-beta-hydroxylase deficiency CYP11B1 deficiency A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. Orphanet ICD-10:E25.0 ICD-11:5A71.01 MeSH:C535978 MedDRA:10000002 OMIM:202010 UMLS:C0268292 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.47 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535978 E (Exact mapping: the two concepts are equivalent) MedDRA:10000002 E (Exact mapping: the two concepts are equivalent) OMIM:202010 E (Exact mapping: the two concepts are equivalent) UMLS:C0268292 E (Exact mapping: the two concepts are equivalent) 46,XY disorder of sex development due to isolated 17,20-lyase deficiency A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. Orphanet ICD-10:E29.1 ICD-11:LD2A.3 OMIM:202110 UMLS:C5681470 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796 ICD-10:E29.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:202110 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681470 E (Exact mapping: the two concepts are equivalent) PAIS Partial androgen resistance syndrome A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Orphanet ICD-10:E34.5 ICD-11:LD2A.4 OMIM:312300 UMLS:C0268301 X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90797 Partial androgen insensitivity syndrome ORPHA:90797 ICD-10:E34.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:312300 E (Exact mapping: the two concepts are equivalent) UMLS:C0268301 E (Exact mapping: the two concepts are equivalent) FRAXA syndrome FXS FraX syndrome Martin-Bell syndrome A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism. Orphanet ICD-10:Q99.2 ICD-11:LD55 MeSH:D005600 MedDRA:10017324 OMIM:300624 OMIM:311360 UMLS:C0016667 X-linked dominant Childhood Infancy Neonatal Canada AND has_birth_prevalence_average_value : 16.11 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 19.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 32.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=908 Fragile X syndrome ORPHA:908 ICD-10:Q99.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD55 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005600 E (Exact mapping: the two concepts are equivalent) MedDRA:10017324 E (Exact mapping: the two concepts are equivalent) OMIM:300624 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:311360 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0016667 E (Exact mapping: the two concepts are equivalent) CTX Sterol 27-hydroxylase deficiency Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. Orphanet ICD-10:E75.5 ICD-11:5C52.11 MeSH:D019294 OMIM:213700 UMLS:C0238052 Autosomal recessive Infancy Neonatal Spain AND has_point_prevalence_average_value : 0.056 AND has_point_prevalence_range : <1 / 1 000 000 Specific population AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=909 Cerebrotendinous xanthomatosis ORPHA:909 ICD-10:E75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C52.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019294 E (Exact mapping: the two concepts are equivalent) OMIM:213700 E (Exact mapping: the two concepts are equivalent) UMLS:C0238052 E (Exact mapping: the two concepts are equivalent) A heterogenous group of rare endocrine diseases characterized by a generalized or localized loss of adipose tissue (lipoatropy) associated with dysmetabolic alterations with insulin resistance, altered glucose tolerance or diabetes, and hypertriglyceridemia leading to a risk of acute pancreatitis. The diabetes leads to chronic complications involving the retina, kidney, nerves and cardiovascular system, and to liver steatosis that could result in cirrhosis. In some forms, lipoatrophy is associated with selective hypertrophy of other fat deposits. Clinical signs of insulin resistance (acanthosis nigricans and signs of hyperandrogenism) are often present. It has both genetic and acquired forms. Orphanet UMLS:C5681471 All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90970 Primary lipodystrophy Category ORPHA:90970 UMLS:C5681471 E (Exact mapping: the two concepts are equivalent) Congenital estrogen deficiency A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. Orphanet ICD-10:E25.8 ICD-11:5A9Y MeSH:C537436 OMIM:613546 UMLS:C1960539 Autosomal recessive All ages Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91 Aromatase deficiency ORPHA:91 ICD-10:E25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A9Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537436 E (Exact mapping: the two concepts are equivalent) OMIM:613546 E (Exact mapping: the two concepts are equivalent) UMLS:C1960539 E (Exact mapping: the two concepts are equivalent) Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms). Orphanet ICD-10:Q82.1 ICD-11:LD27.1 MeSH:D014983 MedDRA:10048220 OMIM:278700 OMIM:278720 OMIM:278730 OMIM:278740 OMIM:278760 OMIM:278780 OMIM:610651 UMLS:C0043346 Autosomal recessive All ages Europe AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.18 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Libyan Arab Jamahiriya AND has_annual_incidence_average_value : 1.75 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 0.41 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=910 Xeroderma pigmentosum ORPHA:910 ICD-10:Q82.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD27.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014983 E (Exact mapping: the two concepts are equivalent) MedDRA:10048220 E (Exact mapping: the two concepts are equivalent) OMIM:278700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278720 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278730 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278740 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278760 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:278780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610651 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0043346 E (Exact mapping: the two concepts are equivalent) AR-CMT2 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 ICD-11:8C20.1 UMLS:C5680194 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91024 Autosomal recessive axonal hereditary motor and sensory neuropathy Clinical group ORPHA:91024 ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680194 E (Exact mapping: the two concepts are equivalent) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91088 Other metabolic disease Category ORPHA:91088 Zeta-associated-protein 70 deficiency A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. Orphanet ICD-10:D81.8 ICD-11:4A01.1Y MeSH:C536722 OMIM:269840 UMLS:C2931299 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=911 Combined immunodeficiency due to ZAP70 deficiency ORPHA:911 ICD-10:D81.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536722 E (Exact mapping: the two concepts are equivalent) OMIM:269840 E (Exact mapping: the two concepts are equivalent) UMLS:C2931299 E (Exact mapping: the two concepts are equivalent) A rare viral disease characterized by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired <i>de novo</i> or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, hemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease, among others. Severity varies with age and immune status, and life-threatening courses may occur. Orphanet ICD-10:B34.0 UMLS:C5681468 Not applicable All ages Europe AND has_point_prevalence_average_value : 18.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91127 Adenovirus infection in immunocompromised patients ORPHA:91127 ICD-10:B34.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681468 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Complication after organ transplantation OBSOLETE: Graft rejection after lung transplantation ORPHA:91128 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Matthew-Wood syndrome Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome ORPHA:91129 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter. Orphanet ICD-10:G71.3 ICD-11:5C53.30 OMIM:610773 UMLS:C5681469 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome ORPHA:91130 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610773 E (Exact mapping: the two concepts are equivalent) UMLS:C5681469 E (Exact mapping: the two concepts are equivalent) CDG syndrome type Im CDG-Im CDG1M Carbohydrate deficient glycoprotein syndrome type Im Congenital disorder of glycosylation type 1m Congenital disorder of glycosylation type Im Dolichol kinase deficiency Hypotonia and ichthyosis due to dolichol phosphate deficiency DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the <i>de novo</i> biosynthesis of dolichol phosphate. The mutations identified in the <i>DK1</i> gene led to a 96 to 98% reduction in DK activity. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C563666 OMIM:610768 UMLS:C1835849 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91131 DK1-CDG ORPHA:91131 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563666 E (Exact mapping: the two concepts are equivalent) OMIM:610768 E (Exact mapping: the two concepts are equivalent) UMLS:C1835849 E (Exact mapping: the two concepts are equivalent) Hypotrichosis-congenital ichthyosis syndrome IFAH syndrome IHS Ichthyosis-follicular atrophoderma-hypotrichosis syndrome Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the <i>ST14</i> gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Orphanet ICD-10:Q80.8 ICD-11:LD27.2 OMIM:602400 UMLS:C4510566 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91132 Ichthyosis-hypotrichosis syndrome ORPHA:91132 ICD-10:Q80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:602400 E (Exact mapping: the two concepts are equivalent) UMLS:C4510566 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome ORPHA:91133 PXE-like syndrome Pseudoxanthoma elasticum-like syndrome A rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs. Orphanet ICD-10:D68.4 OMIM:610842 UMLS:C4049241 Autosomal recessive Unknown Adolescent Childhood Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency ORPHA:91135 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610842 E (Exact mapping: the two concepts are equivalent) UMLS:C4049241 E (Exact mapping: the two concepts are equivalent) Acquired Fanconi syndrome secondary to monoclonal gammopathy Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia. Orphanet ICD-10:E72.0 UMLS:C4510369 Not applicable Adult Elderly Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome ORPHA:91136 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510369 E (Exact mapping: the two concepts are equivalent) Immunotactoid or fibrillary glomerulonephritis Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. Orphanet UMLS:C5680195 Not applicable Adult Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91137 Immunotactoid or fibrillary glomerulopathy Clinical group ORPHA:91137 UMLS:C5680195 E (Exact mapping: the two concepts are equivalent) Essential cryoglobulinemia Essential mixed cryoglobulinemia Mixed cryoglobulinemia Primary cryoglobulinemia A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia. Orphanet ICD-10:D89.1 ICD-11:4A44.90 MedDRA:10027756 OMIM:123550 UMLS:C0340992 Not applicable All ages United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91138 Cryoglobulinemic vasculitis ORPHA:91138 ICD-10:D89.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A44.90 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10027756 E (Exact mapping: the two concepts are equivalent) OMIM:123550 E (Exact mapping: the two concepts are equivalent) UMLS:C0340992 E (Exact mapping: the two concepts are equivalent) Cryoglobulinemia type 1 Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. Orphanet ICD-10:D89.1 ICD-11:4B22 UMLS:C4510006 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91139 Simple cryoglobulinemia ORPHA:91139 ICD-10:D89.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4510006 E (Exact mapping: the two concepts are equivalent) Unspecified JIA Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. Orphanet ICD-10:M08.8 ICD-11:FA24.Y UMLS:C5680196 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91140 Unspecified juvenile idiopathic arthritis ORPHA:91140 ICD-10:M08.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FA24.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680196 E (Exact mapping: the two concepts are equivalent) 46,XX DSD induced by maternal-derived androgen 46,XX disorder of sex development induced by maternal-derived androgen ICD-11:5A71.1 UMLS:C5680197 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91144 46,XX difference of sex development induced by maternal-derived androgen Category ORPHA:91144 ICD-11:5A71.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680197 E (Exact mapping: the two concepts are equivalent) Cerebrohepatorenal syndrome Severe PBD-ZSD Severe peroxisome biogenesis disorder-Zellweger spectrum disorder ZS A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. Orphanet ICD-10:Q87.8 ICD-11:5C57.0 MeSH:D015211 MedDRA:10053684 OMIM:214100 OMIM:214110 OMIM:614859 OMIM:614862 OMIM:614866 OMIM:614870 OMIM:614872 OMIM:614876 OMIM:614882 OMIM:614883 OMIM:614886 OMIM:614887 OMIM:617370 UMLS:C0043459 Autosomal recessive Neonatal Israel AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=912 Zellweger syndrome ORPHA:912 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C57.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D015211 E (Exact mapping: the two concepts are equivalent) MedDRA:10053684 E (Exact mapping: the two concepts are equivalent) OMIM:214100 E (Exact mapping: the two concepts are equivalent) OMIM:214110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614859 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614862 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614866 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614870 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614872 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614876 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614882 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614883 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614886 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617370 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0043459 E (Exact mapping: the two concepts are equivalent) Gastrinoma Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. Orphanet ICD-10:E16.4 ICD-11:5A43.1 MeSH:D015043 MedDRA:10017852 UMLS:C0043515 Not applicable Adult Elderly Denmark AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.125 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=913 Zollinger-Ellison syndrome ORPHA:913 ICD-10:E16.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A43.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015043 E (Exact mapping: the two concepts are equivalent) MedDRA:10017852 E (Exact mapping: the two concepts are equivalent) UMLS:C0043515 E (Exact mapping: the two concepts are equivalent) Pituitary thyrotrophic adenoma TSH-oma Thyroid stimulating hormone-secreting pituitary adenoma Thyrotroph adenoma A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly. Orphanet ICD-10:D35.2 ICD-11:2F37.Y UMLS:C0346303 Adolescent Adult Childhood Elderly Sweden AND has_point_prevalence_average_value : 0.28 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91347 TSH-secreting pituitary adenoma ORPHA:91347 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F37.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0346303 E (Exact mapping: the two concepts are equivalent) Functioning pituitary gonadotropic adenoma Gonadotroph adenoma Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children). Orphanet ICD-10:D35.2 UMLS:C0346304 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91348 Functioning gonadotropic adenoma ORPHA:91348 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0346304 E (Exact mapping: the two concepts are equivalent) NFPA A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally. Orphanet ICD-10:D35.2 ICD-11:2F37.0 UMLS:C0338078 Not applicable Adolescent Adult Childhood Belgium AND has_point_prevalence_average_value : 94.0 AND has_point_prevalence_range : 6-9 / 10 000 Europe AND has_annual_incidence_average_value : 2.55 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 68.0 AND has_point_prevalence_range : 6-9 / 10 000 Sweden AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_average_value : 80.5 AND has_point_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 77.6 AND has_point_prevalence_range : 6-9 / 10 000 Worldwide AND has_annual_incidence_average_value : 1.05 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91349 Non-functioning pituitary adenoma ORPHA:91349 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F37.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0338078 E (Exact mapping: the two concepts are equivalent) A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea. Orphanet ICD-10:E23.0 UMLS:C5190782 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91350 Pituitary deficiency due to Rathke cleft cysts ORPHA:91350 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190782 E (Exact mapping: the two concepts are equivalent) Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction. Orphanet ICD-10:E23.0 ICD-11:5A61.0 UMLS:C5190781 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91351 Pituitary dermoid and epidermoid cysts ORPHA:91351 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190781 E (Exact mapping: the two concepts are equivalent) A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity. Orphanet ICD-10:C72.9 ICD-11:2A00.1Y MedDRA:10065852 UMLS:C1333813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91352 Germinoma of the central nervous system Clinical subtype ORPHA:91352 ICD-10:C72.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065852 E (Exact mapping: the two concepts are equivalent) UMLS:C1333813 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome or malformation associated with head and neck malformations OBSOLETE: Choristoma ORPHA:91353 Hypopituitarism due to empty sella turcica syndrome A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others. Orphanet ICD-10:E23.0 ICD-11:5A61.0 UMLS:C4275064 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91354 Pituitary deficiency due to empty sella turcica syndrome ORPHA:91354 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275064 E (Exact mapping: the two concepts are equivalent) Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs. Orphanet ICD-10:E23.0 ICD-11:5A61.0 MedDRA:10036297 UMLS:C0242342 Adult Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91355 Sheehan syndrome ORPHA:91355 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10036297 E (Exact mapping: the two concepts are equivalent) UMLS:C0242342 E (Exact mapping: the two concepts are equivalent) UMLS:C0266135 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91357 Duplication of the esophagus Clinical group ORPHA:91357 UMLS:C0266135 E (Exact mapping: the two concepts are equivalent) Congenital esophageal pouch A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations. Orphanet ICD-10:Q39.6 ICD-11:LB12.4 UMLS:C0266133 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91358 Congenital esophageal diverticulum ORPHA:91358 ICD-10:Q39.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB12.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0266133 E (Exact mapping: the two concepts are equivalent) CPI Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term). Orphanet ICD-10:J84.0 ICD-11:CB04.6 UMLS:C3872848 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91359 Chronic pneumonitis of infancy ORPHA:91359 ICD-10:J84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB04.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3872848 E (Exact mapping: the two concepts are equivalent) NSIP Non-specific idiopathic interstitial pneumonia A rare idiopathic interstitial pneumonia characterized by temporally uniform alveolar and interstitial mononuclear cell inflammation (cellular type) and/or fibrosis of the alveolar walls (fibrotic type) with preserved alveolar architecture. Other types of interstitial lung disease must be excluded. Symptoms are non-specific and include dyspnea, cough, and often constitutional symptoms such as fever and fatigue. Pulmonary function test reveals a restrictive pattern. Computed tomography shows predominantly lower lobe subpleural reticular changes, traction bronchiectasis, and ground-glass opacities. The cellular type of the disease is less common but carries a better prognosis. Orphanet ICD-10:J84.8 ICD-11:CB03.Y UMLS:C1290344 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91364 Non-specific interstitial pneumonia ORPHA:91364 ICD-10:J84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB03.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1290344 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Acquired ciliary dyskinesia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary ciliary dyskinesia OBSOLETE: Secondary ciliary dyskinesia ORPHA:91365 Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Orphanet ICD-11:4A00.14 MeSH:D054179 MedDRA:10019860 OMIM:106100 OMIM:610618 OMIM:619360 OMIM:619361 OMIM:619363 OMIM:619366 UMLS:C0019243 Autosomal dominant All ages Denmark AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.51 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 1.09 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91378 Hereditary angioedema Clinical group ORPHA:91378 ICD-11:4A00.14 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054179 E (Exact mapping: the two concepts are equivalent) MedDRA:10019860 E (Exact mapping: the two concepts are equivalent) OMIM:106100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610618 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619360 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619361 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619363 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619366 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0019243 E (Exact mapping: the two concepts are equivalent) AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. Orphanet ICD-11:4A00.15 MeSH:C538173 MedDRA:10081035 OMIM:300909 UMLS:C2931758 Not applicable Adult Denmark AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91385 Acquired angioedema Clinical group ORPHA:91385 ICD-11:4A00.15 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C538173 E (Exact mapping: the two concepts are equivalent) MedDRA:10081035 E (Exact mapping: the two concepts are equivalent) OMIM:300909 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931758 E (Exact mapping: the two concepts are equivalent) Familial TAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. Orphanet ICD-10:I71.2 ICD-11:LD28.0Y OMIM:132900 OMIM:607086 OMIM:607087 OMIM:609192 OMIM:610168 OMIM:611788 OMIM:613780 OMIM:614816 OMIM:615436 OMIM:615582 OMIM:616166 OMIM:617168 OMIM:619656 OMIM:619825 UMLS:C4707243 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91387 Familial thoracic aortic aneurysm and aortic dissection ORPHA:91387 ICD-10:I71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:132900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607086 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607087 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609192 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610168 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611788 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614816 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615436 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615582 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616166 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617168 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619656 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619825 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4707243 E (Exact mapping: the two concepts are equivalent) A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral crytophthalmia have been described. Orphanet ICD-10:Q11.2 ICD-11:LA14.01 OMIM:123570 UMLS:C4305274 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91396 Isolated cryptophthalmia ORPHA:91396 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA14.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:123570 E (Exact mapping: the two concepts are equivalent) UMLS:C4305274 E (Exact mapping: the two concepts are equivalent) Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors. Orphanet ICD-10:Q10.3 ICD-11:LA14.07 MeSH:C536373 UMLS:C1302999 Autosomal dominant Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91397 Isolated ankyloblepharon filiforme adnatum ORPHA:91397 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.07 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536373 E (Exact mapping: the two concepts are equivalent) UMLS:C1302999 E (Exact mapping: the two concepts are equivalent) Congenital ptosis is characterized by superior eyelid drop present at birth. Orphanet ICD-10:Q10.0 ICD-11:LA14.04 MedDRA:10015996 OMIM:178300 OMIM:300245 OMIM:616219 UMLS:C0266573 Autosomal dominant X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91411 Congenital ptosis ORPHA:91411 ICD-10:Q10.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA14.04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10015996 E (Exact mapping: the two concepts are equivalent) OMIM:178300 E (Exact mapping: the two concepts are equivalent) OMIM:300245 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616219 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C0266573 E (Exact mapping: the two concepts are equivalent) Jaw-winking syndrome Mandibulo-palpebral synkinesis-ptosis syndrome Marcus-Gunn phenomenon A rare ophthalmic disorder characterized by congenital ptosis associated with pterygoid-levator synkinesis (also called jaw-winking). Orphanet ICD-10:Q07.8 ICD-11:9A03.00 MeSH:C535908 MedDRA:10064583 OMIM:154600 UMLS:C0266521 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91412 Marcus-Gunn syndrome ORPHA:91412 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9A03.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535908 E (Exact mapping: the two concepts are equivalent) MedDRA:10064583 E (Exact mapping: the two concepts are equivalent) OMIM:154600 E (Exact mapping: the two concepts are equivalent) UMLS:C0266521 E (Exact mapping: the two concepts are equivalent) Congenital Claude-Bernard-Horner syndrome Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. Orphanet ICD-10:G90.2 ICD-11:8D8A.1 MeSH:C564178 MedDRA:10074554 OMIM:143000 UMLS:C1840475 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91413 Congenital Horner syndrome ORPHA:91413 ICD-10:G90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D8A.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564178 E (Exact mapping: the two concepts are equivalent) MedDRA:10074554 E (Exact mapping: the two concepts are equivalent) OMIM:143000 E (Exact mapping: the two concepts are equivalent) UMLS:C1840475 E (Exact mapping: the two concepts are equivalent) Epithelioma calcificans of Malherbe Pilomatricoma Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms). Orphanet ICD-10:D23.3 ICD-10:D23.4 ICD-10:D23.6 ICD-11:2F22 MeSH:D018296 MedDRA:10035040 OMIM:132600 UMLS:C0206711 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91414 Pilomatrixoma ORPHA:91414 ICD-10:D23.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D23.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D23.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018296 E (Exact mapping: the two concepts are equivalent) MedDRA:10035040 E (Exact mapping: the two concepts are equivalent) OMIM:132600 E (Exact mapping: the two concepts are equivalent) UMLS:C0206711 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Benign vascular tumor OBSOLETE: Familial capillary hemangioma ORPHA:91415 Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. Orphanet ICD-10:Q10.6 OMIM:103420 OMIM:601549 UMLS:C4273963 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91416 Isolated congenital alacrima ORPHA:91416 ICD-10:Q10.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:103420 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601549 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4273963 E (Exact mapping: the two concepts are equivalent) Ring dermoid syndrome Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the <i>PITX2</i> gene have been suggested as a potential cause of the condition. Orphanet ICD-10:D31.1 ICD-11:2F36.Y MeSH:C535684 OMIM:180550 UMLS:C1867155 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91481 Ring dermoid of cornea ORPHA:91481 ICD-10:D31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F36.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535684 E (Exact mapping: the two concepts are equivalent) OMIM:180550 E (Exact mapping: the two concepts are equivalent) UMLS:C1867155 E (Exact mapping: the two concepts are equivalent) Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term). Orphanet ICD-10:Q13.8 ICD-11:LA11.2 MedDRA:10059198 OMIM:137600 OMIM:601631 OMIM:602482 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91483 Rieger anomaly ORPHA:91483 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10059198 E (Exact mapping: the two concepts are equivalent) OMIM:137600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601631 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:602482 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Congenital anterior megalophthalmia Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. Orphanet ICD-10:Q15.8 ICD-11:LA11.1 OMIM:309300 UMLS:C4518341 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91489 Isolated congenital megalocornea ORPHA:91489 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309300 E (Exact mapping: the two concepts are equivalent) UMLS:C4518341 E (Exact mapping: the two concepts are equivalent) A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities. Orphanet ICD-10:Q13.3 ICD-11:LA11.1 OMIM:181700 UMLS:C5681467 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91490 Isolated congenital sclerocornea ORPHA:91490 ICD-10:Q13.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:181700 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681467 E (Exact mapping: the two concepts are equivalent) Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities. Orphanet ICD-10:Q13.8 ICD-11:LA14.03 UMLS:C1303012 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91491 Congenital ectropion uveae ORPHA:91491 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1303012 E (Exact mapping: the two concepts are equivalent) A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. Orphanet ICD-10:Q12.0 ICD-11:LA12.1 OMIM:115650 OMIM:115660 OMIM:115665 OMIM:115700 OMIM:115800 OMIM:115900 OMIM:116100 OMIM:116200 OMIM:116300 OMIM:116400 OMIM:116600 OMIM:116700 OMIM:116800 OMIM:212500 OMIM:302200 OMIM:600881 OMIM:601202 OMIM:601547 OMIM:601885 OMIM:604219 OMIM:604307 OMIM:605387 OMIM:605728 OMIM:605749 OMIM:607304 OMIM:609376 OMIM:609741 OMIM:610019 OMIM:610202 OMIM:610425 OMIM:610623 OMIM:611391 OMIM:611544 OMIM:611597 OMIM:613763 OMIM:614422 OMIM:614691 OMIM:615188 OMIM:615274 OMIM:615277 OMIM:616279 OMIM:616509 OMIM:616851 UMLS:C0009691 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91492 Early onset non-syndromic cataract ORPHA:91492 ICD-10:Q12.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA12.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:115650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:115660 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:115665 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:115700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:115800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:115900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:212500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:302200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600881 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601202 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601547 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601885 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604219 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604307 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605387 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605728 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605749 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609741 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610019 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610202 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610425 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610623 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611391 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611544 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611597 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613763 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614422 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614691 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615188 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615274 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615277 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616279 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616509 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616851 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0009691 E (Exact mapping: the two concepts are equivalent) Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. Orphanet ICD-10:Q87.8 OMIM:216800 UMLS:C4302525 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91494 Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:216800 E (Exact mapping: the two concepts are equivalent) UMLS:C4302525 E (Exact mapping: the two concepts are equivalent) Congenital retinal detachment NCRNA disease Non-syndromic congenital retinal non-attachment PFVS PHPV Persistent fetal vasculature syndrome A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes. Orphanet ICD-10:Q14.0 ICD-11:LA13.Y MeSH:D054514 OMIM:221900 OMIM:611308 UMLS:C0266568 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91495 Persistent hyperplastic primary vitreous ORPHA:91495 ICD-10:Q14.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054514 E (Exact mapping: the two concepts are equivalent) OMIM:221900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611308 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0266568 E (Exact mapping: the two concepts are equivalent) Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C536677 OMIM:193230 UMLS:C1860405 Autosomal dominant Adult Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91496 Snowflake vitreoretinal degeneration ORPHA:91496 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536677 E (Exact mapping: the two concepts are equivalent) OMIM:193230 E (Exact mapping: the two concepts are equivalent) UMLS:C1860405 E (Exact mapping: the two concepts are equivalent) A rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported. Orphanet ICD-10:H49.1 ICD-11:9C81.1 MeSH:C565007 OMIM:136480 UMLS:C1850996 Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91498 Familial congenital palsy of trochlear nerve ORPHA:91498 ICD-10:H49.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C565007 E (Exact mapping: the two concepts are equivalent) OMIM:136480 E (Exact mapping: the two concepts are equivalent) UMLS:C1850996 E (Exact mapping: the two concepts are equivalent) Aarskog syndrome Faciodigitogenital syndrome Faciogenital dysplasia A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y MeSH:C535331 MedDRA:10067148 OMIM:100050 OMIM:305400 UMLS:C0175701 Autosomal dominant Autosomal recessive X-linked recessive Childhood Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=915 Aarskog-Scott syndrome ORPHA:915 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535331 E (Exact mapping: the two concepts are equivalent) MedDRA:10067148 E (Exact mapping: the two concepts are equivalent) OMIM:100050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:305400 E (Exact mapping: the two concepts are equivalent) UMLS:C0175701 E (Exact mapping: the two concepts are equivalent) Dobrin syndrome TINU syndrome A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis. Orphanet ICD-10:N10 ICD-11:9A96.1 MeSH:C536922 MedDRA:10069034 OMIM:607665 UMLS:C1843273 Multigenic/multifactorial Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91500 Tubulointerstitial nephritis and uveitis syndrome ORPHA:91500 ICD-10:N10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A96.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536922 E (Exact mapping: the two concepts are equivalent) MedDRA:10069034 E (Exact mapping: the two concepts are equivalent) OMIM:607665 E (Exact mapping: the two concepts are equivalent) UMLS:C1843273 E (Exact mapping: the two concepts are equivalent) Lyme borreliosis Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by <i>Borrelia burgdorferi</i>. Orphanet ICD-10:A69.2 ICD-11:1C1G MeSH:D008193 MedDRA:10025169 UMLS:C0024198 Not applicable All ages Europe AND has_annual_incidence_average_value : 177.5 AND has_annual_incidence_range : >1 / 1000 Europe AND has_point_prevalence_range : Unknown France AND has_annual_incidence_average_value : 16.6 AND has_annual_incidence_range : 1-5 / 10 000 Hungary AND has_annual_incidence_average_value : 12.37 AND has_annual_incidence_range : 1-5 / 10 000 Sweden AND has_annual_incidence_average_value : 36.0 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_annual_incidence_average_value : 100.0 AND has_annual_incidence_range : >1 / 1000 Worldwide AND has_annual_incidence_average_value : 21.9 AND has_annual_incidence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91546 Lyme disease ORPHA:91546 ICD-10:A69.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1G - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008193 E (Exact mapping: the two concepts are equivalent) MedDRA:10025169 E (Exact mapping: the two concepts are equivalent) UMLS:C0024198 E (Exact mapping: the two concepts are equivalent) Relapsing fever is an infection caused by bacteria of the genus <i>Borrelia</i>, excluding those responsible for Lyme disease (see this term) belonging to the <i>Borrelia burgdorferi</i> complex. Orphanet ICD-10:A68.0 ICD-10:A68.1 ICD-10:A68.9 ICD-11:1C1J MeSH:D012061 MedDRA:10038300 UMLS:C0035021 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=91547 Relapsing fever ORPHA:91547 ICD-10:A68.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A68.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A68.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C1J - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012061 E (Exact mapping: the two concepts are equivalent) MedDRA:10038300 E (Exact mapping: the two concepts are equivalent) UMLS:C0035021 E (Exact mapping: the two concepts are equivalent) Aase-Smith I syndrome Hydrocephalus-cleft palate-joint contractures syndrome A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Orphanet ICD-10:Q87.8 MeSH:C535332 MedDRA:10063429 OMIM:147800 UMLS:C0220686 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=916 Aase-Smith syndrome ORPHA:916 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535332 E (Exact mapping: the two concepts are equivalent) MedDRA:10063429 E (Exact mapping: the two concepts are equivalent) OMIM:147800 E (Exact mapping: the two concepts are equivalent) UMLS:C0220686 E (Exact mapping: the two concepts are equivalent) Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Waardenburg-Shah syndrome MeSH:C535334 OMIM:600501 UMLS:C1838099 ABCD syndrome ORPHA:918 MeSH:C535334 E (Exact mapping: the two concepts are equivalent) OMIM:600501 E (Exact mapping: the two concepts are equivalent) UMLS:C1838099 E (Exact mapping: the two concepts are equivalent) Juvenile chronic arthritis Juvenile rheumatoid arthritis A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin. Orphanet ICD-11:FA24 MeSH:D001171 MedDRA:10059176 UMLS:C3495559 Childhood Czech Republic AND has_annual_incidence_average_value : 13.0 AND has_annual_incidence_range : 1-5 / 10 000 Czech Republic AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 74.6 AND has_point_prevalence_range : 6-9 / 10 000 United States AND has_point_prevalence_average_value : 8.9 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 7.8 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 20.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=92 Juvenile idiopathic arthritis Clinical group ORPHA:92 ICD-11:FA24 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001171 E (Exact mapping: the two concepts are equivalent) MedDRA:10059176 E (Exact mapping: the two concepts are equivalent) UMLS:C3495559 E (Exact mapping: the two concepts are equivalent) An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MeSH:C535557 MedDRA:10083860 OMIM:200110 UMLS:C1860224 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=920 Ablepharon macrostomia syndrome ORPHA:920 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535557 E (Exact mapping: the two concepts are equivalent) MedDRA:10083860 E (Exact mapping: the two concepts are equivalent) OMIM:200110 E (Exact mapping: the two concepts are equivalent) UMLS:C1860224 E (Exact mapping: the two concepts are equivalent) IED Intestinal epithelial dysplasia Non-syndromic congenital tufting enteropathy Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. Orphanet ICD-10:P78.3 ICD-11:DA90.Y OMIM:613217 UMLS:C4275062 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=92050 Congenital tufting enteropathy ORPHA:92050 ICD-10:P78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613217 E (Exact mapping: the two concepts are equivalent) UMLS:C4275062 E (Exact mapping: the two concepts are equivalent) CHARGE-like syndrome Cleft palate-coloboma-deafness syndrome Cleft palate-coloboma-hearing loss syndrome An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Orphanet ICD-10:Q87.8 MeSH:C535559 OMIM:302905 UMLS:C1844862 X-linked recessive Antenatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=921 Abruzzo-Erickson syndrome ORPHA:921 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535559 E (Exact mapping: the two concepts are equivalent) OMIM:302905 E (Exact mapping: the two concepts are equivalent) UMLS:C1844862 E (Exact mapping: the two concepts are equivalent) Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. Orphanet ICD-10:Q30.8 UMLS:C4706505 Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=922 Familial nasal acilia ORPHA:922 ICD-10:Q30.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706505 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:L83 NON RARE IN EUROPE: Acanthosis nigricans ORPHA:924 ICD-10:L83 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Catalase deficiency A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. Orphanet ICD-10:E80.3 ICD-11:5C57.1 MeSH:D020642 MedDRA:10086141 OMIM:614097 UMLS:C0268419 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=926 Acatalasemia ORPHA:926 ICD-10:E80.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C57.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D020642 E (Exact mapping: the two concepts are equivalent) MedDRA:10086141 E (Exact mapping: the two concepts are equivalent) OMIM:614097 E (Exact mapping: the two concepts are equivalent) UMLS:C0268419 E (Exact mapping: the two concepts are equivalent) NAGS deficiency A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy. Orphanet ICD-10:E72.2 ICD-11:5C50.AY MeSH:C536109 MedDRA:10071092 OMIM:237310 UMLS:C0268543 Autosomal recessive All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 99.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=927 Hyperammonemia due to N-acetylglutamate synthase deficiency ORPHA:927 ICD-10:E72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.AY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536109 E (Exact mapping: the two concepts are equivalent) MedDRA:10071092 E (Exact mapping: the two concepts are equivalent) OMIM:237310 E (Exact mapping: the two concepts are equivalent) UMLS:C0268543 E (Exact mapping: the two concepts are equivalent) An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Orphanet ICD-10:Q39.5 MeSH:C536010 OMIM:200450 UMLS:C1860212 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=929 Achalasia-microcephaly syndrome ORPHA:929 ICD-10:Q39.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536010 E (Exact mapping: the two concepts are equivalent) OMIM:200450 E (Exact mapping: the two concepts are equivalent) UMLS:C1860212 E (Exact mapping: the two concepts are equivalent) Aspartylglucosaminidase deficiency A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Orphanet ICD-10:E77.1 ICD-11:5C56.21 MeSH:D054880 MedDRA:10068220 OMIM:208400 UMLS:C0268225 Autosomal recessive Childhood Australia AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Finland AND has_birth_prevalence_average_value : 3.35 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93 Aspartylglucosaminuria ORPHA:93 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054880 E (Exact mapping: the two concepts are equivalent) MedDRA:10068220 E (Exact mapping: the two concepts are equivalent) OMIM:208400 E (Exact mapping: the two concepts are equivalent) UMLS:C0268225 E (Exact mapping: the two concepts are equivalent) Achalasia cardia Idiopathic achalasia of esophagus Primary achalasia Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. Orphanet ICD-10:K22.0 ICD-11:DA21.0 MeSH:C536011 MedDRA:10036669 OMIM:200400 UMLS:C0859976 Autosomal recessive Not applicable All ages Canada AND has_annual_incidence_average_value : 1.63 AND has_annual_incidence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 10.82 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.73 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_point_prevalence_average_value : 8.7 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 13.5 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 1.59 AND has_annual_incidence_range : 1-9 / 100 000 Korea, Republic of AND has_annual_incidence_average_value : 0.39 AND has_annual_incidence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 6.29 AND has_point_prevalence_range : 1-9 / 100 000 Singapore AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000 Singapore AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.77 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=930 Idiopathic achalasia ORPHA:930 ICD-10:K22.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DA21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536011 E (Exact mapping: the two concepts are equivalent) MedDRA:10036669 E (Exact mapping: the two concepts are equivalent) OMIM:200400 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0859976 E (Exact mapping: the two concepts are equivalent) Isolated acheiropody An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. Orphanet ICD-10:Q74.8 ICD-11:LB9B MeSH:C536014 OMIM:200500 UMLS:C0265559 Autosomal recessive Antenatal Neonatal Brazil AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Brazil AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=931 Isolated acheiropodia ORPHA:931 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB9B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536014 E (Exact mapping: the two concepts are equivalent) OMIM:200500 E (Exact mapping: the two concepts are equivalent) UMLS:C0265559 E (Exact mapping: the two concepts are equivalent) A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. Orphanet ICD-10:Q60.0 ICD-11:LB30.00 MedDRA:10053624 OMIM:617805 UMLS:C0266294 Autosomal dominant All ages Antenatal Europe AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93100 Renal agenesis, unilateral Clinical subtype ORPHA:93100 ICD-10:Q60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB30.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10053624 E (Exact mapping: the two concepts are equivalent) OMIM:617805 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0266294 E (Exact mapping: the two concepts are equivalent) A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nephrons. Orphanet ICD-10:Q60.3 ICD-10:Q60.4 ICD-10:Q60.5 ICD-11:LB30.0Y MedDRA:10049102 UMLS:C0266295 Autosomal dominant Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93101 Renal hypoplasia ORPHA:93101 ICD-10:Q60.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q60.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q60.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB30.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10049102 E (Exact mapping: the two concepts are equivalent) UMLS:C0266295 E (Exact mapping: the two concepts are equivalent) Kidney dysplasia A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity. Orphanet ICD-10:Q61.4 ICD-11:LB30.1 MedDRA:10038433 UMLS:C3536714 Autosomal dominant Not applicable All ages Antenatal Europe AND has_birth_prevalence_average_value : 43.5 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93108 Renal dysplasia ORPHA:93108 ICD-10:Q61.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB30.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10038433 E (Exact mapping: the two concepts are equivalent) UMLS:C3536714 E (Exact mapping: the two concepts are equivalent) Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. Orphanet ICD-10:Q63.8 ICD-11:LB31.Y UMLS:C5545379 Unknown All ages Worldwide AND has_cases/families_value : 25.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93109 Congenital megacalycosis ORPHA:93109 ICD-10:Q63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5545379 E (Exact mapping: the two concepts are equivalent) PUV A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. Orphanet ICD-10:Q64.2 ICD-11:LB31.2 MedDRA:10036369 OMIM:618612 UMLS:C0238506 Autosomal recessive Not applicable X-linked recessive All ages Australia AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 4.125 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93110 Posterior urethral valve ORPHA:93110 ICD-10:Q64.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10036369 E (Exact mapping: the two concepts are equivalent) OMIM:618612 E (Exact mapping: the two concepts are equivalent) UMLS:C0238506 E (Exact mapping: the two concepts are equivalent) ADTKD-HNF1B HNF1B-MODY HNF1B-related nephropathy MODY5 Maturity-onset diabetes of the young type 5 RCAD syndrome Renal cysts and diabetes syndrome Renal dysfunction-early-onset diabetes syndrome A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of <i>HNF1B</i>, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations. Orphanet ICD-10:N11.8 ICD-11:5A13.6 MeSH:C535520 OMIM:137920 UMLS:C0431693 Autosomal dominant Adolescent Adult Antenatal Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease Clinical subtype ORPHA:93111 ICD-10:N11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A13.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535520 E (Exact mapping: the two concepts are equivalent) OMIM:137920 E (Exact mapping: the two concepts are equivalent) UMLS:C0431693 E (Exact mapping: the two concepts are equivalent) CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). Orphanet ICD-10:G60.0 ICD-11:8C20.2 OMIM:614455 UMLS:C4302667 Autosomal dominant Not applicable No data available Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ORPHA:93114 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614455 E (Exact mapping: the two concepts are equivalent) UMLS:C4302667 E (Exact mapping: the two concepts are equivalent) A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abnormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and distinguished by the absence of immune deposits on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis. Orphanet ICD-10:N05.7 ICD-11:MF84 UMLS:C0343196 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93126 Pauci-immune glomerulonephritis ORPHA:93126 ICD-10:N05.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF84 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0343196 E (Exact mapping: the two concepts are equivalent) HVDRR Hereditary vitamin D-resistant rickets VDDR II VDRR II Vitamin D-dependent rickets type II Vitamin D-resistant rickets type II A rare genetic, disorder of vitamin D metabolism characterized by hypocalcemia, severe rickets and in many cases alopecia. Orphanet ICD-10:E83.3 ICD-11:5C63.21 OMIM:277440 OMIM:600785 OMIM:619073 UMLS:C3536983 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93160 Hypocalcemic vitamin D-resistant rickets ORPHA:93160 ICD-10:E83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C63.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:277440 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600785 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619073 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3536983 E (Exact mapping: the two concepts are equivalent) Secondary pseudohypoaldosteronism TPHA A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake. Orphanet ICD-10:N15.8 ICD-11:GB90.4Y UMLS:C4273962 Not applicable Infancy Worldwide AND has_cases/families_value : 152.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93164 Transient pseudohypoaldosteronism ORPHA:93164 ICD-10:N15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4273962 E (Exact mapping: the two concepts are equivalent) Kidney dysplasia, unilateral A form of renal dysplasia (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults. Orphanet ICD-10:Q61.4 ICD-11:LB30.1 UMLS:C0431697 Autosomal dominant Not applicable All ages Europe AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93172 Renal dysplasia, unilateral Clinical subtype ORPHA:93172 ICD-10:Q61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431697 E (Exact mapping: the two concepts are equivalent) Kidney dysplasia, bilateral A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high. Orphanet ICD-10:Q61.4 ICD-11:LB30.1 UMLS:C0431698 Autosomal dominant Not applicable All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93173 Renal dysplasia, bilateral Clinical subtype ORPHA:93173 ICD-10:Q61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431698 E (Exact mapping: the two concepts are equivalent) ICD-10:Q63.8 ICD-11:LB31.Y UMLS:C5681456 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93176 Unilateral congenital megacalycosis Clinical subtype ORPHA:93176 ICD-10:Q63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681456 E (Exact mapping: the two concepts are equivalent) ICD-10:Q63.8 ICD-11:LB31.Y UMLS:C5681455 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93177 Congenital bilateral megacalycosis Clinical subtype ORPHA:93177 ICD-10:Q63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB31.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681455 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Prune belly syndrome OBSOLETE: Partial prune belly syndrome ORPHA:93178 A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. Orphanet ICD-10:Q77.0 ICD-11:LD24.50 MeSH:C579878 MedDRA:10066122 OMIM:200600 OMIM:200610 OMIM:600972 UMLS:C0001079 Autosomal dominant Autosomal recessive Antenatal Neonatal Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=932 Achondrogenesis ORPHA:932 ICD-10:Q77.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C579878 E (Exact mapping: the two concepts are equivalent) MedDRA:10066122 E (Exact mapping: the two concepts are equivalent) OMIM:200600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:200610 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600972 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0001079 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic steroid-sensitive nephrotic syndrome OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis ORPHA:93206 OBSOLETE: Steroid-sensitive MCNS This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic steroid-sensitive nephrotic syndrome OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change ORPHA:93207 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic steroid-sensitive nephrotic syndrome OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation ORPHA:93209 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis ORPHA:93213 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation ORPHA:93214 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes ORPHA:93216 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis ORPHA:93217 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis ORPHA:93218 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis ORPHA:93220 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes ORPHA:93221 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation ORPHA:93222 FXTAS syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. Orphanet ICD-10:G11.2 ICD-11:8A03.1Y MeSH:C564105 OMIM:300623 UMLS:C1839780 X-linked dominant Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_lifetime_prevalence_average_value : 6.3 AND has_lifetime_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93256 Fragile X-associated tremor/ataxia syndrome ORPHA:93256 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564105 E (Exact mapping: the two concepts are equivalent) OMIM:300623 E (Exact mapping: the two concepts are equivalent) UMLS:C1839780 E (Exact mapping: the two concepts are equivalent) Classic Pfeiffer syndrome ICD-10:Q87.0 ICD-11:LD24.G0 OMIM:101600 UMLS:C5438812 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93258 Pfeiffer syndrome type 1 Clinical subtype ORPHA:93258 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:101600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5438812 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.0 ICD-11:LD24.G0 OMIM:101600 UMLS:C5438849 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93259 Pfeiffer syndrome type 2 Clinical subtype ORPHA:93259 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:101600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5438849 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.0 ICD-11:LD24.G0 OMIM:101600 UMLS:C5438850 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93260 Pfeiffer syndrome type 3 Clinical subtype ORPHA:93260 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.G0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:101600 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5438850 E (Exact mapping: the two concepts are equivalent) Crouzon-dermoskeletal syndrome Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term). Orphanet ICD-10:Q75.1 ICD-11:LD24.GY MeSH:C567382 OMIM:612247 UMLS:C2677099 Autosomal dominant Not applicable Neonatal Worldwide AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93262 Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262 ICD-10:Q75.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567382 E (Exact mapping: the two concepts are equivalent) OMIM:612247 E (Exact mapping: the two concepts are equivalent) UMLS:C2677099 E (Exact mapping: the two concepts are equivalent) This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C564611 OMIM:607161 UMLS:C1846671 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93267 Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564611 E (Exact mapping: the two concepts are equivalent) OMIM:607161 E (Exact mapping: the two concepts are equivalent) UMLS:C1846671 E (Exact mapping: the two concepts are equivalent) Short rib-polydactyly syndrome type 4 A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others. Orphanet ICD-10:Q77.2 ICD-11:LD24.B0 MeSH:C537599 OMIM:269860 UMLS:C0432198 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93268 Short rib-polydactyly syndrome, Beemer-Langer type ORPHA:93268 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.B0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537599 E (Exact mapping: the two concepts are equivalent) OMIM:269860 E (Exact mapping: the two concepts are equivalent) UMLS:C0432198 E (Exact mapping: the two concepts are equivalent) Short rib-polydactyly syndrome type 2 A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period. Orphanet ICD-10:Q77.2 ICD-11:LD24.B0 OMIM:263520 OMIM:613091 UMLS:C0024507 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93269 Short rib-polydactyly syndrome, Majewski type ORPHA:93269 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.B0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:263520 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613091 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0024507 E (Exact mapping: the two concepts are equivalent) Short rib-polydactyly syndrome type 1 A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Orphanet ICD-10:Q77.2 ICD-11:LD24.B0 OMIM:613091 UMLS:C0036069 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93270 Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.B0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613091 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0036069 E (Exact mapping: the two concepts are equivalent) Short rib-polydactyly syndrome type 3 A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period. Orphanet ICD-10:Q77.2 ICD-11:LD24.B0 MeSH:C537602 OMIM:613091 OMIM:614091 OMIM:615503 OMIM:615633 UMLS:C0432197 Autosomal recessive Antenatal Neonatal United Arab Emirates AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000 United Arab Emirates AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93271 Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271 ICD-10:Q77.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.B0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537602 E (Exact mapping: the two concepts are equivalent) OMIM:613091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614091 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615503 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615633 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432197 E (Exact mapping: the two concepts are equivalent) Cloverleaf skull-micromelic bone dysplasia syndrome TD2 Thanatophoric dwarfism type 2 Thanatophoric dwarfism-cloverleaf skull syndrome A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression. Orphanet ICD-10:Q77.1 ICD-11:LD24.02 MeSH:C536508 OMIM:156830 OMIM:187601 UMLS:C1300257 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93274 Thanatophoric dysplasia type 2 Clinical subtype ORPHA:93274 ICD-10:Q77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536508 E (Exact mapping: the two concepts are equivalent) OMIM:156830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:187601 E (Exact mapping: the two concepts are equivalent) UMLS:C1300257 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cartilage-hair hypoplasia MeSH:C536506 OMIM:273680 UMLS:C1848865 Thanatophoric dysplasia, Glasgow variant ORPHA:93275 MeSH:C536506 E (Exact mapping: the two concepts are equivalent) OMIM:273680 E (Exact mapping: the two concepts are equivalent) UMLS:C1848865 E (Exact mapping: the two concepts are equivalent) ICD-10:Q78.1 ICD-11:FB80.0 MeSH:D005359 MedDRA:10036120 UMLS:C0016065 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93276 Polyostotic fibrous dysplasia Clinical subtype ORPHA:93276 ICD-10:Q78.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005359 E (Exact mapping: the two concepts are equivalent) MedDRA:10036120 E (Exact mapping: the two concepts are equivalent) UMLS:C0016065 E (Exact mapping: the two concepts are equivalent) Jaffe-Lichtenstein disease ICD-10:M85.0 ICD-11:FB80.0 MeSH:D005358 UMLS:C0016064 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93277 Monostotic fibrous dysplasia Clinical subtype ORPHA:93277 ICD-10:M85.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB80.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005358 E (Exact mapping: the two concepts are equivalent) UMLS:C0016064 E (Exact mapping: the two concepts are equivalent) Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:604864 UMLS:C4275063 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis ORPHA:93279 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:604864 E (Exact mapping: the two concepts are equivalent) UMLS:C4275063 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to CHST3-related skeletal dysplasia MeSH:C535789 UMLS:C1837657 Spondyloepiphyseal dysplasia, Omani type ORPHA:93280 MeSH:C535789 E (Exact mapping: the two concepts are equivalent) UMLS:C1837657 E (Exact mapping: the two concepts are equivalent) Spondyloepimetaphyseal dysplasia, Pakistani type Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C567551 OMIM:612847 UMLS:C2748515 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type ORPHA:93282 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567551 E (Exact mapping: the two concepts are equivalent) OMIM:612847 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2748515 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C564252 OMIM:608361 UMLS:C1842149 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93283 Spondyloepiphyseal dysplasia, Kimberley type ORPHA:93283 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564252 E (Exact mapping: the two concepts are equivalent) OMIM:608361 E (Exact mapping: the two concepts are equivalent) UMLS:C1842149 E (Exact mapping: the two concepts are equivalent) Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:184100 OMIM:271600 OMIM:313400 Autosomal dominant Autosomal recessive X-linked recessive Adolescent Adult Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93284 Spondyloepiphyseal dysplasia tarda ORPHA:93284 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:184100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:271600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:313400 BTNT (ORPHAcode is broader than the targeted code used to represent it) Pancreatic adenoma A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally. Orphanet ICD-10:D13.6 MeSH:C538110 MedDRA:10058902 UMLS:C1142432 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93292 Adenoma of pancreas ORPHA:93292 ICD-10:D13.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538110 E (Exact mapping: the two concepts are equivalent) MedDRA:10058902 E (Exact mapping: the two concepts are equivalent) UMLS:C1142432 E (Exact mapping: the two concepts are equivalent) Duane-radial ray syndrome A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:607323 UMLS:C1623209 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93293 Okihiro syndrome ORPHA:93293 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607323 E (Exact mapping: the two concepts are equivalent) UMLS:C1623209 E (Exact mapping: the two concepts are equivalent) Achondrogenesis, Langer-Saldino type A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. Orphanet ICD-10:Q77.0 ICD-11:LD24.50 MeSH:C536017 OMIM:200610 UMLS:C0220685 Autosomal dominant Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93296 Achondrogenesis type 2 Clinical subtype ORPHA:93296 ICD-10:Q77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536017 E (Exact mapping: the two concepts are equivalent) OMIM:200610 E (Exact mapping: the two concepts are equivalent) UMLS:C0220685 E (Exact mapping: the two concepts are equivalent) ICD-10:Q77.0 ICD-11:LD24.51 MeSH:C563007 OMIM:200610 UMLS:C0542428 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93297 Hypochondrogenesis Clinical subtype ORPHA:93297 ICD-10:Q77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C563007 E (Exact mapping: the two concepts are equivalent) OMIM:200610 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0542428 E (Exact mapping: the two concepts are equivalent) Achondrogenesis, Parenti-Fraccaro type A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. Orphanet ICD-10:Q77.0 ICD-11:LD24.50 MeSH:C536016 OMIM:600972 UMLS:C0265274 Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93298 Achondrogenesis type 1B Clinical subtype ORPHA:93298 ICD-10:Q77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536016 E (Exact mapping: the two concepts are equivalent) OMIM:600972 E (Exact mapping: the two concepts are equivalent) UMLS:C0265274 E (Exact mapping: the two concepts are equivalent) Achondrogenesis, Houston-Harris type A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. Orphanet ICD-10:Q77.0 ICD-11:LD24.50 MeSH:C536015 OMIM:200600 UMLS:C0265273 Autosomal recessive Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93299 Achondrogenesis type 1A Clinical subtype ORPHA:93299 ICD-10:Q77.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536015 E (Exact mapping: the two concepts are equivalent) OMIM:200600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265273 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive brachyolmia OMIM:271530 Brachyolmia type 1, Hobaek type ORPHA:93301 OMIM:271530 E (Exact mapping: the two concepts are equivalent) Brachyolmia type 2 A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989. Orphanet ICD-10:Q76.3 ICD-11:LD24.5Y MeSH:C563218 OMIM:613678 UMLS:C5399913 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93302 Brachyolmia, Maroteaux type ORPHA:93302 ICD-10:Q76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563218 E (Exact mapping: the two concepts are equivalent) OMIM:613678 E (Exact mapping: the two concepts are equivalent) UMLS:C5399913 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive brachyolmia OMIM:271630 Brachyolmia type 1, Toledo type ORPHA:93303 OMIM:271630 E (Exact mapping: the two concepts are equivalent) Brachyolmia type 3 A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Orphanet ICD-10:Q76.3 ICD-11:LD24.5Y MeSH:C562963 OMIM:113500 UMLS:C0432227 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93304 Autosomal dominant brachyolmia ORPHA:93304 ICD-10:Q76.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562963 E (Exact mapping: the two concepts are equivalent) OMIM:113500 E (Exact mapping: the two concepts are equivalent) UMLS:C0432227 E (Exact mapping: the two concepts are equivalent) Autosomal recessive multiple epiphyseal dysplasia EDM4 MED4 Polyepiphyseal dysplasia type 4 rMED Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. Orphanet ICD-10:Q77.3 ICD-11:LD24.61 MeSH:C535504 OMIM:226900 UMLS:C1847593 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93307 Multiple epiphyseal dysplasia type 4 ORPHA:93307 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535504 E (Exact mapping: the two concepts are equivalent) OMIM:226900 E (Exact mapping: the two concepts are equivalent) UMLS:C1847593 E (Exact mapping: the two concepts are equivalent) EDM1 MED1 Polyepiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. Orphanet ICD-10:Q77.3 ICD-11:LD24.61 MeSH:C535501 OMIM:132400 UMLS:C1838280 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93308 Multiple epiphyseal dysplasia type 1 ORPHA:93308 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535501 E (Exact mapping: the two concepts are equivalent) OMIM:132400 E (Exact mapping: the two concepts are equivalent) UMLS:C1838280 E (Exact mapping: the two concepts are equivalent) BHMED Bilateral hereditary micro-epiphyseal dysplasia EDM5 MED5 Polyepiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. Orphanet ICD-10:Q77.3 ICD-11:LD24.61 MeSH:C535505 OMIM:607078 UMLS:C1846843 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 18.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93311 Multiple epiphyseal dysplasia type 5 ORPHA:93311 ICD-10:Q77.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535505 E (Exact mapping: the two concepts are equivalent) OMIM:607078 E (Exact mapping: the two concepts are equivalent) UMLS:C1846843 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple epiphyseal dysplasia OBSOLETE: Multiple epiphyseal dysplasia, unclassified type ORPHA:93313 Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Orphanet ICD-10:Q77.8 ICD-11:LD24.4 MeSH:C535797 OMIM:184252 UMLS:C0265280 Autosomal dominant Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93314 Spondylometaphyseal dysplasia, Kozlowski type ORPHA:93314 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535797 E (Exact mapping: the two concepts are equivalent) OMIM:184252 E (Exact mapping: the two concepts are equivalent) UMLS:C0265280 E (Exact mapping: the two concepts are equivalent) Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). Orphanet ICD-10:Q77.8 ICD-11:LD24.4 MeSH:C535793 OMIM:184255 UMLS:C0432221 Autosomal dominant Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93315 Spondylometaphyseal dysplasia, 'corner fracture' type ORPHA:93315 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535793 E (Exact mapping: the two concepts are equivalent) OMIM:184255 E (Exact mapping: the two concepts are equivalent) UMLS:C0432221 E (Exact mapping: the two concepts are equivalent) Spondylometaphyseal dysplasia with severe genu valgum Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. Orphanet ICD-10:Q77.8 ICD-11:LD24.4 MeSH:C535794 OMIM:184253 UMLS:C1866688 Autosomal dominant Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93316 Spondylometaphyseal dysplasia, Schmidt type ORPHA:93316 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535794 E (Exact mapping: the two concepts are equivalent) OMIM:184253 E (Exact mapping: the two concepts are equivalent) UMLS:C1866688 E (Exact mapping: the two concepts are equivalent) A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. Orphanet ICD-10:Q77.8 ICD-11:LD24.5Y MeSH:C535798 OMIM:250220 UMLS:C1855229 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93317 Spondylometaphyseal dysplasia, Sedaghatian type ORPHA:93317 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535798 E (Exact mapping: the two concepts are equivalent) OMIM:250220 E (Exact mapping: the two concepts are equivalent) UMLS:C1855229 E (Exact mapping: the two concepts are equivalent) Isolated congenital longitudinal deficiency of the ulna Isolated ulnar clubhand Isolated ulnar deficiency of forearm Isolated ulnar longitudinal meromelia A rare congenital limb malformation characterized by complete or partial absence of the ulna. Orphanet ICD-10:Q71.5 ICD-11:LB99.3 UMLS:C0265583 Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93320 Isolated ulnar hemimelia ORPHA:93320 ICD-10:Q71.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB99.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265583 E (Exact mapping: the two concepts are equivalent) Isolated congenital longitudinal deficiency of the radius Isolated radial club hand Isolated radial longitidinal meromelia Isolated radial ray agenesis A rare congenital limb malformation characterized by partial or total absence of the radius. Orphanet ICD-10:Q71.4 ICD-11:LB99.2 UMLS:C0265581 Multigenic/multifactorial X-linked recessive Antenatal Infancy Neonatal Worldwide AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93321 Isolated radial hemimelia ORPHA:93321 ICD-10:Q71.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB99.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265581 E (Exact mapping: the two concepts are equivalent) Isolated congenital absence of tibia Isolated congenital aplasia and dysplasia of the tibia with intact fibula Isolated congenital longitudinal deficiency of the tibia Isolated tibial longitudinal meromelia A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula. Orphanet ICD-10:Q72.5 ICD-11:LB9A.1 MeSH:C535563 OMIM:275220 UMLS:C0265633 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93322 Isolated tibial hemimelia ORPHA:93322 ICD-10:Q72.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535563 E (Exact mapping: the two concepts are equivalent) OMIM:275220 E (Exact mapping: the two concepts are equivalent) UMLS:C0265633 E (Exact mapping: the two concepts are equivalent) Isolated congenital longitudinal deficiency of the fibula Isolated fibular deficiency Isolated fibular longitudinal meromelia A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot. Orphanet ICD-10:Q72.6 ICD-11:LB9A.2 UMLS:C0265634 Not applicable Antenatal Worldwide AND has_birth_prevalence_average_value : 1.1033 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.1033 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93323 Isolated fibular hemimelia ORPHA:93323 ICD-10:Q72.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265634 E (Exact mapping: the two concepts are equivalent) A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia. Orphanet ICD-10:Q87.1 ICD-11:LD24.D MeSH:C537021 OMIM:244460 UMLS:C1855648 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93324 Autosomal recessive Kenny-Caffey syndrome Etiological subtype ORPHA:93324 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537021 E (Exact mapping: the two concepts are equivalent) OMIM:244460 E (Exact mapping: the two concepts are equivalent) UMLS:C1855648 E (Exact mapping: the two concepts are equivalent) A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal. Orphanet ICD-10:Q87.1 ICD-11:LD24.D OMIM:127000 UMLS:C5681457 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93325 Autosomal dominant Kenny-Caffey syndrome Etiological subtype ORPHA:93325 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:127000 E (Exact mapping: the two concepts are equivalent) UMLS:C5681457 E (Exact mapping: the two concepts are equivalent) ICD-10:Q78.8 ICD-11:LD24.A MeSH:C567664 OMIM:164745 UMLS:C2750355 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93328 Autosomal dominant omodysplasia Clinical subtype ORPHA:93328 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567664 E (Exact mapping: the two concepts are equivalent) OMIM:164745 E (Exact mapping: the two concepts are equivalent) UMLS:C2750355 E (Exact mapping: the two concepts are equivalent) Micromelic dysplasia-dislocation of radius syndrome ICD-10:Q78.8 ICD-11:LD24.A MeSH:C537746 OMIM:258315 UMLS:C1850318 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93329 Autosomal recessive omodysplasia Clinical subtype ORPHA:93329 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537746 E (Exact mapping: the two concepts are equivalent) OMIM:258315 E (Exact mapping: the two concepts are equivalent) UMLS:C1850318 E (Exact mapping: the two concepts are equivalent) Cousin syndrome Familial pelvis-scapular dysplasia Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Orphanet ICD-10:Q87.5 MeSH:C535550 OMIM:260660 UMLS:C1850040 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93333 Pelviscapular dysplasia ORPHA:93333 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535550 E (Exact mapping: the two concepts are equivalent) OMIM:260660 E (Exact mapping: the two concepts are equivalent) UMLS:C1850040 E (Exact mapping: the two concepts are equivalent) A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies. Orphanet ICD-10:Q69.0 ICD-11:LB78.2 OMIM:174200 OMIM:263450 OMIM:602085 OMIM:607324 OMIM:608562 OMIM:615226 OMIM:617642 OMIM:618219 OMIM:618498 UMLS:C3887487 Autosomal recessive Antenatal Mexico AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000 Mexico AND has_point_prevalence_average_value : 15.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93334 Postaxial polydactyly type A ORPHA:93334 ICD-10:Q69.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:174200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:263450 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602085 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607324 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608562 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615226 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617642 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618219 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618498 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3887487 E (Exact mapping: the two concepts are equivalent) A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral. Orphanet ICD-10:Q69.0 ICD-11:LB78.2 OMIM:174200 UMLS:C1868120 Antenatal Mexico AND has_birth_prevalence_average_value : 43.5 AND has_birth_prevalence_range : 1-5 / 10 000 Mexico AND has_point_prevalence_average_value : 43.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93335 Postaxial polydactyly type B ORPHA:93335 ICD-10:Q69.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB78.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:174200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1868120 E (Exact mapping: the two concepts are equivalent) PPD2 Preaxial polydactyly type 2 Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms). Orphanet ICD-10:Q69.1 ICD-11:LD26.2 OMIM:174500 UMLS:C1868114 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93336 Polydactyly of a triphalangeal thumb ORPHA:93336 ICD-10:Q69.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:174500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1868114 E (Exact mapping: the two concepts are equivalent) PPD3 Preaxial polydactyly type 3 Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962. Orphanet ICD-10:Q69.0 ICD-11:LB78.Y MeSH:C566784 OMIM:174600 UMLS:C1868113 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93337 Polydactyly of an index finger ORPHA:93337 ICD-10:Q69.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB78.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566784 E (Exact mapping: the two concepts are equivalent) OMIM:174600 E (Exact mapping: the two concepts are equivalent) UMLS:C1868113 E (Exact mapping: the two concepts are equivalent) PPD4 Preaxial polydactyly type 4 Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. Orphanet ICD-10:Q70.4 ICD-11:LB78.1 MedDRA:10063143 OMIM:174700 UMLS:C0265553 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93338 Polysyndactyly ORPHA:93338 ICD-10:Q70.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB78.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10063143 E (Exact mapping: the two concepts are equivalent) OMIM:174700 E (Exact mapping: the two concepts are equivalent) UMLS:C0265553 E (Exact mapping: the two concepts are equivalent) PPD1 Preaxial polydactyly type 1 A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right. Orphanet ICD-10:Q69.1 ICD-11:LB78.0 MeSH:C536332 OMIM:174400 UMLS:C1395852 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93339 Polydactyly of a biphalangeal thumb and/or hallux ORPHA:93339 ICD-10:Q69.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB78.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536332 E (Exact mapping: the two concepts are equivalent) OMIM:174400 E (Exact mapping: the two concepts are equivalent) UMLS:C1395852 E (Exact mapping: the two concepts are equivalent) Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C537501 OMIM:184250 UMLS:C5681459 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type ORPHA:93346 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537501 E (Exact mapping: the two concepts are equivalent) OMIM:184250 E (Exact mapping: the two concepts are equivalent) UMLS:C5681459 E (Exact mapping: the two concepts are equivalent) Spondyloepimetaphyseal dysplasia, Menger type Spondyloepimetaphyseal dysplasia, anauxetic type A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C538256 OMIM:607095 OMIM:617396 OMIM:618853 UMLS:C1846796 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93347 Anauxetic dysplasia ORPHA:93347 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538256 E (Exact mapping: the two concepts are equivalent) OMIM:607095 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617396 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618853 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1846796 E (Exact mapping: the two concepts are equivalent) A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C564714 OMIM:300106 UMLS:C1848097 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93349 X-linked spondyloepimetaphyseal dysplasia ORPHA:93349 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564714 E (Exact mapping: the two concepts are equivalent) OMIM:300106 E (Exact mapping: the two concepts are equivalent) UMLS:C1848097 E (Exact mapping: the two concepts are equivalent) SEMD, Irapa type Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C562958 OMIM:271650 UMLS:C0432213 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93351 Spondyloepimetaphyseal dysplasia, Irapa type ORPHA:93351 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562958 E (Exact mapping: the two concepts are equivalent) OMIM:271650 E (Exact mapping: the two concepts are equivalent) UMLS:C0432213 E (Exact mapping: the two concepts are equivalent) SEMD, Shohat type Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C566523 OMIM:602557 UMLS:C1865185 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93352 Spondyloepimetaphyseal dysplasia, Shohat type ORPHA:93352 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566523 E (Exact mapping: the two concepts are equivalent) OMIM:602557 E (Exact mapping: the two concepts are equivalent) UMLS:C1865185 E (Exact mapping: the two concepts are equivalent) SEMD type 2 SEMD, Missouri type Spondyloepimetaphyseal dysplasia type 2 Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C566574 OMIM:602111 UMLS:C1865832 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93356 Spondyloepimetaphyseal dysplasia, Missouri type ORPHA:93356 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566574 E (Exact mapping: the two concepts are equivalent) OMIM:602111 E (Exact mapping: the two concepts are equivalent) UMLS:C1865832 E (Exact mapping: the two concepts are equivalent) Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia Spondyloepimetaphyseal dysplasia, Sponastrime type A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535786 OMIM:271510 UMLS:C1300260 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93357 SPONASTRIME dysplasia ORPHA:93357 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535786 E (Exact mapping: the two concepts are equivalent) OMIM:271510 E (Exact mapping: the two concepts are equivalent) UMLS:C1300260 E (Exact mapping: the two concepts are equivalent) Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:271665 UMLS:C4707851 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ORPHA:93358 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:271665 E (Exact mapping: the two concepts are equivalent) UMLS:C4707851 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity ORPHA:93359 SEMD-MD SEMDJL2 Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepimetaphyseal dysplasia with joint laxity type 2 Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535784 OMIM:603546 UMLS:C1863732 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535784 E (Exact mapping: the two concepts are equivalent) OMIM:603546 E (Exact mapping: the two concepts are equivalent) UMLS:C1863732 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using CINCA syndrome OBSOLETE: CINCA syndrome with NLRP3 mutations ORPHA:93365 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using CINCA syndrome OBSOLETE: CINCA syndrome without NLRP3 mutations ORPHA:93367 FHH type 1 ICD-10:E83.5 ICD-11:5A51.2 MeSH:C537145 MedDRA:10068704 OMIM:145980 UMLS:C0342637 Autosomal dominant All ages United Kingdom AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 74.1 AND has_point_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_average_value : 5.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93372 Familial hypocalciuric hypercalcemia type 1 Etiological subtype ORPHA:93372 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537145 E (Exact mapping: the two concepts are equivalent) MedDRA:10068704 E (Exact mapping: the two concepts are equivalent) OMIM:145980 E (Exact mapping: the two concepts are equivalent) UMLS:C0342637 E (Exact mapping: the two concepts are equivalent) Acromesomelic dysplasia, Osebold-Remondini type Osebold-Remondini syndrome A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C537092 OMIM:112910 UMLS:C1862130 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93382 Brachydactyly type A6 ORPHA:93382 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537092 E (Exact mapping: the two concepts are equivalent) OMIM:112910 E (Exact mapping: the two concepts are equivalent) UMLS:C1862130 E (Exact mapping: the two concepts are equivalent) A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 OMIM:113000 OMIM:611377 UMLS:C1300267 Autosomal dominant Antenatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93383 Brachydactyly type B ORPHA:93383 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:113000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611377 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1300267 E (Exact mapping: the two concepts are equivalent) A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C537093 OMIM:113100 UMLS:C1862103 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93384 Brachydactyly type C ORPHA:93384 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537093 E (Exact mapping: the two concepts are equivalent) OMIM:113100 E (Exact mapping: the two concepts are equivalent) UMLS:C1862103 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Brachydactyly type D ORPHA:93385 Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C566194 OMIM:113300 OMIM:613382 UMLS:C4315392 Autosomal dominant Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93387 Brachydactyly type E ORPHA:93387 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566194 E (Exact mapping: the two concepts are equivalent) OMIM:113300 E (Exact mapping: the two concepts are equivalent) OMIM:613382 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4315392 E (Exact mapping: the two concepts are equivalent) Brachydactyly, Farabee type A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C537088 OMIM:112500 OMIM:607004 OMIM:615072 OMIM:616849 UMLS:C1862151 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93388 Brachydactyly type A1 ORPHA:93388 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537088 E (Exact mapping: the two concepts are equivalent) OMIM:112500 E (Exact mapping: the two concepts are equivalent) OMIM:607004 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615072 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616849 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1862151 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Brachydactyly type B UMLS:C1862138 Brachydactyly type A5 ORPHA:93389 UMLS:C1862138 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Brachydactyly-clinodactyly NON RARE IN EUROPE: Brachymesophalangy V This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Brachydactyly type A3 ORPHA:93393 Brachydactyly, Temtamy type Brachymesophalangy II and V A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C537097 OMIM:112800 UMLS:C1862139 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93394 Brachydactyly type A4 ORPHA:93394 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537097 E (Exact mapping: the two concepts are equivalent) OMIM:112800 E (Exact mapping: the two concepts are equivalent) UMLS:C1862139 E (Exact mapping: the two concepts are equivalent) Brachydactyly, combined B and E types Pitt-Williams brachydactyly This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Brachydactyly type E OMIM:112440 UMLS:C1862163 Ballard syndrome ORPHA:93395 OMIM:112440 E (Exact mapping: the two concepts are equivalent) UMLS:C1862163 E (Exact mapping: the two concepts are equivalent) Brachydactyly, Mohr-Wriedt type A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MeSH:C537089 OMIM:112600 UMLS:C1832702 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93396 Brachydactyly type A2 ORPHA:93396 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537089 E (Exact mapping: the two concepts are equivalent) OMIM:112600 E (Exact mapping: the two concepts are equivalent) UMLS:C1832702 E (Exact mapping: the two concepts are equivalent) Brachydactyly, Smorgasbord type A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 UMLS:C4303991 Infancy Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93397 Brachydactyly type A7 ORPHA:93397 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4303991 E (Exact mapping: the two concepts are equivalent) Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Orphanet ICD-10:Q78.4 ICD-11:LD24.2Y OMIM:137360 UMLS:C4511481 Childhood Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93398 Genochondromatosis type 2 ORPHA:93398 ICD-10:Q78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:137360 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4511481 E (Exact mapping: the two concepts are equivalent) ICD-10:E77.1 ICD-11:5C56.21 OMIM:256550 UMLS:C5681598 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93399 Juvenile sialidosis type 2 Clinical subtype ORPHA:93399 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:256550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681598 E (Exact mapping: the two concepts are equivalent) ICD-10:E77.1 ICD-11:5C56.21 OMIM:256550 UMLS:C5681599 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93400 Congenital sialidosis type 2 Clinical subtype ORPHA:93400 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:256550 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681599 E (Exact mapping: the two concepts are equivalent) A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Orphanet ICD-10:Q70.1 ICD-10:Q70.3 ICD-11:LB79.Y MeSH:C566096 OMIM:185900 UMLS:C1861380 Autosomal dominant Infancy Neonatal Europe AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93402 Syndactyly type 1 ORPHA:93402 ICD-10:Q70.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566096 E (Exact mapping: the two concepts are equivalent) OMIM:185900 E (Exact mapping: the two concepts are equivalent) UMLS:C1861380 E (Exact mapping: the two concepts are equivalent) Synpolydactyly A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly. Orphanet ICD-10:Q70.0 ICD-10:Q70.2 ICD-11:LB79.Y MeSH:C538153 OMIM:608180 OMIM:610234 UMLS:C2699746 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93403 Syndactyly type 2 ORPHA:93403 ICD-10:Q70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538153 E (Exact mapping: the two concepts are equivalent) OMIM:608180 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610234 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2699746 E (Exact mapping: the two concepts are equivalent) SD3 Syndactyly of fingers 4 and 5 A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected. Orphanet ICD-10:Q70.1 ICD-11:LB79.Y MeSH:C538154 OMIM:186100 UMLS:C1861366 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93404 Syndactyly type 3 ORPHA:93404 ICD-10:Q70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538154 E (Exact mapping: the two concepts are equivalent) OMIM:186100 E (Exact mapping: the two concepts are equivalent) UMLS:C1861366 E (Exact mapping: the two concepts are equivalent) Polysyndactyly, Haas type A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected. Orphanet ICD-10:Q70.4 ICD-11:LB79.Y MeSH:C566092 OMIM:186200 UMLS:C1861355 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93405 Syndactyly type 4 ORPHA:93405 ICD-10:Q70.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566092 E (Exact mapping: the two concepts are equivalent) OMIM:186200 E (Exact mapping: the two concepts are equivalent) UMLS:C1861355 E (Exact mapping: the two concepts are equivalent) Postaxial syndactyly with metacarpal synostosis SD5 A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. Orphanet ICD-10:Q70.0 ICD-10:Q70.2 ICD-11:LB79.Y MeSH:C538155 OMIM:186300 UMLS:C1861348 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93406 Syndactyly type 5 ORPHA:93406 ICD-10:Q70.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q70.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB79.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538155 E (Exact mapping: the two concepts are equivalent) OMIM:186300 E (Exact mapping: the two concepts are equivalent) UMLS:C1861348 E (Exact mapping: the two concepts are equivalent) Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Orphanet ICD-10:Q73.8 ICD-11:LD26.2 OMIM:610713 UMLS:C4303990 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93409 Brachydactyly-syndactyly, Zhao type ORPHA:93409 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:610713 E (Exact mapping: the two concepts are equivalent) UMLS:C4303990 E (Exact mapping: the two concepts are equivalent) UMLS:C5681602 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93419 Rare bone disease Category Head of classification ORPHA:93419 UMLS:C5681602 E (Exact mapping: the two concepts are equivalent) UMLS:C5681604 United States AND has_birth_prevalence_average_value : 8.1 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93420 FGFR3-related chondrodysplasia Category ORPHA:93420 UMLS:C5681604 E (Exact mapping: the two concepts are equivalent) UMLS:C5681603 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93421 Type 2 collagen-related bone disorder Category ORPHA:93421 UMLS:C5681603 E (Exact mapping: the two concepts are equivalent) UMLS:C5681606 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93422 Type 11 collagen-related bone disorder Category ORPHA:93422 UMLS:C5681606 E (Exact mapping: the two concepts are equivalent) UMLS:C5681607 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93423 Sulfation-related bone disorder Category ORPHA:93423 UMLS:C5681607 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Proteoglycan-related bone disorder OBSOLETE: Perlecan-related bone disorder ORPHA:93424 Bone filaminopathy UMLS:C5680280 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93425 Filamin-related bone disorder Category ORPHA:93425 UMLS:C5680280 E (Exact mapping: the two concepts are equivalent) SRP Short rib dysplasia OMIM:617405 UMLS:C0432195 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93426 Ciliopathies with major skeletal involvement Category ORPHA:93426 OMIM:617405 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432195 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Metatropic dysplasia OBSOLETE: Metatropic dysplasias ORPHA:93427 ICD-11:LD24.6 UMLS:C5681609 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93429 Multiple epiphyseal dysplasia and pseudoachondroplasia Category ORPHA:93429 ICD-11:LD24.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681609 E (Exact mapping: the two concepts are equivalent) ICD-11:LD24.7 UMLS:C5681610 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93430 Multiple metaphyseal dysplasia Clinical group ORPHA:93430 ICD-11:LD24.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681610 E (Exact mapping: the two concepts are equivalent) ICD-11:LD24.5 UMLS:C4736216 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93434 Spondylodysplastic dysplasia Clinical group ORPHA:93434 ICD-11:LD24.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736216 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Spondylodysplastic dysplasia OBSOLETE: Moderate spondylodysplastic dysplasia ORPHA:93435 ICD-11:LD24.8 UMLS:C4736195 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93436 Acromelic dysplasia Clinical group ORPHA:93436 ICD-11:LD24.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736195 E (Exact mapping: the two concepts are equivalent) ICD-11:LD24.9 MeSH:C535658 MedDRA:10083866 UMLS:C5235036 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93437 Acromesomelic dysplasia Clinical group ORPHA:93437 ICD-11:LD24.9 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535658 E (Exact mapping: the two concepts are equivalent) MedDRA:10083866 E (Exact mapping: the two concepts are equivalent) UMLS:C5235036 E (Exact mapping: the two concepts are equivalent) ICD-11:LD24.A UMLS:C5681611 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93438 Mesomelic and rhizo-mesomelic dysplasia Clinical group ORPHA:93438 ICD-11:LD24.A - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681611 E (Exact mapping: the two concepts are equivalent) Bent bone dysplasia OMIM:614592 OMIM:620076 UMLS:C0432238 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93439 Campomelic dysplasia and related disorders Clinical group ORPHA:93439 OMIM:614592 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620076 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432238 E (Exact mapping: the two concepts are equivalent) ICD-11:LD24.D UMLS:C4736215 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93440 Slender bone dysplasia Clinical group ORPHA:93440 ICD-11:LD24.D - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736215 E (Exact mapping: the two concepts are equivalent) Primary osteodysplasia with multiple joint dislocations Primary skeletal dysplasia with multiple joint dislocations ICD-11:LD24.E UMLS:C5680275 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93441 Primary bone dysplasia with multiple joint dislocations Clinical group ORPHA:93441 ICD-11:LD24.E - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680275 E (Exact mapping: the two concepts are equivalent) CDP ICD-11:LD24.04 MeSH:D002806 MedDRA:10087150 UMLS:C0008445 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93442 Chondrodysplasia punctata Clinical group ORPHA:93442 ICD-11:LD24.04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002806 E (Exact mapping: the two concepts are equivalent) MedDRA:10087150 E (Exact mapping: the two concepts are equivalent) UMLS:C0008445 E (Exact mapping: the two concepts are equivalent) UMLS:C1300205 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93443 Neonatal osteosclerotic dysplasia Clinical group ORPHA:93443 UMLS:C1300205 E (Exact mapping: the two concepts are equivalent) Primary osteodysplasia with increased bone density Primary skeletal dysplasia with increased bone density Sclerosing bone dysplasia UMLS:C5680274 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93444 Primary bone dysplasia with increased bone density Category ORPHA:93444 UMLS:C5680274 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Primary bone dysplasia with increased bone density OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement ORPHA:93445 Primary osteodysplasia with decreased bone density Primary skeletal dysplasia with decreased bone density UMLS:C5680273 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93446 Primary bone dysplasia with decreased bone density Category ORPHA:93446 UMLS:C5680273 E (Exact mapping: the two concepts are equivalent) Primary osteodysplasia with defective bone mineralization Primary skeletal dysplasia with defective bone mineralization UMLS:C5680272 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93447 Primary bone dysplasia with defective bone mineralization Category ORPHA:93447 UMLS:C5680272 E (Exact mapping: the two concepts are equivalent) Dysostosis multiplex https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93448 Lysosomal storage disease with skeletal involvement Category ORPHA:93448 UMLS:C5559806 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93449 Primary osteolysis Category ORPHA:93449 UMLS:C5559806 E (Exact mapping: the two concepts are equivalent) Primary osteodysplasia with disorganized development of skeletal components Primary skeletal dysplasia with disorganized development of skeletal components UMLS:C5680276 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93450 Primary bone dysplasia with disorganized development of skeletal components Category ORPHA:93450 UMLS:C5680276 E (Exact mapping: the two concepts are equivalent) UMLS:C5681593 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93451 Cleidocranial dysplasia and isolated cranial ossification defect Category ORPHA:93451 UMLS:C5681593 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic craniosynostosis OBSOLETE: Craniosynostosis syndrome or cranial ossification disease ORPHA:93452 ICD-11:LD25.3 UMLS:C5681592 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93453 Dysostosis with predominant craniofacial involvement Category ORPHA:93453 ICD-11:LD25.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681592 E (Exact mapping: the two concepts are equivalent) ICD-11:LD24.H UMLS:C5681591 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93454 Dysostosis with predominant vertebral and costal involvement Category ORPHA:93454 ICD-11:LD24.H - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681591 E (Exact mapping: the two concepts are equivalent) UMLS:C5681590 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93455 Patellar dysostosis Category ORPHA:93455 UMLS:C5681590 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Brachydactyly with or without extraskeletal manifestations This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Dysostosis with brachydactyly OBSOLETE: Brachydactyly group ORPHA:93456 Non-syndromic limb hypoplasia ICD-11:LB99 ICD-11:LB9A ICD-11:LB9B UMLS:C5680277 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93457 Non-syndromic limb reduction defect Category ORPHA:93457 ICD-11:LB99 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9A - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB9B - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680277 E (Exact mapping: the two concepts are equivalent) UMLS:C5681597 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy Category ORPHA:93458 UMLS:C5681597 E (Exact mapping: the two concepts are equivalent) UMLS:C5681596 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93459 Syndrome with synostosis or other joint formation defect Category ORPHA:93459 UMLS:C5681596 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.3 ICD-11:LD2C UMLS:C2986703 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93460 Overgrowth syndrome Category ORPHA:93460 ICD-10:Q87.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD2C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2986703 E (Exact mapping: the two concepts are equivalent) UMLS:C5681595 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93461 Chromosomal disease with overgrowth Category ORPHA:93461 UMLS:C5681595 E (Exact mapping: the two concepts are equivalent) UMLS:C5681594 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93465 Lethal chondrodysplasia Category ORPHA:93465 UMLS:C5681594 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Dysostosis with limb anomaly as a major feature OBSOLETE: Limb-girdle bone anomaly ORPHA:93466 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Primary bone dysplasia with micromelia OBSOLETE: Harmonic micromelia ORPHA:93469 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Primary bone dysplasia with micromelia OBSOLETE: Dysharmonic micromelia ORPHA:93470 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Lysosomal storage disease with skeletal involvement OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly ORPHA:93471 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome OBSOLETE: Dysmorphic syndrome associated with bone anomaly ORPHA:93472 Hurler disease MPS1H MPSIH Mucopolysaccharidosis type 1H Mucopolysaccharidosis type IH Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. Orphanet ICD-10:E76.0 ICD-11:5C56.30 OMIM:607014 UMLS:C0086795 Autosomal recessive Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.93 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.05 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.06 AND has_birth_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.76 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.26 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93473 Hurler syndrome Clinical subtype ORPHA:93473 ICD-10:E76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607014 E (Exact mapping: the two concepts are equivalent) UMLS:C0086795 E (Exact mapping: the two concepts are equivalent) MPS1S MPSIS Mucopolysaccharidosis type 1S Mucopolysaccharidosis type IS Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. Orphanet ICD-10:E76.0 ICD-11:5C56.30 OMIM:607016 UMLS:C0026708 Autosomal recessive Adolescent Adult Childhood Canada AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93474 Scheie syndrome Clinical subtype ORPHA:93474 ICD-10:E76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607016 E (Exact mapping: the two concepts are equivalent) UMLS:C0026708 E (Exact mapping: the two concepts are equivalent) MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type IH/S Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. Orphanet ICD-10:E76.0 ICD-11:5C56.30 MedDRA:10056916 OMIM:607015 UMLS:C0086431 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93476 Hurler-Scheie syndrome Clinical subtype ORPHA:93476 ICD-10:E76.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C56.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10056916 E (Exact mapping: the two concepts are equivalent) OMIM:607015 E (Exact mapping: the two concepts are equivalent) UMLS:C0086431 E (Exact mapping: the two concepts are equivalent) Achondroplasia-SCID syndrome Achondroplasia-Swiss type agammaglobulinemia syndrome Achondroplasia-severe combined immunodeficiency syndrome Immunodeficiency-short limb dwarfism syndrome Short limb skeletal dysplasia with SCID An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Orphanet ICD-10:D82.2 ICD-11:4A01.10 MeSH:C565984 OMIM:200900 UMLS:C1860168 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 19.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=935 Short-limb skeletal dysplasia with severe combined immunodeficiency ORPHA:935 ICD-10:D82.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565984 E (Exact mapping: the two concepts are equivalent) OMIM:200900 E (Exact mapping: the two concepts are equivalent) UMLS:C1860168 E (Exact mapping: the two concepts are equivalent) CAKUT Congenital anomalies of kidney and urinary tract MeSH:C566906 UMLS:C1968949 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93545 Renal or urinary tract malformation Category ORPHA:93545 MeSH:C566906 E (Exact mapping: the two concepts are equivalent) UMLS:C1968949 E (Exact mapping: the two concepts are equivalent) UMLS:C5681585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93546 Non-syndromic renal or urinary tract malformation Category ORPHA:93546 UMLS:C5681585 E (Exact mapping: the two concepts are equivalent) UMLS:C5681584 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93547 Syndromic renal or urinary tract malformation Category ORPHA:93547 UMLS:C5681584 E (Exact mapping: the two concepts are equivalent) UMLS:C0268731 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93548 Glomerular disease Category ORPHA:93548 UMLS:C0268731 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Collagen-related glomerular basement membrane disease OBSOLETE: Basement membrane disease ORPHA:93550 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Glomerular disease OBSOLETE: Secondary glomerular disease ORPHA:93551 SLE, pediatric onset A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system). Orphanet ICD-10:M32.0 ICD-10:M32.1 ICD-10:M32.8 ICD-10:M32.9 ICD-11:4A40.0Y UMLS:C1274834 Not applicable Adolescent Childhood Infancy Neonatal United States AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93552 Pediatric systemic lupus erythematosus ORPHA:93552 ICD-10:M32.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M32.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:M32.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A40.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C1274834 E (Exact mapping: the two concepts are equivalent) MC type II A clinico-serological subtype of mixed cryoglobulinemia syndrome, an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). Orphanet ICD-10:D89.1 ICD-11:4A44.90 UMLS:C5680264 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93554 Mixed cryoglobulinemia type II Etiological subtype ORPHA:93554 ICD-10:D89.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680264 E (Exact mapping: the two concepts are equivalent) MC type III A clinico-serological subtype of mixed cryoglobulinemia syndrome, is an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. Orphanet ICD-10:D89.1 ICD-11:4A44.90 UMLS:C5680263 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93555 Mixed cryoglobulinemia type III Etiological subtype ORPHA:93555 ICD-10:D89.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A44.90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680263 E (Exact mapping: the two concepts are equivalent) HCDD A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia. Orphanet ICD-10:D89.8 ICD-11:2A83.50 UMLS:C1333947 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93556 Heavy chain deposition disease Clinical subtype ORPHA:93556 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A83.50 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1333947 E (Exact mapping: the two concepts are equivalent) LHCDD A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved. Orphanet ICD-10:D89.8 ICD-11:2A83.51 UMLS:C5204117 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93557 Light and heavy chain deposition disease Clinical subtype ORPHA:93557 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A83.51 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5204117 E (Exact mapping: the two concepts are equivalent) LCDD A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by deposition of abnormal immunoglobulin light chains in the kidneys, resulting in nephrotic syndrome and renal failure. Symptomatic extrarenal deposition is uncommon, although hepatic, cardiac, and neural deposits have been reported. The condition frequently occurs in association with multiple myeloma or in patients with M protein and marrow plasma cells at monoclonal gammopathy of undetermined significance levels. Orphanet ICD-10:D89.8 ICD-11:2A83.52 UMLS:C0238239 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93558 Light chain deposition disease Clinical subtype ORPHA:93558 ICD-10:D89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A83.52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0238239 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to C3 glomerulonephritis C3 deposition glomerulonephritis without proliferation ORPHA:93559 Apolipoprotein A-I amyloidosis Familial amyloid nephropathy due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-I variant Hereditary amyloid nephropathy due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-I variant A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported. Orphanet ICD-10:E85.0 ICD-11:5D00.2Y OMIM:105200 UMLS:C5680269 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93560 AApoAI amyloidosis Clinical subtype ORPHA:93560 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680269 E (Exact mapping: the two concepts are equivalent) Familial amyloid nephropathy due to lysozyme variant Familial renal amyloidosis due to lysozyme variant Hereditary amyloid nephropathy due to lysozyme variant Hereditary renal amyloidosis due to lysozyme variant Lysozyme amyloidosis A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction. Orphanet ICD-10:E85.0 ICD-11:5D00.2Y OMIM:105200 UMLS:C5680270 Autosomal dominant Worldwide AND has_cases/families_value : 7.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93561 ALys amyloidosis Clinical subtype ORPHA:93561 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680270 E (Exact mapping: the two concepts are equivalent) Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Fibrinogen A alpha-chain amyloidosis Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition. Orphanet ICD-10:E85.0 ICD-11:5D00.2Y OMIM:105200 UMLS:C5680267 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93562 AFib amyloidosis Clinical subtype ORPHA:93562 ICD-10:E85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680267 E (Exact mapping: the two concepts are equivalent) OBSOLETE: PAN, pediatric onset This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polyarteritis nodosa OBSOLETE: Pediatric polyarteritis nodosa ORPHA:93564 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary Sjögren syndrome OBSOLETE: Pediatric Sjögren syndrome ORPHA:93566 OBSOLETE: Pediatric systemic scleroderma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Systemic sclerosis OBSOLETE: Pediatric systemic sclerosis ORPHA:93567 Juvenile PM A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy. Orphanet ICD-10:M33.2 ICD-11:4A41.10 MedDRA:10076673 UMLS:C3826988 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93568 Juvenile polymyositis ORPHA:93568 ICD-10:M33.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A41.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10076673 E (Exact mapping: the two concepts are equivalent) UMLS:C3826988 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Rhizomelic pseudopolyarthritis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-11:FA22 NON RARE IN EUROPE: Polymyalgia rheumatica ORPHA:93569 ICD-11:FA22 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Membranoproliferative glomerulonephritis type 2 A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits. Orphanet ICD-10:N03.6 ICD-11:GB40 OMIM:609814 UMLS:C0268743 Autosomal recessive Childhood Worldwide AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93571 Dense deposit disease Histopathological subtype ORPHA:93571 ICD-10:N03.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GB40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609814 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0268743 E (Exact mapping: the two concepts are equivalent) TMA MeSH:D057049 MedDRA:10043645 UMLS:C2717961 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93573 Thrombotic microangiopathy Clinical group ORPHA:93573 MeSH:D057049 E (Exact mapping: the two concepts are equivalent) MedDRA:10043645 E (Exact mapping: the two concepts are equivalent) UMLS:C2717961 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Atypical HUS with C3 anomaly OBSOLETE: D- HUS with C3 anomaly OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly OBSOLETE: aHUS with C3 anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly ORPHA:93575 OBSOLETE: Atypical HUS with MCP/CD46 anomaly OBSOLETE: D- HUS with MCP/CD46 anomaly OBSOLETE: Hemolytic uremic syndrome without diarrhea with MCP/CD46 anomaly OBSOLETE: aHUS with MCP/CD46 anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly ORPHA:93576 OBSOLETE: Atypical HUS with B factor anomaly OBSOLETE: D- HUS with B factor anomaly OBSOLETE: Hemolytic uremic syndrome without diarrhea with B factor anomaly OBSOLETE: aHUS with B factor anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly ORPHA:93578 OBSOLETE: Atypical HUS with H factor anomaly OBSOLETE: D- HUS with H factor anomaly OBSOLETE: Hemolytic uremic syndrome without diarrhea with H factor anomaly OBSOLETE: aHUS with H factor anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly ORPHA:93579 OBSOLETE: Atypical HUS with I factor anomaly OBSOLETE: D- HUS with I factor anomaly OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly OBSOLETE: Partial factor I deficiency OBSOLETE: aHUS with I factor anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly ORPHA:93580 Atypical HUS with anti-factor H antibodies aHUS with anti-factor H antibodies aHUS with neutralizing autoantibodies against factor H ICD-10:D58.8 ICD-11:3A21.Y OMIM:235400 UMLS:C5680286 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies Etiological subtype ORPHA:93581 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:235400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680286 E (Exact mapping: the two concepts are equivalent) Congenital ADAMTS-13 deficiency Congenital TTP Familial TTP Upshaw-Schulman syndrome A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. Orphanet ICD-10:M31.1 ICD-11:3B64.14 OMIM:274150 UMLS:C1268935 Autosomal recessive Adult Childhood Infancy Neonatal Worldwide AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 123.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93583 Congenital thrombotic thrombocytopenic purpura Clinical subtype ORPHA:93583 ICD-10:M31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:274150 E (Exact mapping: the two concepts are equivalent) UMLS:C1268935 E (Exact mapping: the two concepts are equivalent) Acquired TTP Acquired thrombotic thrombocytopenic purpura Autoimmune thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies aTTP iTTP A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. Orphanet ICD-10:M31.1 ICD-11:3B64.14 MeSH:C536901 UMLS:C2584778 Multigenic/multifactorial All ages Europe AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93585 Immune-mediated thrombotic thrombocytopenic purpura Clinical subtype ORPHA:93585 ICD-10:M31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B64.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536901 E (Exact mapping: the two concepts are equivalent) UMLS:C2584778 E (Exact mapping: the two concepts are equivalent) Hereditary cystic renal disease UMLS:C5680285 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93587 Genetic cystic renal disease Category ORPHA:93587 UMLS:C5680285 E (Exact mapping: the two concepts are equivalent) ICD-10:Q61.5 ICD-11:GB83 OMIM:604387 OMIM:613159 OMIM:617271 UMLS:C5681620 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93589 Late-onset nephronophthisis Clinical subtype ORPHA:93589 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:604387 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613159 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617271 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681620 E (Exact mapping: the two concepts are equivalent) Autosomal recessive infantile NPHP Autosomal recessive infantile nephronophthisis A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age. Orphanet ICD-10:Q61.5 ICD-11:GB83 OMIM:602088 OMIM:615382 Autosomal recessive Antenatal Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93591 Infantile nephronophthisis Clinical subtype ORPHA:93591 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602088 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615382 BTNT (ORPHAcode is broader than the targeted code used to represent it) ICD-10:Q61.5 ICD-11:GB83 MeSH:C537699 OMIM:256100 OMIM:615382 UMLS:C1855681 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93592 Juvenile nephronophthisis Clinical subtype ORPHA:93592 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537699 E (Exact mapping: the two concepts are equivalent) OMIM:256100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615382 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1855681 E (Exact mapping: the two concepts are equivalent) UMLS:C5681622 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93593 Nephropathy secondary to a storage or other metabolic disease Category ORPHA:93593 UMLS:C5681622 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Biological anomaly without phenotypic characterization OBSOLETE: Alpha-1-antichymotrypsin deficiency ORPHA:93594 Glycolic aciduria Peroxisomal alanine-glyoxylate aminotransferase deficiency ICD-10:E74.8 ICD-11:5C51.20 MeSH:C536414 OMIM:259900 UMLS:C0268164 Autosomal recessive All ages France AND has_annual_incidence_average_value : 0.83 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.015 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93598 Primary hyperoxaluria type 1 Clinical subtype ORPHA:93598 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536414 E (Exact mapping: the two concepts are equivalent) OMIM:259900 E (Exact mapping: the two concepts are equivalent) UMLS:C0268164 E (Exact mapping: the two concepts are equivalent) D-glycerate dehydrogenase deficiency L-glyceric aciduria ICD-10:E74.8 ICD-11:5C51.2Y MeSH:C536415 OMIM:260000 UMLS:C0268165 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 10.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93599 Primary hyperoxaluria type 2 Clinical subtype ORPHA:93599 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536415 E (Exact mapping: the two concepts are equivalent) OMIM:260000 E (Exact mapping: the two concepts are equivalent) UMLS:C0268165 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Isolated complex I deficiency OMIM:600335 UMLS:C1838243 Succinic acidemia ORPHA:936 OMIM:600335 E (Exact mapping: the two concepts are equivalent) UMLS:C1838243 E (Exact mapping: the two concepts are equivalent) ICD-10:E74.8 ICD-11:5C51.2Y OMIM:613616 UMLS:C3150878 Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93600 Primary hyperoxaluria type 3 Clinical subtype ORPHA:93600 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613616 E (Exact mapping: the two concepts are equivalent) UMLS:C3150878 E (Exact mapping: the two concepts are equivalent) XDH deficiency XO deficiency XOR deficiency Xanthine dehydrogenase deficiency Xanthine oxidase deficiency Xanthine oxidoreductase deficiency Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. Orphanet ICD-10:E79.8 ICD-11:5C55.00 MeSH:C562584 OMIM:278300 UMLS:C0268118 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93601 Xanthinuria type I Etiological subtype ORPHA:93601 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562584 E (Exact mapping: the two concepts are equivalent) OMIM:278300 E (Exact mapping: the two concepts are equivalent) UMLS:C0268118 E (Exact mapping: the two concepts are equivalent) XDH and AOX dual deficiency Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. Orphanet ICD-10:E79.8 ICD-11:5C55.00 MeSH:C566358 OMIM:603592 UMLS:C1863688 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93602 Xanthinuria type II Etiological subtype ORPHA:93602 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566358 E (Exact mapping: the two concepts are equivalent) OMIM:603592 E (Exact mapping: the two concepts are equivalent) UMLS:C1863688 E (Exact mapping: the two concepts are equivalent) UMLS:C5681624 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93603 Rare renal tubular disease Category ORPHA:93603 UMLS:C5681624 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Bartter syndrome, furosemide type OBSOLETE: Bartter syndrome, furosemide-amiloride type OBSOLETE: Hyperprostaglandin E syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Bartter syndrome OBSOLETE: Antenatal Bartter syndrome ORPHA:93604 Bartter syndrome type III A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure. Orphanet ICD-10:E26.8 ICD-11:GB90.43 MeSH:C537653 OMIM:607364 UMLS:C1846343 Autosomal recessive Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93605 Bartter syndrome type 3 Clinical subtype ORPHA:93605 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.43 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537653 E (Exact mapping: the two concepts are equivalent) OMIM:607364 E (Exact mapping: the two concepts are equivalent) UMLS:C1846343 E (Exact mapping: the two concepts are equivalent) NSIAD Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Orphanet ICD-10:E22.2 ICD-11:5A60.20 MeSH:C564491 OMIM:300539 UMLS:C1845202 X-linked recessive Childhood Worldwide AND has_cases/families_value : 21.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93606 Nephrogenic syndrome of inappropriate antidiuresis ORPHA:93606 ICD-10:E22.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A60.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C564491 E (Exact mapping: the two concepts are equivalent) OMIM:300539 E (Exact mapping: the two concepts are equivalent) UMLS:C1845202 E (Exact mapping: the two concepts are equivalent) AR pRTA Proximal renal tubular acidosis with ocular abnormalities and intellectual disability A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present. Orphanet ICD-10:N25.8 ICD-11:GB90.44 MeSH:C567038 OMIM:604278 UMLS:C1970309 Autosomal recessive Childhood Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93607 Autosomal recessive proximal renal tubular acidosis Clinical subtype ORPHA:93607 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567038 E (Exact mapping: the two concepts are equivalent) OMIM:604278 E (Exact mapping: the two concepts are equivalent) UMLS:C1970309 E (Exact mapping: the two concepts are equivalent) AD dRTA A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described. Orphanet ICD-10:N25.8 ICD-11:GB90.44 OMIM:179800 Autosomal dominant Adolescent Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93608 Autosomal dominant distal renal tubular acidosis Clinical subtype ORPHA:93608 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:179800 E (Exact mapping: the two concepts are equivalent) AR dRTA without deafness AR dRTA without hearing loss Autosomal recessive distal renal tubular acidosis without hearing loss Distal renal tubular acidosis type 1c dRTA type 1c This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis without deafness ORPHA:93609 dRTA with anemia A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia. Orphanet ICD-10:N25.8 ICD-11:GB90.44 OMIM:611590 UMLS:C5680287 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93610 Distal renal tubular acidosis with anemia Clinical subtype ORPHA:93610 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.44 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:611590 E (Exact mapping: the two concepts are equivalent) UMLS:C5680287 E (Exact mapping: the two concepts are equivalent) AR dRTA with deafness AR dRTA with hearing loss Autosomal recessive distal RTA with deafness Autosomal recessive distal renal tubular acidosis with hearing loss Distal renal tubular acidosis type 1b dRTA type 1b This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive distal renal tubular acidosis UMLS:C0403554 Autosomal recessive distal renal tubular acidosis with deafness ORPHA:93611 UMLS:C0403554 E (Exact mapping: the two concepts are equivalent) ICD-10:E72.0 ICD-11:5C60.2 MeSH:C565652 OMIM:220100 UMLS:C1857388 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93612 Cystinuria type A Etiological subtype ORPHA:93612 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565652 E (Exact mapping: the two concepts are equivalent) OMIM:220100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1857388 E (Exact mapping: the two concepts are equivalent) ICD-10:E72.0 ICD-11:5C60.2 OMIM:220100 UMLS:C1857389 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93613 Cystinuria type B Etiological subtype ORPHA:93613 ICD-10:E72.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:220100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1857389 E (Exact mapping: the two concepts are equivalent) UMLS:C5681623 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93614 Hematological disorder with renal involvement Category ORPHA:93614 UMLS:C5681623 E (Exact mapping: the two concepts are equivalent) Alpha-thalassemia intermedia HbH disease An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia. Orphanet ICD-10:D56.0 ICD-11:3A50.02 MedDRA:10063435 OMIM:613978 UMLS:C3161174 Autosomal recessive All ages South East Asia AND has_annual_incidence_average_value : 1200.0 AND has_annual_incidence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 8.7 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93616 Hemoglobin H disease Clinical subtype ORPHA:93616 ICD-10:D56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10063435 E (Exact mapping: the two concepts are equivalent) OMIM:613978 E (Exact mapping: the two concepts are equivalent) UMLS:C3161174 E (Exact mapping: the two concepts are equivalent) UMLS:C5681618 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93618 Rare cause of hypertension Category ORPHA:93618 UMLS:C5681618 E (Exact mapping: the two concepts are equivalent) UMLS:C5681619 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93619 Rare renal tumor Category ORPHA:93619 UMLS:C5681619 E (Exact mapping: the two concepts are equivalent) A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent. Orphanet ICD-10:N25.8 ICD-11:GB90.42 MeSH:C538212 OMIM:300009 OMIM:300554 OMIM:308990 OMIM:310468 UMLS:C1848336 X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93622 Dent disease type 1 Clinical subtype ORPHA:93622 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538212 E (Exact mapping: the two concepts are equivalent) OMIM:300009 E (Exact mapping: the two concepts are equivalent) OMIM:300554 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:310468 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1848336 E (Exact mapping: the two concepts are equivalent) A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized. Orphanet ICD-10:N25.8 ICD-11:GB90.42 MeSH:C564487 OMIM:300555 UMLS:C1845167 X-linked recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93623 Dent disease type 2 Clinical subtype ORPHA:93623 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.42 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564487 E (Exact mapping: the two concepts are equivalent) OMIM:300555 E (Exact mapping: the two concepts are equivalent) UMLS:C1845167 E (Exact mapping: the two concepts are equivalent) UMLS:C5681617 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93626 Rare renal disease Category Head of classification ORPHA:93626 UMLS:C5681617 E (Exact mapping: the two concepts are equivalent) MedDRA:10072220 UMLS:C3890737 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93665 Autoinflammatory syndrome Category ORPHA:93665 MedDRA:10072220 E (Exact mapping: the two concepts are equivalent) UMLS:C3890737 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Adult CRMO This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis OBSOLETE: Adult chronic recurrent multifocal osteomyelitis ORPHA:93668 Juvenile DM An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue. Orphanet ICD-10:M33.0 ICD-11:4A41.01 MedDRA:10008521 UMLS:C0263666 Not applicable Adolescent Childhood Infancy Europe AND has_point_prevalence_range : Unknown Worldwide AND has_annual_incidence_average_value : 0.295 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93672 Juvenile dermatomyositis ORPHA:93672 ICD-10:M33.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A41.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10008521 E (Exact mapping: the two concepts are equivalent) UMLS:C0263666 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Castleman disease OBSOLETE: Pediatric Castleman disease ORPHA:93682 Localized Castleman disease A rare lymphoid hemopathy characterized by involvement of a single lymph node or a group of lymph nodes in one lymph node station (most commonly in the mediastinum, neck, abdomen, or retroperitoneum). Histopathologically, it may occur as a hyaline vascular subtype with hyaline-vascular follicles and a fibrotic and hypervascular stroma with sinus compression, or a mixed/plasmacytic subtype with dense, interfollicular sheets of (usually polytypic) plasma cells extending to the cortex, and variably sized lymphoid follicles including some with regressive changes. Clinically, most patients are asymptomatic, and lesions are detected incidentally. Orphanet ICD-10:D47.7 ICD-11:4B2Y All ages United States AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93685 Unicentric Castleman disease Clinical subtype ORPHA:93685 ICD-10:D47.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OBSOLETE: MCD OBSOLETE: Multicentric giant lymph node hyperplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Castleman disease OBSOLETE: Multicentric Castleman disease ORPHA:93686 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Reactive arthritis OBSOLETE: Non-idiopathic juvenile arthritis ORPHA:93688 Malformation syndrome UMLS:C5680284 France AND has_birth_prevalence_average_value : 2.42 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93890 Rare developmental defect during embryogenesis Category Head of classification ORPHA:93890 UMLS:C5680284 E (Exact mapping: the two concepts are equivalent) A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MeSH:C535312 OMIM:236795 UMLS:C0342737 Antenatal Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=939 3-hydroxyisobutyric aciduria ORPHA:939 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535312 E (Exact mapping: the two concepts are equivalent) OMIM:236795 E (Exact mapping: the two concepts are equivalent) UMLS:C0342737 E (Exact mapping: the two concepts are equivalent) Full NF3 Full SWN Full neurofibromatosis type 3 Neurilemmomatosis Nonmosaic schwannomatosis A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. Orphanet ICD-10:Q85.0 ICD-11:LD2D.1Y MeSH:C536641 OMIM:162091 OMIM:162260 OMIM:615670 UMLS:C1335929 Autosomal dominant Adult Elderly Finland AND has_annual_incidence_average_value : 0.058 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93921 Full schwannomatosis ORPHA:93921 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536641 E (Exact mapping: the two concepts are equivalent) OMIM:162091 E (Exact mapping: the two concepts are equivalent) OMIM:162260 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615670 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1335929 E (Exact mapping: the two concepts are equivalent) A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features. Orphanet ICD-10:Q04.2 ICD-11:LA05.2 OMIM:157170 OMIM:609637 OMIM:610829 UMLS:C0431362 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93924 Lobar holoprosencephaly Clinical subtype ORPHA:93924 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:157170 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610829 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0431362 E (Exact mapping: the two concepts are equivalent) A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly. Orphanet ICD-10:Q04.2 ICD-11:LA05.2 OMIM:157170 OMIM:301043 OMIM:609637 OMIM:610829 UMLS:C0431363 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93925 Alobar holoprosencephaly Clinical subtype ORPHA:93925 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:157170 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:301043 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610829 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0431363 E (Exact mapping: the two concepts are equivalent) MIH MIH type HPE MIHF MIHV Middle interhemispheric fusion variant Middle interhemispheric variant of holoprosencephaly Syntelencephaly Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter. Orphanet ICD-10:Q04.2 ICD-11:LA05.2 OMIM:157170 OMIM:609637 OMIM:610829 UMLS:C5396362 Multigenic/multifactorial Not applicable Infancy Neonatal Romania AND has_birth_prevalence_average_value : 2.778 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93926 Midline interhemispheric variant of holoprosencephaly Clinical subtype ORPHA:93926 ICD-10:Q04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:157170 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:609637 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:610829 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5396362 E (Exact mapping: the two concepts are equivalent) A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. Orphanet ICD-10:Q64.0 ICD-11:LB55 MeSH:D004842 MedDRA:10015088 UMLS:C5681612 Multigenic/multifactorial Antenatal Infancy Neonatal Europe AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93928 Isolated epispadias Clinical subtype ORPHA:93928 ICD-10:Q64.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB55 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004842 E (Exact mapping: the two concepts are equivalent) MedDRA:10015088 E (Exact mapping: the two concepts are equivalent) UMLS:C5681612 E (Exact mapping: the two concepts are equivalent) OEIS complex Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. Orphanet ICD-10:Q64.1 ICD-11:LB17.3 MeSH:C537748 MedDRA:10067424 OMIM:258040 UMLS:C1850321 Multigenic/multifactorial Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.54 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93929 Cloacal exstrophy Clinical subtype ORPHA:93929 ICD-10:Q64.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB17.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C537748 E (Exact mapping: the two concepts are equivalent) MedDRA:10067424 E (Exact mapping: the two concepts are equivalent) OMIM:258040 E (Exact mapping: the two concepts are equivalent) UMLS:C1850321 E (Exact mapping: the two concepts are equivalent) Classic exstrophy of the bladder A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. Orphanet ICD-10:Q64.1 ICD-11:LB31.3 MeSH:D001746 OMIM:600057 UMLS:C0005689 Multigenic/multifactorial Infancy Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 3.05 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93930 Bladder exstrophy Clinical subtype ORPHA:93930 ICD-10:Q64.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB31.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D001746 E (Exact mapping: the two concepts are equivalent) OMIM:600057 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0005689 E (Exact mapping: the two concepts are equivalent) Opitz-Kaveggia syndrome A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C537923 OMIM:305450 UMLS:C5399762 X-linked recessive Antenatal Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93932 FG syndrome type 1 ORPHA:93932 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537923 E (Exact mapping: the two concepts are equivalent) OMIM:305450 E (Exact mapping: the two concepts are equivalent) UMLS:C5399762 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Congenital limb amputation This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Terminal transverse defects of arm ORPHA:93937 LTEC I LTEC1 Laryngo-tracheo-esophageal cleft type 1 A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. Orphanet ICD-10:Q32.1 ICD-11:LA72 UMLS:C0584823 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93938 Laryngotracheoesophageal cleft type 1 Clinical subtype ORPHA:93938 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA72 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0584823 E (Exact mapping: the two concepts are equivalent) LTEC II LTEC2 Laryngo-tracheo-esophageal cleft type 2 A congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. Orphanet ICD-10:Q32.1 ICD-11:LA72 UMLS:C0584824 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93939 Laryngotracheoesophageal cleft type 2 Clinical subtype ORPHA:93939 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA72 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0584824 E (Exact mapping: the two concepts are equivalent) LTEC III LTEC3 Laryngo-tracheo-esophageal cleft type 3 A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. Orphanet ICD-10:Q32.1 ICD-11:LA72 OMIM:215800 UMLS:C0584825 Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93940 Laryngotracheoesophageal cleft type 3 Clinical subtype ORPHA:93940 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA72 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:215800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0584825 E (Exact mapping: the two concepts are equivalent) LTEC IV LTEC4 Laryngo-tracheo-esophageal cleft type 4 A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. Orphanet ICD-10:Q32.1 ICD-11:LA72 UMLS:C0584827 Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93941 Laryngotracheoesophageal cleft type 4 Clinical subtype ORPHA:93941 ICD-10:Q32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA72 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0584827 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic diaphragmatic or abdominal wall malformation OBSOLETE: Superior celosomia ORPHA:93942 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum Corpus callosum dysgenesis-hypopituitarism syndrome ORPHA:93943 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Fichera type ORPHA:93944 ICD-10:Q87.8 ICD-11:LD90.Y OMIM:309500 UMLS:C5681616 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93945 X-linked intellectual disability, Porteous type Clinical subtype ORPHA:93945 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681616 E (Exact mapping: the two concepts are equivalent) An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. Orphanet ICD-10:Q87.8 ICD-11:LD90.Y OMIM:309500 UMLS:C5681615 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93946 Hamel cerebro-palato-cardiac syndrome Clinical subtype ORPHA:93946 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681615 E (Exact mapping: the two concepts are equivalent) An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. Orphanet ICD-10:Q87.8 ICD-11:LD90.Y OMIM:309500 UMLS:C5681614 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93947 X-linked intellectual disability, Golabi-Ito-Hall type Clinical subtype ORPHA:93947 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681614 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.5 ICD-11:LD90.Y OMIM:309500 UMLS:C5681613 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93950 X-linked intellectual disability, Sutherland-Haan type Clinical subtype ORPHA:93950 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:309500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681613 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked intellectual disability-epilepsy syndrome OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome ORPHA:93951 MRXSH X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. Orphanet ICD-10:G25.8 ICD-11:LD90 MeSH:C564516 OMIM:300423 UMLS:C1845543 X-linked recessive Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93952 X-linked intellectual disability, Hedera type ORPHA:93952 ICD-10:G25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564516 E (Exact mapping: the two concepts are equivalent) OMIM:300423 E (Exact mapping: the two concepts are equivalent) UMLS:C1845543 E (Exact mapping: the two concepts are equivalent) A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. Orphanet ICD-10:Q89.2 ICD-11:DA05.Y MeSH:C536909 OMIM:188455 UMLS:C3495590 Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93953 Familial thyroglossal duct cyst ORPHA:93953 ICD-10:Q89.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA05.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536909 E (Exact mapping: the two concepts are equivalent) OMIM:188455 E (Exact mapping: the two concepts are equivalent) UMLS:C3495590 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Primary blepharospasm This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Benign essential blepharospasm ORPHA:93955 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Truncal dystonia ORPHA:93956 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Limb dystonia ORPHA:93957 A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles. Orphanet ICD-10:G24.4 ICD-11:8A02.0Y MedDRA:10067954 UMLS:C2242577 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93958 Oromandibular dystonia ORPHA:93958 ICD-10:G24.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10067954 E (Exact mapping: the two concepts are equivalent) UMLS:C2242577 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Laryngeal dystonia OBSOLETE: Spasmodic dysphonia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Laryngeal dyskinesia ORPHA:93961 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Cervical dystonia ORPHA:93962 OBSOLETE: Adult-onset focal torsion dystonia OBSOLETE: Adult-onset idiopathic torsion dystonia OBSOLETE: DYT7 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Autosomal dominant focal dystonia, DYT7 type ORPHA:93963 Meige dystonia Meige syndrome A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia. Orphanet ICD-10:G24.8 ICD-11:8A02.0Y MeSH:D008538 MedDRA:10027138 UMLS:C0025183 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93964 Blepharospasm-oromandibular dystonia syndrome ORPHA:93964 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D008538 E (Exact mapping: the two concepts are equivalent) MedDRA:10027138 E (Exact mapping: the two concepts are equivalent) UMLS:C0025183 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Isolated spina bifida MeSH:D008588 MedDRA:10027266 Meningocele ORPHA:93968 MeSH:D008588 E (Exact mapping: the two concepts are equivalent) MedDRA:10027266 E (Exact mapping: the two concepts are equivalent) MMC Myelomeningocele A rare form of spina bifida cystica (saccular, open neural tube defect (NTD)) characterized by a non-neurulated spinal cord (neural placode) on the surface of the cystic extension of dysplastic meninges (non-epidermised posterior meningocele). The spinal cord extends through a spina bifida (posterior vertebral defect) with typically everted or parallel laminae. Nerve roots are connected to the borders of the neural placode and are visible inside the sac. Myelomeningocele is characteristically associated with a Chiari II malformation. It can be either isolated or associated with split cord malformation. Orphanet ICD-10:Q05.0 ICD-10:Q05.1 ICD-10:Q05.2 ICD-10:Q05.3 ICD-10:Q05.4 ICD-10:Q05.5 ICD-10:Q05.6 ICD-10:Q05.7 ICD-10:Q05.8 ICD-10:Q05.9 ICD-11:LA02.1 UMLS:C0025312 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93969 Open spinal dysraphism with a myelomeningocele ORPHA:93969 ICD-10:Q05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q05.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA02.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0025312 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome Holmes-Gang syndrome ORPHA:93970 Chudley-Lowry syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome Chudley-Lowry-Hoar syndrome ORPHA:93971 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-specific syndromic intellectual disability UMLS:C0796003 Juberg-Marsidi syndrome ORPHA:93972 UMLS:C0796003 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome Carpenter-Waziri syndrome ORPHA:93973 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome UMLS:C0796159 Smith-Fineman-Myers syndrome ORPHA:93974 UMLS:C0796159 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-specific syndromic intellectual disability OBSOLETE: Renier-Gabreels-Jasper syndrome ORPHA:93975 A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development. Orphanet ICD-10:Q16.0 ICD-10:Q16.1 ICD-11:LA22.1 MedDRA:10002654 OMIM:600674 UMLS:C0702139 Infancy Neonatal Chile AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Chile AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.028 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Finland AND has_point_prevalence_range : <1 / 1 000 000 France AND has_birth_prevalence_average_value : 0.04 AND has_birth_prevalence_range : <1 / 1 000 000 France AND has_point_prevalence_range : <1 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.03 AND has_birth_prevalence_range : <1 / 1 000 000 Italy AND has_point_prevalence_range : <1 / 1 000 000 Specific population AND has_point_prevalence_average_value : 0.03 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.02 AND has_birth_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93976 Anotia ORPHA:93976 ICD-10:Q16.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q16.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA22.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10002654 E (Exact mapping: the two concepts are equivalent) OMIM:600674 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0702139 E (Exact mapping: the two concepts are equivalent) Astrocytic tumor A complex group of benign and malignant cerebral tumors arising at any age. Orphanet MeSH:D001254 MedDRA:10003571 OMIM:137800 UMLS:C0004114 All ages Austria AND has_annual_incidence_average_value : 4.909 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 5.777 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 3.768 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 4.184 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 4.251 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 4.443 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 4.8 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 5.263 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 5.829 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 5.538 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 5.147 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 4.786 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 3.632 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 4.801 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 3.392 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 4.544 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 5.78 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 3.543 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 3.931 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 3.707 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 4.523 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 5.087 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 5.574 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 5.591 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94 Astrocytoma Clinical group ORPHA:94 MeSH:D001254 E (Exact mapping: the two concepts are equivalent) MedDRA:10003571 E (Exact mapping: the two concepts are equivalent) OMIM:137800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0004114 E (Exact mapping: the two concepts are equivalent) Isolated congenital humeroulnar fusion A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally. Orphanet ICD-10:Q74.0 ICD-11:LB90.2 UMLS:C0431799 Not applicable No data available Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94056 Isolated humero-ulnar synostosis ORPHA:94056 ICD-10:Q74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB90.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0431799 E (Exact mapping: the two concepts are equivalent) Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision. Orphanet ICD-10:H40.5 ICD-11:9C61.32 MeSH:D015355 MedDRA:10062891 UMLS:C0017609 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 24.4 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94058 Neovascular glaucoma ORPHA:94058 ICD-10:H40.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C61.32 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015355 E (Exact mapping: the two concepts are equivalent) MedDRA:10062891 E (Exact mapping: the two concepts are equivalent) UMLS:C0017609 E (Exact mapping: the two concepts are equivalent) ICD-10:L29.8 ICD-11:EC90.10 MedDRA:10060875 UMLS:C1262019 Not applicable Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_average_value : 35.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94059 Uremic pruritus ORPHA:94059 ICD-10:L29.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC90.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10060875 E (Exact mapping: the two concepts are equivalent) UMLS:C1262019 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary immunodeficiency OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome ORPHA:94061 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome ORPHA:94062 Del(12)(q14) Deletion 12q14 Monosomy 12q14 Osteopoikilosis-short stature-intellectual disability syndrome 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the <i>LEMD3</i> gene: mutations in this gene have already been implicated in osteopoikilosis. Orphanet ICD-10:Q93.5 ICD-11:LD2F.1Y OMIM:166700 UMLS:C4305140 Unknown Childhood Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94063 12q14 microdeletion syndrome ORPHA:94063 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:166700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4305140 E (Exact mapping: the two concepts are equivalent) DIS Hearing loss-infertility syndrome Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. Orphanet ICD-10:Q93.5 ICD-11:LD2H.Y MeSH:C567010 OMIM:611102 UMLS:C1970187 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94064 Deafness-infertility syndrome ORPHA:94064 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567010 E (Exact mapping: the two concepts are equivalent) OMIM:611102 E (Exact mapping: the two concepts are equivalent) UMLS:C1970187 E (Exact mapping: the two concepts are equivalent) Del(15)(q24) Monosomy 15q24 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. Orphanet ICD-10:Q93.5 ICD-11:LD44.F MeSH:C579849 OMIM:613406 UMLS:C3697269 Not applicable Unknown Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94065 15q24 microdeletion syndrome Etiological subtype ORPHA:94065 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.F - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C579849 E (Exact mapping: the two concepts are equivalent) OMIM:613406 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3697269 E (Exact mapping: the two concepts are equivalent) Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14. Orphanet ICD-10:Q87.8 UMLS:C4510007 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia ORPHA:94066 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4510007 E (Exact mapping: the two concepts are equivalent) Congenital spondyloepiphyseal dysplasia SEDC Spranger-Wiedemann disease Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MeSH:C535788 MedDRA:10062920 OMIM:183900 UMLS:C2745959 Autosomal dominant Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94068 Spondyloepiphyseal dysplasia congenita ORPHA:94068 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535788 E (Exact mapping: the two concepts are equivalent) MedDRA:10062920 E (Exact mapping: the two concepts are equivalent) OMIM:183900 E (Exact mapping: the two concepts are equivalent) UMLS:C2745959 E (Exact mapping: the two concepts are equivalent) Autoimmune enteropathy Immune-mediated protracted diarrhea of infancy Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. Orphanet MedDRA:10081456 UMLS:C0341305 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94075 Severe immune-mediated enteropathy Category ORPHA:94075 MedDRA:10081456 E (Exact mapping: the two concepts are equivalent) UMLS:C0341305 E (Exact mapping: the two concepts are equivalent) Non-secreting paraganglioma A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed. Orphanet ICD-10:D44.7 UMLS:C4707263 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94080 Non-functioning paraganglioma ORPHA:94080 ICD-10:D44.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707263 E (Exact mapping: the two concepts are equivalent) Partington-Mulley syndrome X-linked intellectual disability-dystonia-dysarthria syndrome Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (<i>ARX</i>) gene (Xp22.13). Transmission is X-linked recessive. Orphanet ICD-10:G93.4 ICD-11:LD90.Y MeSH:C536300 OMIM:309510 UMLS:C0796250 X-linked recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94083 Partington syndrome ORPHA:94083 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536300 E (Exact mapping: the two concepts are equivalent) OMIM:309510 E (Exact mapping: the two concepts are equivalent) UMLS:C0796250 E (Exact mapping: the two concepts are equivalent) Fryns-Aftimos syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Baraitser-Winter cerebrofrontofacial syndrome UMLS:C1853623 Cerebro-oculo-facial-lymphatic syndrome ORPHA:94084 UMLS:C1853623 E (Exact mapping: the two concepts are equivalent) Drummond syndrome Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant. Orphanet ICD-10:E70.8 ICD-11:5C60.Y MeSH:C536239 OMIM:211000 UMLS:C0268478 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94086 Blue diaper syndrome ORPHA:94086 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536239 E (Exact mapping: the two concepts are equivalent) OMIM:211000 E (Exact mapping: the two concepts are equivalent) UMLS:C0268478 E (Exact mapping: the two concepts are equivalent) CHP Winkelmann cytophagic panniculitis Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue. Orphanet ICD-10:M35.8 ICD-11:EE8Y MedDRA:10081137 UMLS:C0406594 Unknown Adult Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94087 Cytophagic histiocytic panniculitis ORPHA:94087 ICD-10:M35.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EE8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081137 E (Exact mapping: the two concepts are equivalent) UMLS:C0406594 E (Exact mapping: the two concepts are equivalent) Familial renal hypouricemia A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF). Orphanet ICD-10:N25.8 ICD-11:GB90.4Y OMIM:220150 OMIM:242050 OMIM:307830 OMIM:612076 UMLS:C5681580 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94088 Hereditary renal hypouricemia ORPHA:94088 ICD-10:N25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:GB90.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:220150 E (Exact mapping: the two concepts are equivalent) OMIM:242050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:307830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612076 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681580 E (Exact mapping: the two concepts are equivalent) Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Orphanet ICD-10:E20.1 ICD-11:5A50.1 MeSH:C548075 OMIM:603233 UMLS:C2932715 Autosomal dominant Not applicable Adolescent Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94089 Pseudohypoparathyroidism type 1B ORPHA:94089 ICD-10:E20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548075 E (Exact mapping: the two concepts are equivalent) OMIM:603233 E (Exact mapping: the two concepts are equivalent) UMLS:C2932715 E (Exact mapping: the two concepts are equivalent) Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response. Orphanet ICD-10:E20.1 ICD-11:5A50.1 MeSH:C548077 OMIM:203330 UMLS:C2932717 Not applicable All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94090 Pseudohypoparathyroidism type 2 ORPHA:94090 ICD-10:E20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548077 E (Exact mapping: the two concepts are equivalent) OMIM:203330 E (Exact mapping: the two concepts are equivalent) UMLS:C2932717 E (Exact mapping: the two concepts are equivalent) A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemiplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease. Orphanet ICD-10:G12.2 ICD-11:8B60.Y UMLS:C5191669 Adolescent Adult Childhood Elderly United Kingdom AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94091 Mills syndrome ORPHA:94091 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B60.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191669 E (Exact mapping: the two concepts are equivalent) A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. Orphanet ICD-10:G21.0 ICD-11:8A0Y MeSH:D009459 MedDRA:10029282 UMLS:C0027849 Unknown All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94093 Neuroleptic malignant syndrome ORPHA:94093 ICD-10:G21.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D009459 E (Exact mapping: the two concepts are equivalent) MedDRA:10029282 E (Exact mapping: the two concepts are equivalent) UMLS:C0027849 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Casamassima-Morton-Nance syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with predominant vertebral and costal involvement OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome ORPHA:94095 D-glycerate kinase deficiency D-glyceric acidemia A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development. Orphanet ICD-10:E74.8 ICD-11:5C50.7Y MeSH:C535767 OMIM:220120 UMLS:C0342765 Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=941 D-glyceric aciduria ORPHA:941 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535767 E (Exact mapping: the two concepts are equivalent) OMIM:220120 E (Exact mapping: the two concepts are equivalent) UMLS:C0342765 E (Exact mapping: the two concepts are equivalent) Cayman ataxia A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated. Orphanet ICD-10:G11.0 OMIM:601238 UMLS:C1832585 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94122 Cerebellar ataxia, Cayman type ORPHA:94122 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:601238 E (Exact mapping: the two concepts are equivalent) UMLS:C1832585 E (Exact mapping: the two concepts are equivalent) SCAN1 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. Orphanet ICD-10:G60.2 OMIM:607250 UMLS:C4759870 Autosomal recessive Adolescent Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94124 Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124 ICD-10:G60.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607250 E (Exact mapping: the two concepts are equivalent) UMLS:C4759870 E (Exact mapping: the two concepts are equivalent) MIRAS A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders. Orphanet ICD-10:G11.8 ICD-11:5C53.21 UMLS:C4760799 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94125 Recessive mitochondrial ataxia syndrome ORPHA:94125 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4760799 E (Exact mapping: the two concepts are equivalent) ADCA1 ADCAI Autosomal dominant cerebellar ataxia type 1 Cerebellar plus syndrome A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. Orphanet UMLS:C5680259 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94145 Autosomal dominant cerebellar ataxia type I Clinical group ORPHA:94145 UMLS:C5680259 E (Exact mapping: the two concepts are equivalent) Ataxia with pigmentary retinopathy Cerebellar syndrome-pigmentary maculopathy syndrome SCA7 An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:164500 UMLS:C0752125 Autosomal dominant Adolescent Adult Childhood Elderly Infancy Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94147 Spinocerebellar ataxia type 7 ORPHA:94147 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:164500 E (Exact mapping: the two concepts are equivalent) UMLS:C0752125 E (Exact mapping: the two concepts are equivalent) ADCA3 ADCAIII Autosomal dominant cerebellar ataxia type 3 Pure cerebellar syndrome-mild pyramidal signs syndrome A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. Orphanet UMLS:C5680260 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94148 Autosomal dominant cerebellar ataxia type III Clinical group ORPHA:94148 UMLS:C5680260 E (Exact mapping: the two concepts are equivalent) ADCA4 ADCAIV Autosomal dominant cerebellar ataxia type 4 UMLS:C5680261 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94149 Autosomal dominant cerebellar ataxia type IV Clinical group ORPHA:94149 UMLS:C5680261 E (Exact mapping: the two concepts are equivalent) ICD-10:Q84.3 ICD-11:EC22.0 OMIM:206800 UMLS:C3277900 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=94150 Anonychia congenita totalis Clinical subtype ORPHA:94150 ICD-10:Q84.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:206800 E (Exact mapping: the two concepts are equivalent) UMLS:C3277900 E (Exact mapping: the two concepts are equivalent) Deficiency of malonyl-CoA decarboxylase MLYCD deficiency Malonic acidemia Malonyl-CoA decarboxylase deficiency Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). Orphanet ICD-10:E72.8 ICD-11:5C50.E1 MeSH:C535702 OMIM:248360 UMLS:C0342793 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 34.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=943 Malonic aciduria ORPHA:943 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535702 E (Exact mapping: the two concepts are equivalent) OMIM:248360 E (Exact mapping: the two concepts are equivalent) UMLS:C0342793 E (Exact mapping: the two concepts are equivalent) Primary acalvaria A rare congenital malformation characterized by the absence of calvarial bones, dura mater and associated muscles while skull base, facial bones and brain structures are normal. Central nervous system is usually unaffected, however some neuropathological abnormalities such as holoprosencephaly, hydrocephalus, micropolygyria and gyration anomalies can be present. Prenatal diagnosis by ultrasonography is usually confirmed by magnetic resonance imaging as it can be confused with anencephaly or encephalocele. Orphanet ICD-10:Q00.0 ICD-11:LA00.0Y MeSH:C535570 UMLS:C2930936 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=945 Acalvaria ORPHA:945 ICD-10:Q00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535570 E (Exact mapping: the two concepts are equivalent) UMLS:C2930936 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Acrocephalosyndactylia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic craniosynostosis OBSOLETE: Acrocephalosyndactyly ORPHA:946 Kaplan-Plauchu-Fitch syndrome A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:Q87.0 MeSH:C536892 OMIM:201050 UMLS:C1860145 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=949 Acrocraniofacial dysostosis ORPHA:949 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536892 E (Exact mapping: the two concepts are equivalent) OMIM:201050 E (Exact mapping: the two concepts are equivalent) UMLS:C1860145 E (Exact mapping: the two concepts are equivalent) FA FRDA Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing. Orphanet ICD-10:G11.1 ICD-11:8A03.10 MeSH:D005621 MedDRA:10017374 OMIM:229300 OMIM:601992 UMLS:C0016719 Autosomal recessive Adolescent Childhood Czech Republic AND has_point_prevalence_average_value : 0.27 AND has_point_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Russian Federation AND has_point_prevalence_average_value : 3.03 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95 Friedreich ataxia ORPHA:95 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8A03.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005621 E (Exact mapping: the two concepts are equivalent) MedDRA:10017374 E (Exact mapping: the two concepts are equivalent) OMIM:229300 E (Exact mapping: the two concepts are equivalent) OMIM:601992 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0016719 E (Exact mapping: the two concepts are equivalent) Acrodysostosis with or without multiple hormonal resistance Acrodysplasia Arkless-Graham syndrome Maroteaux-Malamut syndrome An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. Orphanet ICD-10:Q75.4 ICD-11:LD2F.16 MeSH:C538179 MedDRA:10079856 OMIM:101800 OMIM:614613 UMLS:C0220659 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=950 Acrodysostosis ORPHA:950 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538179 E (Exact mapping: the two concepts are equivalent) MedDRA:10079856 E (Exact mapping: the two concepts are equivalent) OMIM:101800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614613 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220659 E (Exact mapping: the two concepts are equivalent) A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare). Orphanet ICD-11:5C58.1Y MeSH:C562618 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95157 Acute hepatic porphyria Clinical group ORPHA:95157 ICD-11:5C58.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562618 E (Exact mapping: the two concepts are equivalent) HEP A rare form of hepatic porphyria characterized by bullous photodermatosis. Orphanet ICD-10:E80.2 ICD-11:5C58.1Y MeSH:D017121 OMIM:176100 UMLS:C0162569 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95159 Hepatoerythropoietic porphyria ORPHA:95159 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017121 E (Exact mapping: the two concepts are equivalent) OMIM:176100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0162569 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hepatic porphyria OBSOLETE: Chronic hepatic porphyria ORPHA:95161 Curry-Hall syndrome Weyers acrodental dysostosis Weyers acrofacial dysostosis A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MeSH:C536695 OMIM:193530 UMLS:C0457013 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=952 Acrofacial dysostosis, Weyers type ORPHA:952 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536695 E (Exact mapping: the two concepts are equivalent) OMIM:193530 E (Exact mapping: the two concepts are equivalent) UMLS:C0457013 E (Exact mapping: the two concepts are equivalent) PAFAH1B1-related lissencephaly Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:607432 UMLS:C4749301 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95232 Lissencephaly due to LIS1 mutation ORPHA:95232 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:607432 E (Exact mapping: the two concepts are equivalent) UMLS:C4749301 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acromesomelic dysplasia, Maroteaux type OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type ORPHA:953 Acute adrenal failure Acute adrenocortical insufficiency Addisonian crisis Adrenal crisis Adrenocortical crisis A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. Orphanet ICD-10:E27.2 ICD-11:5A74.1 MedDRA:10001389 UMLS:C0151467 Autosomal recessive Not applicable X-linked dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95409 Acute adrenal insufficiency ORPHA:95409 ICD-10:E27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10001389 E (Exact mapping: the two concepts are equivalent) UMLS:C0151467 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare neurologic disease OBSOLETE: Chronic pain requiring intraspinal analgesia ORPHA:95426 Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. Orphanet ICD-10:K91.2 UMLS:C5681579 Not applicable All ages Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95427 Secondary short bowel syndrome ORPHA:95427 ICD-10:K91.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681579 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIh CDG-IIh CDG2H Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h Congenital disorder of glycosylation type IIh The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. Orphanet ICD-10:E77.8 ICD-11:5C54.2 MeSH:C566987 OMIM:611182 UMLS:C1970021 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95428 COG8-CDG ORPHA:95428 ICD-10:E77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566987 E (Exact mapping: the two concepts are equivalent) OMIM:611182 E (Exact mapping: the two concepts are equivalent) UMLS:C1970021 E (Exact mapping: the two concepts are equivalent) A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. Orphanet ICD-10:L81.7 ICD-11:LC50.Y MedDRA:10086217 OMIM:106050 OMIM:300652 UMLS:C0263637 Autosomal dominant Not applicable X-linked recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95429 Angioma serpiginosum ORPHA:95429 ICD-10:L81.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LC50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10086217 E (Exact mapping: the two concepts are equivalent) OMIM:106050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300652 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0263637 E (Exact mapping: the two concepts are equivalent) Congenital major airway collapse Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. Orphanet ICD-10:Q32.0 ICD-11:LA73.1 MeSH:C557675 MedDRA:10010654 UMLS:C0392109 No data available Infancy Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95430 Congenital tracheomalacia ORPHA:95430 ICD-10:Q32.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA73.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C557675 E (Exact mapping: the two concepts are equivalent) MedDRA:10010654 E (Exact mapping: the two concepts are equivalent) UMLS:C0392109 E (Exact mapping: the two concepts are equivalent) Feto-fetal transfusion syndrome Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated Orphanet ICD-10:O43.0 ICD-10:P02.3 ICD-11:JA8A.0 MeSH:D005330 MedDRA:10058328 UMLS:C2909036 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95431 Twin to twin transfusion syndrome ORPHA:95431 ICD-10:O43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:P02.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:JA8A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005330 E (Exact mapping: the two concepts are equivalent) MedDRA:10058328 E (Exact mapping: the two concepts are equivalent) UMLS:C2909036 E (Exact mapping: the two concepts are equivalent) Mesulam syndrome PPA Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms). Orphanet ICD-11:6D83 MeSH:D018888 MedDRA:10081268 UMLS:C0282513 Multigenic/multifactorial Not applicable Adult Worldwide AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95432 Primary progressive aphasia Clinical group ORPHA:95432 ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018888 E (Exact mapping: the two concepts are equivalent) MedDRA:10081268 E (Exact mapping: the two concepts are equivalent) UMLS:C0282513 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 3 Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome SCABD SCAR3 A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MeSH:C537309 OMIM:271250 UMLS:C1849094 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537309 E (Exact mapping: the two concepts are equivalent) OMIM:271250 E (Exact mapping: the two concepts are equivalent) UMLS:C1849094 E (Exact mapping: the two concepts are equivalent) SCAR4 SCASI A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MeSH:C537310 OMIM:607317 UMLS:C1846492 Autosomal recessive Adult Childhood Elderly Infancy Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome ORPHA:95434 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537310 E (Exact mapping: the two concepts are equivalent) OMIM:607317 E (Exact mapping: the two concepts are equivalent) UMLS:C1846492 E (Exact mapping: the two concepts are equivalent) Midline heart A rare, congenital non-syndromic heart malformation characterized by an atypical location of the heart in a central position in the thorax, with the apex in the midline of the thorax. Atria are usually situs solitus, whereas ventricles may be situs inversus. Various congenital heart anomalies and visceral situs inversus have also been associated. Orphanet ICD-10:Q24.8 ICD-11:LA80.2 UMLS:C0265865 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95443 Mesocardia ORPHA:95443 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA80.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0265865 E (Exact mapping: the two concepts are equivalent) ICD-10:Q23.0 ICD-11:LA8A.23 MedDRA:10066801 UMLS:C0265843 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95448 Congenital aortic valve atresia Clinical subtype ORPHA:95448 ICD-10:Q23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.23 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066801 E (Exact mapping: the two concepts are equivalent) UMLS:C0265843 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Aortic malformation OBSOLETE: Congenital aortic valve insufficiency ORPHA:95449 Epidermal necrolysis SJS-TEN A rare toxic dermatosis with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. Orphanet ICD-10:L51.2 ICD-11:EB13 OMIM:608579 UMLS:C3658302 Not applicable All ages Germany AND has_annual_incidence_average_value : 0.189 AND has_annual_incidence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.19 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.19 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum ORPHA:95455 ICD-10:L51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB13 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:608579 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3658302 E (Exact mapping: the two concepts are equivalent) Congenital unguarded tricuspid orifice A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure. Orphanet ICD-10:Q22.4 ICD-11:LA87.0Y UMLS:C0685715 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95457 Tricuspid valve agenesis ORPHA:95457 ICD-10:Q22.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0685715 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital tricuspid malformation OBSOLETE: Tricuspid valve prolapse ORPHA:95458 A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others. Orphanet ICD-10:Q22.4 ICD-11:LA87.01 MedDRA:10010656 UMLS:C0265836 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95459 Congenital tricuspid stenosis ORPHA:95459 ICD-10:Q22.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA87.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10010656 E (Exact mapping: the two concepts are equivalent) UMLS:C0265836 E (Exact mapping: the two concepts are equivalent) Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation. Orphanet ICD-10:Q22.8 ICD-11:LA87.0Y UMLS:C5681575 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95461 Straddling or overriding tricuspid valve ORPHA:95461 ICD-10:Q22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.0Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681575 E (Exact mapping: the two concepts are equivalent) A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly. Orphanet ICD-10:Q22.8 UMLS:C5566613 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95462 Accessory tricuspid valve tissue ORPHA:95462 ICD-10:Q22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5566613 E (Exact mapping: the two concepts are equivalent) A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association. Orphanet ICD-10:Q22.8 UMLS:C5681574 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95463 Anomaly of the tricuspid subvalvular apparatus Category ORPHA:95463 ICD-10:Q22.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681574 E (Exact mapping: the two concepts are equivalent) UMLS:C5681577 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95464 Congenital mitral valve insufficiency and/or stenosis Category ORPHA:95464 UMLS:C5681577 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies. Orphanet ICD-10:Q23.3 UMLS:C0344772 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95465 Cleft mitral valve ORPHA:95465 ICD-10:Q23.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0344772 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported. Orphanet ICD-10:Q23.8 ICD-11:LA87.1Y UMLS:C0344770 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95474 Double-orifice mitral valve Clinical subtype ORPHA:95474 ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344770 E (Exact mapping: the two concepts are equivalent) UMLS:C5681576 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95483 Univentricular cardiopathy Category ORPHA:95483 UMLS:C5681576 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial thoracic aortic aneurysm and aortic dissection OBSOLETE: Aneurysm or dilatation of ascending aorta ORPHA:95484 Patent ductus arteriosus anomalies UMLS:C5680258 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95485 Arterial duct anomaly Category ORPHA:95485 UMLS:C5680258 E (Exact mapping: the two concepts are equivalent) Premature closure of the patent ductus arteriosus Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids. Orphanet ICD-10:Q25.8 UMLS:C3532264 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95486 Premature closure of the arterial duct ORPHA:95486 ICD-10:Q25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3532264 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Atypical patent ductus arteriosus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Atypical arterial duct ORPHA:95487 UMLS:C5681572 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95488 Non-acquired pituitary hormone deficiency Category ORPHA:95488 UMLS:C5681572 E (Exact mapping: the two concepts are equivalent) Congenital coronary aneurysm Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure. Orphanet ICD-10:Q24.5 ICD-11:LA8C.Y UMLS:C0340627 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95491 Congenital coronary artery aneurysm ORPHA:95491 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8C.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0340627 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Anomalous aortic origin of coronary artery OBSOLETE: Abnormal origin or aberrant course of coronary artery ORPHA:95493 Familial congenital hypopituitarism Multiple pituitary hormone deficiencies, genetic forms Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Orphanet ICD-10:E23.0 OMIM:182230 OMIM:262600 OMIM:613986 UMLS:C4273747 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95494 Combined pituitary hormone deficiencies, genetic forms ORPHA:95494 ICD-10:E23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:182230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:262600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613986 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4273747 E (Exact mapping: the two concepts are equivalent) UMLS:C5681573 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95495 Disease associated with non-acquired combined pituitary hormone deficiency Category ORPHA:95495 UMLS:C5681573 E (Exact mapping: the two concepts are equivalent) Ectopic neurohypophysis PSIS Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. Orphanet ICD-10:E23.6 ICD-11:5A61.0 MedDRA:10088621 UMLS:C4053775 Autosomal dominant Autosomal recessive Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95496 Pituitary stalk interruption syndrome ORPHA:95496 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10088621 E (Exact mapping: the two concepts are equivalent) UMLS:C4053775 E (Exact mapping: the two concepts are equivalent) Congenital anomaly of superior caval vein Congenital anomaly of the SVC ICD-11:LA86.Y UMLS:C0265928 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95498 Congenital anomaly of superior vena cava Category ORPHA:95498 ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265928 E (Exact mapping: the two concepts are equivalent) Congenital anomaly of the IVC Congenital anomaly of the inferior caval vein ICD-11:LA86.Y UMLS:C0265932 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95499 Congenital anomaly of the inferior vena cava Category ORPHA:95499 ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265932 E (Exact mapping: the two concepts are equivalent) Acroosteolysis dominant type Acroosteolysis with osteoporosis and changes in skull and mandible Arthrodentoosteodysplasia Cheney syndrome A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. Orphanet ICD-10:M89.5 ICD-11:FB86.2 MeSH:D031845 OMIM:102400 OMIM:102500 UMLS:C0917715 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=955 Hajdu-Cheney syndrome ORPHA:955 ICD-10:M89.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB86.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D031845 E (Exact mapping: the two concepts are equivalent) OMIM:102400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:102500 E (Exact mapping: the two concepts are equivalent) UMLS:C0917715 E (Exact mapping: the two concepts are equivalent) ICD-11:LA86.Y UMLS:C5681568 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95500 Congenital anomaly of the coronary sinus Category ORPHA:95500 ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681568 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Central diabetes insipidus OBSOLETE: Congenital central diabetes insipidus ORPHA:95501 UMLS:C5681569 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95502 Acquired pituitary hormone deficiency Category ORPHA:95502 UMLS:C5681569 E (Exact mapping: the two concepts are equivalent) UMLS:C5681570 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95503 Pituitary hormone deficiency of tumoral origin Category ORPHA:95503 UMLS:C5681570 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pituitary hormone deficiency of tumoral origin OBSOLETE: Metastatic pituitary hormone deficiency ORPHA:95504 UMLS:C5681567 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95505 Pituitary hormone deficiency of meningeal origin Category ORPHA:95505 UMLS:C5681567 E (Exact mapping: the two concepts are equivalent) Autoimmune hypophysitis MeSH:D000069281 UMLS:C0342410 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95506 Primary hypophysitis Clinical group ORPHA:95506 MeSH:D000069281 E (Exact mapping: the two concepts are equivalent) UMLS:C0342410 E (Exact mapping: the two concepts are equivalent) ICD-10:Q26.8 ICD-11:LB20.0Y UMLS:C3163825 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95507 Congenital anomaly of hepatic vein ORPHA:95507 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB20.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3163825 E (Exact mapping: the two concepts are equivalent) Atrial auricle anomaly ICD-10:Q20.8 UMLS:C5680257 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95510 Atrial appendage anomaly Category ORPHA:95510 ICD-10:Q20.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680257 E (Exact mapping: the two concepts are equivalent) Anterior pituitary hypophysitis A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period. Orphanet ICD-10:E23.6 UMLS:C5190880 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95512 Adenohypophysitis ORPHA:95512 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190880 E (Exact mapping: the two concepts are equivalent) Infundibulo-panhypophysitis A type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue. Orphanet ICD-10:E23.6 UMLS:C5190786 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95513 Panhypophysitis ORPHA:95513 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190786 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Poland syndrome Acropectororenal dysplasia ORPHA:956 UMLS:C5681571 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95611 Pituitary hormone deficiency of vascular origin Category ORPHA:95611 UMLS:C5681571 E (Exact mapping: the two concepts are equivalent) Pituitary tumor apoplexy A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. Acute endocrine dysfunction may also be present, most commonly corticotropic deficiency with severe hypotension and hyponatremia as well as secondary adrenal failure, but also thyrotropic and gonadotropic deficiency. Orphanet ICD-10:E23.6 ICD-11:5A61.0 MeSH:D010899 MedDRA:10056447 UMLS:C0032001 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95613 Pituitary apoplexy ORPHA:95613 ICD-10:E23.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D010899 E (Exact mapping: the two concepts are equivalent) MedDRA:10056447 E (Exact mapping: the two concepts are equivalent) UMLS:C0032001 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Pituitary hormone deficiency of meningeal origin OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage ORPHA:95614 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pituitary hormone deficiency of vascular origin OBSOLETE: Pituitary deficiency secondary to an anevrysm ORPHA:95615 UMLS:C5681566 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95617 Pituitary hormone deficiency secondary to a granulomatous disease Category ORPHA:95617 UMLS:C5681566 E (Exact mapping: the two concepts are equivalent) UMLS:C5681565 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95618 Pituitary hormone deficiency secondary to storage disease Category ORPHA:95618 UMLS:C5681565 E (Exact mapping: the two concepts are equivalent) A rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency. Orphanet ICD-10:E23.1 UMLS:C0342400 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95619 Post-traumatic pituitary deficiency ORPHA:95619 ICD-10:E23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0342400 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Post-traumatic pituitary deficiency OBSOLETE: Postsurgical hypopituitarism ORPHA:95621 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Radiation-induced disorder OBSOLETE: Radiation-induced hypopituitarism ORPHA:95622 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Post-traumatic pituitary deficiency OBSOLETE: Posttraumatic hypopituitarism ORPHA:95623 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acquired central diabetes insipidus OBSOLETE: Posttraumatic diabetes insipidus ORPHA:95625 Acquired CDI Acquired neurogenic diabetes insipidus A subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production. Orphanet ICD-10:E23.2 ICD-11:5A61.5 UMLS:C5680256 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95626 Acquired arginine vasopressin deficiency Clinical subtype ORPHA:95626 ICD-10:E23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680256 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: NCAH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:95698 Congenital adrenal hyperplasia due to cytochrome POR deficiency POR deficiency PORD A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency. Orphanet ICD-10:E25.0 ICD-11:5A71.01 OMIM:613571 Autosomal recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699 ICD-10:E25.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A71.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613571 E (Exact mapping: the two concepts are equivalent) F syndrome A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). Orphanet ICD-10:Q74.8 ICD-11:LD26.2 MeSH:C566319 OMIM:102510 UMLS:C1863307 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=957 Acropectorovertebral dysplasia ORPHA:957 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566319 E (Exact mapping: the two concepts are equivalent) OMIM:102510 E (Exact mapping: the two concepts are equivalent) UMLS:C1863307 E (Exact mapping: the two concepts are equivalent) Familial adrenal hypoplasia with absent pituitary LH Familial adrenal hypoplasia, miniature type A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:E27.1 ICD-11:5A74.Y OMIM:202150 UMLS:C5190711 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700 ICD-10:E27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:202150 E (Exact mapping: the two concepts are equivalent) UMLS:C5190711 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acquired chronic primary adrenal insufficiency OBSOLETE: Congenital adrenal hypoplasia of maternal cause ORPHA:95701 X-linked AHC X-linked congenital adrenal hypoplasia A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions. Orphanet ICD-10:E27.1 ICD-11:LC80 OMIM:202155 OMIM:300200 UMLS:C0342482 X-linked recessive Childhood Infancy Worldwide AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95702 X-linked adrenal hypoplasia congenita ORPHA:95702 ICD-10:E27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:202155 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300200 E (Exact mapping: the two concepts are equivalent) UMLS:C0342482 E (Exact mapping: the two concepts are equivalent) Hypospadias, severe form Perineal, scrotal or penoscrotal hypospadias A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis. Orphanet ICD-10:Q54.2 ICD-10:Q54.3 ICD-11:LB53.2 ICD-11:LB53.3 ICD-11:LB53.4 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 UMLS:C5231010 Multigenic/multifactorial X-linked recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 19.25 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95706 Non-syndromic posterior hypospadias ORPHA:95706 ICD-10:Q54.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q54.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB53.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB53.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB53.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:146450 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300633 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300758 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300856 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5231010 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause. Orphanet ICD-10:Q55.6 ICD-11:LB50 UMLS:C5681560 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95707 Idiopathic isolated micropenis ORPHA:95707 ICD-10:Q55.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681560 E (Exact mapping: the two concepts are equivalent) UMLS:C5681561 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95708 Rare precocious puberty Category ORPHA:95708 UMLS:C5681561 E (Exact mapping: the two concepts are equivalent) ICD-10:E28.8 UMLS:C4303540 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95709 Rare acquired premature ovarian failure Category ORPHA:95709 ICD-10:E28.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4303540 E (Exact mapping: the two concepts are equivalent) ICD-10:E28.3 UMLS:C5681564 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95710 Rare non-acquired premature ovarian failure Category ORPHA:95710 ICD-10:E28.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681564 E (Exact mapping: the two concepts are equivalent) Primary congenital hypothyroidism due to developmental anomaly Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth. Orphanet ICD-10:E03.1 UMLS:C5680255 Europe AND has_point_prevalence_average_value : 21.3 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95711 Congenital hypothyroidism due to developmental anomaly Category ORPHA:95711 ICD-10:E03.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680255 E (Exact mapping: the two concepts are equivalent) Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth. Orphanet ICD-10:E03.1 ICD-11:5A00.01 OMIM:218700 OMIM:225250 UMLS:C5681563 Not applicable Infancy Neonatal Europe AND has_point_prevalence_average_value : 14.3 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95712 Thyroid ectopia ORPHA:95712 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:218700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:225250 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681563 E (Exact mapping: the two concepts are equivalent) A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. Orphanet ICD-10:E03.1 ICD-11:5A00.01 OMIM:218700 OMIM:225250 UMLS:C4305275 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95713 Athyreosis ORPHA:95713 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:218700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:225250 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4305275 E (Exact mapping: the two concepts are equivalent) Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal. Orphanet UMLS:C5681562 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95714 Primary congenital hypothyroidism without thyroid developmental anomaly Category ORPHA:95714 UMLS:C5681562 E (Exact mapping: the two concepts are equivalent) Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent. Orphanet ICD-10:P72.2 UMLS:C4273914 Not applicable Neonatal Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies ORPHA:95715 ICD-10:P72.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4273914 E (Exact mapping: the two concepts are equivalent) Thyroid dyshormonogenesis Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Orphanet ICD-10:E03.0 ICD-10:E03.1 ICD-11:5A00.00 OMIM:274400 OMIM:274500 OMIM:274700 OMIM:274800 OMIM:274900 OMIM:607200 UMLS:C4273748 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 4.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 2.67 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95716 Familial thyroid dyshormonogenesis ORPHA:95716 ICD-10:E03.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:274400 E (Exact mapping: the two concepts are equivalent) OMIM:274500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:274700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:274800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:274900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607200 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4273748 E (Exact mapping: the two concepts are equivalent) Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown. Orphanet ICD-10:E03.1 ICD-11:5A00.0Y UMLS:C4273913 Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95717 Idiopathic congenital hypothyroidism ORPHA:95717 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4273913 E (Exact mapping: the two concepts are equivalent) UMLS:C5681582 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95718 Congenital thyroid malformation without hypothyroidism Category ORPHA:95718 UMLS:C5681582 E (Exact mapping: the two concepts are equivalent) Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth. Orphanet ICD-10:E03.1 ICD-11:5A00.01 MedDRA:10077609 OMIM:218700 UMLS:C4023190 Not applicable Neonatal Worldwide AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95719 Thyroid hemiagenesis ORPHA:95719 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10077609 E (Exact mapping: the two concepts are equivalent) OMIM:218700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4023190 E (Exact mapping: the two concepts are equivalent) Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth. Orphanet ICD-10:E03.1 ICD-11:5A00.01 MedDRA:10065938 OMIM:218700 OMIM:225250 UMLS:C0151516 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95720 Thyroid hypoplasia ORPHA:95720 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10065938 E (Exact mapping: the two concepts are equivalent) OMIM:218700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:225250 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0151516 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital thyroid malformation without hypothyroidism OBSOLETE: Thyroid pyramidal lobe ORPHA:95721 Split hand/split foot-mandibular hypoplasia syndrome A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C535665 OMIM:200980 UMLS:C1860166 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=958 Acro-renal-mandibular syndrome ORPHA:958 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535665 E (Exact mapping: the two concepts are equivalent) OMIM:200980 E (Exact mapping: the two concepts are equivalent) UMLS:C1860166 E (Exact mapping: the two concepts are equivalent) Isolated levocardia Levocardia with situs inversus A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by the heart located in the normal (levo) position associated with abdominal viscera located in the dextro position. Cardiac (e.g. interrupted inferior vena cava with azygous continuation) and/or splenic (asplenia, polysplenia) anomalies, as well as intestinal malrotation, are frequently associated. Orphanet ICD-10:Q24.1 ICD-11:LA80.0 MeSH:D007979 MedDRA:10071015 UMLS:C0023569 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95854 Levocardia ORPHA:95854 ICD-10:Q24.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA80.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007979 E (Exact mapping: the two concepts are equivalent) MedDRA:10071015 E (Exact mapping: the two concepts are equivalent) UMLS:C0023569 E (Exact mapping: the two concepts are equivalent) A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other <i>SALL4</i>-related disorders including Okihiro syndrome and Holt-Oram syndrome. Orphanet ICD-10:Q87.8 OMIM:607323 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=959 Acro-renal-ocular syndrome ORPHA:959 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:607323 NTBT (ORPHAcode is narrower than the targeted code used to represent it) AVED Ataxia with isolated vitamin E deficiency Familial isolated vitamin E deficiency Friedreich-like ataxia Isolated vitamin E deficiency A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. Orphanet ICD-10:G11.1 ICD-11:8A03.10 MeSH:C535393 MedDRA:10047631 OMIM:277460 UMLS:C1848533 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96 Ataxia with vitamin E deficiency ORPHA:96 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535393 E (Exact mapping: the two concepts are equivalent) MedDRA:10047631 E (Exact mapping: the two concepts are equivalent) OMIM:277460 E (Exact mapping: the two concepts are equivalent) UMLS:C1848533 E (Exact mapping: the two concepts are equivalent) Isochromosome 21 Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. Orphanet ICD-10:Q99.8 ICD-11:LD7Y UMLS:C4707057 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96055 Tetrasomy 21 syndrome ORPHA:96055 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707057 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 4 Trisomy 4 mosaicism Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C4272018 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96059 Mosaic trisomy 4 syndrome ORPHA:96059 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4272018 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 5 Trisomy 5 mosaicism Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C2931603 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96060 Mosaic trisomy 5 syndrome ORPHA:96060 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2931603 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 8 Trisomy 8 mosaicism Warkany syndrome A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MeSH:C537940 MedDRA:10053916 UMLS:C1096527 Not applicable Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96061 Mosaic trisomy 8 syndrome ORPHA:96061 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537940 E (Exact mapping: the two concepts are equivalent) MedDRA:10053916 E (Exact mapping: the two concepts are equivalent) UMLS:C1096527 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 10 Trisomy 10 mosaicism Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y UMLS:C2931794 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96063 Mosaic trisomy 10 syndrome ORPHA:96063 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C2931794 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 22 Trisomy 22 mosaicism Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MeSH:C536796 UMLS:C2931327 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96068 Mosaic trisomy 22 syndrome ORPHA:96068 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536796 E (Exact mapping: the two concepts are equivalent) UMLS:C2931327 E (Exact mapping: the two concepts are equivalent) Distal trisomy 1p36 Telomeric duplication 1p36 Trisomy 1pter Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.01 UMLS:C4707665 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96069 Distal duplication 1p36 syndrome ORPHA:96069 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707665 E (Exact mapping: the two concepts are equivalent) Distal trisomy 2p Telomeric duplication 2p Trisomy 2pter Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. Orphanet ICD-10:Q92.3 ICD-11:LD41.11 UMLS:C4706937 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96070 Distal duplication 2p syndrome ORPHA:96070 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706937 E (Exact mapping: the two concepts are equivalent) Distal trisomy 3p Telomeric duplication 3p Trisomy 3pter Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. Orphanet ICD-10:Q92.3 ICD-11:LD41.21 UMLS:C4706938 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96071 Distal duplication 3p syndrome ORPHA:96071 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706938 E (Exact mapping: the two concepts are equivalent) Distal duplication 4p Distal trisomy 4p Telomeric duplication 4p Trisomy 4pter 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.31 UMLS:C4512053 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96072 4p16.3 microduplication syndrome ORPHA:96072 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4512053 E (Exact mapping: the two concepts are equivalent) Distal trisomy 7p Telomeric duplication 7p Trisomy 7pter Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.61 UMLS:C4706364 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96074 Distal duplication 7p syndrome ORPHA:96074 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706364 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.3 ICD-11:LD2C UMLS:C5681581 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication Etiological subtype ORPHA:96076 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681581 E (Exact mapping: the two concepts are equivalent) Distal duplication 16p Distal trisomy 16p Dup(16)(p13.3) Telomeric duplication 16p Trisomy 16pter 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. Orphanet ICD-10:Q92.3 OMIM:613458 UMLS:C4518796 Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96078 16p13.3 microduplication syndrome ORPHA:96078 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613458 E (Exact mapping: the two concepts are equivalent) UMLS:C4518796 E (Exact mapping: the two concepts are equivalent) Invdupdel(8p) Inverted 8p duplication/deletion syndrome A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%). Orphanet ICD-10:Q99.8 ICD-11:LD41.P UMLS:C4273676 Not applicable Unknown Infancy Neonatal Italy AND has_birth_prevalence_average_value : 3.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96092 8p inverted duplication/deletion syndrome ORPHA:96092 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.P - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4273676 E (Exact mapping: the two concepts are equivalent) Distal trisomy 2q Telomeric duplication 2q Trisomy 2qter Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. Orphanet ICD-10:Q92.3 UMLS:C4706361 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96094 Distal duplication 2q syndrome ORPHA:96094 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706361 E (Exact mapping: the two concepts are equivalent) Dup(3)(q26) Dup(3q) syndrome Trisomy 3q26 A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. Orphanet ICD-10:Q92.3 ICD-11:LD41.20 UMLS:C4755319 Antenatal Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96095 3q26 microduplication syndrome ORPHA:96095 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4755319 E (Exact mapping: the two concepts are equivalent) Distal trisomy 4q Telomeric duplication 4q Trisomy 4qter Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.30 UMLS:C4706362 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96096 Distal duplication 4q syndrome ORPHA:96096 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.30 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706362 E (Exact mapping: the two concepts are equivalent) Distal trisomy 5q Telomeric duplication 5q Trisomy 5qter Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). Orphanet ICD-10:Q92.3 ICD-11:LD41.40 UMLS:C4706363 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96097 Distal duplication 5q syndrome ORPHA:96097 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706363 E (Exact mapping: the two concepts are equivalent) Distal trisomy 6q Telomeric duplication 6q Trisomy 6qter Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.50 MeSH:C537810 UMLS:C0795817 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96098 Distal duplication 6q syndrome ORPHA:96098 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537810 E (Exact mapping: the two concepts are equivalent) UMLS:C0795817 E (Exact mapping: the two concepts are equivalent) Distal trisomy 8q Telomeric duplication 8q Trisomy 8qter Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). Orphanet ICD-10:Q92.3 ICD-11:LD41.70 UMLS:C4706365 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96100 Distal duplication 8q syndrome ORPHA:96100 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706365 E (Exact mapping: the two concepts are equivalent) Distal trisomy 9q Telomeric duplication 9q Trisomy 9qter Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. Orphanet ICD-10:Q92.3 ICD-11:LD41.80 UMLS:C4706939 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96101 Distal duplication 9q syndrome ORPHA:96101 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706939 E (Exact mapping: the two concepts are equivalent) Distal trisomy 10q Telomeric duplication 10q Trisomy 10qter Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. Orphanet ICD-10:Q92.3 ICD-11:LD41.90 MeSH:C538087 UMLS:C2931728 Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96102 Distal duplication 10q syndrome ORPHA:96102 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538087 E (Exact mapping: the two concepts are equivalent) UMLS:C2931728 E (Exact mapping: the two concepts are equivalent) Distal trisomy 11q Telomeric duplication 11q Trisomy 11qter Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. Orphanet ICD-10:Q92.3 MeSH:C538294 UMLS:C2931797 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96103 Distal duplication 11q syndrome ORPHA:96103 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538294 E (Exact mapping: the two concepts are equivalent) UMLS:C2931797 E (Exact mapping: the two concepts are equivalent) Distal trisomy 13q Telomeric duplication 13q Trisomy 13qter Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.C UMLS:C4706933 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96105 Distal duplication 13q syndrome ORPHA:96105 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706933 E (Exact mapping: the two concepts are equivalent) Distal trisomy 16q Telomeric duplication 16q Trisomy 16qter Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.F0 UMLS:C4706934 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96106 Distal duplication 16q syndrome ORPHA:96106 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.F0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706934 E (Exact mapping: the two concepts are equivalent) Distal trisomy 20q Telomeric duplication 20q Trisomy 20qter Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.K0 UMLS:C4706935 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96107 Distal duplication 20q syndrome ORPHA:96107 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.K0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706935 E (Exact mapping: the two concepts are equivalent) Distal trisomy 22q Telomeric duplication 22q Trisomy 22qter Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.M UMLS:C4706936 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96109 Distal duplication 22q syndrome ORPHA:96109 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.M - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706936 E (Exact mapping: the two concepts are equivalent) Non-distal trisomy 9q Non-telomeric trisomy 9q Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.80 UMLS:C4707261 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96112 Non-distal duplication 9q syndrome ORPHA:96112 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.80 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707261 E (Exact mapping: the two concepts are equivalent) Dup(7)(q11.23) Trisomy 7q11.23 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. Orphanet ICD-10:Q92.3 ICD-11:LD41.60 OMIM:609757 UMLS:C4512054 Infancy Neonatal Worldwide AND has_cases/families_value : 163.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96121 7q11.23 microduplication syndrome ORPHA:96121 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609757 E (Exact mapping: the two concepts are equivalent) UMLS:C4512054 E (Exact mapping: the two concepts are equivalent) Del(22) Deletion 22 A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. Orphanet ICD-10:Q93.0 UMLS:C0795878 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96123 Monosomy 22 syndrome ORPHA:96123 ICD-10:Q93.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0795878 E (Exact mapping: the two concepts are equivalent) 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome Distal deletion 6p25 Monosomy 6p25 Monosomy 6pter Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Orphanet ICD-10:Q93.5 ICD-11:LD44.61 OMIM:612582 UMLS:C4305276 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96125 Distal deletion 6p syndrome ORPHA:96125 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612582 E (Exact mapping: the two concepts are equivalent) UMLS:C4305276 E (Exact mapping: the two concepts are equivalent) Distal monosomy 7p Monosomy 7pter Telomeric deletion 7p Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis. Orphanet ICD-10:Q93.5 ICD-11:LD44.71 UMLS:C5190515 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96126 Distal deletion 7p syndrome ORPHA:96126 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.71 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190515 E (Exact mapping: the two concepts are equivalent) Distal deletion 19p13.3 Distal monosomy 19p13.3 Telomeric deletion 19p Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). Orphanet ICD-10:Q93.5 ICD-11:LD44.K1 UMLS:C4749277 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96129 Distal deletion 19p syndrome ORPHA:96129 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.K1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749277 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Non-distal deletion 7p OBSOLETE: Non-telomeric monosomy 7p This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial deletion of the short arm of chromosome 7 OBSOLETE: Non-distal monosomy 7p ORPHA:96136 Distal monosomy 4q Monosomy 4qter Telomeric deletion 4q A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. Orphanet ICD-10:Q93.5 ICD-11:LD44.40 UMLS:C5190514 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96145 Distal deletion 4q syndrome ORPHA:96145 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.40 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190514 E (Exact mapping: the two concepts are equivalent) 9q subtelomeric deletion syndrome 9qSTDS Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to monosomy 9q34 ICD-10:Q87.8 ICD-11:LD2F.1Y OMIM:610253 UMLS:C0795833 Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 86.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96147 Kleefstra syndrome due to 9q34 microdeletion Etiological subtype ORPHA:96147 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610253 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0795833 E (Exact mapping: the two concepts are equivalent) Deletion 10qter Distal monosomy 10q Monosomy 10qter Telomeric deletion 10q Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. Orphanet ICD-10:Q93.5 ICD-11:LD44.A0 OMIM:609625 UMLS:C4305277 Not applicable Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96148 Distal deletion 10q syndrome ORPHA:96148 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.A0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609625 E (Exact mapping: the two concepts are equivalent) UMLS:C4305277 E (Exact mapping: the two concepts are equivalent) Distal monosomy 12q Monosomy 12qter Telomeric deletion 12q A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay, intellectual disability, behavioral abnormalities, variable dysmorphic facial features (including microcephalus, coarse face, synophrys, epicanthal folds, large bulbous nose, small ears, low-set and posteriorly rotated ears, or large tongue, among others), and other anomalies such as malformations of the hands and fingers/feet and toes, skin and nail abnormalities, and genitourinary and cardiac abnormalities, among others. Orphanet ICD-10:Q93.5 ICD-11:LD44.C0 UMLS:C5680262 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96149 Distal deletion 12q syndrome ORPHA:96149 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.C0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680262 E (Exact mapping: the two concepts are equivalent) Distal monosomy 14q Telomeric deletion 14q Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. Orphanet ICD-10:Q93.5 UMLS:C4749276 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96150 Distal deletion 14q syndrome ORPHA:96150 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749276 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Distal deletion 20q OBSOLETE: Monosomy 20qter OBSOLETE: Telomeric deletion 20q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using 20q13.33 microdeletion syndrome OBSOLETE: Distal monosomy 20q ORPHA:96152 Non-distal monosomy 12q Non-telomeric monosomy 12q A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. Orphanet ICD-10:Q93.5 UMLS:C5190525 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96160 Non-distal deletion 12q syndrome ORPHA:96160 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190525 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Non-distal deletion 20q OBSOLETE: Non-telomeric monosomy 20q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using 20q11.2 microdeletion syndrome OBSOLETE: Non-distal monosomy 20q ORPHA:96164 Duplication 8q/deletion 8p Rec(8) syndrome Rec8 syndrome Recombinant chromosome 8 syndrome San Luis Valley syndrome Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. Orphanet ICD-10:Q99.8 ICD-11:LD41.P MeSH:C535296 OMIM:179613 UMLS:C0795822 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96167 Recombinant 8 syndrome ORPHA:96167 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.P - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535296 E (Exact mapping: the two concepts are equivalent) OMIM:179613 E (Exact mapping: the two concepts are equivalent) UMLS:C0795822 E (Exact mapping: the two concepts are equivalent) Del(13)(q34) Distal deletion 13q34 Subtelomeric deletion 13q34 Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. Orphanet ICD-10:Q93.5 ICD-11:LD44.D OMIM:619148 UMLS:C4707797 Not applicable Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96168 Monosomy 13q34 syndrome ORPHA:96168 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:619148 E (Exact mapping: the two concepts are equivalent) UMLS:C4707797 E (Exact mapping: the two concepts are equivalent) KdVS A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. Orphanet ICD-10:Q87.8 ICD-11:LD24.GY OMIM:610443 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96169 Koolen-De Vries syndrome ORPHA:96169 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:610443 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Der(22)t(11;22) syndrome Supernumerary der(22) syndrome A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. Orphanet ICD-10:Q92.6 ICD-11:LD41.Q MeSH:C535733 MedDRA:10079203 OMIM:609029 UMLS:C1836929 Neonatal Worldwide AND has_cases/families_value : 350.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96170 Emanuel syndrome ORPHA:96170 ICD-10:Q92.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.Q - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535733 E (Exact mapping: the two concepts are equivalent) MedDRA:10079203 E (Exact mapping: the two concepts are equivalent) OMIM:609029 E (Exact mapping: the two concepts are equivalent) UMLS:C1836929 E (Exact mapping: the two concepts are equivalent) Ring 2 Ring chromosome 2 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). Orphanet ICD-10:Q93.2 ICD-11:LD7Y UMLS:C4707448 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96171 Ring chromosome 2 syndrome ORPHA:96171 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707448 E (Exact mapping: the two concepts are equivalent) Ring 3 Ring chromosome 3 Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias. Orphanet ICD-10:Q93.2 ICD-11:LD7Y UMLS:C4707449 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96172 Ring chromosome 3 syndrome ORPHA:96172 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707449 E (Exact mapping: the two concepts are equivalent) Ring 9 Ring chromosome 9 A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C538022 UMLS:C0265430 Antenatal Neonatal Worldwide AND has_cases/families_value : 31.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96173 Ring chromosome 9 syndrome ORPHA:96173 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538022 E (Exact mapping: the two concepts are equivalent) UMLS:C0265430 E (Exact mapping: the two concepts are equivalent) RC11 Ring 11 Ring chromosome 11 r(11) syndrome A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Orphanet ICD-10:Q93.2 ICD-11:LD7Y UMLS:C0265444 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96175 Ring chromosome 11 syndrome ORPHA:96175 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265444 E (Exact mapping: the two concepts are equivalent) Ring 13 Ring chromosome 13 A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C538303 UMLS:C0795847 Antenatal Childhood Infancy Neonatal United Kingdom AND has_birth_prevalence_average_value : 1.72 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96176 Ring chromosome 13 syndrome ORPHA:96176 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538303 E (Exact mapping: the two concepts are equivalent) UMLS:C0795847 E (Exact mapping: the two concepts are equivalent) Ring 15 Ring chromosome 15 A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias). Orphanet ICD-10:Q93.2 ICD-11:LD7Y MeSH:C538035 UMLS:C0795855 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96177 Ring chromosome 15 syndrome ORPHA:96177 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538035 E (Exact mapping: the two concepts are equivalent) UMLS:C0795855 E (Exact mapping: the two concepts are equivalent) Ring 16 Ring chromosome 16 A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported. Orphanet ICD-10:Q93.2 ICD-11:LD7Y UMLS:C4706449 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96178 Ring chromosome 16 syndrome ORPHA:96178 ICD-10:Q93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4706449 E (Exact mapping: the two concepts are equivalent) UPD(2)mat Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C4707718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96179 Maternal uniparental disomy of chromosome 2 syndrome ORPHA:96179 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707718 E (Exact mapping: the two concepts are equivalent) UPD(4)mat Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C4707719 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96180 Maternal uniparental disomy of chromosome 4 syndrome ORPHA:96180 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707719 E (Exact mapping: the two concepts are equivalent) UPD(6)mat Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C4707720 Antenatal Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96181 Maternal uniparental disomy of chromosome 6 syndrome ORPHA:96181 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707720 E (Exact mapping: the two concepts are equivalent) UPD(7)mat Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). Orphanet ICD-10:Q87.1 ICD-11:LD2F.1Y UMLS:C5680247 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Etiological subtype ORPHA:96182 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680247 E (Exact mapping: the two concepts are equivalent) UPD(9)mat Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C4707721 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96183 Maternal uniparental disomy of chromosome 9 syndrome ORPHA:96183 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707721 E (Exact mapping: the two concepts are equivalent) UPD(14)mat A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). Orphanet ICD-10:Q99.8 ICD-11:LD2Y OMIM:616222 UMLS:C5680248 Antenatal Neonatal Worldwide AND has_cases/families_value : 64.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 Etiological subtype ORPHA:96184 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:616222 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680248 E (Exact mapping: the two concepts are equivalent) UPD(16)mat Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C4750769 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96185 Maternal uniparental disomy of chromosome 16 syndrome ORPHA:96185 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4750769 E (Exact mapping: the two concepts are equivalent) Maternal UPD(20) UPD(20)mat Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 OMIM:617352 UMLS:C4275029 Antenatal Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96186 Maternal uniparental disomy of chromosome 20 syndrome ORPHA:96186 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:617352 E (Exact mapping: the two concepts are equivalent) UMLS:C4275029 E (Exact mapping: the two concepts are equivalent) UPD(21)mat A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C5190523 Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96187 Maternal uniparental disomy of chromosome 21 syndrome ORPHA:96187 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190523 E (Exact mapping: the two concepts are equivalent) UPD(22)mat Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C5190524 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96188 Maternal uniparental disomy of chromosome 22 syndrome ORPHA:96188 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5190524 E (Exact mapping: the two concepts are equivalent) UPD(5)pat Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C4749377 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96190 Paternal uniparental disomy of chromosome 5 syndrome ORPHA:96190 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749377 E (Exact mapping: the two concepts are equivalent) UPD(6)pat Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C4749378 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96191 Paternal uniparental disomy of chromosome 6 syndrome ORPHA:96191 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749378 E (Exact mapping: the two concepts are equivalent) UPD(7)pat Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C4707802 Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96192 Paternal uniparental disomy of chromosome 7 syndrome ORPHA:96192 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707802 E (Exact mapping: the two concepts are equivalent) Mosaic paternal uniparental disomy of chromosome 11 UPD(11)pat ICD-10:Q87.3 ICD-11:LD2C UMLS:C5680249 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Etiological subtype ORPHA:96193 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680249 E (Exact mapping: the two concepts are equivalent) Paternal UPD(20) UPD(20)pat Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20. Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C4275028 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96194 Paternal uniparental disomy of chromosome 20 syndrome ORPHA:96194 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275028 E (Exact mapping: the two concepts are equivalent) UPD(21)pat Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C4707801 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96195 Paternal uniparental disomy of chromosome 21 syndrome ORPHA:96195 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707801 E (Exact mapping: the two concepts are equivalent) X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. Orphanet ICD-10:Q99.8 ICD-11:LD51 UMLS:C4707824 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96201 X small rings syndrome ORPHA:96201 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4707824 E (Exact mapping: the two concepts are equivalent) Rare genetic hearing loss UMLS:C5680250 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96210 Rare genetic deafness Category ORPHA:96210 UMLS:C5680250 E (Exact mapping: the two concepts are equivalent) Corticotroph pituitary adenoma Pituitary corticotroph micro-adenoma Pituitary-dependent Cushing syndrome A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma. Orphanet ICD-10:D35.2 ICD-10:E24.0 ICD-11:5A70.0 MeSH:D047748 MedDRA:10035109 OMIM:219090 UMLS:C0221406 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96253 Cushing disease ORPHA:96253 ICD-10:D35.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:E24.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D047748 E (Exact mapping: the two concepts are equivalent) MedDRA:10035109 E (Exact mapping: the two concepts are equivalent) OMIM:219090 E (Exact mapping: the two concepts are equivalent) UMLS:C0221406 E (Exact mapping: the two concepts are equivalent) Somatotropinoma OMIM:102200 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96256 Somatotropic adenoma Clinical group ORPHA:96256 OMIM:102200 E (Exact mapping: the two concepts are equivalent) The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. Orphanet ICD-10:Q98.1 MedDRA:10048228 UMLS:C0265498 Not applicable Unknown Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96263 48,XXXY syndrome ORPHA:96263 ICD-10:Q98.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10048228 E (Exact mapping: the two concepts are equivalent) UMLS:C0265498 E (Exact mapping: the two concepts are equivalent) The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. Orphanet ICD-10:Q98.1 UMLS:C0265499 Not applicable Unknown Childhood Europe AND has_birth_prevalence_average_value : 0.55 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96264 49,XXXXY syndrome ORPHA:96264 ICD-10:Q98.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0265499 E (Exact mapping: the two concepts are equivalent) 46,XY DSD due to complete LH receptor inactivation 46,XY DSD due to complete LH resistance 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY DSD due to complete luteinizing hormone resistance 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance ICD-10:Q56.1 ICD-11:LD2A.3 OMIM:238320 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96265 Leydig cell hypoplasia due to complete LH resistance Clinical subtype ORPHA:96265 ICD-10:Q56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:238320 NTBT (ORPHAcode is narrower than the targeted code used to represent it) 46,XY DSD due to partial LH receptor inactivation 46,XY DSD due to partial LH resistance 46,XY DSD due to partial luteinizing hormone resistance 46,XY disorder of sex developement due to partial LH receptor inactivation 46,XY disorder of sex developement due to partial LH resistance 46,XY disorder of sex developement due to partial luteinizing hormone resistance Leydig cell hypoplasia due to partial LH receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance ICD-10:Q56.1 ICD-11:LD2A.3 OMIM:238320 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96266 Leydig cell hypoplasia due to partial LH resistance Clinical subtype ORPHA:96266 ICD-10:Q56.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:238320 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Congenital absence of vagina A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal. Orphanet ICD-10:Q52.0 ICD-11:LB42.0 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96269 Isolated partial vaginal agenesis ORPHA:96269 ICD-10:Q52.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB42.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. Orphanet ICD-10:E22.0 ICD-11:5A60.0 MeSH:D000172 MedDRA:10000599 OMIM:102200 OMIM:300943 UMLS:C0001206 Not applicable Adolescent Adult Childhood Elderly Infancy Belgium AND has_annual_incidence_average_value : 0.19 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_average_value : 8.5 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.77 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_point_prevalence_average_value : 13.4 AND has_point_prevalence_range : 1-5 / 10 000 Ireland AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_point_prevalence_average_value : 6.3 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 9.7 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_annual_incidence_average_value : 0.39 AND has_annual_incidence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 2.79 AND has_point_prevalence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 8.6 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 7.8 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.47 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=963 Acromegaly ORPHA:963 ICD-10:E22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000172 E (Exact mapping: the two concepts are equivalent) MedDRA:10000599 E (Exact mapping: the two concepts are equivalent) OMIM:102200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:300943 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0001206 E (Exact mapping: the two concepts are equivalent) ICD-10:Q92.7 ICD-11:LD42 MeSH:D011123 UMLS:C0032578 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96321 Polyploidy syndrome Category ORPHA:96321 ICD-10:Q92.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD42 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011123 E (Exact mapping: the two concepts are equivalent) UMLS:C0032578 E (Exact mapping: the two concepts are equivalent) UMLS:C5681538 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96325 Isochromosome Y syndrome Category ORPHA:96325 UMLS:C5681538 E (Exact mapping: the two concepts are equivalent) UMLS:C5681539 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96333 Rare otorhinolaryngological malformation Category ORPHA:96333 UMLS:C5681539 E (Exact mapping: the two concepts are equivalent) UPD(14)pat ICD-10:Q99.8 ICD-11:LD2Y OMIM:608149 UMLS:C5680251 Infancy Neonatal Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Etiological subtype ORPHA:96334 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608149 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680251 E (Exact mapping: the two concepts are equivalent) UMLS:C5681537 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96344 Rare gynecologic or obstetric disease Category Head of classification ORPHA:96344 UMLS:C5681537 E (Exact mapping: the two concepts are equivalent) ARM ICD-11:LB17.0 MeSH:D000071056 MedDRA:10082798 UMLS:C3495676 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=96346 Anorectal malformation Category ORPHA:96346 ICD-11:LB17.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000071056 E (Exact mapping: the two concepts are equivalent) MedDRA:10082798 E (Exact mapping: the two concepts are equivalent) UMLS:C3495676 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Childhood-onset schizophrenia OBSOLETE: Early-onset schizophrenia ORPHA:96369 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pachydermoperiostosis OMIM:102100 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome ORPHA:964 OMIM:102100 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cantú syndrome MeSH:C535655 OMIM:102150 UMLS:C0796280 Acromegaloid facial appearance syndrome ORPHA:965 MeSH:C535655 E (Exact mapping: the two concepts are equivalent) OMIM:102150 E (Exact mapping: the two concepts are equivalent) UMLS:C0796280 E (Exact mapping: the two concepts are equivalent) HAFF Hypertrichosis-acromegaloid facial features syndrome Hypertrichosis-coarse face syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cantú syndrome Hypertrichosis-acromegaloid facial appearance syndrome ORPHA:966 Acromesomelic dwarfism A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. Orphanet ICD-10:Q78.8 ICD-11:LD24.9 OMIM:201250 UMLS:C2930970 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=968 Acromesomelic dysplasia, Hunter-Thompson type ORPHA:968 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:201250 E (Exact mapping: the two concepts are equivalent) UMLS:C2930970 E (Exact mapping: the two concepts are equivalent) A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. Orphanet ICD-10:Q77.8 ICD-11:LD24.8Y MeSH:C535662 MedDRA:10083854 OMIM:102370 UMLS:C0265287 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=969 Acromicric dysplasia ORPHA:969 ICD-10:Q77.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535662 E (Exact mapping: the two concepts are equivalent) MedDRA:10083854 E (Exact mapping: the two concepts are equivalent) OMIM:102370 E (Exact mapping: the two concepts are equivalent) UMLS:C0265287 E (Exact mapping: the two concepts are equivalent) Episodic ataxia type 2 A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. Orphanet ICD-10:G11.8 ICD-11:8A03.14 OMIM:108500 UMLS:C1720416 Autosomal dominant Childhood United States AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97 Familial paroxysmal ataxia ORPHA:97 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:108500 E (Exact mapping: the two concepts are equivalent) UMLS:C1720416 E (Exact mapping: the two concepts are equivalent) Autosomal recessive sensory radicular neuropathy HSAN2 Hereditary sensory and autonomic neuropathy type II Neurogenic acroosteolysis A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves. Orphanet ICD-10:G60.8 ICD-11:8C21.Y OMIM:201300 OMIM:243000 OMIM:613115 OMIM:614213 UMLS:C0020072 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=970 Hereditary sensory and autonomic neuropathy type 2 ORPHA:970 ICD-10:G60.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:201300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:243000 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613115 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614213 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020072 E (Exact mapping: the two concepts are equivalent) A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C563159 OMIM:102520 OMIM:201310 UMLS:C3495490 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=971 Acrorenal syndrome ORPHA:971 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563159 E (Exact mapping: the two concepts are equivalent) OMIM:102520 E (Exact mapping: the two concepts are equivalent) OMIM:201310 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3495490 E (Exact mapping: the two concepts are equivalent) A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Orphanet OMIM:108120 OMIM:108145 OMIM:615065 OMIM:618435 OMIM:618436 OMIM:619110 OMIM:620019 UMLS:C0265213 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97120 Distal arthrogryposis Clinical group ORPHA:97120 OMIM:108120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:108145 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615065 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618436 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619110 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620019 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265213 E (Exact mapping: the two concepts are equivalent) Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. Orphanet ICD-10:G71.1 ICD-11:8C7Y MeSH:C563545 OMIM:160120 UMLS:C1834559 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=972 Hereditary continuous muscle fiber activity ORPHA:972 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563545 E (Exact mapping: the two concepts are equivalent) OMIM:160120 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1834559 E (Exact mapping: the two concepts are equivalent) A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH. Orphanet ICD-10:I27.2 ICD-11:BB01.0 MedDRA:10058554 UMLS:C0013743 Not applicable Adolescent Adult Childhood Belgium AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97214 Eisenmenger syndrome ORPHA:97214 ICD-10:I27.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BB01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10058554 E (Exact mapping: the two concepts are equivalent) UMLS:C0013743 E (Exact mapping: the two concepts are equivalent) Brown-Vialetto-van Laere syndrome A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished. Orphanet ICD-10:G12.2 ICD-11:LD2H.Y MeSH:C537111 MedDRA:10084089 OMIM:211500 OMIM:211530 OMIM:614707 UMLS:C4551777 Autosomal recessive Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 109.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97229 Riboflavin transporter deficiency ORPHA:97229 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537111 E (Exact mapping: the two concepts are equivalent) MedDRA:10084089 E (Exact mapping: the two concepts are equivalent) OMIM:211500 E (Exact mapping: the two concepts are equivalent) OMIM:211530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614707 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551777 E (Exact mapping: the two concepts are equivalent) A rare photodermatosis characterized by an abrupt onset of transient erythema, wheals, and pruritus appearing within minutes of exposure to light. Orphanet ICD-10:L56.3 ICD-11:EB01.Y MeSH:D000092130 MedDRA:10041307 UMLS:C0263610 Not applicable All ages United Kingdom AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97230 Solar urticaria ORPHA:97230 ICD-10:L56.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:EB01.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000092130 E (Exact mapping: the two concepts are equivalent) MedDRA:10041307 E (Exact mapping: the two concepts are equivalent) UMLS:C0263610 E (Exact mapping: the two concepts are equivalent) Conjunctivitis lignosa This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypoplasminogenemia MedDRA:10071570 UMLS:C1274789 Ligneous conjunctivitis ORPHA:97231 MedDRA:10071570 E (Exact mapping: the two concepts are equivalent) UMLS:C1274789 E (Exact mapping: the two concepts are equivalent) Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. Orphanet ICD-10:G71.2 ICD-11:8C72.Y MeSH:C564425 OMIM:305550 UMLS:C1844560 Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97232 Fingerprint body myopathy ORPHA:97232 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564425 E (Exact mapping: the two concepts are equivalent) OMIM:305550 E (Exact mapping: the two concepts are equivalent) UMLS:C1844560 E (Exact mapping: the two concepts are equivalent) DiMauro disease GSD due to phosphoglycerate mutase 2 deficiency GSD type 10 Glycogen storage disease due to PGAM2 deficiency Glycogen storage disease due to phosphoglycerate mutase 2 deficiency Glycogen storage disease, type 10 Glycogen storage disease, type X Glycogenosis due to phosphoglycerate mutase 2 deficiency Muscle phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency PGAM deficiency PGAM-M deficiency A rare glycogen storage disease characterized by susceptibility to rhabdomyolysis complicated by episodes of exercise-induced muscle pain, cramping, and myoglobinuria. Tubular aggregates may be present on muscle biopsy. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:261670 UMLS:C0268149 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97234 Glycogen storage disease due to phosphoglycerate mutase deficiency ORPHA:97234 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:261670 E (Exact mapping: the two concepts are equivalent) UMLS:C0268149 E (Exact mapping: the two concepts are equivalent) Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. Orphanet ICD-10:G71.8 ICD-11:8C71.Y MedDRA:10069417 OMIM:600332 OMIM:606072 UMLS:C1853698 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97238 Rippling muscle disease ORPHA:97238 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069417 E (Exact mapping: the two concepts are equivalent) OMIM:600332 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606072 E (Exact mapping: the two concepts are equivalent) UMLS:C1853698 E (Exact mapping: the two concepts are equivalent) Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. Orphanet ICD-10:G71.2 ICD-11:8C72.Y OMIM:300717 OMIM:300718 UMLS:C0270970 Not applicable X-linked dominant Adult Childhood Infancy Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97239 Reducing body myopathy ORPHA:97239 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300717 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300718 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0270970 E (Exact mapping: the two concepts are equivalent) Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the <i>alpha-skeletal actin</i> (<i>ACTA1</i>) gene may be involved. Orphanet ICD-10:G71.2 ICD-11:8C72.0Y UMLS:C0270969 Unknown Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97240 Zebra body myopathy ORPHA:97240 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0270969 E (Exact mapping: the two concepts are equivalent) CMD MDC Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms). Orphanet ICD-11:8C70.6 UMLS:C0699743 Autosomal dominant Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 0.563 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97242 Congenital muscular dystrophy Category ORPHA:97242 ICD-11:8C70.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0699743 E (Exact mapping: the two concepts are equivalent) Rigid spine congenital muscular dystrophy Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. Orphanet ICD-10:G71.2 ICD-11:8C70.6 MeSH:C535683 OMIM:602771 UMLS:C0410180 Autosomal recessive Infancy Neonatal United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97244 Rigid spine syndrome ORPHA:97244 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535683 E (Exact mapping: the two concepts are equivalent) OMIM:602771 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0410180 E (Exact mapping: the two concepts are equivalent) ICD-10:G71.2 ICD-11:8C72 MedDRA:10062547 UMLS:C0270960 United States AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97245 Congenital myopathy Category ORPHA:97245 ICD-10:G71.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C72 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10062547 E (Exact mapping: the two concepts are equivalent) UMLS:C0270960 E (Exact mapping: the two concepts are equivalent) Cerebellar atrophy with progressive microcephaly PCH3 A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Orphanet ICD-10:Q04.3 ICD-11:LD20.01 MeSH:C548072 OMIM:608027 UMLS:C1842687 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97249 Pontocerebellar hypoplasia type 3 ORPHA:97249 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C548072 E (Exact mapping: the two concepts are equivalent) OMIM:608027 E (Exact mapping: the two concepts are equivalent) UMLS:C1842687 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients. Orphanet ICD-10:Q07.8 UMLS:C3164501 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97252 Mega-cisterna magna ORPHA:97252 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3164501 E (Exact mapping: the two concepts are equivalent) PNET Pancreatic NET Pancreatic neuroendocrine tumor Well-differentiated NEN of pancreas Well-differentiated neuroendocrine neoplasm of pancreas Well-differentiated pancreatic NEN Well-differentiated pancreatic neuroendocrine neoplasm Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). Orphanet ICD-11:2C10.1 Autosomal dominant Not applicable Adult Europe AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 1.27 AND has_annual_incidence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 2.69 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 27.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97253 Neuroendocrine tumor of pancreas Category ORPHA:97253 ICD-11:2C10.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). GRF tumor Growth hormone releasing factor tumor GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms). Orphanet ICD-10:C25.9 ICD-11:2C10.1 UMLS:C5680245 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97261 GRFoma ORPHA:97261 ICD-10:C25.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680245 E (Exact mapping: the two concepts are equivalent) MeSH:D004660 MedDRA:10014581 UMLS:C0014038 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97275 Encephalitis Category ORPHA:97275 MeSH:D004660 E (Exact mapping: the two concepts are equivalent) MedDRA:10014581 E (Exact mapping: the two concepts are equivalent) UMLS:C0014038 E (Exact mapping: the two concepts are equivalent) Pancreatic polypeptidoma PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term). Orphanet ICD-10:E16.8 ICD-11:2C10.1 UMLS:C0346407 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97278 PPoma ORPHA:97278 ICD-10:E16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0346407 E (Exact mapping: the two concepts are equivalent) A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia. Orphanet ICD-10:C25.4 ICD-10:D13.7 ICD-10:D37.7 ICD-11:2C10.1 MeSH:D007340 MedDRA:10022498 UMLS:C0021670 Not applicable All ages Europe AND has_point_prevalence_range : Unknown Ireland AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.56 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97279 Insulinoma ORPHA:97279 ICD-10:C25.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:D13.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:D37.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D007340 E (Exact mapping: the two concepts are equivalent) MedDRA:10022498 E (Exact mapping: the two concepts are equivalent) UMLS:C0021670 E (Exact mapping: the two concepts are equivalent) Glucagonoma syndrome Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. Orphanet ICD-10:E16.8 ICD-11:2C10.1 MeSH:D005935 MedDRA:10018404 UMLS:C0017689 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97280 Glucagonoma ORPHA:97280 ICD-10:E16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005935 E (Exact mapping: the two concepts are equivalent) MedDRA:10018404 E (Exact mapping: the two concepts are equivalent) UMLS:C0017689 E (Exact mapping: the two concepts are equivalent) Diarrheogenic islet cell tumor Pancreatic cholera VIP-secreting tumor Verner-Morrison syndrome WDHA syndrome Watery diarrhea-hypokalemia-achlorhydria syndrome VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). Orphanet ICD-10:E16.8 ICD-11:2C10.1 ICD-11:XH72E5 MeSH:D003969 MedDRA:10047430 UMLS:C0011993 Not applicable All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97282 VIPoma ORPHA:97282 ICD-10:E16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH72E5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003969 E (Exact mapping: the two concepts are equivalent) MedDRA:10047430 E (Exact mapping: the two concepts are equivalent) UMLS:C0011993 E (Exact mapping: the two concepts are equivalent) Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria. Orphanet ICD-10:E16.8 ICD-11:2C10.1 MeSH:D013005 MedDRA:10041329 UMLS:C0037661 Unknown Adult Elderly Europe AND has_annual_incidence_average_value : 0.0025 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97283 Somatostatinoma ORPHA:97283 ICD-10:E16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013005 E (Exact mapping: the two concepts are equivalent) MedDRA:10041329 E (Exact mapping: the two concepts are equivalent) UMLS:C0037661 E (Exact mapping: the two concepts are equivalent) A rare primary organ-specific lymphoma characterized by primary origin in the thyroid gland, sometimes involving cervical lymph nodes, and infrequently more distant sites. Diffuse large B-cell lymphoma is most common, followed by MALT lymphoma, and follicular lymphoma. More rare types include T-cell lymphomas, Burkitt lymphoma, or classic Hodgkin lymphoma. The condition is usually associated with Hashimoto thyroiditis. Patients typically present with a mass in the thyroid, with or without cervical lymphadenopathy. Hoarseness and dyspnea may occur, while constitutional symptoms are rare. Prognosis is favorable for patients with localized tumors. Orphanet ICD-10:C85.7 ICD-11:2B33.5 UMLS:C1336753 No data available Worldwide AND has_annual_incidence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97285 Thyroid lymphoma ORPHA:97285 ICD-10:C85.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B33.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1336753 E (Exact mapping: the two concepts are equivalent) Carney dyad Carney-Stratakis dyad GIST-paraganglioma dyad Paraganglioma and gastric stromal sarcoma Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. Orphanet ICD-10:D44.8 ICD-11:2F7A.0 MeSH:C564650 OMIM:606864 UMLS:C1847319 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97286 Carney-Stratakis syndrome ORPHA:97286 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F7A.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564650 E (Exact mapping: the two concepts are equivalent) OMIM:606864 E (Exact mapping: the two concepts are equivalent) UMLS:C1847319 E (Exact mapping: the two concepts are equivalent) Bronchial NET A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1. Orphanet ICD-10:D38.1 ICD-11:2C25.Y UMLS:C1334452 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97287 Bronchial neuroendocrine tumor ORPHA:97287 ICD-10:D38.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1334452 E (Exact mapping: the two concepts are equivalent) A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively. Orphanet ICD-10:C37 ICD-11:2C27.1 UMLS:C5681534 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97289 Thymic neuroendocrine tumor ORPHA:97289 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681534 E (Exact mapping: the two concepts are equivalent) PTC-RCC An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. Orphanet ICD-10:C64 ICD-10:C73 ICD-11:2C90.Y OMIM:605642 UMLS:C5680246 Elderly Worldwide AND has_cases/families_value : 2.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97290 Familial papillary thyroid carcinoma with renal papillary neoplasia ORPHA:97290 ICD-10:C64 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605642 E (Exact mapping: the two concepts are equivalent) UMLS:C5680246 E (Exact mapping: the two concepts are equivalent) A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels. Orphanet ICD-10:R57.0 ICD-11:MG40.0 MeSH:D012770 MedDRA:10007625 UMLS:C0036980 Not applicable Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97292 Cardiogenic shock ORPHA:97292 ICD-10:R57.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:MG40.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012770 E (Exact mapping: the two concepts are equivalent) MedDRA:10007625 E (Exact mapping: the two concepts are equivalent) UMLS:C0036980 E (Exact mapping: the two concepts are equivalent) UMLS:C5681535 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97293 Rare benign ovarian tumor Category ORPHA:97293 UMLS:C5681535 E (Exact mapping: the two concepts are equivalent) Marfanoid habitus-craniosynostosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Loeys-Dietz syndrome MeSH:C538192 UMLS:C2931764 Furlong syndrome ORPHA:97295 MeSH:C538192 E (Exact mapping: the two concepts are equivalent) UMLS:C2931764 E (Exact mapping: the two concepts are equivalent) BOS syndrome Bohring syndrome C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints. Orphanet ICD-10:Q87.8 MeSH:C537419 OMIM:605039 UMLS:C0796232 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 46.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97297 Bohring-Opitz syndrome ORPHA:97297 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537419 E (Exact mapping: the two concepts are equivalent) OMIM:605039 E (Exact mapping: the two concepts are equivalent) UMLS:C0796232 E (Exact mapping: the two concepts are equivalent) Isolated congenital adactyly of hand, unilateral Isolated digits 2-5 hypodactyly, unilateral Isolated digits 2-5 oligodactyly, unilateral Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced. Orphanet ICD-10:Q71.3 ICD-11:LB99.7 MeSH:C562417 OMIM:102650 Autosomal dominant Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral ORPHA:973 ICD-10:Q71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB99.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562417 E (Exact mapping: the two concepts are equivalent) OMIM:102650 E (Exact mapping: the two concepts are equivalent) TOS Thoracic outlet compression syndrome Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms). Orphanet ICD-10:G54.0 ICD-11:8B91.Y MeSH:D013901 MedDRA:10048627 UMLS:C0039984 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97330 Thoracic outlet syndrome ORPHA:97330 ICD-10:G54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8B91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013901 E (Exact mapping: the two concepts are equivalent) MedDRA:10048627 E (Exact mapping: the two concepts are equivalent) UMLS:C0039984 E (Exact mapping: the two concepts are equivalent) Aseptic necrosis of the lunate bone Lunatomalacia Osteochondrosis of the lunate bone Progressive avascular necrosis of the lunate bone Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function. Orphanet ICD-10:M92.2 ICD-10:M93.1 ICD-11:FB81.0 MedDRA:10064242 UMLS:C0022682 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97332 Kienbock disease ORPHA:97332 ICD-10:M92.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:M93.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:FB81.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064242 E (Exact mapping: the two concepts are equivalent) UMLS:C0022682 E (Exact mapping: the two concepts are equivalent) Aseptic necrosis of the tibial tubercle Osteochondrosis of the tibial tubercle Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth. Orphanet ICD-10:M93.2 ICD-11:FB82.1 MedDRA:10031130 UMLS:C0029376 Not applicable Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97335 Osgood-Schlatter disease ORPHA:97335 ICD-10:M93.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10031130 E (Exact mapping: the two concepts are equivalent) UMLS:C0029376 E (Exact mapping: the two concepts are equivalent) Aseptic necrosis of the capital humerus Osteochondrosis of the capital humerus A rare osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Orphanet ICD-10:M92.0 ICD-11:FB82.1 UMLS:C4759831 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97336 Panner disease ORPHA:97336 ICD-10:M92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4759831 E (Exact mapping: the two concepts are equivalent) Aseptic necrosis of patella Osteochondrosis of patella A rare osteochrondrosis characterized by chronic traction injury of the immature osteotendinous junction where the patellar tendon inserts into the inferior pole of the patella. It is typically seen in active adolescents. Patients present with point tenderness at the inferior pole of the patella associated with focal swelling and restriction of knee joint range of movement. Radiographic features include thickening of the proximal patellar tendon (potentially followed by dystrophic calcification and/or ossification) and fragmentation of the inferior pole of the patella. Orphanet ICD-10:M92.4 ICD-11:FB82.1 MedDRA:10063585 UMLS:C1504517 Not applicable Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97337 Sinding-Larsen-Johansson disease ORPHA:97337 ICD-10:M92.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:FB82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10063585 E (Exact mapping: the two concepts are equivalent) UMLS:C1504517 E (Exact mapping: the two concepts are equivalent) Clear cell sarcoma of the tendons and aponeuroses A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones. Orphanet ICD-10:C43.6 ICD-10:C43.7 UMLS:C0206651 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97338 Melanoma of soft tissue ORPHA:97338 ICD-10:C43.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C43.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0206651 E (Exact mapping: the two concepts are equivalent) Cranial dural arteriovenous fistula Cranial dural arteriovenous malformations A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur. Orphanet ICD-10:Q28.3 ICD-11:LA90.2Y UMLS:C3839148 Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97339 Dural sinus malformation ORPHA:97339 ICD-10:Q28.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3839148 E (Exact mapping: the two concepts are equivalent) Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). Orphanet ICD-10:Q87.0 ICD-11:LD24.GY MeSH:C536072 OMIM:601379 UMLS:C1832408 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97340 Hunter-McAlpine syndrome ORPHA:97340 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536072 E (Exact mapping: the two concepts are equivalent) OMIM:601379 E (Exact mapping: the two concepts are equivalent) UMLS:C1832408 E (Exact mapping: the two concepts are equivalent) Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. Orphanet ICD-10:H35.3 ICD-11:9B78.3Y UMLS:C4304823 Adult Elderly Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97341 Persistent placoid maculopathy ORPHA:97341 ICD-10:H35.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B78.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4304823 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Braak disease This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neurodegenerative disease with dementia OBSOLETE: Argyrophilic grain disease ORPHA:97342 Familial dementia, British type A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:5D00.2Y MeSH:C538208 OMIM:176500 UMLS:C5190835 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97345 ABri amyloidosis Clinical subtype ORPHA:97345 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538208 E (Exact mapping: the two concepts are equivalent) OMIM:176500 E (Exact mapping: the two concepts are equivalent) UMLS:C5190835 E (Exact mapping: the two concepts are equivalent) Familial dementia, Danish type A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:5D00.2Y MeSH:C538209 OMIM:117300 UMLS:C1861735 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97346 ADan amyloidosis Clinical subtype ORPHA:97346 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538209 E (Exact mapping: the two concepts are equivalent) OMIM:117300 E (Exact mapping: the two concepts are equivalent) UMLS:C1861735 E (Exact mapping: the two concepts are equivalent) ICD-10:G21.3 ICD-11:8A00.22 MeSH:D010301 UMLS:C0030568 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97349 Postencephalitic parkinsonism ORPHA:97349 ICD-10:G21.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A00.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D010301 E (Exact mapping: the two concepts are equivalent) UMLS:C0030568 E (Exact mapping: the two concepts are equivalent) Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. Orphanet ICD-10:E52 ICD-11:5B5C.0 MeSH:D010383 MedDRA:10029400 UMLS:C0030783 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97352 Pellagra ORPHA:97352 ICD-10:E52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5B5C.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D010383 E (Exact mapping: the two concepts are equivalent) MedDRA:10029400 E (Exact mapping: the two concepts are equivalent) UMLS:C0030783 E (Exact mapping: the two concepts are equivalent) Boxer's dementia Chronic traumatic encephalopathy Punch-drunk syndrome A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions. Orphanet ICD-10:F01.8 ICD-11:8A00.25 MedDRA:10087801 UMLS:C0149843 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97353 Dementia pugilistica ORPHA:97353 ICD-10:F01.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.25 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10087801 E (Exact mapping: the two concepts are equivalent) UMLS:C0149843 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Dementia due to thiamine deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:E51.2 NON RARE IN EUROPE: Wernicke encephalopathy ORPHA:97354 ICD-10:E51.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Atypical parkinsonism in the Caribbean Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. Orphanet ICD-10:F02.3* ICD-10:G20+ ICD-11:8A00.1Y UMLS:C4275027 Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97355 Caribbean parkinsonism ORPHA:97355 ICD-10:F02.3* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G20+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4275027 E (Exact mapping: the two concepts are equivalent) Acral dysostosis with facial and genital abnormalities Fetal face syndrome Mesomelic dwarfism-small genitalia syndrome Robinow dwarfism Robinow-Silverman-Smith syndrome Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Orphanet ICD-10:Q87.1 ICD-11:LD24.A MeSH:C562492 MedDRA:10084325 OMIM:180700 OMIM:268310 OMIM:616331 OMIM:616894 UMLS:C0265205 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97360 Robinow syndrome ORPHA:97360 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD24.A - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562492 E (Exact mapping: the two concepts are equivalent) MedDRA:10084325 E (Exact mapping: the two concepts are equivalent) OMIM:180700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:268310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616331 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616894 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265205 E (Exact mapping: the two concepts are equivalent) A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood Orphanet ICD-10:Q60.3 ICD-11:LB30.0Y UMLS:C0431691 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97361 Renal hypoplasia, unilateral Clinical subtype ORPHA:97361 ICD-10:Q60.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB30.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431691 E (Exact mapping: the two concepts are equivalent) A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure. Orphanet ICD-10:Q60.4 ICD-11:LB30.0Y UMLS:C0431692 Autosomal dominant Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97362 Renal hypoplasia, bilateral Clinical subtype ORPHA:97362 ICD-10:Q60.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB30.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0431692 E (Exact mapping: the two concepts are equivalent) Unilateral MCDK Unilateral multicystic renal dysplasia A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. Orphanet ICD-10:Q61.4 ICD-11:LB30.9 UMLS:C1567426 Autosomal dominant All ages Europe AND has_birth_prevalence_average_value : 14.8 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown Finland AND has_birth_prevalence_average_value : 24.4 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 Saudi Arabia AND has_birth_prevalence_average_value : 108.0 AND has_birth_prevalence_range : >1 / 1000 Switzerland AND has_birth_prevalence_average_value : 60.3 AND has_birth_prevalence_range : 6-9 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 45.4 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 41.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 23.2 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97363 Unilateral multicystic dysplastic kidney Clinical subtype ORPHA:97363 ICD-10:Q61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1567426 E (Exact mapping: the two concepts are equivalent) Bilateral MCDK Bilateral multicystic renal dysplasia A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. Orphanet ICD-10:Q61.4 ICD-11:LB30.9 MeSH:C537373 UMLS:C1840451 Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97364 Bilateral multicystic dysplastic kidney Clinical subtype ORPHA:97364 ICD-10:Q61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537373 E (Exact mapping: the two concepts are equivalent) UMLS:C1840451 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Simple kidney cyst This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Solitary renal cyst ORPHA:97365 Multilocular cyst of the kidney Multilocular renal cyst A rare benign renal tumor characterized by a typically unilateral, solitary, multiloculated cystic mass consisting of small, non-communicating cysts with flat, cuboidal, or hobnail epithelial lining, separated by fibrous septa which may have an ovarian stroma-like appearance or be paucicellular. The tumor is surrounded by a thick fibrous capsule and does not contain solid areas or necrosis. Patients may be asymptomatic or present with a palpable abdominal mass and/or abdominal or flank pain. Age distribution is bimodal, the typical age of onset being either below five or between 40 and 70 years of age. Orphanet ICD-10:D30.0 UMLS:C0431719 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97366 Multiloculated renal cyst ORPHA:97366 ICD-10:D30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0431719 E (Exact mapping: the two concepts are equivalent) A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects). Orphanet ICD-10:Q63.8 ICD-11:LB30.3 UMLS:C5438872 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97367 Renal tubular dysgenesis due to twin-twin transfusion Etiological subtype ORPHA:97367 ICD-10:Q63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5438872 E (Exact mapping: the two concepts are equivalent) ICD-10:Q63.8 ICD-11:LB30.3 UMLS:C5438798 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97368 Drug-related renal tubular dysgenesis Etiological subtype ORPHA:97368 ICD-10:Q63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5438798 E (Exact mapping: the two concepts are equivalent) ICD-10:Q63.8 ICD-11:LB30.3 OMIM:267430 UMLS:C5681536 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97369 Renal tubular dysgenesis of genetic origin Etiological subtype ORPHA:97369 ICD-10:Q63.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB30.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:267430 E (Exact mapping: the two concepts are equivalent) UMLS:C5681536 E (Exact mapping: the two concepts are equivalent) AOS Aplasia cutis congenita with distal limb anomalies Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb anomalies Congenital scalp defects with distal limb reduction anomalies A rare multiple congenital anomalies/dysmorphic syndrome characterized by the combination of congenital distal limb reduction and scalp defects, often accompanied by skull ossification defects. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MeSH:C538225 MedDRA:10079369 OMIM:100300 OMIM:614219 OMIM:614814 OMIM:615297 OMIM:616028 OMIM:616589 UMLS:C0265268 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 398.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=974 Adams-Oliver syndrome ORPHA:974 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538225 E (Exact mapping: the two concepts are equivalent) MedDRA:10079369 E (Exact mapping: the two concepts are equivalent) OMIM:100300 E (Exact mapping: the two concepts are equivalent) OMIM:614219 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614814 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615297 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616028 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616589 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265268 E (Exact mapping: the two concepts are equivalent) Isomerism of right atrial appendage Ivemark syndrome RAI A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. Orphanet ICD-10:Q20.6 ICD-11:LA8Y MedDRA:10068335 OMIM:208530 UMLS:C3178806 Autosomal recessive Neonatal France AND has_birth_prevalence_average_value : 16.67 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97548 Right sided atrial isomerism ORPHA:97548 ICD-10:Q20.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10068335 E (Exact mapping: the two concepts are equivalent) OMIM:208530 E (Exact mapping: the two concepts are equivalent) UMLS:C3178806 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Idiopathic steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome without renal biopsy ORPHA:97552 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy ORPHA:97555 This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Genetic nephrotic syndrome Congenital and infantile nephrotic syndrome ORPHA:97556 NON RARE IN EUROPE: Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:N04.1 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis ORPHA:97557 ICD-10:N04.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Idiopathic membranous glomerulonephritis Primary membranous nephropathy A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome. Orphanet ICD-10:N04.2 OMIM:614692 UMLS:C0086445 Adult Europe AND has_annual_incidence_average_value : 0.9194 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.8103 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97560 Primary membranous glomerulonephritis ORPHA:97560 ICD-10:N04.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:614692 E (Exact mapping: the two concepts are equivalent) UMLS:C0086445 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Benign familial hematuria ORPHA:97562 Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody A form of pauci-immune glomerulonephritis characterized by a rapidly progressive glomerulonephritis in association with the presence of circulating antineutrophilic cytoplasmic antibodies (ANCA), mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO). Patients usually present with urinary abnormalities and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. Orphanet ICD-10:N05.7 ICD-11:MF84 UMLS:C5680254 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97563 Pauci-immune glomerulonephritis with ANCA Clinical subtype ORPHA:97563 ICD-10:N05.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF84 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680254 E (Exact mapping: the two concepts are equivalent) Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody A form of pauci-immune glomerulonephritis characterized by rapidly progressive glomerulonephritis and the absence of antineutrophilic cytoplasmic antibodies (ANCA). In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease, have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. The prognosis is generally poorer. Orphanet ICD-10:N05.7 ICD-11:MF84 UMLS:C5680253 Not applicable Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97564 Pauci-immune glomerulonephritis without ANCA Clinical subtype ORPHA:97564 ICD-10:N05.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:MF84 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680253 E (Exact mapping: the two concepts are equivalent) Congo red-negative amyloidosis-like glomerulopathy Non-amyloid fibrillary glomerulonephritis Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases. Orphanet ICD-10:N03.6 UMLS:C4273674 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97566 Non-amyloid fibrillary glomerulopathy ORPHA:97566 ICD-10:N03.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4273674 E (Exact mapping: the two concepts are equivalent) Immunotactoid glomerulonephritis Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases. Orphanet ICD-10:N03.6 ICD-11:5D00.Y MedDRA:10067871 UMLS:C2242534 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97567 Immunotactoid glomerulopathy ORPHA:97567 ICD-10:N03.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10067871 E (Exact mapping: the two concepts are equivalent) UMLS:C2242534 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Glomerular disease OBSOLETE: Unclassified glomerulonephritis ORPHA:97569 Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms). Orphanet ICD-10:E20.1 ICD-11:5A50.1 MeSH:D011547 MedDRA:10037126 UMLS:C0033806 Autosomal dominant Not applicable All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.67 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.34 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97593 Pseudohypoparathyroidism Category ORPHA:97593 ICD-10:E20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A50.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D011547 E (Exact mapping: the two concepts are equivalent) MedDRA:10037126 E (Exact mapping: the two concepts are equivalent) UMLS:C0033806 E (Exact mapping: the two concepts are equivalent) Congenital renovascular hypoplasia A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria. Orphanet ICD-10:Q27.1 ICD-11:LA90.40 UMLS:C0495523 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97598 Congenital renal artery stenosis ORPHA:97598 ICD-10:Q27.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA90.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0495523 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cause of hypertension OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis ORPHA:97599 2,8-dihydroxyadenine urolithiasis APRT deficiency A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. Orphanet ICD-10:E79.8 ICD-11:5C55.0Y MeSH:C538228 MedDRA:10072609 OMIM:614723 UMLS:C0268120 Autosomal recessive Adolescent Adult Childhood Elderly Infancy Europe AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=976 Adenine phosphoribosyltransferase deficiency ORPHA:976 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C55.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538228 E (Exact mapping: the two concepts are equivalent) MedDRA:10072609 E (Exact mapping: the two concepts are equivalent) OMIM:614723 E (Exact mapping: the two concepts are equivalent) UMLS:C0268120 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency ORPHA:97668 UPD(13)mat Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.0 UMLS:C4722325 Adult Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97678 Maternal uniparental disomy of chromosome 13 syndrome ORPHA:97678 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4722325 E (Exact mapping: the two concepts are equivalent) Del(17)(q11) Monosomy 17q11 NF1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Orphanet ICD-10:Q85.0 ICD-11:LD44.H0 MeSH:C563524 OMIM:613675 UMLS:C5401456 Not applicable Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 170.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype ORPHA:97685 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.H0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563524 E (Exact mapping: the two concepts are equivalent) OMIM:613675 E (Exact mapping: the two concepts are equivalent) UMLS:C5401456 E (Exact mapping: the two concepts are equivalent) An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:E27.4 ICD-11:5A74.Y MeSH:C538051 OMIM:300270 UMLS:C1846044 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=977 Adrenomyodystrophy ORPHA:977 ICD-10:E27.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A74.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538051 E (Exact mapping: the two concepts are equivalent) OMIM:300270 E (Exact mapping: the two concepts are equivalent) UMLS:C1846044 E (Exact mapping: the two concepts are equivalent) Acro-dermato-ungual-lacrimal-tooth syndrome Pigment anomaly-ectrodactyly-hypodontia syndrome A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Orphanet ICD-10:Q87.2 ICD-11:LD27.0Y MeSH:C538052 OMIM:103285 UMLS:C1863204 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=978 ADULT syndrome ORPHA:978 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538052 E (Exact mapping: the two concepts are equivalent) OMIM:103285 E (Exact mapping: the two concepts are equivalent) UMLS:C1863204 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha OBSOLETE: Peripheral resistance to thyroid hormones ORPHA:97927 UMLS:C5681552 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97929 Rare cardiac disease Category Head of classification ORPHA:97929 UMLS:C5681552 E (Exact mapping: the two concepts are equivalent) UMLS:C5681551 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97935 Rare gastroenterologic disease Category Head of classification ORPHA:97935 UMLS:C5681551 E (Exact mapping: the two concepts are equivalent) UMLS:C5681555 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97944 Gastroduodenal malformation Category ORPHA:97944 UMLS:C5681555 E (Exact mapping: the two concepts are equivalent) UMLS:C5681554 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97945 Intestinal malformation Category ORPHA:97945 UMLS:C5681554 E (Exact mapping: the two concepts are equivalent) UMLS:C5681553 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97955 Rare respiratory disease Category Head of classification ORPHA:97955 UMLS:C5681553 E (Exact mapping: the two concepts are equivalent) UMLS:C5681559 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97957 Respiratory or thoracic malformation Category ORPHA:97957 UMLS:C5681559 E (Exact mapping: the two concepts are equivalent) UMLS:C5681557 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97962 Rare surgical thoracic disease Category Head of classification ORPHA:97962 UMLS:C5681557 E (Exact mapping: the two concepts are equivalent) UMLS:C5681558 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97965 Rare surgical cardiac disease Category Head of classification ORPHA:97965 UMLS:C5681558 E (Exact mapping: the two concepts are equivalent) UMLS:C5681556 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97966 Rare ophthalmic disorder Category Head of classification ORPHA:97966 UMLS:C5681556 E (Exact mapping: the two concepts are equivalent) UMLS:C5681540 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97978 Rare endocrine disease Category Head of classification ORPHA:97978 UMLS:C5681540 E (Exact mapping: the two concepts are equivalent) UMLS:C5681542 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=97992 Rare hematologic disease Category Head of classification ORPHA:97992 UMLS:C5681542 E (Exact mapping: the two concepts are equivalent) ARSACS Autosomal recessive spastic ataxia type 6 SPAX6 A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MeSH:C536787 OMIM:270550 UMLS:C1849140 Autosomal recessive Adolescent Adult Childhood Infancy Specific population AND has_birth_prevalence_average_value : 51.76 AND has_birth_prevalence_range : 6-9 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay ORPHA:98 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536787 E (Exact mapping: the two concepts are equivalent) OMIM:270550 E (Exact mapping: the two concepts are equivalent) UMLS:C1849140 E (Exact mapping: the two concepts are equivalent) Aplasia of pulmonary artery UAPA Unilateral Pulmonary Artery Absence Unilateral pulmonary artery agenesis A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension. Orphanet ICD-10:Q25.7 ICD-11:LA8B.1 UMLS:C0265905 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=980 Absence of the pulmonary artery ORPHA:980 ICD-10:Q25.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8B.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265905 E (Exact mapping: the two concepts are equivalent) UMLS:C5681541 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98004 Rare immune disease Category Head of classification ORPHA:98004 UMLS:C5681541 E (Exact mapping: the two concepts are equivalent) Rare nervous system disease UMLS:C5680252 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98006 Rare neurologic disease Category Head of classification ORPHA:98006 UMLS:C5680252 E (Exact mapping: the two concepts are equivalent) UMLS:C0597039 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98010 Infectious disease of the nervous system Category ORPHA:98010 UMLS:C0597039 E (Exact mapping: the two concepts are equivalent) UMLS:C5681547 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98022 Rare headache Category ORPHA:98022 UMLS:C5681547 E (Exact mapping: the two concepts are equivalent) UMLS:C5681546 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98023 Rare systemic or rheumatologic disease Category Head of classification ORPHA:98023 UMLS:C5681546 E (Exact mapping: the two concepts are equivalent) UMLS:C5681549 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98026 Rare odontologic disease Category Head of classification ORPHA:98026 UMLS:C5681549 E (Exact mapping: the two concepts are equivalent) UMLS:C5681548 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98027 Rare disease with odontological manifestation Category ORPHA:98027 UMLS:C5681548 E (Exact mapping: the two concepts are equivalent) UMLS:C5681550 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98028 Rare circulatory system disease Category Head of classification ORPHA:98028 UMLS:C5681550 E (Exact mapping: the two concepts are equivalent) UMLS:C5681544 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98033 Rare neurologic disease with psychiatric involvement Category ORPHA:98033 UMLS:C5681544 E (Exact mapping: the two concepts are equivalent) UMLS:C5681545 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98036 Rare otorhinolaryngologic disease Category Head of classification ORPHA:98036 UMLS:C5681545 E (Exact mapping: the two concepts are equivalent) UMLS:C5681508 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98038 Cranial malformation Category ORPHA:98038 UMLS:C5681508 E (Exact mapping: the two concepts are equivalent) UMLS:C5681507 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98039 Digestive tract malformation Category ORPHA:98039 UMLS:C5681507 E (Exact mapping: the two concepts are equivalent) UMLS:C5681509 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98041 Visceral malformation of the liver, biliary tract, pancreas or spleen Category ORPHA:98041 UMLS:C5681509 E (Exact mapping: the two concepts are equivalent) UMLS:C5681505 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98043 Diaphragmatic or abdominal wall malformation Category ORPHA:98043 UMLS:C5681505 E (Exact mapping: the two concepts are equivalent) UMLS:C1839543 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98044 Central nervous system malformation Category ORPHA:98044 UMLS:C1839543 E (Exact mapping: the two concepts are equivalent) UMLS:C5681506 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98045 Respiratory or mediastinal malformation Category ORPHA:98045 UMLS:C5681506 E (Exact mapping: the two concepts are equivalent) UMLS:C5681511 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98047 Rare infertility Category Head of classification ORPHA:98047 UMLS:C5681511 E (Exact mapping: the two concepts are equivalent) UMLS:C5681513 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98048 Rare male infertility Category ORPHA:98048 UMLS:C5681513 E (Exact mapping: the two concepts are equivalent) UMLS:C5681512 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98049 Rare female infertility Category ORPHA:98049 UMLS:C5681512 E (Exact mapping: the two concepts are equivalent) Rare allergy UMLS:C5680222 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98050 Rare allergic disease Category Head of classification ORPHA:98050 UMLS:C5680222 E (Exact mapping: the two concepts are equivalent) Rare respiratory allergy UMLS:C5680223 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98052 Rare allergic respiratory disease Category ORPHA:98052 UMLS:C5680223 E (Exact mapping: the two concepts are equivalent) UMLS:C5681510 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98053 Rare genetic disease Category Head of classification ORPHA:98053 UMLS:C5681510 E (Exact mapping: the two concepts are equivalent) UMLS:C5681503 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98054 Rare genetic cardiac disease Category ORPHA:98054 UMLS:C5681503 E (Exact mapping: the two concepts are equivalent) UMLS:C5681504 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98056 Rare genetic renal disease Category ORPHA:98056 UMLS:C5681504 E (Exact mapping: the two concepts are equivalent) Rare neoplasm UMLS:C5680421 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98057 Rare tumor Category ORPHA:98057 UMLS:C5680421 E (Exact mapping: the two concepts are equivalent) Rare urinary tract cancer Rare urinary tract neoplasm UMLS:C5680215 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98058 Rare urinary tract tumor Category ORPHA:98058 UMLS:C5680215 E (Exact mapping: the two concepts are equivalent) Rare digestive cancer Rare digestive neoplasm UMLS:C5680216 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98059 Rare digestive tumor Category ORPHA:98059 UMLS:C5680216 E (Exact mapping: the two concepts are equivalent) Rare respiratory cancer Rare respiratory neoplasm UMLS:C5680217 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98060 Rare respiratory tumor Category ORPHA:98060 UMLS:C5680217 E (Exact mapping: the two concepts are equivalent) Rare ORL cancer Rare ORL neoplasm Rare ORL tumor UMLS:C5680218 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98061 Rare otorhinolaryngologic tumor Category ORPHA:98061 UMLS:C5680218 E (Exact mapping: the two concepts are equivalent) Rare nervous system neoplasm UMLS:C5680219 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98062 Rare nervous system tumor Category ORPHA:98062 UMLS:C5680219 E (Exact mapping: the two concepts are equivalent) Rare gynaecological cancer Rare gynaecological neoplasm UMLS:C5680220 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98063 Rare gynecological tumor Category ORPHA:98063 UMLS:C5680220 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Rare disease in physical medicine and rehabilitation ORPHA:98064 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal dominant cerebellar ataxia OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly ORPHA:98068 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal dominant cerebellar ataxia OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy ORPHA:98069 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal dominant cerebellar ataxia OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine ORPHA:98070 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal dominant cerebellar ataxia OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation ORPHA:98071 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal dominant cerebellar ataxia OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia ORPHA:98073 UMLS:C5681521 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98074 Gonadal dysgenesis of gynecological interest Category ORPHA:98074 UMLS:C5681521 E (Exact mapping: the two concepts are equivalent) 46,XX DSD induced by androgens excess 46,XX disorder of sex development induced by androgens excess UMLS:C5680227 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98078 46,XX difference of sex development induced by androgens excess Category ORPHA:98078 UMLS:C5680227 E (Exact mapping: the two concepts are equivalent) 46,XY DSD 46,XY disorder of sex development MeSH:D058490 UMLS:C2751824 Denmark AND has_annual_incidence_average_value : 0.06 AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98085 46,XY difference of sex development Category ORPHA:98085 MeSH:D058490 E (Exact mapping: the two concepts are equivalent) UMLS:C2751824 E (Exact mapping: the two concepts are equivalent) 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue UMLS:C5681514 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue Category ORPHA:98086 UMLS:C5681514 E (Exact mapping: the two concepts are equivalent) Syndrome with 46,XY DSD Syndrome with 46,XY disorder of sex development UMLS:C5680224 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98087 Syndrome with 46,XY difference of sex development Category ORPHA:98087 UMLS:C5680224 E (Exact mapping: the two concepts are equivalent) UMLS:C5681519 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98095 Autosomal recessive congenital cerebellar ataxia Category ORPHA:98095 UMLS:C5681519 E (Exact mapping: the two concepts are equivalent) UMLS:C5681517 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98096 Autosomal recessive metabolic cerebellar ataxia Category ORPHA:98096 UMLS:C5681517 E (Exact mapping: the two concepts are equivalent) ICD-10:G11.3 UMLS:C5681518 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect Category ORPHA:98097 ICD-10:G11.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681518 E (Exact mapping: the two concepts are equivalent) UMLS:C5681515 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98098 Autosomal recessive degenerative and progressive cerebellar ataxia Category ORPHA:98098 UMLS:C5681515 E (Exact mapping: the two concepts are equivalent) UMLS:C5681516 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98099 Autosomal recessive syndromic cerebellar ataxia Category ORPHA:98099 UMLS:C5681516 E (Exact mapping: the two concepts are equivalent) A rare vascular anomaly characterized by agenesis (complete absence of the carotid canal), aplasia (a remnant of the artery remains) or hypoplastic (incomplete embryonic development) of the internal carotid artery, which can be unilateral or bilateral. Children with the condition are mostly asymptomatic due to the presence of collateral circulation. With increasing age, the risk of cerebrovascular events increases. Patients may present with headache, seizures, or transient ischemic attacks. Cerebral aneurysms may form in the context of the condition. Orphanet ICD-10:Q28.1 ICD-11:LA90.4Y UMLS:C4302907 Not applicable All ages Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=981 Internal carotid absence ORPHA:981 ICD-10:Q28.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4302907 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Pore-loop channelopathy ORPHA:98101 OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect ORPHA:98102 OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect ORPHA:98103 OBSOLETE: Channelopathy due to a transient receptor potential channel defect ORPHA:98104 OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels ORPHA:98105 OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect ORPHA:98106 OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect ORPHA:98107 OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect ORPHA:98108 OBSOLETE: Non-pore-loop channelopathy ORPHA:98109 OBSOLETE: Channelopathy due to an epithelial sodium channel defect ORPHA:98110 OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect ORPHA:98111 OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect ORPHA:98112 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Cystic fibrosis OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly ORPHA:98113 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Best vitelliform macular dystrophy OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly ORPHA:98114 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Thomsen and Becker disease OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly ORPHA:98115 OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly ORPHA:98116 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Dent disease type 1 OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly ORPHA:98117 OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly ORPHA:98118 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Bartter syndrome OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly ORPHA:98119 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Bartter syndrome type 4 OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly ORPHA:98120 OBSOLETE: Cys-loop receptor channelopathy ORPHA:98121 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hereditary hyperekplexia OBSOLETE: Channelopathy due to a neuronal glycine receptor defect ORPHA:98122 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Juvenile myoclonic epilepsy OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect ORPHA:98123 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital myasthenic syndrome OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect ORPHA:98124 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal dominant nocturnal frontal lobe epilepsy OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect ORPHA:98125 UMLS:C5681496 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98127 Autosomal anomaly syndrome Category ORPHA:98127 UMLS:C5681496 E (Exact mapping: the two concepts are equivalent) Autosomal duplication UMLS:C0041107 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98130 Autosomal trisomy syndrome Category ORPHA:98130 UMLS:C0041107 E (Exact mapping: the two concepts are equivalent) UMLS:C5681498 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98131 Total autosomal trisomy syndrome Category ORPHA:98131 UMLS:C5681498 E (Exact mapping: the two concepts are equivalent) Partial autosomal trisomy/tetrasomy UMLS:C5681499 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98132 Partial autosomal duplication/triplication syndrome Category ORPHA:98132 UMLS:C5681499 E (Exact mapping: the two concepts are equivalent) ICD-11:LD43.0 UMLS:C5681502 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98141 Total autosomal monosomy syndrome Category ORPHA:98141 ICD-11:LD43.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681502 E (Exact mapping: the two concepts are equivalent) Partial autosomal monosomy ICD-11:LD44.Y https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98142 Partial autosomal deletion syndrome Category ORPHA:98142 ICD-11:LD44.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681500 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98152 Autosomal uniparental disomy syndrome Category ORPHA:98152 UMLS:C5681500 E (Exact mapping: the two concepts are equivalent) ICD-11:LD45.0 UMLS:C4518512 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98153 Maternal uniparental disomy syndrome Category ORPHA:98153 ICD-11:LD45.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4518512 E (Exact mapping: the two concepts are equivalent) ICD-11:LD45.1 UMLS:C4518513 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98154 Paternal uniparental disomy syndrome Category ORPHA:98154 ICD-11:LD45.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4518513 E (Exact mapping: the two concepts are equivalent) Allosome anomaly MeSH:D012729 UMLS:C0036868 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98155 Sex-chromosome anomaly syndrome Category ORPHA:98155 MeSH:D012729 E (Exact mapping: the two concepts are equivalent) UMLS:C0036868 E (Exact mapping: the two concepts are equivalent) Allosome number anomaly UMLS:C5680212 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98156 Sex-chromosome number anomaly syndrome Category ORPHA:98156 UMLS:C5680212 E (Exact mapping: the two concepts are equivalent) Allosome structural anomaly UMLS:C5680213 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98157 Sex-chromosome structural anomaly syndrome Category ORPHA:98157 UMLS:C5680213 E (Exact mapping: the two concepts are equivalent) ICD-10:Q98.6 ICD-11:LD53 UMLS:C4736190 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98158 Chromosome Y structural anomaly syndrome Category ORPHA:98158 ICD-10:Q98.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD53 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4736190 E (Exact mapping: the two concepts are equivalent) UMLS:C5681501 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98159 Chromosome X structural anomaly syndrome Category ORPHA:98159 UMLS:C5681501 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Other rare diabetes mellitus OBSOLETE: Diabetes associated to exocrine pancreas neoplasia ORPHA:98167 Dysmorphologic diseases with phakomatosis UMLS:C5680230 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98196 Malformation syndrome with hamartosis Category ORPHA:98196 UMLS:C5680230 E (Exact mapping: the two concepts are equivalent) Absent pulmonary valve syndrome Congenital absence of the pulmonary valve PVA Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure. Orphanet UMLS:C0265831 Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=982 Pulmonary valve agenesis Clinical group ORPHA:982 UMLS:C0265831 E (Exact mapping: the two concepts are equivalent) Dystonia-plus syndrome UMLS:C5680244 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98203 Combined dystonia Category ORPHA:98203 UMLS:C5680244 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare movement disorder OBSOLETE: Heredodegenerative disease with dystonia as a major feature ORPHA:98204 EDS A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS. Orphanet ICD-10:Q79.6 ICD-11:LD28.1 MeSH:D004535 MedDRA:10014316 UMLS:C0013720 Autosomal dominant Autosomal recessive X-linked recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98249 Ehlers-Danlos syndrome Clinical group ORPHA:98249 ICD-10:Q79.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD28.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004535 E (Exact mapping: the two concepts are equivalent) MedDRA:10014316 E (Exact mapping: the two concepts are equivalent) UMLS:C0013720 E (Exact mapping: the two concepts are equivalent) MeSH:D000069544 MedDRA:10058805 UMLS:C0596773 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98252 Infectious encephalitis Category ORPHA:98252 MeSH:D000069544 E (Exact mapping: the two concepts are equivalent) MedDRA:10058805 E (Exact mapping: the two concepts are equivalent) UMLS:C0596773 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune encephalitis OBSOLETE: Postinfectious encephalitis ORPHA:98253 UMLS:C5681522 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98255 Chronic encephalitis Category ORPHA:98255 UMLS:C5681522 E (Exact mapping: the two concepts are equivalent) UMLS:C5681524 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98257 Neonatal epilepsy syndrome Category ORPHA:98257 UMLS:C5681524 E (Exact mapping: the two concepts are equivalent) UMLS:C5681523 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98258 Infantile epilepsy syndrome Category ORPHA:98258 UMLS:C5681523 E (Exact mapping: the two concepts are equivalent) UMLS:C5681526 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98259 Childhood-onset epilepsy syndrome Category ORPHA:98259 UMLS:C5681526 E (Exact mapping: the two concepts are equivalent) UMLS:C5681525 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98260 Adolescent-onset epilepsy syndrome Category ORPHA:98260 UMLS:C5681525 E (Exact mapping: the two concepts are equivalent) PME Progressive myoclonus epilepsy ICD-11:8A61.41 MeSH:D020191 UMLS:C0751778 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98261 Progressive myoclonic epilepsy Clinical group ORPHA:98261 ICD-11:8A61.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020191 E (Exact mapping: the two concepts are equivalent) UMLS:C0751778 E (Exact mapping: the two concepts are equivalent) Monogenic obesity due to a leptin-melanocortin pathway anomaly A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. Orphanet ICD-10:E66.8 ICD-11:5B81.Y UMLS:C5680229 Not applicable Childhood Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98267 Genetic non-syndromic obesity ORPHA:98267 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B81.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680229 E (Exact mapping: the two concepts are equivalent) MPD MPN Myeloproliferative disorder MeSH:D009196 MedDRA:10028576 UMLS:C0027022 All ages Europe AND has_annual_incidence_average_value : 3.07 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98274 Myeloproliferative neoplasm Clinical group ORPHA:98274 MeSH:D009196 E (Exact mapping: the two concepts are equivalent) MedDRA:10028576 E (Exact mapping: the two concepts are equivalent) UMLS:C0027022 E (Exact mapping: the two concepts are equivalent) MeSH:D054437 UMLS:C1301355 Europe AND has_annual_incidence_average_value : 0.29 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98275 Myelodysplastic/myeloproliferative disease Clinical group ORPHA:98275 MeSH:D054437 E (Exact mapping: the two concepts are equivalent) UMLS:C1301355 E (Exact mapping: the two concepts are equivalent) AML with recurrent genetic anomaly ICD-11:2A60.0 OMIM:601626 UMLS:C5680228 Europe AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98277 Acute myeloid leukemia with recurrent genetic anomaly Category ORPHA:98277 ICD-11:2A60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680228 E (Exact mapping: the two concepts are equivalent) MeSH:D054219 MedDRA:10035227 UMLS:C1959632 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98282 Plasma cell tumor Category ORPHA:98282 MeSH:D054219 E (Exact mapping: the two concepts are equivalent) MedDRA:10035227 E (Exact mapping: the two concepts are equivalent) UMLS:C1959632 E (Exact mapping: the two concepts are equivalent) UMLS:C1334030 Europe AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98287 Histiocytic and dendritic cell tumor Category ORPHA:98287 UMLS:C1334030 E (Exact mapping: the two concepts are equivalent) UMLS:C5681531 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98288 Macrophage or histiocytic tumor Category ORPHA:98288 UMLS:C5681531 E (Exact mapping: the two concepts are equivalent) ICD-10:C96.4 UMLS:C5681852 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98289 Dendritic cell tumor Category ORPHA:98289 ICD-10:C96.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681852 E (Exact mapping: the two concepts are equivalent) ICD-11:2B32 UMLS:C5681530 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98290 Immunodeficiency-associated lymphoproliferative disease Category ORPHA:98290 ICD-11:2B32 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681530 E (Exact mapping: the two concepts are equivalent) UMLS:C5681532 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98291 Lymphoproliferative disease associated with primary immune disease Category ORPHA:98291 UMLS:C5681532 E (Exact mapping: the two concepts are equivalent) ICD-11:2A21 MeSH:D008415 MedDRA:10026891 OMIM:154800 UMLS:C0024899 All ages Denmark AND has_point_prevalence_average_value : 9.59 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98292 Mastocytosis Category ORPHA:98292 ICD-11:2A21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008415 E (Exact mapping: the two concepts are equivalent) MedDRA:10026891 E (Exact mapping: the two concepts are equivalent) OMIM:154800 E (Exact mapping: the two concepts are equivalent) UMLS:C0024899 E (Exact mapping: the two concepts are equivalent) Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. Orphanet ICD-11:2B30 MeSH:D006689 MedDRA:10020206 UMLS:C0019829 Multigenic/multifactorial Adolescent Adult Childhood Elderly Infancy China AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 2.4 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 46.9 AND has_lifetime_prevalence_range : 1-5 / 10 000 Japan AND has_annual_incidence_average_value : 0.25 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 2.8 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98293 Hodgkin lymphoma Clinical group ORPHA:98293 ICD-11:2B30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006689 E (Exact mapping: the two concepts are equivalent) MedDRA:10020206 E (Exact mapping: the two concepts are equivalent) UMLS:C0019829 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Ichthyosis OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly ORPHA:98296 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Ichthyosis OBSOLETE: Ichthyosis associated with a protein catabolism anomaly ORPHA:98297 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Ichthyosis OBSOLETE: Ichthyosis associated with a peroxisomal disease ORPHA:98298 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Ichthyosis OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly ORPHA:98299 ETRS Embryonic testicular regression syndrome TRS Vanishing testes syndrome Vanishing testis syndrome XY gonadal agenesis syndrome Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development. Orphanet ICD-10:Q55.0 ICD-11:LD2A.Y OMIM:273250 UMLS:C0266427 Autosomal recessive Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=983 Testicular regression syndrome ORPHA:983 ICD-10:Q55.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD2A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:273250 E (Exact mapping: the two concepts are equivalent) UMLS:C0266427 E (Exact mapping: the two concepts are equivalent) MeSH:D054988 UMLS:C2350236 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98300 Idiopathic interstitial pneumonia Clinical group ORPHA:98300 MeSH:D054988 E (Exact mapping: the two concepts are equivalent) UMLS:C2350236 E (Exact mapping: the two concepts are equivalent) MeSH:D000083083 UMLS:C5392094 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98301 Laminopathy Category ORPHA:98301 MeSH:D000083083 E (Exact mapping: the two concepts are equivalent) UMLS:C5392094 E (Exact mapping: the two concepts are equivalent) ICD-11:LD27.6 UMLS:C4511302 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98305 Genetic lipodystrophy Category ORPHA:98305 ICD-11:LD27.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4511302 E (Exact mapping: the two concepts are equivalent) FPLD A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. Orphanet MeSH:D052496 MedDRA:10087377 UMLS:C0271694 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98306 Familial partial lipodystrophy Clinical group ORPHA:98306 MeSH:D052496 E (Exact mapping: the two concepts are equivalent) MedDRA:10087377 E (Exact mapping: the two concepts are equivalent) UMLS:C0271694 E (Exact mapping: the two concepts are equivalent) MedDRA:10049287 UMLS:C0877192 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98307 Acquired lipodystrophy Category ORPHA:98307 MedDRA:10049287 E (Exact mapping: the two concepts are equivalent) UMLS:C0877192 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization ORPHA:98309 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder ORPHA:98310 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Prolactinoma OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia ORPHA:98311 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility due to testicular endocrine disorder OBSOLETE: Male infertility with impaired virilization due to a testicular disorder ORPHA:98312 Male infertility due to testicular dysgenesis UMLS:C5680350 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98313 Male infertility due to gonadal dysgenesis Category ORPHA:98313 UMLS:C5680350 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect ORPHA:98314 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a viral orchitis ORPHA:98315 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma ORPHA:98316 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related ORPHA:98317 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin ORPHA:98318 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity ORPHA:98319 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease ORPHA:98320 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease ORPHA:98321 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure ORPHA:98322 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease ORPHA:98323 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness ORPHA:98324 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis ORPHA:98325 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder ORPHA:98326 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease ORPHA:98327 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization ORPHA:98328 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect ORPHA:98329 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility due to testicular endocrine disorder OBSOLETE: Male infertility with normal virilization due to androgen administration ORPHA:98330 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility due to testicular endocrine disorder OBSOLETE: Male infertility with normal virilization due to a testicular defect ORPHA:98331 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Male infertility due to gonadal dysgenesis or sperm disorder OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect ORPHA:98332 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Male infertility due to gonadal dysgenesis or sperm disorder OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism ORPHA:98333 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Male infertility due to gonadal dysgenesis or sperm disorder OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele ORPHA:98334 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect ORPHA:98335 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection ORPHA:98336 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation ORPHA:98337 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug ORPHA:98338 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin ORPHA:98339 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity ORPHA:98340 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to a systemic disease ORPHA:98341 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare male infertility OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury ORPHA:98342 Male infertility due to impaired sperm transport UMLS:C5680348 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98343 Male infertility due to obstructive azoospermia Category ORPHA:98343 UMLS:C5680348 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare male infertility OBSOLETE: Rare idiopathic male infertility ORPHA:98345 Autosomal dominant isolated diffuse palmoplantar hyperkeratosis UMLS:C5680349 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98349 Autosomal dominant isolated diffuse palmoplantar keratoderma Category ORPHA:98349 UMLS:C5680349 E (Exact mapping: the two concepts are equivalent) Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature UMLS:C5680344 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Category ORPHA:98352 UMLS:C5680344 E (Exact mapping: the two concepts are equivalent) Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature UMLS:C5680345 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Category ORPHA:98353 UMLS:C5680345 E (Exact mapping: the two concepts are equivalent) Autosomal recessive isolated diffuse palmoplantar hyperkeratosis UMLS:C5680346 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98356 Autosomal recessive isolated diffuse palmoplantar keratoderma Category ORPHA:98356 UMLS:C5680346 E (Exact mapping: the two concepts are equivalent) Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature UMLS:C5680347 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature Category ORPHA:98357 UMLS:C5680347 E (Exact mapping: the two concepts are equivalent) UMLS:C5681718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98360 Constitutional anemia due to iron metabolism disorder Category ORPHA:98360 UMLS:C5681718 E (Exact mapping: the two concepts are equivalent) ICD-10:D64.0 ICD-11:3A72.0 UMLS:C0221018 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98362 Constitutional sideroblastic anemia Category ORPHA:98362 ICD-10:D64.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A72.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0221018 E (Exact mapping: the two concepts are equivalent) UMLS:C5681717 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98363 Rare hemolytic anemia Category ORPHA:98363 UMLS:C5681717 E (Exact mapping: the two concepts are equivalent) UMLS:C5681716 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly Category ORPHA:98364 UMLS:C5681716 E (Exact mapping: the two concepts are equivalent) Hereditary stomatocytic disease ICD-11:3A10.Y MedDRA:10053589 UMLS:C1262483 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98365 Hereditary stomatocytosis Clinical group ORPHA:98365 ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10053589 E (Exact mapping: the two concepts are equivalent) UMLS:C1262483 E (Exact mapping: the two concepts are equivalent) Constitutional hemolytic anemia due to acanthocytic disorder ICD-11:3A10.Y UMLS:C0687751 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98366 Constitutional hemolytic anemia due to acanthocytosis Category ORPHA:98366 ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0687751 E (Exact mapping: the two concepts are equivalent) UMLS:C5681715 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98369 Rare constitutional hemolytic anemia due to an enzyme disorder Category ORPHA:98369 UMLS:C5681715 E (Exact mapping: the two concepts are equivalent) ICD-11:3A10.0 UMLS:C5681714 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies Category ORPHA:98370 ICD-11:3A10.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681714 E (Exact mapping: the two concepts are equivalent) ICD-10:D55.2 ICD-11:3A10.Y UMLS:C5681713 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98372 Hemolytic anemia due to a disorder of glycolytic enzymes Category ORPHA:98372 ICD-10:D55.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681713 E (Exact mapping: the two concepts are equivalent) Hemolytic anemia due to an erythroenzymopathy ICD-10:D55.3 ICD-11:3A10.Y UMLS:C5680359 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder Category ORPHA:98374 ICD-10:D55.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680359 E (Exact mapping: the two concepts are equivalent) AHA AIHA A rare, autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia. Orphanet ICD-11:3A20 MeSH:D000744 MedDRA:10002046 UMLS:C0002880 Multigenic/multifactorial All ages Denmark AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 2.02 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 2.02 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98375 Autoimmune hemolytic anemia Clinical group ORPHA:98375 ICD-11:3A20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000744 E (Exact mapping: the two concepts are equivalent) MedDRA:10002046 E (Exact mapping: the two concepts are equivalent) UMLS:C0002880 E (Exact mapping: the two concepts are equivalent) UMLS:C5681709 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Category ORPHA:98396 UMLS:C5681709 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension. Orphanet ICD-10:Q33.3 ICD-11:LA75.1 MeSH:C562992 MedDRA:10037322 UMLS:C0265780 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=984 Pulmonary agenesis ORPHA:984 ICD-10:Q33.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA75.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562992 E (Exact mapping: the two concepts are equivalent) MedDRA:10037322 E (Exact mapping: the two concepts are equivalent) UMLS:C0265780 E (Exact mapping: the two concepts are equivalent) UMLS:C5681711 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98408 Constitutional megaloblastic anemia due to folate metabolism disorder Category ORPHA:98408 UMLS:C5681711 E (Exact mapping: the two concepts are equivalent) ICD-11:3A03.Y UMLS:C5681710 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia Category ORPHA:98415 ICD-11:3A03.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681710 E (Exact mapping: the two concepts are equivalent) Primary autoimmune red cell aplasia MedDRA:10038184 UMLS:C0034902 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98421 Primary acquired red cell aplasia Clinical group ORPHA:98421 MedDRA:10038184 E (Exact mapping: the two concepts are equivalent) UMLS:C0034902 E (Exact mapping: the two concepts are equivalent) MeSH:D011086 MedDRA:10036051 UMLS:C0032461 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98427 Polycythemia Clinical group ORPHA:98427 MeSH:D011086 E (Exact mapping: the two concepts are equivalent) MedDRA:10036051 E (Exact mapping: the two concepts are equivalent) UMLS:C0032461 E (Exact mapping: the two concepts are equivalent) Secondary erythrocytosis Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms). Orphanet ICD-10:D75.1 MedDRA:10036062 UMLS:C1318533 Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98428 Secondary polycythemia Category ORPHA:98428 ICD-10:D75.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10036062 E (Exact mapping: the two concepts are equivalent) UMLS:C1318533 E (Exact mapping: the two concepts are equivalent) UMLS:C5681721 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98429 Rare coagulation disorder Category ORPHA:98429 UMLS:C5681721 E (Exact mapping: the two concepts are equivalent) Hereditary combined deficiency of factors II, VII, IX and X Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Orphanet ICD-10:D68.2 ICD-11:3B14.2 OMIM:277450 OMIM:607473 UMLS:C4510617 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98434 Hereditary combined deficiency of vitamin K-dependent clotting factors ORPHA:98434 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:277450 E (Exact mapping: the two concepts are equivalent) OMIM:607473 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4510617 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Protease inhibitor anomaly ORPHA:98435 OBSOLETE: SPD This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare hemorrhagic disorder due to a constitutional thrombocytopenia OBSOLETE: Platelet storage pool disease ORPHA:98454 ICD-11:3B62.00 UMLS:C5681720 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98455 Alpha granule disease Category ORPHA:98455 ICD-11:3B62.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681720 E (Exact mapping: the two concepts are equivalent) Delta granule disease ICD-11:3B62.3 UMLS:C5680362 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98456 Dense granule disease Category ORPHA:98456 ICD-11:3B62.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680362 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndromic intellectual disability OBSOLETE: X-linked syndromic intellectual disability ORPHA:98464 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital muscular dystrophy OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly ORPHA:98468 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital muscular dystrophy OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly ORPHA:98469 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital muscular dystrophy OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly ORPHA:98470 MeSH:D009135 MedDRA:10028641 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98472 Skeletal muscle disease Category ORPHA:98472 MeSH:D009135 E (Exact mapping: the two concepts are equivalent) MedDRA:10028641 E (Exact mapping: the two concepts are equivalent) ICD-10:G71.0 ICD-11:8C70 MeSH:D009136 MedDRA:10028356 UMLS:C0026850 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98473 Muscular dystrophy Category ORPHA:98473 ICD-10:G71.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8C70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D009136 E (Exact mapping: the two concepts are equivalent) MedDRA:10028356 E (Exact mapping: the two concepts are equivalent) UMLS:C0026850 E (Exact mapping: the two concepts are equivalent) IMM Idiopathic inflammatory myositis ICD-11:4A41 MedDRA:10085970 UMLS:C0751356 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98482 Idiopathic inflammatory myopathy Category ORPHA:98482 ICD-11:4A41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10085970 E (Exact mapping: the two concepts are equivalent) UMLS:C0751356 E (Exact mapping: the two concepts are equivalent) MedDRA:10068836 UMLS:C0270984 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98486 Metabolic myopathy Category ORPHA:98486 MedDRA:10068836 E (Exact mapping: the two concepts are equivalent) UMLS:C0270984 E (Exact mapping: the two concepts are equivalent) MeSH:D020511 UMLS:C0751950 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98491 Neuromuscular junction disease Category ORPHA:98491 MeSH:D020511 E (Exact mapping: the two concepts are equivalent) UMLS:C0751950 E (Exact mapping: the two concepts are equivalent) UMLS:C5681732 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98494 Acquired neuromuscular junction disease Category ORPHA:98494 UMLS:C5681732 E (Exact mapping: the two concepts are equivalent) UMLS:C5681843 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98495 Genetic neuromuscular junction disease Category ORPHA:98495 UMLS:C5681843 E (Exact mapping: the two concepts are equivalent) UMLS:C5681734 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98496 Rare peripheral neuropathy Category ORPHA:98496 UMLS:C5681734 E (Exact mapping: the two concepts are equivalent) UMLS:C5681733 Worldwide AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98497 Genetic peripheral neuropathy Category ORPHA:98497 UMLS:C5681733 E (Exact mapping: the two concepts are equivalent) Anterior horn cell disease ICD-10:G12.2 ICD-11:8B60 MeSH:D016472 MedDRA:10028003 UMLS:C0085084 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98503 Motor neuron disease Category ORPHA:98503 ICD-10:G12.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8B60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D016472 E (Exact mapping: the two concepts are equivalent) MedDRA:10028003 E (Exact mapping: the two concepts are equivalent) UMLS:C0085084 E (Exact mapping: the two concepts are equivalent) Genetic anterior horn cell disease UMLS:C5680368 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98505 Genetic motor neuron disease Category ORPHA:98505 UMLS:C5680368 E (Exact mapping: the two concepts are equivalent) Acquired anterior horn cell disease UMLS:C5680367 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98506 Acquired motor neuron disease Category ORPHA:98506 UMLS:C5680367 E (Exact mapping: the two concepts are equivalent) UMLS:C5681737 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98514 Malformation of the cerebellar vermis Category ORPHA:98514 UMLS:C5681737 E (Exact mapping: the two concepts are equivalent) UMLS:C5681736 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98516 Malformation of the cerebellar hemispheres Category ORPHA:98516 UMLS:C5681736 E (Exact mapping: the two concepts are equivalent) UMLS:C5681735 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98518 Cranial nerve and nuclear aplasia Category ORPHA:98518 UMLS:C5681735 E (Exact mapping: the two concepts are equivalent) UMLS:C1850349 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98519 Posterior fossa malformation Category ORPHA:98519 UMLS:C1850349 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Central nervous system cystic malformation OBSOLETE: Cystic malformation of the posterior fossa ORPHA:98520 PCH Pontoneocerebellar atrophy Pontoneocerebellar hypoplasia A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation. Orphanet ICD-11:LD20.01 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98523 Non-syndromic pontocerebellar hypoplasia Clinical group ORPHA:98523 ICD-11:LD20.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OBSOLETE: Tauopathy ORPHA:98527 OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration ORPHA:98528 OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa ORPHA:98529 OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa ORPHA:98530 OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa ORPHA:98531 OBSOLETE: Tauopathy with a major tau at 60 kDa ORPHA:98532 UMLS:C5681723 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98534 Neurodegenerative disease with dementia Category ORPHA:98534 UMLS:C5681723 E (Exact mapping: the two concepts are equivalent) UMLS:C5681727 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98535 Frontotemporal degeneration with dementia Clinical group ORPHA:98535 UMLS:C5681727 E (Exact mapping: the two concepts are equivalent) UMLS:C5681728 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98538 Ataxia with dementia Category ORPHA:98538 UMLS:C5681728 E (Exact mapping: the two concepts are equivalent) UMLS:C5681725 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98539 Early-onset ataxia with dementia Category ORPHA:98539 UMLS:C5681725 E (Exact mapping: the two concepts are equivalent) UMLS:C5681724 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98540 Late-onset ataxia with dementia Category ORPHA:98540 UMLS:C5681724 E (Exact mapping: the two concepts are equivalent) UMLS:C5681726 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98542 Infectious disease with dementia Category ORPHA:98542 UMLS:C5681726 E (Exact mapping: the two concepts are equivalent) UMLS:C5681731 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98543 Metabolic disease with dementia Category ORPHA:98543 UMLS:C5681731 E (Exact mapping: the two concepts are equivalent) UMLS:C5681730 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98544 Cerebral lipidosis with dementia Category ORPHA:98544 UMLS:C5681730 E (Exact mapping: the two concepts are equivalent) UMLS:C5681729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98549 Rare cerebrovascular dementia Category ORPHA:98549 UMLS:C5681729 E (Exact mapping: the two concepts are equivalent) OMIM:120200 OMIM:216820 UMLS:C5681657 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98553 Developmental defect of the eye Category ORPHA:98553 OMIM:120200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:216820 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681657 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Developmental defect of the eye OBSOLETE: Major induction processes eye anomaly ORPHA:98554 Anophthalmia-microphthalmia syndrome UMLS:C5680330 Autosomal dominant Autosomal recessive X-linked recessive Antenatal Neonatal Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 Austria AND has_point_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_point_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 13.1 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 36.4 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 7.3 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 17.7 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_point_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_point_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 25.9 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_point_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 11.1 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 14.4 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_point_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 12.3 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_point_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 12.9 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 3.9 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98555 Microphthalmia-anophthalmia-coloboma Category ORPHA:98555 UMLS:C5680330 E (Exact mapping: the two concepts are equivalent) UMLS:C5681658 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98557 Syndromic aniridia Category ORPHA:98557 UMLS:C5681658 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Developmental defect of the eye OBSOLETE: Rare eye disease due to a differentiation anomaly ORPHA:98558 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder of the ocular adnexa OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease ORPHA:98559 UMLS:C5681654 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98560 Rare palpebral disorder Category ORPHA:98560 UMLS:C5681654 E (Exact mapping: the two concepts are equivalent) UMLS:C0266572 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98561 Congenital malformation of the eyelid Category ORPHA:98561 UMLS:C0266572 E (Exact mapping: the two concepts are equivalent) ICD-11:LA14.01 MedDRA:10011497 UMLS:C0311249 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98562 Cryptophthalmia Category ORPHA:98562 ICD-11:LA14.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10011497 E (Exact mapping: the two concepts are equivalent) UMLS:C0311249 E (Exact mapping: the two concepts are equivalent) UMLS:C5681656 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98563 Microblepharon-ablephara syndrome Clinical group ORPHA:98563 UMLS:C5681656 E (Exact mapping: the two concepts are equivalent) UMLS:C5681655 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98564 Eyelid border anomaly Category ORPHA:98564 UMLS:C5681655 E (Exact mapping: the two concepts are equivalent) Syndromic ankyloblepharon UMLS:C5680329 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98565 Syndromic ankyloblepharon filiforme adnatum Category ORPHA:98565 UMLS:C5680329 E (Exact mapping: the two concepts are equivalent) Syndromic palpebral coloboma UMLS:C5680328 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98566 Syndromic eyelid coloboma Category ORPHA:98566 UMLS:C5680328 E (Exact mapping: the two concepts are equivalent) Eyelids malposition disorder https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98567 Rare eyelid malposition disorder Category ORPHA:98567 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with entropion OBSOLETE: Congenital entropion ORPHA:98568 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with entropion OBSOLETE: Secondary entropion ORPHA:98569 ICD-10:Q10.1 ICD-11:LA14.03 UMLS:C0266578 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98570 Congenital ectropion Category ORPHA:98570 ICD-10:Q10.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA14.03 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0266578 E (Exact mapping: the two concepts are equivalent) ICD-10:H02.1 UMLS:C5681652 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98571 Secondary ectropion Category ORPHA:98571 ICD-10:H02.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681652 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare palpebral disorder OBSOLETE: Canthal anomaly ORPHA:98572 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic epicanthus OBSOLETE: Epicanthal fold ORPHA:98573 UMLS:C5681653 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98574 Syndromic epicanthus Category ORPHA:98574 UMLS:C5681653 E (Exact mapping: the two concepts are equivalent) UMLS:C0423113 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98575 Syndromic telecanthus Category ORPHA:98575 UMLS:C0423113 E (Exact mapping: the two concepts are equivalent) Malposition of external canthus UMLS:C5680327 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98576 Syndromic outer canthal malposition Category ORPHA:98576 UMLS:C5680327 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare palpebral disorder OBSOLETE: Kinetic eyelid anomaly ORPHA:98577 MeSH:D001763 UMLS:C5681651 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98578 Rare disorder with ptosis Category ORPHA:98578 MeSH:D001763 E (Exact mapping: the two concepts are equivalent) UMLS:C5681651 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare palpebral disorder OBSOLETE: Congenital upper palpebral retraction ORPHA:98579 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Palpebral tumor ORPHA:98580 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Palpebral epidermal tumor ORPHA:98581 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Benign tumor of palpebral epidermis ORPHA:98582 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Precancerous lesion of palpebral epidermis ORPHA:98583 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Malignant tumor of palpebral epidermis ORPHA:98584 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Palpebral sebaceous gland tumor ORPHA:98585 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Pigmented palpebral tumor ORPHA:98586 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Palpebral lentiginosis ORPHA:98587 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare nevus OBSOLETE: Palpebral nevus ORPHA:98588 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Palpebral malignant melanoma ORPHA:98589 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Palpebral piliary tumor ORPHA:98590 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Mesenchymatous palpebral tumor ORPHA:98591 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Palpebral tumor with a vascular malformation ORPHA:98592 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare eye tumor OBSOLETE: Neurogenic palpebral tumor ORPHA:98593 Rare eyebrow/eyelashes anomaly UMLS:C5680326 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98594 Rare eyebrow/eyelash disorder Category ORPHA:98594 UMLS:C5680326 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with hypertrichosis OBSOLETE: Eyebrow/eyelashes hypertrichosis ORPHA:98595 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eyebrow/eyelash disorder OBSOLETE: Eyebrow hypertrophy ORPHA:98596 OBSOLETE: Eyelashes polytrichia OBSOLETE: Eyelashes trichomegalia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eyebrow/eyelash disorder OBSOLETE: Eyelashes hypertrophy ORPHA:98597 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eyebrow/eyelash disorder OBSOLETE: Congenital absence of the eyebrow/eyelashes ORPHA:98598 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eyebrow/eyelash disorder OBSOLETE: Eyebrow/eyelashes structural anomaly ORPHA:98599 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eyebrow/eyelash disorder OBSOLETE: Eyebrow/eyelashes distichiasis ORPHA:98600 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eyebrow/eyelash disorder OBSOLETE: Eyebrow/eyelashes pigmentation anomaly ORPHA:98601 Rare lacrimal system disease UMLS:C5680324 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98602 Rare disorder of the lacrimal apparatus Category ORPHA:98602 UMLS:C5680324 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder of the lacrimal apparatus OBSOLETE: Secretory apparatus of the lacrimal system anomaly ORPHA:98603 MeSH:C566307 UMLS:C1863199 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98604 Congenital alacrima Category ORPHA:98604 MeSH:C566307 E (Exact mapping: the two concepts are equivalent) UMLS:C1863199 E (Exact mapping: the two concepts are equivalent) Excretory apparatus of the lacrimal system anomaly UMLS:C5680325 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98605 Lacrimal drainage system anomaly Category ORPHA:98605 UMLS:C5680325 E (Exact mapping: the two concepts are equivalent) Urrets-Zavalia syndrome Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. Orphanet ICD-10:Q10.7 OMIM:165600 UMLS:C4273912 Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98606 Syndromic orbital border hypoplasia ORPHA:98606 ICD-10:Q10.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:165600 E (Exact mapping: the two concepts are equivalent) UMLS:C4273912 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder of the lacrimal apparatus OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system ORPHA:98608 EEC syndrome and related syndrome Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders UMLS:C5680323 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98609 EEC syndrome and related disorders Category ORPHA:98609 UMLS:C5680323 E (Exact mapping: the two concepts are equivalent) UMLS:C5681650 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98610 Rare disorder with conjunctival involvement as a major feature Category ORPHA:98610 UMLS:C5681650 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with conjunctival involvement as a major feature OBSOLETE: Conjunctival vascular anomaly ORPHA:98611 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with conjunctival involvement as a major feature OBSOLETE: Conjunctival hemangioma or hemolymphangioma ORPHA:98612 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with conjunctival involvement as a major feature OBSOLETE: Conjunctival telangiectasia ORPHA:98613 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with conjunctival involvement as a major feature OBSOLETE: Conjunctival lymphangiectasia ORPHA:98614 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder with conjunctival involvement as a major feature OBSOLETE: Pigmented conjunctival lesion ORPHA:98615 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Conjunctival tumor ORPHA:98616 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma ORPHA:98617 UMLS:C5681677 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98618 Rare refraction anomaly Category ORPHA:98618 UMLS:C5681677 E (Exact mapping: the two concepts are equivalent) Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. Orphanet ICD-10:H52.1 OMIM:608908 OMIM:614292 OMIM:615431 UMLS:C4751232 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98619 Rare isolated myopia ORPHA:98619 ICD-10:H52.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:608908 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614292 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615431 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4751232 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare refraction anomaly OBSOLETE: Syndromic myopia ORPHA:98620 UMLS:C5681676 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98621 Rare hyperopia and astigmatism Category ORPHA:98621 UMLS:C5681676 E (Exact mapping: the two concepts are equivalent) UMLS:C5681675 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98622 Syndromic hyperopia Category ORPHA:98622 UMLS:C5681675 E (Exact mapping: the two concepts are equivalent) UMLS:C5681674 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98623 Syndromic keratoconus Category ORPHA:98623 UMLS:C5681674 E (Exact mapping: the two concepts are equivalent) Anterior corneal dystrophy The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. Orphanet UMLS:C2315777 Autosomal dominant X-linked recessive All ages United States AND has_point_prevalence_average_value : 13.8 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98625 Superficial corneal dystrophy Category ORPHA:98625 UMLS:C2315777 E (Exact mapping: the two concepts are equivalent) The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. Orphanet UMLS:C0038457 Autosomal dominant Autosomal recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98626 Stromal corneal dystrophy Category ORPHA:98626 UMLS:C0038457 E (Exact mapping: the two concepts are equivalent) Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy. Orphanet UMLS:C2063478 Autosomal dominant Autosomal recessive X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98627 Posterior corneal dystrophy Category ORPHA:98627 UMLS:C2063478 E (Exact mapping: the two concepts are equivalent) UMLS:C5681673 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98628 Syndromic corneal dystrophy Category ORPHA:98628 UMLS:C5681673 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pediatric-onset glaucoma of genetic origin OBSOLETE: Rare glaucoma ORPHA:98629 UMLS:C5681671 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98631 Congenital malformation of the eye with glaucoma as a major feature Category ORPHA:98631 UMLS:C5681671 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pediatric-onset glaucoma of genetic origin OBSOLETE: Glaucoma associated with neural crest cell migration anomaly ORPHA:98632 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Anterior segment developmental anomaly OBSOLETE: Goniodysgenesis ORPHA:98633 UMLS:C5681672 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98634 Anterior segment developmental anomaly without extraocular manifestations Category ORPHA:98634 UMLS:C5681672 E (Exact mapping: the two concepts are equivalent) Corneogoniodysgenesis UMLS:C5680334 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98635 Corneodysgenesis Category ORPHA:98635 UMLS:C5680334 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Anterior segment developmental anomaly OBSOLETE: Corneoiridogoniodysgenesis ORPHA:98636 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Secondary early-onset glaucoma of genetic origin OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly ORPHA:98637 UMLS:C5681670 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98638 Rare disease with glaucoma as a major feature Category ORPHA:98638 UMLS:C5681670 E (Exact mapping: the two concepts are equivalent) UMLS:C5681667 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98639 Rare lens disease Category ORPHA:98639 UMLS:C5681667 E (Exact mapping: the two concepts are equivalent) Rare cataract UMLS:C5680333 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98640 Rare disorder with lens opacification Category ORPHA:98640 UMLS:C5680333 E (Exact mapping: the two concepts are equivalent) UMLS:C5681668 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98641 Syndromic cataract Category ORPHA:98641 UMLS:C5681668 E (Exact mapping: the two concepts are equivalent) UMLS:C5681669 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98642 Chromosomal anomaly with cataract Category ORPHA:98642 UMLS:C5681669 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic cataract OBSOLETE: Systemic disease with cataract ORPHA:98643 UMLS:C5681665 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98644 Metabolic disease with cataract Category ORPHA:98644 UMLS:C5681665 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic cataract OBSOLETE: Cerebral disease with cataract ORPHA:98645 UMLS:C5681666 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98646 Renal disease with cataract Category ORPHA:98646 UMLS:C5681666 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic cataract OBSOLETE: Cardiac disease with cataract ORPHA:98647 UMLS:C5681664 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98648 Musculoskeletal disease with cataract Category ORPHA:98648 UMLS:C5681664 E (Exact mapping: the two concepts are equivalent) UMLS:C5681663 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98649 Dentocutaneous disease with cataract Category ORPHA:98649 UMLS:C5681663 E (Exact mapping: the two concepts are equivalent) UMLS:C5681662 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98650 Craniofacial anomaly with cataract Category ORPHA:98650 UMLS:C5681662 E (Exact mapping: the two concepts are equivalent) UMLS:C5681661 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98652 Lens size anomaly Category ORPHA:98652 UMLS:C5681661 E (Exact mapping: the two concepts are equivalent) UMLS:C5681660 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98653 Lens position anomaly Category ORPHA:98653 UMLS:C5681660 E (Exact mapping: the two concepts are equivalent) UMLS:C0158553 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98655 Lens shape anomaly Category ORPHA:98655 UMLS:C0158553 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare retinal disorder OBSOLETE: Genetic vitreous-retinal disease ORPHA:98657 ICD-10:H53.5 UMLS:C5681659 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98658 Color-vision disease Category ORPHA:98658 ICD-10:H53.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681659 E (Exact mapping: the two concepts are equivalent) Syndromic retinitis pigmentosa UMLS:C5680332 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98661 Syndromic rod-cone dystrophy Category ORPHA:98661 UMLS:C5680332 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited retinal disorder OBSOLETE: Unclassified familial retinal dystrophy ORPHA:98662 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited retinal disorder OBSOLETE: Genetic macular dystrophy ORPHA:98664 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited retinal disorder OBSOLETE: Colobomatous and areolar dystrophy ORPHA:98665 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited retinal disorder OBSOLETE: Unclassified primitive or secondary maculopathy ORPHA:98666 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Familial drusen OBSOLETE: Disease predisposing to age-related macular degeneration ORPHA:98667 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98668 Vitreoretinopathy Category ORPHA:98668 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic vitreoretinopathy OBSOLETE: Congenital vitreoretinal dysplasia ORPHA:98669 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Vitreoretinopathy OBSOLETE: Vitreoretinal degeneration ORPHA:98670 ICD-11:9C40.8 MedDRA:10061323 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98671 Hereditary optic neuropathy Category ORPHA:98671 ICD-11:9C40.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10061323 E (Exact mapping: the two concepts are equivalent) ADOA DOA MeSH:D029241 UMLS:C4551508 Autosomal dominant Childhood Denmark AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 83.0 AND has_point_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98672 Autosomal dominant optic atrophy Clinical group ORPHA:98672 MeSH:D029241 E (Exact mapping: the two concepts are equivalent) UMLS:C4551508 E (Exact mapping: the two concepts are equivalent) Autosomal dominant optic atrophy, Kjer type Kjer optic atrophy Optic atrophy type 1 A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. Orphanet ICD-10:H47.2 ICD-11:9C40.8 OMIM:165500 OMIM:605293 OMIM:610708 OMIM:618977 UMLS:C0338508 Autosomal dominant Adolescent Adult Childhood Denmark AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Specific population AND has_point_prevalence_average_value : 83.33 AND has_point_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 2.86 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98673 Autosomal dominant optic atrophy, classic form ORPHA:98673 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:165500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605293 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610708 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618977 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0338508 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hereditary optic neuropathy OBSOLETE: Autosomal recessive optic atrophy ORPHA:98675 Autosomal recessive non-syndromic optic atrophy A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. Orphanet ICD-10:H47.2 ICD-11:9C40.8 OMIM:258500 OMIM:616289 OMIM:616732 OMIM:617302 UMLS:C5680331 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98676 Autosomal recessive isolated optic atrophy ORPHA:98676 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:258500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616289 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616732 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617302 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680331 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic hereditary optic neuropathy OBSOLETE: Autosomal recessive syndromic optic atrophy ORPHA:98677 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hereditary optic neuropathy OBSOLETE: X-linked recessive optic atrophy ORPHA:98678 UMLS:C5681695 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98681 Rare disorder with strabismus Category ORPHA:98681 UMLS:C5681695 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Essential strabismus ORPHA:98682 Syndrome with a symptomatic strabismus UMLS:C5680339 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98683 Syndromic disorder with strabismus Category ORPHA:98683 UMLS:C5680339 E (Exact mapping: the two concepts are equivalent) UMLS:C5681696 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98684 Craniostenosis with strabismus Category ORPHA:98684 UMLS:C5681696 E (Exact mapping: the two concepts are equivalent) UMLS:C5681697 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98685 Rare oculomotor nerve disorder Category ORPHA:98685 UMLS:C5681697 E (Exact mapping: the two concepts are equivalent) Congenital CNIV palsy Congenital fourth cranial nerve palsy Congenital superior oblique palsy A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia. Orphanet ICD-10:H49.1 ICD-11:9C81.1 UMLS:C5680340 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98686 Congenital trochlear nerve palsy ORPHA:98686 ICD-10:H49.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5680340 E (Exact mapping: the two concepts are equivalent) UMLS:C5681698 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98687 Supranuclear eye movement disorder Category ORPHA:98687 UMLS:C5681698 E (Exact mapping: the two concepts are equivalent) ICD-11:9C82.4 UMLS:C3489733 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98688 Oculomotor apraxia Category ORPHA:98688 ICD-11:9C82.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3489733 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare neuromuscular disorder with ocular motility/alignment anomaly OBSOLETE: Myopathy with eye involvement ORPHA:98689 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Neuromuscular junction disease OBSOLETE: Myasthenic syndrome with eye involvement ORPHA:98690 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Neuro-ophthalmological disease OBSOLETE: Abnormal eye movements ORPHA:98691 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Neuro-ophthalmological disease OBSOLETE: Nervous system anomaly with eye involvement ORPHA:98692 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly ORPHA:98693 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly ORPHA:98694 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Mitochondrial disease OBSOLETE: Mitochondrial disease with eye involvement ORPHA:98695 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare genetic skin disease OBSOLETE: Genodermatosis with ocular features ORPHA:98696 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited ichthyosis syndromic form OBSOLETE: Genetic keratinization disorder associated with ocular features ORPHA:98697 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited ichthyosis syndromic form OBSOLETE: Ichthyosis associated with ocular features ORPHA:98698 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited ichthyosis syndromic form OBSOLETE: Syndromic ichthyosis associated with ocular features ORPHA:98699 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pigmentation anomaly of the skin OBSOLETE: Pigmentation disorder with eye involvement ORPHA:98700 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare skin tumor or hamartoma OBSOLETE: Phakomatosis with eye involvement ORPHA:98701 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder of the visual organs OBSOLETE: Connective tissue disease with eye involvement ORPHA:98702 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eye tumor OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features ORPHA:98703 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Nail-patella syndrome OBSOLETE: Onycho-patellar syndrome with eye involvement ORPHA:98704 ICD-10:E70.3 UMLS:C5681694 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98706 Oculocutaneous or ocular albinism Category ORPHA:98706 ICD-10:E70.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681694 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pigmentation anomaly of the skin OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism ORPHA:98708 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disorder of the visual organs OBSOLETE: Ectodermal malformation syndrome associated with ocular features ORPHA:98709 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare inborn errors of metabolism OBSOLETE: Metabolic disease associated with ocular features ORPHA:98710 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare inborn errors of metabolism OBSOLETE: Metabolic disease with corneal opacity ORPHA:98711 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Metabolic disease with cataract OBSOLETE: Metabolic disease with cataract ORPHA:98712 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare inborn errors of metabolism OBSOLETE: Metabolic disease with pigmentary retinitis ORPHA:98713 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare inborn errors of metabolism OBSOLETE: Metabolic disease with macular cherry-red spot ORPHA:98714 MeSH:D014605 MedDRA:10046851 UMLS:C0042164 Europe AND has_annual_incidence_average_value : 17.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 38.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98715 Uveitis Category ORPHA:98715 MeSH:D014605 E (Exact mapping: the two concepts are equivalent) MedDRA:10046851 E (Exact mapping: the two concepts are equivalent) UMLS:C0042164 E (Exact mapping: the two concepts are equivalent) UMLS:C5681690 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98716 Heart position anomaly Category ORPHA:98716 UMLS:C5681690 E (Exact mapping: the two concepts are equivalent) UMLS:C5681688 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98717 Transposition of the great arteries and conotruncal cardiac anomaly Category ORPHA:98717 UMLS:C5681688 E (Exact mapping: the two concepts are equivalent) UMLS:C5681689 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98718 Aortic malformation Category ORPHA:98718 UMLS:C5681689 E (Exact mapping: the two concepts are equivalent) UMLS:C5681692 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98719 Pulmonary artery or pulmonary branch anomaly Category ORPHA:98719 UMLS:C5681692 E (Exact mapping: the two concepts are equivalent) UMLS:C5681693 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98720 Atrioventricular valve anomaly Category ORPHA:98720 UMLS:C5681693 E (Exact mapping: the two concepts are equivalent) UMLS:C5681691 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98721 Congenital tricuspid malformation Category ORPHA:98721 UMLS:C5681691 E (Exact mapping: the two concepts are equivalent) AVSD Atrioventricular canal defect ICD-10:Q21.2 ICD-11:LA87.4 MeSH:C562831 MedDRA:10063836 OMIM:606215 OMIM:606217 OMIM:614430 OMIM:614474 OMIM:615779 UMLS:C1389018 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98722 Atrioventricular septal defect Clinical group ORPHA:98722 ICD-10:Q21.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA87.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562831 E (Exact mapping: the two concepts are equivalent) MedDRA:10063836 E (Exact mapping: the two concepts are equivalent) OMIM:606215 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606217 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614430 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614474 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615779 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1389018 E (Exact mapping: the two concepts are equivalent) A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. Orphanet ICD-10:Q22.6 MedDRA:10064962 UMLS:C0344963 Neonatal Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 19.8 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 24.1 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 9.5 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 3.9 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.68 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98723 Hypoplastic right heart syndrome Clinical group ORPHA:98723 ICD-10:Q22.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10064962 E (Exact mapping: the two concepts are equivalent) UMLS:C0344963 E (Exact mapping: the two concepts are equivalent) Congenital aorta, aortic arch or pulmonary arteries anomaly UMLS:C0948632 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98724 Congenital anomaly of the great arteries Category ORPHA:98724 UMLS:C0948632 E (Exact mapping: the two concepts are equivalent) UMLS:C0345043 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98725 Ascending aorta anomaly Category ORPHA:98725 UMLS:C0345043 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Pulmonary artery or pulmonary branch anomaly OBSOLETE: Pulmonary artery/pulmonary branch anomaly ORPHA:98726 Atrial defect and interauricular communication UMLS:C5680337 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98727 Rare atrial defect and interatrial communication Category ORPHA:98727 UMLS:C5680337 E (Exact mapping: the two concepts are equivalent) UMLS:C0265914 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98729 Congenital pulmonary veins anomaly Category ORPHA:98729 UMLS:C0265914 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Criss-cross heart OBSOLETE: Atrioventricular discordance ORPHA:98730 A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others. Orphanet MeSH:D001164 MedDRA:10003226 UMLS:C0332965 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98731 Congenital arteriovenous fistula Category ORPHA:98731 MeSH:D001164 E (Exact mapping: the two concepts are equivalent) MedDRA:10003226 E (Exact mapping: the two concepts are equivalent) UMLS:C0332965 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndrome with cardiac malformations OBSOLETE: Syndrome associated with a congenital cardiopathy ORPHA:98732 UMLS:C5681679 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98733 Noonan syndrome and Noonan-related syndrome Category ORPHA:98733 UMLS:C5681679 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome OBSOLETE: Cardioskeletal syndrome ORPHA:98734 OBSOLETE: Genetic neurological channelopathy ORPHA:98736 UMLS:C5681683 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98737 Genetic neurological muscular channelopathy Category ORPHA:98737 UMLS:C5681683 E (Exact mapping: the two concepts are equivalent) UMLS:C5681681 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98738 Neurological muscular channelopathy due to a genetic sodium channel defect Category ORPHA:98738 UMLS:C5681681 E (Exact mapping: the two concepts are equivalent) UMLS:C5681687 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98739 Neurological muscular channelopathy due to a genetic chloride channel defect Category ORPHA:98739 UMLS:C5681687 E (Exact mapping: the two concepts are equivalent) UMLS:C5681686 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98740 Neurological muscular channelopathy due to a genetic calcium channel defect Category ORPHA:98740 UMLS:C5681686 E (Exact mapping: the two concepts are equivalent) UMLS:C5681685 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98741 Neurological muscular channelopathy due to a genetic potassium channel defect Category ORPHA:98741 UMLS:C5681685 E (Exact mapping: the two concepts are equivalent) UMLS:C5681684 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect Category ORPHA:98742 UMLS:C5681684 E (Exact mapping: the two concepts are equivalent) UMLS:C5681704 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98743 Genetic neurological channelopathy of the central nervous system Category ORPHA:98743 UMLS:C5681704 E (Exact mapping: the two concepts are equivalent) UMLS:C5681705 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98744 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect Category ORPHA:98744 UMLS:C5681705 E (Exact mapping: the two concepts are equivalent) UMLS:C5681707 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98745 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect Category ORPHA:98745 UMLS:C5681707 E (Exact mapping: the two concepts are equivalent) UMLS:C5681708 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98746 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect Category ORPHA:98746 UMLS:C5681708 E (Exact mapping: the two concepts are equivalent) UMLS:C5681700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98747 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect Category ORPHA:98747 UMLS:C5681700 E (Exact mapping: the two concepts are equivalent) UMLS:C5681701 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98748 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect Category ORPHA:98748 UMLS:C5681701 E (Exact mapping: the two concepts are equivalent) UMLS:C5681702 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98749 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect Category ORPHA:98749 UMLS:C5681702 E (Exact mapping: the two concepts are equivalent) UMLS:C5681703 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98750 Autoimmune neurological channelopathy Category ORPHA:98750 UMLS:C5681703 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune neurological channelopathy OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect ORPHA:98751 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune neurological channelopathy OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect ORPHA:98752 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autoimmune neurological channelopathy OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect ORPHA:98753 UPD(15)mat ICD-10:Q87.1 ICD-11:LD90.3 OMIM:176270 UMLS:C5680343 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Etiological subtype ORPHA:98754 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:176270 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680343 E (Exact mapping: the two concepts are equivalent) SCA1 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Orphanet ICD-10:G11.8 ICD-11:8A03.16 OMIM:164400 UMLS:C0752120 Autosomal dominant All ages Worldwide AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98755 Spinocerebellar ataxia type 1 ORPHA:98755 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:164400 E (Exact mapping: the two concepts are equivalent) UMLS:C0752120 E (Exact mapping: the two concepts are equivalent) SCA2 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Orphanet ICD-10:G11.2 ICD-11:8A03.16 OMIM:183090 UMLS:C0752121 Autosomal dominant All ages Worldwide AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98756 Spinocerebellar ataxia type 2 ORPHA:98756 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:183090 E (Exact mapping: the two concepts are equivalent) UMLS:C0752121 E (Exact mapping: the two concepts are equivalent) Azorean disease of the nervous system MJD Machado disease Machado-Joseph disease Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia SCA3 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MeSH:D017827 OMIM:109150 UMLS:C0024408 Autosomal dominant Adult Childhood Japan AND has_point_prevalence_average_value : 5.5 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98757 Spinocerebellar ataxia type 3 ORPHA:98757 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D017827 E (Exact mapping: the two concepts are equivalent) OMIM:109150 E (Exact mapping: the two concepts are equivalent) UMLS:C0024408 E (Exact mapping: the two concepts are equivalent) SCA6 An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. Orphanet ICD-10:G11.2 ICD-11:8A03.16 OMIM:183086 UMLS:C0752124 Autosomal dominant Adolescent Adult Elderly Japan AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98758 Spinocerebellar ataxia type 6 ORPHA:98758 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:183086 E (Exact mapping: the two concepts are equivalent) UMLS:C0752124 E (Exact mapping: the two concepts are equivalent) HDL4 Huntington disease-like 4 SCA17 Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MeSH:C564616 OMIM:607136 UMLS:C1846707 Autosomal dominant All ages Japan AND has_point_prevalence_average_value : 0.047 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98759 Spinocerebellar ataxia type 17 ORPHA:98759 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564616 E (Exact mapping: the two concepts are equivalent) OMIM:607136 E (Exact mapping: the two concepts are equivalent) UMLS:C1846707 E (Exact mapping: the two concepts are equivalent) SCA8 Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C537307 OMIM:608768 UMLS:C1837454 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98760 Spinocerebellar ataxia type 8 ORPHA:98760 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537307 E (Exact mapping: the two concepts are equivalent) OMIM:608768 E (Exact mapping: the two concepts are equivalent) UMLS:C1837454 E (Exact mapping: the two concepts are equivalent) SCA10 Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C566874 OMIM:603516 UMLS:C1963674 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98761 Spinocerebellar ataxia type 10 ORPHA:98761 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566874 E (Exact mapping: the two concepts are equivalent) OMIM:603516 E (Exact mapping: the two concepts are equivalent) UMLS:C1963674 E (Exact mapping: the two concepts are equivalent) SCA12 Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C565790 OMIM:604326 UMLS:C1858501 Autosomal dominant All ages Worldwide AND has_cases/families_value : 40.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98762 Spinocerebellar ataxia type 12 ORPHA:98762 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565790 E (Exact mapping: the two concepts are equivalent) OMIM:604326 E (Exact mapping: the two concepts are equivalent) UMLS:C1858501 E (Exact mapping: the two concepts are equivalent) SCA14 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C537196 OMIM:605361 UMLS:C1854369 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98763 Spinocerebellar ataxia type 14 ORPHA:98763 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537196 E (Exact mapping: the two concepts are equivalent) OMIM:605361 E (Exact mapping: the two concepts are equivalent) UMLS:C1854369 E (Exact mapping: the two concepts are equivalent) SCA27A Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MeSH:C537204 OMIM:193003 UMLS:C1836383 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98764 Spinocerebellar ataxia type 27A ORPHA:98764 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537204 E (Exact mapping: the two concepts are equivalent) OMIM:193003 E (Exact mapping: the two concepts are equivalent) UMLS:C1836383 E (Exact mapping: the two concepts are equivalent) SCA4 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy. Orphanet ICD-10:G11.2 ICD-11:8A03.16 OMIM:600223 UMLS:C0752122 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98765 Spinocerebellar ataxia type 4 ORPHA:98765 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600223 E (Exact mapping: the two concepts are equivalent) UMLS:C0752122 E (Exact mapping: the two concepts are equivalent) SCA5 An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. Orphanet ICD-10:G11.2 ICD-11:8A03.16 OMIM:600224 UMLS:C0752123 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98766 Spinocerebellar ataxia type 5 ORPHA:98766 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600224 E (Exact mapping: the two concepts are equivalent) UMLS:C0752123 E (Exact mapping: the two concepts are equivalent) SCA11 A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MeSH:C565772 OMIM:604432 UMLS:C1858351 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 51.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98767 Spinocerebellar ataxia type 11 ORPHA:98767 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565772 E (Exact mapping: the two concepts are equivalent) OMIM:604432 E (Exact mapping: the two concepts are equivalent) UMLS:C1858351 E (Exact mapping: the two concepts are equivalent) SCA13 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C537195 OMIM:605259 UMLS:C1854488 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98768 Spinocerebellar ataxia type 13 ORPHA:98768 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537195 E (Exact mapping: the two concepts are equivalent) OMIM:605259 E (Exact mapping: the two concepts are equivalent) UMLS:C1854488 E (Exact mapping: the two concepts are equivalent) SCA15/16 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment. Orphanet ICD-10:G11.2 ICD-11:8A03.16 OMIM:606658 Autosomal dominant Adult Elderly Worldwide AND has_cases/families_value : 80.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98769 Spinocerebellar ataxia type 15/16 ORPHA:98769 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:606658 E (Exact mapping: the two concepts are equivalent) SCA16 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 16 ORPHA:98770 SCA18 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MeSH:C537197 OMIM:607458 UMLS:C1843884 Autosomal dominant Adult Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98771 Spinocerebellar ataxia type 18 ORPHA:98771 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537197 E (Exact mapping: the two concepts are equivalent) OMIM:607458 E (Exact mapping: the two concepts are equivalent) UMLS:C1843884 E (Exact mapping: the two concepts are equivalent) SCA19/22 Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MeSH:C537198 OMIM:607346 UMLS:C5235656 Autosomal dominant Adult Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98772 Spinocerebellar ataxia type 19/22 ORPHA:98772 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537198 E (Exact mapping: the two concepts are equivalent) OMIM:607346 E (Exact mapping: the two concepts are equivalent) UMLS:C5235656 E (Exact mapping: the two concepts are equivalent) SCA21 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. Orphanet ICD-10:G11.1 ICD-11:8A03.16 MeSH:C537200 OMIM:607454 UMLS:C1843891 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98773 Spinocerebellar ataxia type 21 ORPHA:98773 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537200 E (Exact mapping: the two concepts are equivalent) OMIM:607454 E (Exact mapping: the two concepts are equivalent) UMLS:C1843891 E (Exact mapping: the two concepts are equivalent) ADNFLE Autosomal dominant sleep-related hypermotor epilepsy A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. Orphanet ICD-10:G40.0 ICD-11:8A61.4Y MeSH:C579932 OMIM:600513 OMIM:603204 OMIM:605375 OMIM:610353 OMIM:615005 UMLS:C3696898 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_range : Unknown Worldwide AND has_cases/families_value : 100.0 (Family(ies)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98784 Autosomal dominant nocturnal frontal lobe epilepsy ORPHA:98784 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C579932 E (Exact mapping: the two concepts are equivalent) OMIM:600513 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603204 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605375 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610353 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615005 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3696898 E (Exact mapping: the two concepts are equivalent) Intellectual disability-dysmorphism-intrauterine growth retardation syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Wolf-Hirschhorn syndrome UMLS:C0796117 Pitt-Rogers-Danks syndrome ORPHA:98788 UMLS:C0796117 E (Exact mapping: the two concepts are equivalent) ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome Alpha thalassemia-intellectual disability syndrome, deletion type A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Orphanet ICD-10:D56.0 ICD-11:3A50.1 MeSH:C563050 OMIM:141750 UMLS:C0795917 Not applicable Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 ORPHA:98791 ICD-10:D56.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A50.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563050 E (Exact mapping: the two concepts are equivalent) OMIM:141750 E (Exact mapping: the two concepts are equivalent) UMLS:C0795917 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.1 ICD-11:LD90.3 UMLS:C5681699 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98793 Prader-Willi syndrome due to paternal 15q11q13 deletion Etiological subtype ORPHA:98793 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681699 E (Exact mapping: the two concepts are equivalent) Angelman syndrome due to maternal monosomy 15q11q13 ICD-10:Q93.5 ICD-11:LD90.0 UMLS:C5566334 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98794 Angelman syndrome due to maternal 15q11q13 deletion Etiological subtype ORPHA:98794 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5566334 E (Exact mapping: the two concepts are equivalent) UPD(15)pat ICD-10:Q93.5 ICD-11:LD90.0 OMIM:105830 UMLS:C5680342 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Etiological subtype ORPHA:98795 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:105830 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680342 E (Exact mapping: the two concepts are equivalent) A rare sex-chromosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization. Orphanet ICD-10:Q98.6 UMLS:C4707793 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98797 Isochromosomy Yp syndrome ORPHA:98797 ICD-10:Q98.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707793 E (Exact mapping: the two concepts are equivalent) A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia. Orphanet ICD-10:Q98.6 UMLS:C4749291 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98798 Isochromosomy Yq syndrome ORPHA:98798 ICD-10:Q98.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749291 E (Exact mapping: the two concepts are equivalent) Absent tibia-polydactyly syndrome Werner mesomelic spectrum Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. Orphanet ICD-10:Q87.2 MeSH:C535564 OMIM:188740 UMLS:C4707180 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome ORPHA:988 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535564 E (Exact mapping: the two concepts are equivalent) OMIM:188740 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4707180 E (Exact mapping: the two concepts are equivalent) DYT4 Hereditary whispering dysphonia DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). Orphanet ICD-10:G24.1 ICD-11:8A02.0Y MeSH:C536698 OMIM:128101 UMLS:C1860315 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 22.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98805 Primary dystonia, DYT4 type ORPHA:98805 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536698 E (Exact mapping: the two concepts are equivalent) OMIM:128101 E (Exact mapping: the two concepts are equivalent) UMLS:C1860315 E (Exact mapping: the two concepts are equivalent) DYT6 Generalized cervical and upper-limb-onset dystonia Idiopathic torsion dystonia of mixed type A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory. Orphanet ICD-10:G24.1 ICD-11:8A02.0Y MeSH:C538003 OMIM:602629 UMLS:C1414216 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 53.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98806 Primary dystonia, DYT6 type ORPHA:98806 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538003 E (Exact mapping: the two concepts are equivalent) OMIM:602629 E (Exact mapping: the two concepts are equivalent) UMLS:C1414216 E (Exact mapping: the two concepts are equivalent) DYT13 Primary dystonia with mixed phenotype Primary torsion dystonia with predominant craniocervical or upper limb onset A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive. Orphanet ICD-10:G24.1 ICD-11:8A02.0Y MeSH:C564354 OMIM:607671 UMLS:C1843264 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98807 Primary dystonia, DYT13 type ORPHA:98807 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564354 E (Exact mapping: the two concepts are equivalent) OMIM:607671 E (Exact mapping: the two concepts are equivalent) UMLS:C1843264 E (Exact mapping: the two concepts are equivalent) Autosomal dominant Segawa syndrome DYT5a GTPCH1-deficient DRD GTPCH1-deficient dopa-responsive dystonia HPD with marked diurnal fluctuation Hereditary progressive dystonia with marked diurnal fluctuation A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. Orphanet ICD-10:G24.1 ICD-11:8A02.11 OMIM:128230 OMIM:619911 Autosomal dominant Not applicable Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98808 Autosomal dominant dopa-responsive dystonia ORPHA:98808 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:128230 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619911 BTNT (ORPHAcode is broader than the targeted code used to represent it) Familial PKD Familial paroxysmal kinesigenic dyskinesia Paroxysmal kinesigenic choreathetosis Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. Orphanet ICD-10:G24.8 ICD-11:8A02.2 OMIM:128200 OMIM:611031 UMLS:C1868682 Autosomal dominant Not applicable Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98809 Paroxysmal kinesigenic dyskinesia ORPHA:98809 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:128200 E (Exact mapping: the two concepts are equivalent) OMIM:611031 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1868682 E (Exact mapping: the two concepts are equivalent) Paroxystic non-kinesigenic choreoathetosis Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. Orphanet ICD-10:G24.8 MeSH:C537181 OMIM:118800 OMIM:611147 UMLS:C5680312 Autosomal dominant Not applicable Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98810 Paroxysmal non-kinesigenic dyskinesia ORPHA:98810 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537181 E (Exact mapping: the two concepts are equivalent) OMIM:118800 E (Exact mapping: the two concepts are equivalent) OMIM:611147 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680312 E (Exact mapping: the two concepts are equivalent) DYT18 Dystonia 18 PED Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. Orphanet ICD-10:G24.8 ICD-11:8A02.2 MeSH:C564288 OMIM:612126 UMLS:C1842534 Autosomal dominant Not applicable Adolescent Adult Childhood Infancy Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98811 Paroxysmal exertion-induced dyskinesia ORPHA:98811 ICD-10:G24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564288 E (Exact mapping: the two concepts are equivalent) OMIM:612126 E (Exact mapping: the two concepts are equivalent) UMLS:C1842534 E (Exact mapping: the two concepts are equivalent) Nocturnal paroxysmal dystonia Paroxysmal hypnagogic dyskinesia Paroxysmal hypnagogic dystonia Paroxysmal nocturnal dyskinesia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant nocturnal frontal lobe epilepsy UMLS:C0393777 Paroxysmal hypnogenic dyskinesia ORPHA:98812 UMLS:C0393777 E (Exact mapping: the two concepts are equivalent) Anhidrotic ectodermal dysplasia with immunodeficiency EDA-ID HED-ID A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. Orphanet ICD-10:D82.8 ICD-11:LD27.02 MeSH:C536181 OMIM:300291 OMIM:612132 UMLS:C1846006 Autosomal dominant X-linked recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98813 Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536181 E (Exact mapping: the two concepts are equivalent) OMIM:300291 E (Exact mapping: the two concepts are equivalent) OMIM:612132 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1846006 E (Exact mapping: the two concepts are equivalent) Benign childhood occipital epilepsy, Panayiotopoulos type Early-onset benign childhood occipital epilepsy Panayiotopoulos syndrome SeLEAS Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. Orphanet ICD-10:G40.0 ICD-11:8A61.2Y UMLS:C0393676 United Kingdom AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98815 Self-limited epilepsy with autonomic seizures Clinical subtype ORPHA:98815 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0393676 E (Exact mapping: the two concepts are equivalent) COVE Idiopathic chilldhood occipital epilepsy-Gastaut type Late-onset benign childhood occipital epilepsy Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. Orphanet ICD-10:G40.0 ICD-11:8A61.2Y UMLS:C0393677 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98816 Childhood occipital visual epilepsy Clinical subtype ORPHA:98816 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0393677 E (Exact mapping: the two concepts are equivalent) Acquired epileptic aphasia LKS A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome (LKS), receptive language is mainly affected, with an acquired auditory verbal agnosia. Orphanet ICD-10:F80.3 ICD-11:8A62.2 MeSH:D018887 MedDRA:10052075 OMIM:245570 UMLS:C0282512 Autosomal dominant Unknown Childhood Japan AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98818 Landau-Kleffner syndrome ORPHA:98818 ICD-10:F80.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8A62.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018887 E (Exact mapping: the two concepts are equivalent) MedDRA:10052075 E (Exact mapping: the two concepts are equivalent) OMIM:245570 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0282512 E (Exact mapping: the two concepts are equivalent) A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal. Orphanet ICD-10:G40.2 ICD-11:8A61.4Y MeSH:C536956 OMIM:608096 OMIM:611631 UMLS:C1842564 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98819 Familial temporal lobe epilepsy ORPHA:98819 ICD-10:G40.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536956 E (Exact mapping: the two concepts are equivalent) OMIM:608096 E (Exact mapping: the two concepts are equivalent) OMIM:611631 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842564 E (Exact mapping: the two concepts are equivalent) FFEVF Familial partial epilepsy with variable foci Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. Orphanet ICD-10:G40.0 ICD-11:8A61.4Y OMIM:604364 OMIM:617116 OMIM:617118 UMLS:C1858477 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98820 Familial focal epilepsy with variable foci ORPHA:98820 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:604364 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617116 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617118 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1858477 E (Exact mapping: the two concepts are equivalent) CMML A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature, with blood monocytosis (> 1G/L, constituting > 10% of circulating leukocytes). Is it often associated with blood cytopenia and/or ''proliferative features'' (increased leukocyte counts, splenomegaly), with marrow dysplasia and risk of progression to acute myeloid leukemia (AML). Orphanet ICD-10:C93.1 ICD-11:2A40 MeSH:D015477 MedDRA:10009018 UMLS:C0023480 Not applicable Adult Worldwide AND has_annual_incidence_average_value : 0.68 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98823 Chronic myelomonocytic leukemia ORPHA:98823 ICD-10:C93.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015477 E (Exact mapping: the two concepts are equivalent) MedDRA:10009018 E (Exact mapping: the two concepts are equivalent) UMLS:C0023480 E (Exact mapping: the two concepts are equivalent) Subacute myeloid leukemia A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor. Orphanet ICD-10:C92.2 ICD-11:2A41 MeSH:D054438 MedDRA:10054651 UMLS:C1292772 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98824 Atypical chronic myeloid leukemia ORPHA:98824 ICD-10:C92.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054438 E (Exact mapping: the two concepts are equivalent) MedDRA:10054651 E (Exact mapping: the two concepts are equivalent) UMLS:C1292772 E (Exact mapping: the two concepts are equivalent) Unclassified mixed myelodysplastic/myeloproliferatic syndrome A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met. Orphanet ICD-10:C94.6 ICD-11:2A44 UMLS:C1328061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98825 Unclassified myelodysplastic/myeloproliferative disease ORPHA:98825 ICD-10:C94.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A44 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1328061 E (Exact mapping: the two concepts are equivalent) MDS-LB Refractory anemia Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage. Orphanet ICD-10:D46.7 ICD-11:2A30 MeSH:D000753 MedDRA:10038269 UMLS:C0002893 Not applicable Adolescent Adult Childhood Elderly Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98826 Myelodysplastic neoplasm with low blasts ORPHA:98826 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000753 E (Exact mapping: the two concepts are equivalent) MedDRA:10038269 E (Exact mapping: the two concepts are equivalent) UMLS:C0002893 E (Exact mapping: the two concepts are equivalent) Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance. Orphanet ICD-10:D46.7 ICD-11:2A37 UMLS:C5681636 Not applicable All ages Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98827 Unclassified myelodysplastic syndrome ORPHA:98827 ICD-10:D46.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A37 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681636 E (Exact mapping: the two concepts are equivalent) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count. Orphanet ICD-10:C92.7 ICD-11:2A60.0 UMLS:C5395080 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ORPHA:98829 ICD-10:C92.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5395080 E (Exact mapping: the two concepts are equivalent) AML with 11q23 abnormalities A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss. Orphanet ICD-10:C92.6 ICD-11:2A60.0 ICD-11:XH1E41 UMLS:C1292775 Childhood Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98831 Acute myeloid leukemia with 11q23 abnormalities ORPHA:98831 ICD-10:C92.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1E41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1292775 E (Exact mapping: the two concepts are equivalent) AML M0 Minimally differentiated acute myeloblastic leukemia A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported. Orphanet ICD-10:C92.0 ICD-11:2A60.30 ICD-11:XH90G0 UMLS:C0522631 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98832 Acute myeloid leukemia with minimal differentiation ORPHA:98832 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A60.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH90G0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0522631 E (Exact mapping: the two concepts are equivalent) AML M1 Acute myeloblastic leukemia M1 A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly. Orphanet ICD-10:C92.0 ICD-11:2A60.31 UMLS:C0026998 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98833 Acute myeloblastic leukemia without maturation ORPHA:98833 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0026998 E (Exact mapping: the two concepts are equivalent) AML M2 Acute myeloblastic leukemia M2 A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly. Orphanet ICD-10:C92.0 ICD-11:2A60.32 UMLS:C1879321 Not applicable All ages Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98834 Acute myeloblastic leukemia with maturation ORPHA:98834 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A60.32 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1879321 E (Exact mapping: the two concepts are equivalent) Acute myeloid leukemia, minimal differentiation, FAB M0 A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly). Orphanet ICD-10:C95.0 ICD-11:2A60.30 MedDRA:10045516 OMIM:601626 UMLS:C0280141 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98835 Acute undifferentiated leukemia ORPHA:98835 ICD-10:C95.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10045516 E (Exact mapping: the two concepts are equivalent) OMIM:601626 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0280141 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mixed phenotype acute leukemia Bilineal acute leukemia ORPHA:98836 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mixed phenotype acute leukemia Acute biphenotypic leukemia ORPHA:98837 Large cell lymphoma of the mediastinum Med-DLBCL Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome. Orphanet ICD-10:C83.3 ICD-11:2A81.0 MedDRA:10036710 UMLS:C1292754 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98838 Primary mediastinal large B-cell lymphoma ORPHA:98838 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10036710 E (Exact mapping: the two concepts are equivalent) UMLS:C1292754 E (Exact mapping: the two concepts are equivalent) Angioendotheliomatosis proliferans systemisata Angiotropic large cell lymphoma Intravascular lymphomatosis Malignant angioendotheliomatosis Tappeiner-Pfleger disease Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis. Orphanet ICD-10:C83.3 ICD-11:2A81.1 MedDRA:10069643 UMLS:C0334660 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98839 Intravascular large B-cell lymphoma ORPHA:98839 ICD-10:C83.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A81.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10069643 E (Exact mapping: the two concepts are equivalent) UMLS:C0334660 E (Exact mapping: the two concepts are equivalent) ALCL CD30 positive anaplastic large cell lymphoma Ki-1 positive anaplastic large cell lymphoma Primary systemic ALCL sACL A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. Orphanet ICD-10:C84.6 ICD-10:C84.7 ICD-11:2A90.A ICD-11:2A90.B MeSH:D017728 UMLS:C0206180 Not applicable All ages Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98841 Anaplastic large cell lymphoma ORPHA:98841 ICD-10:C84.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:C84.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.A - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A90.B - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017728 E (Exact mapping: the two concepts are equivalent) UMLS:C0206180 E (Exact mapping: the two concepts are equivalent) LyP Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features. Orphanet ICD-10:C86.6 ICD-11:2B03.1 MeSH:D017731 MedDRA:10056670 UMLS:C0206182 All ages Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98842 Lymphomatoid papulosis ORPHA:98842 ICD-10:C86.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2B03.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D017731 E (Exact mapping: the two concepts are equivalent) MedDRA:10056670 E (Exact mapping: the two concepts are equivalent) UMLS:C0206182 E (Exact mapping: the two concepts are equivalent) ICD-10:C81.1 ICD-11:2B30.10 MedDRA:10020244 UMLS:C0152268 Adult Europe AND has_annual_incidence_average_value : 1.28 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98843 Classic Hodgkin lymphoma, nodular sclerosis type Histopathological subtype ORPHA:98843 ICD-10:C81.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B30.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10020244 E (Exact mapping: the two concepts are equivalent) UMLS:C0152268 E (Exact mapping: the two concepts are equivalent) ICD-10:C81.2 ICD-11:2B30.12 MedDRA:10020242 UMLS:C0152266 Adult Europe AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98844 Classic Hodgkin lymphoma, mixed cellularity type Histopathological subtype ORPHA:98844 ICD-10:C81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B30.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10020242 E (Exact mapping: the two concepts are equivalent) UMLS:C0152266 E (Exact mapping: the two concepts are equivalent) ICD-10:C81.4 ICD-11:2B30.11 MedDRA:10020231 UMLS:C5681637 Adult Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98845 Classic Hodgkin lymphoma, lymphocyte-rich type Histopathological subtype ORPHA:98845 ICD-10:C81.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B30.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10020231 E (Exact mapping: the two concepts are equivalent) UMLS:C5681637 E (Exact mapping: the two concepts are equivalent) ICD-10:C81.3 ICD-11:2B30.13 MedDRA:10020219 UMLS:C0152267 Adult Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98846 Classic Hodgkin lymphoma, lymphocyte-depleted type Histopathological subtype ORPHA:98846 ICD-10:C81.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2B30.13 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10020219 E (Exact mapping: the two concepts are equivalent) UMLS:C0152267 E (Exact mapping: the two concepts are equivalent) A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin. Orphanet ICD-10:D47.0 ICD-11:2A21.0Y ICD-11:XH2Y59 MedDRA:10056452 UMLS:C0272203 Not applicable Adult Elderly Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98848 Indolent systemic mastocytosis ORPHA:98848 ICD-10:D47.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH2Y59 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10056452 E (Exact mapping: the two concepts are equivalent) UMLS:C0272203 E (Exact mapping: the two concepts are equivalent) SM-AHN SM-AHNMD Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature. Orphanet ICD-10:C96.2 ICD-11:2A21.0Y ICD-11:XH5195 UMLS:C1301365 Not applicable Adult Elderly Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98849 Systemic mastocytosis with associated hematologic neoplasm ORPHA:98849 ICD-10:C96.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH5195 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1301365 E (Exact mapping: the two concepts are equivalent) A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. Orphanet ICD-10:C96.2 ICD-11:2A21.0Y ICD-11:XH10N1 MedDRA:10056453 UMLS:C1112486 Not applicable Adult Antenatal Elderly Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98850 Aggressive systemic mastocytosis ORPHA:98850 ICD-10:C96.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A21.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH10N1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10056453 E (Exact mapping: the two concepts are equivalent) UMLS:C1112486 E (Exact mapping: the two concepts are equivalent) A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow). Orphanet ICD-10:C94.3 ICD-11:2A21.00 MeSH:D007946 MedDRA:10056450 UMLS:C0023461 Not applicable All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98851 Mast cell leukemia ORPHA:98851 ICD-10:C94.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A21.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007946 E (Exact mapping: the two concepts are equivalent) MedDRA:10056450 E (Exact mapping: the two concepts are equivalent) UMLS:C0023461 E (Exact mapping: the two concepts are equivalent) A rare idiopathic interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly progressive shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance. Orphanet ICD-10:J84.1 ICD-11:CB03.3 OMIM:263000 UMLS:C0238378 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98852 Desquamative interstitial pneumonia ORPHA:98852 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB03.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:263000 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0238378 E (Exact mapping: the two concepts are equivalent) EDMD2 ICD-10:G71.0 ICD-11:8C70.2 OMIM:181350 OMIM:612998 OMIM:612999 OMIM:614302 UMLS:C0410190 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98853 Autosomal dominant Emery-Dreifuss muscular dystrophy Etiological subtype ORPHA:98853 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:181350 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612998 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612999 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614302 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0410190 E (Exact mapping: the two concepts are equivalent) EDMD3 ICD-10:G71.0 ICD-11:8C70.2 OMIM:616516 UMLS:C1450051 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98855 Autosomal recessive Emery-Dreifuss muscular dystrophy Etiological subtype ORPHA:98855 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616516 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1450051 E (Exact mapping: the two concepts are equivalent) AR-CMT2B1 Autosomal recessive Charcot-Marie-Tooth disease type 2B1 Autosomal recessive axonal CMT4C1 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C537990 OMIM:605588 UMLS:C1854154 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98856 Charcot-Marie-Tooth disease type 2B1 ORPHA:98856 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537990 E (Exact mapping: the two concepts are equivalent) OMIM:605588 E (Exact mapping: the two concepts are equivalent) UMLS:C1854154 E (Exact mapping: the two concepts are equivalent) Dextrocardia-bronchiectasis-sinusitis syndrome Immotile cilia syndrome, Kartagener type Kartagener syndrome Siewert syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary ciliary dyskinesia UMLS:C0022521 Primary ciliary dyskinesia, Kartagener type ORPHA:98861 UMLS:C0022521 E (Exact mapping: the two concepts are equivalent) ICD-10:G71.0 ICD-11:8C70.2 MeSH:D000083143 OMIM:300696 OMIM:310300 UMLS:C0751337 X-linked recessive Childhood United Kingdom AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98863 X-linked Emery-Dreifuss muscular dystrophy Etiological subtype ORPHA:98863 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D000083143 E (Exact mapping: the two concepts are equivalent) OMIM:300696 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:310300 E (Exact mapping: the two concepts are equivalent) UMLS:C0751337 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary elliptocytosis Common hereditary elliptocytosis ORPHA:98864 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary elliptocytosis Homozygous hereditary elliptocytosis ORPHA:98865 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary elliptocytosis OBSOLETE: Spherocytic elliptocytosis ORPHA:98866 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary elliptocytosis OMIM:266140 UMLS:C0520739 Hereditary pyropoikilocytosis ORPHA:98867 OMIM:266140 E (Exact mapping: the two concepts are equivalent) UMLS:C0520739 E (Exact mapping: the two concepts are equivalent) Hereditary ovalocytosis Melanesian elliptocytosis Melanesian ovalocytosis SAO Stomatocytic elliptocytosis Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. Orphanet ICD-10:D58.1 ICD-11:3A10.Y OMIM:166900 UMLS:C1862322 Autosomal dominant All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98868 Southeast Asian ovalocytosis ORPHA:98868 ICD-10:D58.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:166900 E (Exact mapping: the two concepts are equivalent) UMLS:C1862322 E (Exact mapping: the two concepts are equivalent) CDA I CDA type 1 CDA type I Congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. Orphanet ICD-10:D64.4 ICD-11:3A73 OMIM:224120 OMIM:615631 UMLS:C0271933 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98869 Congenital dyserythropoietic anemia type I ORPHA:98869 ICD-10:D64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:224120 E (Exact mapping: the two concepts are equivalent) OMIM:615631 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0271933 E (Exact mapping: the two concepts are equivalent) CDA III CDA type 3 CDA type III Congenital dyserythropoietic anemia type 3 A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. Orphanet ICD-10:D64.4 ICD-11:3A73 OMIM:105600 OMIM:619789 UMLS:C0271934 Autosomal dominant Autosomal recessive All ages Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98870 Congenital dyserythropoietic anemia type III ORPHA:98870 ICD-10:D64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:105600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619789 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0271934 E (Exact mapping: the two concepts are equivalent) Transient acquired pure red cell aplasia A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed. Orphanet ICD-10:D60.1 ICD-11:3A61.0 MeSH:C536980 OMIM:227050 UMLS:C0238478 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98871 Transient erythroblastopenia of childhood ORPHA:98871 ICD-10:D60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536980 E (Exact mapping: the two concepts are equivalent) OMIM:227050 E (Exact mapping: the two concepts are equivalent) UMLS:C0238478 E (Exact mapping: the two concepts are equivalent) Primary acquired PRCA A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. Orphanet ICD-10:D60.0 ICD-11:3A61 UMLS:C4707560 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98872 Primary acquired pure red cell aplasia ORPHA:98872 ICD-10:D60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4707560 E (Exact mapping: the two concepts are equivalent) CDA II CDA type 2 CDA type II Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. Orphanet ICD-10:D64.4 ICD-11:3A73 OMIM:224100 UMLS:C1306589 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98873 Congenital dyserythropoietic anemia type II ORPHA:98873 ICD-10:D64.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:224100 E (Exact mapping: the two concepts are equivalent) UMLS:C1306589 E (Exact mapping: the two concepts are equivalent) Congenital F8 deficiency Congenital FVIII deficiency Congenital Factor VIII deficiency A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. Orphanet ICD-10:D66 ICD-11:3B10.0 MeSH:D006467 MedDRA:10010468 OMIM:306700 UMLS:C0019069 X-linked recessive Childhood Infancy Neonatal Africa AND has_point_prevalence_average_value : 1.58 AND has_point_prevalence_range : 1-9 / 100 000 Albania AND has_point_prevalence_average_value : 7.6 AND has_point_prevalence_range : 1-9 / 100 000 Algeria AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 Argentina AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Armenia AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000 Austria AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 Azerbaijan AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 Bangladesh AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Belarus AND has_point_prevalence_average_value : 5.1 AND has_point_prevalence_range : 1-9 / 100 000 Belgium AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Belize AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 Bolivia AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Bosnia and Herzegovina AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 Brazil AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Bulgaria AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 7.3 AND has_point_prevalence_range : 1-9 / 100 000 Chile AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Colombia AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 Costa rica AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Croatia AND has_point_prevalence_average_value : 8.5 AND has_point_prevalence_range : 1-9 / 100 000 Cuba AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 Cyprus AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 6.2 AND has_point_prevalence_range : 1-9 / 100 000 Dominican Republic AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000 Ecuador AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Egypt AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 El Salvador AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Eritrea AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Estonia AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 4.6 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 10.5 AND has_point_prevalence_range : 1-5 / 10 000 Georgia AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Greece AND has_point_prevalence_average_value : 6.5 AND has_point_prevalence_range : 1-9 / 100 000 Guatemala AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Honduras AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_point_prevalence_average_value : 8.3 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_point_prevalence_average_value : 19.3 AND has_point_prevalence_range : 1-5 / 10 000 India AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Indonesia AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Iraq AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 9.2 AND has_point_prevalence_range : 1-9 / 100 000 Israel AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000 Jamaica AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Jordan AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 Kenya AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Latvia AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Lebanon AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Lesotho AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 Lithuania AND has_point_prevalence_average_value : 4.1 AND has_point_prevalence_range : 1-9 / 100 000 Luxembourg AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000 Malaysia AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Malta AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Mexico AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 Moldova, Republic of AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000 Mongolia AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Morocco AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Nepal AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 9.3 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 Nicaragua AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Nigeria AND has_point_prevalence_average_value : 0.025 AND has_point_prevalence_range : <1 / 1 000 000 North Macedonia AND has_point_prevalence_average_value : 8.1 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000 Pakistan AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Palestinian Territory, occupied AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 Panama AND has_point_prevalence_average_value : 6.6 AND has_point_prevalence_range : 1-9 / 100 000 Paraguay AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Peru AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000 Philippines AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Qatar AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_point_prevalence_average_value : 6.4 AND has_point_prevalence_range : 1-9 / 100 000 Russian Federation AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Senegal AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Serbia AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Sierra leone AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Singapore AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Slovakia AND has_point_prevalence_average_value : 8.6 AND has_point_prevalence_range : 1-9 / 100 000 Slovenia AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000 South Africa AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 Sri Lanka AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 Sudan AND has_point_prevalence_average_value : 0.85 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 7.7 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Thailand AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000 Togo AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000 Tunisia AND has_point_prevalence_average_value : 2.2 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 Ukraine AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 10.4 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 Uruguay AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Uzbekistan AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 Venezuela AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Viet Nam AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 11.25 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 4.85 AND has_point_prevalence_range : 1-9 / 100 000 Zimbabwe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98878 Hemophilia A ORPHA:98878 ICD-10:D66 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3B10.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006467 E (Exact mapping: the two concepts are equivalent) MedDRA:10010468 E (Exact mapping: the two concepts are equivalent) OMIM:306700 E (Exact mapping: the two concepts are equivalent) UMLS:C0019069 E (Exact mapping: the two concepts are equivalent) Christmas disease Congenital F9 deficiency Congenital factor IX deficiency A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. Orphanet ICD-10:D67 ICD-11:3B11.0 MeSH:D002836 MedDRA:10010467 OMIM:306900 UMLS:C0008533 X-linked recessive Childhood Infancy Neonatal Albania AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Algeria AND has_point_prevalence_average_value : 0.44 AND has_point_prevalence_range : 1-9 / 1 000 000 Argentina AND has_point_prevalence_average_value : 0.54 AND has_point_prevalence_range : 1-9 / 1 000 000 Armenia AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Austria AND has_point_prevalence_average_value : 0.665 AND has_point_prevalence_range : 1-9 / 1 000 000 Azerbaijan AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000 Bangladesh AND has_point_prevalence_average_value : 0.015 AND has_point_prevalence_range : <1 / 1 000 000 Belarus AND has_point_prevalence_average_value : 0.84 AND has_point_prevalence_range : 1-9 / 1 000 000 Belgium AND has_point_prevalence_average_value : 1.32 AND has_point_prevalence_range : 1-9 / 100 000 Belize AND has_point_prevalence_average_value : 1.155 AND has_point_prevalence_range : 1-9 / 100 000 Bolivia AND has_point_prevalence_average_value : 0.045 AND has_point_prevalence_range : <1 / 1 000 000 Bosnia and Herzegovina AND has_point_prevalence_average_value : 0.265 AND has_point_prevalence_range : 1-9 / 1 000 000 Brazil AND has_point_prevalence_average_value : 0.535 AND has_point_prevalence_range : 1-9 / 1 000 000 Bulgaria AND has_point_prevalence_average_value : 0.775 AND has_point_prevalence_range : 1-9 / 1 000 000 Chile AND has_point_prevalence_average_value : 0.795 AND has_point_prevalence_range : 1-9 / 1 000 000 Colombia AND has_point_prevalence_average_value : 0.405 AND has_point_prevalence_range : 1-9 / 1 000 000 Costa rica AND has_point_prevalence_average_value : 0.645 AND has_point_prevalence_range : 1-9 / 1 000 000 Croatia AND has_point_prevalence_average_value : 1.625 AND has_point_prevalence_range : 1-9 / 100 000 Cuba AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 Cyprus AND has_point_prevalence_average_value : 3.195 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 1.045 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 1.56 AND has_point_prevalence_range : 1-9 / 100 000 Dominican Republic AND has_point_prevalence_average_value : 0.165 AND has_point_prevalence_range : 1-9 / 1 000 000 Ecuador AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Egypt AND has_point_prevalence_average_value : 0.955 AND has_point_prevalence_range : 1-9 / 1 000 000 El Salvador AND has_point_prevalence_average_value : 0.31 AND has_point_prevalence_range : 1-9 / 1 000 000 Eritrea AND has_point_prevalence_average_value : 0.065 AND has_point_prevalence_range : <1 / 1 000 000 Estonia AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 1.235 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 2.44 AND has_point_prevalence_range : 1-9 / 100 000 Georgia AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_point_prevalence_average_value : 0.885 AND has_point_prevalence_range : 1-9 / 1 000 000 Greece AND has_point_prevalence_average_value : 1.075 AND has_point_prevalence_range : 1-9 / 100 000 Guatemala AND has_point_prevalence_average_value : 0.075 AND has_point_prevalence_range : <1 / 1 000 000 Honduras AND has_point_prevalence_average_value : 0.17 AND has_point_prevalence_range : 1-9 / 1 000 000 Hungary AND has_point_prevalence_average_value : 2.115 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_point_prevalence_average_value : 0.695 AND has_point_prevalence_range : 1-9 / 1 000 000 India AND has_point_prevalence_average_value : 0.095 AND has_point_prevalence_range : <1 / 1 000 000 Indonesia AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000 Iraq AND has_point_prevalence_average_value : 0.545 AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_point_prevalence_average_value : 0.995 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.06 AND has_point_prevalence_range : 1-9 / 100 000 Jamaica AND has_point_prevalence_average_value : 0.32 AND has_point_prevalence_range : 1-9 / 1 000 000 Jordan AND has_point_prevalence_average_value : 0.745 AND has_point_prevalence_range : 1-9 / 1 000 000 Kenya AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.495 AND has_point_prevalence_range : 1-9 / 1 000 000 Latvia AND has_point_prevalence_average_value : 0.76 AND has_point_prevalence_range : 1-9 / 1 000 000 Lebanon AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 Lithuania AND has_point_prevalence_average_value : 0.57 AND has_point_prevalence_range : 1-9 / 1 000 000 Luxembourg AND has_point_prevalence_average_value : 0.235 AND has_point_prevalence_range : 1-9 / 1 000 000 Malaysia AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Malta AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000 Mexico AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000 Moldova, Republic of AND has_point_prevalence_average_value : 0.37 AND has_point_prevalence_range : 1-9 / 1 000 000 Mongolia AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Morocco AND has_point_prevalence_average_value : 0.2 AND has_point_prevalence_range : 1-9 / 1 000 000 Nepal AND has_point_prevalence_average_value : 0.065 AND has_point_prevalence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 1.035 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 1.855 AND has_point_prevalence_range : 1-9 / 100 000 Nicaragua AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 Nigeria AND has_point_prevalence_average_value : 0.005 AND has_point_prevalence_range : <1 / 1 000 000 North Macedonia AND has_point_prevalence_average_value : 3.205 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.975 AND has_point_prevalence_range : 1-9 / 100 000 Pakistan AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Palestinian Territory, occupied AND has_point_prevalence_average_value : 0.84 AND has_point_prevalence_range : 1-9 / 1 000 000 Panama AND has_point_prevalence_average_value : 0.585 AND has_point_prevalence_range : 1-9 / 1 000 000 Paraguay AND has_point_prevalence_average_value : 0.375 AND has_point_prevalence_range : 1-9 / 1 000 000 Peru AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Philippines AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Poland AND has_point_prevalence_average_value : 0.85 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.93 AND has_point_prevalence_range : 1-9 / 1 000 000 Qatar AND has_point_prevalence_average_value : 2.265 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_point_prevalence_average_value : 0.76 AND has_point_prevalence_range : 1-9 / 1 000 000 Russian Federation AND has_point_prevalence_average_value : 0.73 AND has_point_prevalence_range : 1-9 / 1 000 000 Saudi Arabia AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Senegal AND has_point_prevalence_average_value : 0.04 AND has_point_prevalence_range : <1 / 1 000 000 Serbia AND has_point_prevalence_average_value : 0.715 AND has_point_prevalence_range : 1-9 / 1 000 000 Sierra leone AND has_point_prevalence_average_value : 0.045 AND has_point_prevalence_range : <1 / 1 000 000 Singapore AND has_point_prevalence_average_value : 0.545 AND has_point_prevalence_range : 1-9 / 1 000 000 Slovakia AND has_point_prevalence_average_value : 1.28 AND has_point_prevalence_range : 1-9 / 100 000 Slovenia AND has_point_prevalence_average_value : 0.82 AND has_point_prevalence_range : 1-9 / 1 000 000 South Africa AND has_point_prevalence_average_value : 0.525 AND has_point_prevalence_range : 1-9 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.765 AND has_point_prevalence_range : 1-9 / 1 000 000 Sri Lanka AND has_point_prevalence_average_value : 0.065 AND has_point_prevalence_range : <1 / 1 000 000 Sudan AND has_point_prevalence_average_value : 0.115 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_average_value : 1.375 AND has_point_prevalence_range : 1-9 / 100 000 Thailand AND has_point_prevalence_average_value : 0.085 AND has_point_prevalence_range : <1 / 1 000 000 Togo AND has_point_prevalence_average_value : 0.02 AND has_point_prevalence_range : <1 / 1 000 000 Tunisia AND has_point_prevalence_average_value : 0.37 AND has_point_prevalence_range : 1-9 / 1 000 000 Turkey AND has_point_prevalence_average_value : 0.31 AND has_point_prevalence_range : 1-9 / 1 000 000 Ukraine AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 2.08 AND has_point_prevalence_range : 1-9 / 100 000 Uruguay AND has_point_prevalence_average_value : 0.36 AND has_point_prevalence_range : 1-9 / 1 000 000 Uzbekistan AND has_point_prevalence_average_value : 0.285 AND has_point_prevalence_range : 1-9 / 1 000 000 Venezuela AND has_point_prevalence_average_value : 1.18 AND has_point_prevalence_range : 1-9 / 100 000 Viet Nam AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.665 AND has_birth_prevalence_range : 1-9 / 100 000 Zimbabwe AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98879 Hemophilia B ORPHA:98879 ICD-10:D67 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:3B11.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D002836 E (Exact mapping: the two concepts are equivalent) MedDRA:10010467 E (Exact mapping: the two concepts are equivalent) OMIM:306900 E (Exact mapping: the two concepts are equivalent) UMLS:C0008533 E (Exact mapping: the two concepts are equivalent) Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. Orphanet ICD-10:D68.2 ICD-11:3B14.0 OMIM:202400 UMLS:C2584774 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98880 Familial afibrinogenemia Clinical subtype ORPHA:98880 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:202400 E (Exact mapping: the two concepts are equivalent) UMLS:C2584774 E (Exact mapping: the two concepts are equivalent) Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. Orphanet ICD-10:D68.2 ICD-11:3B14.0 OMIM:616004 UMLS:C5681639 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98881 Familial dysfibrinogenemia Clinical subtype ORPHA:98881 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:616004 E (Exact mapping: the two concepts are equivalent) UMLS:C5681639 E (Exact mapping: the two concepts are equivalent) ICD-10:D69.8 ICD-11:3B62.Y OMIM:614201 UMLS:C3280120 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98885 Bleeding diathesis due to glycoprotein VI deficiency Etiological subtype ORPHA:98885 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614201 E (Exact mapping: the two concepts are equivalent) UMLS:C3280120 E (Exact mapping: the two concepts are equivalent) ICD-10:D69.8 ICD-11:3B62.Y OMIM:614200 UMLS:C3280114 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency Etiological subtype ORPHA:98886 ICD-10:D69.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B62.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614200 E (Exact mapping: the two concepts are equivalent) UMLS:C3280114 E (Exact mapping: the two concepts are equivalent) Complex X-linked HSP Complex X-linked SPG Complicated X-linked HSP Complicated X-linked SPG X-linked complicated spastic paraplegia UMLS:C5680316 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98888 X-linked complex spastic paraplegia Clinical group ORPHA:98888 UMLS:C5680316 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 ICD-11:LA05.50 OMIM:300388 OMIM:615752 OMIM:616531 UMLS:C1845668 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98889 Bilateral perisylvian polymicrogyria Clinical subtype ORPHA:98889 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300388 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615752 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616531 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1845668 E (Exact mapping: the two concepts are equivalent) Non-Leber type optic atrophy with early-onset OPA2 Optic atrophy type 2 Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. Orphanet ICD-10:H47.2 OMIM:311050 UMLS:C1839576 X-linked recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98890 Early-onset X-linked optic atrophy ORPHA:98890 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:311050 E (Exact mapping: the two concepts are equivalent) UMLS:C1839576 E (Exact mapping: the two concepts are equivalent) PVNH Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. Orphanet ICD-10:Q04.8 ICD-11:LA05.5Y MeSH:D054091 MedDRA:10066854 OMIM:300049 OMIM:608097 OMIM:608098 OMIM:612881 OMIM:615544 OMIM:617201 OMIM:618185 OMIM:618918 UMLS:C1868720 Autosomal dominant Autosomal recessive X-linked dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98892 Periventricular nodular heterotopia Clinical subtype ORPHA:98892 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D054091 E (Exact mapping: the two concepts are equivalent) MedDRA:10066854 E (Exact mapping: the two concepts are equivalent) OMIM:300049 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608097 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608098 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612881 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615544 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617201 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618185 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618918 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1868720 E (Exact mapping: the two concepts are equivalent) CMD1B MDC1B Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. Orphanet ICD-10:G71.2 ICD-11:8C70.6 MeSH:C565748 OMIM:604801 UMLS:C1858118 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98893 Congenital muscular dystrophy type 1B ORPHA:98893 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565748 E (Exact mapping: the two concepts are equivalent) OMIM:604801 E (Exact mapping: the two concepts are equivalent) UMLS:C1858118 E (Exact mapping: the two concepts are equivalent) MDC1D This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital muscular dystrophy due to dystroglycanopathy UMLS:C1837229 Congenital muscular dystrophy type 1D ORPHA:98894 UMLS:C1837229 E (Exact mapping: the two concepts are equivalent) BMD Becker dystrophinopathy A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. Orphanet ICD-10:G71.0 ICD-11:8C70.0 MedDRA:10059117 OMIM:159050 OMIM:300376 UMLS:C0917713 X-linked recessive Adolescent Adult Childhood Elderly Egypt AND has_point_prevalence_average_value : 3.94 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 1.59 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 2.47 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.91 AND has_point_prevalence_range : 1-9 / 1 000 000 Puerto rico AND has_point_prevalence_average_value : 1.42 AND has_point_prevalence_range : 1-9 / 100 000 South Africa AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 2.7 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 3.64 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 1.53 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98895 Becker muscular dystrophy ORPHA:98895 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10059117 E (Exact mapping: the two concepts are equivalent) OMIM:159050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300376 E (Exact mapping: the two concepts are equivalent) UMLS:C0917713 E (Exact mapping: the two concepts are equivalent) DMD Severe dystrophinopathy, Duchenne type A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. Orphanet ICD-10:G71.0 ICD-11:8C70.1 MeSH:D020388 MedDRA:10013801 OMIM:310200 UMLS:C0013264 X-linked recessive Childhood Canada AND has_birth_prevalence_average_value : 10.5 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 2.75 AND has_point_prevalence_range : 1-9 / 100 000 Egypt AND has_lifetime_prevalence_average_value : 7.66 AND has_lifetime_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 4.26 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 3.56 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000 Puerto rico AND has_point_prevalence_average_value : 2.59 AND has_point_prevalence_range : 1-9 / 100 000 South Africa AND has_point_prevalence_average_value : 0.47 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.14 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 9.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98896 Duchenne muscular dystrophy ORPHA:98896 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:8C70.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D020388 E (Exact mapping: the two concepts are equivalent) MedDRA:10013801 E (Exact mapping: the two concepts are equivalent) OMIM:310200 E (Exact mapping: the two concepts are equivalent) UMLS:C0013264 E (Exact mapping: the two concepts are equivalent) OPDM Oculopharyngeal distal myopathy A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. Orphanet ICD-10:G71.0 ICD-11:9C82.1 MeSH:C563508 OMIM:164310 OMIM:618940 OMIM:619473 OMIM:619790 UMLS:C1834014 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98897 Oculopharyngodistal myopathy ORPHA:98897 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563508 E (Exact mapping: the two concepts are equivalent) OMIM:164310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618940 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619473 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619790 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1834014 E (Exact mapping: the two concepts are equivalent) Aglossia-adactylia syndrome Hanhart syndrome Jussieu syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by hypoglossia, micrognathia and variable limb abnormalities. Limb defects can involve any limb (usually all four) and the severity may vary from the absence of distal phalanges to total absence of digits or limbs. Synbrachydactyly may also be present. Patients have problems with speech, swallowing and mastication, and they have additional craniofacial anomalies (including telecanthus, lower eyelid defects, broad nose, microstomia, variable clefting or aberrant attachments of tongue, mandibular hypodontia, cleft palate, cranial nerve palsies, and facial asymmetry). Gingival abnormalities are frequently observed. Intelligence and stature are generally normal. Orphanet ICD-10:Q87.2 ICD-11:LD25.0Y MeSH:C535629 OMIM:103300 UMLS:C0595985 Unknown Antenatal Neonatal Worldwide AND has_cases/families_value : 47.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=989 Hypoglossia-hypodactyly syndrome ORPHA:989 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535629 E (Exact mapping: the two concepts are equivalent) OMIM:103300 E (Exact mapping: the two concepts are equivalent) UMLS:C0595985 E (Exact mapping: the two concepts are equivalent) A type of nemaline myopathy (NM) only observed in several families of the Amish community. Orphanet ICD-10:G71.2 ICD-11:8C72.00 OMIM:605355 UMLS:C1854380 Autosomal recessive Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 200.0 AND has_birth_prevalence_range : >1 / 1000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98902 Amish nemaline myopathy ORPHA:98902 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605355 E (Exact mapping: the two concepts are equivalent) UMLS:C1854380 E (Exact mapping: the two concepts are equivalent) Actin myopathy A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy. Orphanet ICD-10:G71.2 ICD-11:8C72.0Y OMIM:161800 UMLS:C3711389 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98904 Congenital myopathy with excess of thin filaments ORPHA:98904 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:161800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3711389 E (Exact mapping: the two concepts are equivalent) ICD-10:G71.2 ICD-11:8C72.0Y MeSH:C564969 OMIM:255320 UMLS:C1850674 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98905 Congenital multicore myopathy with external ophthalmoplegia Clinical subtype ORPHA:98905 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C564969 E (Exact mapping: the two concepts are equivalent) OMIM:255320 E (Exact mapping: the two concepts are equivalent) UMLS:C1850674 E (Exact mapping: the two concepts are equivalent) CDS Chanarin-Dorfman syndrome DCS Dorfman-Chanarin syndrome NLSDI A form of autosomal recessive neutral lipid storage disease characterized by the accumulation of lipid vacuoles in granulocytes (so-called Jordan's anomaly) and a variety of other cell types. Clinically, the skin symptoms with ichthyosiform erythroderma and scaling are initially in the foreground. Later, steatosis hepatis, hepatomegaly and muscle weakness develop. Other manifestations include growth delay, cataracts, sensorineural hearing loss, intellectual disability and bowel disease. Orphanet ICD-10:E75.5 ICD-11:5C52.2 MeSH:C536560 OMIM:275630 UMLS:C0268238 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98907 Neutral lipid storage disease with ichthyosis ORPHA:98907 ICD-10:E75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536560 E (Exact mapping: the two concepts are equivalent) OMIM:275630 E (Exact mapping: the two concepts are equivalent) UMLS:C0268238 E (Exact mapping: the two concepts are equivalent) Adipose triglyceride lipase deficiency NLSDM Neutral lipid storage disease type M Neutral lipid storage disease with myopathy without ichthyosis A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes. Orphanet ICD-10:E75.5 ICD-11:5C52.2 MeSH:C565192 OMIM:610717 UMLS:C1853136 Autosomal recessive Adult Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98908 Neutral lipid storage disease with myopathy ORPHA:98908 ICD-10:E75.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C52.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565192 E (Exact mapping: the two concepts are equivalent) OMIM:610717 E (Exact mapping: the two concepts are equivalent) UMLS:C1853136 E (Exact mapping: the two concepts are equivalent) Desmin-related myofibrillar myopathy A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure. Orphanet ICD-10:G71.8 MeSH:C563319 OMIM:601419 UMLS:C1832370 Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98909 Desminopathy ORPHA:98909 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563319 E (Exact mapping: the two concepts are equivalent) OMIM:601419 E (Exact mapping: the two concepts are equivalent) UMLS:C1832370 E (Exact mapping: the two concepts are equivalent) CRYAB-related myofobrillar myopathy UMLS:C5680317 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98910 Alpha-crystallinopathy Clinical group ORPHA:98910 UMLS:C5680317 E (Exact mapping: the two concepts are equivalent) A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. Orphanet ICD-10:G71.8 ICD-11:8C76 OMIM:609200 UMLS:C4707358 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98911 Distal myotilinopathy ORPHA:98911 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:609200 E (Exact mapping: the two concepts are equivalent) UMLS:C4707358 E (Exact mapping: the two concepts are equivalent) ZASP-related myofibrillar myopathy A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Orphanet ICD-10:G71.8 MeSH:C563718 OMIM:609452 UMLS:C1836155 Adult Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98912 Late-onset distal myopathy, Markesbery-Griggs type ORPHA:98912 ICD-10:G71.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563718 E (Exact mapping: the two concepts are equivalent) OMIM:609452 E (Exact mapping: the two concepts are equivalent) UMLS:C1836155 E (Exact mapping: the two concepts are equivalent) ICD-10:G70.2 ICD-11:8C61 OMIM:254300 OMIM:601462 OMIM:605809 OMIM:608930 OMIM:608931 OMIM:614198 OMIM:615120 OMIM:616304 OMIM:616313 OMIM:616314 OMIM:616321 OMIM:616322 OMIM:616323 OMIM:616324 OMIM:616325 OMIM:616326 OMIM:616720 UMLS:C0751883 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98913 Postsynaptic congenital myasthenic syndromes Etiological subtype ORPHA:98913 ICD-10:G70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:254300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601462 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605809 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608930 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608931 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614198 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616313 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616314 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616321 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616322 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616323 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616324 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616325 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616326 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616720 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751883 E (Exact mapping: the two concepts are equivalent) ICD-10:G70.2 ICD-11:8C61 OMIM:254210 OMIM:615120 OMIM:616040 OMIM:616330 OMIM:616720 OMIM:617143 OMIM:617239 OMIM:618197 OMIM:618198 OMIM:618323 UMLS:C0751884 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98914 Presynaptic congenital myasthenic syndromes Etiological subtype ORPHA:98914 ICD-10:G70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:254210 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616040 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616330 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616720 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617143 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617239 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618197 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618198 E (Exact mapping: the two concepts are equivalent) OMIM:618323 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0751884 E (Exact mapping: the two concepts are equivalent) ICD-10:G70.2 ICD-11:8C61 OMIM:603034 UMLS:C5681640 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98915 Synaptic congenital myasthenic syndromes Etiological subtype ORPHA:98915 ICD-10:G70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:603034 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681640 E (Exact mapping: the two concepts are equivalent) AIDP Acute idiopathic demyelinating polyneuropathy Acute inflammatory polyneuropathy GBS, acute inflammatory demyelinating polyradiculoneuropathic form Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS). Orphanet ICD-10:G61.0 ICD-11:8C01.0 OMIM:139393 UMLS:C4551910 Multigenic/multifactorial Not applicable All ages Europe AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98916 Acute inflammatory demyelinating polyradiculoneuropathy ORPHA:98916 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:139393 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551910 E (Exact mapping: the two concepts are equivalent) AMSAN Acute motor-sensory axonal GBS Acute motor-sensory axonal Guillain-Barré syndrome A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS). Orphanet ICD-10:G61.0 ICD-11:8C01.0 MedDRA:10076657 UMLS:C3900111 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98917 Acute motor and sensory axonal neuropathy ORPHA:98917 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10076657 E (Exact mapping: the two concepts are equivalent) UMLS:C3900111 E (Exact mapping: the two concepts are equivalent) AMAN Acute pure motor GBS Acute pure motor Guillain-Barré syndrome A rare pure motor axonal form of Guillain-Barré syndrome (GBS). Orphanet ICD-10:G61.0 ICD-11:8C01.0 MedDRA:10076658 UMLS:C3890941 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98918 Acute motor axonal neuropathy ORPHA:98918 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10076658 E (Exact mapping: the two concepts are equivalent) UMLS:C3890941 E (Exact mapping: the two concepts are equivalent) Cranial variant of GBS Cranial variant of Guillain-Barré syndrome Fisher syndrome A rare acquired peripheral neuropathy characterized by acute ophthalmoplegia, ataxia, and areflexia, typically manifesting with diplopia and unsteady gait, and generalized areflexia. Orphanet ICD-10:G61.0 ICD-11:8C01.0 MeSH:D019846 MedDRA:10049567 UMLS:C0393799 Multigenic/multifactorial Not applicable All ages Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98919 Miller Fisher syndrome ORPHA:98919 ICD-10:G61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C01.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D019846 E (Exact mapping: the two concepts are equivalent) MedDRA:10049567 E (Exact mapping: the two concepts are equivalent) UMLS:C0393799 E (Exact mapping: the two concepts are equivalent) Autosomal recessive distal spinal muscular atrophy type 1 Autosomal recessive spinal muscular atrophy with respiratory distress Diaphragmatic spinal muscular atrophy Distal hereditary motor neuropathy type 6 Distal-HMN type 6 SIANRF SMARD1 Severe infantile axonal neuropathy with respiratory failure type 1 dHMN6 dSMA1 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. Orphanet ICD-10:G12.2 ICD-11:8B61.0 MeSH:C536880 OMIM:604320 UMLS:C1858517 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 128.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98920 Spinal muscular atrophy with respiratory distress type 1 ORPHA:98920 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536880 E (Exact mapping: the two concepts are equivalent) OMIM:604320 E (Exact mapping: the two concepts are equivalent) UMLS:C1858517 E (Exact mapping: the two concepts are equivalent) Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development. Orphanet ICD-10:Q03.1 UMLS:C3662124 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98922 Blake pouch cyst ORPHA:98922 ICD-10:Q03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3662124 E (Exact mapping: the two concepts are equivalent) OBSOLETE: MSA-urinary dysfunction syndrome OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple system atrophy OBSOLETE: Shy-Drager syndrome ORPHA:98932 MSA, parkinsonian type MSA-p Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). Orphanet ICD-10:G23.2 ICD-11:8D87.01 UMLS:C5554235 Not applicable Adult Europe AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98933 Multiple system atrophy, parkinsonian type Clinical subtype ORPHA:98933 ICD-10:G23.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:8D87.01 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5554235 E (Exact mapping: the two concepts are equivalent) HDL2 A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). Orphanet ICD-10:G10 ICD-11:8A01.11 MeSH:C564708 OMIM:606438 UMLS:C1847987 Autosomal dominant Adult Worldwide AND has_cases/families_value : 50.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98934 Huntington disease-like 2 ORPHA:98934 ICD-10:G10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A01.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564708 E (Exact mapping: the two concepts are equivalent) OMIM:606438 E (Exact mapping: the two concepts are equivalent) UMLS:C1847987 E (Exact mapping: the two concepts are equivalent) MAC Microphthalmia with colobomatous cyst Microphthalmia-anophthalmia-coloboma syndrome Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Orphanet ICD-10:Q11.2 ICD-11:LA10.0 OMIM:251505 OMIM:300345 OMIM:601186 OMIM:605738 OMIM:610092 OMIM:611638 OMIM:613703 OMIM:614497 OMIM:615145 OMIM:616428 UMLS:C4255043 Autosomal dominant Autosomal recessive Antenatal Neonatal United Kingdom AND has_birth_prevalence_average_value : 19.0 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 19.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98938 Colobomatous microphthalmia ORPHA:98938 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA10.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:251505 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300345 E (Exact mapping: the two concepts are equivalent) OMIM:601186 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:605738 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610092 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611638 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613703 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614497 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615145 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616428 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4255043 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital glaucoma OBSOLETE: Von Hippel anomaly ORPHA:98941 Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated. Orphanet ICD-10:Q14.8 ICD-11:LA13.1 OMIM:120200 UMLS:C4708599 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98942 Coloboma of choroid and retina ORPHA:98942 ICD-10:Q14.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:120200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4708599 E (Exact mapping: the two concepts are equivalent) A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated. Orphanet ICD-10:Q12.2 ICD-11:LA12.0 UMLS:C0344516 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98943 Coloboma of eye lens ORPHA:98943 ICD-10:Q12.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA12.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0344516 E (Exact mapping: the two concepts are equivalent) A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. 'keyhole' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed. Orphanet ICD-10:Q13.0 ICD-11:LA11.4 MedDRA:10052642 OMIM:120200 UMLS:C0266551 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98944 Coloboma of iris ORPHA:98944 ICD-10:Q13.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA11.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10052642 E (Exact mapping: the two concepts are equivalent) OMIM:120200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0266551 E (Exact mapping: the two concepts are equivalent) Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. Orphanet ICD-10:Q14.8 ICD-11:LA13.2 MeSH:C535968 UMLS:C1852767 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98945 Coloboma of macula ORPHA:98945 ICD-10:Q14.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA13.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C535968 E (Exact mapping: the two concepts are equivalent) UMLS:C1852767 E (Exact mapping: the two concepts are equivalent) A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome. Orphanet ICD-10:Q10.3 ICD-11:LA14.00 UMLS:C0521573 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98946 Coloboma of eyelid ORPHA:98946 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA14.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0521573 E (Exact mapping: the two concepts are equivalent) Coloboma of optic papilla Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal). Orphanet ICD-10:Q14.2 ICD-11:LA13.76 UMLS:C0155299 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98947 Coloboma of optic disc ORPHA:98947 ICD-10:Q14.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA13.76 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0155299 E (Exact mapping: the two concepts are equivalent) ICD-10:Q11.2 ICD-11:LA14.01 UMLS:C0152454 Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98948 Congenital symblepharon Clinical subtype ORPHA:98948 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0152454 E (Exact mapping: the two concepts are equivalent) ICD-10:Q11.2 ICD-11:LA14.01 UMLS:C5437887 Antenatal Neonatal Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98949 Complete cryptophthalmia Clinical subtype ORPHA:98949 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5437887 E (Exact mapping: the two concepts are equivalent) ICD-10:Q11.2 ICD-11:LA14.01 UMLS:C5681641 Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98950 Partial cryptophthalmia Clinical subtype ORPHA:98950 ICD-10:Q11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681641 E (Exact mapping: the two concepts are equivalent) Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported. Orphanet ICD-10:Q07.8 ICD-11:9A03.00 UMLS:C5548210 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98951 Inverse Marcus-Gunn phenomenon Clinical subtype ORPHA:98951 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A03.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5548210 E (Exact mapping: the two concepts are equivalent) Juvenile hereditary epithelial dystrophy of Meesmann MECD Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:D053559 OMIM:122100 OMIM:618767 UMLS:C0339277 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98954 Meesmann corneal dystrophy ORPHA:98954 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D053559 E (Exact mapping: the two concepts are equivalent) OMIM:122100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618767 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0339277 E (Exact mapping: the two concepts are equivalent) Band-shaped and whorled microcystic dystrophy of the corneal epithelium LECD Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C567588 OMIM:620763 UMLS:C2749050 X-linked dominant Childhood Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98955 Lisch epithelial corneal dystrophy ORPHA:98955 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567588 E (Exact mapping: the two concepts are equivalent) OMIM:620763 E (Exact mapping: the two concepts are equivalent) UMLS:C2749050 E (Exact mapping: the two concepts are equivalent) Anterior basement membrane dystrophy Cogan microcystic epithelial dystrophy EBMD Map-dot-fingerprint dystrophy A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C535477 OMIM:121820 UMLS:C0521723 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98956 Epithelial basement membrane dystrophy ORPHA:98956 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535477 E (Exact mapping: the two concepts are equivalent) OMIM:121820 E (Exact mapping: the two concepts are equivalent) UMLS:C0521723 E (Exact mapping: the two concepts are equivalent) GDCD Primary familial amyloidosis of the cornea Subepithelial amyloidosis of the cornea Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C535480 OMIM:204870 UMLS:C0339273 Autosomal recessive Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.33 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98957 Gelatinous drop-like corneal dystrophy ORPHA:98957 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535480 E (Exact mapping: the two concepts are equivalent) OMIM:204870 E (Exact mapping: the two concepts are equivalent) UMLS:C0339273 E (Exact mapping: the two concepts are equivalent) Honey-droplet corneal dystrophy A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss. Orphanet ICD-10:H18.4 ICD-11:9A70.Y UMLS:C0339300 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98958 Climatic droplet keratopathy ORPHA:98958 ICD-10:H18.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0339300 E (Exact mapping: the two concepts are equivalent) SMCD Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C567547 OMIM:612867 UMLS:C2748503 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98959 Subepithelial mucinous corneal dystrophy ORPHA:98959 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567547 E (Exact mapping: the two concepts are equivalent) OMIM:612867 E (Exact mapping: the two concepts are equivalent) UMLS:C2748503 E (Exact mapping: the two concepts are equivalent) Anterior limiting membrane dystrophy type 2 Anterior limiting membrane dystrophy type II Corneal dystrophy of Bowman layer type 2 Corneal dystrophy of Bowman layer type II Curly fiber corneal dystrophy Honeycomb corneal dystrophy TBCD Waardenburg-Jonker corneal dystrophy Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C535942 OMIM:602082 UMLS:C1562894 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 173.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98960 Thiel-Behnke corneal dystrophy ORPHA:98960 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535942 E (Exact mapping: the two concepts are equivalent) OMIM:602082 E (Exact mapping: the two concepts are equivalent) UMLS:C1562894 E (Exact mapping: the two concepts are equivalent) Anterior limiting membrane dystrophy type 1 Anterior limiting membrane dystrophy type I Atypical granular corneal dystrophy Corneal dystrophy of Bowman layer type 1 Corneal dystrophy of Bowman layer type I Geographic corneal dystrophy Granular corneal dystrophy type 3 Granular corneal dystrophy type III RBCD Superficial granular corneal dystrophy Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C535476 OMIM:608470 UMLS:C0339278 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 81.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98961 Reis-Bücklers corneal dystrophy ORPHA:98961 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535476 E (Exact mapping: the two concepts are equivalent) OMIM:608470 E (Exact mapping: the two concepts are equivalent) UMLS:C0339278 E (Exact mapping: the two concepts are equivalent) Classic GCD Classic granular corneal dystrophy Corneal dystrophy Groenouw type I GCD1 GCDI Granular corneal dystrophy type 1 Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C537304 OMIM:121900 UMLS:C1641846 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98962 Granular corneal dystrophy type I ORPHA:98962 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C537304 E (Exact mapping: the two concepts are equivalent) OMIM:121900 E (Exact mapping: the two concepts are equivalent) UMLS:C1641846 E (Exact mapping: the two concepts are equivalent) Avellino corneal dystrophy GCD2 GCDII Granular corneal dystrophy type 2 Granular-lattice corneal dystrophy Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C535474 OMIM:607541 UMLS:C1275685 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98963 Granular corneal dystrophy type II ORPHA:98963 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535474 E (Exact mapping: the two concepts are equivalent) OMIM:607541 E (Exact mapping: the two concepts are equivalent) UMLS:C1275685 E (Exact mapping: the two concepts are equivalent) Biber-Haab-Dimmer dystrophy Classic lattice corneal dystrophy LCD1 LCDI Lattice corneal dystrophy type 1 Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C537881 OMIM:122200 OMIM:608471 UMLS:C1690006 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98964 Lattice corneal dystrophy type I ORPHA:98964 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537881 E (Exact mapping: the two concepts are equivalent) OMIM:122200 E (Exact mapping: the two concepts are equivalent) OMIM:608471 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1690006 E (Exact mapping: the two concepts are equivalent) Crystalline stromal dystrophy Hereditary crystalline stromal dystrophy of Schnyder SCCD SCD Schnyder crystalline corneal dystrophy Schnyder crystalline dystrophy sine crystals Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C535475 OMIM:121800 UMLS:C0271287 Autosomal dominant All ages Worldwide AND has_cases/families_value : 115.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98967 Schnyder corneal dystrophy ORPHA:98967 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535475 E (Exact mapping: the two concepts are equivalent) OMIM:121800 E (Exact mapping: the two concepts are equivalent) UMLS:C0271287 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schnyder corneal dystrophy Central discoid corneal dystrophy ORPHA:98968 Corneal dystrophy Groenouw type II Fehr corneal dystrophy MCD Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MedDRA:10025406 OMIM:217800 UMLS:C0024439 Autosomal recessive All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98969 Macular corneal dystrophy ORPHA:98969 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10025406 E (Exact mapping: the two concepts are equivalent) OMIM:217800 E (Exact mapping: the two concepts are equivalent) UMLS:C0024439 E (Exact mapping: the two concepts are equivalent) FCD François-Neetens speckled corneal dystrophy Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C563256 OMIM:121850 UMLS:C1562113 Autosomal dominant All ages Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98970 Fleck corneal dystrophy ORPHA:98970 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563256 E (Exact mapping: the two concepts are equivalent) OMIM:121850 E (Exact mapping: the two concepts are equivalent) UMLS:C1562113 E (Exact mapping: the two concepts are equivalent) PACD Posterior amorphous stromal dystrophy Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C567546 OMIM:612868 UMLS:C2748502 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98971 Posterior amorphous corneal dystrophy ORPHA:98971 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567546 E (Exact mapping: the two concepts are equivalent) OMIM:612868 E (Exact mapping: the two concepts are equivalent) UMLS:C2748502 E (Exact mapping: the two concepts are equivalent) CCDF Central cloudy corneal dystrophy of François Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MeSH:C563262 OMIM:217600 UMLS:C1622427 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98972 Central cloudy dystrophy of François ORPHA:98972 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563262 E (Exact mapping: the two concepts are equivalent) OMIM:217600 E (Exact mapping: the two concepts are equivalent) UMLS:C1622427 E (Exact mapping: the two concepts are equivalent) PPCD Posterior polymorphous dystrophy Schlichting dystrophy A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision. Orphanet ICD-10:H18.5 ICD-11:LA11.5 OMIM:609140 OMIM:609141 OMIM:618031 UMLS:C0339284 Autosomal dominant Childhood Czech Republic AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98973 Posterior polymorphous corneal dystrophy ORPHA:98973 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609140 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609141 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618031 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0339284 E (Exact mapping: the two concepts are equivalent) Endoepithelial corneal dystrophy FECD Late hereditary endothelial dystrophy A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. Orphanet ICD-10:H18.5 ICD-11:9A70.0 MeSH:D005642 OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523 UMLS:C0016781 Autosomal dominant Multigenic/multifactorial Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98974 Fuchs endothelial corneal dystrophy ORPHA:98974 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9A70.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D005642 E (Exact mapping: the two concepts are equivalent) OMIM:136800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610158 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613267 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613268 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613269 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613271 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615523 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0016781 E (Exact mapping: the two concepts are equivalent) Autosomal dominant CHED Autosomal dominant congenital hereditary endothelial dystrophy CHED1 CHEDI Congenital hereditary endothelial dystrophy type 1 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Posterior polymorphous corneal dystrophy ICD-10:H18.5 ICD-11:LA11.5 OMIM:122000 UMLS:C1562945 Congenital hereditary endothelial dystrophy type I ORPHA:98975 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:122000 E (Exact mapping: the two concepts are equivalent) UMLS:C1562945 E (Exact mapping: the two concepts are equivalent) Buphthalmia Buphthalmos Buphthalmus Primary congenital glaucoma A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema. Orphanet ICD-10:Q15.0 ICD-11:9C61.40 OMIM:231300 OMIM:600975 OMIM:613085 OMIM:613086 OMIM:617272 UMLS:C0020302 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Austria AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 5.6 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000 Poland AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98976 Congenital glaucoma ORPHA:98976 ICD-10:Q15.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9C61.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:231300 E (Exact mapping: the two concepts are equivalent) OMIM:600975 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613085 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613086 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617272 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020302 E (Exact mapping: the two concepts are equivalent) A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. Orphanet ICD-10:H40.1 ICD-11:9C61.41 MedDRA:10064032 OMIM:137750 OMIM:231300 OMIM:608695 OMIM:608696 OMIM:610535 OMIM:611274 UMLS:C2981140 Autosomal dominant Adolescent Childhood United States AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98977 Juvenile glaucoma ORPHA:98977 ICD-10:H40.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C61.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064032 E (Exact mapping: the two concepts are equivalent) OMIM:137750 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:231300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:608695 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608696 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610535 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611274 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2981140 E (Exact mapping: the two concepts are equivalent) A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies. Orphanet ICD-10:Q15.0 ICD-11:LA11.2 MedDRA:10058653 OMIM:601631 OMIM:602482 UMLS:C0266548 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98978 Axenfeld anomaly ORPHA:98978 ICD-10:Q15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10058653 E (Exact mapping: the two concepts are equivalent) OMIM:601631 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:602482 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0266548 E (Exact mapping: the two concepts are equivalent) A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. Orphanet ICD-10:H21.2 ICD-11:LA11.Y MedDRA:10057487 UMLS:C0544008 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98979 Chandler syndrome Clinical subtype ORPHA:98979 ICD-10:H21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10057487 E (Exact mapping: the two concepts are equivalent) UMLS:C0544008 E (Exact mapping: the two concepts are equivalent) A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease. Orphanet ICD-10:H21.2 ICD-11:LA11.Y MedDRA:10059200 UMLS:C1168173 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98980 Cogan-Reese syndrome Clinical subtype ORPHA:98980 ICD-10:H21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA11.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10059200 E (Exact mapping: the two concepts are equivalent) UMLS:C1168173 E (Exact mapping: the two concepts are equivalent) A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease. Orphanet ICD-10:H21.2 ICD-11:9A90.2 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98981 Essential iris atrophy Clinical subtype ORPHA:98981 ICD-10:H21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9A90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early-onset non-syndromic cataract OBSOLETE: Congenital cataract, Volkmann type ORPHA:98983 Coppock-like cataract Dusty cataract ICD-10:Q12.0 ICD-11:LA12.1 MeSH:C563426 OMIM:116300 UMLS:C1833118 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98984 Pulverulent cataract Clinical subtype ORPHA:98984 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563426 E (Exact mapping: the two concepts are equivalent) OMIM:116300 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1833118 E (Exact mapping: the two concepts are equivalent) Early-onset cataract with Y-shaped suture opacities ICD-10:Q12.0 ICD-11:LA12.1 MeSH:C565301 OMIM:116100 OMIM:600881 OMIM:605728 UMLS:C1854021 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98985 Early-onset sutural cataract Clinical subtype ORPHA:98985 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565301 E (Exact mapping: the two concepts are equivalent) OMIM:116100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600881 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:605728 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1854021 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Pulverulent cataract OBSOLETE: Coppock-like cataract ORPHA:98986 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early-onset non-syndromic cataract OBSOLETE: Cataract, Hutterite type ORPHA:98987 Early-onset anterior subcapsular cataract ICD-10:Q12.0 ICD-11:LA12.1 MeSH:C538282 OMIM:601202 UMLS:C1855179 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98988 Early-onset anterior polar cataract Clinical subtype ORPHA:98988 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538282 E (Exact mapping: the two concepts are equivalent) OMIM:601202 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1855179 E (Exact mapping: the two concepts are equivalent) Blue-dot cataract A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens. Orphanet ICD-10:Q12.0 ICD-11:LA12.1 MeSH:C537955 OMIM:115660 OMIM:614422 UMLS:C0344523 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98989 Cerulean cataract Clinical subtype ORPHA:98989 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537955 E (Exact mapping: the two concepts are equivalent) OMIM:115660 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614422 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0344523 E (Exact mapping: the two concepts are equivalent) ICD-10:Q12.0 ICD-11:LA12.1 OMIM:115800 UMLS:C1392104 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98990 Coralliform cataract Clinical subtype ORPHA:98990 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:115800 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1392104 E (Exact mapping: the two concepts are equivalent) ICD-10:Q12.0 ICD-11:LA12.1 OMIM:116400 OMIM:600881 OMIM:607304 OMIM:609376 OMIM:610019 OMIM:611391 UMLS:C5681644 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98991 Early-onset nuclear cataract Clinical subtype ORPHA:98991 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:116400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600881 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:607304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610019 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611391 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681644 E (Exact mapping: the two concepts are equivalent) ICD-10:Q12.0 ICD-11:LA12.1 OMIM:115660 OMIM:115800 OMIM:116300 OMIM:116400 OMIM:601202 OMIM:605728 OMIM:607304 OMIM:609376 OMIM:610019 OMIM:613763 OMIM:614422 UMLS:C5681643 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98992 Early-onset partial cataract Clinical subtype ORPHA:98992 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:115660 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:115800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116300 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601202 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605728 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610019 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613763 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614422 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681643 E (Exact mapping: the two concepts are equivalent) ICD-10:Q12.0 ICD-11:LA12.1 OMIM:600881 OMIM:613763 OMIM:619593 UMLS:C0858617 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98993 Early-onset posterior polar cataract Clinical subtype ORPHA:98993 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:600881 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613763 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:619593 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0858617 E (Exact mapping: the two concepts are equivalent) ICD-10:Q12.0 ICD-11:LA12.1 MeSH:C535341 OMIM:601547 OMIM:616509 OMIM:618415 UMLS:C0266539 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98994 Total early-onset cataract Clinical subtype ORPHA:98994 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535341 E (Exact mapping: the two concepts are equivalent) OMIM:601547 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616509 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618415 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0266539 E (Exact mapping: the two concepts are equivalent) ICD-10:Q12.0 ICD-11:LA12.1 MeSH:C535342 OMIM:116400 OMIM:605728 OMIM:607304 OMIM:609376 OMIM:610019 OMIM:613763 UMLS:C5681642 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98995 Early-onset zonular cataract Clinical subtype ORPHA:98995 ICD-10:Q12.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535342 E (Exact mapping: the two concepts are equivalent) OMIM:116400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605728 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607304 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609376 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610019 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613763 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681642 E (Exact mapping: the two concepts are equivalent) ADCA Autosomal dominant spinocerebellar ataxia A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. Orphanet ICD-11:8A03.1Y UMLS:C4087347 Autosomal dominant All ages Europe AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 12.6 AND has_point_prevalence_range : 1-5 / 10 000 Netherlands AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99 Autosomal dominant cerebellar ataxia Category ORPHA:99 ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4087347 E (Exact mapping: the two concepts are equivalent) An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. Orphanet ICD-10:Q87.8 OMIM:202650 UMLS:C4302678 Autosomal dominant Autosomal recessive Not applicable Antenatal Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=990 Agnathia-holoprosencephaly-situs inversus syndrome ORPHA:990 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:202650 E (Exact mapping: the two concepts are equivalent) UMLS:C4302678 E (Exact mapping: the two concepts are equivalent) AOFMD AVMD Adult-onset foveomacular dystrophy Adult-onset foveomacular dystrophy with choroidal neovascularization Adult-onset vitelliform macular dystrophy Gass disease Pseudo-Best disease Pseudo-vitelliform macular dystrophy A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. Orphanet ICD-10:H35.5 ICD-11:9B70 OMIM:153840 OMIM:608161 OMIM:616151 OMIM:616152 UMLS:C1842914 Autosomal dominant Not applicable Adult Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99000 Adult-onset foveomacular vitelliform dystrophy ORPHA:99000 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:153840 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608161 E (Exact mapping: the two concepts are equivalent) OMIM:616151 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616152 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842914 E (Exact mapping: the two concepts are equivalent) Butterfly-shaped pattern dystrophy Butterfly-shaped pigmentary macular dystrophy A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. Orphanet ICD-10:H35.5 ICD-11:9B70 OMIM:169150 OMIM:608970 OMIM:610125 UMLS:C4511237 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99001 Butterfly-shaped pigment dystrophy ORPHA:99001 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:169150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608970 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610125 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4511237 E (Exact mapping: the two concepts are equivalent) A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C566721 OMIM:179840 OMIM:267800 OMIM:617175 UMLS:C1867332 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99002 Reticular dystrophy of the retinal pigment epithelium ORPHA:99002 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566721 E (Exact mapping: the two concepts are equivalent) OMIM:179840 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:267800 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617175 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1867332 E (Exact mapping: the two concepts are equivalent) Multifocal pattern dystrophy simulating Stargardt disease A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. Orphanet ICD-10:H35.5 ICD-11:9B70 UMLS:C4509881 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99003 Multifocal pattern dystrophy simulating fundus flavimaculatus ORPHA:99003 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4509881 E (Exact mapping: the two concepts are equivalent) Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported. Orphanet ICD-10:H35.5 ICD-11:9B70 UMLS:C4749286 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99004 Fundus pulverulentus ORPHA:99004 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4749286 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal recessive isolated optic atrophy OBSOLETE: Autosomal recessive optic atrophy, OPA6 type ORPHA:99012 SPG7 A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, <i>pes cavus</i>, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MeSH:C580457 OMIM:607259 UMLS:C3711370 Autosomal dominant Autosomal recessive Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99013 Spastic paraplegia type 7 ORPHA:99013 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C580457 E (Exact mapping: the two concepts are equivalent) OMIM:607259 E (Exact mapping: the two concepts are equivalent) UMLS:C3711370 E (Exact mapping: the two concepts are equivalent) CMT5X CMTX5 A rare genetic peripheral sensorimotor neuropathy characterized by infancy-to childhood onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. Orphanet ICD-10:G60.0 ICD-11:LD90.Y OMIM:311070 UMLS:C1839566 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99014 X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:311070 E (Exact mapping: the two concepts are equivalent) UMLS:C1839566 E (Exact mapping: the two concepts are equivalent) SPG2 Spastic gait type 2 Spastic paraparesis type 2 X-linked spastic paraplegia type 2 A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. Orphanet ICD-10:G11.4 ICD-11:LD90.Y MeSH:C536857 OMIM:312920 UMLS:C1839264 X-linked recessive Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99015 Spastic paraplegia type 2 ORPHA:99015 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536857 E (Exact mapping: the two concepts are equivalent) OMIM:312920 E (Exact mapping: the two concepts are equivalent) UMLS:C1839264 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Chronic visceral acid sphingomyelinase deficiency OBSOLETE: Niemann-Pick disease type E ORPHA:99022 ADLD Adult-onset autosomal dominant demyelinating leukodystrophy A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. Orphanet ICD-10:E75.2 ICD-11:8A44.1 MeSH:C566813 OMIM:169500 UMLS:C1868512 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99027 Adult-onset autosomal dominant leukodystrophy ORPHA:99027 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566813 E (Exact mapping: the two concepts are equivalent) OMIM:169500 E (Exact mapping: the two concepts are equivalent) UMLS:C1868512 E (Exact mapping: the two concepts are equivalent) Congenitally uncorrected transposition of the great vessels with coarctation TGA with coarctation ICD-10:Q20.3 UMLS:C5680321 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99042 Congenitally uncorrected transposition of the great arteries with coarctation Clinical subtype ORPHA:99042 ICD-10:Q20.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680321 E (Exact mapping: the two concepts are equivalent) DORV with subaortic or doubly committed VSD with pulmonary stenosis DORV, Fallot type Double outlet right ventricle, Fallot type ICD-10:Q20.1 ICD-10:Q21.3 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis Clinical subtype ORPHA:99043 ICD-10:Q20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q21.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Double outlet right ventricle with subaortic or doubly committed ventricular septal defect UMLS:C1956411 Double outlet right ventricle with subaortic ventricular septal defect ORPHA:99044 UMLS:C1956411 E (Exact mapping: the two concepts are equivalent) DORV with subpulmonary VSD DORV-TGA Double outlet right ventricle with transposition of the great arteries Taussig-Bing syndrome ICD-10:Q20.1 ICD-11:LA85.20 UMLS:C1956412 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99045 Double outlet right ventricle with subpulmonary ventricular septal defect Clinical subtype ORPHA:99045 ICD-10:Q20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA85.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C1956412 E (Exact mapping: the two concepts are equivalent) DORV with non-committed subpulmonary VSD ICD-10:Q20.1 ICD-11:LA85.21 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect Clinical subtype ORPHA:99046 ICD-10:Q20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA85.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Double outlet right ventricle with subaortic or doubly committed ventricular septal defect UMLS:C0344644 Double outlet right ventricle with doubly committed ventricular septal defect ORPHA:99047 UMLS:C0344644 E (Exact mapping: the two concepts are equivalent) APV/PDA, non-Fallot type A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present. Orphanet ICD-10:Q22.2 UMLS:C5191313 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome ORPHA:99048 ICD-10:Q22.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191313 E (Exact mapping: the two concepts are equivalent) Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes. Orphanet ICD-10:Q25.7 UMLS:C3163916 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99049 Pulmonary artery coming from patent ductus arteriosus ORPHA:99049 ICD-10:Q25.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3163916 E (Exact mapping: the two concepts are equivalent) Hemitruncus arteriosus Pulmonary artery coming from the aorta A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life. Orphanet ICD-10:Q25.7 UMLS:C5680322 Infancy Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99050 Abnormal origin of right or left pulmonary artery from the aorta ORPHA:99050 ICD-10:Q25.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680322 E (Exact mapping: the two concepts are equivalent) ICD-10:Q24.4 ICD-11:LA8A.5 OMIM:271950 UMLS:C5681646 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99051 Discrete fixed membranous subaortic stenosis Clinical subtype ORPHA:99051 ICD-10:Q24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:271950 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5681646 E (Exact mapping: the two concepts are equivalent) ICD-10:Q24.4 ICD-11:LA8A.5 UMLS:C5681645 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99052 Discrete fibromuscular subaortic stenosis Clinical subtype ORPHA:99052 ICD-10:Q24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681645 E (Exact mapping: the two concepts are equivalent) ICD-10:Q24.4 ICD-11:LA8A.Y UMLS:C5681647 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99053 Tunnel subaortic stenosis Clinical subtype ORPHA:99053 ICD-10:Q24.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681647 E (Exact mapping: the two concepts are equivalent) ICD-10:Q22.1 MeSH:D011666 MedDRA:10037450 UMLS:C1860336 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99054 Valvular pulmonary stenosis Clinical subtype ORPHA:99054 ICD-10:Q22.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D011666 E (Exact mapping: the two concepts are equivalent) MedDRA:10037450 E (Exact mapping: the two concepts are equivalent) UMLS:C1860336 E (Exact mapping: the two concepts are equivalent) Congenital anomaly of tricuspid chordae tendineae Congenital anomaly of tricuspid tendinous chords A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported. Orphanet ICD-10:Q22.8 UMLS:C3165162 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99055 Congenital anomaly of the tricuspid valve chordae ORPHA:99055 ICD-10:Q22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3165162 E (Exact mapping: the two concepts are equivalent) Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations. Orphanet ICD-10:Q22.8 UMLS:C0344755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99056 Parachute tricuspid valve ORPHA:99056 ICD-10:Q22.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0344755 E (Exact mapping: the two concepts are equivalent) Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar components and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure. Orphanet ICD-10:Q23.2 ICD-11:LA87.11 UMLS:C0158618 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99057 Congenital mitral stenosis ORPHA:99057 ICD-10:Q23.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA87.11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0158618 E (Exact mapping: the two concepts are equivalent) A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome. Orphanet ICD-10:Q23.2 ICD-11:LA87.1Y UMLS:C3165203 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99058 Hypoplasia of the mitral valve annulus ORPHA:99058 ICD-10:Q23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3165203 E (Exact mapping: the two concepts are equivalent) Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported. Orphanet ICD-10:Q23.2 ICD-11:LA87.1Y UMLS:C5681648 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99059 Congenital supravalvular mitral ring ORPHA:99059 ICD-10:Q23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681648 E (Exact mapping: the two concepts are equivalent) Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported. Orphanet ICD-10:Q23.3 ICD-11:LA87.1Y UMLS:C0344769 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99060 Congenital unguarded mitral orifice ORPHA:99060 ICD-10:Q23.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344769 E (Exact mapping: the two concepts are equivalent) A rare congenital non-syndromic heart malformation characterized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations. Orphanet ICD-10:Q23.8 ICD-11:LA87.1Y UMLS:C5681649 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99061 Accessory mitral valve tissue ORPHA:99061 ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681649 E (Exact mapping: the two concepts are equivalent) Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation. Orphanet ICD-10:Q23.3 UMLS:C0685721 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99062 Mitral valve agenesis ORPHA:99062 ICD-10:Q23.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0685721 E (Exact mapping: the two concepts are equivalent) Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated. Orphanet ICD-10:Q23.8 ICD-11:LA88.Y MedDRA:10066802 UMLS:C1868705 Adult Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99063 Shone complex ORPHA:99063 ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10066802 E (Exact mapping: the two concepts are equivalent) UMLS:C1868705 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation. Orphanet ICD-10:Q23.8 ICD-11:LA87.1Y UMLS:C5681625 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99064 Straddling and/or overriding mitral valve Clinical subtype ORPHA:99064 ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681625 E (Exact mapping: the two concepts are equivalent) OBSOLETE: CAVC-left heart obstruction syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Complete atrioventricular septal defect OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome ORPHA:99066 CAVC with ventricular hypoplasia Complete AVSD with ventricular hypoplasia Complete atrioventricular canal defect with ventricular hypoplasia Complete atrioventricular septal defect with ventricular imbalance Unbalanced complete atrioventricular canal ICD-10:Q21.2 OMIM:615779 UMLS:C5680290 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99067 Complete atrioventricular septal defect with ventricular hypoplasia Clinical subtype ORPHA:99067 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:615779 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5680290 E (Exact mapping: the two concepts are equivalent) CAVC-tetralogy of Fallot Complete AVSD-tetralogy of Fallot Complete atrioventricular canal defect-tetralogy of Fallot ICD-10:Q21.2 ICD-11:LA87.45 OMIM:615779 UMLS:C3640086 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99068 Complete atrioventricular septal defect-tetralogy of Fallot Clinical subtype ORPHA:99068 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.45 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:615779 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C3640086 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Univentricular heart OBSOLETE: Univentricular heart with single atrio-ventricular valve ORPHA:99069 ICD-10:Q20.8 ICD-11:LA8A.Y UMLS:C0345055 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99070 Aorto-right ventricular tunnel Clinical subtype ORPHA:99070 ICD-10:Q20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0345055 E (Exact mapping: the two concepts are equivalent) ICD-10:Q20.8 ICD-11:LA8A.Y UMLS:C0345054 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99071 Aorto-left ventricular tunnel Clinical subtype ORPHA:99071 ICD-10:Q20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0345054 E (Exact mapping: the two concepts are equivalent) A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported. Orphanet ICD-10:Q25.8 ICD-11:LA8B.Y UMLS:C4706391 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99072 Congenital patent ductus arteriosus aneurysm ORPHA:99072 ICD-10:Q25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8B.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706391 E (Exact mapping: the two concepts are equivalent) Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations. Orphanet ICD-10:Q25.4 ICD-11:LA8B.Y UMLS:C4706940 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99075 Encircling double aortic arch ORPHA:99075 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8B.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4706940 E (Exact mapping: the two concepts are equivalent) A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation. Orphanet ICD-10:Q25.4 ICD-11:LA8B.2Y UMLS:C0345066 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99076 Persistent fifth aortic arch ORPHA:99076 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8B.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0345066 E (Exact mapping: the two concepts are equivalent) Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture. Orphanet ICD-10:Q25.4 ICD-11:LA8B.2Y MedDRA:10081282 UMLS:C0265885 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99077 Kommerell diverticulum ORPHA:99077 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8B.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10081282 E (Exact mapping: the two concepts are equivalent) UMLS:C0265885 E (Exact mapping: the two concepts are equivalent) Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections). Orphanet ICD-10:Q25.4 UMLS:C4707820 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99078 Neuhauser anomaly ORPHA:99078 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707820 E (Exact mapping: the two concepts are equivalent) A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm. Orphanet ICD-10:Q25.4 ICD-11:LA8B.2Y UMLS:C0345065 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99079 Cervical aortic arch ORPHA:99079 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8B.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0345065 E (Exact mapping: the two concepts are equivalent) ICD-10:Q25.4 ICD-11:LA8B.2Y MedDRA:10067407 UMLS:C0035615 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99081 Right aortic arch ORPHA:99081 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8B.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10067407 E (Exact mapping: the two concepts are equivalent) UMLS:C0035615 E (Exact mapping: the two concepts are equivalent) A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections. Orphanet ICD-10:Q25.4 MedDRA:10079869 UMLS:C0267073 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99082 Dysphagia lusoria ORPHA:99082 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10079869 E (Exact mapping: the two concepts are equivalent) UMLS:C0267073 E (Exact mapping: the two concepts are equivalent) PAH Unilateral Pulmonary Artery Hypoplasia A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. Orphanet ICD-10:Q25.7 ICD-11:LA8B.1 UMLS:C0265910 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99083 Pulmonary artery hypoplasia ORPHA:99083 ICD-10:Q25.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8B.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265910 E (Exact mapping: the two concepts are equivalent) Branch pulmonary artery stenosis Pulmonary branch stenosis Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms. Orphanet ICD-10:Q25.6 ICD-11:LA8B.1 UMLS:C3531782 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99084 Peripheral pulmonary stenosis ORPHA:99084 ICD-10:Q25.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8B.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C3531782 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Anomalous aortic origin of coronary artery OBSOLETE: Coronary artery intramyocardial course ORPHA:99085 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Anomalous aortic origin of coronary artery OBSOLETE: Aortopulmonary coronary arterial course ORPHA:99086 COSA Congenital coronary arterial orifice stenosis or atresia Congenital stenosis or atresia of a coronary ostium A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death. Orphanet ICD-10:Q24.5 ICD-11:LA86.Y UMLS:C5575847 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99087 Coronary ostial stenosis or atresia ORPHA:99087 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5575847 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Anomalous aortic origin of coronary artery OBSOLETE: Intramural coronary arterial course ORPHA:99088 A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography. Orphanet ICD-10:Q24.5 UMLS:C5191081 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99089 Abnormal number of coronary ostia ORPHA:99089 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5191081 E (Exact mapping: the two concepts are equivalent) A rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery. Orphanet ICD-10:Q24.5 UMLS:C3532077 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99090 Malposition of a coronary ostium ORPHA:99090 ICD-10:Q24.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3532077 E (Exact mapping: the two concepts are equivalent) Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. Orphanet ICD-10:Q21.0 MeSH:C563239 OMIM:105805 UMLS:C1387721 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99092 Interventricular septum aneurysm ORPHA:99092 ICD-10:Q21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C563239 E (Exact mapping: the two concepts are equivalent) OMIM:105805 E (Exact mapping: the two concepts are equivalent) UMLS:C1387721 E (Exact mapping: the two concepts are equivalent) VSD with aortic insufficiency Ventricular septal defect with aortic insufficiency Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance. Orphanet ICD-10:Q21.0 UMLS:C4707235 Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99094 Laubry-Pezzi syndrome ORPHA:99094 ICD-10:Q21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707235 E (Exact mapping: the two concepts are equivalent) Left ventricular-to-right atrial communication A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated. Orphanet ICD-10:Q21.0 UMLS:C0344947 Infancy Neonatal Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99095 Congenital Gerbode defect ORPHA:99095 ICD-10:Q21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0344947 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare congenital anomaly of ventricular septum OBSOLETE: Multiple ventricular septal defects ORPHA:99096 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare congenital anomaly of ventricular septum OBSOLETE: Single ventricular septal defect ORPHA:99097 Cor triatriatum dextrum Divided right atrium A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend on the degree of right atrial septation and the size of sinoatrial orifice and vary from asymptomatic to symptoms of tricuspid valve stenosis, atrial fibrillation, cyanosis, syncope, elevated central venous pressure and right heart failure. The anomaly may be isolated or associated with other congenital heart anomalies. Orphanet ICD-10:Q24.2 ICD-11:LA8F UMLS:C0344697 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99098 Cor triatriatum dexter ORPHA:99098 ICD-10:Q24.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8F - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344697 E (Exact mapping: the two concepts are equivalent) Cor triatriatum sinistrum Divided left atrium A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins and the lower chamber is attached to the left atrial appendage. Therefore, the membrane blocks the orifice of the mitral valve and leads to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies. Orphanet ICD-10:Q24.2 ICD-11:LA8G.0 UMLS:C0344712 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99099 Cor triatriatum sinister ORPHA:99099 ICD-10:Q24.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8G.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0344712 E (Exact mapping: the two concepts are equivalent) Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Orphanet ICD-10:Q87.8 OMIM:202660 UMLS:C1859967 Not applicable Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=991 PAGOD syndrome ORPHA:991 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:202660 E (Exact mapping: the two concepts are equivalent) UMLS:C1859967 E (Exact mapping: the two concepts are equivalent) Juxtaposition of the atrial auricles Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases. Orphanet ICD-10:Q20.8 ICD-11:LA8F UMLS:C1290478 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99100 Juxtaposition of the atrial appendages ORPHA:99100 ICD-10:Q20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8F - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1290478 E (Exact mapping: the two concepts are equivalent) Dilatation of the right atrial appendage Dilatation of the right atrial auricle Ectasia of the right atrial auricle Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. Orphanet ICD-10:Q20.8 UMLS:C4749283 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99101 Ectasia of the right atrial appendage ORPHA:99101 ICD-10:Q20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749283 E (Exact mapping: the two concepts are equivalent) Dilatation of the left atrial appendage Dilatation of the left auricle Ectasia of the left auricle Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. Orphanet ICD-10:Q20.8 UMLS:C4749282 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99102 Ectasia of the left atrial appendage ORPHA:99102 ICD-10:Q20.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749282 E (Exact mapping: the two concepts are equivalent) ASD, ostium secundum type ICD-10:Q21.1 ICD-11:LA8E.1 MedDRA:10031303 OMIM:611363 OMIM:614089 OMIM:614430 UMLS:C0344724 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99103 Atrial septal defect, ostium secundum type Clinical subtype ORPHA:99103 ICD-10:Q21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8E.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10031303 E (Exact mapping: the two concepts are equivalent) OMIM:611363 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614089 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614430 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0344724 E (Exact mapping: the two concepts are equivalent) ASD, coronary sinus type Unroofed coronary sinus ICD-10:Q21.1 ICD-11:LA8E.3 UMLS:C0344733 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99104 Atrial septal defect, coronary sinus type Clinical subtype ORPHA:99104 ICD-10:Q21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8E.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0344733 E (Exact mapping: the two concepts are equivalent) ASD, sinus venosus type ICD-10:Q21.1 ICD-11:LA8E.2 MeSH:C548009 UMLS:C0344730 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99105 Atrial septal defect, sinus venosus type Clinical subtype ORPHA:99105 ICD-10:Q21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8E.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C548009 E (Exact mapping: the two concepts are equivalent) UMLS:C0344730 E (Exact mapping: the two concepts are equivalent) ASD, ostium primum type ICD-10:Q21.2 ICD-11:LA87.40 MeSH:C548006 UMLS:C5680294 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99106 Atrial septal defect, ostium primum type Clinical subtype ORPHA:99106 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA87.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C548006 E (Exact mapping: the two concepts are equivalent) UMLS:C5680294 E (Exact mapping: the two concepts are equivalent) A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke. Orphanet ICD-10:Q21.1 ICD-11:LA8E.Y UMLS:C0521533 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99107 Atrial septal aneurysm ORPHA:99107 ICD-10:Q21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8E.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0521533 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Patent foramen ovale ORPHA:99108 Persistent left SVC connecting through coronary sinus to left-sided atrium A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolism may be associated. Orphanet ICD-10:Q26.1 UMLS:C5680293 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium ORPHA:99109 ICD-10:Q26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680293 E (Exact mapping: the two concepts are equivalent) Right SVC connecting to left-sided atrium Right superior caval vein connecting to left-sided atrium A rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported. Orphanet ICD-10:Q26.8 UMLS:C0344658 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99110 Right superior vena cava connecting to left-sided atrium ORPHA:99110 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0344658 E (Exact mapping: the two concepts are equivalent) Persistent left SVC connecting to left-sided atrium Persistent left SVC connecting to the roof of left-sided atrium Persistent left superior vena cava connecting to left-sided atrium A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure. Orphanet ICD-10:Q26.1 UMLS:C5680292 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99111 Persistent left superior vena cava connecting to the roof of left-sided atrium ORPHA:99111 ICD-10:Q26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680292 E (Exact mapping: the two concepts are equivalent) Absence of brachiocephalic vein A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. Orphanet ICD-10:Q26.8 UMLS:C4707656 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99112 Absence of innominate vein ORPHA:99112 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707656 E (Exact mapping: the two concepts are equivalent) Subaortic course of brachiocephalic vein Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated. Orphanet ICD-10:Q26.8 UMLS:C4707821 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99113 Subaortic course of innominate vein ORPHA:99113 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4707821 E (Exact mapping: the two concepts are equivalent) Absence of the SVC Absence of the superior caval vein Absence of the superior vena cava Agenesis of the SVC Agenesis of the superior caval vein A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome. Orphanet ICD-10:Q26.8 ICD-11:LA86.Y UMLS:C0265929 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99114 Agenesis of the superior vena cava ORPHA:99114 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265929 E (Exact mapping: the two concepts are equivalent) A rare congenital anomaly of the coronary sinus characterized by its stenosis at the ostium, lumen, or origin, typically leading to dilation of the vessel. Symptoms are variable and can include palpitations, tachypnea, dyspnea, chest pain, fatigue, and cyanosis. The malformation may be associated with other cardiac anomalies, such as coronary artery-coronary sinus fistula, unroofed coronary sinus, atrial septal defect, coronary sinus-left atrium fistula, total anomalous pulmonary venous connection, and ventricular septal defect. Orphanet ICD-10:Q21.1 ICD-11:LA86.Y UMLS:C0344684 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99117 Coronary sinus stenosis ORPHA:99117 ICD-10:Q21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA86.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344684 E (Exact mapping: the two concepts are equivalent) ICD-10:Q21.1 ICD-11:LA86.Y UMLS:C0344683 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99118 Coronary sinus atresia ORPHA:99118 ICD-10:Q21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA86.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0344683 E (Exact mapping: the two concepts are equivalent) Right IVC connecting to left-sided atrium Right inferior caval vein connecting to left-sided atrium A rare vascular anomaly characterized by a congenital anomalous connection between the inferior vena cava and the left atrium. Clinical manifestations depend on the presence and nature of additional cardiac defects and include cyanosis, dyspnea, failure to thrive, clubbing of fingers and toes, and potentially heart failure. Orphanet ICD-10:Q26.8 UMLS:C3164330 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99119 Right inferior vena cava connecting to left-sided atrium ORPHA:99119 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3164330 E (Exact mapping: the two concepts are equivalent) A rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt. Orphanet ICD-10:Q26.8 UMLS:C5190784 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99120 Persistent eustachian valve ORPHA:99120 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5190784 E (Exact mapping: the two concepts are equivalent) Azygos continuation of the IVC Azygos continuation of the inferior caval vein Inferior vena cava interruption with azygos continuation A rare vascular anomaly characterized by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported. Orphanet ICD-10:Q26.8 ICD-11:LA86.Y UMLS:C1859772 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99121 Azygos continuation of the inferior vena cava ORPHA:99121 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1859772 E (Exact mapping: the two concepts are equivalent) Congenital stenosis of the IVC Congenital stenosis of the inferior caval vein A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings. Orphanet ICD-10:Q26.0 ICD-11:LA86.Y UMLS:C0265934 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99122 Congenital stenosis of the inferior vena cava ORPHA:99122 ICD-10:Q26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0265934 E (Exact mapping: the two concepts are equivalent) IVC interruption Inferior caval vein interruption A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present. Orphanet ICD-10:Q26.8 UMLS:C5680291 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99123 Inferior vena cava interruption without azygos continuation ORPHA:99123 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680291 E (Exact mapping: the two concepts are equivalent) A form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea. Orphanet ICD-10:Q26.3 ICD-11:LA86.21 UMLS:C0158634 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99124 Congenital partial pulmonary venous return anomaly ORPHA:99124 ICD-10:Q26.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA86.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0158634 E (Exact mapping: the two concepts are equivalent) A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. Orphanet ICD-10:Q26.2 ICD-11:LA86.20 MeSH:D012587 OMIM:106700 UMLS:C5681626 Not applicable Neonatal United States AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99125 Congenital total pulmonary venous return anomaly ORPHA:99125 ICD-10:Q26.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA86.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D012587 E (Exact mapping: the two concepts are equivalent) OMIM:106700 E (Exact mapping: the two concepts are equivalent) UMLS:C5681626 E (Exact mapping: the two concepts are equivalent) CPVA Congenital PVA ICD-10:Q26.8 ICD-11:LA86.Y https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99126 Congenital pulmonary vein atresia ORPHA:99126 ICD-10:Q26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA86.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy. Orphanet ICD-10:Q24.8 ICD-11:LA8D UMLS:C0345140 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99129 Congenital complete agenesis of pericardium ORPHA:99129 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0345140 E (Exact mapping: the two concepts are equivalent) Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare. Orphanet ICD-10:Q24.8 ICD-11:LA8D UMLS:C0345139 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99130 Congenital partial agenesis of pericardium ORPHA:99130 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0345139 E (Exact mapping: the two concepts are equivalent) Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur. Orphanet ICD-10:Q24.8 ICD-11:LA8D UMLS:C5681627 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99131 Pleuro-pericardial cyst ORPHA:99131 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8D - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681627 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary stomatocytosis OBSOLETE: Intermediate stomatocytosis syndrome ORPHA:99134 A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice. Orphanet ICD-10:D55.1 ICD-11:3A10.0Y OMIM:619199 UMLS:C5543091 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99135 6-phosphogluconate dehydrogenase deficiency ORPHA:99135 ICD-10:D55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:619199 E (Exact mapping: the two concepts are equivalent) UMLS:C5543091 E (Exact mapping: the two concepts are equivalent) Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. Orphanet ICD-10:D55.3 ICD-11:3A10.1 UMLS:C0340960 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction ORPHA:99138 ICD-10:D55.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0340960 E (Exact mapping: the two concepts are equivalent) A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia. Orphanet ICD-10:D58.2 ICD-11:3A51.Y UMLS:C0272006 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99139 Unstable hemoglobin disease ORPHA:99139 ICD-10:D58.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0272006 E (Exact mapping: the two concepts are equivalent) A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. Orphanet ICD-10:Q82.0 OMIM:613611 UMLS:C3150875 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99141 Lymphedema-posterior choanal atresia syndrome ORPHA:99141 ICD-10:Q82.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:613611 E (Exact mapping: the two concepts are equivalent) UMLS:C3150875 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome Microcephaly-cutis verticis gyrata-lymphedema syndrome ORPHA:99142 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome ORPHA:99143 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare hemorrhagic disorder due to a platelet anomaly OBSOLETE: Platelet function disease associated with renal insufficiency ORPHA:99146 Acquired von Willebrand disease A rare bleeding disorder characterized by defects in von Willebrand factor, similar to those seen in hereditary von Willebrand disease (VWD), but which are caused by an underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. Orphanet ICD-10:D68.4 ICD-11:3B2Y MedDRA:10069495 UMLS:C0272362 Not applicable Adult Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99147 Acquired von Willebrand syndrome ORPHA:99147 ICD-10:D68.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10069495 E (Exact mapping: the two concepts are equivalent) UMLS:C0272362 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging ORPHA:99151 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial combined hyperlipoproteinemia ORPHA:99166 A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids. Orphanet ICD-10:Q10.3 ICD-11:LA14.0Y MedDRA:10056531 UMLS:C0344503 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99169 Epiblepharon ORPHA:99169 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LA14.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10056531 E (Exact mapping: the two concepts are equivalent) UMLS:C0344503 E (Exact mapping: the two concepts are equivalent) Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery. Orphanet ICD-10:Q10.3 UMLS:C5681629 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99170 Tarsal kink syndrome ORPHA:99170 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681629 E (Exact mapping: the two concepts are equivalent) Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases. Orphanet ICD-10:Q10.1 ICD-11:LA14.03 UMLS:C5681630 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99171 Isolated congenital ectropion ORPHA:99171 ICD-10:Q10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA14.03 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681630 E (Exact mapping: the two concepts are equivalent) Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment. Orphanet ICD-10:Q10.1 ICD-11:LA14.0Y UMLS:C1303001 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99172 Euryblepharon ORPHA:99172 ICD-10:Q10.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1303001 E (Exact mapping: the two concepts are equivalent) Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. Orphanet ICD-10:Q10.3 ICD-11:LA14.05 UMLS:C4274470 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99176 Congenital eyelid retraction ORPHA:99176 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.05 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4274470 E (Exact mapping: the two concepts are equivalent) Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated. Orphanet ICD-10:Q10.3 ICD-11:LA14.0Y MedDRA:10066128 OMIM:126300 UMLS:C0423848 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99177 Isolated distichiasis ORPHA:99177 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10066128 E (Exact mapping: the two concepts are equivalent) OMIM:126300 E (Exact mapping: the two concepts are equivalent) UMLS:C0423848 E (Exact mapping: the two concepts are equivalent) Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. Orphanet ICD-10:H35.5 ICD-11:9B70 MeSH:C562701 OMIM:228990 UMLS:C0271257 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99179 Kandori fleck retina ORPHA:99179 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C562701 E (Exact mapping: the two concepts are equivalent) OMIM:228990 E (Exact mapping: the two concepts are equivalent) UMLS:C0271257 E (Exact mapping: the two concepts are equivalent) ICD-10:Q96.9 ICD-11:LD50.00 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99226 Monosomy X syndrome Etiological subtype ORPHA:99226 ICD-10:Q96.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:LD50.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q96.3 ICD-10:Q96.4 ICD-11:LD50.03 ICD-11:LD50.04 UMLS:C5681628 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99228 Mosaic monosomy X syndrome Etiological subtype ORPHA:99228 ICD-10:Q96.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD50.03 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD50.04 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681628 E (Exact mapping: the two concepts are equivalent) UPD(13)pat Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Orphanet ICD-10:Q99.8 ICD-11:LD45.1 UMLS:C4722326 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99324 Paternal uniparental disomy of chromosome 13 syndrome ORPHA:99324 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD45.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4722326 E (Exact mapping: the two concepts are equivalent) A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. Orphanet ICD-10:Q98.8 UMLS:C4518082 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99329 48,XYYY syndrome ORPHA:99329 ICD-10:Q98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518082 E (Exact mapping: the two concepts are equivalent) A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. Orphanet ICD-10:Q98.8 UMLS:C4518342 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99330 49,XYYYY syndrome ORPHA:99330 ICD-10:Q98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4518342 E (Exact mapping: the two concepts are equivalent) Familial MTC A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. In rare cases, the tumor can also cause Cushing syndrome due to ectopic corticotropin production. Orphanet ICD-10:C73 MeSH:C536911 MedDRA:10073153 OMIM:155240 UMLS:C1833921 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99361 Familial medullary thyroid carcinoma ORPHA:99361 ICD-10:C73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C536911 E (Exact mapping: the two concepts are equivalent) MedDRA:10073153 E (Exact mapping: the two concepts are equivalent) OMIM:155240 E (Exact mapping: the two concepts are equivalent) UMLS:C1833921 E (Exact mapping: the two concepts are equivalent) Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome FADS Pena-Shokeir syndrome type 1 The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MeSH:C536647 OMIM:208150 OMIM:300073 OMIM:618388 OMIM:618389 OMIM:618393 OMIM:618975 UMLS:C1276035 Autosomal recessive Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=994 Fetal akinesia deformation sequence ORPHA:994 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536647 E (Exact mapping: the two concepts are equivalent) OMIM:208150 E (Exact mapping: the two concepts are equivalent) OMIM:300073 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618388 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618389 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618393 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618975 ND (not yet decided/unable to decide: the alignment cannot be qualified by any of the existing labels) UMLS:C1276035 E (Exact mapping: the two concepts are equivalent) ICD-10:D35.2 MedDRA:10035079 UMLS:C0032000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99408 Pituitary adenoma Clinical group ORPHA:99408 ICD-10:D35.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10035079 E (Exact mapping: the two concepts are equivalent) UMLS:C0032000 E (Exact mapping: the two concepts are equivalent) ICD-10:Q96.1 ICD-10:Q96.2 ICD-11:LD50.01 ICD-11:LD50.02 UMLS:C5681631 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99413 Turner syndrome due to structural X chromosome anomalies Etiological subtype ORPHA:99413 ICD-10:Q96.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q96.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD50.01 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD50.02 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681631 E (Exact mapping: the two concepts are equivalent) CAIS Complete androgen resistance syndrome Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. Orphanet ICD-10:E34.5 ICD-11:LD2A.4 OMIM:300068 UMLS:C0936016 X-linked recessive All ages Europe AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 0.83 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99429 Complete androgen insensitivity syndrome ORPHA:99429 ICD-10:E34.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2A.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300068 E (Exact mapping: the two concepts are equivalent) UMLS:C0936016 E (Exact mapping: the two concepts are equivalent) Holmes-Benacerraf syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Fetal akinesia deformation sequence UMLS:C1848171 X-linked fetal akinesia syndrome ORPHA:995 UMLS:C1848171 E (Exact mapping: the two concepts are equivalent) Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 OMIM:613343 UMLS:C3150545 Adolescent Adult Childhood Worldwide AND has_cases/families_value : 234.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99642 Spondyloepimetaphyseal dysplasia, Handigodu type ORPHA:99642 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:613343 E (Exact mapping: the two concepts are equivalent) UMLS:C3150545 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Greenberg dysplasia UMLS:C1300227 Dappled diaphyseal dysplasia ORPHA:99645 UMLS:C1300227 E (Exact mapping: the two concepts are equivalent) MC-HGA Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Orphanet ICD-10:Q78.8 ICD-11:LD24.2Y OMIM:614875 UMLS:C3553958 Not applicable Childhood Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria ORPHA:99646 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614875 E (Exact mapping: the two concepts are equivalent) UMLS:C3553958 E (Exact mapping: the two concepts are equivalent) Enchondromatosis Spranger, type VI Generalized enchondromatosis with platyspondyly This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria UMLS:C4510810 Cheirospondyloenchondromatosis ORPHA:99647 UMLS:C4510810 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic cardiac rhythm disease OBSOLETE: Non-progressive congenital heart block ORPHA:99648 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Thinking seizures OBSOLETE: Generalized epilepsy and praxis-induced seizures ORPHA:99649 OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy ORPHA:99650 OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder ORPHA:99651 OBSOLETE: FCPD OBSOLETE: Fibrocalculous pancreatic diabetes OBSOLETE: Tropical pancreatic diabetes This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Tropical pancreatitis OBSOLETE: Fibrocalculous pancreatopathy ORPHA:99654 DYT2 A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall. Orphanet ICD-10:G24.1 ICD-11:8A02.0Y MeSH:C538006 OMIM:224500 UMLS:C1857093 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99657 Primary dystonia, DYT2 type ORPHA:99657 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538006 E (Exact mapping: the two concepts are equivalent) OMIM:224500 E (Exact mapping: the two concepts are equivalent) UMLS:C1857093 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare tumor of neuroepithelial tissue OBSOLETE: Posterior fossa tumors ORPHA:99662 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Adult-onset cervical dystonia, DYT23 type OBSOLETE: Vestibular torticollis ORPHA:99663 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital trochlear nerve palsy OBSOLETE: Trochlear nerve palsy ORPHA:99664 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Ventral hernia ORPHA:99665 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital joint dislocations OBSOLETE: Atlantoaxial subluxation ORPHA:99666 A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement. Orphanet ICD-10:Q82.4 OMIM:602401 UMLS:C0406715 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99672 Fried's tooth and nail syndrome ORPHA:99672 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:602401 E (Exact mapping: the two concepts are equivalent) UMLS:C0406715 E (Exact mapping: the two concepts are equivalent) A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q82.4 UMLS:C0795919 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99688 Dermotrichic syndrome ORPHA:99688 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C0795919 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome ORPHA:99694 HS-MTLE Hippocampal sclerosis-related mesial temporal lobe epilepsy MTLE-HS Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits. Orphanet ICD-10:G40.0 UMLS:C4749367 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99701 Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4749367 E (Exact mapping: the two concepts are equivalent) OBHD A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases. Orphanet ICD-10:E66.8 UMLS:C3151303 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704 ICD-10:E66.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C3151303 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Laminopathy with premature aging OBSOLETE: Progeria-associated arthropathy ORPHA:99706 A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:L85.8 UMLS:C5681635 Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99710 Punctate acrokeratoderma freckle-like pigmentation ORPHA:99710 ICD-10:L85.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681635 E (Exact mapping: the two concepts are equivalent) Mitral valve-aorta-skeleton-skin syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Marfan syndrome type 1 MeSH:C536030 OMIM:604308 MASS syndrome ORPHA:99715 MeSH:C536030 E (Exact mapping: the two concepts are equivalent) OMIM:604308 E (Exact mapping: the two concepts are equivalent) LHON plus disease A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias. Orphanet ICD-10:H47.2 ICD-11:8C73.Y OMIM:165200 OMIM:500001 UMLS:C4304725 Mitochondrial inheritance Adolescent Adult Childhood Infancy Europe AND has_point_prevalence_average_value : 0.04 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99718 Leber plus disease ORPHA:99718 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:165200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:500001 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4304725 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic achalasia OBSOLETE: Sporadic achalasia ORPHA:99722 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic achalasia OBSOLETE: Familial esophageal achalasia ORPHA:99723 Hypophyseal gigantism Infantile and juvenile forms of acromegaly A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet. Orphanet ICD-10:E22.0 ICD-11:5A60.0 MeSH:D005877 MedDRA:10018265 OMIM:102200 UMLS:C0017547 Autosomal dominant X-linked dominant Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99725 Pituitary gigantism ORPHA:99725 ICD-10:E22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D005877 E (Exact mapping: the two concepts are equivalent) MedDRA:10018265 E (Exact mapping: the two concepts are equivalent) OMIM:102200 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0017547 E (Exact mapping: the two concepts are equivalent) ISOD Sulfocysteinuria ICD-10:E72.1 ICD-11:5C50.B MeSH:C538141 OMIM:272300 Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99731 Isolated sulfite oxidase deficiency Clinical subtype ORPHA:99731 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538141 E (Exact mapping: the two concepts are equivalent) OMIM:272300 E (Exact mapping: the two concepts are equivalent) Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase MOCOD ICD-10:E72.1 ICD-11:5C50.B MeSH:C535811 OMIM:252150 OMIM:252160 OMIM:615501 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency Clinical subtype ORPHA:99732 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.B - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535811 E (Exact mapping: the two concepts are equivalent) OMIM:252150 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252160 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615501 BTNT (ORPHAcode is broader than the targeted code used to represent it) Exercise-induced delayed-onset myotonia Fluctuating myotonia A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Orphanet ICD-10:G71.1 ICD-11:8C71.2 OMIM:608390 UMLS:C0752355 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99734 Myotonia fluctuans ORPHA:99734 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608390 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0752355 E (Exact mapping: the two concepts are equivalent) A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM). Orphanet ICD-10:G71.1 ICD-11:8C71.2 OMIM:608390 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99735 Myotonia permanens ORPHA:99735 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608390 NTBT (ORPHAcode is narrower than the targeted code used to represent it) ACZ-responsive congenital myotonia ACZ-responsive myotonia Acetazolamide-responsive congenital myotonia Myotonia-painful contractions syndrome Painful congenital myotonia Painful myotonia A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ). Orphanet ICD-10:G71.1 ICD-11:8C71.2 OMIM:608390 UMLS:C4275008 Autosomal dominant Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99736 Acetazolamide-responsive myotonia ORPHA:99736 ICD-10:G71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608390 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4275008 E (Exact mapping: the two concepts are equivalent) Rare familial disorder with hypertrophic obstructive cardiomyopathy Rare familial disorder with hypertrophic subaortic stenosis MeSH:D024741 UMLS:C5680311 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99739 Rare familial disorder with hypertrophic cardiomyopathy Category ORPHA:99739 MeSH:D024741 E (Exact mapping: the two concepts are equivalent) UMLS:C5680311 E (Exact mapping: the two concepts are equivalent) Koussef-Nichols syndrome King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. Orphanet ICD-10:G71.2 ICD-11:8C72.Y MeSH:C536883 OMIM:619542 UMLS:C1840365 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99741 King-Denborough syndrome ORPHA:99741 ICD-10:G71.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C72.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536883 E (Exact mapping: the two concepts are equivalent) OMIM:619542 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1840365 E (Exact mapping: the two concepts are equivalent) A very rare syndrome characterized by extreme microcephaly and early death, within the first year. Orphanet ICD-10:Q02 ICD-11:LA05.0 MeSH:C538247 OMIM:607196 UMLS:C1846648 Autosomal recessive Infancy Neonatal Specific population AND has_birth_prevalence_average_value : 200.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99742 Amish lethal microcephaly ORPHA:99742 ICD-10:Q02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538247 E (Exact mapping: the two concepts are equivalent) OMIM:607196 E (Exact mapping: the two concepts are equivalent) UMLS:C1846648 E (Exact mapping: the two concepts are equivalent) Typhoid fever Typhoidal salmonellosis Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria <i>Salmonella typhi</i> and characterized by a non-focal fever. Orphanet ICD-10:A01.0 ICD-11:1A07 MeSH:D014435 UMLS:C0041466 Not applicable All ages Africa AND has_annual_incidence_average_value : 50.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Latin America AND has_annual_incidence_average_value : 53.0 AND has_annual_incidence_range : 1-5 / 10 000 North America AND has_annual_incidence_range : 1-9 / 1 000 000 Oceania AND has_annual_incidence_average_value : 15.0 AND has_annual_incidence_range : 1-5 / 10 000 South East Asia AND has_annual_incidence_average_value : 274.0 AND has_annual_incidence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99745 Typhoid ORPHA:99745 ICD-10:A01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A07 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D014435 E (Exact mapping: the two concepts are equivalent) UMLS:C0041466 E (Exact mapping: the two concepts are equivalent) Non-pneumonic Legionnaires' disease Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. Orphanet ICD-10:A48.2 ICD-11:1C19.0 MedDRA:10054161 UMLS:C0343528 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99748 Pontiac fever ORPHA:99748 ICD-10:A48.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C19.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10054161 E (Exact mapping: the two concepts are equivalent) UMLS:C0343528 E (Exact mapping: the two concepts are equivalent) Infantile agranulocytosis Severe congenital neutropenia type 3 Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. Orphanet ICD-10:D70 ICD-11:4B00.00 MeSH:C537592 OMIM:610738 UMLS:C5235141 Autosomal recessive Neonatal Brazil AND has_annual_incidence_average_value : 0.0425 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 45.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99749 Kostmann syndrome ORPHA:99749 ICD-10:D70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4B00.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537592 E (Exact mapping: the two concepts are equivalent) OMIM:610738 E (Exact mapping: the two concepts are equivalent) UMLS:C5235141 E (Exact mapping: the two concepts are equivalent) Atypical PSP syndrome A form of progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI). Orphanet ICD-10:G23.1 ICD-11:8A00.10 MeSH:C537240 OMIM:260540 UMLS:C5548371 Adult Elderly Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99750 Atypical progressive supranuclear palsy syndrome Clinical subtype ORPHA:99750 ICD-10:G23.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537240 E (Exact mapping: the two concepts are equivalent) OMIM:260540 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5548371 E (Exact mapping: the two concepts are equivalent) ICD-10:C49.9 ICD-11:2B55.1 ICD-11:XH7099 MeSH:D018232 MedDRA:10065867 OMIM:268220 UMLS:C0206655 Austria AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.054 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.085 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.062 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.063 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.036 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.029 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.044 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.027 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99756 Alveolar rhabdomyosarcoma Clinical subtype ORPHA:99756 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2B55.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH7099 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018232 E (Exact mapping: the two concepts are equivalent) MedDRA:10065867 E (Exact mapping: the two concepts are equivalent) OMIM:268220 E (Exact mapping: the two concepts are equivalent) UMLS:C0206655 E (Exact mapping: the two concepts are equivalent) ICD-10:C49.9 MeSH:D018233 MedDRA:10065868 OMIM:268210 UMLS:C0206656 Austria AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.091 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.034 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.054 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.055 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.128 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.089 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.126 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.093 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.057 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.074 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.088 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.051 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99757 Embryonal rhabdomyosarcoma Clinical subtype ORPHA:99757 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018233 E (Exact mapping: the two concepts are equivalent) MedDRA:10065868 E (Exact mapping: the two concepts are equivalent) OMIM:268210 E (Exact mapping: the two concepts are equivalent) UMLS:C0206656 E (Exact mapping: the two concepts are equivalent) OBSOLETE: 18-hydroxylase deficiency OBSOLETE: 18-oxidase deficiency OBSOLETE: Aldosterone synthase deficiency OBSOLETE: CMO I OBSOLETE: CMO II OBSOLETE: Corticosterone methyloxidase deficiency type I OBSOLETE: FHHA1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial hypoaldosteronism OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 ORPHA:99763 OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene OBSOLETE: FHHA2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial hypoaldosteronism OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 ORPHA:99764 Bifidity of the uvula Uvular cleft Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate. Orphanet ICD-10:Q35.7 ICD-11:LA42.2 UMLS:C4551488 Multigenic/multifactorial Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99771 Bifid uvula ORPHA:99771 ICD-10:Q35.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA42.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4551488 E (Exact mapping: the two concepts are equivalent) Cleft soft palate Cleft velum palatinum Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. Orphanet ICD-10:Q35.3 ICD-11:LA42.1 MeSH:C562950 OMIM:119570 UMLS:C0432098 Multigenic/multifactorial Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99772 Cleft velum ORPHA:99772 ICD-10:Q35.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA42.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562950 E (Exact mapping: the two concepts are equivalent) OMIM:119570 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432098 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 9 Trisomy 9 mosaicism Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MeSH:C535454 UMLS:C2930908 Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99776 Mosaic trisomy 9 syndrome ORPHA:99776 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C535454 E (Exact mapping: the two concepts are equivalent) UMLS:C2930908 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Triple A syndrome MeSH:C536009 Achalasia-alacrimia syndrome ORPHA:99777 MeSH:C536009 E (Exact mapping: the two concepts are equivalent) OBSOLETE: CCAL1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial calcium pyrophosphate deposition OBSOLETE: Familial articular chondrocalcinosis type 1 ORPHA:99781 OBSOLETE: CCAL2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial calcium pyrophosphate deposition OBSOLETE: Familial articular chondrocalcinosis type 2 ORPHA:99782 DD-I DTDP1 Radicular dentin dysplasia Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth. Orphanet ICD-10:K00.5 ICD-11:LA30.7 MeSH:C538215 UMLS:C0399379 Autosomal dominant Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99789 Dentin dysplasia type I Clinical subtype ORPHA:99789 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C538215 E (Exact mapping: the two concepts are equivalent) UMLS:C0399379 E (Exact mapping: the two concepts are equivalent) DD-II DTDP2 Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition. Orphanet ICD-10:K00.5 ICD-11:LA30.7 OMIM:125420 UMLS:C0399380 Autosomal dominant Worldwide AND has_cases/families_value : 19.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99791 Dentin dysplasia type II Clinical subtype ORPHA:99791 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:125420 E (Exact mapping: the two concepts are equivalent) UMLS:C0399380 E (Exact mapping: the two concepts are equivalent) Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. Orphanet ICD-10:K00.5 MeSH:C538213 OMIM:125440 UMLS:C4749611 Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99792 Dentin dysplasia-sclerotic bones syndrome ORPHA:99792 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C538213 E (Exact mapping: the two concepts are equivalent) OMIM:125440 E (Exact mapping: the two concepts are equivalent) UMLS:C4749611 E (Exact mapping: the two concepts are equivalent) Subcortical laminar heterotopia A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 OMIM:300067 OMIM:600348 OMIM:607432 UMLS:C1848201 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99796 Subcortical band heterotopia ORPHA:99796 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:300067 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600348 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607432 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1848201 E (Exact mapping: the two concepts are equivalent) An extreme developmental dental anomaly characterized by the complete absence of all teeth. Orphanet ICD-10:K00.0 ICD-11:LA30.0 MeSH:D000848 MedDRA:10002583 OMIM:206780 UMLS:C0399352 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99797 Anodontia ORPHA:99797 ICD-10:K00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA30.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D000848 E (Exact mapping: the two concepts are equivalent) MedDRA:10002583 E (Exact mapping: the two concepts are equivalent) OMIM:206780 E (Exact mapping: the two concepts are equivalent) UMLS:C0399352 E (Exact mapping: the two concepts are equivalent) Selective tooth agenesis Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. Orphanet ICD-10:K00.0 ICD-11:LA30.2 MedDRA:10088239 OMIM:106600 OMIM:150400 OMIM:313500 OMIM:604625 OMIM:610926 OMIM:616724 OMIM:617073 OMIM:620173 UMLS:C4082304 Autosomal dominant Autosomal recessive X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99798 Oligodontia ORPHA:99798 ICD-10:K00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA30.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10088239 E (Exact mapping: the two concepts are equivalent) OMIM:106600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:150400 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:313500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604625 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610926 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616724 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617073 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620173 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4082304 E (Exact mapping: the two concepts are equivalent) Albinism-hearing loss syndrome A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. Orphanet ICD-10:H90.5 ICD-11:LD2H.Y MeSH:C537042 OMIM:300700 UMLS:C1845068 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=998 Albinism-deafness syndrome ORPHA:998 ICD-10:H90.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537042 E (Exact mapping: the two concepts are equivalent) OMIM:300700 E (Exact mapping: the two concepts are equivalent) UMLS:C1845068 E (Exact mapping: the two concepts are equivalent) Unilateral megalencephaly Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy. Orphanet ICD-10:Q04.5 ICD-11:LA05.1 MeSH:D065705 MedDRA:10078100 UMLS:C0431391 Not applicable Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99802 Hemimegalencephaly ORPHA:99802 ICD-10:Q04.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D065705 E (Exact mapping: the two concepts are equivalent) MedDRA:10078100 E (Exact mapping: the two concepts are equivalent) UMLS:C0431391 E (Exact mapping: the two concepts are equivalent) Congenital central alveolar hypoventilation-Hirschsprung disease syndrome Ondine-Hirschsprung disease Ondine-Hirschsprung syndrome Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms). Orphanet ICD-10:G47.3 ICD-11:LD2F.1Y OMIM:209880 UMLS:C1859049 Autosomal dominant Multigenic/multifactorial Infancy Neonatal Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99803 Haddad syndrome ORPHA:99803 ICD-10:G47.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:209880 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1859049 E (Exact mapping: the two concepts are equivalent) OOD A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Orphanet ICD-10:K07.8 OMIM:166750 UMLS:C2750325 Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99806 Oculootodental syndrome ORPHA:99806 ICD-10:K07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:166750 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2750325 E (Exact mapping: the two concepts are equivalent) PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. Orphanet ICD-10:G93.4 OMIM:617507 UMLS:C1850056 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99807 PEHO-like syndrome ORPHA:99807 ICD-10:G93.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:617507 E (Exact mapping: the two concepts are equivalent) UMLS:C1850056 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.6 ICD-11:LA05.60 MeSH:C536850 OMIM:175780 OMIM:614483 OMIM:618360 UMLS:C1867983 Autosomal dominant Infancy Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99810 Familial porencephaly Etiological subtype ORPHA:99810 ICD-10:Q04.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA05.60 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536850 E (Exact mapping: the two concepts are equivalent) OMIM:175780 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614483 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618360 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1867983 E (Exact mapping: the two concepts are equivalent) Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. Orphanet ICD-10:K59.8 ICD-11:DA90.2 MeSH:C537394 OMIM:243185 UMLS:C1855733 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99811 Neuronal intestinal pseudoobstruction Etiological subtype ORPHA:99811 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537394 E (Exact mapping: the two concepts are equivalent) OMIM:243185 E (Exact mapping: the two concepts are equivalent) UMLS:C1855733 E (Exact mapping: the two concepts are equivalent) DNA ligase IV deficiency Ligase 4 syndrome LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). Orphanet ICD-10:D81.1 ICD-11:4A01.1Y MeSH:C564694 OMIM:606593 UMLS:C1847827 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 28.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99812 LIG4 syndrome ORPHA:99812 ICD-10:D81.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564694 E (Exact mapping: the two concepts are equivalent) OMIM:606593 E (Exact mapping: the two concepts are equivalent) UMLS:C1847827 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lynch syndrome Non-polyposis Turcot syndrome ORPHA:99817 Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. Orphanet ICD-10:D12.6 ICD-11:2B90.Y OMIM:175100 UMLS:C5681818 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99818 Turcot syndrome with polyposis Clinical subtype ORPHA:99818 ICD-10:D12.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:175100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681818 E (Exact mapping: the two concepts are equivalent) A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy. Orphanet ICD-10:E05.8 ICD-10:O99.2 ICD-11:5A02.Y MeSH:C566384 OMIM:603373 UMLS:C1863959 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99819 Familial gestational hyperthyroidism ORPHA:99819 ICD-10:E05.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:O99.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A02.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566384 E (Exact mapping: the two concepts are equivalent) OMIM:603373 E (Exact mapping: the two concepts are equivalent) UMLS:C1863959 E (Exact mapping: the two concepts are equivalent) LF Lassa hemorrhagic fever Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure. Orphanet ICD-10:A96.2 ICD-11:1D61.2 MeSH:D007835 MedDRA:10023927 UMLS:C0023092 All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99824 Lassa fever ORPHA:99824 ICD-10:A96.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D61.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D007835 E (Exact mapping: the two concepts are equivalent) MedDRA:10023927 E (Exact mapping: the two concepts are equivalent) UMLS:C0023092 E (Exact mapping: the two concepts are equivalent) Nipah encephalitis Nipah fever Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness. Orphanet ICD-10:A98.8 ICD-11:1D63 UMLS:C1320202 All ages Worldwide AND has_cases/families_value : 556.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99825 Nipah virus disease ORPHA:99825 ICD-10:A98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D63 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1320202 E (Exact mapping: the two concepts are equivalent) Green monkey disease MHF Marburg virus disease Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. Orphanet ICD-10:A98.3 ICD-11:1D60.1 MeSH:D008379 MedDRA:10026822 UMLS:C0024788 All ages Worldwide AND has_cases/families_value : 500.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99826 Marburg hemorrhagic fever ORPHA:99826 ICD-10:A98.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D60.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D008379 E (Exact mapping: the two concepts are equivalent) MedDRA:10026822 E (Exact mapping: the two concepts are equivalent) UMLS:C0024788 E (Exact mapping: the two concepts are equivalent) CCHF Congo fever Congo hemorrhagic fever Crimean hemorrhagic fever Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. Orphanet ICD-10:A98.0 ICD-11:1D49 MeSH:D006479 UMLS:C0019099 All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99827 Crimean-Congo hemorrhagic fever ORPHA:99827 ICD-10:A98.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D49 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006479 E (Exact mapping: the two concepts are equivalent) UMLS:C0019099 E (Exact mapping: the two concepts are equivalent) DF Dengue virus infection Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). Orphanet ICD-10:A97.0 ICD-10:A97.1 ICD-10:A97.2 ICD-10:A97.9 ICD-11:1D20 ICD-11:1D21 ICD-11:1D22 MeSH:D003715 MedDRA:10012310 OMIM:614371 UMLS:C0011311 Not applicable All ages Austria AND has_annual_incidence_average_value : 1.14 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 0.98 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.96 AND has_annual_incidence_range : 1-9 / 1 000 000 Greece AND has_annual_incidence_range : <1 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.34 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 1.26 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.07 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.26 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 1.7 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 0.72 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 714.0 AND has_annual_incidence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99828 Dengue fever ORPHA:99828 ICD-10:A97.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A97.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A97.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A97.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D20 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D21 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D22 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D003715 E (Exact mapping: the two concepts are equivalent) MedDRA:10012310 E (Exact mapping: the two concepts are equivalent) OMIM:614371 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0011311 E (Exact mapping: the two concepts are equivalent) Bronze John YF Yellow Jack Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. Orphanet ICD-10:A95.0 ICD-10:A95.1 ICD-10:A95.9 ICD-11:1D47 MeSH:D015004 MedDRA:10048240 UMLS:C0043395 All ages Europe AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99829 Yellow fever ORPHA:99829 ICD-10:A95.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A95.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A95.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1D47 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D015004 E (Exact mapping: the two concepts are equivalent) MedDRA:10048240 E (Exact mapping: the two concepts are equivalent) UMLS:C0043395 E (Exact mapping: the two concepts are equivalent) OBSOLETE: CVID due to an intrinsic T cell defect This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Common variable immunodeficiency OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect ORPHA:99831 Central hypothyroidism due to TRH receptor deficiency TRH resistance syndrome Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Orphanet ICD-10:E03.1 ICD-11:5A00.01 OMIM:618573 UMLS:C4511136 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99832 Resistance to thyrotropin-releasing hormone syndrome ORPHA:99832 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:618573 E (Exact mapping: the two concepts are equivalent) UMLS:C4511136 E (Exact mapping: the two concepts are equivalent) LAD-I Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections. Orphanet ICD-10:D84.8 ICD-11:4A00.0Y MeSH:C535887 OMIM:116920 UMLS:C0398738 Autosomal recessive Childhood Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99842 Leukocyte adhesion deficiency type I Clinical subtype ORPHA:99842 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535887 E (Exact mapping: the two concepts are equivalent) OMIM:116920 E (Exact mapping: the two concepts are equivalent) UMLS:C0398738 E (Exact mapping: the two concepts are equivalent) CDG syndrome type IIc CDG-IIc CDG2C LAD-II Rambam-Hasharon syndrome SLC35C1-CDG Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit. Orphanet ICD-10:D84.8 ICD-11:5C54.2 MeSH:C535755 OMIM:266265 UMLS:C0398739 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99843 Leukocyte adhesion deficiency type II Clinical subtype ORPHA:99843 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C54.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535755 E (Exact mapping: the two concepts are equivalent) OMIM:266265 E (Exact mapping: the two concepts are equivalent) UMLS:C0398739 E (Exact mapping: the two concepts are equivalent) LAD-1 variant LAD-III Leukocyte adhesion deficiency-1 variant Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder. Orphanet ICD-10:D84.8 ICD-11:4A00.0Y MeSH:C567555 OMIM:612840 UMLS:C2748536 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99844 Leukocyte adhesion deficiency type III Clinical subtype ORPHA:99844 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C567555 E (Exact mapping: the two concepts are equivalent) OMIM:612840 E (Exact mapping: the two concepts are equivalent) UMLS:C2748536 E (Exact mapping: the two concepts are equivalent) Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. Orphanet ICD-10:R82.1 ICD-11:5C5Y OMIM:268200 OMIM:550500 UMLS:C4274324 Autosomal dominant Autosomal recessive Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99845 Genetic recurrent myoglobinuria ORPHA:99845 ICD-10:R82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:268200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:550500 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4274324 E (Exact mapping: the two concepts are equivalent) A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. Orphanet ICD-10:R82.1 ICD-11:5C5Y MeSH:C563546 OMIM:160010 UMLS:C1834567 Autosomal dominant No data available Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99846 Autosomal dominant myoglobinuria ORPHA:99846 ICD-10:R82.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563546 E (Exact mapping: the two concepts are equivalent) OMIM:160010 E (Exact mapping: the two concepts are equivalent) UMLS:C1834567 E (Exact mapping: the two concepts are equivalent) GSD due to muscle beta-enolase deficiency GSDXIII Glycogenosis due to muscle beta-enolase deficiency Glycogenosis type 13 Muscle enolase deficiency Muscular enolase deficiency A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. Orphanet ICD-10:E74.0 ICD-11:5C51.3 OMIM:612932 UMLS:C5566614 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99849 Glycogen storage disease due to muscle beta-enolase deficiency ORPHA:99849 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:612932 E (Exact mapping: the two concepts are equivalent) UMLS:C5566614 E (Exact mapping: the two concepts are equivalent) Progressive encephalopathy with severe infantile anorexia Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. Orphanet ICD-10:E75.2 ICD-11:8A44.3 UMLS:C4275006 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 38.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99852 Ravine syndrome ORPHA:99852 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4275006 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:8A44.3 OMIM:603896 OMIM:615889 UMLS:C1847967 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99853 Ovarioleukodystrophy Clinical subtype ORPHA:99853 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:603896 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:615889 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1847967 E (Exact mapping: the two concepts are equivalent) ICD-10:E75.2 ICD-11:8A44.3 OMIM:603896 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99854 Cree leukoencephalopathy Clinical subtype ORPHA:99854 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:603896 NTBT (ORPHAcode is narrower than the targeted code used to represent it) Congenital syringomyelia A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities. Orphanet ICD-10:Q06.4 ICD-11:LA07.3 UMLS:C1299627 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99856 Primary syringomyelia ORPHA:99856 ICD-10:Q06.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA07.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1299627 E (Exact mapping: the two concepts are equivalent) Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. Orphanet ICD-10:G95.0 ICD-11:8D66.1 UMLS:C4749399 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99857 Secondary syringomyelia ORPHA:99857 ICD-10:G95.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D66.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4749399 E (Exact mapping: the two concepts are equivalent) Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding. Orphanet ICD-10:G95.0 ICD-11:8D66.0 UMLS:C4511700 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99858 Idiopathic syringomyelia Clinical subtype ORPHA:99858 ICD-10:G95.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D66.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4511700 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Secondary syringomyelia OBSOLETE: Posttraumatic syringomyelia ORPHA:99859 B-ALL Precursor B-cell acute lymphoblastic leukemia/lymphoma Precursor B-cell acute lymphocytic leukemia Precursor B-cell acute lymphocytic leukemia/lymphoma A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias. Orphanet ICD-10:C91.0 ICD-11:2A70 MedDRA:10066109 OMIM:615545 UMLS:C0349636 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99860 Precursor B-cell acute lymphoblastic leukemia ORPHA:99860 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066109 E (Exact mapping: the two concepts are equivalent) OMIM:615545 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0349636 E (Exact mapping: the two concepts are equivalent) Precursor T-cell acute lymphoblastic leukemia/lymphoma Precursor T-cell acute lymphocytic leukemia Precursor T-cell acute lymphocytic leukemia/lymphoma T-ALL A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common. Orphanet ICD-10:C91.0 ICD-11:2A71 MeSH:D054218 MedDRA:10066110 UMLS:C1961099 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99861 Precursor T-cell acute lymphoblastic leukemia ORPHA:99861 ICD-10:C91.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D054218 E (Exact mapping: the two concepts are equivalent) MedDRA:10066110 E (Exact mapping: the two concepts are equivalent) UMLS:C1961099 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Testicular seminomatous germ cell tumor OBSOLETE: Classic seminoma ORPHA:99864 Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent. Orphanet ICD-10:C62.9 ICD-11:2C80.Y ICD-11:XH80D1 MedDRA:10073118 OMIM:273300 UMLS:C0334517 Unknown Adolescent Adult Europe AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99865 Spermatocytic seminoma ORPHA:99865 ICD-10:C62.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C80.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH80D1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10073118 E (Exact mapping: the two concepts are equivalent) OMIM:273300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0334517 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spermatocytic seminoma OBSOLETE: Metastatic spermatocytic seminoma ORPHA:99866 Primary thymic epithelial neoplasm Primary thymic epithelial tumor Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland. Orphanet ICD-10:D15.0 ICD-10:D38.4 ICD-11:2C27.Y MeSH:D013945 MedDRA:10043670 OMIM:274230 UMLS:C0040100 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 1.22 AND has_lifetime_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99867 Thymoma ORPHA:99867 ICD-10:D15.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D38.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2C27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D013945 E (Exact mapping: the two concepts are equivalent) MedDRA:10043670 E (Exact mapping: the two concepts are equivalent) OMIM:274230 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0040100 E (Exact mapping: the two concepts are equivalent) Malignant thymoma Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential. Orphanet ICD-10:C37 ICD-11:2C27.0 MedDRA:10061031 UMLS:C0205969 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99868 Thymic carcinoma ORPHA:99868 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C27.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10061031 E (Exact mapping: the two concepts are equivalent) UMLS:C0205969 E (Exact mapping: the two concepts are equivalent) Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation. Orphanet ICD-10:C37 ICD-11:2C27.1 UMLS:C2210965 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99869 Thymic neuroendocrine carcinoma ORPHA:99869 ICD-10:C37 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C27.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C2210965 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Acute and disseminated Langerhans cell histiocytosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Letterer-Siwe disease ORPHA:99870 OBSOLETE: Chronic and localized Langerhans cell histiocytosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Eosinophilic granuloma ORPHA:99871 OBSOLETE: Congenital Langerhans cell histiocytosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Hashimoto-Pritzker syndrome ORPHA:99872 OBSOLETE: Chronic multifocal Langerhans cell histiocytosis OBSOLETE: Multifocal eosinophilic granuloma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Hand-Schüller-Christian disease ORPHA:99873 OBSOLETE: Pulmonary histiocytosis X This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Adult pulmonary Langerhans cell histiocytosis ORPHA:99874 OBSOLETE: EDS VIIA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrochalasia Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 7A ORPHA:99875 OBSOLETE: EDS VIIB This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrochalasia Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 7B ORPHA:99876 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated hyperparathyroidism OBSOLETE: Familial parathyroid adenoma ORPHA:99877 OBSOLETE: Familial parathyroid hyperplasia OBSOLETE: Hereditary parathyroid hyperplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated hyperparathyroidism OBSOLETE: Primary parathyroid hyperplasia ORPHA:99878 FIHPT A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations. Orphanet ICD-10:E21.0 ICD-11:5A51.0 MeSH:C564166 MedDRA:10080773 OMIM:145000 OMIM:600166 OMIM:610071 OMIM:617343 OMIM:618883 UMLS:C4551961 Autosomal dominant Adult Worldwide AND has_cases/families_value : 100.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99879 Familial isolated hyperparathyroidism ORPHA:99879 ICD-10:E21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564166 E (Exact mapping: the two concepts are equivalent) MedDRA:10080773 E (Exact mapping: the two concepts are equivalent) OMIM:145000 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600166 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610071 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617343 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618883 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551961 E (Exact mapping: the two concepts are equivalent) HPT-JT A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported. Orphanet ICD-10:E21.0 ICD-11:5A51.0 OMIM:145001 UMLS:C1704981 Adolescent Adult Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99880 Hyperparathyroidism-jaw tumor syndrome ORPHA:99880 ICD-10:E21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:145001 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1704981 E (Exact mapping: the two concepts are equivalent) Isolated PNDM Monogenic diabetes of infancy Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. Orphanet ICD-10:P70.2 ICD-11:KB60.2Y MeSH:C563425 OMIM:606176 OMIM:618856 OMIM:618857 OMIM:618858 UMLS:C5680384 Autosomal dominant Autosomal recessive Antenatal Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Oman AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Slovakia AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99885 Isolated permanent neonatal diabetes mellitus ORPHA:99885 ICD-10:P70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KB60.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563425 E (Exact mapping: the two concepts are equivalent) OMIM:606176 E (Exact mapping: the two concepts are equivalent) OMIM:618856 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618857 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618858 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680384 E (Exact mapping: the two concepts are equivalent) TNDM Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. Orphanet ICD-10:P70.2 ICD-11:KB60.20 OMIM:601410 OMIM:610374 OMIM:610582 UMLS:C0342273 Autosomal dominant Autosomal recessive Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99886 Transient neonatal diabetes mellitus ORPHA:99886 ICD-10:P70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:KB60.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). OMIM:601410 E (Exact mapping: the two concepts are equivalent) OMIM:610374 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610582 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0342273 E (Exact mapping: the two concepts are equivalent) Acute megakaryoblastic leukemia in children with trisomy 21 DS-AMKL in children with Down syndrome DS-AMKL in children with trisomy 21 ICD-10:C94.2 ICD-11:2A60.41 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99887 Acute megakaryoblastic leukemia in children with Down syndrome Clinical subtype ORPHA:99887 ICD-10:C94.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adrenocortical adenoma ORPHA:99888 Adrenocorticotropic hormone secretion syndrome Ectopic ACTH secreting tumor Ectopic Cushing syndrome Occult ectopic ACTH secretion Paraneoplastic Cushing syndrome A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by the secretion of ACTH by non-pituitary neuroendocrine tumors (NETs) of various locations and various degrees of histological differentiation and aggressiveness. Orphanet ICD-10:E24.3 ICD-11:5A70.1 UMLS:C0001231 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99889 Cushing syndrome due to ectopic ACTH secretion ORPHA:99889 ICD-10:E24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A70.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0001231 E (Exact mapping: the two concepts are equivalent) ACTH-dependent CS Adrenocorticotropic hormone-dependent Cushing syndrome Corticotropin-dependent Cushing syndrome A group of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). Orphanet ICD-10:E24.0 UMLS:C0342442 Worldwide AND has_annual_incidence_average_value : 0.55 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99892 ACTH-dependent Cushing syndrome Clinical group ORPHA:99892 ICD-10:E24.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0342442 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Adrenal Cushing syndrome OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome OBSOLETE: Corticotropin-independent Cushing syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Adrenal Cushing syndrome OBSOLETE: ACTH-independent Cushing syndrome ORPHA:99893 MSMD due to complete IFNgammaR1 deficiency MSMD due to complete interferon gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Orphanet ICD-10:D84.8 ICD-11:4A00.2 MeSH:C535530 OMIM:209950 UMLS:C4011949 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 31.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency ORPHA:99898 ICD-10:D84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535530 E (Exact mapping: the two concepts are equivalent) OMIM:209950 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4011949 E (Exact mapping: the two concepts are equivalent) O'Doherty syndrome Pigmentary disorder with deafness Pigmentary disorder with hearing loss A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging. Orphanet ICD-10:E70.3 ICD-11:LD2H.Y MeSH:C535508 OMIM:227010 UMLS:C1856899 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=999 Ermine phenotype ORPHA:999 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535508 E (Exact mapping: the two concepts are equivalent) OMIM:227010 E (Exact mapping: the two concepts are equivalent) UMLS:C1856899 E (Exact mapping: the two concepts are equivalent) LCAD This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Very long chain acyl-CoA dehydrogenase deficiency MeSH:C535690 UMLS:C0220711 Long chain acyl-CoA dehydrogenase deficiency ORPHA:99900 MeSH:C535690 E (Exact mapping: the two concepts are equivalent) UMLS:C0220711 E (Exact mapping: the two concepts are equivalent) ACAD9 deficiency A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain. Orphanet ICD-10:E71.3 MeSH:C567006 MedDRA:10081518 OMIM:611126 UMLS:C1970173 Autosomal recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99901 Acyl-CoA dehydrogenase 9 deficiency ORPHA:99901 ICD-10:E71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:C567006 E (Exact mapping: the two concepts are equivalent) MedDRA:10081518 E (Exact mapping: the two concepts are equivalent) OMIM:611126 E (Exact mapping: the two concepts are equivalent) UMLS:C1970173 E (Exact mapping: the two concepts are equivalent) Sodoku Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus <i>Spirillum minus</i> and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. Orphanet ICD-10:A25.0 ICD-11:1B90.0 UMLS:C0152062 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99903 Spirillary rat-bite fever Etiological subtype ORPHA:99903 ICD-10:A25.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B90.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0152062 E (Exact mapping: the two concepts are equivalent) Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium <i>Streptobacillus moniliformis</i> and is transmitted to humans through the bites and scratches of infected rats. Orphanet ICD-10:A25.1 ICD-11:1B90.1 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99905 Streptobacillary rat-bite fever Etiological subtype ORPHA:99905 ICD-10:A25.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hypersensitivity pneumonitis OBSOLETE: Farmer's lung disease ORPHA:99906 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hypersensitivity pneumonitis OBSOLETE: House allergic alveolitis ORPHA:99907 OBSOLETE: Bird fancier lung This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hypersensitivity pneumonitis OBSOLETE: Pigeon-breeder lung disease ORPHA:99908 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hypersensitivity pneumonitis OBSOLETE: Occupational allergic alveolitis ORPHA:99909 Dysgerminoma of ovary Dysgerminomatous germ cell cancer of the ovary A rare malignant germ cell tumor of ovary characterized by a solid, lobulated mass, usually with a diameter of more than 10 cm, generally occurring in children or young women who present with abdominal pain or an abdominal mass and elevated serum LDH. It is bilateral in about 20% of cases, although the contralateral tumor may not be evident on macroscopic examination. Histopathologically, tumor cells are uniform rounded primitive germ cells with clear cytoplasm and macronucleoli, arranged in nests or cords separated by thin fibrous septa containing lymphocytes. Immunohistochemistry should be positive for OCT4 or SALL4, KIT (CD117), and/or D2-40. Orphanet ICD-10:C56 ICD-11:2C73.1 UMLS:C0346185 Unknown Adolescent Europe AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99912 Ovarian dysgerminoma ORPHA:99912 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0346185 E (Exact mapping: the two concepts are equivalent) UMLS:C5681817 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99913 Extragonadal non-dysgerminomatous germ cell tumor Category ORPHA:99913 UMLS:C5681817 E (Exact mapping: the two concepts are equivalent) ICD-10:D39.1 ICD-10:D40.1 ICD-11:2C73.Y ICD-11:2F96 ICD-11:XH0Q64 UMLS:C0018413 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99914 Gynandroblastoma ORPHA:99914 ICD-10:D39.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:D40.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F96 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH0Q64 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0018413 E (Exact mapping: the two concepts are equivalent) Granulosa cell cancer Granulosa cell malignant tumor A rare malignant sex cord stromal tumor of ovary arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis. Orphanet ICD-10:C56 ICD-11:2C73.2 MeSH:D006106 UMLS:C0334401 Adolescent Adult Elderly Europe AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99915 Malignant granulosa cell tumor of the ovary ORPHA:99915 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006106 E (Exact mapping: the two concepts are equivalent) UMLS:C0334401 E (Exact mapping: the two concepts are equivalent) Androblastoma Arrhenoblastoma Ovarian Sertoli-Leydig cell cancer Ovarian malignant Sertoli-Leydig cell tumor Virilizing ovarian tumor A rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. Orphanet ICD-10:C56 ICD-11:2C73.Y UMLS:C5574973 Adolescent Adult Childhood Elderly Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99916 Malignant Sertoli-Leydig cell tumor of the ovary ORPHA:99916 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5574973 E (Exact mapping: the two concepts are equivalent) Theca (steroid-producing) cell cancer, not further specified A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome. Orphanet ICD-10:C56 ICD-11:2C73.Y UMLS:C4274494 Adult Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99917 Theca steroid-producing cell malignant tumor of ovary, not further specified ORPHA:99917 ICD-10:C56 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C4274494 E (Exact mapping: the two concepts are equivalent) Streptococcal TSS Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a <i>Streptococcus pyogenes</i> infection. Orphanet ICD-10:A48.3 ICD-11:1C45.0 MedDRA:10044251 UMLS:C0343532 Not applicable All ages Denmark AND has_annual_incidence_average_value : 0.23 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99918 Streptococcal toxic-shock syndrome Etiological subtype ORPHA:99918 ICD-10:A48.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C45.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10044251 E (Exact mapping: the two concepts are equivalent) UMLS:C0343532 E (Exact mapping: the two concepts are equivalent) Staphylococcal TSS Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a <i>Staphylococcus aureus</i> bacterial infection. Orphanet ICD-10:A48.3 ICD-11:1C45.1 MedDRA:10044250 UMLS:C3714602 Not applicable All ages United States AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99919 Staphylococcal toxic-shock syndrome Etiological subtype ORPHA:99919 ICD-10:A48.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C45.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10044250 E (Exact mapping: the two concepts are equivalent) UMLS:C3714602 E (Exact mapping: the two concepts are equivalent) ICD-10:T86.0 ICD-11:4B24.0 MedDRA:10066260 UMLS:C0856825 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99920 Acute graft versus host disease Clinical subtype ORPHA:99920 ICD-10:T86.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B24.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066260 E (Exact mapping: the two concepts are equivalent) UMLS:C0856825 E (Exact mapping: the two concepts are equivalent) ICD-10:T86.0 ICD-11:4B24.1 MedDRA:10066261 UMLS:C0867389 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99921 Chronic graft versus host disease Clinical subtype ORPHA:99921 ICD-10:T86.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4B24.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10066261 E (Exact mapping: the two concepts are equivalent) UMLS:C0867389 E (Exact mapping: the two concepts are equivalent) A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease. Orphanet ICD-10:H13.3* ICD-10:L12+ ICD-11:9A62 MedDRA:10067776 UMLS:C1282359 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99922 Ocular cicatricial pemphigoid ORPHA:99922 ICD-10:H13.3* - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:L12+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:9A62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10067776 E (Exact mapping: the two concepts are equivalent) UMLS:C1282359 E (Exact mapping: the two concepts are equivalent) A form of gestational trophoblastic neoplasia similar to a hydatidiform mole but with deep invasion into the myometrium and histologically characterized by hyperplasia of trophoblasts, generalized cystic degeneration of chorionic villi and the presence of molar villi in the myometrium and/ or uterine blood vessels. Indicative signs include persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole. Metastases (in the lungs or vagina) may be observed. Orphanet ICD-10:D39.2 ICD-11:2F76 MeSH:D002820 UMLS:C0008493 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99925 Invasive mole ORPHA:99925 ICD-10:D39.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2F76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D002820 E (Exact mapping: the two concepts are equivalent) UMLS:C0008493 E (Exact mapping: the two concepts are equivalent) A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age. Orphanet ICD-10:C58 ICD-11:2C75.0 UMLS:C0349557 Not applicable Adult Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_lifetime_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99926 Gestational choriocarcinoma ORPHA:99926 ICD-10:C58 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C0349557 E (Exact mapping: the two concepts are equivalent) Molar pregnancy A rare, benign gestational trophoblastic disease that develops during pregnancy and is characterized by the abnormal fertilization, trophoblastic proliferation, and abnormal or absent embryo development. Hydatidiform moles can be either complete or partial. Orphanet ICD-10:O01.0 ICD-10:O01.1 ICD-10:O01.9 ICD-11:JA02 MeSH:D006828 MedDRA:10020481 OMIM:231090 OMIM:614293 UMLS:C0020217 Autosomal recessive Not applicable Adolescent Adult Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99927 Hydatidiform mole ORPHA:99927 ICD-10:O01.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:O01.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:O01.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:JA02 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D006828 E (Exact mapping: the two concepts are equivalent) MedDRA:10020481 E (Exact mapping: the two concepts are equivalent) OMIM:231090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614293 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020217 E (Exact mapping: the two concepts are equivalent) PSST A rare gestational trophoblastic neoplasm characterized histologically by invasion of myometrium by intermediate trophoblastic cells without chorionic villi and containing human placental lactogen hormone (hPL). Tissue necrosis is usually absent and hemorrhage is mild. The tumor develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy. Orphanet ICD-10:D39.2 ICD-11:2F31.2 ICD-11:2F76 ICD-11:2F96 ICD-11:XH1RM5 MeSH:D018245 UMLS:C0206666 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_lifetime_prevalence_average_value : 0.86 AND has_lifetime_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99928 Placental site trophoblastic tumor ORPHA:99928 ICD-10:D39.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F76 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:2F96 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH1RM5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018245 E (Exact mapping: the two concepts are equivalent) UMLS:C0206666 E (Exact mapping: the two concepts are equivalent) Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography Orphanet ICD-10:E83.1+ ICD-10:J99.8* ICD-11:CB05.5 UMLS:C4274326 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99930 Secondary pulmonary hemosiderosis ORPHA:99930 ICD-10:E83.1+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:J99.8* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB05.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C4274326 E (Exact mapping: the two concepts are equivalent) Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. Orphanet ICD-10:E83.1+ ICD-10:J99.8* ICD-11:CB04.30 MeSH:C536281 OMIM:178550 OMIM:235500 UMLS:C0020807 Childhood Europe AND has_annual_incidence_average_value : 0.0425 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99931 Idiopathic pulmonary hemosiderosis ORPHA:99931 ICD-10:E83.1+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-10:J99.8* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:CB04.30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C536281 E (Exact mapping: the two concepts are equivalent) OMIM:178550 E (Exact mapping: the two concepts are equivalent) OMIM:235500 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020807 E (Exact mapping: the two concepts are equivalent) Cow's milk hypersensitivity Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet. Orphanet ICD-10:E83.1+ ICD-10:J99.8* ICD-11:CB05.5 UMLS:C3873343 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99932 Heiner syndrome ORPHA:99932 ICD-10:E83.1+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:J99.8* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB05.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3873343 E (Exact mapping: the two concepts are equivalent) ICD-10:C34.1 ICD-10:C34.2 ICD-10:C34.3 ICD-10:C34.8 ICD-10:C34.9 ICD-11:2C25.Y UMLS:C5681813 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99933 Pleuropulmonary blastoma type 1 Clinical subtype ORPHA:99933 ICD-10:C34.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681813 E (Exact mapping: the two concepts are equivalent) ICD-10:C34.1 ICD-10:C34.2 ICD-10:C34.3 ICD-10:C34.8 ICD-10:C34.9 ICD-11:2C25.Y UMLS:C5681814 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99934 Pleuropulmonary blastoma type 2 Clinical subtype ORPHA:99934 ICD-10:C34.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681814 E (Exact mapping: the two concepts are equivalent) ICD-10:C34.1 ICD-10:C34.2 ICD-10:C34.3 ICD-10:C34.8 ICD-10:C34.9 ICD-11:2C25.Y UMLS:C5681815 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99935 Pleuropulmonary blastoma type 3 Clinical subtype ORPHA:99935 ICD-10:C34.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C34.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C25.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681815 E (Exact mapping: the two concepts are equivalent) CMT2B A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C537989 OMIM:600882 UMLS:C1833219 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B ORPHA:99936 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537989 E (Exact mapping: the two concepts are equivalent) OMIM:600882 E (Exact mapping: the two concepts are equivalent) UMLS:C1833219 E (Exact mapping: the two concepts are equivalent) CMT2C A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C565261 OMIM:606071 UMLS:C1853710 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C ORPHA:99937 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C565261 E (Exact mapping: the two concepts are equivalent) OMIM:606071 E (Exact mapping: the two concepts are equivalent) UMLS:C1853710 E (Exact mapping: the two concepts are equivalent) CMT2D A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C537993 OMIM:601472 UMLS:C1832274 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 44.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D ORPHA:99938 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537993 E (Exact mapping: the two concepts are equivalent) OMIM:601472 E (Exact mapping: the two concepts are equivalent) UMLS:C1832274 E (Exact mapping: the two concepts are equivalent) CMT2E A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C537994 OMIM:607684 UMLS:C1843225 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E ORPHA:99939 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C537994 E (Exact mapping: the two concepts are equivalent) OMIM:607684 E (Exact mapping: the two concepts are equivalent) UMLS:C1843225 E (Exact mapping: the two concepts are equivalent) CMT2F A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C535413 OMIM:606595 UMLS:C1847823 Autosomal dominant Adolescent Adult Elderly Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F ORPHA:99940 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535413 E (Exact mapping: the two concepts are equivalent) OMIM:606595 E (Exact mapping: the two concepts are equivalent) UMLS:C1847823 E (Exact mapping: the two concepts are equivalent) CMT2G A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course. Orphanet ICD-10:G60.0 ICD-11:8C20.1 OMIM:614436 UMLS:C1837805 Autosomal dominant Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G ORPHA:99941 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614436 E (Exact mapping: the two concepts are equivalent) UMLS:C1837805 E (Exact mapping: the two concepts are equivalent) CMT2I A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C535416 OMIM:607677 UMLS:C3888087 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I ORPHA:99942 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535416 E (Exact mapping: the two concepts are equivalent) OMIM:607677 E (Exact mapping: the two concepts are equivalent) UMLS:C3888087 E (Exact mapping: the two concepts are equivalent) CMT2J A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C535417 OMIM:607736 UMLS:C1843153 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J ORPHA:99943 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535417 E (Exact mapping: the two concepts are equivalent) OMIM:607736 E (Exact mapping: the two concepts are equivalent) UMLS:C1843153 E (Exact mapping: the two concepts are equivalent) CMT2K An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C564325 OMIM:607831 UMLS:C1842984 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K ORPHA:99944 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564325 E (Exact mapping: the two concepts are equivalent) OMIM:607831 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1842984 E (Exact mapping: the two concepts are equivalent) CMT2L A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. Orphanet ICD-10:G60.0 ICD-11:8C20.1 OMIM:608673 UMLS:C4304673 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L ORPHA:99945 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:608673 E (Exact mapping: the two concepts are equivalent) UMLS:C4304673 E (Exact mapping: the two concepts are equivalent) CMT2A1 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MeSH:C566138 OMIM:118210 UMLS:C1861678 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 ORPHA:99946 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C566138 E (Exact mapping: the two concepts are equivalent) OMIM:118210 E (Exact mapping: the two concepts are equivalent) UMLS:C1861678 E (Exact mapping: the two concepts are equivalent) CMT2A2 A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. Orphanet ICD-10:G60.0 ICD-11:8C20.1 OMIM:609260 UMLS:C4721887 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 ORPHA:99947 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609260 E (Exact mapping: the two concepts are equivalent) UMLS:C4721887 E (Exact mapping: the two concepts are equivalent) CMT4A Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535419 OMIM:214400 UMLS:C1859198 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99948 Charcot-Marie-Tooth disease type 4A ORPHA:99948 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535419 E (Exact mapping: the two concepts are equivalent) OMIM:214400 E (Exact mapping: the two concepts are equivalent) UMLS:C1859198 E (Exact mapping: the two concepts are equivalent) CMT4C Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535423 OMIM:601596 UMLS:C1866636 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99949 Charcot-Marie-Tooth disease type 4C ORPHA:99949 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535423 E (Exact mapping: the two concepts are equivalent) OMIM:601596 E (Exact mapping: the two concepts are equivalent) UMLS:C1866636 E (Exact mapping: the two concepts are equivalent) CMT4D HMSN, Lom type HMSN-Lom Hereditary motor and sensory neuropathy, Lom type Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535716 OMIM:601455 UMLS:C1832334 Autosomal recessive Adolescent Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99950 Charcot-Marie-Tooth disease type 4D ORPHA:99950 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535716 E (Exact mapping: the two concepts are equivalent) OMIM:601455 E (Exact mapping: the two concepts are equivalent) UMLS:C1832334 E (Exact mapping: the two concepts are equivalent) Autosomal recessive congenital hypomyelinating neuropathy CMT4E Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535301 OMIM:605253 UMLS:C4721437 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99951 Charcot-Marie-Tooth disease type 4E ORPHA:99951 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535301 E (Exact mapping: the two concepts are equivalent) OMIM:605253 E (Exact mapping: the two concepts are equivalent) UMLS:C4721437 E (Exact mapping: the two concepts are equivalent) CMT4F Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. Orphanet ICD-10:G60.0 ICD-11:8C20.0 OMIM:614895 UMLS:C2608082 Autosomal recessive Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99952 Charcot-Marie-Tooth disease type 4F ORPHA:99952 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:614895 E (Exact mapping: the two concepts are equivalent) UMLS:C2608082 E (Exact mapping: the two concepts are equivalent) CMT4G HMSNR Hereditary motor and sensory neuropathy, Russe Type Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535813 OMIM:605285 UMLS:C1854449 Autosomal recessive Adolescent Childhood Czech Republic AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99953 Charcot-Marie-Tooth disease type 4G ORPHA:99953 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535813 E (Exact mapping: the two concepts are equivalent) OMIM:605285 E (Exact mapping: the two concepts are equivalent) UMLS:C1854449 E (Exact mapping: the two concepts are equivalent) CMT4H Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C563740 OMIM:609311 UMLS:C1836336 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99954 Charcot-Marie-Tooth disease type 4H ORPHA:99954 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C563740 E (Exact mapping: the two concepts are equivalent) OMIM:609311 E (Exact mapping: the two concepts are equivalent) UMLS:C1836336 E (Exact mapping: the two concepts are equivalent) CMT4B1 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535420 OMIM:601382 UMLS:C1832399 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 11.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99955 Charcot-Marie-Tooth disease type 4B1 ORPHA:99955 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535420 E (Exact mapping: the two concepts are equivalent) OMIM:601382 E (Exact mapping: the two concepts are equivalent) UMLS:C1832399 E (Exact mapping: the two concepts are equivalent) CMT4B2 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MeSH:C535421 OMIM:604563 UMLS:C1858278 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99956 Charcot-Marie-Tooth disease type 4B2 ORPHA:99956 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C535421 E (Exact mapping: the two concepts are equivalent) OMIM:604563 E (Exact mapping: the two concepts are equivalent) UMLS:C1858278 E (Exact mapping: the two concepts are equivalent) BRIC type 1 BRIC1 ICD-10:K83.1 ICD-11:5C58.04 OMIM:243300 UMLS:C4551899 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99960 Benign recurrent intrahepatic cholestasis type 1 Clinical subtype ORPHA:99960 ICD-10:K83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:243300 E (Exact mapping: the two concepts are equivalent) UMLS:C4551899 E (Exact mapping: the two concepts are equivalent) BRIC type 2 BRIC2 ICD-10:K83.1 ICD-11:5C58.04 OMIM:605479 UMLS:C2608083 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99961 Benign recurrent intrahepatic cholestasis type 2 Clinical subtype ORPHA:99961 ICD-10:K83.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:605479 E (Exact mapping: the two concepts are equivalent) UMLS:C2608083 E (Exact mapping: the two concepts are equivalent) A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. Orphanet ICD-10:G12.8 MedDRA:10069682 UMLS:C2721741 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99965 O'Sullivan-McLeod syndrome ORPHA:99965 ICD-10:G12.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MedDRA:10069682 E (Exact mapping: the two concepts are equivalent) UMLS:C2721741 E (Exact mapping: the two concepts are equivalent) ATRT A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children. Orphanet ICD-10:C49.9 ICD-11:2A00.1Y OMIM:609322 UMLS:C1266184 Antenatal Childhood Infancy Neonatal Austria AND has_annual_incidence_average_value : 1.38 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99966 Atypical teratoid rhabdoid tumor ORPHA:99966 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A00.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). OMIM:609322 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1266184 E (Exact mapping: the two concepts are equivalent) MRCLS Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS. Orphanet ICD-10:C49.9 MeSH:D018208 OMIM:613488 UMLS:C0206634 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99967 Myxoid/round cell liposarcoma Histopathological subtype ORPHA:99967 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:D018208 E (Exact mapping: the two concepts are equivalent) OMIM:613488 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0206634 E (Exact mapping: the two concepts are equivalent) PLS Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms). Orphanet ICD-10:C49.9 MedDRA:10073138 UMLS:C0205825 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99969 Pleomorphic liposarcoma Histopathological subtype ORPHA:99969 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073138 E (Exact mapping: the two concepts are equivalent) UMLS:C0205825 E (Exact mapping: the two concepts are equivalent) DDLS Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. . Orphanet ICD-10:C49.9 MedDRA:10073135 UMLS:C0205824 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.27 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99970 Dedifferentiated liposarcoma Histopathological subtype ORPHA:99970 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10073135 E (Exact mapping: the two concepts are equivalent) UMLS:C0205824 E (Exact mapping: the two concepts are equivalent) ALT Atypical lipoma Atypical lipomatous tumor WDLS Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes. Orphanet ICD-10:C49.9 UMLS:C1370889 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.51 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99971 Well-differentiated liposarcoma Histopathological subtype ORPHA:99971 ICD-10:C49.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1370889 E (Exact mapping: the two concepts are equivalent) OBSOLETE: IgA1 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Immunodeficiency predominantly affecting antibody production OBSOLETE: Immunoglobulin A1 deficiency ORPHA:99972 OBSOLETE: IgA2 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Immunodeficiency predominantly affecting antibody production OBSOLETE: Immunoglobulin A2 deficiency ORPHA:99973 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Immunodeficiency predominantly affecting antibody production OBSOLETE: TACI-related selective deficiency of IgA ORPHA:99974 Esophageal adenocarcinoma Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach. Orphanet ICD-10:C15.2 ICD-10:C15.5 ICD-11:2B70.0 MeSH:C562730 MedDRA:10030137 OMIM:614266 UMLS:C0279628 Not applicable Adult Elderly Austria AND has_annual_incidence_average_value : 1.235 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 3.918 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 0.364 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.485 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 1.28 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 0.305 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 3.264 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 5.55 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 1.681 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 1.636 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 2.471 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 3.736 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 0.947 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.39 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.526 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 1.319 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 5.196 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.848 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 0.315 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.829 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.578 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.651 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 1.178 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 2.612 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 6.592 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99976 Adenocarcinoma of the esophagus ORPHA:99976 ICD-10:C15.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:C562730 E (Exact mapping: the two concepts are equivalent) MedDRA:10030137 E (Exact mapping: the two concepts are equivalent) OMIM:614266 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0279628 E (Exact mapping: the two concepts are equivalent) ESCC Esophageal epidermoid carcinoma Esophageal squamous cell carcinoma Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third. Orphanet ICD-10:C15.0 ICD-10:C15.1 ICD-10:C15.3 ICD-10:C15.4 ICD-11:2B70.1 MedDRA:10061534 OMIM:133239 UMLS:C0279626 Multigenic/multifactorial Not applicable Adult Elderly Austria AND has_annual_incidence_average_value : 2.026 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 3.881 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 0.801 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 2.79 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 2.315 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 3.122 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 3.357 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 5.42 AND has_lifetime_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_annual_incidence_average_value : 2.325 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 5.069 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 4.172 AND has_annual_incidence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 2.215 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 3.443 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 2.623 AND has_annual_incidence_range : 1-9 / 100 000 Latvia AND has_annual_incidence_average_value : 2.896 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 2.922 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 1.256 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 3.139 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.706 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 1.996 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 3.734 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 3.866 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 3.234 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 3.544 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 3.778 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 4.186 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 5.2 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99977 Squamous cell carcinoma of the esophagus ORPHA:99977 ICD-10:C15.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C15.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B70.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10061534 E (Exact mapping: the two concepts are equivalent) OMIM:133239 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0279626 E (Exact mapping: the two concepts are equivalent) Hilar CCA Hilar cholangiocarcinoma Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct. Orphanet ICD-10:C24.0 ICD-11:2C18.0 MeSH:D018285 UMLS:C0206702 Not applicable Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99978 Klatskin tumor ORPHA:99978 ICD-10:C24.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C18.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D018285 E (Exact mapping: the two concepts are equivalent) UMLS:C0206702 E (Exact mapping: the two concepts are equivalent) A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases. Orphanet ICD-10:P28.4 ICD-11:7A40.2 UMLS:C0475715 Not applicable Infancy Neonatal Europe AND has_point_prevalence_average_value : 8.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99981 Apnea of prematurity ORPHA:99981 ICD-10:P28.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:7A40.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0475715 E (Exact mapping: the two concepts are equivalent) ICD-10:B87.0 ICD-11:1G01.3 UMLS:C0027031 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99983 Cutaneous myiasis Category ORPHA:99983 ICD-10:B87.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1G01.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0027031 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated restrictive cardiomyopathy OBSOLETE: Familial restrictive cardiomyopathy type 1 ORPHA:99985 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated restrictive cardiomyopathy OBSOLETE: Familial restrictive cardiomyopathy type 2 ORPHA:99986 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Anophthalmia/microphthalmia-esophageal atresia syndrome OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome ORPHA:99987 Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form A rare genetic neonatal diabetes mellitus syndrome characterized by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. Is it a less severe form of DEND syndrome. Orphanet ICD-10:P70.2 UMLS:C5680423 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99989 Intermediate DEND syndrome ORPHA:99989 ICD-10:P70.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5680423 E (Exact mapping: the two concepts are equivalent) Brill disease Recrudescent typhus ICD-10:A75.1 ICD-11:1C30.1 MedDRA:10038017 UMLS:C0006181 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99990 Brill-Zinsser disease Clinical subtype ORPHA:99990 ICD-10:A75.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1C30.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10038017 E (Exact mapping: the two concepts are equivalent) UMLS:C0006181 E (Exact mapping: the two concepts are equivalent) ICD-10:A75.0 ICD-11:1C30.Y UMLS:C5681812 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99991 Relapsing epidemic typhus Clinical subtype ORPHA:99991 ICD-10:A75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C30.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5681812 E (Exact mapping: the two concepts are equivalent) Causalgia Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. Orphanet ICD-10:G90.6 ICD-11:MG30.04 MedDRA:10064335 UMLS:C0007462 All ages Europe AND has_point_prevalence_range : Unknown United States AND has_annual_incidence_average_value : 0.82 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99994 Complex regional pain syndrome type 2 Clinical subtype ORPHA:99994 ICD-10:G90.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:MG30.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064335 E (Exact mapping: the two concepts are equivalent) UMLS:C0007462 E (Exact mapping: the two concepts are equivalent) Algodystrophy Reflex sympathetic dystrophy Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. Orphanet ICD-10:G90.5 ICD-11:MG30.04 MedDRA:10064334 OMIM:604335 UMLS:C0034931 All ages United States AND has_annual_incidence_average_value : 5.46 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 20.57 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99995 Complex regional pain syndrome type 1 Clinical subtype ORPHA:99995 ICD-10:G90.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:MG30.04 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MedDRA:10064334 E (Exact mapping: the two concepts are equivalent) OMIM:604335 E (Exact mapping: the two concepts are equivalent) UMLS:C0034931 E (Exact mapping: the two concepts are equivalent) A generic term used to describe the clinical items included in the Orphanet nomenclature of rare diseases. clinical entity DNA or RNA sequence (gene with protein product, non-coding RNA and disorder-associated locus). genetic material A clinical entity that has been excluded from the Orphanet nomenclature. This includes obsolete entities, deprecated entities, and entities that have been inactivated because they are not rare in Europe. inactive clinical entity A clinical entity that was initially considered as an independent diagnosis, but is now considered as part of another diagnosis as a result of the evolution of knowledge, and is therefore removed from the Orphanet nomenclature. deprecated clinical entity A group of disorder that was initially considered as an independent diagnosis, but is now considered as part of another diagnosis as a result of the evolution of knowledge, and is therefore removed from the Orphanet nomenclature. deprecated group of disorder A disorder that was initially considered as an independent diagnosis, but is now considered as part of another diagnosis as a result of the evolution of knowledge, and is therefore removed from the Orphanet nomenclature. deprecated disorder A subtype of disorder that was initially considered as an independent diagnosis, but is now considered as part of another diagnosis as a result of the evolution of knowledge, and is therefore removed from the Orphanet nomenclature. deprecated subtype of disorder A clinical entity that does not meet the European definition of a rare disease (less than 5 affected individuals per 10,000 in Europe) in light of current epidemological knowledge, and has therefore been removed from the Orphanet nomenclature. non rare clinical entity A group of disorder that does not meet the European definition of a rare disease (less than 5 affected individuals per 10,000 in Europe) in light of current epidemological knowledge, and has therefore been removed from the Orphanet nomenclature. non rare group of disorder A disorder that does not meet the European definition of a rare disease (less than 5 affected individuals per 10,000 in Europe) in light of current epidemological knowledge, and has therefore been removed from the Orphanet nomenclature. non rare disorder A subtype of disorder that does not meet the European definition of a rare disease (less than 5 affected individuals per 10,000 in Europe) in light of current epidemological knowledge, and has therefore been removed from the Orphanet nomenclature. non rare subtype of disorder A clinical entity that has been removed from the Orphanet nomenclature for one of the following reasons: exact duplicate of another existing clinical entity; unclear clinical entity that cannot be precisely characterised; only one published case in the literature; organisational category that is no longer in use. obsolete clinical entity A group of disorder that has been removed from the Orphanet nomenclature for one of the following reasons: exact duplicate of another existing clinical entity; unclear clinical entity that cannot be precisely characterised; only one published case in the literature; organisational category that is no longer in use. obsolete group of disorder A disorder that has been removed from the Orphanet nomenclature for one of the following reasons: exact duplicate of another existing clinical entity; unclear clinical entity that cannot be precisely characterised; only one published case in the literature; organisational category that is no longer in use. obsolete disorder A subtype of disorder that has been removed from the Orphanet nomenclature for one of the following reasons: exact duplicate of another existing clinical entity; unclear clinical entity that cannot be precisely characterised; only one published case in the literature; organisational category that is no longer in use. obsolete subtype of disorder CC BY 4.0 A group of clinically homogeneous disorders that share a similar etiology, course, outcome, and/or management. clinical group Subdivision of a disorder according to distinct causes resulting in a similar clinical presentation. etiological subtype Subdivision of a disorder according to distinct clinical characteristics (severity, age of onset, particular clinical signs, etc.). clinical subtype Subdivision of a disorder according to characteristic histological patterns. histopathological subtype Pattern of inheritance in which a single mutated allele located on one of the 22 autosomes (non-sex chromosomes) is sufficient to express the phenotype. autosomal dominant Pattern of inheritance in which two mutated alleles of the same gene located on one of the 22 autosomes (non-sexual chromosomes) are needed to express the phenotype. autosomal recessive The combination of one or more genes and/or environmental factors contributes to the expression of the phenotype. multigenic/multifactorial Pattern of inheritance in which two mutated alleles on the X chromosome are needed to express the phenotype. The phenotype is expressed in hemizygous boys (having only one copy of the gene) and homozygous girls. X-linked recessive Pattern of inheritance in which a mutation in one of the mitochondrial genes is sufficient to express the phenotype. The transmission is exclusively maternal. mitochondrial Pattern of inheritance in which a single mutated allele on the X chromosome is sufficient to express the phenotype. The phenotype is more consistently and severely expressed in hemizygous boys (having only one copy of the gene) than in heterozygous girls. X-linked dominant The combination of mutated alleles of two or more genes is necessary to express the phenotype. oligogenic Pattern of inheritance in which a single mutated allele located on one of the 22 autosomes (non-sex chromosomes) suffices to express the phenotype, the phenotype of the homozygous individual being more severe, when both alleles are mutated. semi-dominant Pattern of inheritance in which a single mutated allele on the Y chromosome is sufficient to express the phenotype. The transmission is exclusively paternal. Y-linked Hereditary clinical entity whose mode of inheritance is unknown. unknown inheritance No information is available in the scientific literature on heredity of the clinical entity. no inheritance data available clinical entity without genetic inheritance. not genetically inherited Before birth. antenatal From birth to the fourth week of life. neonatal From the end of the fourth week to the 23rd month of life. infancy From 2 to 11 years. childhood From 12 to 18 years. adolescent From 19 to 65 years. adult After 65 years. elderly From birth to adulthood without peak of onset. all ages No information is available in the scientific literature on the age of onset of the first clinical manifestations. no age of onset data available Number of cases scaled up to the general population at a given time. point prevalence Number of newly diagnosed cases in a population in 1 year. annual incidence Number of cases observed at birth relative to the number of children born alive at a given moment. birth prevalence Number of cases presenting or having presented the clinical entity during their lifetime scaled up to the general population. lifetime prevalence Number of cases or family (ies) published in the literature. cases/families Number of cases published in the literature. case Number of family(ies) published in the literature. family Interval of prevalence or annual incidence of between 1 and 5 cases per 10,000 in the population. 1-5 / 10 000 Interval of prevalence or annual incidence of between 1 and 9 cases per 1,000,000 in the population. 1-9 / 1 000 000 Interval of prevalence or annual incidence of between 1 and 9 cases per 100,000 in the population. 1-9 / 100 000 Interval of prevalence or annual incidence of between 6 and 9 cases per 10,000 in the population. 6-9 / 10 000 Interval of prevalence or annual incidence of less than 1 case per 1,000,000 in the population. <1 / 1 000 000 Interval of prevalence or annual incidence greater than 1 case per 1,000 in the population. >1 / 1000 No information is available in the scientific literature to inform prevalence or annual incidence. Unknown_epidemiological_range A group of clinically heterogeneous disorders sharingone general feature, used to organise the classification. category Number of cases in a population during a given period. The number of cases may be expressed by annual incidence (Annual incidence), prevalence (Prevalence) and / or number of cases / families (Cases/families) published in the literature. epidemiology Number of cases scaled up to the general population at a given time or during a given period. Prevalence can be observed at birth (prevalence at birth), at a point in time (point prevalence), or in a lifetime (lifetime prevalence). prevalence Pattern in which a clinical entity of genetic origin is being passed down to the offspring. inheritance Refers to a country, a continent or the whole world. geography Relationship between clinical entity and annual incidence range. has_annual_incidence_range Age of onset of clinical manifestations related to a clinical entity. age of onset Relationship between clinical entity and number of cases/families. has_cases/families_value Relationship between clinical entity and point prevalence range. has_point_prevalence_range Relationship between clinical entity and birth prevalence range. has_birth_prevalence_range Relationship between clinical entity and lifetime prevalence range. has_lifetime_prevalence_range Relationship between the clinical entity and the mean value of its point prevalence. has_point_prevalence_average_value Relationship between the clinical entity and the mean value of its birth prevalence. has_birth_prevalence_average_value Relationship between the clinical entity and the mean value of its lifetime prevalence. has_lifetime_prevalence_average_value Relationship between the clinical entity and the mean value of its annual incidence. has_annual_incidence_average_value